[ { "id": "NANDO:1200338", "label_en": "Netherton syndrome", "label_ja": "ネザートン症候群", "yomigana": "ねざーとんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200338", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal hair morphology | Abnormal intestine morphology | Abnormal neutrophil physiology | Absent eyebrow | Acanthosis nigricans | Allergic rhinitis | Allergy | Alopecia | Aminoaciduria | Anaphylactic shock | Anemia | Angioedema | Apnea | Appendicular hypotonia | Asthma | Atopic dermatitis | Autosomal recessive inheritance | Bacterial endocarditis | Blepharitis | Brittle hair | Brittle scalp hair | Caesarean section | Cellulitis | Chronic constipation | Chronic diarrhea | Chronic rhinitis | Coarse hair | Congenital exfoliative erythroderma | Congenital ichthyosiform erythroderma | Congenital nonbullous ichthyosiform erythroderma | Congenital onset | Conjunctivitis | Cow milk allergy | Decreased circulating IgG concentration | Decreased circulating complement C3 concentration | Decreased circulating immunoglobulin concentration | Dehydration | Dermatographic urticaria | Diarrhea | Dry hair | Dry skin | Dyspnea | Eclabion | Ectopic kidney | Ectropion | Eczematoid dermatitis | Emphysema | Erythema | Erythroderma | Facial edema | Failure to thrive | Feeding difficulties | Fine hair | Flexural lichenification | Global developmental delay | Growth delay | Hearing impairment | Hepatitis | Humoral immunodeficiency | Hydrocephalus | Hydronephrosis | Hyperkeratosis | Hypernatremia | Hypernatremic dehydration | Hypotonia | Ichthyosis | Immunologic hypersensitivity | Increased circulating IgE concentration | Increased total eosinophil count | Infantile onset | Intellectual disability | Interstitial pneumonitis | Intestinal atresia | Intussusception | Irregular hyperpigmentation | Irritability | Jaundice | Juvenile onset | Lichenification | Malabsorption | Malnutrition | Meningitis | Neonatal onset | Neonatal respiratory distress | Nevus | Papule | Parakeratosis | Pili torti | Pneumonia | Postnatal-onset ichthyosiform erythroderma | Premature birth | Pruritus | Psoriasiform dermatitis | Pustule | Recurrent fever | Recurrent infection of the gastrointestinal tract | Recurrent infections | Recurrent lower respiratory tract infections | Recurrent otitis media | Recurrent pneumonia | Recurrent respiratory infections | Recurrent sinusitis | Recurrent skin infections | Recurrent upper respiratory tract infections | Rhinitis | Seasonal allergy | Seborrheic dermatitis | Seizure | Sensorineural hearing impairment | Sepsis | Short stature | Skin plaque | Skin rash | Sparse eyelashes | Sparse hair | Sparse scalp hair | Trichorrhexis nodosa | Urticaria | Villous atrophy" ], "symptoms_ja_list": [ "IgE 値増加 | IgG欠乏症 | アトピー性皮膚炎 | アナフィラキシーショック | アミノ酸尿 | アレルギー | アレルギー性鼻炎 | 下痢 | 不全角化症 | 不規則な高色素 | 丘疹 | 乾いた毛髪 | 乾いた皮膚 | 乾癬 | 低ガンマグロブリン血症 | 低身長 | 体肢筋筋緊張低下 | 先天性剥奪性紅皮症 | 先天性非水泡性魚鱗癬型紅皮症 | 先天性魚鱗癬型紅皮症 | 免疫学的過敏性 | 全般性発達遅滞 | 反復性上気道感染症 | 反復性下気道感染症 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性呼吸器感染症 | 反復性感染症 | 反復性皮膚感染症 | 反復性肺炎 | 口唇外反 | 吸収障害 | 呼吸困難 | 喘息 | 外反(眼瞼) | 好中球生理の異常 | 好酸球増多症 | 季節性アレルギー | 屈曲部苔癬化 | 帝王切開 | 常染色体潜性遺伝 | 感音難聴 | 慢性下痢 | 慢性便秘 | 慢性鼻炎 | 成長遅滞 | 成長障害 (成長不全) | 捻転毛 | 掻痒 | 描画症性蕁麻疹 | 敗血症 | 新生児呼吸窮迫 | 早産 | 栄養失調 | 母斑 | 毛髪の異常 | 水腎症 | 水頭症 | 湿疹 | 無呼吸 | 牛乳アレルギー | 生後発症性魚鱗癬型紅皮症 | 異所性腎 | 疎な毛髪 | 疎な睫毛 | 疎な頭髪 | 発作 | 発熱エピソード | 皮膚局面 | 皮膚発疹 | 眉毛欠損 | 眼瞼炎 | 知的障害 | 禿頭 | 筋緊張低下 | 粗い毛髪 | 紅斑 | 紅皮症 | 細い毛髪 | 細菌性心内膜炎 | 結節性裂毛症 | 結膜炎 | 絨毛萎縮 | 肝炎 | 肺気腫 | 肺炎 | 胃腸管の反復感染症 | 脂漏性皮膚炎 | 脆い毛髪 | 脆い頭髪 | 脱水 | 腸の異常 | 腸重積 | 腸閉鎖 | 膿疱 | 苔癬化 | 蕁麻疹 | 蜂巣織炎 | 血清補体 C3減少 | 血管性浮腫 | 被刺激性 | 貧血 | 過角化症 | 部分的駅制免疫不全 | 間質性肺臓炎 | 難聴 | 顔面浮腫 | 食餌摂取障害 | 髄膜炎 | 高ナトリウム血症 | 高ナトリウム血症性脱水 | 魚鱗癬 | 黄疸 | 黒色表皮腫 | 鼻炎" ] }, { "id": "NANDO:2200848", "label_en": "Saethre-Chotzen syndrome", "label_ja": "Seather-Chotzen症候群", "yomigana": "せーとれひょつぇんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200848", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [ "Abnormal antihelix morphology | Abnormal cardiovascular system morphology | Abnormal hair pattern | Abnormal heart morphology | Abnormal nasolacrimal system morphology | Abnormal pelvic girdle bone morphology | Abnormal pinna morphology | Abnormal skull morphology | Abnormal vertebral body morphology | Absent first metatarsal | Amblyopia | Autosomal dominant inheritance | Bifid uvula | Bilateral single transverse palmar creases | Blepharospasm | Brachycephaly | Brachydactyly | Breast carcinoma | Broad thumb | Broad toe | Buphthalmos | Cleft of chin | Cleft palate | Clinodactyly of the 5th finger | Conductive hearing impairment | Convex nasal ridge | Coronal craniosynostosis | Craniosynostosis | Cryptorchidism | Delayed cranial suture closure | Depressed nasal bridge | Duplication of the distal phalanx of the hallux | Epicanthus | Facial asymmetry | Finger syndactyly | Flat face | Flat forehead | Hallux valgus | Headache | Hearing impairment | High forehead | Hyperlordosis | Hypertelorism | Hypoplasia of the maxilla | Hypotelorism | Increased intracranial pressure | Intellectual disability | Lacrimal duct stenosis | Lambdoidal craniosynostosis | Long nose | Low anterior hairline | Low-set ears | Malar flattening | Microtia | Migraine | Moderate intellectual disability | Narrow internal auditory canal | Narrow nose | Narrow palate | Open bite | Optic atrophy | Oxycephaly | Parietal foramina | Partial duplication of the distal phalanx of the 2nd finger | Partial duplication of the distal phalanx of the 3rd finger | Plagiocephaly | Prominent crus of helix | Prominent nasal bridge | Proximal radio-ulnar synostosis | Ptosis | Radioulnar synostosis | Scoliosis | Seizure | Sensorineural hearing impairment | Shallow orbits | Short stature | Skull asymmetry | Sleep apnea | Strabismus | Syndactyly | Toe syndactyly | Triphalangeal thumb | Variable expressivity" ], "symptoms_ja_list": [ "三指節母指 | 上顎低形成 | 下顎裂 | 両側性単一手掌横線 | 両眼接近 | 両眼隔離 | 乳房癌 | 二分した口蓋垂 | 人字縫合早期癒合 | 伝音難聴 | 低い前部毛髪線 | 低身長 | 偏頭痛 | 停留精巣 | 側弯 | 内眼角贅皮 | 冠状縫合早期癒合 | 凸の鼻梁 | 前弯 | 口蓋裂 | 合指症 | 合指趾症 | 合趾症 | 塔状頭 | 外反母趾 | 対耳輪の異常 | 小耳 | 常染色体顕性遺伝 | 幅広い母指 | 幅広い趾 | 平坦な頬 | 平坦な額 | 平坦な顔 | 弱視 | 循環器系の形態異常 | 心形態の異常 | 感音難聴 | 斜視 | 斜頭 | 椎体骨形態異常 | 橈尺骨癒合 | 母趾末節骨重複 | 浅い眼窩 | 涙管狭窄 | 牛眼 | 狭い内耳道 | 狭い口蓋 | 狭い鼻 | 異常な毛髪パターン | 発作 | 目立つ耳輪脚 | 目立つ鼻梁 | 眼瞼スパスム | 眼瞼下垂 | 睡眠時無呼吸 | 知的障害 | 知的障害", "中道動脈瘤 | 短指症候群 | 短頭 | 第1中足骨欠損 | 第2指末節骨の部分重複 | 第3指末節骨の部分重複 | 第5指弯指 | 耳介の異常 | 耳介低位 | 落ちくぼんだ鼻梁 | 視神経萎縮 | 近位橈骨-尺骨癒合 | 長い鼻 | 開放咬合 | 難聴 | 頭痛 | 頭蓋内圧の増加 | 頭蓋合骨症 | 頭蓋骨の異常 | 頭蓋骨縫合閉鎖遅延 | 頭蓋骨非対称 | 頭頂孔 | 顔面非対称 | 骨盤帯骨の形態異常 | 高い額 | 鼻涙管の異常" ] }, { "id": "NANDO:1201033", "label_en": "Arginine:glycine amidinotransferase deficiency", "label_ja": "アルギニン・グリシンアミジノ基転移酵素欠損症", "yomigana": "あるぎにん・ぐりしんあみじのきてんいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201033", "notificationNumber": "334", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Atypical behavior | Autism | Autosomal recessive inheritance | Cognitive impairment | Decreased serum creatinine | Delayed speech and language development | Failure to thrive | Gait disturbance | Global developmental delay | Gowers sign | Hypotonia | Infantile onset | Intellectual disability | Muscle weakness | Myopathy | Organic aciduria | Seizure" ], "symptoms_ja_list": [ "Gowers サイン | ミオパチー | 全般性発達遅滞 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 有機酸尿 | 歩行障害 | 発作 | 発語および言語発達遅延 | 知的障害 | 筋緊張低下 | 筋虚弱 | 自閉症 | 血清クレアチニン減少 | 行動異常 | 認知障害" ] }, { "id": "NANDO:2200495", "label_en": "3-methylcrotonyl-CoA carboxylase deficiency", "label_ja": "3-メチルクロトニルCoAカルボキシラーゼ欠損症", "yomigana": "3めちるくろとにるこえーかるぼきしらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200495", "notificationNumber": "103", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Abnormal circulating leucine concentration | Abnormality of movement | Failure to thrive in infancy | Hyperammonemia | Hypoglycemia | Hypotonia | Organic aciduria | Respiratory insufficiency | Spasticity" ], "symptoms_ja_list": [ "ロイシン代謝の異常 | 乳児期の成長障害 (成長不全) | 低血糖 | 呼吸不全 | 大脳血管の異常 | 有機酸尿 | 痙性 | 筋緊張低下 | 運動の異常 | 高アンモニア血症" ] }, { "id": "NANDO:2100234", "label_en": "Congenital myopathy", "label_ja": "先天性ミオパチー", "yomigana": "せんてんせいみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_2100234", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200897", "label_en": "Aicardi-Goutieres syndrome 5", "label_ja": "SAMHD1欠損症", "yomigana": "えすえーえむえいちでぃー1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200897", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100244", "symptoms_en_list": [ "Arthropathy | Autosomal recessive inheritance | Axial hypotonia | Basal ganglia calcification | CSF lymphocytic pleiocytosis | Chilblains | Childhood onset | Congenital onset | Deep white matter hypodensities | Dry skin | Feeding difficulties in infancy | Flexion contracture | Global developmental delay | Infantile onset | Intracerebral periventricular calcifications | Irritability | Leukodystrophy | Leukoencephalopathy | Microcephaly | Neonatal onset | Spasticity | Thrombocytopenia" ], "symptoms_ja_list": [ "ロイコジストロフィー | 乾いた皮膚 | 体幹の筋緊張低下 | 全般性発達遅滞 | 凍瘡病変 | 基底核石灰化 | 大脳内脳室周囲石灰化 | 小頭 | 屈曲拘縮 | 常染色体潜性遺伝 | 深部白質低濃度 | 痙性 | 白質脳症 | 血小板減少 | 被刺激性 | 関節症 | 食餌摂取障害 in infancy | 髄液リンパ球増多症" ] }, { "id": "NANDO:1201109", "label_en": "very long-chain acyl-CoA dehydrogenase", "label_ja": "極長鎖アシル-CoA 脱水素酵素欠損症", "yomigana": "ごくちょうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201109", "notificationNumber": "344", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Anteriorly placed anus | Arrhythmia | Atrial septal defect | Atrioventricular block | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Cardiomegaly | Death in infancy | Decreased circulating carnitine concentration | Dicarboxylic aciduria | Dilated cardiomyopathy | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Enlarged cisterna magna | Episodic tachypnea | Episodic vomiting | Exercise-induced myalgia | Exercise-induced myoglobinuria | Exercise-induced rhabdomyolysis | Feeding difficulties | Floppy infant | Gastroesophageal reflux | Hepatic steatosis | Hepatocellular necrosis | Hepatomegaly | Hyperammonemia | Hypertrophic cardiomyopathy | Hypocalcemia | Hypoketotic hypoglycemia | Hypoproteinemia | Hypothermia | Hypotonia | Infantile onset | Inflammatory abnormality of the skin | Jaundice | Lethargy | Macrocephaly | Metabolic acidosis | Microcephaly | Muscle spasm | Muscle stiffness | Muscle weakness | Neonatal onset | Nonketotic hypoglycemia | Obesity | Pain | Patent foramen ovale | Pericardial effusion | Periportal fibrosis | Pneumonia | Prolonged QT interval | Reduced left ventricular ejection fraction | Respiratory arrest | Respiratory distress | Small for gestational age | Sudden cardiac death | Tachycardia | Tachypnea | Ventricular fibrillation | Ventricular septal defect | Ventricular tachycardia | Vomiting" ], "symptoms_ja_list": [ "ジカルボン酸尿 | 不整脈 | 乳児筋性筋緊張低下 | 代謝性アシドーシス | 低カルシウム血症 | 低ケトン性低血糖 | 低タンパク血症 | 低体温 | 全身性間代性強直性発作 | 前方位肛門 | 卵円孔開存 | 呼吸停止 | 呼吸窮迫 | 嘔吐 | 嘔吐エピソード | 在胎月齢より小さい児 | 多呼吸 | 多呼吸エピソード | 大槽拡大 | 大頭 | 小頭 | 常染色体潜性遺伝 | 心外膜滲出液 | 心室中隔欠損 | 心室性 頻拍 | 心室細動 | 心房中隔欠損 | 心拡大 | 房室ブロック | 拡張型心筋症 | 無気力 | 疼痛 | 皮膚の炎症性異常 | 突然心臓死 | 筋けいれん | 筋硬直 | 筋緊張低下 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝細胞壊死 | 肝腫 | 肥大型心筋症 | 肥満 | 肺炎 | 胃食道逆流 | 脂肪肝 | 血清 creatine phosphokinase上昇 | 血漿カルニチン減少 | 運動誘発性ミオグロビン尿 | 運動誘発性横紋筋融解 | 運動誘発性筋痛 | 遷延性 QT 間隔 | 門脈周囲線維症 | 非ケトン性低血糖 | 頻拍 | 食餌摂取障害 | 駆出分画減少 | 高アンモニア血症 | 黄疸" ] }, { "id": "NANDO:1201031", "label_en": "obsolete Acute diffuse membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 急性・びまん型膜性増殖性糸球体腎炎", "yomigana": "きゅうせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201031", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200582", "label_en": "Salla disease", "label_ja": "サラ病", "yomigana": "さらびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200582", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Ataxia | Athetosis | Autosomal recessive inheritance | Delayed speech and language development | Dysarthria | Exotropia | Generalized hypotonia | Global developmental delay | Growth delay | Hypotonia | Inability to walk | Intellectual disability | Nystagmus | Seizure | Spasticity | Thickened calvaria | Vacuolated lymphocytes" ], "symptoms_ja_list": [ "アテトーゼ | 代謝/ホメオスターシスの異常 | 全般性発達遅滞 | 全身性筋緊張低下 | 分厚い頭蓋冠 | 外斜視 | 常染色体潜性遺伝 | 成長遅滞 | 構音障害 | 歩行不能 | 痙性 | 発作 | 発語および言語発達遅延 | 眼振 | 知的障害 | 空胞化リンパ球 | 筋緊張低下 | 運動失調" ] }, { "id": "NANDO:1200784", "label_en": "Phenylketonuria", "label_ja": "フェニルケトン尿症", "yomigana": "ふぇにるけとんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200784", "notificationNumber": "240", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal cerebral white matter morphology | Aggressive behavior | Anxiety | Ataxia | Attention deficit hyperactivity disorder | Atypical behavior | Autosomal recessive inheritance | Blue irides | Cataract | Cerebral calcification | Cerebral visual impairment | Compulsive behaviors | Dementia | Depression | Dry skin | EEG abnormality | Eczematoid dermatitis | Encephalopathy | Fair hair | Generalized hypopigmentation | Global developmental delay | Growth delay | Hyperactivity | Hyperphenylalaninemia | Hyperreflexia | Hypopigmentation of the skin | Intellectual disability | Irritability | Lower limb spasticity | Maternal hyperphenylalaninemia | Microcephaly | Osteopenia | Phenylpyruvic acidemia | Pregnancy history | Psychosis | Reduced phenylalanine hydroxylase level | Scleroderma | Seizure | Self-mutilation | Severe intellectual disability | Short attention span | Specific learning disability | Tremor" ], "symptoms_ja_list": [ "Dementia | phenylalanine hydroxylase 活性減少 | うつ | フェニルピルビン酸酸血症 | 下肢痙性 | 不安 | 乾いた皮膚 | 全般性発達遅滞 | 全身性低色素 | 出生前の母体異常 | 反射亢進 | 多動 | 大脳白質の異常 | 大脳石灰化 | 小頭 | 常染色体潜性遺伝 | 強皮症 | 強迫性行動 | 循環器系の形態異常 | 成長遅滞 | 振戦 | 攻撃的行動 | 母体高フェニールアラニン結晶 | 注意力欠陥多動性疾患 | 湿疹 | 特異的学習障害 | 発作 | 白内障 | 皮膚低色素 | 皮質性視力障害 | 知的障害 | 知的障害", "重度 | 短い注意期間 | 精神病 | 脳波異常 | 脳症 | 自己切断 | 行動異常 | 被刺激性 | 運動失調 | 金髪 | 青色虹彩 | 骨減少症 | 高フェニールアラニン血症" ] }, { "id": "NANDO:2200317", "label_en": "Congenital growth hormone deficiency", "label_ja": "器質的成長ホルモン分泌不全性低身長症", "yomigana": "きしつてきせいちょうほるもんぶんぴつふぜんせいていしんちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200317", "notificationNumber": "45", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100113", "symptoms_en_list": [ "Abdominal obesity | Abnormally high-pitched voice | Anterior hypopituitarism | Decreased muscle mass | Decreased response to growth hormone stimulation test | Delayed puberty | Delayed skeletal maturation | Depressed nasal bridge | Doll-like facies | Genu valgum | Growth delay | Neonatal hypoglycemia | Premature skin wrinkling | Prolonged neonatal jaundice | Prominent forehead | Short stature | Sparse hair" ], "symptoms_ja_list": [ "下垂体前葉機能低下症 | 人形様顔貌 | 低身長 | 外反膝 | 思春期遅発 | 成長ホルモン欠乏症 | 成長遅滞 | 新生児低血糖 | 早発性皮膚皺 | 疎な毛髪 | 目立つ額 | 筋量減少 | 腹部肥満 | 落ちくぼんだ鼻梁 | 遷延性新生児黄疸 | 骨格骨化遅延 | 高音の声" ] }, { "id": "NANDO:1200891", "label_en": "Fanconi anemia", "label_ja": "ファンコニ貧血", "yomigana": "ふぁんこにひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200891", "notificationNumber": "285", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal aortic morphology | Abnormal aortic valve morphology | Abnormal cardiac septum morphology | Abnormal carotid artery morphology | Abnormal eyelid morphology | Abnormal femur morphology | Abnormal foot morphology | Abnormal localization of kidney | Abnormal nervous system morphology | Abnormal pinna morphology | Abnormal preputium morphology | Abnormal renal morphology | Abnormal skin pigmentation | Abnormal testis morphology | Abnormal thumb morphology | Abnormality of blood and blood-forming tissues | Abnormality of chromosome stability | Abnormality of the eye | Abnormality of the hypothalamus-pituitary axis | Abnormality of the liver | Abnormality of the upper limb | Abnormality of the urinary system | Abnormality of the uterus | Abnormality of vision | Absent testis | Aganglionic megacolon | Almond-shaped palpebral fissure | Anal atresia | Anemia | Aplasia/Hypoplasia of fingers | Aplasia/Hypoplasia of the iris | Aplasia/Hypoplasia of the radius | Aplasia/Hypoplasia of the uvula | Arteriovenous malformation | Astigmatism | Atrial septal defect | Azoospermia | Bicornuate uterus | Cataract | Choanal atresia | Cleft palate | Clinodactyly of the 5th finger | Clubbing of toes | Cranial nerve paralysis | Cryptorchidism | Decreased fertility in males | Decreased total leukocyte count | Dolichocephaly | Duodenal stenosis | Epicanthus | Facial asymmetry | Finger syndactyly | Frontal bossing | Global developmental delay | Growth delay | Hearing abnormality | Hearing impairment | High palate | Hip dislocation | Hydrocephalus | Hydroureter | Hyperreflexia | Hypertelorism | Hypertrophic cardiomyopathy | Hypogonadism | Hypopigmented skin patches | Hypoplasia of the ulna | Hypospadias | Intellectual disability | Intrauterine growth retardation | Irregular hyperpigmentation | Meckel diverticulum | Microcephaly | Micrognathia | Microphthalmia | Multiple cafe-au-lait spots | Myelodysplasia | Neoplasm | Nystagmus | Oligohydramnios | Patent ductus arteriosus | Pes planus | Proptosis | Ptosis | Pyridoxine-responsive sideroblastic anemia | Recurrent urinary tract infections | Reduced bone mineral density | Renal hypoplasia/aplasia | Renal insufficiency | Scoliosis | Short palpebral fissure | Short stature | Sloping forehead | Spina bifida | Strabismus | Tetralogy of Fallot | Thrombocytopenia | Toe syndactyly | Tracheoesophageal fistula | Triphalangeal thumb | Umbilical hernia | Upslanted palpebral fissure | Ventriculomegaly | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "Fallot 四徴症 | Meckel 憩室 | ばち趾 | アーモンド型眼瞼裂 | ピリドキシン反応性鉄芽球性貧血 | 三指節母指 | 上肢の異常 | 不規則な高色素 | 両眼隔離 | 乱視 | 二分脊椎 | 低色素性皮膚斑 | 低身長 | 体重喪失 | 停留精巣 | 側弯 | 全般性発達遅滞 | 内眼角贅皮 | 前頭突出", "額突出 | 動脈管開存症 | 動静脈奇形 | 包皮異常 | 十二指腸狭窄 | 双角子宮 | 反射亢進 | 反復性尿路感染症 | 口蓋垂の無形成/低形成 | 口蓋裂 | 合指症 | 合趾症 | 多発性カフェオーレ斑 | 大動脈の異常 | 大動脈弁の異常 | 大腿骨の異常 | 子宮内成長遅滞 | 子宮異常 | 小眼球 | 小頭 | 小顎 | 尺骨低形成 | 尿路異常 | 尿道下裂 | 後鼻孔閉鎖 | 心中隔 | 心房中隔欠損 | 性腺機能低下症 | 成長遅滞 | 扁平足 | 指の無形成/低形成 | 斜視 | 新生物 | 染色体安定性の異常 | 橈骨無形成/低形成 | 母指の異常 | 気管食道瘻 | 水尿管症 | 水頭症 | 無神経節性巨大結腸 | 無精子症 | 男性の妊孕性減少 | 白内障 | 白血球減少症 | 皮膚色素の異常 | 眼の異常 | 眼振 | 眼球突出 | 眼瞼の異常 | 眼瞼下垂 | 眼瞼裂斜上 | 知的障害 | 短い眼瞼裂 | 神経系形態の異常 | 第5指弯指 | 精巣無形成 | 精巣異常 | 羊水過少 | 耳介の異常 | 聴覚異常 | 肝の異常 | 股関節脱臼 | 肥大型心筋症 | 脳室拡大 | 脳神経麻痺 | 腎不全 | 腎位置異常 | 腎低形成/無形成 | 腎形態異常 | 臍ヘルニア | 虹彩無形成/低形成 | 血小板減少 | 血液および血液痙性組織の異常 | 視力障害 | 視床下部-下垂体軸異常 | 視覚の異常 | 貧血 | 足の異常 | 鎖肛 | 長頭 | 難聴 | 頸動脈の異常 | 額傾斜 | 顔面非対称 | 骨ミネラル濃度減少 | 骨髄異形成 | 高口蓋" ] }, { "id": "NANDO:1200379", "label_en": "Cushing disease", "label_ja": "クッシング病", "yomigana": "くっしんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200379", "notificationNumber": "75", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abdominal obesity | Abnormal fear-induced behavior | Abnormality of the cardiovascular system | Abnormality of the respiratory system | Acne | Adrenal hyperplasia | Alkalosis | Amenorrhea | Atypical behavior | Autosomal dominant inheritance | Autosomal recessive inheritance | Avascular necrosis | Biconcave vertebral bodies | Bruising susceptibility | Decreased total lymphocyte count | Dementia | Depression | Diabetes mellitus | Edema | Emotional lability | Facial erythema | Glucose intolerance | Headache | Hirsutism | Hyperpigmentation of the skin | Hypertension | Hypokalemia | Immunodeficiency | Increased body weight | Increased circulating ACTH level | Increased circulating cortisol level | Increased total leukocyte count | Increased urinary cortisol level | Intra-oral hyperpigmentation | Kidney stone | Kyphosis | Large sella turcica | Memory impairment | Muscle weakness | Myocardial infarction | Obesity | Oligomenorrhea | Optic nerve compression | Osteoporosis | Paradoxical increased cortisol secretion on dexamethasone suppression test | Paranoia | Pedal edema | Pituitary adenoma | Pituitary corticotropic cell adenoma | Plethora | Poor wound healing | Proximal amyotrophy | Psychosis | Psychotic episodes | Psychotic mentation | Purpura | Recurrent cutaneous fungal infections | Secondary amenorrhea | Skeletal muscle atrophy | Skin ulcer | Sparse scalp hair | Striae distensae | Stroke | Thin skin | Truncal obesity | Vertebral compression fracture | Visual field defect" ], "symptoms_ja_list": [ "?瘡 | Dementia | うつ | アルカローシス | デキサメサゾン抑制試験での逆説的コルチゾール分泌の増加 | パラノイア | リンパ球減少症 | 下垂体副腎皮質刺激ホルモン分泌細胞腺腫 | 下垂体腺腫 | 両凹の椎体骨 | 二次性無月経 | 伸展線 | 低カリウム血症 | 体幹肥満 | 体重増加 | 傷治癒不全 | 免疫不全 | 出血傾向 | 副腎過形成 | 卒中 | 反復性皮膚カビ感染症 | 口腔内高色素 | 呼吸器の異常 | 多毛 | 多血症 | 大きなトルコ鞍 | 尿中コルチゾール 値増加 | 希発月経 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 後弯 | 循環性ACTH 値増加 | 循環性コルチゾール 値増加 | 心筋梗塞 | 心血管系 | 情動不安定 | 浮腫 | 浮腫 (下肢) | 無月経 | 無菌性壊死 | 異常な恐怖/不安関連行動 | 疎な頭髪 | 白血球増多症 | 皮膚潰瘍 | 皮膚高色素 | 筋萎縮 | 筋虚弱 | 精神病 | 精神病エピソード | 精神病的精神機能 | 糖尿病 | 紫斑 | 耐糖能異常 | 肥満 | 脊椎圧迫骨折 | 腎結石 | 腹部肥満 | 薄い皮膚 | 行動異常 | 視神経神経圧迫 | 視野障害 | 記憶障害 | 近位筋萎縮 | 頭痛 | 顔面紅斑 | 骨粗鬆症 | 高血圧" ] }, { "id": "NANDO:1200295", "label_en": "Aplastic anemia", "label_ja": "再生不良性貧血", "yomigana": "さいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200295", "notificationNumber": "60", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Aplastic anemia | Bone marrow hypocellularity" ], "symptoms_ja_list": [ "再生不良性貧血 | 骨髄細胞数増多" ] }, { "id": "NANDO:2200625", "label_en": "Unstable hemoglobin disease", "label_ja": "不安定ヘモグロビン症", "yomigana": "ふあんていへもぐろびんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200625", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200735", "label_en": "obsolete Acute diffuse moderate membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 中等度急性・びまん型膜性増殖性糸球体腎炎", "yomigana": "ちゅうとうどきゅうせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200735", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200409", "label_en": "obsolete MRAP deficiency", "label_ja": "obsolete MRAP異常症", "yomigana": "えむあーるえーぴーいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200409", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200009", "label_en": "Progressive supranuclear palsy", "label_ja": "進行性核上性麻痺", "yomigana": "しんこうせいかくじょうせいまひ", "url": "http://nanbyodata.jp/ontology/NANDO_1200009", "notificationNumber": "5", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal synaptic transmission | Abnormality of eye movement | Apathy | Aphasia | Blepharospasm | Bradykinesia | Cerebral cortical atrophy | Cognitive impairment | Delayed speech and language development | Dementia | Depression | Dysarthria | Dysphagia | Dystonia | Emotional lability | Falls | Gliosis | Impulsivity | Irritability | Memory impairment | Neuronal loss in central nervous system | Postural instability | Pseudobulbar signs | Rigidity | Slow saccadic eye movements | Supranuclear gaze palsy | Supranuclear ophthalmoplegia | Tremor | Unsteady gait | Vertical supranuclear gaze palsy | Vertigo | Visual impairment" ], "symptoms_ja_list": [ "Dementia | うつ | ジストニア | 不安定歩行 | 中枢神経のニューロン喪失 | 偽性球麻痺サイン | 嚥下障害 | 垂直性核上性注視麻痺 | 大脳皮質萎縮 | 失語症 | 姿勢不安定 | 情動不安定 | 振戦 | 核上性注視麻痺 | 核上性眼筋麻痺 | 構音障害 | 無関心", "感情鈍磨 | 異常なシナプス伝達 | 発語および言語発達遅延 | 眩暈 | 眼瞼スパスム | 眼運動の異常 | 硬直 | 神経膠症 | 緩徐なサッカード性眼球運動 | 衝動性 | 被刺激性 | 視力障害 | 記憶障害 | 認知障害 | 転倒 | 運動緩徐" ] }, { "id": "NANDO:1200191", "label_en": "Fatal familial insomnia", "label_ja": "致死性家族性不眠症", "yomigana": "ちしせいかぞくせいふみんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200191", "notificationNumber": "23", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal pineal melatonin secretion | Abnormal pyramidal sign | Abnormality of extrapyramidal motor function | Adult onset | Anxiety | Apnea | Ataxia | Autosomal dominant inheritance | Cerebral cortex with spongiform changes | Cognitive impairment | Constipation | Dementia | Depression | Diplopia | Dysarthria | Dysphagia | EEG with spike-wave complexes | Emotional lability | Epiphora | Fever | Hallucinations | Hyperhidrosis | Hypertension | Increased circulating cortisol level | Insomnia | Laryngeal stridor | Loss of speech | Myoclonus | Neuronal loss in central nervous system | Sleep apnea | Sleep-wake cycle disturbance | Tachycardia | Thalamic hypometabolism in FDG PET | Urinary retention | Weight loss" ], "symptoms_ja_list": [ "Dementia | FDG PETでの視床代謝低下 | うつ | ミオクローヌス | 不安 | 不眠 | 中枢神経のニューロン喪失 | 体重喪失 | 便秘 | 喉頭喘鳴 | 嚥下障害 | 多汗 | 尿閉 | 常染色体顕性遺伝 | 幻覚 | 循環性コルチゾール 値増加 | 情動不安定 | 棘波複合を伴う脳波 | 構音障害 | 流涙の増加 | 海綿状変化を伴う大脳皮質 | 無呼吸 | 異常な松果体メラトニン分泌 | 異常な自律神経生理 | 発熱 | 発語喪失 | 睡眠-覚醒周期障害 | 睡眠時無呼吸 | 複視 | 認知障害 | 運動失調 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 頻拍 | 高血圧" ] }, { "id": "NANDO:1200583", "label_en": "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "label_ja": "小脳萎縮と脳梁低形成を伴うび漫性大脳白質形成不全症", "yomigana": "しょうのういしゅくとのうりょうていけいせいをともなうびまんせいだいのうはくしつけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200583", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201211", "label_en": "Gaucher disease type 2", "label_ja": "ゴーシェ病2型", "yomigana": "ごーしぇびょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201211", "notificationNumber": "115", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal pattern of respiration | Abnormal pulmonary interstitial morphology | Anemia | Apnea | Arthrogryposis multiplex congenita | Autosomal recessive inheritance | Bulbar signs | Cardiac arrest | Cerebral atrophy | Congenital nonbullous ichthyosiform erythroderma | Cough | Death in infancy | Decreased beta-glucocerebrosidase level | Double aortic arch | Dysphagia | Dyspnea | Dystonia | Encephalopathy | Esotropia | Failure to thrive | Feeding difficulties | Flexion contracture | Gastroesophageal reflux | Generalized myoclonic seizure | Global developmental delay | Hepatomegaly | Hyperreflexia | Hypertonia | Hypotonia | Ichthyosis | Infantile onset | Irritability | Nonimmune hydrops fetalis | Oculomotor apraxia | Ophthalmoplegia | Opisthotonus | Progressive neurologic deterioration | Progressive psychomotor deterioration | Protuberant abdomen | Recurrent aspiration pneumonia | Recurrent respiratory infections | Respiratory distress | Rigidity | Seizure | Spasticity | Splenomegaly | Strabismus | Stridor | Supranuclear gaze palsy | Thrombocytopenia | Trismus | Unusual bronchiolitis | Vomiting" ], "symptoms_ja_list": [ "β-グルコセレブロシダーゼタンパクと活性の減少 | ジストニア | 先天性多発性関節拘縮 | 先天性非水泡性魚鱗癬型紅皮症 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 内斜視 | 反射亢進 | 反復性呼吸器感染症 | 反復性誤嚥性肺炎 | 呼吸パターンの異常 | 呼吸困難 | 呼吸窮迫 | 喘鳴 | 嘔吐 | 嚥下障害 | 外層 | 大脳萎縮 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弓反張 | 心停止 | 成長障害 (成長不全) | 斜視 | 核上性注視麻痺 | 無呼吸 | 球症状 | 痙性 | 発作 | 眼球運動失行症 | 眼筋麻痺 | 硬直 | 筋緊張亢進 | 筋緊張低下 | 細気管支炎 | 肝腫 | 胃食道逆流 | 脳症 | 脾腫 | 腹部突出 | 血小板減少 | 被刺激性 | 貧血 | 進行性神経学的悪化 | 進行性精神運動発達悪化 | 重複大動脈弓 | 開口障害 (牙関緊急) | 間質性肺疾患 | 非免疫性胎児水腫 | 食餌摂取障害 | 魚鱗癬" ] }, { "id": "NANDO:2200573", "label_en": "Neuronal ceroid lipofuscinoses", "label_ja": "神経セロイドリポフスチン症", "yomigana": "しんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200573", "notificationNumber": "121", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200605", "label_en": "Atypical Rett syndrome", "label_ja": "非典型的レット症候群", "yomigana": "ひてんけいてきれっとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200605", "notificationNumber": "156", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal muscle tone | Abnormal pattern of respiration | Abnormality of movement | Agitation | Apraxia | Autistic behavior | Delayed gross motor development | Developmental regression | Developmental stagnation | Dystonia | EEG abnormality | Episodic tachypnea | Feeding difficulties | Functional abnormality of the gastrointestinal tract | Functional motor deficit | Gait ataxia | Gait disturbance | Generalized myoclonic seizure | Growth delay | Hypotonia | Impaired pain sensation | Inability to walk | Inappropriate laughter | Infantile spasms | Intellectual disability | Involuntary movements | Kyphosis | Loss of ambulation | Loss of speech | Mild intellectual disability | Mutism | Neonatal hypotonia | Reduced eye contact | Reduced social responsiveness | Restrictive behavior | Scoliosis | Secondary microcephaly | Seizure | Severe global developmental delay | Short foot | Sleep disturbance | Small hand | Spasticity | Stereotypical hand wringing | Sudden episodic apnea | Tongue thrusting | Total ophthalmoplegia | Tremor" ], "symptoms_ja_list": [ "ジストニア | 不穏 | 不適切な笑い | 不随意運動 | 乳児スパスム | 側弯 | 全眼筋麻痺 | 全身性ミオクローヌス発作 | 呼吸パターンの異常 | 多呼吸エピソード | 失行症 | 小さい手 | 常同的手絞り動作 | 後弯 | 成長遅滞 | 拘束性行動r | 振戦 | 新生児筋緊張低下 | 機能的筋異常 | 歩行不能 | 歩行失調 | 歩行障害 | 無言症 | 生後の小頭 | 異常な筋緊張 | 痙性 | 痛覚障害 | 発作 | 発語喪失 | 発達停滞 | 発達退行 | 眼があわない | 睡眠障害 | 知的障害 | 知的障害", "軽度 | 短い足 | 社会的相互関係障害 | 突然無呼吸エピソード | 筋緊張低下 | 粗大運動発達遅延 | 胃腸管機能異常 | 脳波異常 | 自閉性行動 | 舌突出 | 進行性歩行不安定 | 運動の異常 | 重度の全般性発達遅滞 | 食餌摂取障害" ] }, { "id": "NANDO:1200818", "label_en": "X-linked dominant protoporphyria", "label_ja": "X連鎖優性プロトポルフィリン症", "yomigana": "えっくすれんさゆうせいぷろとぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200818", "notificationNumber": "254", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Childhood onset | Cholelithiasis | Cutaneous photosensitivity | Elevated circulating hepatic transaminase concentration | Increased erythrocyte protoporphyrin concentration | Iron deficiency anemia | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | 皮膚光線過敏症 | 肝トランスアミナーゼ上昇 | 胆石症 | 赤血球プロトポルフィリン濃度増加 | 鉄欠乏症貧血" ] }, { "id": "NANDO:1200702", "label_en": "Complete transposition of the great arteries (Group3)", "label_ja": "完全大血管転位症III型", "yomigana": "かんぜんだいけっかんてんいしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200702", "notificationNumber": "209", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200171", "label_en": "Addison-only adrenoleukodystrophy", "label_ja": "アジソン型副腎白質ジストロフィー", "yomigana": "あじそんがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200171", "notificationNumber": "20", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201123", "label_en": "Hereditary gelsolin amyloidosis", "label_ja": "遺伝性ゲルソリンアミロイドーシス", "yomigana": "いでんせいげるそりんあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201123", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201169", "label_en": "Scheie disease", "label_ja": "Scheie病", "yomigana": "しゃいえびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201169", "notificationNumber": "129", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormality of the skeletal system | Aortic regurgitation | Aortic valve stenosis | Autosomal recessive inheritance | Broad face | Cerebral palsy | Cervical cord compression | Coarse facial features | Constrictive median neuropathy | Corneal opacity | Depressed nasal bridge | Dysostosis multiplex | Everted lower lip vermilion | Full cheeks | Genu valgum | Glaucoma | Hepatomegaly | Intellectual disability | Joint stiffness | Limitation of joint mobility | Mandibular prognathia | Mitral stenosis | Mucopolysacchariduria | Obstructive sleep apnea | Pes cavus | Retinal degeneration | Rhinitis | Sensorineural hearing impairment | Short neck | Spastic paraparesis | Splenomegaly | Spondylolisthesis | Thick vermilion border | Wide mouth | Wide nose" ], "symptoms_ja_list": [ "ムコ多糖症 | 下口唇唇紅部外反 | 下顎突出 | 僧帽弁狭窄 | 凹足 | 分厚い唇紅部縁 | 収縮性正中神経ニューロパチー | 外反膝 | 多発性異骨症 | 大きな頬 | 大動脈弁狭窄 | 大動脈逆流 | 常染色体潜性遺伝 | 幅広い口 | 幅広い顔 | 幅広い鼻 | 感音難聴 | 痙性対不全麻痺 | 知的障害 | 短い頸部 | 粗な顔貌 | 網膜変性 | 緑内障 | 肝腫 | 脊椎すべり症 | 脳性麻痺 | 脾腫 | 落ちくぼんだ鼻梁 | 角膜混濁 | 閉塞性睡眠時無呼吸 | 関節拘縮 | 関節運動制限 | 頚髄圧迫 | 骨格の異常 | 鼻炎" ] }, { "id": "NANDO:1200284", "label_en": "Behcet's disease", "label_ja": "ベーチェット病", "yomigana": "べーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200284", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal blistering of the skin | Abnormal myocardium morphology | Abnormal pyramidal sign | Acne | Anorexia | Aortic regurgitation | Arterial thrombosis | Arthralgia | Arthritis | Ataxia | Atypical behavior | Autosomal recessive inheritance | Avascular necrosis | Blindness | Cataract | Cerebral ischemia | Chorioretinitis | Confusion | Cranial nerve paralysis | Developmental regression | Diarrhea | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Endocarditis | Epididymitis | Erythema | Erythema nodosum | Fatigue | Fever | Gait disturbance | Gangrene | Gastrointestinal hemorrhage | Genital ulcers | Glomerulonephritis | Glomerulopathy | Headache | Hemiparesis | Hemoptysis | Hyperreflexia | Immunologic hypersensitivity | Increased inflammatory response | Increased intracranial pressure | Infectious encephalitis | Iridocyclitis | Iritis | Irritability | Keratoconjunctivitis sicca | Lymphadenopathy | Malabsorption | Memory impairment | Meningitis | Migraine | Mitral regurgitation | Myalgia | Myocardial infarction | Myocarditis | Myositis | Nausea and vomiting | Nongranulomatous uveitis | Optic neuritis | Oral ulcer | Orchitis | Pancreatitis | Panuveitis | Papule | Paresthesia | Patchy alopecia | Pericarditis | Photophobia | Pleural effusion | Pleuritis | Pulmonary embolism | Pulmonary infiltrates | Pustule | Recurrent aphthous stomatitis | Recurrent fever | Renal insufficiency | Retinopathy | Retrobulbar optic neuritis | Seizure | Splenomegaly | Subcutaneous nodule | Superficial thrombophlebitis | Vasculitis | Venous thrombosis | Vertigo | Weight loss" ], "symptoms_ja_list": [ "?瘡 | CRP 上昇 | リンパ節腫大 | 下痢 | 丘疹 | 乾燥性 | 体重喪失 | 偏頭痛 | 僧帽弁逆流 | 免疫学的過敏性 | 動脈血栓症 | 反射亢進 | 反復性アフタ性口内炎 | 口腔潰瘍 | 吐気と 嘔吐 | 吸収障害 | 喀血 | 壊疽 | 大動脈逆流 | 大脳虚血 | 常染色体潜性遺伝 | 心内膜炎 | 心外膜炎 | 心筋の異常 | 心筋梗塞 | 心筋炎 | 性器潰瘍 | 感覚異常 | 斑状禿頭 | 歩行障害 | 汎ブドウ膜炎 | 炎症反応増加 | 無菌性壊死 | 片側不全麻痺 | 異常な皮膚水泡 | 疲労 | 発作 | 発熱 | 発熱エピソード | 発達退行 | 白内障 | 皮下結節 | 盲 | 眩暈 | 眼球後部視神経炎 | 筋炎 | 筋痛 | 精巣上体炎 | 精巣炎 | 糸球体症 | 糸球体腎炎 | 紅斑 | 結節性紅斑 | 網膜症 | 羞明 | 肺塞栓症 | 肺浸潤 | 胃腸出血 | 胸膜滲出液 | 胸膜炎 | 脈絡膜網膜炎 | 脳炎 | 脳神経麻痺 | 脾腫 | 腎不全 | 腹痛 | 膵炎 | 膿疱 | 虹彩毛様体炎 | 虹彩炎 | 血管炎 | 行動異常 | 表在性血栓性静脈炎 | 被刺激性 | 視神経炎 | 記憶障害 | 赤沈値上昇 | 運動失調 | 錐体路運動機能の異常 | 錯乱 | 関節炎 | 関節痛 | 静脈血栓症 | 非肉芽腫性ブドウ膜炎 | 頭痛 | 頭蓋内圧の増加 | 食思不振 | 髄膜炎" ] }, { "id": "NANDO:2201352", "label_en": "Mild spondyloepiphyseal dysplasia with premature-onset arthrosis", "label_ja": "早発性関節症を伴う軽症脊椎骨端異形成症", "yomigana": "そうはつせいかんせつしょうをともなうけいしょうせきついこったんいけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201352", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Arthralgia | Autosomal dominant inheritance | Beaking of vertebral bodies | Heberden node | Hip osteoarthritis | Irregular vertebral endplates | Joint stiffness | Juvenile onset | Knee osteoarthritis | Platyspondyly | Short stature | Young adult onset" ], "symptoms_ja_list": [ "Heberden 結節 | くちばし状椎体骨 | 不規則な脊椎終板 | 低身長 | 常染色体顕性遺伝 | 扁平脊椎 | 股関節骨関節炎 | 膝骨関節炎 | 関節拘縮 | 関節痛" ] }, { "id": "NANDO:2000001", "label_en": "Specific pediatric chronic disease", "label_ja": "小児慢性特定疾病", "yomigana": "しょうにまんせいとくていしっぺい", "url": "http://nanbyodata.jp/ontology/NANDO_2000001", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1100014", "label_en": "Chromosome abnormality", "label_ja": "染色体または遺伝子に変化を伴う症候群", "yomigana": "せんしょくたいまたはいでんしにへんかをともなうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1100014", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200759", "label_en": "Mendelian susceptibility to mycobacterial disease", "label_ja": "メンデル遺伝型マイコバクテリア易感染症", "yomigana": "めんでるいでんがたまいこばくてりあいかんせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200759", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200476", "label_en": "Nonketotic hyperglycinemia", "label_ja": "非ケトーシス型高グリシン血症", "yomigana": "ひけとーしすがたこうぐりしんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200476", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal metabolic brain imaging by MRS | Breathing dysregulation | EEG abnormality | EEG with burst suppression | Generalized myoclonic seizure | Hyperglycinemia | Hypoplasia of the corpus callosum | Hypotonia | Lethargy | Poor suck | Recurrent singultus | Respiratory acidosis | Seizure" ], "symptoms_ja_list": [ "MRSでの異常な代謝性脳画像 | 全身性ミオクローヌス発作 | 反復性しゃっくり | 吸啜不全 | 呼吸調節障害 | 活性減少アシドーシス | 無気力 | 発作 | 筋緊張低下 | 群発‐抑制交代を伴う脳波 | 脳梁低形成 | 脳波異常 | 高グリシン血症" ] }, { "id": "NANDO:2201327", "label_en": "Type I biliary atresia", "label_ja": "I型胆道閉鎖症", "yomigana": "1がたたんどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201327", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200731", "label_en": "obsolete Chronic diffuse moderate membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 軽度慢性・びまん型膜性増殖性糸球体腎炎", "yomigana": "けいどまんせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200731", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:0000002", "label_en": "obsolete class", "label_ja": "obsolete class", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_0000002", "notificationNumber": "", "obsolete": 1, "category": "other", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201030", "label_en": "obsolete Chronic diffuse membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 慢性・びまん型膜性増殖性糸球体腎炎", "yomigana": "まんせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201030", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200789", "label_en": "Tyrosinemia type 2", "label_ja": "高チロシン血症2型", "yomigana": "こうちろしんけっしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200789", "notificationNumber": "242", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "4-Hydroxyphenylpyruvic aciduria | Abnormal nail morphology | Abnormal speech pattern | Abnormality of amino acid metabolism | Abnormality of the skin | Ataxia | Atypical behavior | Autosomal recessive inheritance | Corneal opacity | Growth delay | Herpetiform corneal ulceration | Hyperhidrosis | Hyperkeratosis | Hypertyrosinemia | Intellectual disability | Malar flattening | Microcephaly | Nystagmus | Palmoplantar keratoderma | Photophobia | Seizure | Tremor | Visual loss" ], "symptoms_ja_list": [ "4-ヒドロキシフェニルピルビン酸尿 | アミノ酸代謝の異常 | ヘルペス型角膜潰瘍 | 多汗 | 小頭 | 常染色体潜性遺伝 | 平坦な頬 | 成長遅滞 | 振戦 | 掌蹠角皮症 | 爪の異常 | 発作 | 皮膚の異常 | 眼振 | 知的障害 | 神経学的発語障害 | 羞明 | 行動異常 | 視力喪失 | 角膜混濁 | 運動失調 | 過角化症 | 高チロシン血症" ] }, { "id": "NANDO:2201232", "label_en": "Wolman disease", "label_ja": "ウォルマン病", "yomigana": "うぉるまんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201232", "notificationNumber": "116", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abdominal distention | Acute hepatic failure | Adrenal calcification | Adrenal insufficiency | Anemia | Ascites | Autosomal recessive inheritance | Bone-marrow foam cells | Cachexia | Death in infancy | Esophageal varix | Failure to thrive | Fever | Global developmental delay | Growth delay | Hepatic failure | Hepatomegaly | Infantile onset | Malnutrition | Nausea and vomiting | Splenomegaly | Steatorrhea | Vomiting" ], "symptoms_ja_list": [ "全般性発達遅滞 | 副腎不全 | 副腎石灰化 | 吐気と 嘔吐 | 嘔吐 | 常染色体潜性遺伝 | 急性肝不全 | 悪液質 (カヘキシー) | 成長遅滞 | 成長障害 (成長不全) | 栄養失調 | 発熱 | 肝不全 | 肝腫 | 脂肪便 | 脾腫 | 腹水 | 腹部膨満 | 貧血 | 食道静脈瘤 | 骨髄泡沫細胞" ] }, { "id": "NANDO:1200562", "label_en": "Aicardi syndrome", "label_ja": "アイカルディ症候群", "yomigana": "あいかるでぃしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200562", "notificationNumber": "135", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal retinal pigmentation | Abnormal skin pigmentation | Abnormality of the skin | Anteverted nares | Aplasia/Hypoplasia of the cerebellum | Bifid ribs | Block vertebrae | Butterfly vertebrae | Cataract | Cavum septum pellucidum | Cerebellar vermis hypoplasia | Chiari malformation | Chorioretinal coloboma | Chorioretinal lacunae | Choroid plexus cyst | Cleft palate | Cleft upper lip | Constipation | Dandy-Walker malformation | Delayed CNS myelination | Delayed puberty | Dilated third ventricle | EEG abnormality | Epileptic spasm | Facial asymmetry | Feeding difficulties in infancy | Gastroesophageal reflux | Generalized hypotonia | Gray matter heterotopia | Hemangioma | Hemiplegia/hemiparesis | Hemivertebrae | Hepatoblastoma | Hiatus hernia | Hip dysplasia | Hypertonia | Hypotonia | Infantile spasms | Intestinal polyposis | Lateral ventricle dilatation | Lipoma | Malabsorption | Metastatic angiosarcoma | Microcephaly | Microphthalmia | Missing ribs | Moderate global developmental delay | Moderate intellectual disability | Multiple lipomas | Nystagmus | Optic atrophy | Optic disc coloboma | Pachygyria | Partial agenesis of the corpus callosum | Plagiocephaly | Polymicrogyria | Postnatal growth retardation | Precocious puberty | Profound intellectual disability | Prominence of the premaxilla | Protruding ear | Proximal placement of thumb | Recurrent pneumonia | Retinal detachment | Rib fusion | Scoliosis | Seizure | Severe global developmental delay | Severe intellectual disability | Short philtrum | Skin tags | Small hand | Sparse lateral eyebrow | Spasticity | Spina bifida | Supernumerary ribs | Teratoma | Ventriculomegaly | X-linked dominant inheritance" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | Dandy-Walker 奇形 | X連鎖顕性遺伝 | てんかん性スパスム | 上口唇裂 | 上向きの鼻孔 | 中枢神経髄鞘形成遅延 | 中等度の全般性発達遅滞 | 乳児スパスム | 二分した肋骨 | 二分脊椎 | 便秘 | 側弯 | 側脳室拡大 | 全身性筋緊張低下 | 前上顎突出 | 副肋骨 | 半脊椎 | 反復性肺炎 | 口蓋裂 | 吸収障害 | 塊状椎 | 多小脳回 | 多発性脂肪腫 | 奇形腫 | 小さい手 | 小眼球 | 小脳無形成/低形成 | 小脳虫部低形成 | 小頭 | 思春期早発 | 思春期遅発 | 斜頭 | 片麻痺/片側不全麻痺 | 生後の成長遅滞 | 疎な外側眉毛 | 痙性 | 発作 | 白内障 | 皮膚の異常 | 皮膚肉柱 | 皮膚色素の異常 | 眼振 | 知的障害", "中道動脈瘤 | 知的障害", "最重度 | 知的障害", "重度 | 短い人中 | 第3脳室拡大 | 筋緊張亢進 | 筋緊張低下 | 組織異所発生 | 網膜剥離 | 網膜色素異常 | 耳介聳立 | 肋骨欠損 | 肋骨癒合 | 肝芽腫 | 股関節異形成 | 胃食道逆流 | 脂肪腫 | 脈絡膜叢嚢胞 | 脈絡膜網膜コロボーマ | 脈絡膜網膜裂孔 | 脳回肥厚 | 脳室拡大 | 脳梁の部分的無発生 | 脳波異常 | 腸ポリープ症 | 蝶形脊椎骨 | 血管腫 | 裂孔ヘルニア | 視神経コロボーマ | 視神経萎縮 | 転移性血管肉腫 | 近位母指 | 透明中隔嚢胞 | 重度の全般性発達遅滞 | 顔面非対称 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:2200769", "label_en": "severe viral infection", "label_ja": "重症ウイルス感染症", "yomigana": "じゅうしょうういるすかんせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200769", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200883", "label_en": "Huge arteriovenous malformation with cervicofacial or limb lesion", "label_ja": "巨大動静脈奇形（頚部顔面又は四肢病変）", "yomigana": "きょだいどうじょうみゃくきけい（けいぶがんめんまたはししびょうへん）", "url": "http://nanbyodata.jp/ontology/NANDO_1200883", "notificationNumber": "280", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201161", "label_en": "Glycogen storage disease type IV, fatal neuromuscular form", "label_ja": "致死性神経・筋型糖原病IV型", "yomigana": "ちしせいしんけい・きんがたとうげんびょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201161", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200019", "label_en": "Myelodysplastic syndrome", "label_ja": "骨髄異形成症候群", "yomigana": "こつずいいけいせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200019", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100003", "symptoms_en_list": [ "Myelodysplasia | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "体細胞モザイク | 骨髄異形成" ] }, { "id": "NANDO:2200574", "label_en": "Other lysosomal diseases", "label_ja": "75から101までに掲げるもののほか、ライソゾーム病", "yomigana": "75から101までにかかげるもののほか、らいそぞーむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200574", "notificationNumber": "138", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201322", "label_en": "Neuromyelitis optica", "label_ja": "視神経脊髄炎", "yomigana": "ししんけいせきずいえん", "url": "http://nanbyodata.jp/ontology/NANDO_2201322", "notificationNumber": "62", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100250", "symptoms_en_list": [ "Abnormal brain morphology | CSF pleocytosis | Functional abnormality of the bladder | Myelitis | Nausea | Neuronal loss in central nervous system | Ocular pain | Optic neuritis | Paraplegia | Peripheral demyelination | Recurrent singultus | Respiratory failure | Somatic sensory dysfunction | Visual loss" ], "symptoms_ja_list": [ "不全麻痺 | 中枢神経のニューロン喪失 | 反復性しゃっくり | 吐気 | 呼吸不全 | 感覚障害 | 末梢神経脱髄 | 眼痛 | 脊髄炎 | 脳形態の異常 | 膀胱機能異常 | 視力喪失 | 視神経炎 | 髄液細胞増症" ] }, { "id": "NANDO:2200418", "label_en": "Juvenile dermatomyositis", "label_ja": "若年性皮膚筋炎", "yomigana": "じゃくねんせいひふきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200418", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [ "Abdominal pain | Alopecia | Angina pectoris | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Bundle branch block | Calcinosis | Cardiomyopathy | Constipation | Cough | Cutaneous photosensitivity | Dry skin | Dysarthria | Dysphagia | Dysphonia | Dyspnea | EMG abnormality | Elevated circulating C-reactive protein concentration | Elevated circulating creatine kinase activity | Elevated erythrocyte sedimentation rate | Erythema | Fatigue | Fever | Gastrointestinal hemorrhage | Hoarse voice | Hypotonia | Limitation of joint mobility | Mucosal telangiectasiae | Muscle spasm | Muscle weakness | Myalgia | Myositis | Palpebral edema | Pericarditis | Poikiloderma | Pruritus | Pulmonary fibrosis | Restrictive ventilatory defect | Skin rash | Skin ulcer | Telangiectasia of the skin | Vasculitis | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | 不整脈 | 乾いた皮膚 | 体重喪失 | 便秘 | 呼吸困難 | 嗄声 | 嚥下障害 | 外層 | 多形皮膚萎縮症 (ポイキロデルマ) | 心外膜炎 | 心筋症 | 拘束性肺疾患 | 掻痒 | 構音障害 | 狭心症 | 疲労 | 発熱 | 発音障害 | 皮膚光線過敏症 | 皮膚毛細血管拡張 | 皮膚潰瘍 | 皮膚発疹 | 眼瞼浮腫 | 石灰症 | 禿頭 | 筋けいれん | 筋炎 | 筋痛 | 筋緊張低下 | 筋虚弱 | 筋電図異常 | 粘膜の毛細血管拡張 | 紅斑 | 肺線維症 | 胃腸出血 | 脚ブロック | 腹痛 | 自己免疫 | 血清 creatine phosphokinase上昇 | 血管炎 | 赤沈値上昇 | 関節炎 | 関節痛 | 関節運動制限" ] }, { "id": "NANDO:2100032", "label_en": "Congenital central hypoventilation syndrome", "label_ja": "先天性中枢性低換気症候群", "yomigana": "せんてんせいちゅうすうせいていかんきしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100032", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200165", "label_en": "Adrenoleukodystrophy", "label_ja": "副腎白質ジストロフィー", "yomigana": "ふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200165", "notificationNumber": "20", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal sexual behavior | Abnormality of adrenal physiology | Abnormality of metabolism/homeostasis | Abnormality of vision | Adrenal insufficiency | Aggressive behavior | Alopecia | Aphasia | Attention deficit hyperactivity disorder | Atypical behavior | Blindness | Bowel incontinence | Bulbar palsy | Clumsiness | Cognitive impairment | Dementia | Diplopia | Disinhibition | Elevated circulating long chain fatty acid concentration | Functional motor deficit | Gait disturbance | Headache | Hearing impairment | Hemiparesis | Hyperactivity | Hyperpigmentation of the skin | Hypogonadism | Impaired vibration sensation at ankles | Impotence | Incoordination | Increased circulating ACTH level | Increased intracranial pressure | Intellectual disability | Leg muscle stiffness | Limb ataxia | Loss of speech | Lower limb muscle weakness | Mental deterioration | Neurodegeneration | Neurogenic bladder | Paralysis | Paraparesis | Polyneuropathy | Primary adrenal insufficiency | Progressive | Progressive hearing impairment | Progressive spastic paraparesis | Psychosis | Seizure | Slurred speech | Somatic sensory dysfunction | Spastic paraplegia | Specific learning disability | Truncal ataxia | Urinary bladder sphincter dysfunction | Urinary incontinence | Visual field defect | Visual impairment | Visual loss | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Dementia | X連鎖潜性遺伝 | インポテンス | ポリニューロパチー | 下肢筋硬直 | 下肢筋虚弱 | 不全対麻痺 | 不器用 | 不明瞭言語 | 不適切な性的行動 | 代謝/ホメオスターシスの異常 | 体幹失調 | 副腎不全 | 副腎生理異常 | 協調運動障害 | 原発性副腎不全 | 四肢失調 | 多動 | 大脳白質の異常 | 失語症 | 循環性ACTH 値増加 | 性腺機能低下症 | 感覚障害 | 攻撃的行動 | 機能的筋異常 | 歩行障害 | 注意力欠陥多動性疾患 | 片側不全麻痺 | 特異的学習障害 | 球麻痺 | 痙性対麻痺 | 発作 | 発語喪失 | 皮膚高色素 | 盲 | 知的障害 | 知能悪化 | 神経因性膀胱 | 神経変性 | 禿頭 | 精神病 | 脱抑制 | 膀胱括約筋機能障害 | 行動異常 | 複視 | 視力喪失 | 視力障害 | 視覚の異常 | 視野障害 | 認知障害 | 足の振動覚障害 | 進行性痙性対不全麻痺 | 進行性難聴 | 遺尿 | 遺糞症 | 長鎖脂肪酸上昇 | 難聴 | 頭痛 | 頭蓋内圧の増加 | 麻痺" ] }, { "id": "NANDO:1200981", "label_en": "Failure to thrive and dyslipidemia caused by citrin deficiency", "label_ja": "適応・代償期シトリン欠損症", "yomigana": "てきおう・だいしょうきしとりんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200981", "notificationNumber": "318", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200060", "label_en": "Niemann-Pick disease types A and B/Acid sphingomyelinase deficiency", "label_ja": "ニーマン・ピック病A、B型/酸性スフィンゴミエリナーゼ欠損症", "yomigana": "にーまん・ぴっくびょうえー、びーがた/さんせいすふぃんごみえりなーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200060", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200222", "label_en": "Danon disease", "label_ja": "ダノン病", "yomigana": "だのんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200222", "notificationNumber": "32", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Atrial arrhythmia | Atrioventricular block | Cardiomegaly | Cardiorespiratory arrest | Childhood onset | Cognitive impairment | Congestive heart failure | Dilated cardiomyopathy | Distal muscle weakness | EMG: myopathic abnormalities | Elevated circulating creatine kinase activity | Exercise intolerance | Exercise-induced muscle cramps | Gait disturbance | Generalized amyotrophy | Global developmental delay | Hypertrophic cardiomyopathy | Hypokinesia | Intellectual disability | Juvenile onset | Limb muscle weakness | Lower limb amyotrophy | Muscle flaccidity | Muscle weakness | Myocardial fibrosis | Myocardial necrosis | Pes cavus | Proximal muscle weakness | Second degree atrioventricular block | Severely reduced left ventricular ejection fraction | Syncope | Ventricular tachycardia | Visual impairment | Wolff-Parkinson-White syndrome | X-linked dominant inheritance" ], "symptoms_ja_list": [ "2度房室ブロック | Wolff-Parkinson-White 症候群 | X連鎖顕性遺伝 | うっ血性心不全 | 下肢筋萎縮 | 全般性発達遅滞 | 全身性筋萎縮 | 凹足 | 原発性心房性不整脈 | 四肢筋虚弱 | 失心 | 心室性 頻拍 | 心拡大 | 心筋壊死 | 心筋線維症 | 心肺停止 | 房室ブロック | 拡張型心筋症 | 歩行障害 | 知的障害 | 筋弛緩 | 筋虚弱 | 筋電図: ミオパチー異常 | 肥大型心筋症 | 血清 creatine phosphokinase上昇 | 視力障害 | 認知障害 | 近位筋虚弱 | 運動不耐症 | 運動減少 | 運動誘発性筋けいれん | 遠位筋虚弱 | 駆出分画の重度の減少" ] }, { "id": "NANDO:2200408", "label_en": "obsolete Von Hippel-Lindau disease", "label_ja": "obsolete Von Hippel-Lindau病", "yomigana": "ふぉんひっぺるりんどうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200408", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100131", "label_en": "Liddle syndrome", "label_ja": "リドル症候群", "yomigana": "りどるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100131", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201216", "label_en": "Infantile Krabbe disease", "label_ja": "乳児型クラッベ病", "yomigana": "にゅうじがたくらっべびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201216", "notificationNumber": "114", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal periventricular white matter morphology | Abnormality of visual evoked potentials | Ankle clonus | Axial hypotonia | Blindness | Cachexia | Cherry red spot of the macula | Decorticate rigidity | Decreased nerve conduction velocity | Delayed brainstem auditory evoked response conduction time | Diffuse cerebral atrophy | Elevated brain choline level by MRS | Encephalopathy | Failure to thrive | Feeding difficulties | Functional motor deficit | Gastroesophageal reflux | Generalized myoclonic seizure | Global developmental delay | Hand clenching | Hearing impairment | Hydrocephalus | Hyperesthesia | Hyperreflexia | Hypointensity of cerebral white matter on MRI | Hypopigmented skin patches | Hyporeflexia | Increased CSF protein concentration | Increased intracranial pressure | Irritability | Laryngomalacia | Lower limb spasticity | Mental deterioration | Muscle spasm | Muscle stiffness | Muscle weakness | Myoclonus | Nasogastric tube feeding in infancy | Neck muscle weakness | Opisthotonus | Optic atrophy | Peripheral neuropathy | Photophobia | Poor head control | Progressive neurologic deterioration | Psychomotor deterioration | Recurrent infections | Reduced brain N-acetyl aspartate level by MRS | Respiratory distress | Respiratory failure | Seizure | Sensorimotor neuropathy | Shoulder girdle muscle weakness | Spastic diplegia | Spasticity | Temperature instability | Unexplained fevers | Visual loss | Vomiting | Weight loss" ], "symptoms_ja_list": [ "MRIの大脳白質低輝度 | MRSによる脳 N-acetyl aspartate 値現象 | MRSによる脳コリン値上昇 | びまん性大脳萎縮 | ミオクローヌス | 下肢痙性 | 不明熱 | 乳児期の鼻腔栄養 | 低色素性皮膚斑 | 体幹の筋緊張低下 | 体温不安定 | 体重喪失 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 反射亢進 | 反射低下 | 反復性感染症 | 呼吸不全 | 呼吸窮迫 | 喉頭軟化症 | 嘔吐 | 後弓反張 | 悪液質 (カヘキシー) | 感覚運動ニューロパチー | 成長障害 (成長不全) | 握り手 | 末梢神経ニューロパチー | 機能的筋異常 | 水頭症 | 痙性 | 痙性両麻痺 | 発作 | 盲 | 知能悪化 | 知覚過敏 | 神経活動電位の振幅減少 | 筋けいれん | 筋硬直 | 筋虚弱 | 精神運動発達悪化 | 羞明 | 肩帯筋虚弱 | 胃食道逆流 | 脳室周囲白質の異常 | 脳症 | 被刺激性 | 視力喪失 | 視神経萎縮 | 視覚誘発電位の異常 | 足クローヌス | 進行性神経学的悪化 | 遷延性脳幹聴性誘発反応 | 除皮質性硬直 | 難聴 | 頭蓋内圧の増加 | 頸定不全 | 頸部筋虚弱 | 食餌摂取障害 | 髄液タンパクの増加 | 高度/補酵素活性異常 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:1200419", "label_en": "Non-specific interstitial pneumonia", "label_ja": "非特異的間質性肺炎 ", "yomigana": "ひとくいてきかんしつせいはいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200419", "notificationNumber": "85", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200054", "label_en": "Complex hereditary spastic paraplegia", "label_ja": "痙性対麻痺（複合型）", "yomigana": "けいせいついまひ（ふくごうがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200054", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200760", "label_en": "Zellweger syndrome", "label_ja": "ツェルベーガー症候群", "yomigana": "つぇるべーがーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200760", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal chorioretinal morphology | Abnormal epiphysis morphology | Abnormal pinna morphology | Abnormality of coagulation | Abnormality of the face | Abnormality of the tongue | Arrhythmia | Ataxia | Atypical behavior | Brushfield spots | Cardiomyopathy | Cataract | Clitoral hypertrophy | Cognitive impairment | Constriction of peripheral visual field | Corneal opacity | Cryptorchidism | Death in infancy | Depressed nasal bridge | Diminished deep tendon reflex | EEG abnormality | Elevated circulating phytanic acid concentration | Epicanthus | Epiphyseal stippling | Facial palsy | Failure to thrive | Feeding difficulties in infancy | Flat face | Flat occiput | Glaucoma | Global developmental delay | Hearing impairment | Hepatic failure | Hepatomegaly | High forehead | High palate | Hydronephrosis | Hypospadias | Hypotonia | Ichthyosis | Jaundice | Macrocephaly | Malabsorption | Microcephaly | Micrognathia | Multicystic kidney dysplasia | Nyctalopia | Nystagmus | Optic atrophy | Polymicrogyria | Posterior embryotoxon | Premature birth | Primary adrenal insufficiency | Profound global developmental delay | Progressive muscle weakness | Pyloric stenosis | Respiratory insufficiency | Rod-cone dystrophy | Seizure | Sensorineural hearing impairment | Severe muscular hypotonia | Short stature | Skeletal dysplasia | Spasticity | Thickened nuchal skin fold | Underdeveloped supraorbital ridges | Upslanted palpebral fissure | Ventricular septal defect | Very long chain fatty acid accumulation | Visual impairment | Wide anterior fontanel | Wide nasal bridge" ], "symptoms_ja_list": [ "Brushfield 斑 | フィタン酸値上昇 | 不整脈 | 低身長 | 停留精巣 | 全般性発達遅滞 | 内眼角贅皮 | 凝固の異常 | 分厚い後部皮膚ヒダ | 原発性副腎不全 | 吸収障害 | 呼吸不全 | 多嚢胞腎異形成 | 多小脳回 | 夜盲症 | 大頭 | 小頭 | 小顎 | 尿道下裂 | 幅広い大泉門 | 幅広い鼻梁 | 平坦な後頭 | 平坦な顔 | 幽門狭窄 | 後部胎生環 | 心室中隔欠損 | 心筋症 | 感音難聴 | 成長障害 (成長不全) | 早産 | 最重度の全般性発達遅滞 | 極長鎖脂肪酸蓄積 | 水腎症 | 痙性 | 発作 | 白内障 | 眼振 | 眼瞼裂斜上 | 眼窩上縁未発達 | 筋緊張低下 | 緑内障 | 耳介の異常 | 肝不全 | 肝腫 | 脈絡膜網膜異常 | 脳波異常 | 腱反射減少 | 舌の異常 | 色素性網膜炎 | 落ちくぼんだ鼻梁 | 行動異常 | 視力障害 | 視神経萎縮 | 視野狭窄 | 角膜混濁 | 認知障害 | 進行性筋虚弱 | 運動失調 | 重度筋緊張低下 | 陰核肥大 | 難聴 | 顔の異常 | 顔面麻痺 | 食餌摂取障害 in infancy | 骨格異形成 | 骨端の異常 | 骨端点状石灰化 | 高い額 | 高口蓋 | 魚鱗癬 | 黄疸" ] }, { "id": "NANDO:2200605", "label_en": "HDL deficiency", "label_ja": "高比重リポタンパク欠乏症", "yomigana": "こうひじゅうりぽたんぱくけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200605", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100171", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200450", "label_en": "Deficiency of the enzyme ADA2", "label_ja": "DADA2", "yomigana": "でぃーえーでぃーえー2", "url": "http://nanbyodata.jp/ontology/NANDO_2200450", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abdominal pain | Agitation | Anemia | Aphasia | Arthralgia | Arthritis | Ataxia | Autosomal recessive inheritance | Bone marrow hypocellularity | Childhood onset | Cutis marmorata | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total lymphocyte count | Dilated cardiomyopathy | Eczematoid dermatitis | Elevated circulating C-reactive protein concentration | Elevated circulating hepatic transaminase concentration | Elevated erythrocyte sedimentation rate | Erythema nodosum | Esophageal varix | Feeding difficulties | Fever | Hashimoto thyroiditis | Headache | Hemiplegia | Hepatomegaly | Hepatosplenomegaly | Hypertension | Immunodeficiency | Increased total leukocyte count | Infantile onset | Juvenile onset | Lymphadenopathy | Lymphoproliferative disorder | Myalgia | Neonatal onset | Ophthalmoplegia | Optic atrophy | Oral ulcer | Pancytopenia | Panniculitis | Peripheral neuropathy | Portal hypertension | Purpura | Recurrent fever | Recurrent infections | Recurrent otitis media | Recurrent sinusitis | Skin rash | Skin ulcer | Splenomegaly | Stroke | Thrombocytosis | Type I diabetes mellitus | Vasculitis" ], "symptoms_ja_list": [ "CRP 上昇 | I 型糖尿病 | リンパ増殖性疾患 | リンパ球減少症 | リンパ節腫大 | 不穏 | 低ガンマグロブリン血症 | 免疫不全 | 卒中 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性感染症 | 口腔潰瘍 | 大理石皮膚 | 失語症 | 常染色体潜性遺伝 | 拡張型心筋症 | 末梢神経ニューロパチー | 橋本甲状腺炎 | 汎血球減少症 | 湿疹 | 片麻痺 | 発熱 | 発熱エピソード | 白血球増多症 | 白血球減少症 | 皮膚潰瘍 | 皮膚発疹 | 眼筋麻痺 | 筋痛 | 紫斑 | 結節性紅斑 | 肝トランスアミナーゼ上昇 | 肝脾腫 | 肝腫 | 脂肪織炎 | 脾腫 | 腹痛 | 血小板増多症 | 血管炎 | 視神経萎縮 | 貧血 | 赤沈値上昇 | 運動失調 | 門脈圧亢進 | 関節炎 | 関節痛 | 頭痛 | 食道静脈瘤 | 食餌摂取障害 | 骨髄細胞数増多 | 高血圧" ] }, { "id": "NANDO:2200178", "label_en": "Obstructive uropathy", "label_ja": "閉塞性尿路疾患", "yomigana": "へいそくせいにょうろしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200178", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100025", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201033", "label_en": "Lymphangiomatosis", "label_ja": "リンパ管腫症", "yomigana": "りんぱかんしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201033", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200283", "label_en": "Relapsing polychondritis", "label_ja": "再発性多発軟骨炎", "yomigana": "さいはつせいたはつなんこつえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200283", "notificationNumber": "55", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal endocardium morphology | Abnormal pattern of respiration | Alopecia | Anteriorly placed anus | Antinuclear antibody positivity | Arthralgia | Arthritis | Ataxia | Atelectasis | Biparietal narrowing | Cataract | Chondritis | Chondritis of pinna | Conjunctivitis | Cough | Cranial nerve paralysis | Dyspnea | Episcleritis | Erythema | Gangrene | Glomerulopathy | Hematuria | Hepatitis | Hoarse voice | Inflammatory abnormality of the eye | Keratitis | Large vessel vasculitis | Laryngomalacia | Limitation of joint mobility | Loss of voice | Macule | Myocarditis | Nausea and vomiting | Pericarditis | Proptosis | Proteinuria | Purpura | Recurrent aphthous stomatitis | Renal insufficiency | Rheumatoid factor positive | Scleritis | Sensorineural hearing impairment | Thrombophlebitis | Tinnitus | Tracheobronchomalacia | Uveitis | Vascular dilatation | Venous thrombosis | Vertigo" ], "symptoms_ja_list": [ "ブドウ膜炎 | リウマチ因子陽性 | 上強膜炎 | 両頭頂径狭小 | 前方位肛門 | 動脈瘤 | 反復性アフタ性口内炎 | 吐気と 嘔吐 | 呼吸パターンの異常 | 呼吸困難 | 喉頭軟化症 | 嗄声 | 壊疽 | 声喪失 | 外層 | 大動脈弁の異常 | 大血管血管炎 | 心内膜の異常 | 心外膜炎 | 心筋炎 | 感音難聴 | 抗核抗体陽性 | 斑 | 気管気管支軟化症 | 無気肺 | 白内障 | 眩暈 | 眼の炎症性異常 | 眼球突出 | 禿頭 | 糸球体症 | 紅斑 | 紫斑 | 結膜炎 | 耳介軟骨炎 | 耳鳴 | 肝炎 | 胸膜炎 | 脳神経麻痺 | 腎不全 | 蛋白尿 | 血尿 | 血栓性静脈炎 | 角膜炎 | 軟骨炎 | 運動失調 | 関節炎 | 関節痛 | 関節運動制限 | 静脈血栓症" ] }, { "id": "NANDO:2200898", "label_en": "Aicardi-Goutieres syndrome 6", "label_ja": "ADAR1欠損症", "yomigana": "えーでぃーえーあーる1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200898", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100244", "symptoms_en_list": [ "Autosomal recessive inheritance | CSF pleocytosis | Cerebral calcification | Chilblains | Childhood onset | Developmental regression | Dystonia | Feeding difficulties | Hemolytic anemia | Hepatomegaly | Increased CSF interferon alpha | Infantile onset | Intrauterine growth retardation | Irritability | Leukodystrophy | Loss of ambulation | Loss of speech | Microcephaly | Neonatal onset | Nystagmus | Rigidity | Severe global developmental delay | Splenomegaly | Thrombocytopenia | Tremor" ], "symptoms_ja_list": [ "ジストニア | ロイコジストロフィー | 凍瘡病変 | 大脳石灰化 | 子宮内成長遅滞 | 小頭 | 常染色体潜性遺伝 | 振戦 | 溶血性貧血 | 発語喪失 | 発達退行 | 眼振 | 硬直 | 肝腫 | 脾腫 | 血小板減少 | 被刺激性 | 進行性歩行不安定 | 重度の全般性発達遅滞 | 食餌摂取障害 | 髄液インターフェロンα増加 | 髄液細胞増症" ] }, { "id": "NANDO:1200027", "label_en": "Neuromyelitis optica spectrum disorders", "label_ja": "視神経脊髄炎", "yomigana": "ししんけいせきずいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200027", "notificationNumber": "13", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal brain morphology | CSF pleocytosis | Functional abnormality of the bladder | Myelitis | Nausea | Neuronal loss in central nervous system | Ocular pain | Optic neuritis | Paraplegia | Peripheral demyelination | Recurrent singultus | Respiratory failure | Somatic sensory dysfunction | Visual loss" ], "symptoms_ja_list": [ "不全麻痺 | 中枢神経のニューロン喪失 | 反復性しゃっくり | 吐気 | 呼吸不全 | 感覚障害 | 末梢神経脱髄 | 眼痛 | 脊髄炎 | 脳形態の異常 | 膀胱機能異常 | 視力喪失 | 視神経炎 | 髄液細胞増症" ] }, { "id": "NANDO:2100152", "label_en": "Collagen disease", "label_ja": "膠原病疾患", "yomigana": "こうげんびょうしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100152", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100151", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201485", "label_en": "Nodular lymphocyte predominance Hodgkin lymphoma", "label_ja": "結節性リンパ球優位型ホジキンリンパ腫", "yomigana": "けっそくせいりんぱきゅうゆういがたほじきんりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2201485", "notificationNumber": "89", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200934", "label_en": "Caroli disease", "label_ja": "先天性多発肝内胆管拡張症", "yomigana": "せんてんせいたはつかんないたんかんかくちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200934", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [ "Abdominal pain | Abnormal bleeding | Abnormal ductus choledochus morphology | Abnormal intrahepatic bile duct morphology | Abnormality of the kidney | Anorexia | Ascites | Biliary cirrhosis | Cholelithiasis | Cholestasis | Cirrhosis | Congenital hepatic fibrosis | Conjugated hyperbilirubinemia | Decreased total leukocyte count | Elevated circulating alkaline phosphatase concentration | Elevated circulating hepatic transaminase concentration | Elevated erythrocyte sedimentation rate | Esophageal varix | Fever | Hematemesis | Hepatic failure | Hepatic fibrosis | Hepatomegaly | Hyperbilirubinemia | Hypersplenism | Increased total leukocyte count | Intrahepatic cholestasis | Jaundice | Liver abscess | Melena | Nausea | Pancreatitis | Periportal fibrosis | Polycystic kidney dysplasia | Portal hypertension | Pruritus | Sepsis | Splenomegaly | Thrombocytopenia | Vomiting | Weight loss" ], "symptoms_ja_list": [ "アルカリホスファターゼ上昇 | 下血 | 体重喪失 | 先天性肝線維症 | 吐気 | 吐血 | 嘔吐 | 多嚢胞性腎異形成 | 抱合型高ビリルビン血症 | 掻痒 | 敗血症 | 異常な出血 | 発熱 | 白血球増多症 | 白血球減少症 | 総胆管の異常 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝内胆汁うっ滞 | 肝内胆管の異常 | 肝硬変 | 肝線維症 | 肝腫 | 肝膿瘍 | 胆汁うっ滞 | 胆汁性肝硬変 | 胆石症 | 脾機能亢進 | 脾腫 | 腎異常 | 腹水 | 腹痛 | 膵炎 | 血小板減少 | 赤沈値上昇 | 門脈周囲線維症 | 門脈圧亢進 | 食思不振 | 食道静脈瘤 | 高ビリルビン血症 | 黄疸" ] }, { "id": "NANDO:2200550", "label_en": "Mucopolysaccharidosis type IV", "label_ja": "ムコ多糖症IV型", "yomigana": "むこたとうしょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200550", "notificationNumber": "132", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal dental enamel morphology | Abnormal epiphysis morphology | Abnormal heart valve morphology | Abnormal metaphysis morphology | Abnormal rib morphology | Abnormality of the dentition | Anteverted nares | Bowing of the long bones | Carious teeth | Coarse facial features | Cognitive impairment | Corneal opacity | Coxa valga | Delayed skeletal maturation | Gait disturbance | Genu valgum | Grayish enamel | Hearing impairment | Hernia | Hyperlordosis | Joint dislocation | Joint hypermobility | Kyphosis | Macrocephaly | Mucopolysacchariduria | Pectus carinatum | Platyspondyly | Reduced bone mineral density | Scoliosis | Short neck | Short stature | Short thorax | Spinal canal stenosis | Wide mouth" ], "symptoms_ja_list": [ "はと胸 | ヘルニア | ムコ多糖症 | 上向きの鼻孔 | 低身長 | 側弯 | 前弯 | 外反股 | 外反膝 | 大頭 | 幅広い口 | 後弯 | 心弁の異常 | 扁平脊椎 | 歩行障害 | 歯の異常 | 歯エナメル質異常 | 灰色のエナメル質 | 短い胸郭 | 短い頸部 | 粗な顔貌 | 肋骨の異常 | 脊椎管狭窄 | 角膜混濁 | 認知障害 | 長管骨湾曲 | 関節脱臼 | 関節過動 | 難聴 | 骨ミネラル濃度減少 | 骨幹端の異常 | 骨格骨化遅延 | 骨端の異常 | 齲歯" ] }, { "id": "NANDO:2201182", "label_en": "Mucopolysaccharidosis type VI, severe form", "label_ja": "重症型ムコ多糖症VI型", "yomigana": "じゅうしょうがたむこたとうしょう6がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201182", "notificationNumber": "133", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200189", "label_en": "Familial Creutzfeldt-Jakob disease", "label_ja": "家族性クロイツフェルト・ヤコブ病", "yomigana": "かぞくせいくろいつふぇると・やこぶびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200189", "notificationNumber": "23", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal cerebellum morphology | Abnormal pupillary function | Abnormal pyramidal sign | Abnormality of vision | Akinetic mutism | Amyloidosis of peripheral nerves | Anxiety | Apathy | Aphasia | Astrocytosis | Autosomal dominant inheritance | Babinski sign | Bradykinesia | Central nervous system degeneration | Chorea | Clumsiness | Confusion | Delusion | Dementia | Depression | Diffuse spongiform leukoencephalopathy | EEG with persistent abnormal rhythmic activity | Emotional lability | Excessive daytime somnolence | Extrapyramidal muscular rigidity | Focal T2 hyperintense basal ganglia lesion | Gait ataxia | Global brain atrophy | Hallucinations | Hemiparesis | Increased CSF protein concentration | Insomnia | Irritability | Loss of facial expression | Memory impairment | Middle age onset | Muscle weakness | Myoclonus | Neuronal loss in central nervous system | Nystagmus | Personality changes | Progressive cerebellar ataxia | Progressive extrapyramidal muscular rigidity | Progressive forgetfulness | Rapidly progressive | Seizure | Senile plaques | Short attention span | Slurred speech | Spastic dysarthria | Spastic hemiparesis | Stroke-like episode | Supranuclear gaze palsy | Tremor | Trigeminal neuralgia | Vestibular nystagmus | Visual impairment" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | うつ | びまん性海綿状白質脳症 | ミオクローヌス | 三叉神経痛 | 不器用 | 不安 | 不明瞭言語 | 不眠 | 中枢神経のニューロン喪失 | 中枢神経変性 | 全般性脳萎縮 | 前庭性眼振 | 卒中様エピソード | 嗜眠 | 失語症 | 妄想 | 小脳の異常 | 巣状 T2 高輝度基底核病変 | 常染色体顕性遺伝 | 幻覚 | 性格変化 | 情動不安定 | 持続性異常な律動活動を伴う脳波 | 振戦 | 星状細胞増加; | 末梢神経アミロイドーシス | 核上性注視麻痺 | 歩行失調 | 無動性無言症 | 無関心", "感情鈍磨 | 片側不全麻痺 | 異常な自律神経生理 | 痙性構音障害 | 痙性片麻痺 | 発作 | 眼振 | 瞳孔機能の異常 | 短い注意期間 | 筋虚弱 | 老人斑 | 舞踏病 | 被刺激性 | 視力障害 | 視覚の異常 | 記憶障害 | 進行性健忘 | 進行性小脳失調 | 進行性錐体外路筋硬直 | 運動緩徐 | 錐体外路筋硬直 | 錐体路運動機能の異常 | 錯乱 | 顔面表情喪失 | 髄液タンパクの増加" ] }, { "id": "NANDO:1200858", "label_en": "Lipodystrophy", "label_ja": "脂肪萎縮症", "yomigana": "しぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200858", "notificationNumber": "265", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200274", "label_en": "Left ventricular-right atrial communication", "label_ja": "左室右房交通症", "yomigana": "さしつうぼうこうつうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200274", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100090", "symptoms_en_list": [ "Ankle swelling | Bacterial endocarditis | Chest pain | Congestive heart failure | Constrictive pericarditis | Dyspnea | Elevated right atrial pressure | Fatigue | Fever | Left-to-right shunt | Muscle weakness | Palpitations | Pedal edema | Perimembranous ventricular septal defect | Peripheral edema | Pulmonary arterial hypertension | Pulmonic stenosis | Right ventricular failure | Right ventricular hypertrophy | Tricuspid regurgitation | Vascular dilatation | Ventricular septal defect" ], "symptoms_ja_list": [ "うっ血性心不全 | 三尖弁逆流 | 共通 | 動悸 | 動脈瘤 | 収縮性心外膜炎 | 右室不全 | 右室肥大 | 右房圧上昇 | 呼吸困難 | 左-右シャントunt | 心室中隔欠損 | 末梢性浮腫 | 浮腫 (下肢) | 疲労 | 発熱 | 筋虚弱 | 細菌性心内膜炎 | 肺動脈狭窄 | 肺高血圧 | 膜様部周囲心室中隔欠損 | 足関節腫大" ] }, { "id": "NANDO:1201001", "label_en": "Aniridia", "label_ja": "無虹彩症", "yomigana": "むこうさいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201001", "notificationNumber": "329", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200388", "label_en": "Mixed gonadal dysgenesis", "label_ja": "混合性性腺異形成症", "yomigana": "こんごうせいせいせんいけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200388", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100140", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal internal genitalia | Abnormal scrotum morphology | Abnormality of the kidney | Ambiguous genitalia | Ambiguous genitalia", "female | Ambiguous genitalia", "male | Autistic behavior | Azoospermia | Bicuspid aortic valve | Bifid scrotum | Bilateral cryptorchidism | Chordee | Coarctation of aorta | Cryptorchidism | Cubitus valgus | Delayed puberty | Delayed skeletal maturation | Developmental glaucoma | Dyscalculia | Epicanthus | Epispadias | Gonadoblastoma | Gynecomastia | Hallux valgus | Hearing impairment | High palate | Horseshoe kidney | Hypospadias | Hypothyroidism | Increased circulating gonadotropin level | Low posterior hairline | Male infertility | Micrognathia | Micropenis | Mild intellectual disability | Muscle hypertrophy of the lower extremities | Nail dysplasia | Nystagmus | Obesity | Ovarian serous cystadenoma | Ovotestis | Pectus excavatum | Penoscrotal hypospadias | Posteriorly rotated ears | Prolonged QT interval | Recurrent otitis media | Scoliosis | Short 4th metacarpal | Short metatarsal | Short stature | Streak ovary | Tachycardia | Unilateral cryptorchidism | Urogenital sinus anomaly | Visual impairment | Webbed neck | Wide intermamillary distance" ], "symptoms_ja_list": [ "ゴナドトロピン過剰症 | 下肢筋肥大 | 両側性停留精巣 | 二分陰嚢 | 二弁性大動脈弁 | 低身長 | 停留精巣 | 側弯 | 先天性緑内障 | 内性器異常 | 内眼角贅皮 | 卵巣漿液性嚢胞腺腫 | 卵精巣 | 反復性中耳炎 | 外反母趾 | 外反肘 | 大動脈縮窄 | 女性型乳房 | 小陰茎 | 小顎 | 尿道上裂 | 尿道下裂 | 尿道索 | 幅広い乳頭間距離 | 後部毛髪線低位 | 循環器系の形態異常 | 思春期遅発 | 性別不明の外性器 | 性別不明の外性器", "女性 | 性別不明の外性器", "男性 | 性腺芽細胞腫 | 泌尿生殖洞奇形 | 漏斗胸 | 無精子症 | 爪異形成 | 片側性停留精巣 | 甲状腺機能低下症 | 男性不妊 | 眼振 | 知的障害", "軽度 | 短い中足骨 | 短い第4中手骨 | 索状卵巣 | 翼状頚 | 耳介後方回転 | 肥満 | 腎異常 | 自閉性行動 | 視力障害 | 計算障害 | 遷延性 QT 間隔 | 陰嚢異常 | 陰茎陰嚢尿道下裂 | 難聴 | 頻拍 | 馬蹄腎 | 骨格骨化遅延 | 高口蓋" ] }, { "id": "NANDO:1200879", "label_en": "obsolete Lymphangiomatosis", "label_ja": "obsolete リンパ管腫症", "yomigana": "obsolete りんぱかんしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200879", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201153", "label_en": "Kufor-Rakeb syndrome", "label_ja": "Kufor-Rakeb症候群", "yomigana": "くふぉー・らけぶしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201153", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal finger morphology | Abnormal foot morphology | Abnormal pyramidal sign | Abnormality of mental function | Aggressive behavior | Akinesia | Anarthria | Anosmia | Apathy | Ataxia | Autosomal recessive inheritance | Babinski sign | Blepharospasm | Bowel incontinence | Bradykinesia | Brisk reflexes | Cerebral cortical atrophy | Confusion | Dementia | Distal sensory impairment | Dysarthria | Dyskinesia | Dysphagia | Dystonia | Eyelid apraxia | Fatigue | Fever | Gait disturbance | Generalized muscle weakness | Hallucinations | Hyperactive patellar reflex | Hyperreflexia | Hypertonia | Hypokinesia | Hypomimic face | Hyposmia | Juvenile onset | Leg muscle stiffness | Lethargy | Lower limb hyperreflexia | Mask-like facies | Mental deterioration | Mild intellectual disability | Myoclonus | Nystagmus | Oculogyric crisis | Paraparesis | Parkinsonism | Parkinsonism with favorable response to dopaminergic medication | Postural instability | Psychotic episodes | Rapidly progressive | Rigidity | Seizure | Short attention span | Slow saccadic eye movements | Spastic paraplegia | Spasticity | Supranuclear gaze palsy | Tongue muscle weakness | Torticollis | Tremor | Upper limb hyperreflexia | Upper motor neuron dysfunction | Urinary incontinence | Vertical supranuclear gaze palsy | Visual hallucination | Young adult onset" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | ジスキネジア | ジストニア | ドパミン製剤によく反応するパーキンソン症候群 | パーキンソン症候群 | ミオクローヌス | 上肢反射亢進 | 下肢反射亢進 | 下肢筋硬直 | 不全対麻痺 | 仮面様顔貌 | 仮面顔 | 全身性筋虚弱 | 反射亢進 | 反射活発 | 嗅覚減退 | 嚥下障害 | 垂直性核上性注視麻痺 | 大脳皮質萎縮 | 姿勢不安定 | 常染色体潜性遺伝 | 幻覚 | 指の異常 | 振戦 | 攻撃的行動 | 斜頚 | 核上性注視麻痺 | 構語障害 | 構音障害 | 歩行障害 | 注視クリーゼ | 無動症 | 無嗅覚 | 無気力 | 無関心", "感情鈍磨 | 疲労 | 痙性 | 痙性対麻痺 | 発作 | 発熱 | 皮質脊髄路機能障害 | 眼振 | 眼瞼スパスム | 眼瞼失行 | 知的障害", "軽度 | 知能悪化 | 短い注意期間 | 硬直 | 筋緊張亢進 | 精神病エピソード | 緩徐なサッカード性眼球運動 | 膝蓋腱反射亢進 | 舌運動障害 | 視覚的幻覚 | 足の異常 | 運動失調 | 運動減少 | 運動緩徐 | 遠位感覚障害 | 遺尿 | 遺糞症 | 錐体路運動機能の異常 | 錯乱 | 高次精神機能の異常" ] }, { "id": "NANDO:2100248", "label_en": "Autoimmune encephalitis", "label_ja": "自己免疫介在性脳炎・脳症", "yomigana": "じこめんえきかいざいせいのうえん・のうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100248", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200754", "label_en": "Idiopathic central hypoventilation syndrome", "label_ja": "特発性中枢性低換気症候群", "yomigana": "とくはつせいちゅうすうせいていかんきしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200754", "notificationNumber": "230", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200796", "label_en": "Methylmalonic acidemia cblB type", "label_ja": "コバラミン代謝異常 cblB", "yomigana": "こばらみんたいしゃいじょう しーびーえるびー", "url": "http://nanbyodata.jp/ontology/NANDO_1200796", "notificationNumber": "246", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Anemia | Autosomal recessive inheritance | Childhood onset | Coma | Decreased circulating adenosylcobalamin concentration | Decreased methylmalonyl-CoA mutase activity | Decreased total neutrophil count | Dehydration | Delayed gross motor development | Dilated cardiomyopathy | Failure to thrive | Feeding difficulties in infancy | Global developmental delay | Hepatomegaly | Hyperammonemia | Hyperglycinemia | Hypoglycemia | Hypotonia | Infantile onset | Ketonuria | Ketosis | Lethargy | Metabolic acidosis | Methylmalonic acidemia | Methylmalonic aciduria | Neonatal onset | Pancytopenia | Respiratory distress | Thrombocytopenia | Vomiting" ], "symptoms_ja_list": [ "methylmalonyl-CoA mutase 活性の減少 | アデノシルコバラミンの減少 | ケトン尿 | ケトン症 | メチルマロン酸尿 | メチルマロン酸血症 | 代謝性アシドーシス | 低血糖 | 全般性発達遅滞 | 呼吸窮迫 | 嘔吐 | 好中球減少症 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 拡張型心筋症 | 昏睡 | 汎血球減少症 | 無気力 | 筋緊張低下 | 粗大運動発達遅延 | 肝腫 | 脱水 | 血小板減少 | 貧血 | 食餌摂取障害 in infancy | 高アンモニア血症 | 高グリシン血症" ] }, { "id": "NANDO:2100247", "label_en": "Acute encephalopathy with biphasic seizures and late reduced diffusion", "label_ja": "痙攣重積型急性脳症", "yomigana": "けいれんじゅうせきがたきゅうせいのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100247", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200998", "label_en": "CHILD syndrome", "label_ja": "CHILD症候群", "yomigana": "ちゃいるどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200998", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "2-5 finger cutaneous syndactyly | 4-5 toe syndactyly | Abnormal cardiac septum morphology | Abnormal heart morphology | Abnormal periungual morphology | Absent middle phalanx of 2nd finger | Absent middle phalanx of 3rd finger | Absent toe | Adrenal hypoplasia | Alopecia | Amelia | Aplasia of the distal phalanx of the 2nd finger | Aplasia of the distal phalanx of the 3rd finger | Aplasia/Hypoplasia involving the central nervous system | Cleft upper lip | Congenital hip dislocation | Congenital ichthyosiform erythroderma | Congenital onset | Congenital onychodystrophy | Depressed nasal bridge | Elevated 8(9)-cholestenol | Elevated 8-dehydrocholesterol | Epidermal nevus | Epiphyseal stippling | Erythema | Finger syndactyly | Flexion contracture | Foam cells | Hearing impairment | Hydronephrosis | Hyperkeratosis | Hypoplastic pelvis | Hypoplastic scapulae | Micrognathia | Mild intellectual disability | Mild intrauterine growth retardation | Morphological central nervous system abnormality | Multiple joint contractures | Nevus | Oligodactyly | Parakeratosis | Polydactyly | Pulmonary hypoplasia | Renal agenesis | Scarring alopecia of scalp | Scoliosis | Short clavicles | Short metacarpal | Short ribs | Short stature | Single transverse palmar crease | Single ventricle | Small nail | Stillbirth | Syndactyly | Thyroid hypoplasia | Umbilical hernia | Unilateral renal agenesis | Vertebral hypoplasia | X-linked dominant inheritance" ], "symptoms_ja_list": [ "8(9)-cholestenol 上昇 | 8-dehydrocholesterol 上昇 | X連鎖顕性遺伝 | 上口唇裂 | 不全角化症 | 中枢神経の形態異常 | 中枢神経を含む無形成/低形成 | 乏指趾症 | 低身長 | 側弯 | 先天性爪ジストロフィー | 先天性股関節脱臼 | 先天性魚鱗癬型紅皮症 | 副腎低形成 | 単心室 | 合指症 | 合指趾症 | 多指趾症 | 多発性関節拘縮 | 小さい爪 | 小顎 | 屈曲拘縮 | 心中隔 | 心形態の異常 | 手掌横線 | 指欠損 | 母斑 | 水腎症 | 泡沫細胞 | 無肢症 | 爪周囲の異常 | 片側性腎無発生 | 甲状腺低形成 | 知的障害", "軽度 | 短い中手骨 | 短い肋骨 | 短い鎖骨 | 禿頭 | 第2-第5皮膚性合指症 | 第2指中節骨欠損 | 第2指末節骨無形成 | 第3指中節骨欠損 | 第3指末節骨無形成 | 第4-5 合趾症 | 紅斑 | 肩甲骨低形成 | 肺低形成 | 脊椎低形成 | 腎無発生 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 表皮母斑 | 軽度の子宮内成長遅滞 | 過角化症 | 難聴 | 頭皮の瘢痕性禿頭 | 骨盤低形成 | 骨端点状石灰化" ] }, { "id": "NANDO:2200524", "label_en": "Diseases due to mitochondrial DNA mutation", "label_ja": "ミトコンドリアDNA突然変異", "yomigana": "みとこんどりあでぃーえぬえーとつぜんへんい", "url": "http://nanbyodata.jp/ontology/NANDO_2200524", "notificationNumber": "92", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201128", "label_en": "Hereditary fibrinogen Aα-chain amyloidosis", "label_ja": "遺伝性フィブリノーゲンアミロイドーシス", "yomigana": "いでんせいふぃぶりのーげんあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201128", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201143", "label_en": "Presymptomatic medium-chain acyl-CoA dehydrogenase deficiency", "label_ja": "発症前型中鎖アシルCoA脱水素酵素欠損症", "yomigana": "はっしょうまえがたちゅうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201143", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201452", "label_en": "Romano Ward syndrome", "label_ja": "Romano-Ward症候群", "yomigana": "ろまのわーどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201452", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100053", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201524", "label_en": "Xia-Gibbs syndrome", "label_ja": "シア・ギブス症候群", "yomigana": "しあ・ぎぶすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201524", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal brain morphology | Abnormal corpus callosum morphology | Abnormal curvature of the vertebral column | Abnormal facial shape | Abnormality of the cochlear nerve | Abnormality of the head | Abnormality of the vertebral column | Absent speech | Agenesis of corpus callosum | Aggressive behavior | Almond-shaped palpebral fissure | Amblyopia | Ankle clonus | Anteverted nares | Anxiety | Aplasia cutis congenita | Arachnoid cyst | Astigmatism | Ataxia | Atrial septal defect | Autism | Autistic behavior | Autosomal dominant inheritance | Babinski sign | Bicoronal synostosis | Bilateral tonic-clonic seizure | Bilateral tonic-clonic seizure with focal onset | Brachycephaly | Brachydactyly | Bradykinesia | Broad forehead | Broad nasal tip | Broad philtrum | Broad-based gait | Bruxism | Cerebral atrophy | Cerebral hypomyelination | Cerebral palsy | Cerebral visual impairment | Childhood onset | Chronic otitis media | Cleft palate | Clinodactyly of the 5th finger | Coarse facial features | Congenital hip dislocation | Congenital onset | Constipation | Coronal craniosynostosis | Craniosynostosis | Cryptorchidism | Cupped ear | Decreased activity of mitochondrial complex IV | Deeply set eye | Delayed CNS myelination | Delayed myelination | Delayed speech and language development | Depressed nasal bridge | Developmental regression | Dolichocephaly | Downslanted palpebral fissures | Dysphagia | EEG abnormality | Enlarged cisterna magna | Epicanthus | Esotropia | Everted lower lip vermilion | Exotropia | Expressive language delay | Extra-axial cerebrospinal fluid accumulation | Failure to thrive | Feeding difficulties | Focal emotional seizure with laughing | Focal-onset seizure | Frontal bossing | Frontal cortical atrophy | Gait ataxia | Gait disturbance | Global developmental delay | Hearing impairment | Hepatomegaly | High forehead | High palate | Horizontal eyebrow | Hyperactivity | Hypermetropia | Hypertelorism | Hypertonia | Hypoplasia of the brainstem | Hypoplasia of the corpus callosum | Hypotonia | Hypoxemia | Impaired mastication | Impulsivity | Infantile onset | Inguinal hernia | Intellectual disability | Intrauterine growth retardation | Joint hypermobility | Lambdoidal craniosynostosis | Laryngomalacia | Long palpebral fissure | Long philtrum | Low hanging columella | Low-set ears | Lumbar hyperlordosis | Macrocephaly | Macular dystrophy | Microcephaly | Micrognathia | Micropenis | Microtia | Mild intellectual disability | Mitral regurgitation | Moderate intellectual disability | Motor delay | Myoclonus | Narrow forehead | Narrow mouth | Narrow nail | Neonatal onset | Neonatal respiratory distress | Nystagmus | Obstructive sleep apnea | Omphalocele | Overfolded helix | Pectus excavatum | Periventricular leukomalacia | Pes cavus | Pes planus | Plagiocephaly | Poor head control | Poor speech | Positional foot deformity | Progressive muscle weakness | Prominent fingertip pads | Proptosis | Protruding ear | Ptosis | Recurrent patellar dislocation | Relative macrocephaly | Respiratory failure requiring assisted ventilation | Retrocerebellar cyst | Sagittal craniosynostosis | Scoliosis | Seizure | Self-injurious behavior | Severe intellectual disability | Shield chest | Short chin | Short columella | Short foot | Short neck | Short philtrum | Short stature | Simplified gyral pattern | Single transverse palmar crease | Sleep apnea | Sleep disturbance | Small earlobe | Small hand | Smooth philtrum | Soft skin | Spastic tetraparesis | Spinal muscular atrophy | Strabismus | Subependymal cysts | Synophrys | Talipes equinovarus | Tapered finger | Temporal cortical atrophy | Tented upper lip vermilion | Thin upper lip vermilion | Tracheomalacia | Trismus | Underdeveloped nasal alae | Upbeat nystagmus | Uplifted earlobe | Upper airway obstruction | Upslanted palpebral fissure | Ventricular septal defect | Ventriculomegaly | Wide intermamillary distance | Wide mouth | Wide nasal bridge | Widely spaced teeth" ], "symptoms_ja_list": [ "Babinski サイン | くも膜嚢胞 | アーモンド型眼瞼裂 | コップ状耳 | テント状上口唇唇紅部 | ミオクローヌス | ミトコンドリア複合体 IV の活性減少 | 上向きの鼻孔 | 上方眼振 | 上気道閉塞 | 上衣下嚢胞 | 下口唇唇紅部外反 | 不安 | 両側性けいれん発作 | 両冠状縫合早期癒合 | 両眼隔離 | 中枢神経髄鞘形成遅延 | 乱視 | 人字縫合早期癒合 | 低い垂れ下がった鼻小柱 | 低身長 | 低酸素血症への感受性の減少 | 便秘 | 停留精巣 | 側弯 | 側頭葉皮質萎縮 | 僧帽弁逆流 | 先天性皮膚無形成 | 先天性股関節脱臼 | 先細りの指 | 全般性発達遅滞 | 全身性間代性強直性発作 | 内反尖足 | 内斜視 | 内眼角贅皮 | 冠状縫合早期癒合 | 凹足 | 前頭突出", "額突出 | 前頭葉皮質萎縮 | 反復性膝蓋骨脱臼 | 口蓋裂 | 咀嚼こんな | 喉頭軟化症 | 嚥下障害 | 外斜視 | 多動 | 大槽拡大 | 大脳萎縮 | 大脳髄鞘低形成 | 大頭 | 子宮内成長遅滞 | 小さい手 | 小さい耳朶 | 小耳 | 小陰茎 | 小頭 | 小顎 | 常染色体顕性遺伝 | 幅広い乳頭間距離 | 幅広い人中 | 幅広い口 | 幅広い額 | 幅広い鼻尖 | 幅広い鼻梁 | 幅広歩行 | 平坦な人中 | 弱視 | 後部小脳嚢胞 | 心室中隔欠損 | 心房中隔欠損 | 慢性中耳炎 | 成長障害 (成長不全) | 扁平足 | 手掌横線 | 持ち上がった耳朶 | 攻撃的行動 | 斜視 | 斜頭 | 新生児呼吸窮迫 | 柔らかい皮膚 | 歩行失調 | 歩行障害 | 歯ぎしり | 歯間隔離 | 比較的大頭 | 気管軟化症 | 水平眉毛 | 漏斗胸 | 焦点性発作 | 狭い口 | 狭い爪 | 狭い額 | 異常な顔の形 | 痙性四肢不全麻痺 | 発作 | 発語および言語発達遅延 | 発語不全 | 発語欠損 | 発語遅延 | 発達退行 | 皮質性視力障害 | 皮質脳回単純化 | 目立つ指尖パッド | 盾状胸 | 眼振 | 眼球突出 | 眼瞼下垂 | 眼瞼裂斜上 | 眼瞼裂斜下 | 睡眠時無呼吸 | 睡眠障害 | 矢状縫合早期癒合 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "軽度 | 知的障害", "重度 | 短い下顎 | 短い人中 | 短い足 | 短い頸部 | 短い鼻小柱 | 短指症候群 | 短頭 | 笑い発作 | 第5指弯指 | 筋緊張亢進 | 筋緊張低下 | 粗な顔貌 | 耳介低位 | 耳介聳立 | 耳輪の過剰な巻き込み | 肝腫 | 脊柱の異常 | 脊柱湾曲の異常 | 脊髄性筋萎縮 | 脳室周囲白質軟化症 | 脳室拡大 | 脳幹低形成 | 脳形態の異常 | 脳性麻痺 | 脳梁の異常 | 脳梁低形成 | 脳梁無発生 of | 脳波異常 | 腰椎前弯 hyperlordosis | 臍帯ヘルニア | 自傷行動 | 自閉性行動 | 自閉症 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 蝸牛神経の異常 | 衝動性 | 補助換気が必要な呼吸不全 | 足クローヌス | 足位置異常 | 軸外髄液貯留 | 連続眉毛 | 進行性筋虚弱 | 運動失調 | 運動発達遅滞 | 運動緩徐 | 遠視 | 長い人中 | 長い眼瞼裂 | 長頭 | 閉塞性睡眠時無呼吸 | 開口障害 (牙関緊急) | 関節過動 | 難聴 | 頭蓋合骨症 | 頭部の異常 | 頸定不全 | 食餌摂取障害 | 髄鞘形成遅延 | 高い額 | 高口蓋 | 黄斑ジストロフィー | 鼠径ヘルニア | 鼻翼未発達" ] }, { "id": "NANDO:2201075", "label_en": "Phenylalanine hydroxylase deficiency", "label_ja": "フェニルアラニン水酸化酵素欠損症", "yomigana": "ふぇにるあらにんすいさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201075", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal cerebral white matter morphology | Aggressive behavior | Anxiety | Ataxia | Attention deficit hyperactivity disorder | Atypical behavior | Autosomal recessive inheritance | Blue irides | Cataract | Cerebral calcification | Cerebral visual impairment | Compulsive behaviors | Dementia | Depression | Dry skin | EEG abnormality | Eczematoid dermatitis | Encephalopathy | Fair hair | Generalized hypopigmentation | Global developmental delay | Growth delay | Hyperactivity | Hyperphenylalaninemia | Hyperreflexia | Hypopigmentation of the skin | Intellectual disability | Irritability | Lower limb spasticity | Maternal hyperphenylalaninemia | Microcephaly | Osteopenia | Phenylpyruvic acidemia | Pregnancy history | Psychosis | Reduced phenylalanine hydroxylase level | Scleroderma | Seizure | Self-mutilation | Severe intellectual disability | Short attention span | Specific learning disability | Tremor" ], "symptoms_ja_list": [ "Dementia | phenylalanine hydroxylase 活性減少 | うつ | フェニルピルビン酸酸血症 | 下肢痙性 | 不安 | 乾いた皮膚 | 全般性発達遅滞 | 全身性低色素 | 出生前の母体異常 | 反射亢進 | 多動 | 大脳白質の異常 | 大脳石灰化 | 小頭 | 常染色体潜性遺伝 | 強皮症 | 強迫性行動 | 循環器系の形態異常 | 成長遅滞 | 振戦 | 攻撃的行動 | 母体高フェニールアラニン結晶 | 注意力欠陥多動性疾患 | 湿疹 | 特異的学習障害 | 発作 | 白内障 | 皮膚低色素 | 皮質性視力障害 | 知的障害 | 知的障害", "重度 | 短い注意期間 | 精神病 | 脳波異常 | 脳症 | 自己切断 | 行動異常 | 被刺激性 | 運動失調 | 金髪 | 青色虹彩 | 骨減少症 | 高フェニールアラニン血症" ] }, { "id": "NANDO:1200839", "label_en": "obsolete Hepatic glycogen storage disease type I-III-VI-IX", "label_ja": "obsolete 肝型糖原病Ⅰ-Ⅲ-Ⅵ-Ⅸ型", "yomigana": "obsolete かんがたとうげんびょう1-3-6-9がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200839", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200241", "label_en": "Acute generalized pustular psoriasis", "label_ja": "急性汎発性膿疱性乾癬", "yomigana": "きゅうせいはんぱつせいのうほうせいかんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200241", "notificationNumber": "37", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201067", "label_en": "Muckle-Wells syndrome", "label_ja": "マックル・ウェルズ症候群", "yomigana": "まっくる・うぇるずしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201067", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abdominal pain | Abnormal palate morphology | Abnormality of metabolism/homeostasis | Abnormality of the genital system | Abnormality of the nose | Abnormality of the voice | Anemia | Arthralgia | Arthritis | Autosomal dominant inheritance | Broad foot | Camptodactyly of finger | Childhood onset | Chronic fatigue | Clubbing of fingers | Conjunctivitis | Cranial nerve paralysis | Delayed puberty | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Episcleritis | Fever | Glaucoma | Headache | Hearing impairment | Hepatomegaly | Hernia of the abdominal wall | Ichthyosis | Increased intracranial pressure | Increased total leukocyte count | Infantile onset | Juvenile onset | Macrocephaly | Myalgia | Nephropathy | Nephrotic syndrome | Optic atrophy | Papilledema | Pes cavus | Polyarticular arthritis | Progressive sensorineural hearing impairment | Recurrent aphthous stomatitis | Recurrent fever | Renal amyloidosis | Renal insufficiency | Restrictive ventilatory defect | Short stature | Skin rash | Splenomegaly | Urticaria | Uveitis | Vasculitis" ], "symptoms_ja_list": [ "CRP 上昇 | ばち指 | ネフローゼ症候群 | ブドウ膜炎 | 上強膜炎 | 乳頭浮腫 | 代謝/ホメオスターシスの異常 | 低身長 | 凹足 | 反復性アフタ性口内炎 | 口蓋の異常 | 声の異常 | 多関節関節炎 | 大頭 | 屈指 | 常染色体顕性遺伝 | 幅広い足 | 思春期遅発 | 性器異常 | 慢性疲労 | 拘束性肺疾患 | 発熱 | 発熱エピソード | 白血球増多症 | 皮膚発疹 | 筋痛 | 結膜炎 | 緑内障 | 肝腫 | 脳神経麻痺 | 脾腫 | 腎アミロイド症 | 腎不全 | 腎症 | 腹壁ヘルニア | 腹痛 | 蕁麻疹 | 血管炎 | 視神経萎縮 | 貧血 | 赤沈値上昇 | 進行性感音難聴 | 関節炎 | 関節痛 | 難聴 | 頭痛 | 頭蓋内圧の増加 | 魚鱗癬 | 鼻の異常" ] }, { "id": "NANDO:2201025", "label_en": "Osteopathia striata", "label_ja": "骨線状症", "yomigana": "こつせんじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201025", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200415", "label_en": "Juvenile idiopathic arthritis", "label_ja": "若年性特発性関節炎", "yomigana": "じゃくねんせいとくはつせいかんせつえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200415", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200931", "label_en": "Macular dystrophy", "label_ja": "黄斑ジストロフィー", "yomigana": "おうはんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200931", "notificationNumber": "301", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200846", "label_en": "Other craniosynostosis", "label_ja": "37から39までに掲げるもののほか、重度の頭蓋骨縫合早期癒合症", "yomigana": "37から39までにかかげるもののほか、じゅうどのずがいこつそうきゆごうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200846", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100211", "label_en": "Chronic active EB virus infection", "label_ja": "慢性活動性EBウイルス感染症", "yomigana": "まんせいかつどうせいいーびーういるすかんせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100211", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200365", "label_en": "Hereditary angioedema", "label_ja": "遺伝性血管性浮腫", "yomigana": "いでんせいけっかんせいふしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_1200365", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Autosomal dominant inheritance | Systemic lupus erythematosus" ], "symptoms_ja_list": [ "全身性紅斑性狼瘡 | 常染色体顕性遺伝" ] }, { "id": "NANDO:1200464", "label_en": "CHARGE syndrome", "label_ja": "チャージ症候群", "yomigana": "ちゃーじしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200464", "notificationNumber": "105", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal cranial nerve morphology | Abnormal morphology of female internal genitalia | Abnormal pinna morphology | Abnormal rib morphology | Abnormal soft palate morphology | Abnormal tibia morphology | Abnormality of bone mineral density | Abnormality of immune system physiology | Abnormality of the adrenal glands | Abnormality of the eye | Abnormality of the inner ear | Abnormality of vision | Anophthalmia | Anosmia | Anterior hypopituitarism | Aortic arch aneurysm | Aplasia/Hypoplasia of the cerebellum | Aplasia/Hypoplasia of the earlobes | Aqueductal stenosis | Attention deficit hyperactivity disorder | Autism | Bifid femur | Bifid scrotum | Brachydactyly | Choanal atresia | Chorioretinal coloboma | Cleft palate | Cleft upper lip | Clinodactyly of the 5th finger | Coloboma | Compulsive behaviors | Cranial nerve paralysis | Cryptorchidism | Dandy-Walker malformation | Delayed eruption of teeth | Delayed puberty | Depressed nasal bridge | Dimple chin | Dysphagia | Epicanthus | Eyelid coloboma | Facial asymmetry | Facial palsy | Feeding difficulties in infancy | Gastroesophageal reflux | Global developmental delay | Hearing impairment | Hemivertebrae | Highly arched eyebrow | Holoprosencephaly | Horseshoe kidney | Hydronephrosis | Hypertelorism | Hypogonadotropic hypogonadism | Hypoplasia of the semicircular canal | Hypoplasia of the zygomatic bone | Hypotonia | Intellectual disability | Interrupted aortic arch | Intrauterine growth retardation | Iris coloboma | Labial hypoplasia | Lacrimation abnormality | Laryngomalacia | Microcephaly | Micropenis | Microphthalmia | Microtia | Narrow face | Narrow mouth | Nystagmus | Omphalocele | Optic atrophy | Overfolded helix | Patent ductus arteriosus | Polydactyly | Polyhydramnios | Posteriorly rotated ears | Postnatal growth retardation | Preauricular skin tag | Ptosis | Respiratory insufficiency | Scoliosis | Short stature | Strabismus | Talipes | Tetralogy of Fallot | Tracheoesophageal fistula | Umbilical hernia | Vesicoureteral reflux | Webbed neck" ], "symptoms_ja_list": [ "Dandy-Walker 奇形 | Fallot 四徴症 | コロボーマ | 三半規管低形成 | 上口唇裂 | 下垂体前葉機能低下症 | 下顎小孔 | 両眼隔離 | 二分した大腿骨 | 二分陰嚢 | 低ゴナドトロピン性性腺機能低下症 | 低身長 | 停留精巣 | 側弯 | 免疫系生理の異常 | 全前脳胞症 | 全般性発達遅滞 | 内眼角贅皮 | 内耳の異常 | 副腎異常 | 動脈管開存症 | 半脊椎 | 口蓋裂 | 呼吸不全 | 喉頭軟化症 | 嚥下障害 | 多指趾症 | 大動脈弁の異常 | 大動脈弓拡張 | 大動脈弓離断 | 女性内性器異常 | 子宮内成長遅滞 | 小眼球 | 小耳 | 小脳無形成/低形成 | 小陰茎 | 小頭 | 尖足 | 強迫性行動 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心中隔 | 思春期遅発 | 斜視 | 歯萠出遅延 | 気管食道瘻 | 水腎症 | 水道狭窄 | 注意力欠陥多動性疾患 | 流涙異常 | 無嗅覚 | 無眼球 | 狭い口 | 狭い顔 | 生後の成長遅滞 | 眼の異常 | 眼振 | 眼瞼下垂 | 眼瞼裂 | 知的障害 | 短指症候群 | 第5指弯指 | 筋緊張低下 | 羊水過多 | 翼状頚 | 耳介の異常 | 耳介前皮膚肉柱 | 耳介後方回転 | 耳朶無形成/低形成 | 耳輪の過剰な巻き込み | 肋骨の異常 | 胃食道逆流 | 脈絡膜網膜コロボーマ | 脛骨の異常 | 脳神経の異常 | 脳神経麻痺 | 膀胱尿管逆流 | 臍ヘルニア | 臍帯ヘルニア | 自閉症 | 落ちくぼんだ鼻梁 | 視神経萎縮 | 視覚の異常 | 軟口蓋の異常 | 陰唇低形成 | 難聴 | 頬骨未発達 | 顔面非対称 | 顔面麻痺 | 食餌摂取障害 in infancy | 馬蹄腎 | 骨ミネラル濃度の異常 | 高位の弓形眉毛" ] }, { "id": "NANDO:2201498", "label_en": "Focal cortical dysplasia", "label_ja": "限局性皮質異形成", "yomigana": "げんきょくせいひしついけいせい", "url": "http://nanbyodata.jp/ontology/NANDO_2201498", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [ "Abnormal cortical gyration | Abnormal neuron morphology | Abnormality of the nervous system | Atypical behavior | Bilateral tonic-clonic seizure with focal onset | Cognitive impairment | Epileptic spasm | Focal impaired awareness seizure | Focal-onset seizure | Generalized-onset seizure | Hemiparesis | Infantile spasms | Mild intellectual disability | Psychomotor deterioration | Seizure | Severe intellectual disability | Thick cerebral cortex" ], "symptoms_ja_list": [ "てんかん性スパスム | 両側性けいれん発作 | 乳児スパスム | 全身性発作 | 分厚い大脳皮質 | 意識または覚醒障害を伴う焦点性発作 | 焦点性発作 | 片側不全麻痺 | 異常なニューロン形態 | 異常な皮質脳回形成 | 発作 | 知的障害", "軽度 | 知的障害", "重度 | 神経系の異常 | 精神運動発達悪化 | 行動異常 | 認知障害" ] }, { "id": "NANDO:2100268", "label_en": "Liver cirrhosis", "label_ja": "肝硬変症", "yomigana": "かんこうへんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100268", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200708", "label_en": "Pulmonary atresia with ventricular septal defect", "label_ja": "心室中隔欠損を伴う肺動脈閉鎖症", "yomigana": "しんしつちゅうかくけっそんをともなうはいどうみゃくへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200708", "notificationNumber": "214", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Autosomal dominant inheritance | Pulmonary artery atresia | Ventricular septal defect" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 心室中隔欠損 | 肺動脈閉鎖" ] }, { "id": "NANDO:1200447", "label_en": "Crohn ileocolitis", "label_ja": "小腸大腸型クローン病", "yomigana": "しょうちょうだいちょうがたくろーんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200447", "notificationNumber": "96", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201391", "label_en": "Branchio-oto-renal syndrome", "label_ja": "鰓耳腎症候群", "yomigana": "さいじじんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201391", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Abnormal lacrimal duct morphology | Abnormal middle ear morphology | Abnormal nasolacrimal system morphology | Abnormal pinna morphology | Abnormality of the inner ear | Abnormality of the middle ear | Abnormality of the middle ear ossicles | Abnormality of the outer ear | Aplasia/Hypoplasia of the cochlea | Atresia of the external auditory canal | Branchial anomaly | Branchial cyst | Branchial fistula | Branchial sinus | Cleft palate | Conductive hearing impairment | Dilatation of renal calices | Enlarged cochlear aqueduct | Enlarged vestibular aqueduct | Euthyroid goiter | Facial asymmetry | Facial palsy | Gustatory lacrimation | Hearing impairment | Hydronephrosis | Hypoplasia of the cochlea | Lacrimal duct aplasia | Lip pit | Lop ear | Micrognathia | Microtia | Mixed hearing impairment | Multicystic kidney dysplasia | Preauricular pit | Preauricular skin tag | Renal hypoplasia/aplasia | Renal insufficiency | Retrognathia | Sensorineural hearing impairment | Stenosis of the external auditory canal | Ureteropelvic junction obstruction | Vesicoureteral reflux" ], "symptoms_ja_list": [ "下顎後退 | 中耳の形態異常 | 中耳の異常 | 中耳耳小骨の異常 | 伝音難聴 | 内耳の異常 | 前庭水道拡大 | 口唇小孔 | 口蓋裂 | 味覚性流涙 | 垂耳 | 外耳の異常 | 外耳道狭窄 | 外耳道閉鎖 | 多嚢胞腎異形成 | 小耳 | 小顎 | 尿管腎盂接合部閉塞 | 巨大腎杯症 | 感音難聴 | 水腎症 | 涙管の異常 | 涙管無形成 | 混合性難聴 | 甲状腺機能正常性甲状腺腫 | 耳介の異常 | 耳介前小孔 | 耳介前皮膚肉柱 | 腎不全 | 腎低形成/無形成 | 膀胱尿管逆流 | 蝸牛低形成 | 蝸牛水道拡大 | 蝸牛無形成/低形成 | 難聴 | 顔面非対称 | 顔面麻痺 | 鰓奇形 | 鰓洞 | 鰓瘻 | 鰓膿疱 | 鼻涙管の異常" ] }, { "id": "NANDO:2100036", "label_en": "Bronchiectasis", "label_ja": "気管支拡張症", "yomigana": "きかんしかくちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100036", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201023", "label_en": "obsolete Micro-deletion syndrome and other syndromes", "label_ja": "obsolete 微細欠失症候群等症候群", "yomigana": "obsolete びさいけっしつしょうこうぐんとうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201023", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100088", "label_en": "Total anomalous pulmonary venous connection", "label_ja": "総肺静脈還流異常症", "yomigana": "そうはいじょうみゃくかんりゅういじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100088", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200287", "label_en": "Hypertrophic non-obstructive cardiomyopathy", "label_ja": "非閉塞性肥大型心筋症", "yomigana": "ひへいそくせいひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200287", "notificationNumber": "58", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200089", "label_en": "Oligodendroglioma", "label_ja": "乏突起神経膠腫", "yomigana": "ぼうとっきしんけいこうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200089", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100282", "label_en": "Oculocutaneous albinism (Congenital albinism)", "label_ja": "眼皮膚白皮症（先天性白皮症）", "yomigana": "がんひふはくひしょう（せんてんせいはくひしょう）", "url": "http://nanbyodata.jp/ontology/NANDO_2100282", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201528", "label_en": "Rothmund-Thomson syndrome type1", "label_ja": "ロスムンド・トムソン症候群 type1", "yomigana": "ろすむんど・とむそんしょうこうぐん たいぷ1", "url": "http://nanbyodata.jp/ontology/NANDO_2201528", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal dental enamel morphology | Abnormal trabecular bone morphology | Abnormal ulnar metaphysis morphology | Abnormality of immune system physiology | Abnormality of the dentition | Abnormality of the radial head | Absent eyebrow | Absent eyelashes | Alopecia totalis | Anemia | Aplasia/Hypoplasia of the eyebrow | Aplastic anemia | Attention deficit hyperactivity disorder | Autosomal recessive inheritance | Basal cell carcinoma | Cafe-au-lait spot | Calcinosis | Carious teeth | Conical tooth | Cryptorchidism | Decreased total neutrophil count | Delayed eruption of teeth | Delayed skeletal maturation | Dermal atrophy | Developmental cataract | Diarrhea | Facial edema | Facial erythema | Finger symphalangism | Functional abnormality of the gastrointestinal tract | Genu varum | Global developmental delay | Growth delay | Hyperkeratosis | Hyperpigmentation of the skin | Hypogonadism | Hypopigmentation of the skin | Hypothyroidism | Intellectual disability | Juvenile cataract | Leukemia | Male hypogonadism | Melanoma | Metaphyseal sclerosis | Microdontia | Multiple skeletal anomalies | Myelodysplasia | Nail dysplasia | Nail dystrophy | Neoplasm of the skin | Osteopenia | Osteoporosis | Osteosarcoma | Patellar aplasia | Patellar hypoplasia | Plantar hyperkeratosis | Poikiloderma | Porokeratosis | Premature ovarian insufficiency | Recurrent otitis media | Short metacarpal | Short phalanx of finger | Short stature | Small for gestational age | Sparse hair | Sparse or absent eyelashes | Squamous cell carcinoma | Telangiectasia | Thin nail | Tooth agenesis | Vomiting" ], "symptoms_ja_list": [ "カフェオーレ斑 | 下痢 | 低身長 | 停留精巣 | 先天性白内障 | 免疫系生理の異常 | 全禿頭 | 全般性発達遅滞 | 内反膝 | 円錐型切歯 | 再生不良性貧血 | 反復性中耳炎 | 嘔吐 | 在胎月齢より小さい児 | 基底細胞癌 | 多形皮膚萎縮症 (ポイキロデルマ) | 多発性骨格奇形 | 好中球減少症 | 小歯 | 尺骨骨幹端の異常 | 常染色体潜性遺伝 | 性腺機能低下症 | 成長遅滞 | 指骨癒合症 | 早発性卵巣不全 | 橈骨頭の異常 | 歯の異常 | 歯エナメル質異常 | 歯数の減少 number of teeth | 歯萠出遅延 | 毛細血管拡張 | 汗孔角化症 | 注意力欠陥多動性疾患 | 海綿骨形態異常 | 爪ジストロフィー | 爪異形成 | 甲状腺機能低下症 | 男性性腺機能低下症 | 異常な皮膚水泡 | 疎な/欠損した睫毛 | 疎な毛髪 | 白血病 | 皮膚低色素 | 皮膚新生物 | 皮膚萎縮 | 皮膚高色素 | 眉毛の無形成/低形成 | 眉毛欠損 | 睫毛欠損 | 知的障害 | 短い中手骨 | 短い指骨 | 石灰症 | 胃腸管機能異常 | 膝蓋骨低形成 | 膝蓋骨無形成無形成 | 若年性白内障 | 薄い爪 | 貧血 | 足底過角化症 | 過角化症 | 顔面浮腫 | 顔面紅斑 | 骨幹端硬化症 | 骨格骨化遅延 | 骨減少症 | 骨粗鬆症 | 骨肉腫 | 骨髄異形成 | 黒色腫 | 齲歯" ] }, { "id": "NANDO:1200149", "label_en": "obsolete Salla disease", "label_ja": "obsolete サラ病", "yomigana": "さらびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200149", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100100", "label_en": "Vascular ring", "label_ja": "血管輪", "yomigana": "けっかんりん", "url": "http://nanbyodata.jp/ontology/NANDO_2100100", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200477", "label_en": "Congenital myopathy", "label_ja": "先天性ミオパチー", "yomigana": "せんてんせいみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200477", "notificationNumber": "111", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201414", "label_en": "WDR45 associated neurodegeneration", "label_ja": "WDR45関連神経変性症", "yomigana": "だぶりゅでぃーあーる45かんれんしんけいへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201414", "notificationNumber": "95", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100241", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormality of eye movement | Absent speech | Aggressive behavior | Akinesia | Anxiety | Bradykinesia | Cerebellar atrophy | Cerebral atrophy | Childhood onset | Delayed speech and language development | Dementia | Dystonia | Eye of the tiger anomaly of globus pallidus | Frontal release signs | Global developmental delay | Intellectual disability | Iron accumulation in brain | Iron accumulation in substantia nigra | Mental deterioration | Neurodegeneration | Optic atrophy | Parkinsonism | Poor speech | Progressive encephalopathy | Rigidity | Seizure | Sleep disturbance | Spastic paraparesis | Tremor | X-linked dominant inheritance" ], "symptoms_ja_list": [ "Dementia | X連鎖顕性遺伝 | ジストニア | パーキンソン症候群 | フロンタルリリースサイン | 不安 | 全般性発達遅滞 | 大脳萎縮 | 小脳萎縮 | 振戦 | 攻撃的行動 | 淡蒼球の虎の眼奇形 | 無動症 | 異常な自律神経生理 | 痙性対不全麻痺 | 発作 | 発語および言語発達遅延 | 発語不全 | 発語欠損 | 眼運動の異常 | 睡眠障害 | 知的障害 | 知能悪化 | 硬直 | 神経変性 | 脳内鉄沈着 | 視神経萎縮 | 進行性脳症 | 運動緩徐 | 黒質内鉄沈着" ] }, { "id": "NANDO:1200289", "label_en": "Mid-ventricular obstructive hypertrophic cardiomyopathy", "label_ja": "心室中部閉塞性肥大型心筋症", "yomigana": "しんしつちゅうぶへいそくせいひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200289", "notificationNumber": "58", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201481", "label_en": "Primary atrophic kidney", "label_ja": "原発性萎縮腎", "yomigana": "げんぱつせいいしゅくじん", "url": "http://nanbyodata.jp/ontology/NANDO_2201481", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100026", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201378", "label_en": "Herlitz junctional epidermolysis bullosa", "label_ja": "ヘルリッツ型表皮水疱症", "yomigana": "へるりっつがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201378", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal circulating electrolyte concentration | Abnormal cornea morphology | Abnormal fingertip morphology | Abnormal nail morphology | Abnormal oral mucosa morphology | Abnormality of the bladder | Abnormality of the upper respiratory tract | Alopecia | Anemia | Anonychia | Aplasia cutis congenita | Aplasia/Hypoplasia of the bladder | Atrophic scars | Autosomal recessive inheritance | Bradycardia | Carious teeth | Congenital localized absence of skin | Congenital onset | Constipation | Death in infancy | Dehydration | Dilated cardiomyopathy | Duplicated collecting system | Dyspnea | Dysuria | Edema | Enamel hypoplasia | Esophageal stricture | Failure to thrive | Fragile skin | Gastrointestinal inflammation | Growth delay | Hoarse cry | Hoarse voice | Hydronephrosis | Hydroureter | Lamina lucida cleavage | Laryngeal stenosis | Malnutrition | Milia | Mitten deformity | Multicystic kidney dysplasia | Nail dysplasia | Nail dystrophy | Osteoporosis | Paronychia | Pneumonia | Pneumothorax | Pyloric stenosis | Pyoderma | Recurrent skin infections | Recurrent urinary tract infections | Renal cyst | Renal tubular epithelial necrosis | Respiratory distress | Respiratory failure | Seizure | Sepsis | Skin erosion | Skin plaque | Squamous cell carcinoma | Stridor | Syndactyly | Unexplained fevers | Ureteral obstruction | Ureterocele | Urethral stricture | Urinary retention | Vomiting" ], "symptoms_ja_list": [ "ミトン変形 | 上気道の異常 | 不明熱 | 便秘 | 先天性皮膚無形成 | 先天性限局性皮膚欠損 | 反復性尿路感染症 | 反復性皮膚感染症 | 口腔粘膜異常 | 合指趾症 | 呼吸不全 | 呼吸困難 | 呼吸窮迫 | 喉頭狭窄 | 喘鳴 | 嗄声 | 嘔吐 | 基底細胞癌 | 多嚢胞腎異形成 | 尿管瘤 | 尿管閉塞 | 尿道胸抱く | 尿閉 | 常染色体潜性遺伝 | 幽門狭窄 | 徐脈 | 急性尿細管壊死 | 成長遅滞 | 成長障害 (成長不全) | 拡張型心筋症 | 指尖の異常 | 排尿障害 | 接合部亀裂 | 敗血症 | 栄養失調 | 歯エナメル質低形成 | 気胸 | 水尿管症 | 水腎症 | 浮腫 | 無爪症 | 爪の異常 | 爪ジストロフィー | 爪周囲炎 | 爪異形成 | 異常な皮膚水泡 | 発作 | 皮膚びらん | 皮膚局面 | 禿頭 | 稗粒腫 | 粗い泣き声 | 肺炎 | 胃腸炎症 | 脆い皮膚 | 脱水 | 腎嚢胞 | 膀胱無形成/低形成 | 膀胱異常 | 膿皮症 | 萎縮性瘢痕 | 角膜の異常 | 貧血 | 鉄ホメオスターシスの異常 | 集合管重複 | 食道胸抱く | 骨粗鬆症 | 齲歯" ] }, { "id": "NANDO:2200539", "label_en": "Glycogen storage disease type III", "label_ja": "糖原病III型", "yomigana": "とうげんびょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200539", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Autosomal recessive inheritance | Broad nasal tip | Cardiomyopathy | Deeply set eye | Depressed nasal bridge | Distal amyotrophy | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Full cheeks | Hepatic fibrosis | Hepatomegaly | Hyperlipidemia | Hypertriglyceridemia | Hypoglycemia | Immunodeficiency | Malar flattening | Midface retrusion | Mild intellectual disability | Muscle weakness | Myopathy | Short stature | Thin upper lip vermilion | Thin vermilion border | Ventricular hypertrophy" ], "symptoms_ja_list": [ "ミオパチー | 低血糖 | 低身長 | 免疫不全 | 大きな頬 | 常染色体潜性遺伝 | 幅広い鼻尖 | 平坦な頬 | 心室肥大 | 心筋症 | 知的障害", "軽度 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝線維症 | 肝腫 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 薄い唇紅部縁 | 血清 creatine phosphokinase上昇 | 遠位筋萎縮 | 顔面中部後退 | 高トリグリセリド血症 | 高脂血症" ] }, { "id": "NANDO:2200218", "label_en": "Multiple atrial tachycardia", "label_ja": "多源性心房頻拍", "yomigana": "たげんせいしんぼうひんぱく", "url": "http://nanbyodata.jp/ontology/NANDO_2200218", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100048", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200727", "label_en": "obsolete Slight mesangial proliferative glomerulonephritis", "label_ja": "obsolete メサンギウム細胞軽度増殖性糸球体腎炎", "yomigana": "めさんぎうむさいぼうけいどぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200727", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200584", "label_en": "Hypomyelination and congenital cataract", "label_ja": "先天性白内障を伴う髄鞘形成不全症", "yomigana": "せんてんせいはくないしょうをともなうずいしょうけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200584", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cerebellum morphology | Abnormal pyramidal sign | Autosomal recessive inheritance | Axial hypotonia | Babinski sign | CNS hypomyelination | Cerebral hypomyelination | Cerebral white matter atrophy | Congenital onset | Decreased motor nerve conduction velocity | Delayed brainstem auditory evoked response conduction time | Delayed somatosensory central conduction time | Developmental cataract | Dysarthria | Global developmental delay | Hyperreflexia | Intellectual disability | Intention tremor | Leukodystrophy | Loss of ambulation | Lower limb amyotrophy | Lower limb muscle weakness | Moderate intellectual disability | Motor delay | Onion bulb formation | Polyneuropathy | Scoliosis | Seizure" ], "symptoms_ja_list": [ "Babinski サイン | オニオンバルブ形成 | ポリニューロパチー | ロイコジストロフィー | 下肢筋萎縮 | 下肢筋虚弱 | 中枢性身体感覚誘発電位の異常 | 中枢神経髄鞘形成低下 | 企図振戦 | 体幹の筋緊張低下 | 側弯 | 先天性白内障 | 全般性発達遅滞 | 反射亢進 | 大脳白質萎縮 | 大脳髄鞘低形成 | 小脳の異常 | 常染色体潜性遺伝 | 構音障害 | 発作 | 知的障害 | 知的障害", "中道動脈瘤 | 進行性歩行不安定 | 運動発達遅滞 | 運動神経活動電位の振幅減少 | 遷延性脳幹聴性誘発反応 | 錐体路運動機能の異常" ] }, { "id": "NANDO:2201052", "label_en": "Multiple endocrine neoplasia type 2A", "label_ja": "MEN2A", "yomigana": "えむいーえぬ2えー", "url": "http://nanbyodata.jp/ontology/NANDO_2201052", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100148", "symptoms_en_list": [ "Adult onset | Aganglionic megacolon | Autosomal dominant inheritance | Chest pain | Elevated circulating calcitonin concentration | Elevated urinary dopamine level | Elevated urinary epinephrine level | Elevated urinary norepinephrine level | Elevated urinary vanillylmandelic acid | Headache | Hyperparathyroidism | Hypertension | Hypertensive crisis | Increased circulating cortisol level | Medullary thyroid carcinoma | Palpitations | Parathyroid adenoma | Pheochromocytoma | Thyroid C cell hyperplasia | Young adult onset" ], "symptoms_ja_list": [ "カルシトニン上昇 | 共通 | 副甲状腺機能亢進症 | 副甲状腺腺腫 | 動悸 | 尿中エピネフリン上昇 | 尿中ドパミン上昇 | 尿中ノルエピネフリン上昇 | 尿中バニリルマンデル酸上昇 | 常染色体顕性遺伝 | 循環性コルチゾール 値増加 | 無神経節性巨大結腸 | 甲状腺 C 細胞 | 甲状腺髄様癌 | 褐色細胞腫 | 頭痛 | 高血圧 | 高血圧クライシス" ] }, { "id": "NANDO:2201243", "label_en": "Juvenile neuronal ceroid lipofuscinosis", "label_ja": "若年型神経セロイドリポフスチン症", "yomigana": "じゃくねんがたしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201243", "notificationNumber": "121", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200576", "label_en": "Pelizaeus-Merzbacher disease", "label_ja": "ペリツェウス・メルツバッハ病", "yomigana": "ぺりつぇうす・めるつばっはびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200576", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal CNS myelination | Abnormal pyramidal sign | Abnormal speech pattern | Abnormality of movement | Abnormality of the urinary system | Abnormality of visual evoked potentials | Apathy | Arteriovenous malformation | Ataxia | Atypical behavior | Bowel incontinence | Broad-based gait | CNS hypomyelination | Cachexia | Cerebellar vermis atrophy | Cerebral cortical atrophy | Cerebral dysmyelination | Choreoathetosis | Cognitive impairment | Congenital laryngeal stridor | Delayed speech and language development | Depression | Developmental regression | Dysarthria | Dysphagia | Dystonia | Failure to thrive | Failure to thrive in infancy | Gait disturbance | Generalized dystonia | Global brain atrophy | Global developmental delay | Head titubation | Hearing impairment | Hyporeflexia | Hypotonia | Inability to walk | Infantile onset | Intellectual disability | Intention tremor | Joint stiffness | Kyphosis | Mental deterioration | Microcephaly | Nystagmus | Optic atrophy | Peripheral neuropathy | Premature birth | Progressive spastic quadriplegia | Psychomotor deterioration | Recurrent respiratory infections | Reduction of oligodendroglia | Respiratory insufficiency | Rotary nystagmus | Scanning speech | Scoliosis | Seizure | Short stature | Slowly progressive | Spastic paraplegia | Spasticity | Sudanophilic leukodystrophy | Tremor | Urinary urgency | Vertical supranuclear gaze palsy | Visual impairment | Writer's cramp | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うつ | ジストニア | ズダン好性ロイコジストロフィー | 中枢神経髄鞘形成低下 | 乏突起膠細胞減少 | 乳児期の成長障害 (成長不全) | 企図振戦 | 低身長 | 側弯 | 先天性喉頭喘鳴 | 全般性発達遅滞 | 全般性脳萎縮 | 全身性ジストニア | 動静脈奇形 | 反射低下 | 反復性呼吸器感染症 | 呼吸不全 | 嚥下障害 | 回転性眼振 | 垂直性核上性注視麻痺 | 大脳皮質萎縮 | 大脳髄鞘形成異常症 | 小脳虫部萎縮 | 小頭 | 尿意切迫 | 尿路異常 | 幅広歩行 | 後弯 | 悪液質 (カヘキシー) | 成長障害 (成長不全) | 手揺動 | 振戦 | 断綴言 | 早産 | 書痙 | 末梢神経ニューロパチー | 構音障害 | 歩行不能 | 歩行障害 | 無関心", "感情鈍磨 | 異常な中枢神経髄鞘形成 | 痙性 | 痙性対麻痺 | 発作 | 発語および言語発達遅延 | 発達退行 | 眼振 | 知的障害 | 知能悪化 | 神経学的発語障害 | 筋緊張低下 | 精神運動発達悪化 | 舞踏病アテトーゼ | 行動異常 | 視力障害 | 視神経萎縮 | 視覚誘発電位の異常 | 認知障害 | 進行性痙性四肢麻痺 | 運動の異常 | 運動失調 | 遺糞症 | 錐体路運動機能の異常 | 関節拘縮 | 難聴" ] }, { "id": "NANDO:3000003", "label_en": "Intellectual disability/epilepsy group", "label_ja": "知的障害・てんかん群", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_3000003", "notificationNumber": "", "obsolete": 1, "category": "other", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200318", "label_en": "Growth hormone deficiency not caused by cerebral organic disorders", "label_ja": "成長ホルモン分泌不全性低身長症（脳の器質的原因によるものを除く。）", "yomigana": "せいちょうほるもんぶんぴつふぜんせいていしんちょうしょう（のうのきしつてきげんいんによるものをのぞく。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200318", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100113", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201443", "label_en": "Partial lipodystrophy", "label_ja": "部分的脂肪萎縮症", "yomigana": "ぶぶんてきしぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201443", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100147", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200806", "label_en": "Hypereosinophilic syndrome", "label_ja": "特発性好酸球増加症", "yomigana": "とくはつせいこうさんきゅうぞうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200806", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100210", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1100008", "label_en": "Bone and joint disease", "label_ja": "骨・関節系疾患", "yomigana": "こつ・かんせつけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100008", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201430", "label_en": "Spinal muscular atrophy type I", "label_ja": "脊髄性筋萎縮症I型", "yomigana": "せきずいせいきんいしゅくしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201430", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100231", "symptoms_en_list": [ "Areflexia | Atrial septal defect | Autosomal recessive inheritance | Death in childhood | Decreased fetal movement | EMG: neuropathic changes | Generalized hypotonia | Infantile onset | Neonatal onset | Poor head control | Proximal amyotrophy | Proximal lower limb muscle weakness | Recurrent respiratory infections | Respiratory failure | Respiratory insufficiency | Spinal muscular atrophy | Tongue fasciculations | Ventricular septal defect" ], "symptoms_ja_list": [ "下肢の近位筋虚弱 | 全身性筋緊張低下 | 反復性呼吸器感染症 | 呼吸不全 | 常染色体潜性遺伝 | 心室中隔欠損 | 心房中隔欠損 | 無反射 | 筋電図: 神経症変化 | 胎動減少 | 脊髄性筋萎縮 | 舌線維束性収縮 | 近位筋萎縮 | 頸定不全" ] }, { "id": "NANDO:1200736", "label_en": "obsolete Acute diffuse marked membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 高度急性・びまん型膜性増殖性糸球体腎炎", "yomigana": "こうどきゅうせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200736", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201496", "label_en": "Syringomyelia secondary to other causes", "label_ja": "その他の続発性脊髄空洞症", "yomigana": "そのたのぞくはつせいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201496", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200499", "label_en": "Becker disease", "label_ja": "ベッカー病", "yomigana": "べっかーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200499", "notificationNumber": "114", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal recessive inheritance | Childhood onset | Dysphagia | EMG: myotonic runs | Juvenile onset | Muscle hypertrophy of the lower extremities | Muscle stiffness | Muscle weakness | Myalgia | Myotonia | Myotonia with warm-up phenomenon | Percussion myotonia | Skeletal muscle hypertrophy | Young adult onset" ], "symptoms_ja_list": [ "ウォームアップ減少を伴うミオトニア | ミオトニア | 下肢筋肥大 | 叩打性ミオトニア | 嚥下障害 | 常染色体潜性遺伝 | 筋痛 | 筋硬直 | 筋肥大 | 筋虚弱 | 筋電図: ミオトニア反応" ] }, { "id": "NANDO:2201093", "label_en": "Presymptomatic argininosuccinate synthetase deficiency", "label_ja": "発症前型アルギニノコハク酸合成酵素欠損症", "yomigana": "はっしょうまえがたあるぎにのこはくさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201093", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201505", "label_en": "Focal cortical dysplasia type 3b", "label_ja": "限局性皮質異形成タイプ3b", "yomigana": "げんきょくせいひしついけいせいたいぷ3びー", "url": "http://nanbyodata.jp/ontology/NANDO_2201505", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200962", "label_en": "4p- Syndrome", "label_ja": "4p-症候群", "yomigana": "4ぴーまいなすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200962", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abdominal situs inversus | Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal foot morphology | Abnormal heart valve morphology | Abnormal lip morphology | Abnormal pinna morphology | Abnormal sternal ossification | Abnormal thorax morphology | Abnormal vertebral body morphology | Abnormal vertebral morphology | Abnormality of movement | Abnormality of the gallbladder | Abnormality of the genital system | Abnormality of the genitourinary system | Abnormality of the immune system | Abnormality of the kidney | Abnormality of the mouth | Abnormality of the philtrum | Abnormality of the urinary system | Abnormality of the vertebral column | Absent septum pellucidum | Accessory spleen | Agenesis of corpus callosum | Aplasia cutis congenita of scalp | Aplasia of the uterus | Aplasia/Hypoplasia of the cerebellum | Aplasia/Hypoplasia of the lungs | Aplasia/Hypoplasia of the nipples | Arachnodactyly | Ataxia | Atrial septal defect | Autosomal dominant inheritance | Biliary tract abnormality | Calvarial skull defect | Cavum septum pellucidum | Chronic otitis media | Cleft palate | Cleft upper lip | Conductive hearing impairment | Congenital diaphragmatic hernia | Convex nasal ridge | Craniofacial asymmetry | Cryptorchidism | Decreased circulating IgA concentration | Decreased fetal movement | Decreased muscle mass | Delayed eruption of teeth | Delayed skeletal maturation | Disproportionate tall stature | Dolichocephaly | Downslanted palpebral fissures | Downturned corners of mouth | Dry skin | EEG abnormality | Ectopia pupillae | Epicanthus | Failure to thrive | Feeding difficulties | Frontal bossing | Gastroesophageal reflux | Generalized hypotonia | Glaucoma | Global developmental delay | Growth delay | Hearing impairment | Hemangioma | Hernia | High anterior hairline | High forehead | Highly arched eyebrow | Hip dislocation | Hip dysplasia | Hydrocephalus | Hyperconvex fingernails | Hypertelorism | Hypodontia | Hypoplastic pubic ramus | Hypospadias | Hypotonia | Immunodeficiency | Intrauterine growth retardation | Iris coloboma | Kyphosis | Low posterior hairline | Malrotation of small bowel | Megalocornea | Metacarpal pseudoepiphysis | Metatarsus adductus | Microcephaly | Micrognathia | Microtia | Morphological central nervous system abnormality | Motor stereotypy | Nystagmus | Optic atrophy | Orofacial cleft | Osteoporosis | Periventricular cysts | Posteriorly rotated ears | Preauricular pit | Preauricular skin tag | Preaxial foot polydactyly | Preaxial hand polydactyly | Precocious puberty | Prominent glabella | Proptosis | Ptosis | Radioulnar synostosis | Recurrent respiratory infections | Retinopathy | Rib fusion | Rib segmentation abnormalities | Rieger anomaly | Sacral dimple | Sclerocornea | Scoliosis | Seizure | Sensorineural hearing impairment | Severe intellectual disability | Severe postnatal growth retardation | Short hallux | Short philtrum | Short stature | Short thumb | Short upper lip | Single transverse palmar crease | Sleep disturbance | Small for gestational age | Split hand | Sporadic | Stenosis of the external auditory canal | Strabismus | Streak ovary | Talipes equinovarus | Taurodontia | Tethered cord | Ventricular septal defect | Ventriculomegaly | Vertebral fusion | Webbed neck | Wide nasal bridge" ], "symptoms_ja_list": [ "IgA欠乏症 | Rieger 奇形 | くも指 | コロボーマ | ヘルニア | 上口唇裂 | 不均衡型高身長 | 両眼隔離 | 中枢神経の形態異常 | 乳頭無形成/低形成 | 乾いた皮膚 | 人中の異常 | 仙骨部陥凹 | 伝音難聴 | 低身長 | 係留脊髄 | 停留精巣 | 側弯 | 偽骨端 (中手骨) | 先天性横隔膜ヘルニア | 先天性頭皮無形成 | 免疫不全 | 免疫系の異常 | 全般性発達遅滞 | 全身性筋緊張低下 | 内反尖足 | 内眼角贅皮 | 内転中足骨 | 凸の指爪 | 凸の鼻梁 | 前頭突出", "額突出 | 副脾 | 反復性呼吸器感染症 | 口の異常 | 口唇の異常 | 口腔裂 | 口蓋裂 | 口角下垂 | 在胎月齢より小さい児 | 外耳道狭窄 | 子宮内成長遅滞 | 子宮無形成 | 孤発性 | 小耳 | 小脳無形成/低形成 | 小腸回転異常 | 小頭 | 小顎 | 尿路異常 | 尿道下裂 | 巨大角膜 | 常同行動 | 常染色体顕性遺伝 | 幅広い鼻梁 | 後弯 | 後部毛髪線低位 | 循環器系の形態異常 | 心中隔 | 心室中隔欠損 | 心弁の異常 | 心房中隔欠損 | 思春期早発 | 性器異常 | 恥骨枝低形成 | 感音難聴 | 慢性中耳炎 | 成長遅滞 | 成長障害 (成長不全) | 手掌横線 | 斜視 | 椎体骨形態異常 | 橈尺骨癒合 | 歯萠出遅延 | 水頭症 | 泌尿生殖器異常 | 減歯症 | 牛歯 | 異所性瞳孔 pupillae | 発作 | 目立つ眉間 | 眼振 | 眼球突出 | 眼瞼下垂 | 眼瞼裂斜下 | 睡眠障害 | 知的障害", "重度 | 短い上口唇 | 短い人中 | 短い母指 | 短い母趾 | 筋緊張低下 | 筋量減少 | 索状卵巣 | 網膜症 | 緑内障 | 翼状頚 | 耳介の異常 | 耳介前小孔 | 耳介前皮膚肉柱 | 耳介後方回転 | 肋骨分節化異常 | 肋骨癒合 | 股関節異形成 | 股関節脱臼 | 肺無形成/低形成 | 胃食道逆流 | 胆嚢の異常 | 胆管異常 | 胎動減少 | 胸郭の異常 | 胸骨骨化異常 | 脊柱の異常 | 脊椎の異常 | 脊椎骨癒合 | 脳室周囲嚢胞 | 脳室拡大 | 脳梁無発生 of | 脳波異常 | 腎異常 | 腹部内臓逆位 | 血管腫 | 裂手 | 視神経萎縮 | 角膜硬化 | 足の異常 | 軸前性多指症 | 軸前性多趾症 | 透明中隔嚢胞 | 透明中隔欠損 | 運動の異常 | 運動失調 | 重度の生後の成長遅滞 | 長頭 | 難聴 | 頭蓋顔面非対称 | 頭蓋骨欠損t | 食餌摂取障害 | 骨格骨化遅延 | 骨粗鬆症 | 高い前部毛髪線 | 高い額 | 高位の弓形眉毛" ] }, { "id": "NANDO:1200168", "label_en": "Adrenomyeloneuropathy", "label_ja": "副腎脊髄ニューロパチー", "yomigana": "ふくじんせきずいにゅーろぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200168", "notificationNumber": "20", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating fatty acid concentration | Abnormal skin pigmentation | Abnormal spinal cord morphology | Adrenal insufficiency | Adrenocortical abnormality | Adrenocorticotropic hormone excess | Atrophy of the spinal cord | Atrophy/Degeneration involving the corticospinal tracts | Atypical behavior | Babinski sign | Back pain | Bowel incontinence | Cerebral dysmyelination | Cognitive impairment | Decreased circulating vitamin B12 concentration | Delayed somatosensory central conduction time | Distal lower limb muscle weakness | Distal sensory impairment | Dorsal column degeneration | Dysarthria | Dysesthesia | Erectile dysfunction | Fatigue | Fine hair | Frontal balding | Functional motor deficit | Hyperreflexia | Intra-oral hyperpigmentation | Leg muscle stiffness | Lip hyperpigmentation | Memory impairment | Peripheral axonal degeneration | Peripheral neuropathy | Primary adrenal insufficiency | Progressive spastic paraparesis | Spastic gait | Spasticity | Urinary bladder sphincter dysfunction | Urinary incontinence | Urinary retention | Urinary urgency | Very long chain fatty acid accumulation" ], "symptoms_ja_list": [ "Babinski サイン | ビタミンB12欠乏症 | 下肢筋硬直 | 中枢性身体感覚誘発電位の異常 | 前頭部禿頭 | 副腎不全 | 副腎皮質刺激ホルモン過剰 | 副腎皮質異常 | 勃起異常 | 原発性副腎不全 | 反射亢進 | 口唇高色素 | 口腔内高色素 | 大脳髄鞘形成異常症 | 尿意切迫 | 尿閉 | 後柱変性 | 感覚異常 | 末梢神経ニューロパチー | 末梢神経軸索変性 | 極長鎖脂肪酸蓄積 | 構音障害 | 機能的筋異常 | 疲労 | 痙性 | 痙性歩行 | 皮膚色素の異常 | 皮質脊髄路萎縮/変性 | 細い毛髪 | 背部痛 | 脂肪酸代謝の異常 | 脊髄の異常 | 脊髄萎縮 | 膀胱括約筋機能障害 | 行動異常 | 記憶障害 | 認知障害 | 進行性痙性対不全麻痺 | 遠位下肢筋虚弱 | 遠位感覚障害 | 遺尿 | 遺糞症" ] }, { "id": "NANDO:2100026", "label_en": "Atrophic kidney (excluding urinary tract malformation)", "label_ja": "萎縮腎（尿路奇形が原因のものを除く。）", "yomigana": "いしゅくじん（にょうろきけいがげんいんのものをのぞく。）", "url": "http://nanbyodata.jp/ontology/NANDO_2100026", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200535", "label_en": "Fructose-1,6-bisphosphatase deficiency", "label_ja": "フルクトース-1,6-ビスホスファターゼ欠損症", "yomigana": "ふるくとーす1,6びすほすふぁたーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200535", "notificationNumber": "70", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Apnea | Apneic episodes in infancy | Autosomal recessive inheritance | Coma | Diarrhea | Drowsiness | Dyspnea | Elevated circulating hepatic transaminase concentration | Episodic tachypnea | Excessive daytime somnolence | Fasting hypoglycemia | Fever | Hepatic steatosis | Hepatomegaly | Hyperalaninemia | Hyperuricemia | Hyperventilation | Hypoglycemia | Hypotonia | Intellectual disability | Intermittent hyperventilation | Intermittent lactic acidemia | Irritability | Ketosis | Lactic acidosis | Lethargy | Metabolic acidosis | Neonatal hyperbilirubinemia | Neonatal hypoglycemia | Neonatal onset | Pallor | Reduced consciousness | Respiratory distress | Reye syndrome-like episodes | Seizure | Tachycardia | Ventriculomegaly | Vomiting" ], "symptoms_ja_list": [ "Reye 症様エピソード | ケトン症 | 下痢 | 乳児期の無呼吸エピソード | 乳酸性アシドーシス | 代謝性アシドーシス | 低血糖 | 呼吸困難 | 呼吸窮迫 | 嗜眠 | 嘔吐 | 多呼吸エピソード | 多換気 | 常染色体潜性遺伝 | 意識減少/混乱 | 新生児低血糖 | 新生児高ビリルビン血症 | 昏睡 | 無呼吸 | 無気力 | 発作 | 発熱 | 眠気 | 知的障害 | 空腹時低血糖 | 筋緊張低下 | 肝トランスアミナーゼ上昇 | 肝腫 | 脂肪肝 | 脳室拡大 | 蒼白 | 被刺激性 | 間歇的乳酸性酸血症 | 間歇的過換気 | 頻拍 | 高アラニン血症 | 高尿酸血症 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2100102", "label_en": "Arteriovenous fistulae", "label_ja": "動静脈瘻", "yomigana": "どうじょうみゃくろう", "url": "http://nanbyodata.jp/ontology/NANDO_2100102", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100017", "label_en": "Renal vein thrombosis", "label_ja": "腎静脈血栓症", "yomigana": "じんじょうみゃくけっせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100017", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100238", "label_en": "Spinocerebellar degeneration", "label_ja": "脊髄小脳変性症", "yomigana": "せきずいしょうのうへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100238", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200020", "label_en": "Myasthenia gravis", "label_ja": "重症筋無力症", "yomigana": "じゅうしょうきんむりょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200020", "notificationNumber": "11", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal thymus morphology | Abnormality of the endocrine system | Abnormality of the immune system | Acrocyanosis | Autoimmunity | Bulbar palsy | Difficulty climbing stairs | Diplopia | Dysarthria | Dysphagia | Dysphonia | Dyspnea | Facial palsy | Fatigable weakness | Fatigue | Glycosuria | Hashimoto thyroiditis | Hearing impairment | Hemolytic anemia | Hepatitis | Hyperacusis | Hypernasal speech | Hyperthyroidism | Impaired mastication | Limb muscle weakness | Muscle weakness | Myositis | Non-Mendelian inheritance | Ophthalmoparesis | Paresthesia | Primary adrenal insufficiency | Proximal muscle weakness | Psychosis | Ptosis | Pure red cell aplasia | Respiratory failure | Rheumatoid arthritis | Seizure | Skeletal muscle atrophy | Systemic lupus erythematosus | Thymoma | Thymus hyperplasia | Tongue atrophy" ], "symptoms_ja_list": [ "免疫系の異常 | 全身性紅斑性狼瘡 | 内分泌系異常 | 原発性副腎不全 | 呼吸不全 | 呼吸困難 | 咀嚼こんな | 嚥下障害 | 四肢筋虚弱 | 多因子遺伝 | 尿糖 | 感覚異常 | 構音障害 | 橋本甲状腺炎 | 溶血性貧血 | 球麻痺 | 甲状腺機能亢進症 | 疲労 | 疲労性虚弱 | 発作 | 発音障害 | 眼瞼下垂 | 眼筋不全麻痺 | 筋炎 | 筋萎縮 | 筋虚弱 | 精神病 | 純粋赤血球無形成 | 聴覚過敏 | 肝炎 | 肢端チアノーゼ | 胸腺の異常 | 胸腺腫 | 胸腺過形成 | 自己免疫 | 舌萎縮 | 複視 | 近位筋虚弱 | 関節リウマチ | 階段の登り困難 | 難聴 | 顔面麻痺 | 鼻声発語" ] }, { "id": "NANDO:2201274", "label_en": "β-thalassemia", "label_ja": "β - サラセミア", "yomigana": "べーたさらせみあ", "url": "http://nanbyodata.jp/ontology/NANDO_2201274", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [ "Abnormal hemoglobin | Abnormal skull morphology | Abnormality of iron homeostasis | Abnormality of temperature regulation | Abnormality of the skeletal system | Anemia | Cholelithiasis | Hepatitis | Hepatomegaly | Hypertrophic cardiomyopathy | Hypogonadotropic hypogonadism | Irritability | Microcytic anemia | Muscle weakness | Pallor | Reduced bone mineral density | Respiratory insufficiency | Skin ulcer | Splenomegaly | Thrombocytopenia | Venous thrombosis" ], "symptoms_ja_list": [ "ヘモグロビン異常 | 低ゴナドトロピン性性腺機能低下症 | 体温調節の異常 | 呼吸不全 | 小球性貧血 | 皮膚潰瘍 | 筋虚弱 | 肝炎 | 肝腫 | 肥大型心筋症 | 胆石症 | 脾腫 | 蒼白 | 血小板減少 | 被刺激性 | 貧血 | 鉄ホメオスターシスの異常 | 静脈血栓症 | 頭蓋骨の異常 | 骨ミネラル濃度減少 | 骨格の異常" ] }, { "id": "NANDO:2200299", "label_en": "Chronic cor pulmonale", "label_ja": "慢性肺性心", "yomigana": "まんせいはいせいしん", "url": "http://nanbyodata.jp/ontology/NANDO_2200299", "notificationNumber": "95", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100104", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200728", "label_en": "obsolete Moderate mesangial proliferative glomerulonephritis", "label_ja": "obsolete 中等度メサンギウム細胞増殖性糸球体腎炎", "yomigana": "ちゅうとうどめさんぎうむさいぼうぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200728", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200899", "label_en": "Subacute sclerosing panencephalitis", "label_ja": "亜急性硬化性全脳炎", "yomigana": "あきゅうせいこうかせいぜんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200899", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100245", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal brain choline/creatine ratio by MRS | Abnormality of extrapyramidal motor function | Akinetic mutism | Ataxia | Atypical behavior | Autosomal recessive inheritance | Brain atrophy | CSF pleocytosis | Chorioretinitis | Delusion | Dementia | Depression | Dyskinesia | Dystonia | EEG with periodic complexes | Gait disturbance | Hallucinations | Infectious encephalitis | Irritability | Lethargy | Loss of speech | Mental deterioration | Myoclonus | Papilledema | Reduced brain N-acetyl aspartate level by MRS | Retinal hemorrhage | Seizure | Sleep disturbance | Spasticity | Ventriculomegaly | Visual loss" ], "symptoms_ja_list": [ "Dementia | MRSによる異常な脳コリン/クレアチン比 | MRSによる脳 N-acetyl aspartate 値現象 | うつ | ジスキネジア | ジストニア | ミオクローヌス | 乳頭浮腫 | 周期性複合を伴う脳波 | 妄想 | 常染色体潜性遺伝 | 幻覚 | 歩行障害 | 無動性無言症 | 無気力 | 異常な自律神経生理 | 痙性 | 発作 | 発語喪失 | 睡眠障害 | 知能悪化 | 網膜出血 | 脈絡膜網膜炎 | 脳室拡大 | 脳炎 | 脳萎縮 | 行動異常 | 被刺激性 | 視力喪失 | 運動失調 | 錐体外路運動機能の異常 | 髄液細胞増症" ] }, { "id": "NANDO:2200592", "label_en": "Hereditary folate malabsorption", "label_ja": "先天性葉酸吸収不全症", "yomigana": "せんてんせいようさんきゅうしゅうふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200592", "notificationNumber": "73", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100169", "symptoms_en_list": [ "Abnormality of movement | Abnormality of the immune system | Anorexia | Ataxia | Athetosis | Atypical behavior | Autosomal recessive inheritance | Basal ganglia calcification | Cerebral calcification | Cheilitis | Decreased circulating folate concentration | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total neutrophil count | Diarrhea | Dyskinesia | Failure to thrive | Feeding difficulties in infancy | Folate-responsive megaloblastic anemia | Gastroesophageal reflux | Generalized hypotonia | Global developmental delay | Glossitis | Hyperreflexia | Hypotonia | Immunodeficiency | Increased total eosinophil count | Infantile onset | Intellectual disability | Irritability | Malabsorption | Megaloblastic anemia | Nausea and vomiting | Oral ulcer | Pallor | Pancytopenia | Peripheral neuropathy | Recurrent infections | Recurrent respiratory infections | Recurrent urinary tract infections | Seizure | Skeletal muscle atrophy | Thrombocytopenia" ], "symptoms_ja_list": [ "アテトーゼ | ジスキネジア | 下痢 | 低ガンマグロブリン血症 | 免疫不全 | 免疫系の異常 | 全般性発達遅滞 | 全身性筋緊張低下 | 反射亢進 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性感染症 | 口唇炎 | 口腔潰瘍 | 吐気と 嘔吐 | 吸収障害 | 基底核石灰化 | 大脳石灰化 | 好中球減少症 | 好酸球増多症 | 巨赤芽球性貧血 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 末梢神経ニューロパチー | 汎血球減少症 | 発作 | 白血球減少症 | 知的障害 | 筋緊張低下 | 筋萎縮 | 胃食道逆流 | 舌炎 | 葉酸反応性巨赤芽球性貧血 | 葉酸欠乏症 | 蒼白 | 血小板減少 | 行動異常 | 被刺激性 | 運動の異常 | 運動失調 | 食思不振 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200210", "label_en": "obsoleteAL amyloidosis; Transthyretin-related senile systemic amyloidosis", "label_ja": "obsolete免疫グロブリン性アミロイドーシス;老人性トランスサイレチン型（TTR）アミロイドーシス;反応性AAアミロイドーシス", "yomigana": "めんえきぐろぶりんせいあみろいどーしす;ろうじんせいとらんすさいれちんがた（てぃーてぃーあーる）あみろいどーしす;はんのうせいえーえーあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200210", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200581", "label_en": "Mitochondrial Hsp60 chaperonopathy", "label_ja": "HSP60シャペロン病", "yomigana": "えいちえすぴー60しゃぺろんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200581", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Apnea | Autosomal recessive inheritance | Babinski sign | Choreoathetosis | Ethylmalonic aciduria | Feeding difficulties in infancy | Flexion contracture | Global developmental delay | Head titubation | Hyperreflexia | Hypotonia | Increased circulating lactate concentration | Leukodystrophy | Neonatal onset | Nystagmus | Poor head control | Profound intellectual disability | Progressive spasticity | Secondary microcephaly | Seizure | Spastic paraplegia | Strabismus" ], "symptoms_ja_list": [ "Babinski サイン | エチルマロン酸尿 | ロイコジストロフィー | 全般性発達遅滞 | 反射亢進 | 屈曲拘縮 | 常染色体潜性遺伝 | 手揺動 | 斜視 | 無呼吸 | 生後の小頭 | 痙性対麻痺 | 発作 | 眼振 | 知的障害", "最重度 | 筋緊張低下 | 舞踏病アテトーゼ | 血清乳酸増加 | 進行性痙性 | 頸定不全 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:2200635", "label_en": "Hemoglobin C disease", "label_ja": "ヘモグロビンC症", "yomigana": "へもぐろびんしーしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200635", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200864", "label_en": "Typical familial Mediterranean fever", "label_ja": "家族性地中海熱典型例", "yomigana": "かぞくせいちちゅうかいねつてんけいれい", "url": "http://nanbyodata.jp/ontology/NANDO_1200864", "notificationNumber": "266", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Amyloid deposition | Arthralgia | Arthritis | Autosomal recessive inheritance | Chest pain | Childhood onset | Chronic constipation | Crohn's disease | Diarrhea | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Episodic abdominal pain | Erysipelas | Headache | Hepatomegaly | Increased total leukocyte count | Increased total neutrophil count | Infantile onset | Juvenile onset | Meningitis | Myalgia | Nephrotic syndrome | Orchitis | Pericarditis | Peritonitis | Pleural effusion | Pleuritis | Recurrent fever | Renal amyloidosis | Splenomegaly | Stage 5 chronic kidney disease | Vomiting | Young adult onset" ], "symptoms_ja_list": [ "CRP 上昇 | Crohn 病 | アミロイドーシス | ステージ5慢性腎疾患 | ネフローゼ症候群 | 下痢 | 丹毒 | 共通 | 嘔吐 | 好中球増多症 | 常染色体潜性遺伝 | 心外膜炎 | 慢性便秘 | 発熱エピソード | 白血球増多症 | 筋痛 | 精巣炎 | 肝腫 | 胸膜滲出液 | 胸膜炎 | 脾腫 | 腎アミロイド症 | 腹痛 | 腹痛エピソード | 腹膜炎 | 赤沈値上昇 | 関節炎 | 関節痛 | 頭痛 | 髄膜炎" ] }, { "id": "NANDO:2201137", "label_en": "Infantile-onset carnitine-acylcarnitine translocase deficiency", "label_ja": "乳児期発症型カルニチンアシルカルニチントランスロカーゼ欠損症", "yomigana": "にゅうじきはっしょうがたかるにちんあしるかるにちんとらんすろかーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201137", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200355", "label_en": "Leukocyte adhesion deficiency", "label_ja": "白血球接着不全症", "yomigana": "はっけっきゅうせっちゃくふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200355", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal bleeding | Abnormal neutrophil physiology | Abnormality of the dentition | Acute myeloid leukemia | Autism | Bone marrow hypocellularity | Bronchiectasis | Cerebral atrophy | Coarse facial features | Conjunctivitis | Coronal craniosynostosis | Gingivitis | Glomerulonephritis | Growth delay | Hemolytic-uremic syndrome | Hyperinsulinemic hypoglycemia | Impaired platelet aggregation | Increased total leukocyte count | Intellectual disability | Intrauterine growth retardation | Lymphocytic interstitial pneumonia | Meningitis | Microcephaly | Nail dystrophy | Osteomyelitis | Otitis media | Perianal abscess | Peritonitis | Pneumonia | Polycythemia | Recurrent aphthous stomatitis | Recurrent bacterial infections | Recurrent fungal infections | Recurrent oral thrush | Recurrent skin infections | Recurrent staphylococcal infections | Recurrent tonsillitis | Recurrent urinary tract infections | Respiratory tract infection | Seizure | Sepsis | Severe periodontitis | Short stature | Sinusitis | Thrombocytosis" ], "symptoms_ja_list": [ "リンパ性間質性肺炎 | 中耳炎 | 低身長 | 冠状縫合早期癒合 | 副鼻腔炎 | 反復性アフタ性口内炎 | 反復性カビ感染症 | 反復性ブドウ球菌感染症 | 反復性尿路感染症 | 反復性皮膚感染症 | 反復性細菌感染症 | 呼吸器感染 | 多血症 | 大脳萎縮 | 好中球生理の異常 | 子宮内成長遅滞 | 小頭 | 急性骨髄性白血病 | 慢性口腔カンジダ症 | 成長遅滞 | 扁桃炎 | 敗血症 | 歯の異常 | 歯肉炎 | 気管支拡張 | 溶血性尿毒症候群症候群 | 爪ジストロフィー | 異常な出血 | 発作 | 白血球増多症 | 知的障害 | 粗な顔貌 | 糸球体腎炎 | 結膜炎 | 肛門周囲膿瘍 | 肺炎 | 腹膜炎 | 自閉症 | 血小板凝集障害 | 血小板増多症 | 重度の歯周炎 | 骨髄炎 | 骨髄細胞数増多 | 髄膜炎 | 高インスリン血症性低血糖" ] }, { "id": "NANDO:2200852", "label_en": "Cavernous angioma of the brain and spinal cord", "label_ja": "海綿状血管腫（脳脊髄）", "yomigana": "かいめんじょうけっかんしゅ（のうせきずい）", "url": "http://nanbyodata.jp/ontology/NANDO_2200852", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100230", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201450", "label_en": "Type 3 total anomalous pulmonary venous connection", "label_ja": "総肺静脈還流異常症III型", "yomigana": "そうはいじょうみゃくかんりゅういじょうしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201450", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100088", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200205", "label_en": "Progressive multifocal leukoencephalopathy", "label_ja": "進行性多巣性白質脳症", "yomigana": "しんこうせいたそうせいはくしつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200205", "notificationNumber": "25", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal astrocyte morphology | Abnormal cerebrospinal fluid morphology | Abnormal oligodendroglia morphology | Abnormal speech pattern | Abnormality of the nervous system | Aphasia | CNS demyelination | Cognitive impairment | Decreased total CD8+ T cell proportion | Diplopia | Dysarthria | Dysmetria | Functional motor deficit | Gait ataxia | Headache | Hematological neoplasm | Hemiplegia/hemiparesis | Immunodeficiency | Limb muscle weakness | Meningitis | Mental deterioration | Nystagmus | Oculomotor nerve palsy | Paresthesia | Parkinsonism | Personality changes | Seizure | Somatic sensory dysfunction | Vertigo | Visual field defect | Visual impairment | Weakness due to upper motor neuron dysfunction" ], "symptoms_ja_list": [ "CD8+ T 細胞数の減少 | オリゴデンドログリア(希突起神経膠細胞)の異常 | パーキンソン症候群 | 中枢神経脱髄 | 主要運動路病変による麻痺 | 免疫不全 | 四肢筋虚弱 | 失語症 | 性格変化 | 感覚異常 | 感覚障害 | 星状細胞の異常 | 構音障害 | 機能的筋異常 | 歩行失調 | 測定障害 | 片麻痺/片側不全麻痺 | 発作 | 眩暈 | 眼振 | 眼球運動神経麻痺 | 知能悪化 | 神経学的発語障害 | 神経系の異常 | 血液学的新生物 | 複視 | 視力障害 | 視野障害 | 認知障害 | 頭痛 | 髄液の異常 | 髄膜炎" ] }, { "id": "NANDO:1200974", "label_en": "Trifunctional protein deficiency", "label_ja": "三頭酵素欠損症", "yomigana": "さんとうこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200974", "notificationNumber": "317", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Areflexia | Arrhythmia | Babinski sign | Cardiomyopathy | Cholestasis | Chronic hepatic failure | Coma | Congestive heart failure | Decreased patellar reflex | Difficulty climbing stairs | Diffuse hepatic steatosis | Distal peripheral sensory neuropathy | Equinovarus deformity | Equinus calcaneus | Exercise intolerance | Failure to thrive in infancy | Feeding difficulties in infancy | Frequent falls | Generalized muscle weakness | Hypocalcemia | Hypoketotic hypoglycemia | Hypoparathyroidism | Hypotonia | Left ventricular hypertrophy | Lethargy | Lower limb muscle weakness | Mitral regurgitation | Motor delay | Muscle spasm | Muscle weakness | Myalgia | Peripheral neuropathy | Pes cavus | Pigmentary retinopathy | Poor suck | Primitive reflex | Progressive distal muscle weakness | Respiratory failure | Respiratory insufficiency | Rhabdomyolysis | Seizure | Sensorimotor neuropathy | Skeletal myopathy | Tricuspid regurgitation" ], "symptoms_ja_list": [ "Babinski サイン | うっ血性心不全 | びまん性脂肪肝 | 三尖弁逆流 | 下肢筋虚弱 | 不整脈 | 乳児期の成長障害 (成長不全) | 低カルシウム血症 | 低ケトン性低血糖 | 僧帽弁逆流 | 全身性筋虚弱 | 内反尖足変形 | 凹足 | 副甲状腺機能低下症 | 原始反射 (掌頤", "口とがらせ", "眉間) | 吸啜不全 | 呼吸不全 | 左室肥大 | 心筋症 | 感覚運動ニューロパチー | 慢性肝不全 | 昏睡 | 末梢神経ニューロパチー | 横紋筋融解 | 無反射 | 無気力 | 発作 | 筋けいれん | 筋痛 | 筋緊張低下 | 筋虚弱 | 胆汁うっ滞 | 膝蓋腱反射減少 | 色素性網膜症 | 踵骨尖足 | 進行性遠位筋虚弱 | 運動不耐症 | 運動発達遅滞 | 遠位末梢感覚神経ニューロパチー | 階段の登り困難 | 頻回の転倒 | 食餌摂取障害 in infancy | 骨格筋ミオパチー" ] }, { "id": "NANDO:2200809", "label_en": "Acquired immune deficiency syndrome", "label_ja": "後天性免疫不全症候群", "yomigana": "こうてんせいめんえきふぜんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200809", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100212", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201132", "label_en": "juvnile dermatomyositis", "label_ja": "若年性皮膚筋炎", "yomigana": "じゃくねんせいひふきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201132", "notificationNumber": "50", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Alopecia | Angina pectoris | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Bundle branch block | Calcinosis | Cardiomyopathy | Constipation | Cough | Cutaneous photosensitivity | Dry skin | Dysarthria | Dysphagia | Dysphonia | Dyspnea | EMG abnormality | Elevated circulating C-reactive protein concentration | Elevated circulating creatine kinase activity | Elevated erythrocyte sedimentation rate | Erythema | Fatigue | Fever | Gastrointestinal hemorrhage | Hoarse voice | Hypotonia | Limitation of joint mobility | Mucosal telangiectasiae | Muscle spasm | Muscle weakness | Myalgia | Myositis | Palpebral edema | Pericarditis | Poikiloderma | Pruritus | Pulmonary fibrosis | Restrictive ventilatory defect | Skin rash | Skin ulcer | Telangiectasia of the skin | Vasculitis | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | 不整脈 | 乾いた皮膚 | 体重喪失 | 便秘 | 呼吸困難 | 嗄声 | 嚥下障害 | 外層 | 多形皮膚萎縮症 (ポイキロデルマ) | 心外膜炎 | 心筋症 | 拘束性肺疾患 | 掻痒 | 構音障害 | 狭心症 | 疲労 | 発熱 | 発音障害 | 皮膚光線過敏症 | 皮膚毛細血管拡張 | 皮膚潰瘍 | 皮膚発疹 | 眼瞼浮腫 | 石灰症 | 禿頭 | 筋けいれん | 筋炎 | 筋痛 | 筋緊張低下 | 筋虚弱 | 筋電図異常 | 粘膜の毛細血管拡張 | 紅斑 | 肺線維症 | 胃腸出血 | 脚ブロック | 腹痛 | 自己免疫 | 血清 creatine phosphokinase上昇 | 血管炎 | 赤沈値上昇 | 関節炎 | 関節痛 | 関節運動制限" ] }, { "id": "NANDO:1201048", "label_en": "Acquired factor X inhibitor", "label_ja": "自己免疫性後天性凝固第X因子欠乏症", "yomigana": "じこめんえきせいこうてんせいぎょうこだい10いんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201048", "notificationNumber": "288", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200753", "label_en": "X linked severe congenital neutropenia", "label_ja": "X連鎖好中球減少症", "yomigana": "えっくすれんさこうちゅうきゅうげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200753", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Congenital onset | Decreased total monocyte count | Decreased total neutrophil count | Eczematoid dermatitis | Recurrent bacterial infections | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | 単球減少症 | 反復性細菌感染症 | 好中球減少症 | 湿疹" ] }, { "id": "NANDO:2201280", "label_en": "p22phox-deficient chronic granulomatous disease", "label_ja": "p22phox欠損慢性肉芽腫症", "yomigana": "ぴー22ふぉっくすけっそんまんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201280", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Absence of bactericidal oxidative respiratory burst in phagocytes | Autosomal recessive inheritance | Cellulitis | Decreased activity of NADPH oxidase | Decreased neutrophil oxidative burst | Deficiency or absence of cytochrome b(-245) | Discoid lupus rash | Eczematoid dermatitis | Granulomatosis | Hepatomegaly | Immunodeficiency | Juvenile onset | Liver abscess | Lymphadenitis | Lymphadenopathy | Osteomyelitis | Rectal abscess | Recurrent Aspergillus infection | Recurrent Burkholderia cepacia infection | Recurrent Escherichia coli infection | Recurrent Klebsiella infection | Recurrent Serratia infection | Recurrent Staphylococcus aureus infection | Recurrent bacterial skin infections | Recurrent pneumonia | Splenomegaly" ], "symptoms_ja_list": [ "NADPH oxidase活性の減少 | nitroblue tetrazolium (NBT) 還元試験陰性 | チトクローム b(-245)の欠乏または欠損 | リンパ節炎 | リンパ節腫大 | 免疫不全 | 円板状紅斑性狼瘡 | 反復性アスペルギルス感染症 | 反復性クレブシエラ感染症 | 反復性セパシア菌感染症 | 反復性セラチア菌感染症 | 反復性大腸菌感染症 | 反復性細菌性皮膚感染症 | 反復性肺炎 | 反復性黄色ブドウ球菌感染症 | 常染色体潜性遺伝 | 湿疹 | 直腸膿瘍 | 肉芽腫症 | 肝腫 | 肝膿瘍 | 脾腫 | 蜂巣織炎 | 貪食細胞での殺菌的酸化 '呼吸バースト' の欠損 | 骨髄炎" ] }, { "id": "NANDO:2200166", "label_en": "Throacic kidney", "label_ja": "胸部腎", "yomigana": "きょうぶじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200166", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201385", "label_en": "Galloway-Mowat syndrome", "label_ja": "ギャロウェイ・モワト症候群", "yomigana": "ぎゃろうぇい・もわとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201385", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [ "Abnormal intervertebral disk morphology | Abnormality of immune system physiology | Abnormality of neuronal migration | Abnormality of the dentition | Adducted thumb | Aqueductal stenosis | Camptodactyly of finger | Cognitive impairment | EEG abnormality | Global developmental delay | Hemiplegia/hemiparesis | Hiatus hernia | Hypertelorism | Hypertonia | Hypoplasia of the ear cartilage | Hypotelorism | Hypotonia | Intrauterine growth retardation | Macrotia | Microcephaly | Micrognathia | Nephropathy | Nephrotic syndrome | Pachygyria | Premature birth | Proteinuria | Seizure | Short stature" ], "symptoms_ja_list": [ "ニューロン移動の異常 | ネフローゼ症候群 | 両眼接近 | 両眼隔離 | 低身長 | 免疫系生理の異常 | 全般性発達遅滞 | 内転母指 | 大耳 | 子宮内成長遅滞 | 小頭 | 小顎 | 屈指 | 早産 | 椎間板の異常 | 歯の異常 | 水道狭窄 | 片麻痺/片側不全麻痺 | 発作 | 筋緊張亢進 | 筋緊張低下 | 耳軟骨低形成 | 脳回肥厚 | 脳波異常 | 腎症 | 蛋白尿 | 裂孔ヘルニア | 認知障害" ] }, { "id": "NANDO:2201533", "label_en": "secondary syringomyelia", "label_ja": "続発性脊髄空洞症", "yomigana": "ぞくはつせいせきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201533", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [ "Back pain | Blurred vision | Bulbar palsy | CNS demyelination | CSF pleocytosis | Cranial nerve paralysis | Distal sensory impairment of all modalities | Dysphonia | Dysuria | Facial paralysis | Fatigable weakness | Gait disturbance | Hypogeusia | Increased CSF protein concentration | Meningioma | Nystagmus | Paraplegia | Paresthesia | Paroxysmal vertigo | Progressive cerebellar ataxia | Pseudobulbar paralysis | Seizure | Sensory ataxia | Somatic sensory dysfunction | Syringomyelia" ], "symptoms_ja_list": [ "不全麻痺 | 中枢神経脱髄 | 偽性球麻痺 | 全感覚の遠位感覚障害 | 味覚減少 | 感覚失調 | 感覚異常 | 感覚障害 | 排尿障害 | 歩行障害 | 球麻痺 | 疲労性虚弱 | 発作 | 発作性眩暈 | 発音障害 | 眼振 | 背部痛 | 脊髄空洞症 | 脳神経麻痺 | 視力障害(霧視、かすみ目) | 進行性小脳失調 | 顔面麻痺 | 髄液タンパクの増加 | 髄液細胞増症 | 髄膜腫" ] }, { "id": "NANDO:2100043", "label_en": "Sick sinus syndrome", "label_ja": "洞不全症候群", "yomigana": "どうふぜんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100043", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201167", "label_en": "Neonatal type Ebstein’s anomaly", "label_ja": "新生児型エプスタイン病", "yomigana": "しんせいじがたえぷすたいんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201167", "notificationNumber": "217", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200534", "label_en": "UDP-galactose-4-epimerase deficiency", "label_ja": "ウリジル二リン酸ガラクトース-4-エピメラーゼ欠損症", "yomigana": "うりじるにりんさんがらくとーす4えぴめらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200534", "notificationNumber": "58", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Aminoaciduria | Autosomal recessive inheritance | Cataract | Childhood onset | Decreased beta-galactosidase activity | Delayed gross motor development | Delayed speech and language development | Failure to thrive | Feeding difficulties | Galactosuria | Generalized hypotonia | Global developmental delay | Growth delay | Hepatomegaly | Hypergalactosemia | Hypotonia | Impairment of galactose metabolism | Intellectual disability | Jaundice | Nausea and vomiting | Sensorineural hearing impairment | Splenomegaly | Vomiting | Weight loss" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | アミノ酸尿 | ガラクトース代謝障害 | ガラクトース尿 | 体重喪失 | 全般性発達遅滞 | 全身性筋緊張低下 | 吐気と 嘔吐 | 嘔吐 | 常染色体潜性遺伝 | 感音難聴 | 成長遅滞 | 成長障害 (成長不全) | 発語および言語発達遅延 | 白内障 | 知的障害 | 筋緊張低下 | 粗大運動発達遅延 | 肝腫 | 脾腫 | 食餌摂取障害 | 高ガラクトース血症 | 黄疸" ] }, { "id": "NANDO:2200017", "label_en": "Acute undifferentiated leukemia", "label_ja": "急性未分化型白血病", "yomigana": "きゅうせいみぶんかがたはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200017", "notificationNumber": "85", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200976", "label_en": "Pfeiffer syndrome", "label_ja": "ファイファー症候群", "yomigana": "ふぁいふぁーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200976", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Autosomal dominant inheritance | Brachydactyly | Brachyturricephaly | Broad hallux | Broad thumb | Bronchomalacia | Chiari malformation | Choanal atresia | Choanal stenosis | Clinodactyly of the 5th finger | Cloverleaf skull | Coronal craniosynostosis | Dental crowding | Depressed nasal bridge | Downslanted palpebral fissures | Elbow ankylosis | Facial asymmetry | Finger syndactyly | Flat face | High forehead | High palate | Hip dysplasia | Humeroradial synostosis | Hydrocephalus | Hyperlordosis | Hypertelorism | Hypoplasia of the maxilla | Hypoplasia of the zygomatic bone | Intellectual disability | Mandibular prognathia | Open mouth | Ptosis | Shallow orbits | Short middle phalanx of toe | Short neck | Short nose | Short philtrum | Short stature | Shortening of all middle phalanges of the fingers | Strabismus | Syndactyly | Synostosis of carpal bones | Tracheal cartilaginous sleeve | Turricephaly | Wide nasal bridge | obsolete Symphalangism affecting the phalanges of the hand" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | クローバー型頭蓋骨 | 上腕骨橈骨癒合 | 上顎低形成 | 下顎突出 | 両眼隔離 | 低身長 | 冠状縫合早期癒合 | 前弯 | 合指症 | 合指趾症 | 塔状頭 | 常染色体顕性遺伝 | 幅広い母指 | 幅広い母趾 | 幅広い鼻梁 | 平坦な顔 | 後鼻孔狭窄 | 後鼻孔閉鎖 | 手根骨癒合症 | 指の全中節骨の短縮 | 指骨の指関節癒合症 | 斜視 | 歯混雑 | 気管支軟化症 | 水頭症 | 浅い眼窩 | 眼瞼下垂 | 眼瞼裂斜下 | 知的障害 | 短い人中 | 短い趾中節骨 | 短い頸部 | 短い鼻 | 短塔状頭 | 短指症候群 | 第5指弯指 | 肘強直 | 股関節異形成 | 落ちくぼんだ鼻梁 | 軟骨性気管 | 開口 | 頬骨未発達 | 顔面非対称 | 高い額 | 高口蓋" ] }, { "id": "NANDO:1200216", "label_en": "Distal myopathy", "label_ja": "遠位型ミオパチー", "yomigana": "えんいがたみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200216", "notificationNumber": "30", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200829", "label_en": "von Hippel-Lindau disease", "label_ja": "フォンヒッペル・リンドウ病", "yomigana": "ふぉんひっぺる・りんどうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200829", "notificationNumber": "30", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100220", "symptoms_en_list": [ "Abdominal pain | Abnormal left ventricular function | Abnormality of the eye | Adrenal pheochromocytoma | Anxiety | Arrhythmia | Autosomal dominant inheritance | Back pain | Cardiomyopathy | Cerebellar hemangioblastoma | Distal lower limb muscle weakness | Elevated circulating catecholamine level | Elevated urinary catecholamine level | Headache | Hyperhidrosis | Hypertension | Hypertensive retinopathy | Increased intracranial pressure | Limb pain | Multiple renal cysts | Myocardial infarction | Myocarditis | Neoplasm of the pancreas | Pallor | Palpitations | Pancreatic cysts | Pancreatic islet cell adenoma | Papillary cystadenoma of the epididymis | Papilledema | Paraganglioma | Pheochromocytoma | Polycythemia | Pulmonary capillary hemangiomatosis | Renal cell carcinoma | Retinal capillary hemangioma | Retinal detachment | Sensorineural hearing impairment | Spinal hemangioblastoma | Stroke | Tinnitus | Upper limb muscle weakness | Vertigo | Visual loss | Young adult onset" ], "symptoms_ja_list": [ "上肢筋虚弱 | 不安 | 不整脈 | 乳頭浮腫 | 傍神経節腫 | 副腎褐色細胞腫 | 動悸 | 卒中 | 四肢痛 | 多汗 | 多発性腎嚢胞 | 多血症 | 小脳血管芽腫 | 尿中カテコラミン上昇 | 左室機能障害 | 常染色体顕性遺伝 | 循環性カテコラミン値上昇 | 心筋梗塞 | 心筋炎 | 心筋症 | 感音難聴 | 眩暈 | 眼の異常 | 精巣上体乳頭腺腫 | 網膜剥離 | 網膜血管芽腫 | 耳鳴 | 肺毛細血管血管腫症 | 背部痛 | 脊椎血管芽腫 | 腎細胞癌 | 腹痛 | 膵新生物 | 膵膿瘍 | 膵頭部細胞腺腫 | 蒼白 | 褐色細胞腫 | 視力喪失 | 遠位下肢筋虚弱 | 頭痛 | 頭蓋内圧の増加 | 高血圧 | 高血圧性網膜症" ] }, { "id": "NANDO:2200789", "label_en": "Properdin deficiency", "label_ja": "Properdin 欠損症", "yomigana": "ぷろぱーじん けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200789", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Dysfunctional alternative complement pathway | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | 代謝/ホメオスターシスの異常 | 副補体経路機能障害" ] }, { "id": "NANDO:1200357", "label_en": "Chronic granulomatous disease", "label_ja": "慢性肉芽腫症", "yomigana": "まんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200357", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormality of neutrophils | Chronic pulmonary obstruction | Cutaneous photosensitivity | Eczematoid dermatitis | Fever | Gingivitis | Hepatomegaly | Hypermelanotic macule | Inflammatory abnormality of the eye | Liver abscess | Macule | Malabsorption | Mediastinal lymphadenopathy | Meningitis | Otitis media | Pyloric stenosis | Recurrent respiratory infections | Sepsis | Sinusitis | Skin ulcer | Splenomegaly | Tracheoesophageal fistula" ], "symptoms_ja_list": [ "メラニン増加性斑 | 中耳炎 | 副鼻腔炎 | 反復性呼吸器感染症 | 吸収障害 | 好中球の異常 | 幽門狭窄 | 慢性閉塞性肺疾患 | 敗血症 | 斑 | 歯肉炎 | 気管食道瘻 | 湿疹 | 発熱 | 皮膚光線過敏症 | 皮膚潰瘍 | 眼の炎症性異常 | 縦隔リンパ節腫大 | 肝腫 | 肝膿瘍 | 脾腫 | 髄膜炎" ] }, { "id": "NANDO:2201061", "label_en": "Unclassifiable Juvenile idiopathic arthritis", "label_ja": "若年性特発性関節炎（分類不能関節炎）", "yomigana": "じゃくねんせいとくはつせいかんせつえん（ぶんるいふのうかんせつえん）", "url": "http://nanbyodata.jp/ontology/NANDO_2201061", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200627", "label_en": "Glucose-6-phosphate dehydrogenase deficiency", "label_ja": "グルコース-6-リン酸脱水素酵素欠乏症", "yomigana": "ぐるこーす6りんさんだっすいそこうそけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200627", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200337", "label_en": "Other acquired hypothyroidism", "label_ja": "21及び22に掲げるもののほか、後天性甲状腺機能低下症", "yomigana": "21および22にかかげるもののほか、こうてんせいこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200337", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200737", "label_en": "obsolete Lobular membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 分葉型膜性増殖性糸球体腎炎", "yomigana": "ぶんようがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200737", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201198", "label_en": "GM1 gangliosidosis, adult form", "label_ja": "成人型GM1-ガングリオシドーシス", "yomigana": "せいじんがたじーえむ1がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201198", "notificationNumber": "118", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Anterior beaking of lumbar vertebrae | Ataxia | Autosomal recessive inheritance | Cherry red spot of the macula | Childhood onset | Coarse facial features | Decreased beta-galactosidase activity | Delayed speech and language development | Diffuse cerebral atrophy | Dysarthria | Dystonia | Flared iliac wing | Foam cells | Hepatomegaly | Hyperreflexia | Hypoplastic acetabulae | Kyphosis | Mild intellectual disability | Myoclonus | Opacification of the corneal stroma | Pes cavus | Platyspondyly | Scoliosis | Seizure | Short stature | Skeletal muscle atrophy | Slurred speech | Splenomegaly | Ventriculomegaly" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | びまん性大脳萎縮 | ジストニア | ミオクローヌス | 不明瞭言語 | 低身長 | 側弯 | 凹足 | 反射亢進 | 寛骨臼低形成 | 常染色体潜性遺伝 | 後弯 | 扁平脊椎 | 構音障害 | 泡沫細胞 | 発作 | 発語および言語発達遅延 | 知的障害", "軽度 | 筋萎縮 | 粗な顔貌 | 肝腫 | 脳室拡大 | 脾腫 | 腰椎のくちばし状前方突出 | 腸骨翼フレア | 角膜間質混濁形成 | 運動失調 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2200109", "label_en": "Other tumours of the central nervous system", "label_ja": "70から90までに掲げるもののほか、中枢神経系腫瘍", "yomigana": "70から90までにかかげるもののほか、ちゅうすうしんけいけいしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200109", "notificationNumber": "69", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100240", "label_en": "Dystonia musculorum deformans", "label_ja": "変形性筋ジストニー", "yomigana": "へんけいせいきんじすとにー", "url": "http://nanbyodata.jp/ontology/NANDO_2100240", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100222", "label_en": "Leukoencephalopathy caused by genetic abnormalities", "label_ja": "遺伝子異常による白質脳症", "yomigana": "いでんしいじょうによるはくしつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100222", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200393", "label_en": "Disorders of sex development of 46,XX", "label_ja": "46,XX性分化疾患", "yomigana": "46,えっくすえっくすせいぶんかしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200393", "notificationNumber": "52", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100140", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200370", "label_en": "Congenital lipoid adrenal hyperplasia", "label_ja": "リポイド副腎過形成症", "yomigana": "りぽいどふくじんかけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200370", "notificationNumber": "61", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100134", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200026", "label_en": "Pediatric follicular lymphoma", "label_ja": "小児濾胞性リンパ腫", "yomigana": "しょうにろほうせいりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200026", "notificationNumber": "91", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201135", "label_en": "Presymptomatic carnitine-acylcarnitine translocase deficiency", "label_ja": "発症前型カルニチンアシルカルニチントランスロカーゼ欠損症", "yomigana": "はっしょうまえがたかるにちんあしるかるにちんとらんすろかーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201135", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200092", "label_en": "Type 6 Farber disease", "label_ja": "サンドホフ病合併型ファーバー病", "yomigana": "さんどほふびょうがっぺいがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200092", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201209", "label_en": "Adult-onset Niemann-Pick disease type C", "label_ja": "成人型ニーマン・ピック病C型", "yomigana": "せいじんがたにーまん・ぴっくびょうしーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201209", "notificationNumber": "122", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200260", "label_en": "obsolete Large-vessel giant cell arteritis", "label_ja": "obsolete 巨細胞性動脈炎（頭蓋領域の動脈に限局せず大動脈・総頸動脈・鎖骨下動脈などにも分布）", "yomigana": "きょさいぼうせいどうみゃくえん（ずがいりょういきのどうみゃくにげんきょくせずだいどうみゃく・そうけいどうみゃく・さこつかどうみゃくなどにもぶんぷ）", "url": "http://nanbyodata.jp/ontology/NANDO_1200260", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200766", "label_en": "HOIL-1 deficiency", "label_ja": "HOIL1欠損症", "yomigana": "えいちおーあいえる1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200766", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Abdominal pain | Anemia | Autosomal recessive inheritance | Cardiomyopathy | Cholestasis | Chronic diarrhea | Congestive heart failure | Dilated cardiomyopathy | Eczematoid dermatitis | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Erythroderma | Failure to thrive | Growth delay | Hematochezia | Hepatic fibrosis | Hepatomegaly | Hypoproteinemia | Immunodeficiency | Increased total leukocyte count | Infantile onset | Inflammation of the large intestine | Lymphadenitis | Lymphadenopathy | Metabolic acidosis | Muscle weakness | Myalgia | Nail dystrophy | Neonatal onset | Progressive | Proximal muscle weakness | Ptosis | Recurrent bacterial infections | Recurrent fever | Scoliosis | Seizure | Skeletal muscle atrophy | Splenomegaly | Thin skin | Vesicoureteral reflux" ], "symptoms_ja_list": [ "うっ血性心不全 | リンパ節炎 | リンパ節腫大 | 代謝性アシドーシス | 低タンパク血症 | 側弯 | 免疫不全 | 反復性細菌感染症 | 大腸の炎症 | 常染色体潜性遺伝 | 心筋症 | 慢性下痢 | 成長遅滞 | 成長障害 (成長不全) | 拡張型心筋症 | 湿疹 | 爪ジストロフィー | 発作 | 発熱エピソード | 白血球増多症 | 眼瞼下垂 | 筋痛 | 筋萎縮 | 筋虚弱 | 紅皮症 | 肝トランスアミナーゼ上昇 | 肝線維症 | 肝腫 | 胆汁うっ滞 | 脾腫 | 腹痛 | 膀胱尿管逆流 | 薄い皮膚 | 血便排泄 | 血清 creatine phosphokinase上昇 | 貧血 | 近位筋虚弱" ] }, { "id": "NANDO:2200896", "label_en": "Aicardi-Goutieres syndrome 4a", "label_ja": "RNASEH2A欠損症", "yomigana": "あーるえぬえーえすいーえいち2えーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200896", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100244", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200325", "label_en": "Adipsic hypernatremia", "label_ja": "口渇中枢障害を伴う高ナトリウム血症", "yomigana": "こうかつちゅうすうしょうがいをともなうこうなとりうむけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200325", "notificationNumber": "73", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100117", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200467", "label_en": "Muckle-Wells syndrome", "label_ja": "マックル・ウェルズ症候群", "yomigana": "まっくる・うぇるずしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200467", "notificationNumber": "106", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal palate morphology | Abnormality of metabolism/homeostasis | Abnormality of the genital system | Abnormality of the nose | Abnormality of the voice | Anemia | Arthralgia | Arthritis | Autosomal dominant inheritance | Broad foot | Camptodactyly of finger | Childhood onset | Chronic fatigue | Clubbing of fingers | Conjunctivitis | Cranial nerve paralysis | Delayed puberty | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Episcleritis | Fever | Glaucoma | Headache | Hearing impairment | Hepatomegaly | Hernia of the abdominal wall | Ichthyosis | Increased intracranial pressure | Increased total leukocyte count | Infantile onset | Juvenile onset | Macrocephaly | Myalgia | Nephropathy | Nephrotic syndrome | Optic atrophy | Papilledema | Pes cavus | Polyarticular arthritis | Progressive sensorineural hearing impairment | Recurrent aphthous stomatitis | Recurrent fever | Renal amyloidosis | Renal insufficiency | Restrictive ventilatory defect | Short stature | Skin rash | Splenomegaly | Urticaria | Uveitis | Vasculitis" ], "symptoms_ja_list": [ "CRP 上昇 | ばち指 | ネフローゼ症候群 | ブドウ膜炎 | 上強膜炎 | 乳頭浮腫 | 代謝/ホメオスターシスの異常 | 低身長 | 凹足 | 反復性アフタ性口内炎 | 口蓋の異常 | 声の異常 | 多関節関節炎 | 大頭 | 屈指 | 常染色体顕性遺伝 | 幅広い足 | 思春期遅発 | 性器異常 | 慢性疲労 | 拘束性肺疾患 | 発熱 | 発熱エピソード | 白血球増多症 | 皮膚発疹 | 筋痛 | 結膜炎 | 緑内障 | 肝腫 | 脳神経麻痺 | 脾腫 | 腎アミロイド症 | 腎不全 | 腎症 | 腹壁ヘルニア | 腹痛 | 蕁麻疹 | 血管炎 | 視神経萎縮 | 貧血 | 赤沈値上昇 | 進行性感音難聴 | 関節炎 | 関節痛 | 難聴 | 頭痛 | 頭蓋内圧の増加 | 魚鱗癬 | 鼻の異常" ] }, { "id": "NANDO:2200598", "label_en": "Gamma-amino butyrate aminotransferase deficiency", "label_ja": "GABAアミノ基転移酵素欠損症", "yomigana": "ぎゃばあみのきてんいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200598", "notificationNumber": "50", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100170", "symptoms_en_list": [ "Abnormal corpus callosum morphology | Agenesis of corpus callosum | Autosomal recessive inheritance | Cerebellar atrophy | Cerebellar hypoplasia | Cerebral atrophy | Cerebral dysmyelination | Choreoathetosis | Death in childhood | Downslanted palpebral fissures | EEG abnormality | EEG with burst suppression | Elevated circulating growth hormone concentration | Epileptic encephalopathy | Excessive daytime somnolence | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Global developmental delay | Hyperreflexia | Hypotonia | Lethargy | Leukodystrophy | Neonatal onset | Posterior fossa cyst | Progressive psychomotor deterioration | Retrognathia | Seizure | Severe global developmental delay | Tall stature" ], "symptoms_ja_list": [ "てんかん性脳症 | ロイコジストロフィー | 下顎後退 | 全般性発達遅滞 | 反射亢進 | 嗜眠 | 大脳萎縮 | 大脳髄鞘形成異常症 | 小脳低形成 | 小脳萎縮 | 常染色体潜性遺伝 | 後頭窩嚢胞 | 成長ホルモン過剰症 | 成長障害 (成長不全) | 無気力 | 発作 | 眼瞼裂斜下 | 筋緊張低下 | 群発‐抑制交代を伴う脳波 | 脳梁の異常 | 脳梁無発生 of | 脳波異常 | 舞踏病アテトーゼ | 進行性精神運動発達悪化 | 重度の全般性発達遅滞 | 食餌摂取障害 | 食餌摂取障害 in infancy | 高身長" ] }, { "id": "NANDO:2201344", "label_en": "Other epidermolysis bullosa", "label_ja": "表皮水疱症（その他）", "yomigana": "ひょうひすいほうしょう（そのた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201344", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200656", "label_en": "Hypophosphatasia", "label_ja": "低ホスファターゼ症", "yomigana": "ていほすふぁたーぜしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200656", "notificationNumber": "172", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal metaphysis morphology | Abnormal rib morphology | Abnormality of the dentition | Anemia | Bowing of the long bones | Craniosynostosis | Emphysema | Failure to thrive in infancy | Feeding difficulties in infancy | Hypercalcemia | Hypotonia | Irritability | Large fontanelles | Narrow chest | Recurrent fractures | Respiratory insufficiency | Seizure | Short stature | Skin dimple | Skin dimple over apex of long bone angulation" ], "symptoms_ja_list": [ "乳児期の成長障害 (成長不全) | 低身長 | 反復性骨折 | 呼吸不全 | 大きな泉門 | 歯の異常 | 狭い胸郭 | 発作 | 皮膚小孔 | 筋緊張低下 | 肋骨の異常 | 肺気腫 | 被刺激性 | 貧血 | 長管骨湾曲 | 長管骨角部先端上の皮膚小孔 | 頭蓋合骨症 | 食餌摂取障害 in infancy | 骨幹端の異常 | 高カルシウム血症" ] }, { "id": "NANDO:1200254", "label_en": "Type II b Takayasu arteritis", "label_ja": "高安動脈炎（IIb型）", "yomigana": "たかやすどうみゃくえん（2びーがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200254", "notificationNumber": "40", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200259", "label_en": "obsolete Cranial giant cell arteritis", "label_ja": "obsolete 巨細胞性動脈炎（側頭動脈・顎動脈・眼動脈などの頭蓋領域の動脈に限局）", "yomigana": "きょさいぼうせいどうみゃくえん（そくとうどうみゃく・がくどうみゃく・がんどうみゃくなどのずがいりょういきのどうみゃくにげんきょく）", "url": "http://nanbyodata.jp/ontology/NANDO_1200259", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100117", "label_en": "Diabetes insipidus", "label_ja": "尿崩症", "yomigana": "にょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100117", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200330", "label_en": "Ectoic thyroid", "label_ja": "異所性甲状腺", "yomigana": "いしょせいこうじょうせん", "url": "http://nanbyodata.jp/ontology/NANDO_2200330", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [ "Abdominal distention | Abnormality of the face | Abnormality of the thyroid gland | Coarse facial features | Constipation | Dry skin | Dysphagia | Dysphonia | Ectopic thyroid | Elevated circulating thyroid-stimulating hormone concentration | Excessive daytime somnolence | Fatigue | Global developmental delay | Growth delay | Hoarse voice | Hypothyroidism | Hypotonia | Jaundice | Large fontanelles | Lingual thyroid | Macroglossia | Muscle weakness | Severe intellectual disability | Short stature | Umbilical hernia" ], "symptoms_ja_list": [ "乾いた皮膚 | 低身長 | 便秘 | 全般性発達遅滞 | 嗄声 | 嗜眠 | 嚥下障害 | 大きな泉門 | 巨舌 | 成長遅滞 | 甲状腺刺激ホルモン過剰症 | 甲状腺機能低下症 | 甲状腺異常 | 異所性甲状腺 | 疲労 | 発音障害 | 知的障害", "重度 | 筋緊張低下 | 筋虚弱 | 粗な顔貌 | 腹部膨満 | 臍ヘルニア | 舌甲状腺 | 顔の異常 | 黄疸" ] }, { "id": "NANDO:1201051", "label_en": "Oral-facial-digital syndrome", "label_ja": "口-顔-指症候群", "yomigana": "くち-かお-ゆびしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201051", "notificationNumber": "177", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200081", "label_en": "Adult metachromatic leukodystrophy", "label_ja": "成人型異染性白質ジストロフィー", "yomigana": "せいじんがたいせんせいはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200081", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal distention | Abnormal glycosphingolipid metabolism | Abnormal social behavior | Abnormality of metabolism/homeostasis | Abnormality of visual evoked potentials | Babinski sign | Bilateral sensorineural hearing impairment | Bowel incontinence | Bulbar signs | Cholecystitis | Chorea | Clumsiness | Decreased nerve conduction velocity | Delusion | Dementia | Depression | Developmental regression | Dysarthria | Dystonia | EMG: chronic denervation signs | Emotional lability | Frequent falls | Gait disturbance | Generalized hypotonia | Hallucinations | Hyporeflexia | Increased CSF protein concentration | Intention tremor | Leukodystrophy | Loss of speech | Memory impairment | Muscle weakness | Neoplasm of the gallbladder | Optic atrophy | Orthostatic hypotension due to autonomic dysfunction | Progressive gait ataxia | Progressive peripheral neuropathy | Progressive psychomotor deterioration | Progressive spastic quadriplegia | Reduced visual acuity | Schizophrenia | Seizure | Short attention span | Spasticity | Urinary incontinence" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | うつ | グリコスフィンゴリピド 代謝の異常 | ジストニア | ロイコジストロフィー | 不器用 | 両側性感音難聴 | 中心視力減少 | 代謝/ホメオスターシスの異常 | 企図振戦 | 全身性筋緊張低下 | 反射低下 | 妄想 | 幻覚 | 情動不安定 | 構音障害 | 歩行障害 | 球症状 | 異常な社会的行動 | 痙性 | 発作 | 発語喪失 | 発達退行 | 短い注意期間 | 神経活動電位の振幅減少 | 筋虚弱 | 筋電図: 慢性変性サイン | 統合失調症 | 胆嚢新生物 | 胆嚢炎 | 腹部膨満 | 自律神経性機能障害による起立性低血圧 | 舞踏病 | 視神経萎縮 | 視覚誘発電位の異常 | 記憶障害 | 進行性末梢神経ニューロパチー | 進行性歩行失調 | 進行性痙性四肢麻痺 | 進行性精神運動発達悪化 | 遺尿 | 遺糞症 | 頻回の転倒 | 髄液タンパクの増加" ] }, { "id": "NANDO:2100012", "label_en": "Chronic pyelonephritis", "label_ja": "慢性腎盂腎炎", "yomigana": "まんせいじんうじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100012", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200504", "label_en": "Alkaptonuria", "label_ja": "アルカプトン尿症", "yomigana": "あるかぷとんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200504", "notificationNumber": "94", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormal heart valve morphology | Abnormal nail morphology | Abnormal skin pigmentation | Abnormality of the nose | Abnormality of vision | Adult onset | Aminoaciduria | Amyloid deposition | Aortic aneurysm | Aortic valve calcification | Aortic valve stenosis | Arthralgia | Arthritis | Arthropathy | Atherosclerosis | Autosomal recessive inheritance | Back pain | Black pigment gallstones | Calcification of cartilage | Cartilage destruction | Coronary artery calcification | Decreased glomerular filtration rate | Glaucoma | Growth abnormality | Hearing abnormality | Hemolytic anemia | Hypertension | Hypothyroidism | Increased susceptibility to fractures | Infantile onset | Intervertebral disk calcification | Intervertebral disk degeneration | Irregular hyperpigmentation | Joint dislocation | Joint stiffness | Joint swelling | Kidney stone | Kyphosis | Limitation of knee mobility | Limited hip movement | Limited shoulder movement | Low back pain | Methemoglobinemia | Mitral regurgitation | Mitral stenosis | Mitral valve calcification | Myocardial infarction | Ocular hypertension | Osteoarthritis | Pigmentation of the sclera | Prostatitis | Reduced bone mineral density | Scoliosis | Tendon rupture | Thickened Achilles tendon | Vertebral fusion" ], "symptoms_ja_list": [ "アキレス腱肥厚 | アミノ酸尿 | アミロイドーシス | メトヘモグロビン血症 | 下背部痛 | 不規則な高色素 | 側弯 | 僧帽弁狭窄 | 僧帽弁石灰化 | 僧帽弁逆流 | 冠状動脈石灰化 | 前立腺炎 | 動脈硬化症 | 大動脈弁狭窄 | 大動脈弁石灰化 | 大動脈瘤 | 常染色体潜性遺伝 | 強膜色素沈着 | 後弯 | 心弁の異常 | 心筋梗塞 | 成長異常 | 易骨折性の増加 | 椎間板変性 | 椎間板石灰化 | 溶血性貧血 | 爪の異常 | 甲状腺機能低下症 | 皮膚色素の異常 | 眼内圧の増加 | 糸球体濾過率減少 | 緑内障 | 聴覚異常 | 股関節運動制限 | 肩運動制限 | 背部痛 | 脊椎骨癒合 | 腎結石 | 腱破裂 | 膝運動制限 | 視覚の異常 | 軟骨石灰化 | 軟骨破壊 | 関節拘縮 | 関節炎 | 関節症 | 関節痛 | 関節脱臼 | 関節腫脹 | 骨ミネラル濃度減少 | 骨関節炎 | 高血圧 | 黒色色素胆石 | 鼻の異常" ] }, { "id": "NANDO:1200166", "label_en": "Childhood cerebral adrenoleukodystrophy", "label_ja": "小児大脳型副腎白質ジストロフィー", "yomigana": "しょうにだいのうがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200166", "notificationNumber": "20", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [ "Abnormal brainstem white matter morphology | Abnormal circulating fatty acid concentration | Abnormal periventricular white matter morphology | Abnormal speech pattern | Abnormal spinal cord morphology | Ankle clonus | Apraxia | Astereognosis | Ataxia | Atypical behavior | Blindness | CNS demyelination | Confusion | Decreased circulating cortisol level | Diffuse demyelination of the cerebral white matter | Dysarthria | Dysmetria | Dysphagia | Facial myokymia | Functional motor deficit | Gait disturbance | Generalized hyperreflexia | Global brain atrophy | Hamstring contractures | Hearing impairment | Hemiparesis | Hyperactivity | Impaired visuospatial constructive cognition | Inability to walk | Lower limb spasticity | Male hypogonadism | Memory impairment | Mental deterioration | Myelopathy | Oculomotor apraxia | Peripheral axonal neuropathy | Peripheral neuropathy | Primary adrenal insufficiency | Reduced visual acuity | Seizure | Sensorimotor neuropathy | Short attention span | Spastic tetraparesis | Specific learning disability | Very long chain fatty acid accumulation" ], "symptoms_ja_list": [ "ハムストリング拘縮 | ミエロパチー | 下肢痙性 | 中心視力減少 | 中枢神経脱髄 | 全般性脳萎縮 | 全身性反射亢進 | 原発性副腎不全 | 嚥下障害 | 多動 | 大脳白質のびまん性脱髄 | 失行症 | 循環性コルチゾール値減少 | 感覚運動ニューロパチー | 末梢神経ニューロパチー | 末梢神経軸索ニューロパチー | 極長鎖脂肪酸蓄積 | 構音障害 | 機能的筋異常 | 歩行不能 | 歩行障害 | 測定障害 | 片側不全麻痺 | 特異的学習障害 | 男性性腺機能低下症 | 痙性四肢不全麻痺 | 発作 | 盲 | 眼球運動失行症 | 知能悪化 | 短い注意期間 | 神経学的発語障害 | 立体感覚失認症 | 脂肪酸代謝の異常 | 脊髄の異常 | 脳室周囲白質の異常 | 脳幹白質の異常 | 行動異常 | 視空間建設的認知の障害 | 記憶障害 | 足クローヌス | 運動失調 | 錯乱 | 難聴 | 顔面筋波動症 (ミオキミア)" ] }, { "id": "NANDO:1200266", "label_en": "Buerger's disease", "label_ja": "バージャー病", "yomigana": "ばーじゃーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200266", "notificationNumber": "47", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Acrocyanosis | Arterial thrombosis | Arthralgia | Autosomal recessive inheritance | Gangrene | Hyperhidrosis | Insomnia | Intermittent claudication | Limb pain | Pain | Paresthesia | Sensory neuropathy | Skin ulcer | Superficial thrombophlebitis | Vasculitis" ], "symptoms_ja_list": [ "不眠 | 動脈血栓症 | 四肢痛 | 壊疽 | 多汗 | 常染色体潜性遺伝 | 感覚ニューロパチー | 感覚異常 | 疼痛 | 皮膚潰瘍 | 肢端チアノーゼ | 血管炎 | 表在性血栓性静脈炎 | 間歇的跛行 | 関節痛" ] }, { "id": "NANDO:2100192", "label_en": "Cyclic thrombocytopenia", "label_ja": "周期性血小板減少症", "yomigana": "しゅうきせいけっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100192", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200985", "label_en": "Takenouchi-Kosaki syndrome", "label_ja": "武内・小崎症候群", "yomigana": "たけのうち・こさきしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200985", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiac septum morphology | Abnormal cerebral white matter morphology | Abnormal facial shape | Abnormal heart morphology | Abnormal periventricular white matter morphology | Abnormal sternum morphology | Abnormality of the endocrine system | Abnormality of the genitourinary system | Abnormality of the lymphatic system | Abnormality of the skeletal system | Absent speech | Ataxia | Atypical behavior | Autosomal dominant inheritance | Bulbous nose | Camptodactyly | Cerebellar atrophy | Cerebellar dysplasia | Cerebellar hypoplasia | Cerebral cortical atrophy | Cryptorchidism | Dandy-Walker malformation | Dental malocclusion | Downslanted palpebral fissures | Downturned corners of mouth | Eversion of lateral third of lower eyelids | Exotropia | Flared nostrils | Flexion contracture | Floppy infant | Generalized hypotonia | Global developmental delay | Hearing impairment | Highly arched eyebrow | Hydronephrosis | Hypertelorism | Hypoplasia of the corpus callosum | Hypospadias | Immunodeficiency | Increased mean platelet volume | Inguinal hernia | Intellectual disability | Long philtrum | Low-set ears | Lymphedema | Microcephaly | Midface retrusion | Narrow forehead | Nevus | Optic atrophy | Overlapping toe | Patent ductus arteriosus | Poor speech | Posteriorly rotated ears | Postnatal growth retardation | Progressive microcephaly | Prominent forehead | Proximal placement of thumb | Ptosis | Pulmonic stenosis | Recurrent infections | Reduced visual acuity | Scoliosis | Seizure | Sensorineural hearing impairment | Short philtrum | Smooth philtrum | Strabismus | Synophrys | Tapered finger | Tented upper lip vermilion | Thin upper lip vermilion | Thrombocytopenia | Total anomalous pulmonary venous return | Unilateral renal agenesis | Upslanted palpebral fissure | Ventriculomegaly | Webbed neck | Wide mouth | Wide nasal bridge | Widely spaced teeth" ], "symptoms_ja_list": [ "Dandy-Walker 奇形 | テント状上口唇唇紅部 | リンパ性浮腫 | リンパ系の異常 | 下眼瞼外側1/3の外反 | 不正咬合 | 両眼隔離 | 中心視力減少 | 乳児筋性筋緊張低下 | 停留精巣 | 側弯 | 先細りの指 | 免疫不全 | 全般性発達遅滞 | 全身性筋緊張低下 | 内分泌系異常 | 動脈管開存症 | 反復性感染症 | 口角下垂 | 外斜視 | 大脳白質の異常 | 大脳皮質萎縮 | 小脳低形成 | 小脳異形成 | 小脳萎縮 | 小頭 | 尿道下裂 | 屈指 | 屈曲拘縮 | 常染色体顕性遺伝 | 幅広い口 | 幅広い鼻梁 | 平均血小板容量増加 | 平坦な人中 | 心中隔 | 心形態の異常 | 感音難聴 | 斜視 | 歯間隔離 | 母斑 | 水腎症 | 泌尿生殖器異常 | 片側性腎無発生 | 狭い額 | 球状の鼻 | 生後の成長遅滞 | 異常な顔の形 | 発作 | 発語不全 | 発語欠損 | 目立つ額 | 眼瞼下垂 | 眼瞼裂斜上 | 眼瞼裂斜下 | 知的障害 | 短い人中 | 総肺静脈還流異常 | 翼状頚 | 耳介低位 | 耳介後方回転 | 肺動脈狭窄 | 胸骨の異常 | 脳室周囲白質の異常 | 脳室拡大 | 脳梁低形成 | 薄い上口唇唇紅部 | 血小板減少 | 行動異常 | 視神経萎縮 | 趾の重なり | 近位母指 | 連続眉毛 | 進行性小頭 | 運動失調 | 長い人中 | 難聴 | 顔面中部後退 | 骨格の異常 | 高位の弓形眉毛 | 鼠径ヘルニア | 鼻孔フレア" ] }, { "id": "NANDO:2201068", "label_en": "familial cold autoinflammatory syndrome", "label_ja": "家族性寒冷自己炎症症候群", "yomigana": "かぞくせいかんれいじこえんしょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201068", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abdominal pain | Arthralgia | Arthritis | Conjunctivitis | Dehydration | Dysesthesia | Erythema | Fatigue | Fever | Headache | Hyperhidrosis | Myalgia | Nausea and vomiting | Polydipsia | Pruritus | Sensorineural hearing impairment | Urticaria" ], "symptoms_ja_list": [ "吐気と 嘔吐 | 多汗 | 多飲 | 感覚異常 | 感音難聴 | 掻痒 | 疲労 | 発熱 | 筋痛 | 紅斑 | 結膜炎 | 脱水 | 腹痛 | 蕁麻疹 | 関節炎 | 関節痛 | 頭痛" ] }, { "id": "NANDO:1200732", "label_en": "obsolete Chronic diffuse non-lobular glomerulonephritis type I", "label_ja": "obsolete 非分葉型慢性・びまん型膜性増殖性糸球体腎炎", "yomigana": "ひぶんようがたまんせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200732", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100290", "label_en": "Stevens-Johnson syndrome", "label_ja": "スティーヴンス・ジョンソン症候群", "yomigana": "すてぃーぶんす・じょんそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100290", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200767", "label_en": "Sterol carrier protein 2 deficiency", "label_ja": "ステロールキャリアプロテインX欠損症", "yomigana": "すてろーるきゃりあぷろていんえっくすけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200767", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Autosomal recessive inheritance | Azoospermia | Decreased motor nerve conduction velocity | Dystonia | Focal T2 hyperintense thalamic lesion | Head tremor | Hearing impairment | Hypergonadotropic hypogonadism | Hyposmia | Impaired vibratory sensation | Intention tremor | Juvenile onset | Leukoencephalopathy | Peripheral neuropathy | Slow saccadic eye movements | Torticollis" ], "symptoms_ja_list": [ "ジストニア | 企図振戦 | 嗅覚減退 | 巣状 T2 高輝度視床病変 | 常染色体潜性遺伝 | 振動覚障害 | 斜頚 | 末梢神経ニューロパチー | 無精子症 | 白質脳症 | 緩徐なサッカード性眼球運動 | 運動神経活動電位の振幅減少 | 難聴 | 頭振戦 | 高ゴナドトロピン性性腺機能低下症" ] }, { "id": "NANDO:2201316", "label_en": "Crouzon disease (squamosal synostosis)", "label_ja": "クルーゾン病（鱗状縫合）", "yomigana": "くるーぞんびょう（りんじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201316", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201062", "label_en": "obsolete Familial amyloid polyneuropathy type 3", "label_ja": "obsolete 家族性アミロイドニューロパチーIII型", "yomigana": "かぞくせいあみろいどにゅーろぱちー3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201062", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200173", "label_en": "Medullary sponge kidney", "label_ja": "髄質海綿腎", "yomigana": "ずいしつかいめんじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200173", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Distal renal tubular acidosis | Hematuria | Hemihypertrophy | Hypercalciuria | Kidney stone" ], "symptoms_ja_list": [ "片側肥大 | 腎結石 | 血尿 | 遠位腎尿細管アシドーシス | 高カルシウム尿" ] }, { "id": "NANDO:2200119", "label_en": "obsolete Herlitz junctional epidermolysis bullosa", "label_ja": "obsolete ヘルリッツ型表皮水疱症", "yomigana": "へるりっつがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200119", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200538", "label_en": "obosolete Neurodegeneration with brain iron accumulation type 2B", "label_ja": "obsolete NBIA2b", "yomigana": "えぬびーあいえー2びー", "url": "http://nanbyodata.jp/ontology/NANDO_1200538", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201263", "label_en": "Acute intermittent porphyria", "label_ja": "急性間欠性ポルフィリン症", "yomigana": "きゅうせいかんけつせいぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201263", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100173", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormal circulating enzyme concentration or activity | Abnormal skin morphology | Acute episodes of neuropathic symptoms | Anxiety | Autosomal dominant inheritance | Back pain | Coma | Confusion | Constipation | Cranial nerve paralysis | Depression | Diarrhea | Distal muscle weakness | Dysuria | Elevated urinary delta-aminolevulinic acid | Excessive daytime somnolence | Fever | Hallucinations | Hepatocellular carcinoma | Hyperhidrosis | Hypertension | Hyponatremia | Ileus | Increased urinary porphobilinogen | Insomnia | Limb pain | Memory impairment | Mental deterioration | Motor axonal neuropathy | Motor polyneuropathy | Muscle weakness | Nausea | Nausea and vomiting | Paralysis | Paralytic ileus | Paranoia | Paresthesia | Peripheral neuropathy | Porphyrinuria | Proximal lower limb muscle weakness | Proximal upper limb muscle weakness | Pseudobulbar paralysis | Psychotic episodes | Renal insufficiency | Respiratory insufficiency | Respiratory paralysis | Restlessness | Seizure | Somatic sensory dysfunction | Tachycardia | Tremor | Urinary incontinence | Urinary retention | Vomiting | Weakness of muscles of respiration" ], "symptoms_ja_list": [ "うつ | イレウス | パラノイア | ポルフィリン尿 | 上肢の近位筋虚弱 | 下痢 | 下肢の近位筋虚弱 | 不安 | 不眠 | 不穏状態 | 低ナトリウム血症 | 便秘 | 偽性球麻痺 | 吐気 | 吐気と 嘔吐 | 呼吸不全 | 呼吸筋虚弱 | 呼吸麻痺 | 嗜眠 | 嘔吐 | 四肢痛 | 多汗 | 尿中δ-アミノレブリン酸上昇 | 尿中ポルホビリノーゲン増加 | 尿閉 | 常染色体顕性遺伝 | 幻覚 | 感覚異常 | 感覚障害 | 振戦 | 排尿障害 | 昏睡 | 末梢神経ニューロパチー | 発作 | 発熱 | 皮膚形態の異常 | 知能悪化 | 神経病症状の急性エピソード | 筋虚弱 | 精神病エピソード | 肝細胞癌 | 背部痛 | 脳神経麻痺 | 腎不全 | 腹痛 | 腹部膨満 | 記憶障害 | 運動性ポリニューロパチー | 運動性軸索ニューロパチー | 遠位筋虚弱 | 遺尿 | 錯乱 | 頻拍 | 高度/補酵素活性異常 | 高血圧 | 麻痺 | 麻痺性イレウス" ] }, { "id": "NANDO:1200479", "label_en": "Central core disease", "label_ja": "セントラルコア病", "yomigana": "せんとらるこあびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200479", "notificationNumber": "111", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Ankle flexion contracture | Autosomal dominant inheritance | Autosomal recessive inheritance | Bulbar signs | Centrally nucleated skeletal muscle fibers | Congenital hip dislocation | Easy fatigability | Elevated circulating creatine kinase activity | Feeding difficulties | Fetal akinesia sequence | Generalized muscle weakness | Hyporeflexia | Hypotonia | Increased variability in muscle fiber diameter | Infantile onset | Joint hypermobility | Kyphoscoliosis | Malignant hyperthermia | Mitral valve prolapse | Motor delay | Multiple joint contractures | Muscle stiffness | Muscle weakness | Myopathy | Nemaline bodies | Neonatal hypotonia | Neonatal onset | Neonatal respiratory distress | Ophthalmoplegia | Pelvic girdle muscle weakness | Pes planus | Respiratory insufficiency due to muscle weakness | Scoliosis | Skeletal muscle atrophy | Slowly progressive | Talipes | Talipes equinovarus | Type 1 muscle fiber predominance" ], "symptoms_ja_list": [ "1型筋線維有意 | ネマリン小体 | ミオパチー | 中央核骨格筋線維 | 側弯 | 僧帽弁逸脱 | 先天性股関節脱臼 | 全身性筋虚弱 | 内反尖足 | 反射低下 | 多発性関節拘縮 | 尖足 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 後側弯 | 悪性高体温症 | 扁平足 | 新生児呼吸窮迫 | 新生児筋緊張低下 | 易疲労性 | 球症状 | 眼筋麻痺 | 筋硬直 | 筋緊張低下 | 筋線維直径の多様性増加 | 筋萎縮 | 筋虚弱 | 筋虚弱による呼吸不全 | 胎児無動シークェンス | 血清 creatine phosphokinase上昇 | 足関節拘縮 | 運動発達遅滞 | 関節過動 | 食餌摂取障害 | 骨盤帯筋筋虚弱" ] }, { "id": "NANDO:2200671", "label_en": "Scott syndrome", "label_ja": "スコット症候群", "yomigana": "すこっとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200671", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [ "Abnormal bleeding | Autosomal recessive inheritance | Bruising susceptibility | Epistaxis | Factor X activation deficiency | Gingival bleeding | Menorrhagia | Post-partum hemorrhage | Prolonged bleeding after surgery | Prolonged prothrombin time" ], "symptoms_ja_list": [ "プロトロンビン時間遷延 | 出血傾向 | 常染色体潜性遺伝 | 月経痛 | 歯肉出血 | 産後出血 | 異常な出血 | 第 X 活性化欠乏症 | 術後の遷延性出血 | 鼻出血" ] }, { "id": "NANDO:2100094", "label_en": "Pulmonary arteriostenosis", "label_ja": "肺動脈狭窄症", "yomigana": "はいどうみゃくきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100094", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200882", "label_en": "spinocerebellar degeneration", "label_ja": "脊髄小脳変性症", "yomigana": "せきずいしょうのうへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200882", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100238", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201346", "label_en": "Hypochondrogenesis ", "label_ja": "軟骨低発生症", "yomigana": "なんこつていはっせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201346", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Acromesomelia | Aplasia of the middle phalanges of the toes | Aplasia/Hypoplasia involving the metacarpal bones | Aplasia/Hypoplasia of metatarsal bones | Aplasia/Hypoplasia of the patella | Aplasia/Hypoplasia of the thumb | Autosomal recessive inheritance | Bowing of the long bones | Brachydactyly | Congenital onset | Death in infancy | Disproportionate short-limb short stature | Fibular hypoplasia | Flexion contracture | Hypoplasia of the radius | Hypoplasia of the ulna | Intellectual disability | Joint stiffness | Micromelia | Pes valgus | Postaxial hand polydactyly | Sarcoma | Short digit | Short femur | Short foot | Short humerus | Short phalanx of finger | Short tibia | Short toe | Skeletal dysplasia | Stillbirth | Synostosis of carpal bones | Tarsal synostosis | Valgus hand deformity" ], "symptoms_ja_list": [ "不均衡型短肢低身長 | 中手骨無形成/低形成 | 中足骨無形成/低形成 | 外反手 | 外反足 | 小肢症 | 尺骨低形成 | 屈曲拘縮 | 常染色体潜性遺伝 | 手根骨癒合症 | 橈骨低形成 | 母指無形成/低形成 | 知的障害 | 短い上腕骨 | 短い大腿骨 | 短い指趾 | 短い指骨 | 短い脛骨 | 短い足 | 短い趾 | 短指症候群 | 肉腫 | 肢端四肢中部短縮 | 腓骨低形成 | 膝蓋骨無形成/低形成 | 足根骨癒合症 | 趾の中節骨無形成 | 軸後性多指症 | 長管骨湾曲 | 関節拘縮 | 骨格異形成" ] }, { "id": "NANDO:1201111", "label_en": "Primary extrahepatic portal vein obstruction", "label_ja": "原発性肝外門脈閉塞症", "yomigana": "げんぱつせいかんがいもんみゃくへいそくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201111", "notificationNumber": "346", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200706", "label_en": "Tricuspid atresia", "label_ja": "三尖弁閉鎖症", "yomigana": "さんせんべんへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200706", "notificationNumber": "212", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Atrial septal defect | Coarctation of aorta | Cyanosis | Hypoplasia of right ventricle | Patent foramen ovale | Persistent left superior vena cava | Pulmonary artery atresia | Transposition of the great arteries | Tricuspid atresia | Ventricular septal defect" ], "symptoms_ja_list": [ "チアノーゼ | 三尖弁閉鎖 | 低形成 of right ventricle | 卵円孔開存 | 大動脈縮窄 | 大血管転位 | 心室中隔欠損 | 心房中隔欠損 | 持続性左上大静脈 | 肺動脈閉鎖" ] }, { "id": "NANDO:1200644", "label_en": "Marfan syndrome/Loeys-Dietz Syndrome", "label_ja": "マルファン症候群／ロイス・ディーツ症候群", "yomigana": "まるふぁんしょうこうぐん／ろいす・でぃーつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200644", "notificationNumber": "167", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal left ventricular function | Abnormal zygomatic bone morphology | Aortic aneurysm | Aortic dissection | Aortic regurgitation | Aortic root aneurysm | Aortic tortuosity | Arachnodactyly | Arterial dissection | Arthralgia/arthritis | Ascending tubular aorta aneurysm | Astigmatism | Attention deficit hyperactivity disorder | Autosomal dominant inheritance | Bicuspid aortic valve | Cachexia | Camptodactyly | Cataract | Chronic fatigue | Cleft palate | Congestive heart failure | Decreased muscle mass | Deeply set eye | Dental crowding | Dilatation of an abdominal artery | Disproportionate tall stature | Dolichocephaly | Downslanted palpebral fissures | Dural ectasia | Ectopia lentis | Emphysema | Equinus calcaneus | Esotropia | Exotropia | Flat cornea | Flexion contracture | Genu recurvatum | Glaucoma | Hammertoe | Hemoptysis | High palate | High", "narrow palate | Hypoplasia of the iris | Hypotonia | Incisional hernia | Increased axial length of the globe | Inguinal hernia | Insomnia | Joint hypermobility | Kyphoscoliosis | Kyphosis | Lens luxation | Lens subluxation | Limited elbow extension | Limited elbow movement | Long face | Malar flattening | Medial rotation of the medial malleolus | Meningocele | Metatarsus adductus | Micrognathia | Mitral annular calcification | Mitral regurgitation | Mitral valve calcification | Mitral valve prolapse | Myalgia | Myopia | Narrow face | Narrow foot | Narrow palate | Open bite | Osteopenia | Osteoporosis | Pectus carinatum | Pectus excavatum | Pes cavus | Pes planus | Pneumothorax | Premature osteoarthritis | Protrusio acetabuli | Pulmonary artery dilatation | Reduced bone mineral density | Reduced subcutaneous adipose tissue | Reduced upper to lower segment ratio | Retinal detachment | Retrognathia | Scoliosis | Skeletal muscle atrophy | Sleep apnea | Sleep disturbance | Slender build | Spondylolisthesis | Spontaneous pneumothorax | Strabismus | Striae distensae | Talipes | Tall stature | Tricuspid regurgitation | Tricuspid valve prolapse | Ventricular tachycardia | Visual impairment" ], "symptoms_ja_list": [ "うっ血性心不全 | くも指 | はと胸 | 三尖弁逆流 | 三尖弁逸脱 | 上節/下節比の減少 | 上行大動脈拡張 | 下顎後退 | 不均衡型高身長 | 不眠 | 乱視 | 二弁性大動脈弁 | 伸展線 | 側弯 | 僧帽弁石灰化 | 僧帽弁逆流 | 僧帽弁逸脱 | 内斜視 | 内転中足骨 | 内顆の内方回転 | 凹足 | 動脈解離 | 反張膝 | 口蓋裂 | 喀血 | 外斜視 | 大動脈基部拡大 | 大動脈瘤 | 大動脈蛇行性 | 大動脈解離 | 大動脈逆流 | 寛骨臼突出 | 小顎 | 尖足 | 屈指 | 屈曲拘縮 | 左室機能障害 | 常染色体顕性遺伝 | 平坦な角膜 | 平坦な頬 | 後側弯 | 後弯 | 心室性 頻拍 | 悪液質 (カヘキシー) | 慢性疲労 | 扁平足 | 斜視 | 早発性僧帽弁輪部石灰化 | 早発性骨関節炎 | 槌趾 | 歯混雑 | 気胸 | 水晶体 亜脱臼 | 水晶体脱臼 | 注意力欠陥多動性疾患 | 漏斗胸 | 狭い口蓋 | 狭い足 | 狭い顔 | 異所性水晶体 | 瘢痕ヘルニア | 白内障 | 皮下脂肪組織減少 | 眼瞼裂斜下 | 睡眠時無呼吸 | 睡眠障害 | 硬膜拡張 | 筋痛 | 筋緊張低下 | 筋萎縮 | 筋量減少 | 細い体型 | 網膜剥離 | 緑内障 | 肘伸展制限 | 肘運動制限 | 肺動脈拡張 | 肺気腫 | 脊椎すべり症 | 腹大動脈瘤 | 自然気胸 | 落ちくぼんだ眼 | 虹彩低形成 | 視力障害 | 踵骨尖足 | 軸性眼球長増加 | 近視 | 長い顔 | 長頭 | 開放咬合 | 関節痛/関節炎 | 関節過動 | 顴骨の異常 | 骨ミネラル濃度減少 | 骨減少症 | 骨粗鬆症 | 髄膜瘤 | 高口蓋 | 高狭口蓋 | 高身長 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200169", "label_en": "Adult cerebral adrenoleukodystrophy", "label_ja": "成人大脳型副腎白質ジストロフィー", "yomigana": "せいじんだいのうがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200169", "notificationNumber": "20", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201020", "label_en": "Fibrodysplasia ossificans progressiva", "label_ja": "進行性骨化性線維異形成症", "yomigana": "しんこうせいこっかせいせんいいけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201020", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal femoral neck morphology | Abnormal hallux morphology | Abnormal thumb morphology | Abnormal vertebral morphology | Abnormality of the first metatarsal bone | Alopecia | Anemia | Aplasia/Hypoplasia of the phalanges of the hallux | Autosomal dominant inheritance | Basal ganglia calcification | Broad femoral neck | Clinodactyly of the 5th finger | Conductive hearing impairment | Congenital onset | Deep venous thrombosis | Delayed skeletal maturation | Ectopic ossification | Ectopic ossification in ligament tissue | Ectopic ossification in muscle tissue | Ectopic ossification in tendon tissue | Elevated circulating alkaline phosphatase concentration | Failure to thrive | Fused cervical vertebrae | Glaucoma | Hallux valgus | Hamartoma | Hearing impairment | Hip dysplasia | Increased susceptibility to fractures | Intellectual disability | Kidney stone | Limitation of joint mobility | Limitation of neck motion | Lymphedema | Metaphyseal widening | Mild intellectual disability | Progressive cervical vertebral spine fusion | Respiratory failure | Respiratory insufficiency | Scoliosis | Seizure | Sensorineural hearing impairment | Short 1st metacarpal | Short hallux | Small cervical vertebral bodies | Spinal rigidity | Subcutaneous nodule | Synostosis of joints | Widely spaced teeth" ], "symptoms_ja_list": [ "アルカリホスファターゼ上昇 | リンパ性浮腫 | 伝音難聴 | 側弯 | 呼吸不全 | 基底核石灰化 | 外反母趾 | 大腿骨頸部の異常 | 小さい頚椎椎体骨 | 常染色体顕性遺伝 | 幅広い大腿骨頸部 | 感音難聴 | 成長障害 (成長不全) | 易骨折性の増加 | 歯間隔離 | 母指の異常 | 母趾の異常 | 母趾趾骨無形成/低形成 | 深部静脈血栓症 | 異所性骨化 | 発作 | 皮下結節 | 知的障害 | 知的障害", "軽度 | 短い母趾 | 短い第1中手骨 | 禿頭 | 第1中足骨の異常 | 第5指弯指 | 筋組織の異所性骨化 | 緑内障 | 股関節異形成 | 脊椎の異常 | 脊椎強直 | 腎結石 | 腱組織の異所性骨化 | 貧血 | 進行性頚椎癒合 | 過誤腫 | 関節運動制限 | 関節骨癒合症 | 難聴 | 靭帯組織の異所性骨化 | 頚椎癒合 | 頸部運動制限 | 骨幹端拡大 | 骨格骨化遅延" ] }, { "id": "NANDO:2200637", "label_en": "Hypersplenism", "label_ja": "脾機能亢進症", "yomigana": "ひきのうこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200637", "notificationNumber": "52", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100184", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200648", "label_en": "Heparin-induced thrombocytopenia", "label_ja": "ヘパリン起因性血小板減少症", "yomigana": "へぱりんきいんせいけっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200648", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100188", "symptoms_en_list": [ "Arterial thrombosis | Autoimmune thrombocytopenia | Cerebral ischemia | Deep venous thrombosis | Disseminated intravascular coagulation | Hypercoagulability | Increased inflammatory response | Increased serum serotonin | Myocardial infarction | Pulmonary embolism | Stroke | Thromboembolism | Venous thrombosis" ], "symptoms_ja_list": [ "凝固促進 | 動脈血栓症 | 卒中 | 大脳虚血 | 心筋梗塞 | 播種性血管内凝固 | 深部静脈血栓症 | 炎症反応増加 | 肺塞栓症 | 自己免疫性血小板減少 | 血栓塞栓症 | 血清セロトニン増加 | 静脈血栓症" ] }, { "id": "NANDO:2200134", "label_en": "Lipoprotein glomerulopathy", "label_ja": "リポタンパク糸球体症", "yomigana": "りぽたんぱくしきゅうたいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200134", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [ "Glomerulopathy | Mesangial hypercellularity | Proteinuria | Renal insufficiency" ], "symptoms_ja_list": [ "メサンギウム増殖 | 糸球体症 | 腎不全 | 蛋白尿" ] }, { "id": "NANDO:2201021", "label_en": "Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders", "label_ja": "TRPV4異常症", "yomigana": "てぃあーるぴーぶい4いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201021", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201468", "label_en": "Primary Sjogren's syndrome", "label_ja": "一次性シェーグレン症候群", "yomigana": "いちじせいしぇーぐれんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201468", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [ "Abnormal cerebellum morphology | Abnormal pulmonary interstitial morphology | Abnormal spinal cord morphology | Abnormality of blood and blood-forming tissues | Abnormality of the kidney | Abnormality of the musculature | Abnormality of the nervous system | Abnormality of the skin | Airway obstruction | Anxiety | Arteritis | Arthralgia | Arthritis | Atypical behavior | Autoimmunity | Autosomal recessive inheritance | Biliary cirrhosis | Bronchitis | Chorea | Chronic active hepatitis | Chronic hepatitis | Chronic pain | Cognitive impairment | Corneal perforation | Cryoglobulinemia | Cutis marmorata | Decreased circulating complement C3 concentration | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total lymphocyte count | Dementia | Depression | Dry skin | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Enlargement of parotid gland | Erythema nodosum | Fatigue | Functional motor deficit | Glomerulonephritis | Increased circulating immunoglobulin concentration | Keratoconjunctivitis sicca | Lymphadenopathy | Lymphocytic interstitial pneumonia | Lymphoma | Lymphoproliferative disorder | Meningitis | Morphological central nervous system abnormality | Muscle weakness | Myalgia | Myositis | Normochromic anemia | Normocytic anemia | Optic neuritis | Parotitis | Peripheral neuropathy | Polyarticular arthropathy | Purpura | Reduced circulating complement concentration | Renal insufficiency | Rheumatoid arthritis | Rheumatoid factor positive | Seizure | Sensorimotor neuropathy | Skin rash | Skin ulcer | Somatic sensory dysfunction | Thrombocytopenia | Thyroiditis | Tubulointerstitial nephritis | Vasculitis | Vitiligo | Xerostomia" ], "symptoms_ja_list": [ "CRP 上昇 | Dementia | うつ | リウマチ因子陽性 | リオグロブリン血症 | リンパ増殖性疾患 | リンパ性間質性肺炎 | リンパ球減少症 | リンパ節腫大 | リンパ腫 | 不安 | 中枢神経の形態異常 | 乾いた皮膚 | 乾燥性 | 低ガンマグロブリン血症 | 動脈炎 | 口内乾燥症 | 多関節関節症 | 大理石皮膚 | 小脳の異常 | 尿細管間質性腎炎 | 常染色体潜性遺伝 | 性色素性貧血 | 感覚運動ニューロパチー | 感覚障害 | 慢性活動性肝炎 | 慢性疼痛 | 慢性肝炎 | 末梢神経ニューロパチー | 機能的筋異常 | 正球性貧血 | 気管支炎 | 甲状腺炎 | 疲労 | 発作 | 白斑 | 白血球減少症 | 皮膚の異常 | 皮膚潰瘍 | 皮膚発疹 | 神経系の異常 | 筋の異常 | 筋炎 | 筋痛 | 筋虚弱 | 糸球体腎炎 | 紫斑 | 結節性紅斑 | 耳下腺拡大 | 耳下腺炎 | 胆汁性肝硬変 | 脊髄の異常 | 腎不全 | 腎異常 | 自己免疫 | 舞踏病 | 血小板減少 | 血液および血液痙性組織の異常 | 血清補体 C3減少 | 血管炎 | 行動異常 | 補体欠乏症 | 視神経炎 | 角膜穿孔 | 認知障害 | 赤沈値上昇 | 閉塞性肺疾患 | 間質性肺疾患 | 関節リウマチ | 関節炎 | 関節痛 | 髄膜炎 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2200467", "label_en": "Phenylketonuria", "label_ja": "フェニルケトン尿症", "yomigana": "ふぇにるけとんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200467", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal cerebral white matter morphology | Aggressive behavior | Anxiety | Ataxia | Attention deficit hyperactivity disorder | Atypical behavior | Autosomal recessive inheritance | Blue irides | Cataract | Cerebral calcification | Cerebral visual impairment | Compulsive behaviors | Dementia | Depression | Dry skin | EEG abnormality | Eczematoid dermatitis | Encephalopathy | Fair hair | Generalized hypopigmentation | Global developmental delay | Growth delay | Hyperactivity | Hyperphenylalaninemia | Hyperreflexia | Hypopigmentation of the skin | Intellectual disability | Irritability | Lower limb spasticity | Maternal hyperphenylalaninemia | Microcephaly | Osteopenia | Phenylpyruvic acidemia | Pregnancy history | Psychosis | Reduced phenylalanine hydroxylase level | Scleroderma | Seizure | Self-mutilation | Severe intellectual disability | Short attention span | Specific learning disability | Tremor" ], "symptoms_ja_list": [ "Dementia | phenylalanine hydroxylase 活性減少 | うつ | フェニルピルビン酸酸血症 | 下肢痙性 | 不安 | 乾いた皮膚 | 全般性発達遅滞 | 全身性低色素 | 出生前の母体異常 | 反射亢進 | 多動 | 大脳白質の異常 | 大脳石灰化 | 小頭 | 常染色体潜性遺伝 | 強皮症 | 強迫性行動 | 循環器系の形態異常 | 成長遅滞 | 振戦 | 攻撃的行動 | 母体高フェニールアラニン結晶 | 注意力欠陥多動性疾患 | 湿疹 | 特異的学習障害 | 発作 | 白内障 | 皮膚低色素 | 皮質性視力障害 | 知的障害 | 知的障害", "重度 | 短い注意期間 | 精神病 | 脳波異常 | 脳症 | 自己切断 | 行動異常 | 被刺激性 | 運動失調 | 金髪 | 青色虹彩 | 骨減少症 | 高フェニールアラニン血症" ] }, { "id": "NANDO:2200421", "label_en": "Anti-phospholipid antibody syndrome", "label_ja": "抗リン脂質抗体症候群", "yomigana": "こうりんししつこうたいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200421", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200063", "label_en": "Niemann-Pick disease type C", "label_ja": "ニーマン・ピック病C型", "yomigana": "にーまん・ぴっくびょうしーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200063", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal CNS myelination | Abnormal lung morphology | Abnormal pyramidal sign | Abnormal social behavior | Abnormal speech pattern | Abnormality of mental function | Abnormality of movement | Abnormality of the liver | Aggressive behavior | Apathy | Aplasia/Hypoplasia of the abdominal wall musculature | Ascites | Aspiration pneumonia | Ataxia | Atypical behavior | Auditory hallucination | Axial dystonia | Bipolar affective disorder | Bone-marrow foam cells | Cataplexy | Cerebellar vermis atrophy | Cerebral atrophy | Chorea | Clumsiness | Cognitive impairment | Compulsive behaviors | Delayed speech and language development | Dementia | Demyelinating peripheral neuropathy | Depression | Developmental regression | Disinhibition | Dysarthria | Dysphagia | Dysphonia | Dystonia | Feeding difficulties | Fetal ascites | Foam cells | Focal-onset seizure | Frequent falls | Frontal cortical atrophy | Gait disturbance | Gastrostomy tube feeding in infancy | Generalized-onset seizure | Global developmental delay | Hearing impairment | Hepatic failure | Hepatomegaly | Hepatosplenomegaly | Hydrops fetalis | Hypoplasia of the corpus callosum | Hypotonia | Intellectual disability | Intention tremor | Jaundice | Leukodystrophy | Limb dystonia | Low cholesterol esterification rate | Low frustration tolerance | Lower limb spasticity | Mental deterioration | Myoclonus | Progressive gait ataxia | Progressive neurologic deterioration | Psychosis | Pulmonary infiltrates | Respiratory failure | Respiratory insufficiency | Schizophrenia | Seizure | Sleep disturbance | Specific learning disability | Speech apraxia | Splenomegaly | Status epilepticus | Tremor | Upper motor neuron dysfunction | Vertical supranuclear gaze palsy | Visual hallucination" ], "symptoms_ja_list": [ "Dementia | うつ | てんかん重積 | カタプレキシー | コレステロールエステル化率低下 | ジストニア | フラストレーション耐性低下 | ミオクローヌス | ロイコジストロフィー | 下肢痙性 | 不器用 | 乳児期の胃瘻管栄養 | 企図振戦 | 全般性発達遅滞 | 全身性発作 | 前頭葉皮質萎縮 | 双極性感情障害 | 呼吸不全 | 嚥下障害 | 四肢ジストニア | 垂直性核上性注視麻痺 | 大脳萎縮 | 小脳虫部萎縮 | 強迫性行動 | 振戦 | 攻撃的行動 | 構音障害 | 歩行障害 | 泡沫細胞 | 無関心", "感情鈍磨 | 焦点性発作 | 特異的学習障害 | 異常な中枢神経髄鞘形成 | 異常な社会的行動 | 発作 | 発語および言語発達遅延 | 発語失行症 | 発達退行 | 発音障害 | 皮質脊髄路機能障害 | 睡眠障害 | 知的障害 | 知能悪化 | 神経学的発語障害 | 筋緊張低下 | 精神病 | 統合失調症 | 聴覚幻覚 | 肝の異常 | 肝不全 | 肝脾腫 | 肝腫 | 肺の異常 | 肺浸潤 | 胎児水腫 | 胎児腹水 | 脱抑制 | 脱髄性末梢運動神経ニューロパチー | 脳梁低形成 | 脾腫 | 腹壁筋無形成/低形成 | 腹水 | 舞踏病 | 行動異常 | 視覚的幻覚 | 認知障害 | 誤嚥性肺炎 | 軸性ジストニア | 進行性歩行失調 | 進行性神経学的悪化 | 運動の異常 | 運動失調 | 錐体路運動機能の異常 | 難聴 | 頻回の転倒 | 食餌摂取障害 | 骨髄泡沫細胞 | 高次精神機能の異常 | 黄疸" ] }, { "id": "NANDO:1200310", "label_en": "Evans syndrome", "label_ja": "エヴァンズ症候群", "yomigana": "えばんずしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200310", "notificationNumber": "61", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Autoimmune hemolytic anemia | Autoimmune neutropenia | Autoimmune thrombocytopenia | Bruising susceptibility | Dyspnea | Epistaxis | Fatigue | Jaundice | Lethargy | Muscle weakness | Pallor | Petechiae | Syncope" ], "symptoms_ja_list": [ "出血傾向 | 呼吸困難 | 失心 | 点状出血 | 無気力 | 疲労 | 筋虚弱 | 自己免疫性好中球減少症 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 蒼白 | 黄疸 | 鼻出血" ] }, { "id": "NANDO:2200373", "label_en": "17 alpha-hydroxylase deficiency", "label_ja": "17α-水酸化酵素欠損症", "yomigana": "17あるふぁすいさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200373", "notificationNumber": "58", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100134", "symptoms_en_list": [ "Absence of pubertal development | Absence of secondary sex characteristics | Absent axillary hair | Absent pubic hair | Adrenal hyperplasia | Adrenocorticotropic hormone excess | Adrenogenital syndrome | Ambiguous genitalia | Ambiguous genitalia", "male | Aplasia of the uterus | Autosomal recessive inheritance | Bifid scrotum | Bilateral cryptorchidism | Congenital adrenal hyperplasia | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Decreased circulating renin concentration | Decreased fertility | Delayed puberty | Delayed skeletal maturation | Elevated circulating follicle stimulating hormone level | Elevated circulating luteinizing hormone level | Failure to thrive | Female external genitalia in individual with 46", "XY karyotype | Gynecomastia | Hypertension | Hypokalemia | Hypokalemic alkalosis | Hypospadias | Increased circulating gonadotropin level | Irregular menstruation | Male hypogonadism | Male infertility | Male pseudohermaphroditism | Micropenis | Muscle spasm | Ovarian cyst | Precocious puberty in females | Primary adrenal insufficiency | Primary amenorrhea" ], "symptoms_ja_list": [ "46", "XY核型での女性外性器 | ゴナドトロピン過剰症 | 両側性停留精巣 | 二分陰嚢 | 二次性徴欠損 | 低アルドステロン症 | 低カリウム血症 | 低カリウム血症性アルカロージス | 先天性副腎過形成 | 副腎性器症候群 | 副腎皮質刺激ホルモン過剰 | 副腎過形成 | 卵巣嚢胞 | 卵胞刺激ホルモン上昇 | 原発性副腎不全 | 原発性無月経 | 女性での思春期早発 | 女性型乳房 | 妊孕性減少 | 子宮無形成 | 小陰茎 | 尿道下裂 | 常染色体潜性遺伝 | 循環性コルチゾール値減少 | 循環性レニン値減少 | 思春期発達欠損 | 思春期遅発 | 性別不明の外性器 | 性別不明の外性器", "男性 | 恥毛欠損 | 成長障害 (成長不全) | 月経不純 | 男性不妊 | 男性仮性半陰陽 | 男性性腺機能低下症 | 筋けいれん | 腋毛欠損 | 骨格骨化遅延 | 高血圧 | 黄体形成ホルモン上昇" ] }, { "id": "NANDO:1200575", "label_en": "Congenital hypomyelinating leukodystrophy", "label_ja": "先天性大脳白質形成不全症", "yomigana": "せんてんせいだいのうはくしつけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200575", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201076", "label_en": "obsolete BH4 deficiency", "label_ja": "obsolete BH4欠損症", "yomigana": "びーえいち4けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201076", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201324", "label_en": "Purely ocular myasthenia gravis", "label_ja": "純粋眼筋型重症筋無力症", "yomigana": "じゅんすいがんきんがたじゅうしょうきんむりょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201324", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100252", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100226", "label_en": "Cerebral creatine deficiency syndromes", "label_ja": "脳クレアチン欠乏症候群", "yomigana": "のうくれあちんけつぼうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100226", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200893", "label_en": "Aicardi-Goutières Syndrome", "label_ja": "エカルディ・グティエール症候群", "yomigana": "えかるでぃ・ぐてぃえーるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200893", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100244", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormality of extrapyramidal motor function | Abnormality of eye movement | Acrocyanosis | Aortic aneurysm | Arrhinencephaly | Arthritis | Autoimmunity | Axial hypotonia | Brain atrophy | Calcification of the aorta | Cardiomegaly | Cerebral calcification | Chilblains | Chronic CSF lymphocytosis | Chronic lymphatic leukemia | Convex nasal ridge | Cutis marmorata | Demyelinating peripheral neuropathy | Developmental glaucoma | Developmental regression | Diabetes mellitus | Dry skin | Dystonia | Elevated circulating hepatic transaminase concentration | Extrapyramidal muscular rigidity | Eyelid coloboma | Gait disturbance | Glaucoma | Global developmental delay | Headache | Hemiplegia/hemiparesis | Hepatosplenomegaly | Hoarse voice | Hypertonia | Hypertrophic cardiomyopathy | Hypoplasia of the corpus callosum | Hypothyroidism | Increased CSF interferon alpha | Irritability | Leukodystrophy | Lipoatrophy | Loss of speech | Low-set ears | Microcephaly | Micropenis | Moyamoya phenomenon | Multifocal cerebral white matter abnormalities | Multiple joint contractures | Muscle stiffness | Myositis | Neonatal alloimmune thrombocytopenia | Nystagmus | Panniculitis | Plagiocephaly | Porencephalic cyst | Profound intellectual disability | Prolonged neonatal jaundice | Ptosis | Scoliosis | Seizure | Short stature | Spastic paraparesis | Spastic tetraplegia | Spasticity | Tremor | Unexplained fevers | Ventriculomegaly" ], "symptoms_ja_list": [ "もやもや現象 | ジストニア | ロイコジストロフィー | 不明熱 | 乾いた皮膚 | 低身長 | 体幹の筋緊張低下 | 側弯 | 先天性緑内障 | 全般性発達遅滞 | 凍瘡病変 | 凸の鼻梁 | 嗄声 | 多巣性大脳白質異常 | 多発性関節拘縮 | 大動脈瘤 | 大動脈石灰化 | 大理石皮膚 | 大脳石灰化 | 孔脳症 | 小陰茎 | 小頭 | 心拡大 | 慢性リンパ性白血病 | 慢性髄液細胞増多症 | 振戦 | 斜頭 | 新生児同種免疫性血小板減少 | 歩行障害 | 無嗅脳症 | 片麻痺/片側不全麻痺 | 甲状腺機能低下症 | 痙性 | 痙性四肢麻痺 | 痙性対不全麻痺 | 発作 | 発語喪失 | 発達退行 | 眼振 | 眼瞼下垂 | 眼瞼裂 | 眼運動の異常 | 知的障害", "最重度 | 筋炎 | 筋硬直 | 筋緊張亢進 | 糖尿病 | 緑内障 | 耳介低位 | 肝トランスアミナーゼ上昇 | 肝脾腫 | 肢端チアノーゼ | 肥大型心筋症 | 脂肪織炎 | 脂肪萎縮 | 脱髄性末梢運動神経ニューロパチー | 脳室拡大 | 脳梁低形成 | 脳萎縮 | 自己免疫 | 被刺激性 | 遷延性新生児黄疸 | 錐体外路筋硬直 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 関節炎 | 頭痛 | 髄液インターフェロンα増加" ] }, { "id": "NANDO:1200580", "label_en": "Allan-Herndon-Dudley syndrome", "label_ja": "アラン・ハーンドン・タドリー症候群", "yomigana": "あらん・はーんどん・たどりーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200580", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal conjugate eye movement | Abnormal pyramidal sign | Abnormality of extrapyramidal motor function | Abnormality of thyroid physiology | Ankle clonus | Ataxia | Athetosis | Axial hypotonia | Babinski sign | Brain atrophy | Brisk reflexes | Choreoathetosis | Clonus | Congenital onset | Cryptorchidism | Decreased fetal movement | Delayed CNS myelination | Delayed myelination | Delayed speech and language development | Drooling | Dysarthria | Dyskinesia | Dystonia | Elevated circulating thyroid-stimulating hormone concentration | Failure to thrive in infancy | Feeding difficulties in infancy | Flexion contracture | Generalized amyotrophy | Generalized muscle weakness | Hallux valgus | Hyperhidrosis | Hyperreflexia | Hypertension | Hypokinesia | Hypothyroidism | Inability to walk | Increased circulating free T3 | Intellectual disability | Irritability | Kyphoscoliosis | Leukodystrophy | Limb hypertonia | Long face | Macrocephaly at birth | Macrotia | Microcephaly | Moderate intellectual disability | Myopathic facies | Narrow face | Narrow forehead | Neonatal hypotonia | Nystagmus | Pectus excavatum | Pes planus | Pes valgus | Polyhydramnios | Poor head control | Premature birth | Prolonged neonatal jaundice | Prominent antihelix | Recurrent respiratory infections | Rotary nystagmus | Scoliosis | Seizure | Severe global developmental delay | Severe intellectual disability | Short stature | Skeletal muscle atrophy | Sleep disturbance | Small for gestational age | Spastic paraplegia | Spastic tetraplegia | Spasticity | Stahl ear | Tachycardia | Underfolded superior helices | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Babinski サイン | Stahl 耳 | X連鎖潜性遺伝 | アテトーゼ | クローヌス | ジスキネジア | ジストニア | ミオパチー顔貌 | ロイコジストロフィー | 中枢神経髄鞘形成遅延 | 乳児期の成長障害 (成長不全) | 低身長 | 体幹の筋緊張低下 | 停留精巣 | 側弯 | 全身性筋萎縮 | 全身性筋虚弱 | 出生時の大頭 | 協同眼運動の異常 | 反射亢進 | 反射活発 | 反復性呼吸器感染症 | 四肢筋緊張亢進 | 回転性眼振 | 在胎月齢より小さい児 | 外反母趾 | 外反足 | 多汗 | 大耳 | 小頭 | 屈曲拘縮 | 巻き込み不足の上部耳輪 | 後側弯 | 扁平足 | 新生児筋緊張低下 | 早産 | 構音障害 | 歩行不能 | 流涎 | 漏斗胸 | 狭い額 | 狭い顔 | 甲状腺刺激ホルモン過剰症 | 甲状腺機能低下症 | 甲状腺生理異常 | 痙性 | 痙性四肢麻痺 | 痙性対麻痺 | 発作 | 発語および言語発達遅延 | 目立つ対耳輪 | 眼振 | 睡眠障害 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "重度 | 筋萎縮 | 羊水過多 | 胎動減少 | 脳萎縮 | 舞踏病アテトーゼ | 血清 free トリヨードチロニン (fT3)増加 | 被刺激性 | 足クローヌス | 運動失調 | 運動減少 | 遷延性新生児黄疸 | 重度の全般性発達遅滞 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 長い顔 | 頸定不全 | 頻拍 | 食餌摂取障害 in infancy | 髄鞘形成遅延 | 高血圧" ] }, { "id": "NANDO:2201001", "label_en": "Pustular psoriasis", "label_ja": "膿疱性乾癬（汎発型）", "yomigana": "のうほうせいかんせん（はんぱつがた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201001", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100285", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200659", "label_en": "Weaver syndrome", "label_ja": "ウィーバー症候群", "yomigana": "うぃーばーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200659", "notificationNumber": "175", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal fingernail morphology | Abnormal metaphysis morphology | Abnormally low-pitched voice | Absent septum pellucidum | Accelerated skeletal maturation | Atypical behavior | Autosomal dominant inheritance | Bilateral tonic-clonic seizure | Broad foot | Broad forehead | Broad thumb | Calcaneovalgus deformity | Camptodactyly | Camptodactyly of finger | Cerebellar hypoplasia | Coxa valga | Cryptorchidism | Cutis laxa | Deep philtrum | Deep-set nails | Delayed CNS myelination | Delayed speech and language development | Depressed nasal bridge | Diastasis recti | Dimple chin | Downslanted palpebral fissures | Dysarthria | Dysharmonic skeletal maturation | Epicanthus | Feeding difficulties in infancy | Fetal onset | Fine hair | Finger syndactyly | Flared femoral metaphysis | Flared humeral metaphysis | Flat occiput | Generalized hypotonia | Generalized non-motor (absence) seizure | Global developmental delay | Hoarse cry | Hoarse voice | Hydrocele testis | Hypertelorism | Hypertonia | Hypoplasia of penis | Hypoplastic iliac wing | Hypoplastic toenails | Hypotonia | Inguinal hernia | Intellectual disability | Inverted nipples | Joint contracture of the hand | Joint hypermobility | Joint stiffness | Kyphosis | Large hands | Lateral ventricle dilatation | Limited elbow extension | Limited knee extension | Long philtrum | Macrocephaly | Macrotia | Mandibular prognathia | Melanocytic nevus | Metatarsus adductus | Micrognathia | Mild intellectual disability | Overgrowth | Overlapping toe | Patent ductus arteriosus | Pes cavus | Polyphagia | Poor fine motor coordination | Posteriorly rotated ears | Postural instability | Prominent fingertip pads | Radial deviation of finger | Redundant skin | Retrognathia | Round face | Sandal gap | Scoliosis | Seizure | Short fourth metatarsal | Short ribs | Single transverse palmar crease | Slurred speech | Sparse hair | Spasticity | Strabismus | Talipes equinovarus | Tall stature | Thin nail | Toe clinodactyly | Umbilical hernia | Ventriculomegaly | Wide distal femoral metaphysis" ], "symptoms_ja_list": [ "サンダルギャップ | メラニン細胞母斑 | 上腕骨骨幹端フレア | 下顎小孔 | 下顎後退 | 下顎突出 | 不明瞭言語 | 不調和な骨年齢 | 両眼隔離 | 中枢神経髄鞘形成遅延 | 丸い顔 | 停留精巣 | 側弯 | 側脳室拡大 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性間代性強直性発作 | 内反尖足 | 内眼角贅皮 | 内転中足骨 | 凹足 | 動脈管開存症 | 合指症 | 嗄声 | 外反股 | 外反踵骨変形 | 大きな手 | 大耳 | 大腿骨骨幹端フレア | 大頭 | 姿勢不安定 | 小脳低形成 | 小顎 | 屈指 | 常染色体顕性遺伝 | 幅広い母指 | 幅広い足 | 幅広い遠位大腿骨骨幹端 | 幅広い額 | 平坦な後頭 | 弛緩性皮膚 | 弯趾 | 後弯 | 循環器系の形態異常 | 微細運動協調不全 | 手掌横線 | 手関節拘縮 | 指の橈側偏位 | 指爪の異常 | 斜視 | 構音障害 | 欠神発作 | 深い人中 | 深くセットされた爪 | 異常に低音の声 | 疎な毛髪 | 痙性 | 発作 | 発語および言語発達遅延 | 目立つ指尖パッド | 眼瞼裂斜下 | 知的障害 | 知的障害", "軽度 | 短い第4中足骨 | 短い肋骨 | 筋緊張亢進 | 筋緊張低下 | 粗い泣き声 | 細い毛髪 | 耳介後方回転 | 肘伸展制限 | 脳室拡大 | 腸骨翼低形成 | 腹直筋離開 | 膝伸展制限 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 薄い爪 | 行動異常 | 趾の重なり | 趾爪低形成 | 逆位乳頭 | 透明中隔欠損 | 過剰な皮膚 | 過成長 | 過食症 | 長い人中 | 関節拘縮 | 関節過動 | 陰嚢水腫 | 陰茎低形成 | 食餌摂取障害 in infancy | 骨幹端の異常 | 骨成熟促進 | 高身長 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200586", "label_en": "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease", "label_ja": "脱髄型末梢神経障害、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病", "yomigana": "だつずいがたまっしょうしんけいしょうがい、ちゅうすうせいずいしょうけいせいふぜんしょう、わーでんばーぐしょうこうぐん、ひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200586", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abdominal pain | Abnormal autonomic nervous system physiology | Abnormal eyebrow morphology | Abnormal pyramidal sign | Absent brainstem auditory responses | Aganglionic megacolon | Alacrima | Anosmia | Areflexia | Arrhythmia | Arthrogryposis multiplex congenita | Ataxia | Autosomal dominant inheritance | Blue irides | Cerebral atrophy | Cerebral dysmyelination | Coma | Constipation | Cryptorchidism | Decreased fetal movement | Decreased lacrimation | Decreased nerve conduction velocity | Demyelinating peripheral neuropathy | Distal amyotrophy | Distal muscle weakness | Distal sensory impairment | Dysmyelinating leukodystrophy | Fetal onset | Global developmental delay | Growth delay | Hearing impairment | Hepatomegaly | Hepatosplenomegaly | Heterochromia iridis | Hypogonadism | Hypohidrosis | Hypopigmentation of hair | Hypopigmented skin patches | Hypoplasia of the semicircular canal | Hyporeflexia | Hypotonia | Ileus | Intellectual disability | Long-segment aganglionic megacolon | Microcolon | Myelin outfoldings | Myoclonus | Myopia | Neonatal hypotonia | Neonatal onset | Nystagmus | Peripheral demyelination | Peripheral hypomyelination | Peripheral neuropathy | Pes cavus | Portal hypertension | Premature graying of hair | Prominent nasal bridge | Seizure | Sensorineural hearing impairment | Short-segment aganglionic megacolon | Spastic paraparesis | Spastic tetraplegia | Spasticity | Splenomegaly | Synophrys | Telecanthus | Torticollis | Tremor | Underdeveloped nasal alae | White eyebrow | White eyelashes | White forelock | Wide nasal bridge" ], "symptoms_ja_list": [ "イレウス | ミオクローヌス | 三半規管低形成 | 不整脈 | 低色素性皮膚斑 | 便秘 | 停留精巣 | 先天性多発性関節拘縮 | 全般性発達遅滞 | 内眼角外方偏位 | 凹足 | 前頭部白髪 | 反射低下 | 大脳萎縮 | 大脳髄鞘形成異常症 | 小結腸 | 常染色体顕性遺伝 | 幅広い鼻梁 | 性腺機能低下症 | 感音難聴 | 成長遅滞 | 振戦 | 斜頚 | 新生児筋緊張低下 | 早発性毛髪白髪 | 昏睡 | 末梢神経ニューロパチー | 末梢神経脱髄 | 末梢神経髄鞘低形成 | 毛髪低色素 | 流涙減少 | 減汗症 | 無反射 | 無嗅覚 | 無涙症 | 無神経節性巨大結腸 | 異常な自律神経生理 | 痙性 | 痙性四肢麻痺 | 痙性対不全麻痺 | 発作 | 白い眉毛 | 白い睫毛 | 目立つ鼻梁 | 眉毛の異常 | 眼振 | 知的障害 | 短節性無神経節性巨大結腸 | 神経活動電位の振幅減少 | 筋緊張低下 | 肝脾腫 | 肝腫 | 胎動減少 | 脱髄性ロイコジストロフィー | 脱髄性末梢運動神経ニューロパチー | 脳幹聴覚反応欠損 | 脾腫 | 腹痛 | 虹彩異色症 | 近視 | 連続眉毛 | 運動失調 | 遠位感覚障害 | 遠位筋萎縮 | 遠位筋虚弱 | 錐体路運動機能の異常 | 長節無神経節性巨大結腸 | 門脈圧亢進 | 難聴 | 青色虹彩 | 髄鞘の外方折畳み | 鼻翼未発達" ] }, { "id": "NANDO:2200332", "label_en": "Thyroid-stimulating hormone deficiency", "label_ja": "甲状腺刺激ホルモン分泌低下症", "yomigana": "こうじょうせんしげきほるもんぶんぴつていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200332", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1100009", "label_en": "Endocrine disease", "label_ja": "内分泌系疾患", "yomigana": "ないぶんぴつけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100009", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201162", "label_en": "Pfeiffer syndrome type 3", "label_ja": "ファイファー症候群3型", "yomigana": "ふぁいふぁーしょうこうぐん3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201162", "notificationNumber": "183", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [ "Amblyopia | Anal atresia | Aqueductal stenosis | Brachyturricephaly | Broad hallux phalanx | Broad thumb | Chiari malformation | Choanal atresia | Cleft palate | Depressed nasal bridge | Finger syndactyly | Hallux varus | Hearing impairment | High forehead | High palate | Horseshoe kidney | Hydronephrosis | Hypertelorism | Increased intracranial pressure | Intellectual disability | Intestinal malrotation | Laryngomalacia | Limitation of joint mobility | Low-set ears | Midface retrusion | Proptosis | Respiratory distress | Seizure | Short foot | Short hallux | Short nose | Small hand | Stenosis of the external auditory canal | Toe syndactyly | Tracheomalacia | Vesicoureteral reflux" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | 両眼隔離 | 内反母趾 | 口蓋裂 | 合指症 | 合趾症 | 呼吸窮迫 | 喉頭軟化症 | 外耳道狭窄 | 小さい手 | 幅広い母指 | 幅広い母趾趾骨 | 弱視 | 後鼻孔閉鎖 | 気管軟化症 | 水腎症 | 水道狭窄 | 発作 | 眼球突出 | 知的障害 | 短い母趾 | 短い足 | 短い鼻 | 短塔状頭 | 耳介低位 | 腸回転異常 | 膀胱尿管逆流 | 落ちくぼんだ鼻梁 | 鎖肛 | 関節運動制限 | 難聴 | 頭蓋内圧の増加 | 顔面中部後退 | 馬蹄腎 | 高い額 | 高口蓋" ] }, { "id": "NANDO:2100185", "label_en": "Microangiopathic hemolytic anemia", "label_ja": "微小血管障害性溶血性貧血", "yomigana": "びしょうけっかんしょうがいせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2100185", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200207", "label_en": "Idiopathic basal ganglia calcification", "label_ja": "特発性基底核石灰化症", "yomigana": "とくはつせいきていかくせっかいかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200207", "notificationNumber": "27", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal pyramidal sign | Anxiety | Basal ganglia calcification | Bilateral basal ganglia lesions | Bradykinesia | Cerebellar calcifications | Choreoathetosis | Clumsiness | Dementia | Dyskinesia | Dysphagia | Dystonia | Easy fatigability | Headache | Hypertension | Impotence | Involuntary movements | Mask-like facies | Memory impairment | Muscle spasm | Personality changes | Progressive neurologic deterioration | Psychosis | Rigidity | Seizure | Slurred speech | Tremor | Unsteady gait | Unusual CNS infection | Urinary urgency | Vertigo" ], "symptoms_ja_list": [ "Dementia | インポテンス | ジスキネジア | ジストニア | 不器用 | 不安 | 不安定歩行 | 不明瞭言語 | 不随意運動 | 両側性基底核病変 | 中枢神経感染 | 仮面様顔貌 | 嚥下障害 | 基底核石灰化 | 小脳石灰化 | 尿意切迫 | 性格変化 | 振戦 | 易疲労性 | 発作 | 眩暈 | 硬直 | 筋けいれん | 精神病 | 舞踏病アテトーゼ | 記憶障害 | 進行性神経学的悪化 | 運動緩徐 | 錐体路運動機能の異常 | 頭痛 | 高血圧" ] }, { "id": "NANDO:1200636", "label_en": "Acquired idiopathic generalized anhidrosis", "label_ja": "特発性後天性全身性無汗症", "yomigana": "とくはつせいこうてんせいぜんしんせいむかんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200636", "notificationNumber": "163", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200729", "label_en": "UNC13D/Munc13-4 deficiency", "label_ja": "UNC13D/Munc13-4欠損症", "yomigana": "ゆーえぬしー13でぃー/えむゆーえぬしー13−4けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200729", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Abnormal natural killer cell physiology | Anemia | Autosomal recessive inheritance | Childhood onset | Decreased total granulocyte count | Fever | Hemophagocytosis | Hepatosplenomegaly | Hypertriglyceridemia | Hypofibrinogenemia | Infantile onset | Juvenile onset | Neonatal onset" ], "symptoms_ja_list": [ "ナチュラルキラー細胞生理の異常 | 低フィブリノーゲン血症 | 常染色体潜性遺伝 | 発熱 | 肝脾腫 | 血液貪食症 | 貧血 | 顆粒球減少症 | 高トリグリセリド血症" ] }, { "id": "NANDO:1201069", "label_en": "Pachygyria", "label_ja": "厚脳回", "yomigana": "こうのうかい", "url": "http://nanbyodata.jp/ontology/NANDO_1201069", "notificationNumber": "138", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200377", "label_en": "Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome", "label_ja": "下垂体性TSH分泌亢進症", "yomigana": "かすいたいせいてぃーえすえいちぶんぴつこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200377", "notificationNumber": "73", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abducens palsy | Abnormal hair quantity | Abnormal pituitary gland morphology | Abnormality of the menstrual cycle | Adrenocorticotropic hormone deficiency | Adrenocorticotropin deficient adrenal insufficiency | Blindness | Central adrenal insufficiency | Congestive heart failure | Cranial nerve paralysis | Decreased circulating ACTH concentration | Decreased fertility in females | Decreased fertility in males | Delayed puberty | Diplopia | Easy fatigability | Elevated circulating growth hormone concentration | Elevated circulating thyroid-stimulating hormone concentration | Enlarged pituitary gland | Erectile dysfunction | Euthyroid hyperthyroxinemia | Fatigue | Female hypogonadism | Fourth cranial nerve palsy | Goiter | Gynecomastia | Headache | Hemianopia | Hyperhidrosis | Hypertension | Hyperthyroidism | Hypogonadism | Hypogonadotropic hypogonadism | Hypokalemia | Hypotension | Impotence | Increased circulating gonadotropin level | Increased circulating prolactin concentration | Infertility | Internal ophthalmoplegia | Irregular menstruation | Male hypogonadism | Nausea and vomiting | Oculomotor nerve palsy | Osteopenia | Osteoporosis | Pallor | Palpitations | Pericardial effusion | Periodic hypokalemic paresis | Progressive visual loss | Ptosis | Secondary growth hormone deficiency | Seizure | Sudden loss of visual acuity | Supraventricular arrhythmia | Thyroid crisis | Tremor | Ventricular arrhythmia | Vertigo | Vomiting | Weight loss" ], "symptoms_ja_list": [ "うっ血性心不全 | インポテンス | ゴナドトロピン過剰症 | プロラクチン過剰症 | 上室性不整脈 | 下垂体異常 | 下垂体腫大 | 不妊 | 中枢性副腎不全 | 二次性成長ホルモン欠乏症 | 低カリウム血症 | 低ゴナドトロピン性性腺機能低下症 | 低血圧 | 体重喪失 | 内眼筋麻痺 | 副腎皮質刺激ホルモン(ACTH) 欠乏性副腎不全 | 副腎皮質刺激ホルモン欠乏症 | 勃起異常 | 動悸 | 半盲 | 吐気と 嘔吐 | 周期性低カルシウム血症性不全麻痺 | 嘔吐 | 多汗 | 女性の妊孕性減少 | 女性型乳房 | 女性性腺機能低下症 hypogonadism | 循環性ACTH 値減少 | 心外膜滲出液 | 心室性不整脈 | 思春期遅発 | 性腺機能低下症 | 成長ホルモン過剰症 | 振戦 | 易疲労性 | 月経不純 | 月経周期異常 | 甲状腺クライシス | 甲状腺刺激ホルモン過剰症 | 甲状腺機能亢進症 | 甲状腺機能正常性高サイロキシン血症 | 甲状腺腫 | 男性の妊孕性減少 | 男性性腺機能低下症 | 異常な毛髪量 | 疲労 | 発作 | 盲 | 眩暈 | 眼球運動神経麻痺 | 眼瞼下垂 | 突然の中心視力喪失 | 第4脳神経麻痺 | 第VI脳神経麻痺 | 脳神経麻痺 | 蒼白 | 複視 | 進行性視力喪失 | 頭痛 | 骨減少症 | 骨粗鬆症 | 高血圧" ] }, { "id": "NANDO:1200496", "label_en": "Non-dystrophic myotonia", "label_ja": "非ジストロフィー性ミオトニー症候群", "yomigana": "ひじすとろふぃーせいみおとにーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200496", "notificationNumber": "114", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200304", "label_en": "Dyskeratosis congenita", "label_ja": "先天性角化不全症", "yomigana": "せんてんせいかくかふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200304", "notificationNumber": "60", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal eyebrow morphology | Abnormal eyelash morphology | Abnormal fingernail morphology | Abnormal morphology of female internal genitalia | Abnormal testis morphology | Abnormality of coagulation | Abnormality of neutrophils | Abnormality of the dentition | Abnormality of the pharynx | Alopecia | Anemia | Anorectal anomaly | Aplasia/Hypoplasia of the skin | Aplastic/hypoplastic toenail | Avascular necrosis | Blepharitis | Bone marrow hypocellularity | Carious teeth | Cataract | Cellular immunodeficiency | Cerebral calcification | Cirrhosis | Coarse metaphyseal trabecularization | Diabetes mellitus | Displacement of the urethral meatus | Esophageal stenosis | Global developmental delay | Hearing impairment | Hepatic failure | Hepatomegaly | Hyperhidrosis | Hypermelanotic macule | Hypodontia | Hypopigmented skin patches | Hypoplasia of the maxilla | Intrauterine growth retardation | Lymphoma | Macule | Malabsorption | Nail dystrophy | Neoplasm | Neoplasm of the pancreas | Oral leukoplakia | Osteoporosis | Palmoplantar keratoderma | Periodontitis | Premature graying of hair | Recurrent fractures | Recurrent respiratory infections | Scoliosis | Short stature | Skin ulcer | Skin vesicle | Sparse hair | Splenomegaly | Taurodontia | Telangiectasia of the skin | Thrombocytopenia | Tracheoesophageal fistula | Urethral stenosis | White hair" ], "symptoms_ja_list": [ "メラニン増加性斑 | リンパ腫 | 上顎低形成 | 低色素性皮膚斑 | 低身長 | 側弯 | 全般性発達遅滞 | 凝固の異常 | 反復性呼吸器感染症 | 反復性骨折 | 口腔ロイコプラキア | 吸収障害 | 咽頭の異常 | 外部尿道口位置異常 | 多汗 | 大脳石灰化 | 女性内性器異常 | 好中球の異常 | 子宮内成長遅滞 | 尿道狭窄 | 指爪の異常 | 掌蹠角皮症 | 斑 | 新生物 | 早発性毛髪白髪 | 歯の異常 | 歯周炎 | 気管食道瘻 | 減歯症 | 無菌性壊死 | 爪ジストロフィー | 牛歯 | 異常な皮膚水泡 | 疎な毛髪 | 白内障 | 白髪 | 皮膚小水疱 | 皮膚毛細血管拡張 | 皮膚潰瘍 | 皮膚無形成/低形成 | 眉毛の異常 | 眼瞼炎 | 睫毛の異常 | 禿頭 | 粗い骨梁 | 精巣異常 | 糖尿病 | 細胞免疫不全 | 肛門直腸奇形 | 肝不全 | 肝硬変 | 肝腫 | 脾腫 | 膵新生物 | 血小板減少 | 貧血 | 趾爪無形成/低形成 | 難聴 | 食道狭窄 | 骨粗鬆症 | 骨髄細胞数増多 | 齲歯" ] }, { "id": "NANDO:1200889", "label_en": "Acquired pure red cell aplasia", "label_ja": "後天性赤芽球癆", "yomigana": "こうてんせいせきがきゅうろう", "url": "http://nanbyodata.jp/ontology/NANDO_1200889", "notificationNumber": "283", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200271", "label_en": "Total anomalous pulmonary venous connection", "label_ja": "総肺静脈還流異常症", "yomigana": "そうはいじょうみゃくかんりゅういじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200271", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100088", "symptoms_en_list": [ "Apneic episodes in infancy | Atrial septal defect | Atrial situs ambiguous | Autosomal dominant inheritance | Cardiac total anomalous pulmonary venous connection | Cardiomegaly | Coarctation of aorta | Cyanosis | Dextrocardia | Double outlet right ventricle | Exertional dyspnea | Fatigue | Hepatomegaly | Hypoplastic aortic arch | Hypoplastic left ventricle | Increased anterioposterior diameter of thorax | Infracardiac total anomalous pulmonary venous connection | Low-output congestive heart failure | Mitral atresia | Mitral regurgitation | Mixed total anomalous pulmonary venous connection | Pallor | Paroxysmal dyspnea | Patent ductus arteriosus | Poor suck | Pulmonary arterial hypertension | Pulmonary artery stenosis | Pulmonary hypoplasia | Recurrent respiratory infections | Respiratory distress | Respiratory failure requiring assisted ventilation | Right ventricular failure | Single ventricle | Supracardiac total anomalous pulmonary venous connection | Tachycardia | Total anomalous pulmonary venous return | Transposition of the great arteries | Tricuspid regurgitation | Ventricular septal defect" ], "symptoms_ja_list": [ "チアノーゼ | 三尖弁逆流 | 両大血管右室起始症 | 乳児期の無呼吸エピソード | 低拍出性うっ血性心不全 | 僧帽弁逆流 | 僧帽弁閉鎖 | 動脈不定位 | 動脈管開存症 | 単心室 | 反復性呼吸器感染症 | 右室不全 | 右胸心 | 吸啜不全 | 呼吸窮迫 | 大動脈弓低形成 | 大動脈縮窄 | 大血管転位 | 左心低形成 | 常染色体顕性遺伝 | 心上総肺静脈還流異常 | 心内総肺静脈還流異常 | 心室中隔欠損 | 心房中隔欠損 | 心拡大 | 心総肺静脈還流異常 | 混合性総肺静脈還流異常 | 疲労 | 発作性呼吸困難 | 総肺静脈還流異常 | 肝腫 | 肺低形成 | 肺動脈狭窄 | 肺高血圧 | 胸郭前後径増加 | 蒼白 | 補助換気が必要な呼吸不全 | 運動性呼吸困難 | 頻拍" ] }, { "id": "NANDO:1200555", "label_en": "Alexander disease type I", "label_ja": "大脳優位型アレキサンダー病", "yomigana": "だいのうゆういがたあれきさんだーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200555", "notificationNumber": "131", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal pyramidal sign | Abnormal thalamic MRI signal intensity | Ataxia | Cachexia | Cerebellar atrophy | Dysarthria | Dysphagia | Failure to thrive | Focal T2 hyperintense basal ganglia lesion | Generalized hypotonia | Global developmental delay | Hydrocephalus | Hyperreflexia | Hypotonia | Palatal tremor | Progressive macrocephaly | Rosenthal fibers | Scoliosis | Seizure | Spasticity | Vomiting" ], "symptoms_ja_list": [ "Rosenthal 線維 | 側弯 | 全般性発達遅滞 | 全身性筋緊張低下 | 反射亢進 | 口蓋ミオクローヌス | 嘔吐 | 嚥下障害 | 大脳白質の異常 | 小脳萎縮 | 巣状 T2 高輝度基底核病変 | 悪液質 (カヘキシー) | 成長障害 (成長不全) | 構音障害 | 水頭症 | 異常な視床MRI シグナル強度 | 痙性 | 発作 | 筋緊張低下 | 進行性大頭 | 運動失調 | 錐体路運動機能の異常" ] }, { "id": "NANDO:2100128", "label_en": "Chronic adrenal insufficiency", "label_ja": "慢性副腎皮質機能低下症", "yomigana": "まんせいふくじんひしつきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100128", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200342", "label_en": "obsolete Dyskeratosis congenita", "label_ja": "obsolete 先天性角化不全症", "yomigana": "せんてんせいかくかふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200342", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201174", "label_en": "Progressive Familial Intrahepatic Cholestasis, other types", "label_ja": "進行性家族性肝内胆汁うっ滞症　その他の型", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう　そのたのかた", "url": "http://nanbyodata.jp/ontology/NANDO_1201174", "notificationNumber": "338", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201043", "label_en": "Progressive familial intrahepatic cholestasis type 1", "label_ja": "進行性家族性肝内胆汁うっ滞症1型", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201043", "notificationNumber": "338", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201098", "label_en": "Late-onset argininosuccinic aciduria", "label_ja": "遅発型アルギニノコハク酸尿症", "yomigana": "ちはつがたあるぎにのこはくさんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201098", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200031", "label_en": "Langerhans cell histiocytosis", "label_ja": "ランゲルハンス細胞組織球症", "yomigana": "らんげるはんすさいぼうそしききゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200031", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100005", "symptoms_en_list": [ "Ataxia | Bone pain | Cough | Decreased total leukocyte count | Diabetes insipidus | Dysarthria | Eczematoid dermatitis | Fever | Genital ulcers | Growth delay | Hearing impairment | Hepatic failure | Hepatomegaly | Hypoalbuminemia | Lymphadenopathy | Mental deterioration | Oral ulcer | Osteolysis | Respiratory insufficiency | Skin rash | Splenomegaly | Spontaneous pneumothorax | Thrombocytopenia | Weight loss" ], "symptoms_ja_list": [ "リンパ節腫大 | 体重喪失 | 口腔潰瘍 | 呼吸不全 | 外層 | 尿崩症 | 性器潰瘍 | 成長遅滞 | 構音障害 | 湿疹 | 発熱 | 白血球減少症 | 皮膚発疹 | 知能悪化 | 肝不全 | 肝腫 | 脾腫 | 自然気胸 | 血小板減少 | 運動失調 | 難聴 | 骨痛 | 骨融解 | 高アルブミン血症" ] }, { "id": "NANDO:2201353", "label_en": "Spondyloepiphyseal dysplasia with metatarsal shortening", "label_ja": "中足骨短縮を伴う脊椎骨端異形成症", "yomigana": "ちゅうそくこつたんしゅくをともなうせきついこったんいけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201353", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Arthralgia | Autosomal dominant inheritance | Coxa vara | Flat capital femoral epiphysis | Flexion contracture | Growth abnormality | Intervertebral space narrowing | Irregular vertebral endplates | Limitation of joint mobility | Narrow femoral neck | Narrow iliac wing | Platyspondyly | Scoliosis | Short femoral neck | Short metacarpal | Short metatarsal | Short toe | Thoracic kyphosis | Waddling gait" ], "symptoms_ja_list": [ "よたつき歩行 | 不規則な脊椎終板 | 側弯 | 内反股 | 屈曲拘縮 | 常染色体顕性遺伝 | 平坦な大腿骨骨頭骨端 | 成長異常 | 扁平脊椎 | 椎間腔狭窄 | 狭い大腿骨頸部 | 狭い腸骨翼 | 短い中手骨 | 短い中足骨 | 短い大腿骨頸部 | 短い趾 | 胸部後弯 | 関節痛 | 関節運動制限" ] }, { "id": "NANDO:1201150", "label_en": "Neurodegeneration with brain iron accumulation type5", "label_ja": "脳内鉄沈着神経変性症5型", "yomigana": "のうないてつちんちゃくしんけいへんせいしょう5がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201150", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormality of eye movement | Absent speech | Aggressive behavior | Akinesia | Anxiety | Bradykinesia | Cerebellar atrophy | Cerebral atrophy | Childhood onset | Delayed speech and language development | Dementia | Dystonia | Eye of the tiger anomaly of globus pallidus | Frontal release signs | Global developmental delay | Intellectual disability | Iron accumulation in brain | Iron accumulation in substantia nigra | Mental deterioration | Neurodegeneration | Optic atrophy | Parkinsonism | Poor speech | Progressive encephalopathy | Rigidity | Seizure | Sleep disturbance | Spastic paraparesis | Tremor | X-linked dominant inheritance" ], "symptoms_ja_list": [ "Dementia | X連鎖顕性遺伝 | ジストニア | パーキンソン症候群 | フロンタルリリースサイン | 不安 | 全般性発達遅滞 | 大脳萎縮 | 小脳萎縮 | 振戦 | 攻撃的行動 | 淡蒼球の虎の眼奇形 | 無動症 | 異常な自律神経生理 | 痙性対不全麻痺 | 発作 | 発語および言語発達遅延 | 発語不全 | 発語欠損 | 眼運動の異常 | 睡眠障害 | 知的障害 | 知能悪化 | 硬直 | 神経変性 | 脳内鉄沈着 | 視神経萎縮 | 進行性脳症 | 運動緩徐 | 黒質内鉄沈着" ] }, { "id": "NANDO:1200350", "label_en": "Chédiak-Higashi syndrome", "label_ja": "チェディアック・東症候群", "yomigana": "ちぇでぃあっく・ひがししょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200350", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal bleeding | Abnormal dense granules | Abnormal leukocyte morphology | Abnormal natural killer cell morphology | Abnormal neutrophil physiology | Abnormal platelet function | Abnormal retinal pigmentation | Abnormality of multiple cell lineages in the bone marrow | Abnormality of the nervous system | Anemia | Ataxia | Atrophy of alveolar ridges | Atrophy of the spinal cord | Autosomal recessive inheritance | Brain atrophy | Bruising susceptibility | Cerebellar atrophy | Cognitive impairment | Cranial nerve paralysis | Cutaneous photosensitivity | Decreased liver function | Decreased nerve conduction velocity | Decreased total leukocyte count | Decreased total neutrophil count | Dementia | Edema | Elevated circulating hepatic transaminase concentration | Epistaxis | Fever | Foot dorsiflexor weakness | Gait disturbance | Giant melanosomes in melanocytes | Gingival bleeding | Gingivitis | Hemophagocytosis | Hepatomegaly | Hepatosplenomegaly | Horizontal nystagmus | Hypertriglyceridemia | Hypofibrinogenemia | Hyponatremia | Hypopigmentation of hair | Hypopigmentation of the skin | Hypoproteinemia | Hyporeflexia | Immunodeficiency | Impaired neutrophil bactericidal activity | Inability to walk | Increased circulating ferritin concentration | Infantile onset | Intellectual disability | Iris hypopigmentation | Jaundice | Large clumps of pigment irregularly distributed along hair shaft | Lymphadenopathy | Macular hypoplasia | Motor polyneuropathy | Muscle weakness | Neonatal onset | Neurodegeneration | Nystagmus | Ocular albinism | Pancytopenia | Parkinsonism | Pericardial effusion | Periodontitis | Peripheral neuropathy | Photophobia | Pleural effusion | Progressive peripheral neuropathy | Recurrent bacterial infections | Recurrent bacterial skin infections | Recurrent infections | Recurrent respiratory infections | Recurrent staphylococcal infections | Recurrent systemic pyogenic infections | Reduced visual acuity | Rotary nystagmus | Seizure | Sensory neuropathy | Silver-gray hair | Skin rash | Somatic sensory dysfunction | Spastic paraplegia | Specific learning disability | Splenomegaly | Spontaneous", "recurrent epistaxis | Spotty hyperpigmentation | Strabismus | Thrombocytopenia | Tremor | Vacuolated lymphocytes | Young adult onset" ], "symptoms_ja_list": [ "Dementia | ナチュラルキラー細胞の異常 | パーキンソン症候群 | メラニン細胞の巨大メラノソーム | リンパ節腫大 | 中心視力減少 | 低タンパク血症 | 低ナトリウム血症 | 低フィブリノーゲン血症 | 免疫不全 | 出血傾向 | 反射低下 | 反復性ブドウ球菌感染症 | 反復性全身性化膿性感染症 | 反復性呼吸器感染症 | 反復性感染症 | 反復性細菌性皮膚感染症 | 反復性細菌感染症 | 回転性眼振 | 好中球殺菌能障害 | 好中球減少症 | 好中球生理の異常 | 小脳萎縮 | 常染色体潜性遺伝 | 心外膜滲出液 | 感覚ニューロパチー | 感覚障害 | 振戦 | 斑状高色素 | 斜視 | 末梢神経ニューロパチー | 歩行不能 | 歩行障害 | 歯周炎 | 歯槽隆起萎縮 | 歯肉出血 | 歯肉炎 | 毛髪低色素 | 毛髪軸に沿って不規則に分布した大きな色素の塊 | 水平性眼振 | 汎血球減少症 | 浮腫 | 特異的学習障害 | 異常な出血 | 痙性対麻痺 | 発作 | 発熱 | 白血球の異常 | 白血球減少症 | 皮膚低色素 | 皮膚光線過敏症 | 皮膚発疹 | 眼振 | 眼白子症 | 知的障害 | 神経変性 | 神経活動電位の振幅減少 | 神経系の異常 | 空胞化リンパ球 | 筋虚弱 | 網膜色素異常 | 羞明 | 肝トランスアミナーゼ上昇 | 肝機能低下 | 肝脾腫 | 肝腫 | 胸膜滲出液 | 脊髄萎縮 | 脳神経麻痺 | 脳萎縮 | 脾腫 | 自然反復性鼻出血 | 虹彩低色素 | 血小板機能の異常 | 血小板減少 | 血液貪食症 | 血清フェリチン増加 | 認知障害 | 貧血 | 足背屈筋虚弱 | 進行性末梢神経ニューロパチー | 運動失調 | 運動性ポリニューロパチー | 銀髪 | 骨髄の多細胞系の異常 | 高トリグリセリド血症 | 高密度顆粒異常 | 黄斑低形成 | 黄疸 | 鼻出血" ] }, { "id": "NANDO:1200399", "label_en": "21-Hydroxylase deficiency", "label_ja": "21-水酸化酵素欠損症", "yomigana": "21すいさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200399", "notificationNumber": "81", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal external genitalia morphology | Abnormal thorax morphology | Abnormality of the menstrual cycle | Accelerated skeletal maturation | Acne | Adrenal hyperplasia | Adrenogenital syndrome | Ambiguous genitalia | Ambiguous genitalia", "female | Aplasia of the uterus | Autosomal recessive inheritance | Clitoral hypertrophy | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Decreased fertility | Decreased testicular size | Dehydration | Elevated urinary epinephrine level | Failure to thrive | Feeding difficulties | Fever | Frontal balding | Growth abnormality | Gynecomastia | Hirsutism | Hyperactive renin-angiotensin system | Hyperkalemia | Hyperkalemic metabolic acidosis | Hypernatriuria | Hypertension | Hypocapnia | Hypochloremia | Hypoglycemia | Hypogonadotropic hypogonadism | Hyponatremia | Hypospadias | Hypotension | Hypovolemia | Increased circulating ACTH level | Long penis | Miscarriage | Neonatal hypoglycemia | Oligomenorrhea | Precocious puberty in females | Premature adrenarche | Premature fusion of the radial epiphyseal plates | Premature pubarche | Primary adrenal insufficiency | Recurrent fever | Renal salt wasting | Short stature | Tall stature | Urogenital sinus anomaly | Vomiting | Weight loss" ], "symptoms_ja_list": [ "?瘡 | レニン-アンギオテンシン系活動亢進 | 低アルドステロン症 | 低クロール血症 | 低ゴナドトロピン性性腺機能低下症 | 低ナトリウム血症 | 低二酸化炭素症 | 低血圧 | 低血糖 | 低身長 | 体重喪失 | 前頭部禿頭 | 副腎性器症候群 | 副腎皮質性思春期早発 | 副腎過形成 | 原発性副腎不全 | 嘔吐 | 外性器異常 | 多毛 | 女性での思春期早発 | 女性型乳房 | 妊孕性減少 | 子宮無形成 | 尿中エピネフリン上昇 | 尿道下裂 | 希発月経 | 常染色体潜性遺伝 | 循環性ACTH 値増加 | 循環性コルチゾール値減少 | 循環血液量減少 | 性別不明の外性器 | 性別不明の外性器", "女性 | 恥毛早発 | 成長異常 | 成長障害 (成長不全) | 新生児低血糖 | 早発性橈骨骨端板癒合 | 月経周期異常 | 泌尿生殖洞奇形 | 発熱 | 発熱エピソード | 精巣サイズ減少 | 胸郭の異常 | 脱水 | 腎性塩類喪失 | 自然流産 | 陰核肥大 | 陰茎拡大 | 食餌摂取障害 | 骨成熟促進 | 高カリウム血症 | 高カリウム血症性代謝性アシドーシス | 高ナトリウム尿 | 高血圧 | 高身長" ] }, { "id": "NANDO:2201437", "label_en": "Progressive familial intrahepatic cholestasis type 2", "label_ja": "進行性家族性肝内胆汁うっ滞症2型", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201437", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [ "Autosomal recessive inheritance | Cirrhosis | Conjugated hyperbilirubinemia | Death in childhood | Diarrhea | Elevated circulating alkaline phosphatase concentration | Failure to thrive | Fat malabsorption | Hepatocellular carcinoma | Hepatomegaly | Infantile onset | Intermittent jaundice | Intrahepatic cholestasis | Pruritus | Short stature | Splenomegaly" ], "symptoms_ja_list": [ "アルカリホスファターゼ上昇 | 下痢 | 低身長 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 掻痒 | 肝内胆汁うっ滞 | 肝硬変 | 肝細胞癌 | 肝腫 | 脂肪吸収不全 | 脾腫 | 間歇的黄疸" ] }, { "id": "NANDO:1200331", "label_en": "Ataxia telangiectasia", "label_ja": "毛細血管拡張性運動失調症", "yomigana": "もうさいけっかんかくちょうせいうんどうしっちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200331", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal hair morphology | Abnormal speech pattern | Abnormal spermatogenesis | Abnormal testis morphology | Abnormal total B cell count | Abnormality of chromosome stability | Abnormality of eye movement | Abnormality of movement | Abnormality of the immune system | Acute lymphoblastic leukemia | Aplasia/Hypoplasia of the skin | Aplasia/Hypoplasia of the thymus | Ataxia | Autosomal recessive inheritance | Bronchiectasis | Cafe-au-lait spot | Cellular immunodeficiency | Childhood onset | Choreoathetosis | Chronic diarrhea | Cognitive impairment | Conjunctival telangiectasia | Decreased circulating IgA concentration | Decreased circulating IgG concentration | Decreased circulating IgG2 concentration | Decreased circulating immunoglobulin concentration | Decreased total T cell count | Decreased total lymphocyte count | Defective B cell differentiation | Delayed puberty | Delayed speech and language development | Diabetes mellitus | Diminished deep tendon reflex | Dysarthria | Dysdiadochokinesis | Dystonia | Elevated circulating alpha-fetoprotein concentration | Elevated circulating hepatic transaminase concentration | Failure to thrive | Female hypogonadism | Gait disturbance | Glucose intolerance | Hodgkin lymphoma | Hypopigmentation of hair | Hypoplasia of the thymus | Immunodeficiency | Inability to walk | Intention tremor | Leukemia | Lymphoma | Microcephaly | Mucosal telangiectasiae | Multiple cafe-au-lait spots | Myoclonus | Neoplasm | Non-Hodgkin lymphoma | Nystagmus | Polycystic ovaries | Premature graying of hair | Prematurely aged appearance | Progressive cerebellar ataxia | Recurrent bronchitis | Recurrent lower respiratory tract infections | Recurrent respiratory infections | Seizure | Short stature | Sinusitis | Skeletal muscle atrophy | Slurred speech | Spasticity | Strabismus | Telangiectasia of the skin | Tremor | Type II diabetes mellitus" ], "symptoms_ja_list": [ "B 細胞分化障害 | B 細胞数の異常 | Hodgkin リンパ腫 | II 型糖尿病 | IgA欠乏症 | IgG欠乏症 | T リンパ球減少症 | α-フェトプロテイン上昇 | カフェオーレ斑 | ジストニア | ミオクローヌス | リンパ球減少症 | リンパ腫 | 不明瞭言語 | 企図振戦 | 低ガンマグロブリン血症 | 低身長 | 免疫グロブリン IgG2欠乏症 | 免疫不全 | 免疫系の異常 | 副鼻腔炎 | 反復性下気道感染症 | 反復性呼吸器感染症 | 反復性気管支炎 | 多嚢胞性卵巣 | 多発性カフェオーレ斑 | 女性性腺機能低下症 hypogonadism | 小頭 | 常染色体潜性遺伝 | 思春期遅発 | 急性リンパ性白血病 | 慢性下痢 | 成長障害 (成長不全) | 拮抗運動反復不全 | 振戦 | 斜視 | 新生物 | 早発性毛髪白髪 | 早老外観 | 染色体安定性の異常 | 構音障害 | 歩行不能 | 歩行障害 | 毛髪の異常 | 毛髪低色素 | 気管支拡張 | 痙性 | 発作 | 発語および言語発達遅延 | 白血病 | 皮膚毛細血管拡張 | 皮膚無形成/低形成 | 眼振 | 眼運動の異常 | 神経学的発語障害 | 筋萎縮 | 粘膜の毛細血管拡張 | 精子形成異常 | 精巣異常 | 糖尿病 | 細胞免疫不全 | 結膜毛細血管拡張 | 耐糖能異常 | 肝トランスアミナーゼ上昇 | 胸腺低形成 | 胸腺無形成/低形成 | 腱反射減少 | 舞踏病アテトーゼ | 認知障害 | 進行性小脳失調 | 運動の異常 | 運動失調 | 非Hodgkin リンパ腫" ] }, { "id": "NANDO:2200198", "label_en": "Congenital central hypoventilation syndrome", "label_ja": "先天性中枢性低換気症候群", "yomigana": "せんてんせいちゅうすうせいていかんきしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200198", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100032", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201325", "label_en": "Latent general myasthenia gravis", "label_ja": "潜在性全身型重症筋無力症", "yomigana": "せんざいせいぜんしんがたじゅうしょうきんむりょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201325", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100252", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201417", "label_en": "Wiedemann-Steiner syndrome", "label_ja": "ヴィーデマン・スタイナー症候群", "yomigana": "びーでまん・すたいなーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201417", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "2-3 toe syndactyly | Abnormal corpus callosum morphology | Abnormality of the elbow | Abnormality of the hand | Accelerated skeletal maturation | Aggressive behavior | Anxiety | Aplasia/Hypoplasia of the ribs | Atrial septal defect | Atypical behavior | Autism | Autosomal dominant inheritance | Blepharophimosis | Blue sclerae | Broad lateral eyebrow | Broad nasal tip | Broad-based gait | Bulbous nose | Childhood onset | Clinodactyly of the 5th finger | Congenital", "generalized hypertrichosis | Constipation | Contracture of the distal interphalangeal joint of the fingers | Cryptorchidism | Decreased response to growth hormone stimulation test | Delayed gross motor development | Delayed skeletal maturation | Delayed speech and language development | Depressed nasal tip | Dilatation of renal calices | Dolichocephaly | Downslanted palpebral fissures | Dysphagia | Elbow hypertrichosis | Epicanthus | Eversion of lateral third of lower eyelids | Exaggerated cupid's bow | Facial asymmetry | Failure to thrive | Feeding difficulties | Flat face | Gastroesophageal reflux | Generalized hirsutism | Generalized hypertrichosis | Global developmental delay | High forehead | High palate | Highly arched eyebrow | Hyperactivity | Hyperextensibility at elbow | Hypertelorism | Hypodontia | Hypotonia | Intellectual disability | Intrauterine growth retardation | Joint hypermobility | Long eyelashes | Long hallux | Long palpebral fissure | Long philtrum | Low frustration tolerance | Low posterior hairline | Low-set ears | Microcephaly | Micrognathia | Motor stereotypy | Patent ductus arteriosus | Pectus excavatum | Pes planus | Postnatal growth retardation | Prominent digit pad | Prominent forehead | Psychomotor deterioration | Ptosis | Recurrent otitis media | Rhizomelia | Round face | Sacral dimple | Scoliosis | Seizure | Short 5th finger | Short attention span | Short columella | Short middle phalanx of finger | Short nose | Short palpebral fissure | Short phalanx of finger | Short stature | Short toe | Sleep disturbance | Small hand | Strabismus | Synophrys | Tapered finger | Telecanthus | Thick eyebrow | Thick hair | Thin upper lip vermilion | Webbed neck | Wide nasal bridge | Wide nose" ], "symptoms_ja_list": [ "フラストレーション耐性低下 | 下眼瞼外側1/3の外反 | 不安 | 両眼隔離 | 丸い顔 | 仙骨部陥凹 | 低身長 | 便秘 | 停留精巣 | 側弯 | 先天性", "全身性多毛症 | 先細りの指 | 全般性発達遅滞 | 全身性多毛 | 全身性多毛症 | 内眼角外方偏位 | 内眼角贅皮 | 分厚い毛髪 | 分厚い眉毛 | 動脈管開存症 | 反復性中耳炎 | 嚥下障害 | 四肢近位短縮 | 多動 | 子宮内成長遅滞 | 小さい手 | 小頭 | 小顎 | 巨大腎杯症 | 常同行動 | 常染色体顕性遺伝 | 幅広い外側眉毛 | 幅広い鼻 | 幅広い鼻尖 | 幅広い鼻梁 | 幅広歩行 | 平坦な顔 | 後部毛髪線低位 | 心房中隔欠損 | 成長ホルモン欠乏症 | 成長障害 (成長不全) | 扁平足 | 手の異常 | 指の遠位指間(DIP)関節拘縮 | 攻撃的行動 | 斜視 | 減歯症 | 漏斗胸 | 球状の鼻 | 生後の成長遅滞 | 発作 | 発語および言語発達遅延 | 目立つ指趾パッド | 目立つ額 | 眼瞼下垂 | 眼瞼裂斜下 | 眼瞼裂狭小 | 睡眠障害 | 知的障害 | 短い指中節骨 | 短い指骨 | 短い注意期間 | 短い眼瞼裂 | 短い第5指 | 短い趾 | 短い鼻 | 短い鼻小柱 | 第2-3 合趾症 | 第5指弯指 | 筋緊張低下 | 粗大運動発達遅延 | 精神運動発達悪化 | 翼状頚 | 耳介低位 | 肋骨無形成/低形成 | 肘多毛症 | 肘異常 | 肘過伸展 | 胃食道逆流 | 脳梁の異常 | 自閉症 | 落ちくぼんだ鼻尖 | 薄い上口唇唇紅部 | 行動異常 | 誇張されたキューピッドの弓 | 連続眉毛 | 長い人中 | 長い母趾 | 長い眼瞼裂 | 長い睫毛 | 長頭 | 関節過動 | 青色胸膜 sclerae | 顔面非対称 | 食餌摂取障害 | 骨成熟促進 | 骨格骨化遅延 | 高い額 | 高位の弓形眉毛 | 高口蓋" ] }, { "id": "NANDO:2200426", "label_en": "Microscopic polyangiitis", "label_ja": "顕微鏡的多発血管炎", "yomigana": "けんびきょうてきたはつけっかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200426", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100153", "symptoms_en_list": [ "Abdominal pain | Abnormal retinal vascular morphology | Abnormal urine cytology | Anemia | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Chest pain | Congestive heart failure | Crescentic glomerulonephritis | Cutis marmorata | Diarrhea | Elevated erythrocyte sedimentation rate | Episcleritis | Epistaxis | Erythema | Fatigue | Fever | Gangrene | Gastrointestinal hemorrhage | Gastrointestinal infarctions | Glomerulonephritis | Glomerulopathy | Hematuria | Hemoptysis | Increased inflammatory response | Myalgia | Nausea and vomiting | Oliguria | Pancreatitis | Paresthesia | Pericarditis | Peripheral neuropathy | Peritonitis | Poor appetite | Renal insufficiency | Sinusitis | Skin rash | Skin ulcer | Subcutaneous hemorrhage | Subcutaneous nodule | Uveitis | Vasculitis | Venous thrombosis | Weight loss" ], "symptoms_ja_list": [ "うっ血性心不全 | ブドウ膜炎 | 上強膜炎 | 下痢 | 不整脈 | 乏尿 | 体重喪失 | 共通 | 副鼻腔炎 | 半月形糸球体腎炎 | 吐気と 嘔吐 | 喀血 | 壊疽 | 大理石皮膚 | 尿中細胞異常 | 心外膜炎 | 感覚異常 | 末梢神経ニューロパチー | 炎症反応増加 | 疲労 | 発熱 | 皮下出血 | 皮下結節 | 皮膚潰瘍 | 皮膚発疹 | 筋痛 | 糸球体症 | 糸球体腎炎 | 紅斑 | 網膜血管の異常 | 胃腸出血 | 胃腸梗塞 | 腎不全 | 腹痛 | 腹膜炎 | 膵炎 | 自己免疫 | 血尿 | 血管炎 | 貧血 | 赤沈値上昇 | 関節炎 | 関節痛 | 静脈血栓症 | 食思不振 | 鼻出血" ] }, { "id": "NANDO:2201513", "label_en": "Sodium channel myotonia", "label_ja": "ナトリウムチャネルミオトニー", "yomigana": "なとりうむちゃねるみおとにー", "url": "http://nanbyodata.jp/ontology/NANDO_2201513", "notificationNumber": "98", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100306", "symptoms_en_list": [ "Apneic episodes in infancy | Autosomal dominant inheritance | Elevated circulating creatine kinase activity | Handgrip myotonia | Muscle stiffness | Muscle weakness | Myalgia | Myotonia | Neonatal onset | Percussion myotonia | Skeletal muscle atrophy | Skeletal muscle hypertrophy | Stridor | Young adult onset" ], "symptoms_ja_list": [ "ミオトニア | 乳児期の無呼吸エピソード | 叩打性ミオトニア | 喘鳴 | 常染色体顕性遺伝 | 握手ミオトニア | 筋痛 | 筋硬直 | 筋肥大 | 筋萎縮 | 筋虚弱 | 血清 creatine phosphokinase上昇" ] }, { "id": "NANDO:1200924", "label_en": "obsolete IgG4-related disease", "label_ja": "obsolete IgG4関連疾患包括", "yomigana": "あいじーじー4かんれんしっかんほうかつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200924", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201017", "label_en": "Neuro-Behçet's Disease", "label_ja": "神経ベーチェット病", "yomigana": "しんけいべーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201017", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200214", "label_en": "Complete atrio-ventricular block", "label_ja": "完全房室ブロック", "yomigana": "かんぜんぼうしつぶろっく", "url": "http://nanbyodata.jp/ontology/NANDO_2200214", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100045", "symptoms_en_list": [ "Absent atrioventricular node | Atrial arrhythmia | Atrioventricular block | Autosomal recessive inheritance | Bradycardia | Cardiomyopathy | Congestive heart failure | Cyanosis | Endocardial fibroelastosis | Exercise intolerance | Fatigue | Feeding difficulties in infancy | First degree atrioventricular block | Hydrops fetalis | Hyperhidrosis | Intrauterine growth retardation | Mitral regurgitation | Myocardial calcification | Myocardial fibrosis | Oligohydramnios | Pallor | Patent ductus arteriosus | Patent foramen ovale | Pericardial effusion | Peripheral edema | Pleural effusion | Premature birth | Prolonged QTc interval | Second degree atrioventricular block | Syncope | Third degree atrioventricular block | Weak cry" ], "symptoms_ja_list": [ "1度房室ブロック | 2度房室ブロック | 3度房室ブロック | うっ血性心不全 | チアノーゼ | 僧帽弁逆流 | 動脈管開存症 | 卵円孔開存 | 原発性心房性不整脈 | 多汗 | 失心 | 子宮内成長遅滞 | 常染色体潜性遺伝 | 弱い泣き声 | 徐脈 | 心内膜線維弾性症 | 心外膜滲出液 | 心筋症 | 心筋石灰化 | 心筋線維症 | 房室ブロック | 房室結節欠損 | 早産 | 末梢性浮腫 | 疲労 | 羊水過少 | 胎児水腫 | 胸膜滲出液 | 蒼白 | 運動不耐症 | 遷延性 QTc 間隔 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200934", "label_en": "Occult macular dystrophy", "label_ja": "オカルト黄斑ジストロフィー", "yomigana": "おかるとおうはんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200934", "notificationNumber": "301", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Autosomal dominant inheritance | Juvenile onset | Macular dystrophy | Middle age onset | Slow decrease in visual acuity | Typified by age-related disease onset | Young adult onset" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 視力の緩徐な減少 | 黄斑ジストロフィー" ] }, { "id": "NANDO:1200072", "label_en": "Sandhoff disease", "label_ja": "サンドホフ病", "yomigana": "さんどほふびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200072", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal glycosphingolipid metabolism | Abnormality of movement | Ataxia | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Blindness | CNS hypomyelination | Cardiomegaly | Cherry red spot of the macula | Chronic diarrhea | Coarse facial features | Congestive heart failure | Death in childhood | Developmental regression | Dysarthria | Episodic abdominal pain | Exaggerated startle response | Failure to thrive | Fasciculations | Full cheeks | Hearing impairment | Hepatomegaly | Hepatosplenomegaly | Hyperhidrosis | Hyperreflexia | Hypohidrosis | Hypotonia | Impaired temperature sensation | Impotence | Infantile onset | Kyphosis | Macrocephaly | Macroglossia | Motor deterioration | Muscle weakness | Orthostatic hypotension | Progressive psychomotor deterioration | Recurrent respiratory infections | Seizure | Skeletal dysplasia | Skeletal muscle atrophy | Spasticity | Splenomegaly | Upper motor neuron dysfunction | Urinary incontinence" ], "symptoms_ja_list": [ "うっ血性心不全 | インポテンス | グリコスフィンゴリピド 代謝の異常 | 中枢神経髄鞘形成低下 | 全身性間代性強直性発作 | 反射亢進 | 反復性呼吸器感染症 | 多汗 | 大きな頬 | 大頭 | 巨舌 | 常染色体潜性遺伝 | 後弯 | 心拡大 | 慢性下痢 | 成長障害 (成長不全) | 構音障害 | 減汗症 | 温度覚障害 | 痙性 | 発作 | 発達退行 | 皮質脊髄路機能障害 | 盲 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗な顔貌 | 線維束性収縮 | 肝脾腫 | 肝腫 | 脾腫 | 腹痛エピソード | 誇張された驚愕反応 | 起立性低血圧 | 進行性精神運動発達悪化 | 運動の異常 | 運動失調 | 運動発達悪化 | 遺尿 | 難聴 | 骨格異形成 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:1200303", "label_en": "obsolete Fanconi anemia", "label_ja": "obsolete ファンコニ貧血", "yomigana": "ふぁんこにひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200303", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100075", "label_en": "Tetralogy of Fallot", "label_ja": "ファロー四徴症", "yomigana": "ふぁろーしちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100075", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100052", "label_en": "Ventricular fibrillation", "label_ja": "心室細動", "yomigana": "しんしつさいどう", "url": "http://nanbyodata.jp/ontology/NANDO_2100052", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200061", "label_en": "Niemann-Pick disease type A", "label_ja": "ニーマン・ピック病A型", "yomigana": "にーまん・ぴっくびょうえーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200061", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Ascites | Athetosis | Autosomal recessive inheritance | Bone-marrow foam cells | Cherry red spot of the macula | Constipation | Delayed CNS myelination | Developmental regression | Diffuse reticular or finely nodular infiltrations | Failure to thrive | Feeding difficulties in infancy | Foam cells with lamellar inclusion bodies | Global developmental delay | Hepatomegaly | Hyporeflexia | Hypotonia | Inability to walk | Infantile onset | Intellectual disability | Irritability | Lymphadenopathy | Macrocephaly | Microcytic anemia | Muscle weakness | Osteoporosis | Prolonged neonatal jaundice | Protuberant abdomen | Recurrent respiratory infections | Rigidity | Sea-blue histiocytosis | Short stature | Skeletal muscle atrophy | Spasticity | Splenomegaly | Vomiting | Xanthomatosis" ], "symptoms_ja_list": [ "びまん性網状または微細結節性浸潤 | アテトーゼ | リンパ節腫大 | 中枢神経髄鞘形成遅延 | 低身長 | 便秘 | 全般性発達遅滞 | 反射低下 | 反復性呼吸器感染症 | 嘔吐 | 大頭 | 小球性貧血 | 層状封入体を伴う泡沫細胞 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 歩行不能 | 海青組織球症 | 痙性 | 発達退行 | 知的障害 | 硬直 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 肝腫 | 脾腫 | 腹水 | 腹部突出 | 被刺激性 | 遷延性新生児黄疸 | 食餌摂取障害 in infancy | 骨粗鬆症 | 骨髄泡沫細胞 | 黄斑のチェリーレッド斑 | 黄色腫症" ] }, { "id": "NANDO:2100004", "label_en": "Lymphoma", "label_ja": "リンパ腫", "yomigana": "りんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2100004", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200481", "label_en": "Myotubular myopathy", "label_ja": "ミオチュブラーミオパチー", "yomigana": "みおちゅぶらーみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200481", "notificationNumber": "111", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200994", "label_en": "Sjögren-Larsson syndrome", "label_ja": "シェーグレン・ラルソン症候群", "yomigana": "しぇーぐれん・らるそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200994", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [ "Abnormal dental enamel morphology | Abnormal hair morphology | Abnormal nail morphology | Abnormal pyramidal sign | Abnormal retinal pigmentation | Abnormal speech pattern | Astigmatism | Autosomal recessive inheritance | CNS demyelination | Color vision defect | Congenital onset | Corneal erosion | Dry skin | Dysarthria | Enamel hypoplasia | Erythema | Flexion contracture | Generalized hyperpigmentation | Hyperkeratosis | Hypotonia | Ichthyosis | Inflammatory abnormality of the eye | Intellectual disability | Joint stiffness | Kyphosis | Macular degeneration | Microcephaly | Myopia | Opacification of the corneal epithelium | Photophobia | Reduced visual acuity | Retinal pigment epithelial atrophy | Retinopathy | Scoliosis | Seizure | Short stature | Skeletal dysplasia | Spastic diplegia | Spastic paraparesis | Spasticity | Thoracic kyphosis | Urticaria" ], "symptoms_ja_list": [ "中心視力減少 | 中枢神経脱髄 | 乱視 | 乾いた皮膚 | 低身長 | 側弯 | 全身性高色素 | 小頭 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弯 | 構音障害 | 歯エナメル質低形成 | 歯エナメル質異常 | 毛髪の異常 | 爪の異常 | 痙性 | 痙性両麻痺 | 痙性対不全麻痺 | 発作 | 眼の炎症性異常 | 知的障害 | 神経学的発語障害 | 筋緊張低下 | 紅斑 | 網膜症 | 網膜色素上皮喪失 | 網膜色素異常 | 羞明 | 胸部後弯 | 色覚異常 | 蕁麻疹 | 角膜びらん | 角膜上皮混濁形成 | 近視 | 過角化症 | 錐体路運動機能の異常 | 関節拘縮 | 骨格異形成 | 魚鱗癬 | 黄斑変性" ] }, { "id": "NANDO:1200334", "label_en": "ICF syndrome", "label_ja": "ICF症候群", "yomigana": "あいしーえふしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200334", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormality of chromosome stability | Abnormality of neutrophils | Anemia | Cellular immunodeficiency | Communicating hydrocephalus | Decreased circulating immunoglobulin concentration | Decreased total lymphocyte count | Depressed nasal bridge | Epicanthus | Flat face | Global developmental delay | Hypertelorism | Immunodeficiency | Intellectual disability | Low-set ears | Macrocephaly | Macroglossia | Malabsorption | Micrognathia | Protruding tongue | Recurrent respiratory infections | Short stature | Umbilical hernia" ], "symptoms_ja_list": [ "リンパ球減少症 | 両眼隔離 | 交通性水頭症 | 低ガンマグロブリン血症 | 低身長 | 免疫不全 | 全般性発達遅滞 | 内眼角贅皮 | 反復性呼吸器感染症 | 吸収障害 | 大頭 | 好中球の異常 | 小顎 | 巨舌 | 平坦な顔 | 染色体安定性の異常 | 知的障害 | 細胞免疫不全 | 耳介低位 | 臍ヘルニア | 舌挺出 | 落ちくぼんだ鼻梁 | 貧血" ] }, { "id": "NANDO:2200803", "label_en": "CD46 deficiency", "label_ja": "CD46欠損症", "yomigana": "しーでぃー46けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200803", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Acute kidney injury | Anemia | Anuria | Autosomal dominant inheritance | Autosomal recessive inheritance | Childhood onset | Decreased circulating complement C3 concentration | Elevated circulating creatinine concentration | Hematuria | Hemolytic-uremic syndrome | Hypertension | Increased blood urea nitrogen | Juvenile onset | Microangiopathic hemolytic anemia | Proteinuria | Thrombocytopenia" ], "symptoms_ja_list": [ "常染色体潜性遺伝 | 常染色体顕性遺伝 | 微小血管症性溶血性貧血 | 急性腎外傷 | 溶血性尿毒症候群症候群 | 無尿 | 蛋白尿 | 血中尿素窒素(BUN)増加 | 血小板減少 | 血尿 | 血清クレアチン症状 | 血清補体 C3減少 | 貧血 | 高血圧" ] }, { "id": "NANDO:1200383", "label_en": "obsolete Congenital hypogonadotropic hypogonadism", "label_ja": "obsolete 家族性ゴナドトロピン分泌低下症", "yomigana": "かぞくせいごなどとろぴんぶんぴつていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200383", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200656", "label_en": "Bernard-Soulier syndrome", "label_ja": "ベルナール・スーリエ症候群", "yomigana": "べるなーる・すーりえしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200656", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [ "Abnormal bleeding | Abnormal megakaryocyte morphology | Asthma | Autosomal recessive inheritance | Bruising susceptibility | Congenital onset | Decreased platelet glycoprotein Ib-IX-V | Epistaxis | Gastrointestinal hemorrhage | Giant platelets | Gingival bleeding | Hematemesis | Impaired ristocetin-induced platelet aggregation | Macroscopic hematuria | Menorrhagia | Migraine | Partially duplicated kidney | Petechiae | Prolonged bleeding after dental extraction | Prolonged bleeding after surgery | Prolonged bleeding time | Purpura | Seizure | Spontaneous hematomas | Spontaneous", "recurrent epistaxis | Thrombocytopenia" ], "symptoms_ja_list": [ "リストセチン誘発性血小板凝集障害 | 偏頭痛 | 出血傾向 | 吐血 | 喘息 | 巨大血小板 | 巨核球系細胞の異常 | 常染色体潜性遺伝 | 抜歯後の遷延性出血 | 月経痛 | 歯肉出血 | 点状出血 | 異常な出血 | 発作 | 紫斑 | 肉眼的血尿 | 胃腸出血 | 自然反復性鼻出血 | 自然血管腫 | 血小板減少 | 血小板糖タンパク Ib-IX-V の減少 | 術後の遷延性出血 | 遷出血時間遷延 | 部分的腎重複 | 鼻出血" ] }, { "id": "NANDO:1200269", "label_en": "Antiphospholipid antibody syndrome during pregnancy", "label_ja": "抗リン脂質抗体症候群合併妊娠", "yomigana": "こうりんししつこうたいしょうこうぐんがっぺいにんしん", "url": "http://nanbyodata.jp/ontology/NANDO_1200269", "notificationNumber": "48", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201357", "label_en": "X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type", "label_ja": "X染色体優性 Conradi-Hunermann型点状軟骨異形成症", "yomigana": "えっくすせんしょくたいゆうせいこんらーでぃひゅーねるまんがたてんじょうなんこついけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201357", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal hair pattern | Abnormal lung morphology | Abnormal nail morphology | Abnormal pelvic girdle bone morphology | Abnormal pinna morphology | Abnormal skull morphology | Abnormal thorax morphology | Abnormality of prenatal development or birth | Abnormality of the skin | Abnormally ossified vertebrae | Anomalous tracheal cartilage | Anterior rib punctate calcifications | Arachnoid cyst | Bilateral talipes equinovarus | Calcific stippling | Cataract | Coarse hair | Concave nasal ridge | Congenital ichthyosiform erythroderma | Congenital nonbullous ichthyosiform erythroderma | Congenital onset | Dandy-Walker malformation | Depressed nasal bridge | Downslanted palpebral fissures | Edema | Elevated 8(9)-cholestenol | Elevated 8-dehydrocholesterol | Epiphyseal stippling | Erythroderma | Facial asymmetry | Failure to thrive | Flat face | Flexion contracture | Frontal bossing | Glaucoma | Hearing impairment | Hemiatrophy | Hemivertebrae | High palate | Hip dislocation | Hydronephrosis | Hypertelorism | Hypoplastic cervical vertebrae | Ichthyosis | Kyphoscoliosis | Low-set ears | Lower limb asymmetry | Malar flattening | Microcornea | Microphthalmia | Moderate intellectual disability | Neonatal epiphyseal stippling | Neonatal hypoglycemia | Neuropathic spinal arthropathy | Nystagmus | Patchy alopecia | Patellar dislocation | Polyhydramnios | Postaxial polydactyly | Postnatal growth retardation | Punctate vertebral calcifications | Rhizomelia | Scarring alopecia of scalp | Scoliosis | Sensorineural hearing impairment | Severe postnatal growth retardation | Short neck | Short stature | Sparse eyelashes | Sparse hair | Stippled calcification in carpal bones | Talipes equinovarus | Tarsal stippling | Tracheal calcification | Tracheal stenosis | Upper limb asymmetry | Ventriculomegaly | X-linked dominant inheritance" ], "symptoms_ja_list": [ "8(9)-cholestenol 上昇 | 8-dehydrocholesterol 上昇 | Dandy-Walker 奇形 | X連鎖顕性遺伝 | くも膜嚢胞 | 上肢非対称 | 下肢非対称 | 両側性内反尖足 | 両眼隔離 | 低身長 | 側弯 | 先天性非水泡性魚鱗癬型紅皮症 | 先天性魚鱗癬型紅皮症 | 内反尖足 | 出生前または出生時発達の異常 | 前部肋骨点状石灰化 | 前頭突出", "額突出 | 半脊椎 | 四肢近位短縮 | 小眼球 | 小角膜 | 屈曲拘縮 | 平坦な頬 | 平坦な顔 | 後側弯 | 感音難聴 | 成長障害 (成長不全) | 手根骨の点状石灰化 | 斑状禿頭 | 新生児低血糖 | 新生児骨端点状石灰化 | 気管狭窄 | 気管石灰化 | 気管軟骨異常 | 水腎症 | 浮腫 | 点状石灰化 | 爪の異常 | 片側萎縮 | 生後の成長遅滞 | 異常な毛髪パターン | 疎な毛髪 | 疎な睫毛 | 白内障 | 皮膚の異常 | 眼振 | 眼瞼裂斜下 | 知的障害", "中道動脈瘤 | 短い頸部 | 窪んだ鼻梁 | 粗い毛髪 | 紅皮症 | 緑内障 | 羊水過多 | 耳介の異常 | 耳介低位 | 股関節脱臼 | 肺の異常 | 胸郭の異常 | 脊椎変形 | 脊椎点状石灰化 | 脊椎骨骨化異常 | 脳室拡大 | 膝蓋骨脱臼 | 落ちくぼんだ鼻梁 | 足根骨点状石灰化 | 軸後性多指趾症 | 重度の生後の成長遅滞 | 難聴 | 頚椎低形成 | 頭皮の瘢痕性禿頭 | 頭蓋骨の異常 | 顔面非対称 | 骨盤帯骨の形態異常 | 骨端点状石灰化 | 高口蓋 | 魚鱗癬" ] }, { "id": "NANDO:2200933", "label_en": "Progressive familial intrahepatic cholestasis", "label_ja": "進行性家族性肝内胆汁うっ滞症", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200933", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [ "Abnormality of coagulation | Abnormality of thrombocytes | Cholestasis | Cognitive impairment | Delayed skeletal maturation | Failure to thrive | Hepatomegaly | Hypocalcemia | Jaundice | Malabsorption | Neoplasm | Reduced bone mineral density | Short stature | Splenomegaly" ], "symptoms_ja_list": [ "低カルシウム血症 | 低身長 | 凝固の異常 | 吸収障害 | 成長障害 (成長不全) | 新生物 | 肝腫 | 胆汁うっ滞 | 脾腫 | 血小板の異常 | 認知障害 | 骨ミネラル濃度減少 | 骨格骨化遅延 | 黄疸" ] }, { "id": "NANDO:2201510", "label_en": "Thomsen disease", "label_ja": "トムゼン病", "yomigana": "とむぜんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201510", "notificationNumber": "98", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100306", "symptoms_en_list": [ "Autosomal dominant inheritance | Childhood onset | EMG: myotonic runs | Handgrip myotonia | Juvenile onset | Muscle stiffness | Muscle weakness | Myalgia | Myotonia | Myotonia with warm-up phenomenon | Percussion myotonia | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "ウォームアップ減少を伴うミオトニア | ミオトニア | 叩打性ミオトニア | 常染色体顕性遺伝 | 握手ミオトニア | 筋痛 | 筋硬直 | 筋肥大 | 筋虚弱 | 筋電図: ミオトニア反応" ] }, { "id": "NANDO:2200072", "label_en": "Sex-cord stromal tumour", "label_ja": "性索間質性腫瘍", "yomigana": "せいさくかんしつせいしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200072", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200082", "label_en": "Pancreatoblastoma", "label_ja": "膵芽腫", "yomigana": "すいがしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200082", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormal lymph node morphology | Diarrhea | Elevated maternal circulating alpha-fetoprotein concentration | Jaundice | Pancreatic calcification | Vomiting | Weight loss" ], "symptoms_ja_list": [ "リンパ節の異常 | 下痢 | 体重喪失 | 嘔吐 | 母体血清αフェトプロテイン高値 | 石灰化 | 腹痛 | 腹部膨満 | 黄疸" ] }, { "id": "NANDO:1200037", "label_en": "Spinocerebellar degeneration", "label_ja": "脊髄小脳変性症", "yomigana": "せきずいしょうのうへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200037", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200473", "label_en": "Maple syrup urine disease", "label_ja": "メープルシロップ尿症", "yomigana": "めーぷるしろっぷにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200473", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormality of the pharynx | Abnormality of the voice | Ataxia | Diminished deep tendon reflex | Elevated circulating branched chain amino acid concentration | Global developmental delay | Hemiplegia/hemiparesis | Hypotonia | Intellectual disability | Respiratory insufficiency | Seizure" ], "symptoms_ja_list": [ "全般性発達遅滞 | 呼吸不全 | 咽頭の異常 | 声の異常 | 片麻痺/片側不全麻痺 | 発作 | 知的障害 | 筋緊張低下 | 腱反射減少 | 血漿分子鎖アミノ酸上昇 | 運動失調" ] }, { "id": "NANDO:1200775", "label_en": "Hypoparathyroidism", "label_ja": "副甲状腺機能低下症", "yomigana": "ふくこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200775", "notificationNumber": "235", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200227", "label_en": "Neurofibromatosis type 2", "label_ja": "神経線維腫症II型", "yomigana": "しんけいせんいしゅしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200227", "notificationNumber": "34", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal cerebellum morphology | Abnormal optic nerve morphology | Abnormality of the eye | Amblyopia | Aphasia | Astrocytoma | Ataxia | Autosomal dominant inheritance | Axillary freckling | Bilateral vestibular schwannoma | Blindness | Brain stem compression | Cafe-au-lait spot | Cataract | Cortical cataract | Cranial nerve paralysis | Diplopia | Dysarthria | Dysphagia | Ependymoma | Epiretinal membrane | Facial palsy | Foot dorsiflexor weakness | Glioma | Headache | Hearing impairment | Hemiparesis | Hydrocephalus | Hyperesthesia | Hyperpigmentation of the skin | Intracranial meningioma | Juvenile posterior subcapsular lenticular opacities | Lisch nodules | Memory impairment | Meningioma | Mononeuropathy | Myelopathy | Neoplasm of the skin | Neurofibroma | Peripheral neuropathy | Peripheral schwannoma | Personality changes | Polyneuropathy | Posterior subcapsular cataract | Postural instability | Reduced visual acuity | Remnants of the hyaloid vascular system | Retinal hamartoma | Seizure | Sensorineural hearing impairment | Sensory neuropathy | Somatic sensory dysfunction | Spinal cord tumor | Spinal meningioma | Tinnitus | Unilateral vestibular schwannoma | Unsteady gait | Vertigo | Vestibular schwannoma | Visual loss | Young adult onset" ], "symptoms_ja_list": [ "Lisch 結節 | カフェオーレ斑 | ポリニューロパチー | ミエロパチー | モノニューロパチー | 上網膜核 | 上衣腫 | 不安定歩行 | 両側性前庭シュワン細胞腫 | 中心視力減少 | 前庭シュワン細胞腫 | 嚥下障害 | 失語症 | 姿勢不安定 | 小脳の異常 | 常染色体顕性遺伝 | 弱視 | 後嚢下白内障 | 性格変化 | 感覚ニューロパチー | 感覚障害 | 感音難聴 | 持続性過形成性一次硝子体 | 星状細胞腫 | 末梢神経シュワン細胞腫 | 末梢神経ニューロパチー | 構音障害 | 水頭症 | 片側不全麻痺 | 片側性前庭シュワン細胞腫 | 発作 | 白内障 | 皮膚新生物 | 皮膚高色素 | 皮質白内障 | 盲 | 眩暈 | 眼の異常 | 知覚過敏 | 神経線維腫 | 網膜過誤腫 | 耳鳴 | 脊椎髄膜腫 | 脊髄腫瘍 | 脳幹圧迫 | 脳神経麻痺 | 腋窩色素斑 | 膠腫 | 若年性後嚢下水晶体混濁 | 複視 | 視力喪失 | 視神経の異常 | 記憶障害 | 足背屈筋虚弱 | 運動失調 | 難聴 | 頭痛 | 頭蓋内髄膜腫 | 顔面麻痺 | 髄膜腫" ] }, { "id": "NANDO:1200002", "label_en": "Amyotrophic lateral sclerosis", "label_ja": "筋萎縮性側索硬化症", "yomigana": "きんいしゅくせいそくさくこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200002", "notificationNumber": "2", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Amyotrophic lateral sclerosis | Anxiety | Atypical behavior | Babinski sign | Cachexia | Cognitive impairment | Depression | Distal amyotrophy | Drooling | Dysarthria | Dysphagia | Dysphonia | Dyspnea | Emotional lability | Fasciculations | Fatigue | Foot dorsiflexor weakness | Frontotemporal dementia | Generalized muscle weakness | Hyperreflexia | Language impairment | Lower limb muscle weakness | Motor neuron atrophy | Muscle spasm | Neurodegeneration | Orthopnea | Pain | Paralysis | Progressive distal muscular atrophy | Respiratory failure | Skeletal muscle atrophy | Sleep disturbance | Spastic paraparesis | Spasticity | Steppage gait | Tongue atrophy | Tongue fasciculations | Upper limb muscle weakness | Weight loss | Xerostomia" ], "symptoms_ja_list": [ "Babinski サイン | うつ | 上肢筋虚弱 | 下肢筋虚弱 | 不安 | 体重喪失 | 全身性筋虚弱 | 前頭側頭葉認知症 | 反射亢進 | 口内乾燥症 | 呼吸不全 | 呼吸困難 | 嚥下障害 | 悪液質 (カヘキシー) | 情動不安定 | 構音障害 | 流涎 | 疲労 | 疼痛 | 痙性 | 痙性対不全麻痺 | 発音障害 | 睡眠障害 | 神経変性 | 筋けいれん | 筋萎縮 | 筋萎縮性側索硬化症 | 線維束性収縮 | 舌線維束性収縮 | 舌萎縮 | 行動異常 | 言語障害 | 認知障害 | 起坐呼吸 | 足背屈筋虚弱 | 進行性遠位筋萎縮 | 運動ニューロン萎縮/変性 | 遠位筋萎縮 | 鶏歩 | 麻痺" ] }, { "id": "NANDO:2201053", "label_en": "Multiple endocrine neoplasia type 2B", "label_ja": "MEN2B", "yomigana": "えむいーえぬ2びー", "url": "http://nanbyodata.jp/ontology/NANDO_2201053", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100148", "symptoms_en_list": [ "Aganglionic megacolon | Autosomal dominant inheritance | Colonic diverticula | Constipation | Diarrhea | Disproportionate tall stature | Elevated circulating calcitonin concentration | Elevated urinary epinephrine level | Failure to thrive in infancy | Ganglioneuroma | Generalized hypotonia | Global developmental delay | High palate | High", "narrow palate | Hyperlordosis | Hypotonia | Joint hypermobility | Kyphosis | Medullary thyroid carcinoma | Myopathy | Nodular goiter | Parathyroid hyperplasia | Pectus excavatum | Pes cavus | Pheochromocytoma | Proximal femoral epiphysiolysis | Scoliosis | Thick eyebrow | Thick lower lip vermilion" ], "symptoms_ja_list": [ "カルシトニン上昇 | ミオパチー | 下痢 | 不均衡型高身長 | 乳児期の成長障害 (成長不全) | 便秘 | 側弯 | 全般性発達遅滞 | 全身性筋緊張低下 | 凹足 | 分厚い下口唇唇紅部 | 分厚い眉毛 | 前弯 | 副甲状腺過形成 | 尿中エピネフリン上昇 | 常染色体顕性遺伝 | 後弯 | 漏斗胸 | 無神経節性巨大結腸 | 甲状腺髄様癌 | 神経節神経腫 | 筋緊張低下 | 結節性甲状腺腫 | 結腸憩室症 | 褐色細胞腫 | 近位大腿骨骨端融解 | 関節過動 | 高口蓋 | 高狭口蓋" ] }, { "id": "NANDO:1200733", "label_en": "obsolete Chronic diffuse moderate membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 中等度慢性・びまん型膜性増殖性糸球体腎炎", "yomigana": "ちゅうとうどまんせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200733", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201133", "label_en": "Infantile-onset carnitine palmitoyl transferase II deficiency", "label_ja": "乳児期発症型カルニチンパルミトイルトランスフェラーゼII欠損症", "yomigana": "にゅうじきはっしょうがたかるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201133", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Abnormal basal ganglia morphology | Abnormal brain morphology | Abnormality of neuronal migration | Agenesis of corpus callosum | Arrhythmia | Cardiomyopathy | Cerebellar vermis hypoplasia | Cerebral calcification | Cold-induced muscle cramps | Coma | Cystic renal dysplasia | Decreased plasma free carnitine | Decreased plasma total carnitine | Elevated circulating creatine kinase activity | Episodic abdominal pain | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced myalgia | Headache | Hepatic calcification | Hepatic failure | Hepatomegaly | Hydrocephalus | Hyperlipidemia | Hypoketotic hypoglycemia | Intermittent painful muscle spasms | Muscle weakness | Myalgia | Myoglobinuria | Myopathy | Neonatal respiratory distress | Pachygyria | Polycystic kidney dysplasia | Polymicrogyria | Reduced tissue carnitine O-palmitoyltransferase 2 activity | Renal tubular epithelial necrosis | Rhabdomyolysis | Seizure | Stage 5 chronic kidney disease | Tubulointerstitial nephritis" ], "symptoms_ja_list": [ "carnitine O-palmitoyltransferase 活性減少 | ステージ5慢性腎疾患 | ニューロン移動の異常 | ミオグロビン尿 | ミオパチー | 不整脈 | 低ケトン性低血糖 | 嚢胞性腎異形成 | 基底核の異常 | 多嚢胞性腎異形成 | 多小脳回 | 大脳石灰化 | 寒冷誘発性筋けいれん (こむらがえり) | 小脳虫部低形成 | 尿細管間質性腎炎 | 心筋症 | 急性尿細管壊死 | 新生児呼吸窮迫 | 昏睡 | 横紋筋融解 | 水頭症 | 発作 | 筋痛 | 筋虚弱 | 肝不全 | 肝石灰化 | 肝腫 | 脳回肥厚 | 脳形態の異常 | 脳梁無発生 of | 腹痛エピソード | 血清 creatine phosphokinase上昇 | 血漿フリーカルニチン減少 | 血漿総カルニチン減少 | 運動不耐症 | 運動誘発性筋けいれん | 運動誘発性筋痛 | 間歇的有痛性筋スパスム | 頭痛 | 高脂血症" ] }, { "id": "NANDO:2200286", "label_en": "Williams syndrome", "label_ja": "ウィリアムズ症候群", "yomigana": "うぃりあむずしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200286", "notificationNumber": "58", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100098", "symptoms_en_list": [ "Abdominal pain | Abnormal cardiac septum morphology | Abnormal carotid artery morphology | Abnormal cerebral vascular morphology | Abnormal circulating lipid concentration | Abnormal dental enamel morphology | Abnormal dental morphology | Abnormal dermatoglyphics | Abnormal diencephalon morphology | Abnormal endocardium morphology | Abnormal fingernail morphology | Abnormal gastric mucosa morphology | Abnormal nervous system morphology | Abnormal pelvic girdle bone morphology | Abnormal renal morphology | Abnormal social behavior | Abnormal speech pattern | Abnormal tubulointerstitial morphology | Abnormal vertebral body morphology | Abnormality of extrapyramidal motor function | Abnormality of refraction | Abnormality of the ankle | Abnormality of the bladder | Abnormality of the cardiovascular system | Abnormality of the neck | Abnormality of the voice | Adducted thumb | Amblyopia | Anteverted nares | Anxiety | Aortic arch aneurysm | Aplasia/Hypoplasia of the iris | Arterial stenosis | Arthralgia | Ataxia | Atrial septal defect | Atrophy/Degeneration involving the corticospinal tracts | Attention deficit hyperactivity disorder | Atypical behavior | Autism | Autosomal dominant inheritance | Bicuspid aortic valve | Bladder diverticulum | Blepharophimosis | Blue irides | Broad forehead | Broad nasal tip | Cardiomegaly | Carious teeth | Cataract | Celiac disease | Cerebellar hypoplasia | Cerebral cortical atrophy | Cerebral ischemia | Chiari malformation | Chiari type I malformation | Cholelithiasis | Chronic constipation | Chronic otitis media | Clinodactyly of the 5th finger | Coarse facial features | Colonic diverticula | Compulsive behaviors | Congestive heart failure | Constipation | Corneal opacity | Coronary artery stenosis | Cryptorchidism | Cutis laxa | Death in early adulthood | Delayed skeletal maturation | Dental malocclusion | Depressed nasal bridge | Depression | Developmental regression | Diabetes mellitus | Down-sloping shoulders | Dysarthria | Dysgraphia | Dysmetria | Dysphonia | Early onset of sexual maturation | Elevated circulating creatine kinase activity | Elfin facies | Enuresis | Epicanthus | Everted lower lip vermilion | Failure to thrive in infancy | Feeding difficulties in infancy | Flat cornea | Flexion contracture | Food intolerance | Full cheeks | Functional abnormality of male internal genitalia | Gait disturbance | Gait imbalance | Gastroesophageal reflux | Generalized hypotonia | Genu valgum | Gingival overgrowth | Glaucoma | Glucose intolerance | Hallux valgus | High forehead | High hypermetropia | Hoarse voice | Hyperacusis | Hypercalcemia | Hypercalciuria | Hyperlordosis | Hyperreflexia | Hypertension | Hypertrophic cardiomyopathy | Hypodontia | Hypogonadotropic hypogonadism | Hypoplasia of penis | Hypoplasia of the zygomatic bone | Hypoplastic toenails | Hypotelorism | Hypothyroidism | Hypotonia | Impaired visuospatial constructive cognition | Incoordination | Increased bone mineral density | Increased nuchal translucency | Inguinal hernia | Insomnia | Intellectual disability | Intrauterine growth retardation | Involuntary movements | Joint hypermobility | Joint stiffness | Kidney stone | Kyphoscoliosis | Kyphosis | Lacrimation abnormality | Large earlobe | Long philtrum | Macroglossia | Macrotia | Malabsorption | Malar flattening | Medial flaring of the eyebrow | Megalocornea | Microcephaly | Microdontia | Micrognathia | Micropenis | Midface retrusion | Mitral regurgitation | Mitral valve prolapse | Multiple renal cysts | Myocardial infarction | Myopathy | Myopia | Myxomatous mitral valve degeneration | Narrow face | Narrow forehead | Nausea and vomiting | Nephrocalcinosis | Nevus flammeus | Nystagmus-induced head nodding | Obesity | Obsessive-compulsive trait | Open bite | Open mouth | Osteopenia | Osteoporosis | Overfriendliness | Overriding aorta | Patellar dislocation | Patent ductus arteriosus | Pectus excavatum | Pelvic kidney | Peptic ulcer | Periorbital edema | Periorbital fullness | Peripheral pulmonary artery stenosis | Pes planus | Phonophobia | Pointed chin | Polycystic ovaries | Portal hypertension | Posterior embryotoxon | Posteriorly rotated ears | Precocious puberty | Premature graying of hair | Prematurely aged appearance | Proteinuria | Protruding ear | Pulmonic stenosis | Radioulnar synostosis | Rectal prolapse | Recurrent otitis media | Recurrent respiratory infections | Recurrent urinary tract infections | Redundant skin | Renal artery stenosis | Renal duplication | Renal hypoplasia | Renal insufficiency | Renovascular hypertension | Retinal arteriolar tortuosity | Sacral dimple | Scoliosis | Sensorineural hearing impairment | Short attention span | Short nose | Short stature | Sleep disturbance | Small nail | Soft skin | Spasticity | Spina bifida occulta | Strabismus | Stroke | Sudden cardiac death | Sudden death | Supravalvular aortic stenosis | Synostosis of joints | Tetralogy of Fallot | Thick lower lip vermilion | Tracheoesophageal fistula | Tremor | Type II diabetes mellitus | Umbilical hernia | Urethral stenosis | Ventricular septal defect | Vertebral segmentation defect | Vesicoureteral reflux | Visual impairment | Vocal cord paralysis | Wide mouth | Wide nasal bridge" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | Fallot 四徴症 | I 型Arnold-Chiari 奇形 | II 型糖尿病 | うっ血性心不全 | うつ | なで肩 | セリアック秒 | ミオパチー | 上向きの鼻孔 | 下口唇唇紅部外反 | 不均衡歩行 | 不安 | 不正咬合 | 不眠 | 不随意運動 | 両眼接近 | 乳児期の成長障害 (成長不全) | 二弁性大動脈弁 | 仙骨部陥凹 | 低ゴナドトロピン性性腺機能低下症 | 低身長 | 便秘 | 停留精巣 | 側弯 | 僧帽弁逆流 | 僧帽弁逸脱 | 光恐怖症 | 全身性筋緊張低下 | 内眼角贅皮 | 内転母指 | 冠動脈 狭窄 | 分厚い下口唇唇紅部 | 前弯 | 動脈狭窄 | 動脈管開存症 | 卒中 | 協調運動障害 | 反射亢進 | 反復性中耳炎 | 反復性呼吸器感染症 | 反復性尿路感染症 | 吐気と 嘔吐 | 吸収障害 | 嗄声 | 声の異常 | 声帯麻痺 | 外反母趾 | 外反膝 | 多嚢胞性卵巣 | 多発性腎嚢胞 | 大きな眼窩周囲 | 大きな耳朶 | 大きな頬 | 大動脈弓拡張 | 大動脈騎乗 | 大耳 | 大脳皮質萎縮 | 大脳虚血 | 大脳血管の異常 | 妖精顔貌 | 子宮内成長遅滞 | 小さい爪 | 小歯 | 小脳低形成 | 小陰茎 | 小頭 | 小顎 | 尖った下顎 | 尿細管間質異常 | 尿道狭窄 | 屈折率の異常 | 屈曲拘縮 | 巨大角膜 | 巨舌 | 常染色体顕性遺伝 | 幅広い口 | 幅広い額 | 幅広い鼻尖 | 幅広い鼻梁 | 平坦な角膜 | 平坦な頬 | 弁上性大動脈狭窄 | 弛緩性皮膚 | 弱視 | 強迫性形質 | 強迫性行動 | 後側弯 | 後弯 | 後部胎生環 | 心中隔 | 心内膜の異常 | 心室中隔欠損 | 心房中隔欠損 | 心拡大 | 心筋梗塞 | 心血管系 | 思春期早発 | 性成熟の早期開始 | 感音難聴 | 慢性中耳炎 | 慢性便秘 | 扁平足 | 指爪の異常 | 振戦 | 斜視 | 早発性毛髪白髪 | 早老外観 | 書字障害 | 末梢肺動脈狭窄 | 柔らかい皮膚 | 椎体骨形態異常 | 構音障害 | 橈尺骨癒合 | 歩行障害 | 歯エナメル質異常 | 歯形態異常 | 歯肉過成長 | 気管食道瘻 | 注意力欠陥多動性疾患 | 流涙異常 | 消化性潰瘍 | 減歯症 | 測定障害 | 漏斗胸 | 潜在性二分脊椎 | 火炎状母斑 | 狭い額 | 狭い顔 | 甲状腺機能低下症 | 男性内性器の機能異常 | 異常な皮膚紋理 | 異常な社会的行動 | 痙性 | 発達退行 | 発音障害 | 白内障 | 皮質脊髄路萎縮/変性 | 直腸逸脱 | 眉毛の内側フレア | 眼振誘発性うなずき運動 | 眼瞼裂狭小 | 眼窩周囲浮腫 | 睡眠障害 | 知的障害 | 短い注意期間 | 短い鼻 | 神経学的発語障害 | 神経系形態の異常 | 突然心臓死 | 第5指弯指 | 筋緊張低下 | 粗な顔貌 | 粘液腫性僧帽弁変性 | 糖尿病 | 結腸憩室症 | 網膜小動脈蛇行 | 緑内障 | 耐糖能異常 | 耳介後方回転 | 耳介聳立 | 聴覚過敏 | 肥大型心筋症 | 肥満 | 肺動脈狭窄 | 胃粘膜の異常 | 胃食道逆流 | 胆石症 | 脂質代謝の異常 | 脊椎分節異常 | 腎不全 | 腎低形成 | 腎動脈狭窄 | 腎形態異常 | 腎石灰化症 | 腎結石 | 腎血管性高血圧 | 腎重複 | 腹痛 | 膀胱尿管逆流 | 膀胱憩室 | 膀胱異常 | 膝蓋骨脱臼 | 臍ヘルニア | 自閉症 | 落ちくぼんだ鼻梁 | 虹彩無形成/低形成 | 蛋白尿 | 血清 creatine phosphokinase上昇 | 行動異常 | 視力障害 | 視空間建設的認知の障害 | 角膜混濁 | 足関節の異常 | 趾爪低形成 | 近視 | 運動失調 | 過剰な皮膚 | 遺尿 | 錐体外路運動機能の異常 | 長い人中 | 門脈圧亢進 | 開口 | 開放咬合 | 間脳の異常 | 関節拘縮 | 関節痛 | 関節過動 | 関節骨癒合症 | 陰茎低形成 | 青色虹彩 | 項部透過性増加 | 頬骨未発達 | 頸動脈の異常 | 頸部の異常 | 顔面中部後退 | 食物不耐性 | 食餌摂取障害 in infancy | 馴れ馴れしさ | 骨ミネラル濃度の増加 | 骨格骨化遅延 | 骨減少症 | 骨盤帯骨の形態異常 | 骨盤腎 | 骨粗鬆症 | 高い額 | 高カルシウム尿 | 高カルシウム血症 | 高度遠視 | 高血圧 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2201523", "label_en": "Kagami-Ogata syndrome", "label_ja": "鏡・緒方症候群", "yomigana": "かがみ・おがたしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201523", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormality of the cardiovascular system | Anteverted nares | Bell-shaped thorax | Blepharophimosis | Broad philtrum | Coat hanger sign of ribs | Constipation | Coxa valga | Depressed nasal bridge | Diastasis recti | Dysphagia | Feeding difficulties | Frontal bossing | Frontal hirsutism | Full cheeks | Global developmental delay | Hepatoblastoma | Inguinal hernia | Intellectual disability | Kyphoscoliosis | Large for gestational age | Large placenta | Laryngomalacia | Limitation of joint mobility | Micrognathia | Microtia | Omphalocele | Overgrowth | Polyhydramnios | Poor head control | Poor suck | Postnatal growth retardation | Premature birth | Pursed lips | Respiratory failure requiring assisted ventilation | Seizure | Short neck | Thoracic hypoplasia | Webbed neck" ], "symptoms_ja_list": [ "すぼめた口唇 | ベル型胸 | 上向きの鼻孔 | 便秘 | 全般性発達遅滞 | 前頭突出", "額突出 | 前頭部多毛 | 吸啜不全 | 喉頭軟化症 | 嚥下障害 | 在胎月齢より大きい児 | 外反股 | 大きな頬 | 大きな骨盤 | 小耳 | 小顎 | 幅広い人中 | 後側弯 | 心血管系 | 早産 | 生後の成長遅滞 | 発作 | 眼瞼裂狭小 | 知的障害 | 短い頸部 | 羊水過多 | 翼状頚 | 肋骨のコートハンガーサイン | 肝芽腫 | 胸郭低形成 | 腹直筋離開 | 臍帯ヘルニア | 落ちくぼんだ鼻梁 | 補助換気が必要な呼吸不全 | 過成長 | 関節運動制限 | 頸定不全 | 食餌摂取障害 | 鼠径ヘルニア" ] }, { "id": "NANDO:1201035", "label_en": "Creatine transporter deficiency", "label_ja": "クレアチントランスポーター欠損症", "yomigana": "くれあちんとらんすぽーたーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201035", "notificationNumber": "334", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal circulating creatine concentration | Aganglionic megacolon | Aggressive behavior | Ataxia | Athetosis | Attention deficit hyperactivity disorder | Autistic behavior | Axial hypotonia | Broad forehead | Broad-based gait | Cachexia | Chorea | Constipation | Delayed myelination | Delayed speech and language development | Dystonia | Exotropia | Failure to thrive | Feeding difficulties in infancy | Gait disturbance | Global developmental delay | Hyperactivity | Hypermetropia | Hypertonia | Hypoplasia of the corpus callosum | Hypotonia | Ileus | Infantile onset | Intellectual disability | Joint hypermobility | Long face | Malar flattening | Mandibular prognathia | Mask-like facies | Microcephaly | Midface retrusion | Motor delay | Motor stereotypy | Myopathic facies | Narrow face | Neonatal hypotonia | Open mouth | Pes cavus | Poor hand-eye coordination | Prolonged QT interval | Ptosis | Reduced social responsiveness | Redundant skin | Seizure | Self-mutilation | Short stature | Spasticity | Speech apraxia | Tall stature | Underfolded superior helices | Vomiting | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | アテトーゼ | イレウス | クレアチン代謝の異常lism | ジストニア | ミオパチー顔貌 | 下顎突出 | 仮面様顔貌 | 低身長 | 体幹の筋緊張低下 | 便秘 | 全般性発達遅滞 | 凹足 | 嘔吐 | 外斜視 | 多動 | 小頭 | 巻き込み不足の上部耳輪 | 常同行動 | 幅広い額 | 幅広歩行 | 平坦な頬 | 悪液質 (カヘキシー) | 成長障害 (成長不全) | 手-眼協調運動不全 | 攻撃的行動 | 新生児筋緊張低下 | 歩行障害 | 注意力欠陥多動性疾患 | 無神経節性巨大結腸 | 狭い顔 | 痙性 | 発作 | 発語および言語発達遅延 | 発語失行症 | 眼瞼下垂 | 知的障害 | 社会的相互関係障害 | 筋緊張亢進 | 筋緊張低下 | 脳梁低形成 | 自己切断 | 自閉性行動 | 舞踏病 | 運動失調 | 運動発達遅滞 | 過剰な皮膚 | 遠視 | 遷延性 QT 間隔 | 長い顔 | 開口 | 関節過動 | 顔面中部後退 | 食餌摂取障害 in infancy | 髄鞘形成遅延 | 高身長" ] }, { "id": "NANDO:2200658", "label_en": "Platelet secretion defects", "label_ja": "血小板放出機構異常症", "yomigana": "けっしょうばんほうしゅつきこういじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200658", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201492", "label_en": "Syringomyelia associated with type 2 Chiari malformation", "label_ja": "キアリ奇形2型を伴う脊髄空洞症", "yomigana": "きありきけい2がたをともなうせきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201492", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200500", "label_en": "Sodium channel myotonia", "label_ja": "ナトリウムチャネルミオトニー", "yomigana": "なとりうむちゃねるみおとにー", "url": "http://nanbyodata.jp/ontology/NANDO_1200500", "notificationNumber": "114", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Apneic episodes in infancy | Autosomal dominant inheritance | Elevated circulating creatine kinase activity | Handgrip myotonia | Muscle stiffness | Muscle weakness | Myalgia | Myotonia | Neonatal onset | Percussion myotonia | Skeletal muscle atrophy | Skeletal muscle hypertrophy | Stridor | Young adult onset" ], "symptoms_ja_list": [ "ミオトニア | 乳児期の無呼吸エピソード | 叩打性ミオトニア | 喘鳴 | 常染色体顕性遺伝 | 握手ミオトニア | 筋痛 | 筋硬直 | 筋肥大 | 筋萎縮 | 筋虚弱 | 血清 creatine phosphokinase上昇" ] }, { "id": "NANDO:1200057", "label_en": "Gaucher disease type 1", "label_ja": "ゴーシェ病1型", "yomigana": "ごーしぇびょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200057", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal pain | Abnormal bleeding | Abnormal pulmonary interstitial morphology | Abnormality of coagulation | Abnormality of the eye | Anemia | Anorexia | Aortic valve stenosis | Ascites | Autosomal recessive inheritance | Avascular necrosis | Biliary tract obstruction | Bone pain | Bruising susceptibility | Cholelithiasis | Cirrhosis | Decreased beta-glucocerebrosidase level | Decreased circulating HDL-C concentration | Decreased total leukocyte count | Delayed puberty | Delayed skeletal maturation | Depression | Dyspnea | Epistaxis | Erlenmeyer flask deformity of the femurs | Gingival bleeding | Growth delay | Hematuria | Hepatic failure | Hepatomegaly | Hepatosplenomegaly | Hyperpigmentation of the skin | Hypersplenism | Hypertension | Increased circulating ferritin concentration | Increased circulating immunoglobulin concentration | Macular atrophy | Mitral regurgitation | Multiple myeloma | Osteoarthritis | Osteolysis | Osteopenia | Osteoporosis | Pancytopenia | Parkinsonism | Pathologic fracture | Portal hypertension | Pulmonary arterial hypertension | Pulmonary infiltrates | Sensorimotor neuropathy | Short stature | Spinal cord compression | Splenic rupture | Splenomegaly | Thrombocytopenia | Vertebral compression fracture" ], "symptoms_ja_list": [ "β-グルコセレブロシダーゼタンパクと活性の減少 | うつ | パーキンソン症候群 | 低身長 | 僧帽弁逆流 | 凝固の異常 | 出血傾向 | 呼吸困難 | 多発性骨髄腫 | 大動脈弁狭窄 | 大腿骨のErlenmeyer フラスコ変形 | 常染色体潜性遺伝 | 思春期遅発 | 感覚運動ニューロパチー | 成長遅滞 | 歯肉出血 | 汎血球減少症 | 無菌性壊死 | 異常な出血 | 病的骨折 | 白血球減少症 | 皮膚高色素 | 眼の異常 | 肝不全 | 肝硬変 | 肝脾腫 | 肝腫 | 肺浸潤 | 肺高血圧 | 胆石症 | 胆管閉塞 | 脊椎圧迫骨折 | 脊髄圧迫 | 脾機能亢進 | 脾破裂 | 脾腫 | 腹水 | 腹痛 | 血小板減少 | 血尿 | 血清フェリチン増加 | 貧血 | 門脈圧亢進 | 間質性肺疾患 | 非炎症性黄斑萎縮 | 食思不振 | 骨格骨化遅延 | 骨減少症 | 骨痛 | 骨粗鬆症 | 骨融解 | 骨関節炎 | 高αリポ蛋白血症 | 高ガンマグロブリン血症 | 高血圧 | 鼻出血" ] }, { "id": "NANDO:2100270", "label_en": "obsolete Congenital absence of portal vein", "label_ja": "obsolete 先天性門脈欠損症", "yomigana": "せんてんせいもんみゃくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100270", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201105", "label_en": "Methylmalonic acidemia cblA type", "label_ja": "コバラミン代謝異常 cblA", "yomigana": "こばらみんたいしゃいじょう しーびーえるえー", "url": "http://nanbyodata.jp/ontology/NANDO_2201105", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Anemia | Autosomal recessive inheritance | Brisk reflexes | Coma | Decreased circulating adenosylcobalamin concentration | Decreased methylmalonyl-CoA mutase activity | Decreased total neutrophil count | Dehydration | Failure to thrive | Feeding difficulties in infancy | Generalized hypotonia | Global developmental delay | Hepatomegaly | Hyperammonemia | Hyperglycinemia | Hypotonia | Infantile onset | Ketonuria | Ketosis | Lethargy | Metabolic acidosis | Methylmalonic acidemia | Methylmalonic aciduria | Pancytopenia | Respiratory distress | Seizure | Thrombocytopenia | Tremor | Vomiting" ], "symptoms_ja_list": [ "methylmalonyl-CoA mutase 活性の減少 | アデノシルコバラミンの減少 | ケトン尿 | ケトン症 | メチルマロン酸尿 | メチルマロン酸血症 | 代謝性アシドーシス | 全般性発達遅滞 | 全身性筋緊張低下 | 反射活発 | 呼吸窮迫 | 嘔吐 | 好中球減少症 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 振戦 | 昏睡 | 汎血球減少症 | 無気力 | 発作 | 筋緊張低下 | 肝腫 | 脱水 | 血小板減少 | 貧血 | 食餌摂取障害 in infancy | 高アンモニア血症 | 高グリシン血症" ] }, { "id": "NANDO:1200871", "label_en": "Fibrodysplasia ossificans progressiva", "label_ja": "進行性骨化性線維異形成症", "yomigana": "しんこうせいこっかせいせんいいけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200871", "notificationNumber": "272", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal femoral neck morphology | Abnormal hallux morphology | Abnormal thumb morphology | Abnormal vertebral morphology | Abnormality of the first metatarsal bone | Alopecia | Anemia | Aplasia/Hypoplasia of the phalanges of the hallux | Autosomal dominant inheritance | Basal ganglia calcification | Broad femoral neck | Clinodactyly of the 5th finger | Conductive hearing impairment | Congenital onset | Deep venous thrombosis | Delayed skeletal maturation | Ectopic ossification | Ectopic ossification in ligament tissue | Ectopic ossification in muscle tissue | Ectopic ossification in tendon tissue | Elevated circulating alkaline phosphatase concentration | Failure to thrive | Fused cervical vertebrae | Glaucoma | Hallux valgus | Hamartoma | Hearing impairment | Hip dysplasia | Increased susceptibility to fractures | Intellectual disability | Kidney stone | Limitation of joint mobility | Limitation of neck motion | Lymphedema | Metaphyseal widening | Mild intellectual disability | Progressive cervical vertebral spine fusion | Respiratory failure | Respiratory insufficiency | Scoliosis | Seizure | Sensorineural hearing impairment | Short 1st metacarpal | Short hallux | Small cervical vertebral bodies | Spinal rigidity | Subcutaneous nodule | Synostosis of joints | Widely spaced teeth" ], "symptoms_ja_list": [ "アルカリホスファターゼ上昇 | リンパ性浮腫 | 伝音難聴 | 側弯 | 呼吸不全 | 基底核石灰化 | 外反母趾 | 大腿骨頸部の異常 | 小さい頚椎椎体骨 | 常染色体顕性遺伝 | 幅広い大腿骨頸部 | 感音難聴 | 成長障害 (成長不全) | 易骨折性の増加 | 歯間隔離 | 母指の異常 | 母趾の異常 | 母趾趾骨無形成/低形成 | 深部静脈血栓症 | 異所性骨化 | 発作 | 皮下結節 | 知的障害 | 知的障害", "軽度 | 短い母趾 | 短い第1中手骨 | 禿頭 | 第1中足骨の異常 | 第5指弯指 | 筋組織の異所性骨化 | 緑内障 | 股関節異形成 | 脊椎の異常 | 脊椎強直 | 腎結石 | 腱組織の異所性骨化 | 貧血 | 進行性頚椎癒合 | 過誤腫 | 関節運動制限 | 関節骨癒合症 | 難聴 | 靭帯組織の異所性骨化 | 頚椎癒合 | 頸部運動制限 | 骨幹端拡大 | 骨格骨化遅延" ] }, { "id": "NANDO:2100263", "label_en": "immune-mediated liver diseases", "label_ja": "免疫性肝疾患", "yomigana": "めんえきせいかんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100263", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201418", "label_en": "Cohen syndrome", "label_ja": "コーエン症候群", "yomigana": "こーえんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201418", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Abnormal eyelash morphology | Abnormal eyelid morphology | Abnormal hip bone morphology | Abnormal retinal pigmentation | Abnormal skin pigmentation | Abnormal speech pattern | Abnormality of the dentition | Aplasia/Hypoplasia of the earlobes | Aplasia/Hypoplasia of the tongue | Arachnodactyly | Autistic behavior | Autosomal recessive inheritance | Bull's eye maculopathy | Cat cry | Cerebellar hypoplasia | Childhood-onset truncal obesity | Chorioretinal dystrophy | Clinodactyly of the 5th finger | Convex nasal ridge | Cryptorchidism | Cubitus valgus | Decreased fetal movement | Decreased response to growth hormone stimulation test | Decreased total leukocyte count | Decreased total neutrophil count | Delayed puberty | Delayed speech and language development | Downslanted palpebral fissures | Facial hypotonia | Failure to thrive in infancy | Feeding difficulties in infancy | Finger syndactyly | Genu valgum | Gingival overgrowth | Global developmental delay | High", "narrow palate | Hypoplasia of the maxilla | Hypoplasia of the zygomatic bone | Hypotonia | Intellectual disability | Intrauterine growth retardation | Iris coloboma | Joint hypermobility | Kyphosis | Laryngomalacia | Long eyelashes | Low anterior hairline | Lumbar hyperlordosis | Macrodontia | Macrodontia of permanent maxillary central incisor | Microcephaly | Micrognathia | Microphthalmia | Mitral valve prolapse | Motor delay | Myopia | Narrow foot | Narrow palate | Narrow palm | Neonatal hypotonia | Neonatal onset | Nyctalopia | Nystagmus | Obesity | Open mouth | Optic atrophy | Pectus excavatum | Pes planus | Pigmentary retinopathy | Poor suck | Preauricular skin tag | Prominent eyelashes | Prominent nasal bridge | Reduced visual acuity | Sandal gap | Scoliosis | Seizure | Sensorineural hearing impairment | Short metacarpal | Short metatarsal | Short philtrum | Short stature | Single transverse palmar crease | Slender toe | Small for gestational age | Spicular pigmentation of the retina | Strabismus | Tapered finger | Thick corpus callosum | Thick eyebrow | Thick hair | Thick vermilion border | Thoracic scoliosis | Tooth agenesis | Truncal obesity | Ventricular septal defect | Visual impairment | Weak cry" ], "symptoms_ja_list": [ "くも指 | コロボーマ | サンダルギャップ | 上顎低形成 | 中心視力減少 | 乳児期の成長障害 (成長不全) | 低い前部毛髪線 | 低身長 | 体幹肥満 | 停留精巣 | 側弯 | 僧帽弁逸脱 | 先細りの指 | 全般性発達遅滞 | 凸の鼻梁 | 分厚い唇紅部縁 | 分厚い毛髪 | 分厚い眉毛 | 分厚い脳梁 | 合指症 | 吸啜不全 | 喉頭軟化症 | 在胎月齢より小さい児 | 外反肘 | 外反膝 | 夜盲症 | 好中球減少症 | 子宮内成長遅滞 | 寛骨の異常 | 小児期発症体幹肥満 | 小眼球 | 小脳低形成 | 小頭 | 小顎 | 巨大歯 | 常染色体潜性遺伝 | 弱い泣き声 | 後弯 | 心室中隔欠損 | 思春期遅発 | 感音難聴 | 成長ホルモン欠乏症 | 扁平足 | 手掌横線 | 斜視 | 新生児筋緊張低下 | 歯の異常 | 歯数の減少 number of teeth | 歯肉過成長 | 永久歯上顎門歯の巨大歯 | 漏斗胸 | 牛眼黄斑症 | 狭い口蓋 | 狭い手掌 | 狭い足 | 猫泣き | 発作 | 発語および言語発達遅延 | 白血球減少症 | 皮膚色素の異常 | 目立つ睫毛 | 目立つ鼻梁 | 眼振 | 眼瞼の異常 | 眼瞼裂斜下 | 睫毛の異常 | 知的障害 | 短い中手骨 | 短い中足骨 | 短い人中 | 神経学的発語障害 | 第5指弯指 | 筋緊張低下 | 細い趾 | 網膜色素異常 | 耳介前皮膚肉柱 | 耳朶無形成/低形成 | 肥満 | 胎動減少 | 胸部側弯 | 脈絡膜網膜ジストロフィー | 腰椎前弯 hyperlordosis | 自閉性行動 | 舌の無形成/低形成 | 色素性網膜症 | 視力障害 | 視神経萎縮 | 近視 | 運動発達遅滞 | 長い睫毛 | 開口 | 関節過動 | 頬骨未発達 | 顔面筋緊張低下 | 食餌摂取障害 in infancy | 骨小棘色素性網膜症 | 高狭口蓋" ] }, { "id": "NANDO:1200405", "label_en": "NR5A1 abnormality", "label_ja": "NR5A1異常症", "yomigana": "えぬあーる5えー1いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200405", "notificationNumber": "82", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Ambiguous genitalia | Clitoral hypertrophy | Elevated circulating follicle stimulating hormone level | Elevated circulating luteinizing hormone level | Gonadal dysgenesis | Hypoplasia of the uterus | Penoscrotal hypospadias | Sex reversal | Sex-limited expression" ], "symptoms_ja_list": [ "卵胞刺激ホルモン上昇 | 子宮低形成 | 性別不明の外性器 | 性腺異発生 | 性逆転 | 限性常染色体顕性 | 陰核肥大 | 陰茎陰嚢尿道下裂 | 黄体形成ホルモン上昇" ] }, { "id": "NANDO:2200543", "label_en": "Glycogen storage disease type VII", "label_ja": "糖原病VII型", "yomigana": "とうげんびょう7がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200543", "notificationNumber": "68", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Anemia | Autosomal recessive inheritance | Childhood onset | Cholelithiasis | Easy fatigability | Elevated circulating aldolase concentration | Elevated circulating creatine kinase activity | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced muscle fatigue | Exercise-induced muscle stiffness | Exercise-induced myalgia | Exercise-induced myoglobinuria | Gout | Hematuria | Hemolytic anemia | Hyperuricemia | Increased muscle glycogen content | Increased total bilirubin | Increased variability in muscle fiber diameter | Jaundice | Juvenile onset | Muscle weakness | Myalgia | Myotonia | Reticulocytosis | Skeletal muscle atrophy" ], "symptoms_ja_list": [ "アルドラーゼ値上昇 | ミオトニア | 常染色体潜性遺伝 | 易疲労性 | 溶血性貧血 | 筋グリコーゲン量増加 | 筋痛 | 筋線維直径の多様性増加 | 筋萎縮 | 筋虚弱 | 網状赤血球増多症 | 総ビリルビン増加 | 胆石症 | 血尿 | 血清 creatine phosphokinase上昇 | 貧血 | 通風 | 運動不耐症 | 運動誘発性ミオグロビン尿 | 運動誘発性筋けいれん | 運動誘発性筋疲労 | 運動誘発性筋痛 | 運動誘発性筋硬直 | 高尿酸血症 | 黄疸" ] }, { "id": "NANDO:1200622", "label_en": "Dorfman-Chanarin syndrome", "label_ja": "ドルフマン・シャナリン症候群", "yomigana": "どるふまん・しゃなりんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200622", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal granulocyte morphology | Abnormality of blood and blood-forming tissues | Alopecia | Areflexia | Ataxia | Autosomal recessive inheritance | Cardiomyopathy | Central nervous system degeneration | Congenital nonbullous ichthyosiform erythroderma | EMG: myopathic abnormalities | Eclabion | Ectropion | Elevated circulating hepatic transaminase concentration | Everted lower lip vermilion | Gait disturbance | Global developmental delay | Hepatic steatosis | Hepatomegaly | Hypertriglyceridemia | Increased CSF protein concentration | Increased intramyocellular lipid droplets | Intellectual disability | Ketosis | Micronodular cirrhosis | Microtia | Muscle weakness | Myopathy | Nystagmus | Obesity | Progressive proximal muscle weakness | Ptosis | Sensorineural hearing impairment | Short stature | Shoulder girdle muscle weakness | Small earlobe | Strabismus | Subcapsular cataract" ], "symptoms_ja_list": [ "ケトン症 | ミオパチー | 下口唇唇紅部外反 | 中枢神経変性 | 低身長 | 先天性非水泡性魚鱗癬型紅皮症 | 全般性発達遅滞 | 口唇外反 | 嚢下白内障 | 外反(眼瞼) | 小さい耳朶 | 小結節性肝硬変 | 小耳 | 常染色体潜性遺伝 | 心筋症 | 感音難聴 | 斜視 | 歩行障害 | 無反射 | 眼振 | 眼瞼下垂 | 知的障害 | 禿頭 | 筋細胞内脂肪滴増加 | 筋虚弱 | 筋電図: ミオパチー異常 | 肝トランスアミナーゼ上昇 | 肝腫 | 肥満 | 肩帯筋虚弱 | 脂肪肝 | 血液および血液痙性組織の異常 | 進行性近位筋虚弱 | 運動失調 | 顆粒球の異常 | 髄液タンパクの増加 | 高トリグリセリド血症" ] }, { "id": "NANDO:2201015", "label_en": "Enchondromatosis", "label_ja": "内軟骨腫症", "yomigana": "ないなんこつしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201015", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal bone structure | Abnormal carpal morphology | Abnormal cartilage morphology | Abnormal femur morphology | Abnormal fibula morphology | Abnormal hand morphology | Abnormal long bone morphology | Abnormal metaphysis morphology | Abnormal tibia morphology | Abnormality of the knee | Abnormality of the tarsal bones | Arthritis | Asymmetric growth | Autosomal dominant inheritance | Bone pain | Bowing of the long bones | Cervical myelopathy | Chest pain | Chondrosarcoma | Coxa valga | Cranial nerve paralysis | Cubitus valgus | Deformed forearm bones | Deformed radius | Dysphagia | Facial asymmetry | Forearm undergrowth | Functional motor deficit | Genu valgum | Genu varum | Hemangioma | Hemothorax | Intestinal obstruction | Joint stiffness | Limb undergrowth | Limitation of joint mobility | Limitation of knee mobility | Limited hip movement | Lower limb asymmetry | Lymphangioma | Madelung deformity | Metaphyseal widening | Micromelia | Multiple enchondromatosis | Myalgia | Neoplasm | Neuropathic spinal arthropathy | Osteolysis | Pain | Pathologic fracture | Peripheral nerve compression | Pneumothorax | Rib exostoses | Sarcoma | Scapular exostoses | Scoliosis | Short long bone | Short lower limbs | Short metacarpal | Short stature | Skin ulcer | Somatic sensory dysfunction | Spinal cord compression | Subcutaneous nodule | Syringomyelia | Talipes valgus | Tethered cord | Upper limb asymmetry | Urinary retention | Venous thrombosis | Visceral angiomatosis" ], "symptoms_ja_list": [ "Made肺変形 | リンパ管腫 | 上肢非対称 | 下肢非対称 | 低身長 | 係留脊髄 | 側弯 | 共通 | 内反膝 | 内臓血管腫症 | 前腕成長不良 | 嚥下障害 | 四肢成長不全 | 変形した前腕骨 | 変形した橈骨 | 外反肘 | 外反股 | 外反膝 | 外反足 | 多発性内軟骨腫症 | 大腿骨の異常 | 小肢症 | 尿閉 | 常染色体顕性遺伝 | 感覚障害 | 手形態異常 | 手根骨の異常 | 新生物 | 末梢神経神経圧迫 | 機能的筋異常 | 気胸 | 疼痛 | 病的骨折 | 皮下結節 | 皮膚潰瘍 | 短い下肢 | 短い中手骨 | 短い長管骨 | 筋痛 | 肉腫 | 肋骨外骨症 | 股関節運動制限 | 肩甲骨外骨症 | 脊椎変形 | 脊髄圧迫 | 脊髄空洞症 | 脛骨の異常 | 脳神経麻痺 | 腓骨の異常 | 腸閉塞 | 膝の異常 | 膝運動制限 | 血性胸郭 | 血管腫 | 足根骨の異常 | 軟骨形態異常 | 軟骨肉腫 | 長管骨形態の異常 | 長管骨湾曲 | 関節拘縮 | 関節炎 | 関節運動制限 | 静脈血栓症 | 非対称性成長 | 頚髄ミエロパチー | 顔面非対称 | 骨幹端の異常 | 骨幹端拡大 | 骨構造異常 | 骨痛 | 骨融解" ] }, { "id": "NANDO:2200794", "label_en": "Ficolin 3 Deficiency", "label_ja": "Ficolin3 関連免疫不全症", "yomigana": "ふぃこりん3かんれんめんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200794", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Recurrent Staphylococcus aureus infection | Recurrent abscess formation | Recurrent lower respiratory tract infections | Verrucae" ], "symptoms_ja_list": [ "反復性下気道感染症 | 反復性膿瘍形成 | 反復性黄色ブドウ球菌感染症 | 常染色体潜性遺伝 | 疣贅" ] }, { "id": "NANDO:2200251", "label_en": "Tricuspid atresia", "label_ja": "三尖弁閉鎖症", "yomigana": "さんせんべんへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200251", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100073", "symptoms_en_list": [ "Atrial septal defect | Coarctation of aorta | Cyanosis | Hypoplasia of right ventricle | Patent foramen ovale | Persistent left superior vena cava | Pulmonary artery atresia | Transposition of the great arteries | Tricuspid atresia | Ventricular septal defect" ], "symptoms_ja_list": [ "チアノーゼ | 三尖弁閉鎖 | 低形成 of right ventricle | 卵円孔開存 | 大動脈縮窄 | 大血管転位 | 心室中隔欠損 | 心房中隔欠損 | 持続性左上大静脈 | 肺動脈閉鎖" ] }, { "id": "NANDO:2200098", "label_en": "Chordoma", "label_ja": "脊索腫", "yomigana": "せきさくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200098", "notificationNumber": "62", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Astrocytoma | Autosomal dominant inheritance | Chordoma | Juvenile onset | Late onset | Middle age onset | Young adult onset" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 星状細胞腫 | 脊索腫" ] }, { "id": "NANDO:2200165", "label_en": "Lumber ectopic kidney", "label_ja": "腰部変位腎", "yomigana": "ようぶへんいじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200165", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200687", "label_en": "Smith-Magenis syndrome", "label_ja": "スミス・マギニス症候群", "yomigana": "すみす・まぎにすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200687", "notificationNumber": "202", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal forearm morphology | Abnormal heart morphology | Abnormal localization of kidney | Abnormal middle ear morphology | Abnormal pineal melatonin secretion | Abnormal renal morphology | Abnormal speech pattern | Abnormal tracheobronchial morphology | Abnormality of the dentition | Abnormality of the eye | Abnormality of the genitourinary system | Abnormality of the immune system | Abnormality of the larynx | Abnormality of the outer ear | Abnormality of the thyroid gland | Abnormality of the ureter | Abnormality of the urinary system | Anteverted nares | Anxiety | Aplasia/Hypoplasia of the corpus callosum | Areflexia | Arrhythmia | Attention deficit hyperactivity disorder | Atypical behavior | Autosomal dominant inheritance | Brachycephaly | Brachydactyly | Broad face | Broad forehead | Broad palm | Chronic otitis media | Cleft palate | Cleft upper lip | Clinodactyly of the 5th finger | Coarse facial features | Cognitive impairment | Conductive hearing impairment | Constipation | Decreased circulating IgA concentration | Decreased fetal movement | Deeply set eye | Delayed eruption of primary teeth | Delayed puberty | Delayed speech and language development | Depressed nasal bridge | Downturned corners of mouth | EEG abnormality | Everted upper lip vermilion | Failure to thrive | Failure to thrive in infancy | Feeding difficulties in infancy | Frontal bossing | Gait disturbance | Gastroesophageal reflux | Generalized hypotonia | Generalized non-motor (absence) seizure | Global developmental delay | Hand polydactyly | Head-banging | Hearing impairment | Hoarse voice | Hyperactivity | Hyperacusis | Hypercholesterolemia | Hypertelorism | Hypertriglyceridemia | Hyporeflexia | Hypothyroidism | Hypotonia | Impaired pain sensation | Impulsivity | Increased body weight | Intellectual disability | Joint stiffness | Large face | Malar flattening | Mandibular prognathia | Microcephaly | Microcornea | Micrognathia | Midface retrusion | Mild global developmental delay | Motor delay | Motor stereotypy | Myopia | Neonatal onset | Obesity | Open mouth | Orofacial cleft | Pain insensitivity | Peripheral neuropathy | Pes planus | Precocious puberty | Prominent forehead | Recurrent otitis media | Recurrent upper respiratory tract infections | Renal hypoplasia/aplasia | Retinal detachment | Scoliosis | Seizure | Self-injurious behavior | Self-mutilation | Short middle phalanx of the 5th finger | Short nose | Short palm | Short philtrum | Short stature | Sleep apnea | Sleep disturbance | Sleep-wake cycle disturbance | Spontaneous pneumothorax | Sporadic | Square face | Strabismus | Synophrys | Taurodontia | Tented upper lip vermilion | Toe syndactyly | Truncal obesity | Upslanted palpebral fissure | Velopharyngeal insufficiency | Ventriculomegaly | Wide nasal bridge" ], "symptoms_ja_list": [ "IgA欠乏症 | テント状上口唇唇紅部 | 上口唇唇紅部外反 | 上口唇裂 | 上向きの鼻孔 | 下顎突出 | 不安 | 不整脈 | 両眼隔離 | 中耳の形態異常 | 乳児期の成長障害 (成長不全) | 乳歯萠出遅延 | 伝音難聴 | 低身長 | 体幹肥満 | 体重増加 | 便秘 | 側弯 | 免疫系の異常 | 全般性発達遅滞 | 全身性筋緊張低下 | 前腕の異常 | 前頭突出", "額突出 | 反射低下 | 反復性上気道感染症 | 反復性中耳炎 | 口腔裂 | 口蓋帆咽頭不全 | 口蓋裂 | 口角下垂 | 合趾症 | 喉頭の異常 | 嗄声 | 四角い顔 | 外耳の異常 | 多動 | 多指症 | 大きな顔 | 孤発性 | 小角膜 | 小頭 | 小顎 | 尿管異常 | 尿路異常 | 常同行動 | 常染色体顕性遺伝 | 幅広い手掌 | 幅広い額 | 幅広い顔 | 幅広い鼻梁 | 平坦な頬 | 循環器系の形態異常 | 心形態の異常 | 思春期早発 | 思春期遅発 | 慢性中耳炎 | 成長障害 (成長不全) | 扁平足 | 斜視 | 末梢神経ニューロパチー | 欠神発作 | 歩行障害 | 歯の異常 | 気管気管支の異常 | 泌尿生殖器異常 | 注意力欠陥多動性疾患 | 無反射 | 牛歯 | 甲状腺機能低下症 | 甲状腺異常 | 異常な松果体メラトニン分泌 | 疼痛不応性 | 痛覚障害 | 発作 | 発語および言語発達遅延 | 目立つ額 | 眼の異常 | 眼瞼裂斜上 | 睡眠-覚醒周期障害 | 睡眠時無呼吸 | 睡眠障害 | 知的障害 | 短い人中 | 短い手掌 | 短い第5指中節骨 | 短い鼻 | 短指症候群 | 短頭 | 神経学的発語障害 | 第5指弯指 | 筋緊張低下 | 粗な顔貌 | 網膜剥離 | 聴覚過敏 | 肥満 | 胃食道逆流 | 胎動減少 | 脳室拡大 | 脳梁無形成/低形成 | 脳波異常 | 腎位置異常 | 腎低形成/無形成 | 腎形態異常 | 自傷行動 | 自己切断 | 自然気胸 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 行動異常 | 衝動性 | 認知障害 | 軽度の全般性発達遅滞 | 近視 | 連続眉毛 | 運動発達遅滞 | 開口 | 関節拘縮 | 難聴 | 頭部強打 | 顔面中部後退 | 食餌摂取障害 in infancy | 高コレステロール血症 | 高トリグリセリド血症" ] }, { "id": "NANDO:2200835", "label_en": "Alexander disease", "label_ja": "アレキサンダー病", "yomigana": "あれきさんだーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200835", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal dentate nucleus morphology | Abnormal pyramidal sign | Abnormal speech pattern | Abnormality of eye movement | Agenesis of corpus callosum | Apathy | Aphasia | Aqueductal stenosis | Ataxia | Autosomal dominant inheritance | Babinski sign | Bowel incontinence | Bulbar signs | Cerebral calcification | Childhood onset | Chorea | Clonus | Constipation | Death in adolescence | Death in childhood | Death in infancy | Depression | Developmental regression | Diabetes mellitus | Diffuse demyelination of the cerebral white matter | Diplopia | Drowsiness | Dysarthria | Dysmetria | Dysphagia | Dysphonia | EEG abnormality | Emotional lability | Facial palsy | Failure to thrive | Fatigue | Frontal bossing | Gait disturbance | High palate | Hydrocephalus | Hyperhidrosis | Hyperlordosis | Hyperpigmented nevi | Hyperreflexia | Hypertension | Hypotension | Hypothermia | Hypothyroidism | Hypotonia | Increased CSF protein concentration | Infantile onset | Infectious encephalitis | Intellectual disability | Juvenile onset | Kyphosis | Large face | Macrocephaly | Megalencephaly | Muscle weakness | Nausea and vomiting | Nystagmus | Osteopenia | Palatal tremor | Pendular nystagmus | Precocious puberty | Progressive macrocephaly | Ptosis | Recurrent singultus | Respiratory insufficiency | Scoliosis | Seizure | Self-injurious behavior | Short neck | Sleep apnea | Sleep disturbance | Spasticity | Sudden cardiac death | Tetraplegia | Tremor" ], "symptoms_ja_list": [ "Babinski サイン | うつ | クローヌス | 低体温 | 低血圧 | 便秘 | 側弯 | 前弯 | 前頭突出", "額突出 | 反射亢進 | 反復性しゃっくり | 口蓋ミオクローヌス | 吐気と 嘔吐 | 呼吸不全 | 嚥下障害 | 四肢麻痺 | 多汗 | 大きな顔 | 大脳白質のびまん性脱髄 | 大脳石灰化 | 大頭 | 失語症 | 巨大脳症 | 常染色体顕性遺伝 | 後弯 | 思春期早発 | 情動不安定 | 成長障害 (成長不全) | 振り子様眼振 | 振戦 | 構音障害 | 歩行障害 | 歯状核の異常 | 水道狭窄 | 水頭症 | 測定障害 | 無関心", "感情鈍磨 | 球症状 | 甲状腺機能低下症 | 異常な自律神経生理 | 疲労 | 痙性 | 発作 | 発達退行 | 発音障害 | 眠気 | 眼振 | 眼瞼下垂 | 眼運動の異常 | 睡眠時無呼吸 | 睡眠障害 | 知的障害 | 短い頸部 | 神経学的発語障害 | 突然心臓死 | 筋緊張低下 | 筋虚弱 | 糖尿病 | 脳梁無発生 of | 脳波異常 | 脳炎 | 自傷行動 | 舞踏病 | 色素沈着性母斑 | 複視 | 進行性大頭 | 運動失調 | 遺糞症 | 錐体路運動機能の異常 | 顔面麻痺 | 骨減少症 | 髄液タンパクの増加 | 高口蓋 | 高血圧" ] }, { "id": "NANDO:2200085", "label_en": "Diffuse astrocytoma", "label_ja": "びまん性星細胞腫", "yomigana": "びまんせいせいさいぼうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200085", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100025", "label_en": "Urinary tract malformation", "label_ja": "尿路奇形", "yomigana": "にょうろきけい", "url": "http://nanbyodata.jp/ontology/NANDO_2100025", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200590", "label_en": "Orotic aciduria", "label_ja": "オロト酸尿症", "yomigana": "おろとさんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200590", "notificationNumber": "76", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100168", "symptoms_en_list": [ "Abnormal T cell physiology | Abnormal toenail morphology | Abnormality of the ureter | Aminoaciduria | Anemia | Anisocytosis | Atrial septal defect | Autosomal recessive inheritance | Downslanted palpebral fissures | Failure to thrive | Folate-unresponsive megaloblastic anemia | Global developmental delay | Hematuria | Hip dysplasia | Hypertelorism | Orotic acid crystalluria | Oroticaciduria | Patent ductus arteriosus | Poikilocytosis | Posteriorly rotated ears | Pyrimidine-responsive megaloblastic anemia | Recurrent respiratory infections | Reduced orotidine 5-prime phosphate decarboxylase level | Splenomegaly | Ventricular septal defect | Wide nasal bridge" ], "symptoms_ja_list": [ "T 細胞生理の異常 | orotidine 5-prime phosphate decarboxylase 活性減少 | アミノ酸尿 | オロチン酸尿 | オロチン酸結晶尿 | ピリミジン反応性巨赤芽球性貧血 | 両眼隔離 | 全般性発達遅滞 | 動脈管開存症 | 反復性呼吸器感染症 | 尿管異常 | 常染色体潜性遺伝 | 幅広い鼻梁 | 心室中隔欠損 | 心房中隔欠損 | 成長障害 (成長不全) | 異型赤血球増加症 | 眼瞼裂斜下 | 耳介後方回転 | 股関節異形成 | 脾腫 | 葉酸不応性巨赤芽球性貧血 | 血尿 | 貧血 | 赤血球大小不同 | 趾爪の異常" ] }, { "id": "NANDO:2100040", "label_en": "Congenital diaphragmatic hernia", "label_ja": "先天性横隔膜ヘルニア", "yomigana": "せんてんせいおうかくまくへるにあ", "url": "http://nanbyodata.jp/ontology/NANDO_2100040", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200015", "label_en": "McLeod syndrome", "label_ja": "Mcleod症候群", "yomigana": "まくらうどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200015", "notificationNumber": "9", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Absent Achilles reflex | Acanthocytosis | Adult onset | Anxiety | Areflexia of upper limbs | Atrial fibrillation | Cardiomyopathy | Chorea | Compulsive behaviors | Depression | Dilated cardiomyopathy | Dysarthria | Dyskinesia | Dystonia | Elevated circulating creatine kinase activity | Generalized-onset seizure | Hepatomegaly | Impaired vibration sensation at ankles | Motor axonal neuropathy | Muscle weakness | Myopathy | Personality disorder | Rhabdomyolysis | Seizure | Splenomegaly | X-linked inheritance" ], "symptoms_ja_list": [ "X連鎖遺伝 | うつ | アキレス腱反射欠損 | ジスキネジア | ジストニア | ミオパチー | 上肢無反射 | 不安 | 全身性発作 | 強迫性行動 | 心房細動 | 心筋症 | 性格異常 | 拡張型心筋症 | 有棘赤血球増加 | 構音障害 | 横紋筋融解 | 発作 | 筋虚弱 | 肝腫 | 脾腫 | 舞踏病 | 血清 creatine phosphokinase上昇 | 足の振動覚障害 | 運動性軸索ニューロパチー" ] }, { "id": "NANDO:1200753", "label_en": "Congenital central hypoventilation syndrome", "label_ja": "先天性中枢性低換気症候群", "yomigana": "せんてんせいちゅうすうせいていかんきしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200753", "notificationNumber": "230", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200194", "label_en": "Tracheal stenosis", "label_ja": "気管狭窄", "yomigana": "きかんきょうさく", "url": "http://nanbyodata.jp/ontology/NANDO_2200194", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200579", "label_en": "Wilson disease", "label_ja": "ウィルソン病", "yomigana": "うぃるそんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200579", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100167", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormality of extrapyramidal motor function | Abnormality of the hand | Abnormality of the menstrual cycle | Acute hepatic failure | Acute hepatitis | Aggressive behavior | Aminoaciduria | Anemia | Anxiety | Arthralgia | Arthritis | Ascites | Atypical or prolonged hepatitis | Autosomal recessive inheritance | Back pain | Bone pain | Bruising susceptibility | Childhood onset | Chondrocalcinosis | Chorea | Cirrhosis | Clumsiness | Coma | Decreased circulating ceruloplasmin concentration | Decreased nerve conduction velocity | Dementia | Depression | Drooling | Dysarthria | Dysphagia | Dystonia | Edema | Elevated circulating hepatic transaminase concentration | Esophageal varix | Excessive salivation | Failure to thrive | Focal T2 hyperintense brainstem lesion | Gait disturbance | Glycosuria | Hallucinations | Hand tremor | Hemolytic anemia | Hepatic failure | Hepatic steatosis | Hepatitis | Hepatocellular carcinoma | Hepatomegaly | High nonceruloplasmin-bound serum copper | Hyperbilirubinemia | Hypercalciuria | Hyperphosphaturia | Hypoalbuminemia | Hypokinesia | Hypoparathyroidism | Hyposmia | Hypouricemia | Incoordination | Increased body weight | Increased urinary copper concentration | Infertility | Insomnia | Intellectual disability | Jaundice | Joint hypermobility | Joint swelling | Juvenile onset | Kayser-Fleischer ring | Kidney stone | Limb dystonia | Limb muscle weakness | Mixed demyelinating and axonal polyneuropathy | Osteoarthritis | Osteomalacia | Osteoporosis | Pancreatitis | Parkinsonism with favorable response to dopaminergic medication | Pathologic fracture | Pedal edema | Personality changes | Polyneuropathy | Portal fibrosis | Proteinuria | Proximal lower limb muscle weakness | Pruritus | Psychosis | Renal tubular dysfunction | Rigidity | Seizure | Splenomegaly | Thrombocytopenia | Tremor | Vomiting | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "Dementia | Kayser-Fleischer 環 | うつ | アミノ酸尿 | ジストニア | ドパミン製剤によく反応するパーキンソン症候群 | ポリニューロパチー | 下肢の近位筋虚弱 | 不器用 | 不妊 | 不安 | 不眠 | 低尿酸血症 | 体重喪失 | 体重増加 | 出血傾向 | 副甲状腺機能低下症 | 協調運動障害 | 嗅覚減退 | 嘔吐 | 嚥下障害 | 四肢ジストニア | 四肢筋虚弱 | 尿中銅濃度増加 | 尿糖 | 巣状 T2 高輝度脳幹病変 | 常染色体潜性遺伝 | 幻覚 | 急性肝不全 | 急性肝炎 | 性格変化 | 成長障害 (成長不全) | 手の異常 | 手振戦 | 振戦 | 掻痒 | 攻撃的行動 | 昏睡 | 月経周期異常 | 構音障害 | 歩行障害 | 流涎 | 浮腫 | 浮腫 (下肢) | 混合性脱髄性および軸索ポリニューロパチー | 溶血性貧血 | 病的骨折 | 発作 | 知的障害 | 硬直 | 神経活動電位の振幅減少 | 精神病 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝炎 | 肝硬変 | 肝細胞癌 | 肝腫 | 背部痛 | 脂肪肝 | 脾腫 | 腎尿細管機能障害 | 腎結石 | 腹水 | 腹痛 | 腹部膨満 | 膵炎 | 舞踏病 | 蛋白尿 | 血小板減少 | 血清セルロプラスミン減少 | 誇張された唾液分泌 | 貧血 | 軟骨石灰化症 | 運動減少 | 錐体外路運動機能の異常 | 門脈線維症 | 関節炎 | 関節痛 | 関節腫脹 | 関節過動 | 非セルロプラスミン結合性血清銅高値 | 非典型的または遷延性肝炎 | 食道静脈瘤 | 骨痛 | 骨粗鬆症 | 骨軟化症 | 骨関節炎 | 高アルブミン血症 | 高カルシウム尿 | 高ビリルビン血症 | 高リン尿 | 黄疸" ] }, { "id": "NANDO:2201157", "label_en": "obsolete Glycogen storage disease type 3c", "label_ja": "obsolete 糖原病IIIc型", "yomigana": "とうげんびょう3しーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201157", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200308", "label_en": "Paroxysmal cold hemoglobinuria", "label_ja": "発作性寒冷ヘモグロビン尿症", "yomigana": "ほっさせいかんれいへもぐろびんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200308", "notificationNumber": "61", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal urinary color | Arthralgia | Autoimmune hemolytic anemia | Back pain | Coombs-positive hemolytic anemia | Diarrhea | Fever | Headache | Hemoglobinuria | Nausea and vomiting | Recurrent respiratory infections" ], "symptoms_ja_list": [ "Coombs 陽性溶血性貧血 | ヘモグロビン尿 | 下痢 | 反復性呼吸器感染症 | 吐気と 嘔吐 | 尿色異常 | 発熱 | 背部痛 | 自己免疫性溶血性貧血 | 関節痛 | 頭痛" ] }, { "id": "NANDO:2200606", "label_en": "Other disorder of lipid metabolism", "label_ja": "129から133までに掲げるもののほか、脂質代謝異常症", "yomigana": "129から133までにかかげるもののほか、ししつたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200606", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100171", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200908", "label_en": "Extensive aganglionosis Hirschsprung disease", "label_ja": "小腸型ヒルシュスプルング病", "yomigana": "しょうちょうがたひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200908", "notificationNumber": "291", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201239", "label_en": "obsolete Skeletal dysplasias", "label_ja": "obsolete 骨系統疾患", "yomigana": "こつけいとうしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2201239", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200448", "label_en": "Atypical Crohn's disease", "label_ja": "特殊型クローン病", "yomigana": "とくしゅがたくろーんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200448", "notificationNumber": "96", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200866", "label_en": "LMNA-related congenital muscular dystrophy", "label_ja": "LMNA遺伝子変異型筋ジストロフィー", "yomigana": "えるえむえぬえーいでんしへんいがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200866", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [ "Achilles tendon contracture | Arrhythmia | Autosomal dominant inheritance | Axial muscle weakness | Cachexia | Childhood onset | Congenital onset | Congestive heart failure | Death in infancy | Decreased fetal movement | Distal muscle weakness | EMG abnormality | Elevated circulating creatine kinase activity | Failure to thrive | Feeding difficulties | Flexion contracture | Gait disturbance | Generalized amyotrophy | Global developmental delay | Hamstring contractures | Hip contracture | Hyperlordosis | Hypotonia | Infantile onset | Joint hypermobility | Juvenile onset | Limitation of joint mobility | Loss of ambulation | Motor delay | Muscle fiber atrophy | Muscular dystrophy | Myopathy | Narrow chest | Neck muscle weakness | Paroxysmal atrial fibrillation | Paroxysmal atrial tachycardia | Poor head control | Progressive | Proximal muscle weakness | Proximal upper limb amyotrophy | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Scapuloperoneal amyotrophy | Skeletal muscle atrophy | Spinal rigidity | Talipes | Upper limb muscle weakness | Ventricular tachycardia" ], "symptoms_ja_list": [ "うっ血性心不全 | アキレス腱拘縮 | ハムストリング拘縮 | ミオパチー | 上肢筋虚弱 | 不整脈 | 全般性発達遅滞 | 全身性筋萎縮 | 前弯 | 呼吸不全 | 尖足 | 屈曲拘縮 | 常染色体顕性遺伝 | 心室性 頻拍 | 悪液質 (カヘキシー) | 成長障害 (成長不全) | 歩行障害 | 狭い胸郭 | 発作性心房性頻拍 | 発作性心房細動 | 筋ジストロフィー | 筋緊張低下 | 筋線維萎縮 | 筋萎縮 | 筋虚弱による呼吸不全 | 筋電図異常 | 股関節拘縮 | 肩甲骨腓骨筋萎縮 | 胎動減少 | 脊椎強直 | 血清 creatine phosphokinase上昇 | 軸性筋虚弱 | 近位上肢筋萎縮 | 近位筋虚弱 | 進行性歩行不安定 | 運動発達遅滞 | 遠位筋虚弱 | 関節運動制限 | 関節過動 | 頸定不全 | 頸部筋虚弱 | 食餌摂取障害" ] }, { "id": "NANDO:2100201", "label_en": "Aplastic anemia", "label_ja": "再生不良性貧血", "yomigana": "さいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2100201", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200408", "label_en": "obsolete MC2R deficiency", "label_ja": "obsolete MC2R異常症", "yomigana": "えむしー2あーるいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200408", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200237", "label_en": "Chronic myocarditis", "label_ja": "慢性心筋炎", "yomigana": "まんせいしんきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200237", "notificationNumber": "93", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100062", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201319", "label_en": "Relapsing-remitting multiple sclerosis", "label_ja": "再発寛解型多発性硬化症", "yomigana": "さいはつかんかいがたたはつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201319", "notificationNumber": "62", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100250", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200527", "label_en": "Dystonia 13", "label_ja": "DYT13ジストニア", "yomigana": "でぃーわいてぃー13じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200527", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Action tremor | Autosomal dominant inheritance | Blepharospasm | Craniofacial dystonia | Dystonia | Focal dystonia | Generalized dystonia | Hoarse voice | Involuntary movements | Jerky head movements | Limb dystonia | Motor stereotypy | Oromandibular dystonia | Postural instability | Postural tremor | Torsion dystonia | Torticollis | Tremor | Writer's cramp" ], "symptoms_ja_list": [ "ジストニア | 不随意運動 | 作動振戦 | 全身性ジストニア | 反射性頭部運動 | 口下顎ジストニア | 嗄声 | 四肢ジストニア | 姿勢不安定 | 姿勢性振戦 | 常同行動 | 常染色体顕性遺伝 | 振戦 | 捻転ジストニア | 斜頚 | 書痙 | 焦点性ジストニア | 眼瞼スパスム | 頭蓋顔面ジストニア" ] }, { "id": "NANDO:1200822", "label_en": "Biotinidase deficiency", "label_ja": "ビオチニダーゼ欠損症", "yomigana": "びおちにだーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200822", "notificationNumber": "255", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of the eye | Abnormality of the immune system | Abnormality of the nervous system | Alopecia | Apnea | Ataxia | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Childhood onset | Conjunctivitis | Diarrhea | Diffuse cerebellar atrophy | Diffuse cerebral atrophy | Eczematoid dermatitis | Feeding difficulties in infancy | Focal motor seizure | Generalized myoclonic seizure | Global developmental delay | Hearing impairment | Hepatomegaly | Hyperammonemia | Hyperventilation | Hypotonia | Infantile onset | Infantile spasms | Intellectual disability | Laryngeal stridor | Lethargy | Limb muscle weakness | Metabolic ketoacidosis | Myelopathy | Nonprogressive visual loss | Optic atrophy | Optic neuropathy | Organic aciduria | Recurrent Candida infection | Recurrent fungal infections | Recurrent skin infections | Recurrent viral infections | Respiratory distress | Scotoma | Seborrheic dermatitis | Seizure | Sensorineural hearing impairment | Skin rash | Spastic paraparesis | Splenomegaly | Tachypnea | Visual loss | Vomiting" ], "symptoms_ja_list": [ "びまん性大脳萎縮 | びまん性小脳萎縮 | ミエロパチー | 下痢 | 乳児スパスム | 代謝性ケトアシドーシス | 免疫系の異常 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 反復性ウイルス感染症 | 反復性カビ感染症 | 反復性カンジダ感染症 | 反復性皮膚感染症 | 呼吸窮迫 | 喉頭喘鳴 | 嘔吐 | 四肢筋虚弱 | 多呼吸 | 多換気 | 常染色体潜性遺伝 | 感音難聴 | 暗点 | 有機酸尿 | 湿疹 | 無呼吸 | 無気力 | 焦点性運動発作 | 痙性対不全麻痺 | 発作 | 皮膚発疹 | 眼の異常 | 知的障害 | 神経系の異常 | 禿頭 | 筋緊張低下 | 結膜炎 | 肝腫 | 脂漏性皮膚炎 | 脾腫 | 視力喪失 | 視神経ニューロパチー | 視神経萎縮 | 運動失調 | 難聴 | 非進行性視力喪失 | 食餌摂取障害 in infancy | 高アンモニア血症" ] }, { "id": "NANDO:2201299", "label_en": "AGAT deficiency", "label_ja": "AGAT欠損症", "yomigana": "えーじーえーてぃーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201299", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100226", "symptoms_en_list": [ "Atypical behavior | Autism | Autosomal recessive inheritance | Cognitive impairment | Decreased serum creatinine | Delayed speech and language development | Failure to thrive | Gait disturbance | Global developmental delay | Gowers sign | Hypotonia | Infantile onset | Intellectual disability | Muscle weakness | Myopathy | Organic aciduria | Seizure" ], "symptoms_ja_list": [ "Gowers サイン | ミオパチー | 全般性発達遅滞 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 有機酸尿 | 歩行障害 | 発作 | 発語および言語発達遅延 | 知的障害 | 筋緊張低下 | 筋虚弱 | 自閉症 | 血清クレアチニン減少 | 行動異常 | 認知障害" ] }, { "id": "NANDO:2200745", "label_en": "Severe congenital neutropenia", "label_ja": "重症先天性好中球減少症", "yomigana": "じゅうしょうせんてんせいこうちゅうきゅうげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200745", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200085", "label_en": "Late-infantile multiple sulfatase deficiency", "label_ja": "乳幼児型マルチプルスルファターゼ欠損症", "yomigana": "にゅうようじがたまるちぷるするふぁたーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200085", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal periventricular white matter morphology | Abnormal retinal pigmentation | Abnormality of peripheral nerve conduction | Anteverted nares | Ataxia | Autosomal recessive inheritance | Broad hallux | Broad hallux phalanx | Broad thumb | CNS demyelination | Cataract | Cerebellar atrophy | Cerebral atrophy | Coarse facial features | Coarse hair | Corneal opacity | Depressed nasal bridge | Developmental regression | Dysostosis multiplex | Flat face | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrocephalus | Hypoplastic vertebral bodies | Ichthyosis | Increased CSF protein concentration | Intellectual disability | Joint stiffness | Large forehead | Lower limb hyperreflexia | Macrocephaly | Microcephaly | Mucopolysacchariduria | Neonatal hypotonia | Optic atrophy | Periorbital edema | Peripheral demyelination | Prominent forehead | Rapid neurologic deterioration | Retinal degeneration | Seizure | Sensorineural hearing impairment | Short stature | Smooth philtrum | Spasticity | Splenomegaly | Thick eyebrow | Ventriculomegaly | Visual impairment" ], "symptoms_ja_list": [ "ムコ多糖症 | 上向きの鼻孔 | 下肢反射亢進 | 中枢神経脱髄 | 低身長 | 全般性発達遅滞 | 分厚い眉毛 | 多発性異骨症 | 大きな額 | 大脳萎縮 | 大頭 | 小脳萎縮 | 小頭 | 常染色体潜性遺伝 | 幅広い母指 | 幅広い母趾 | 幅広い母趾趾骨 | 平坦な人中 | 平坦な顔 | 急速神経学的悪化 | 感音難聴 | 新生児筋緊張低下 | 末梢神経伝導の異常 | 末梢神経脱髄 | 椎体骨低形成 | 水頭症 | 痙性 | 発作 | 発達退行 | 白内障 | 目立つ額 | 眼窩周囲浮腫 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 網膜変性 | 網膜色素異常 | 肝腫 | 脳室周囲白質の異常 | 脳室拡大 | 脾腫 | 落ちくぼんだ鼻梁 | 視力障害 | 視神経萎縮 | 角膜混濁 | 運動失調 | 関節拘縮 | 難聴 | 髄液タンパクの増加 | 魚鱗癬" ] }, { "id": "NANDO:2200979", "label_en": "Smith-Lemli-Opitz syndrome", "label_ja": "スミス・レムリ・オピッツ症候群", "yomigana": "すみす・れむり・おぴっつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200979", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "2-3 toe cutaneous syndactyly | 2-3 toe syndactyly | Abdominal distention | Abnormal cardiovascular system morphology | Abnormal dental enamel morphology | Abnormal dental morphology | Abnormal dermatoglyphics | Abnormal eyelash morphology | Abnormal localization of kidney | Abnormal lung lobation | Abnormal metacarpal morphology | Abnormal rib morphology | Abnormal vertebral body morphology | Abnormality of the gallbladder | Abnormality of the larynx | Advanced eruption of teeth | Aganglionic megacolon | Aggressive behavior | Ambiguous genitalia | Anteverted nares | Aplasia/Hypoplasia affecting the eye | Aplasia/Hypoplasia of the cerebellum | Aplasia/Hypoplasia of the corpus callosum | Aplasia/Hypoplasia of the radius | Arachnoid cyst | Atrial septal defect | Atrioventricular canal defect | Attention deficit hyperactivity disorder | Autism | Autosomal recessive inheritance | Bicornuate uterus | Bifid scrotum | Bifid tongue | Bifid uvula | Biparietal narrowing | Brachydactyly | Breech presentation | Broad alveolar ridges | Cataract | Cerebellar atrophy | Chiari type I malformation | Choanal atresia | Cholestatic liver disease | Cirrhosis | Cleft palate | Clitoral hypertrophy | Coarctation of aorta | Congenital diaphragmatic hernia | Congenital onset | Constipation | Cryptorchidism | Cutaneous photosensitivity | Cutis marmorata | Dandy-Walker malformation | Death in infancy | Decreased fetal movement | Dental crowding | Depressed nasal bridge | Diffuse cerebral atrophy | Downslanted palpebral fissures | Duplicated collecting system | Eczematoid dermatitis | Elevated circulating 7-dehydrocholesterol concentration | Epicanthus | Epiphyseal stippling | Excessive daytime somnolence | Facial capillary hemangioma | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Finger syndactyly | Gastroesophageal reflux | Gastrointestinal dysmotility | Gastroschisis | Generalized hypotonia | Gingival overgrowth | Glaucoma | Global brain atrophy | Global developmental delay | Growth delay | Hammertoe | Hearing impairment | Hepatic steatosis | Hepatomegaly | Hip dislocation | Holoprosencephaly | Hydrocephalus | Hydronephrosis | Hyperactivity | Hypertelorism | Hypertension | Hypertonia | Hypertrophic cardiomyopathy | Hypoalbuminemia | Hypocholesterolemia | Hypopigmentation of hair | Hypoplasia of penis | Hypoplasia of the corpus callosum | Hypoplasia of the frontal lobes | Hypospadias | Hypotonia | Increased nuchal translucency | Intellectual disability | Intestinal malrotation | Intrauterine growth retardation | Iris coloboma | Kyphosis | Long philtrum | Low-set ears | Mesomelia | Metatarsus adductus | Microcephaly | Microglossia | Micrognathia | Micromelia | Micropenis | Microretrognathia | Multicystic kidney dysplasia | Narrow forehead | Nystagmus | Optic atrophy | Overlapping toe | Partial agenesis of the corpus callosum | Patent ductus arteriosus | Penoscrotal hypospadias | Periventricular heterotopia | Polyhydramnios | Poor suck | Postaxial foot polydactyly | Postaxial hand polydactyly | Posteriorly rotated ears | Precocious puberty | Premature birth | Proptosis | Proximal placement of thumb | Ptosis | Pulmonary hypoplasia | Pyloric stenosis | Recurrent infections | Recurrent otitis media | Renal agenesis | Renal cyst | Renal hypoplasia | Renal hypoplasia/aplasia | Rhizomelia | Sacral dimple | Sclerocornea | Scoliosis | Seizure | Self-injurious behavior | Self-mutilation | Sensorineural hearing impairment | Septate vagina | Severe photosensitivity | Short neck | Short stature | Short thumb | Short toe | Sleep disturbance | Sleep-wake cycle disturbance | Small scrotum | Splenomegaly | Split hand | Strabismus | Supernumerary tooth | Talipes calcaneovalgus | Tooth agenesis | Tracheal stenosis | Ulnar deviation of finger | Unilateral renal agenesis | Upslanted palpebral fissure | Ureteropelvic junction obstruction | Ventricular fibrillation | Ventricular septal defect | Ventriculomegaly | Vomiting | Wide intermamillary distance | Wide mouth | Wide nasal bridge" ], "symptoms_ja_list": [ "7-dehydrocholesterol 上昇 | Dandy-Walker 奇形 | I 型Arnold-Chiari 奇形 | くも膜嚢胞 | びまん性大脳萎縮 | コロボーマ | 上向きの鼻孔 | 両眼隔離 | 両頭頂径狭小 | 中手骨形態異常 | 事後性多趾症 | 二分した口蓋垂 | 二分した舌 | 二分陰嚢 | 仙骨部陥凹 | 低コレステロール血症 | 低身長 | 便秘 | 停留精巣 | 側弯 | 先天性横隔膜ヘルニア | 全前脳胞症 | 全般性発達遅滞 | 全般性脳萎縮 | 全身性筋緊張低下 | 内眼角贅皮 | 内転中足骨 | 前頭葉低形成 | 動脈管開存症 | 双角子宮 | 反復性中耳炎 | 反復性感染症 | 口蓋裂 | 合指症 | 吸啜不全 | 喉頭の異常 | 嗜眠 | 嘔吐 | 四肢中部短縮 | 四肢近位短縮 | 外反踵骨 | 多動 | 多嚢胞腎異形成 | 大動脈縮窄 | 大理石皮膚 | 子宮内成長遅滞 | 小肢症 | 小脳無形成/低形成 | 小脳萎縮 | 小舌 | 小陰茎 | 小頭 | 小顎 | 小顎後退 | 尿管腎盂接合部閉塞 | 尿道下裂 | 常染色体潜性遺伝 | 幅広い乳頭間距離 | 幅広い口 | 幅広い歯槽隆起 | 幅広い鼻梁 | 幽門狭窄 | 後弯 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 心室細動 | 心房中隔欠損 | 思春期早発 | 性別不明の外性器 | 感音難聴 | 成長遅滞 | 成長障害 (成長不全) | 房室管欠損 | 指の尺側偏位 | 攻撃的行動 | 斜視 | 早産 | 椎体骨形態異常 | 槌趾 | 橈骨無形成/低形成 | 歯エナメル質異常 | 歯形態異常 | 歯数の減少 number of teeth | 歯数増加 | 歯混雑 | 歯肉過成長 | 歯萠出促進 | 毛髪低色素 | 気管狭窄 | 水腎症 | 水頭症 | 注意力欠陥多動性疾患 | 湿疹 | 無神経節性巨大結腸 | 片側性腎無発生 | 狭い額 | 異常な皮膚紋理 | 発作 | 白内障 | 皮膚光線過敏症 | 眼振 | 眼無形成/低形成 | 眼球突出 | 眼瞼下垂 | 眼瞼裂斜上 | 眼瞼裂斜下 | 睡眠-覚醒周期障害 | 睡眠障害 | 睫毛の異常 | 知的障害 | 短い母指 | 短い趾 | 短い頸部 | 短指症候群 | 第2-3 合趾症 | 第2-3 趾皮膚性合趾症 | 筋緊張亢進 | 筋緊張低下 | 緑内障 | 羊水過多 | 耳介低位 | 耳介後方回転 | 肋骨の異常 | 肝硬変 | 肝腫 | 股関節脱臼 | 肥大型心筋症 | 肺低形成 | 肺分葉の異常 | 胃腸蠕動運動異常 | 胃食道逆流 | 胆嚢の異常 | 胆汁うっ滞性肝疾患 | 胎動減少 | 脂肪肝 | 脳室周囲異所性灰白質 | 脳室拡大 | 脳梁の部分的無発生 | 脳梁低形成 | 脳梁無形成/低形成 | 脾腫 | 腎位置異常 | 腎低形成 | 腎低形成/無形成 | 腎嚢胞 | 腎無発生 | 腸回転異常 | 腹壁破裂 | 腹部膨満 | 膣中隔 | 自傷行動 | 自己切断 | 自閉症 | 落ちくぼんだ鼻梁 | 裂手 | 視神経萎縮 | 角膜硬化 | 趾の重なり | 軸後性多指症 | 近位母指 | 重度の光線過敏症 | 長い人中 | 陰嚢低形成 | 陰核肥大 | 陰茎低形成 | 陰茎陰嚢尿道下裂 | 集合管重複 | 難聴 | 項部透過性増加 | 顔面毛細血管腫 | 食餌摂取障害 | 食餌摂取障害 in infancy | 骨盤位 | 骨端点状石灰化 | 高アルブミン血症 | 高血圧" ] }, { "id": "NANDO:1200190", "label_en": "Gerstmann-Straussler-Scheinker syndrome", "label_ja": "ゲルストマン・ストロイスラー・シャインカー病", "yomigana": "げるすとまん・すとろいすらー・しゃいんかーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200190", "notificationNumber": "23", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal central sensory function | Abnormal cerebellum morphology | Abnormal pyramidal tract morphology | Abnormality of extrapyramidal motor function | Adult onset | Aggressive behavior | Apraxia | Areflexia | Autosomal dominant inheritance | Bradykinesia | Cerebellar atrophy | Cognitive impairment | Dementia | Depression | Diminished deep tendon reflex | Dysarthria | Dysesthesia | Emotional lability | Gait ataxia | Hyperreflexia | Impaired smooth pursuit | Limb ataxia | Lower limb muscle weakness | Memory impairment | Mental deterioration | Myoclonus | Neurofibrillary tangles | Paresthesia | Parkinsonism | Personality changes | Psychosis | Rapidly progressive | Rigidity | Sleep disturbance | Spasticity | Tremor | Truncal ataxia | Weight loss" ], "symptoms_ja_list": [ "Dementia | うつ | パーキンソン症候群 | ミオクローヌス | 下肢筋虚弱 | 中枢性感覚機能の異常 | 体幹失調 | 体重喪失 | 反射亢進 | 四肢失調 | 失行症 | 小脳の異常 | 小脳萎縮 | 常染色体顕性遺伝 | 性格変化 | 情動不安定 | 感覚異常 | 振戦 | 攻撃的行動 | 構音障害 | 歩行失調 | 滑らかな追視の障害 | 無反射 | 痙性 | 睡眠障害 | 知能悪化 | 硬直 | 神経原線維濃縮体 | 精神病 | 腱反射減少 | 記憶障害 | 認知障害 | 運動緩徐 | 錐体外路運動機能の異常 | 錐体路の形態異常" ] }, { "id": "NANDO:2200850", "label_en": "Moyamoya disease", "label_ja": "もやもや病", "yomigana": "もやもやびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200850", "notificationNumber": "103", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100228", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Intellectual disability | Seizure | Telangiectasia | Ventriculomegaly" ], "symptoms_ja_list": [ "大脳血管の異常 | 毛細血管拡張 | 発作 | 知的障害 | 脳室拡大" ] }, { "id": "NANDO:2200207", "label_en": "Idiopathic pulmonary hemosiderosis", "label_ja": "特発性肺ヘモジデローシス", "yomigana": "とくはつせいはいへもじでろーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200207", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100037", "symptoms_en_list": [ "Allergy | Anti-smooth muscle antibody positivity | Antineutrophil antibody positivity | Antinuclear antibody positivity | Autosomal dominant inheritance | Cardiomegaly | Cough | Cow milk allergy | Dyspnea | Failure to thrive | Fatigue | Fever | Glomerulonephritis | Hemoptysis | Hepatomegaly | Hepatosplenomegaly | Iron deficiency anemia | Pallor | Pulmonary fibrosis | Pulmonary infiltrates | Recurrent intrapulmonary hemorrhage | Respiratory failure | Respiratory insufficiency | Restrictive ventilatory defect | Rheumatoid factor positive | Transient pulmonary infiltrates" ], "symptoms_ja_list": [ "アレルギー | リウマチ因子陽性 | 一過性肺浸潤 | 反復性肺内出血 | 呼吸不全 | 呼吸困難 | 喀血 | 外層 | 常染色体顕性遺伝 | 平滑筋 抗体陽性 | 心拡大 | 成長障害 (成長不全) | 抗好中球抗体陽性 | 抗核抗体陽性 | 拘束性肺疾患 | 牛乳アレルギー | 疲労 | 発熱 | 糸球体腎炎 | 肝脾腫 | 肝腫 | 肺浸潤 | 肺線維症 | 蒼白 | 鉄欠乏症貧血" ] }, { "id": "NANDO:1200358", "label_en": "Myeloperoxidase deficiency", "label_ja": "ミエロペルオキシダーゼ欠損症", "yomigana": "みえろぺるおきしだーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200358", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormality of blood and blood-forming tissues | Abnormality of metabolism/homeostasis | Abnormality of the immune system | Autosomal recessive inheritance" ], "symptoms_ja_list": [ "代謝/ホメオスターシスの異常 | 免疫系の異常 | 常染色体潜性遺伝 | 血液および血液痙性組織の異常" ] }, { "id": "NANDO:2200361", "label_en": "Aldosteronism", "label_ja": "アルドステロン症", "yomigana": "あるどすてろんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200361", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100129", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200048", "label_en": "Spinocerebellar ataxia type 36", "label_ja": "脊髄小脳失調症36型", "yomigana": "せきずいしょうのうしっちょうしょう36がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200048", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Ataxia | Attention deficit hyperactivity disorder | Autosomal dominant inheritance | Babinski sign | Blurred vision | Bowel incontinence | Cerebellar atrophy | Diplopia | Dysarthria | Dysmetria | Dysphagia | EMG: neuropathic changes | Fasciculations | Gait ataxia | Gait disturbance | Hand tremor | Head tremor | Hearing impairment | Hyperreflexia | Hypertonia | Hypotonia | Impaired smooth pursuit | Incoordination | Intention tremor | Limb ataxia | Loss of Purkinje cells in the cerebellar vermis | Migraine | Muscle weakness | Nystagmus | Progressive | Ptosis | Skeletal muscle atrophy | Slow saccadic eye movements | Tongue atrophy | Tongue fasciculations | Truncal ataxia | Vertical supranuclear gaze palsy | Vertigo" ], "symptoms_ja_list": [ "Babinski サイン | 企図振戦 | 体幹失調 | 偏頭痛 | 協調運動障害 | 反射亢進 | 嚥下障害 | 四肢失調 | 垂直性核上性注視麻痺 | 小脳萎縮 | 小脳虫部Purkinje細胞喪失 | 常染色体顕性遺伝 | 手振戦 | 構音障害 | 歩行失調 | 歩行障害 | 注意力欠陥多動性疾患 | 測定障害 | 滑らかな追視の障害 | 眩暈 | 眼振 | 眼瞼下垂 | 筋緊張亢進 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 筋電図: 神経症変化 | 線維束性収縮 | 緩徐なサッカード性眼球運動 | 舌線維束性収縮 | 舌萎縮 | 複視 | 視力障害(霧視、かすみ目) | 運動失調 | 遺糞症 | 難聴 | 頭振戦" ] }, { "id": "NANDO:2100223", "label_en": "ATR-X syndrome", "label_ja": "ATR-X症候群", "yomigana": "えーてぃーあーるえっくすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100223", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100301", "label_en": "Disorders of glycoprotein metabolism", "label_ja": "糖蛋白代謝障害", "yomigana": "とうたんぱくたいしゃしょうがい", "url": "http://nanbyodata.jp/ontology/NANDO_2100301", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200926", "label_en": "Acute liver failure with hepatic coma", "label_ja": "急性肝不全（昏睡型）", "yomigana": "きゅうせいかんふぜん（こんすいがた）", "url": "http://nanbyodata.jp/ontology/NANDO_2200926", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100262", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200661", "label_en": "Thrombocytopenia with absent radii", "label_ja": "橈骨欠損を伴う血小板減少症", "yomigana": "とうこつけっそんをともなうけっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200661", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [ "Abnormal cardiac septum morphology | Abnormal shoulder morphology | Abnormality of coagulation | Abnormality of the genitourinary system | Abnormality of the kidney | Absent radius | Absent thumb | Adducted thumb | Anemia | Anteverted nares | Aplasia of the uterus | Aplasia/Hypoplasia of the patella | Aplasia/Hypoplasia of the ulna | Aplasia/hypoplasia of the humerus | Atrial septal defect | Atrioventricular canal defect | Autosomal recessive inheritance | Axial malrotation of the kidney | Bilateral radial aplasia | Brachycephaly | Broad forehead | Broad thumb | Carpal bone hypoplasia | Carpal synostosis | Cataract | Cavum septum pellucidum | Cerebellar hypoplasia | Cerebellar vermis hypoplasia | Cervical ribs | Cleft palate | Clinodactyly of the 5th finger | Coarctation of aorta | Congenital onset | Corneal opacity | Cow milk allergy | Coxa valga | Death in infancy | Decreased circulating immunoglobulin concentration | Delayed CNS myelination | Dilatation of the renal pelvis | Edema of the dorsum of feet | Edema of the dorsum of hands | Facial capillary hemangioma | Femoral bowing | Fibular aplasia | Finger syndactyly | Fused cervical vertebrae | Genu varum | Global developmental delay | Hepatosplenomegaly | High forehead | Hip dislocation | Horseshoe kidney | Hypoplasia of the radius | Hypoplasia of the ulna | Increased total eosinophil count | Increased total leukocyte count | Intellectual disability | Lateral clavicle hook | Malar flattening | Meckel diverticulum | Micrognathia | Motor delay | Nevus flammeus of the forehead | Pancreatic cysts | Patellar aplasia | Patellar dislocation | Patent ductus arteriosus | Phocomelia | Posteriorly rotated ears | Ptosis | Radial deviation of the hand | Renal malrotation | Scoliosis | Seborrheic dermatitis | Seizure | Sensorineural hearing impairment | Short forearm | Short phalanx of finger | Short stature | Short thumb | Shoulder muscle hypoplasia | Spina bifida | Strabismus | Syringomyelia | Talipes equinovarus | Tetralogy of Fallot | Thrombocytopenia | Tibial torsion | Ulnar bowing | Ulnar deviation of the hand | Ureteral duplication | Ventricular septal defect | Vesicoureteral reflux" ], "symptoms_ja_list": [ "Fallot 四徴症 | Meckel 憩室 | アザラシ肢 | 上向きの鼻孔 | 上腕骨無形成/低形成 | 両側性橈骨無形成 | 中枢神経髄鞘形成遅延 | 二分脊椎 | 低ガンマグロブリン血症 | 低身長 | 側弯 | 全般性発達遅滞 | 内反尖足 | 内反膝 | 内転母指 | 凝固の異常 | 動脈管開存症 | 口蓋裂 | 合指症 | 外反股 | 大動脈縮窄 | 大腿骨湾曲 | 好酸球増多症 | 子宮無形成 | 小脳低形成 | 小脳虫部低形成 | 小顎 | 尺骨低形成 | 尺骨湾曲 | 尺骨無形成/低形成 | 尿管重複 | 常染色体潜性遺伝 | 幅広い母指 | 幅広い額 | 平坦な頬 | 心中隔 | 心室中隔欠損 | 心房中隔欠損 | 感音難聴 | 房室管欠損 | 手の尺側偏位 | 手の橈側偏位 | 手根骨低形成 | 手根骨癒合 | 斜視 | 橈骨低形成 | 橈骨欠損 | 母指欠損 | 泌尿生殖器異常 | 浮腫 (手背) | 浮腫 (足背) | 牛乳アレルギー | 発作 | 白内障 | 白血球増多症 | 眼瞼下垂 | 知的障害 | 短い前腕 | 短い指骨 | 短い母指 | 短頭 | 第5指弯指 | 耳介後方回転 | 肝脾腫 | 股関節脱臼 | 肩の異常 | 肩筋低形成 | 脂漏性皮膚炎 | 脊髄空洞症 | 脛骨捻転 | 腎の軸性回転異常 | 腎回転異常 | 腎異常 | 腎盂拡張 | 腓骨無形成 | 膀胱尿管逆流 | 膝蓋骨無形成/低形成 | 膝蓋骨無形成無形成 | 膝蓋骨脱臼 | 膵膿瘍 | 血小板減少 | 角膜混濁 | 貧血 | 透明中隔嚢胞 | 運動発達遅滞 | 鉤状鎖骨 | 頚椎癒合 | 頸肋 | 額の火炎状母斑 | 顔面毛細血管腫 | 馬蹄腎 | 高い額" ] }, { "id": "NANDO:1200109", "label_en": "Maroteaux Lamy syndrome, rapidly progressing form", "label_ja": "マロトー・ラミー症候群（重症型）", "yomigana": "まろとーらみーしょうこうぐん（じゅうしょうがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200109", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal heart valve morphology | Abnormal metaphysis morphology | Anterior wedging of L1 | Anterior wedging of L2 | Arthralgia | Autosomal recessive inheritance | Avascular necrosis | Broad ribs | Caesarean section | Cardiomyopathy | Carious teeth | Cervical myelopathy | Childhood onset | Chronic constipation | Chronic otitis media | Coarse facial features | Cognitive impairment | Constrictive median neuropathy | Corneal opacity | Delayed eruption of teeth | Depressed nasal bridge | Dermatan sulfate excretion in urine | Disproportionate short-trunk short stature | Dolichocephaly | Dysostosis multiplex | Epiphyseal dysplasia | Failure to thrive | Flared iliac wing | Flexion contracture | Genu valgum | Glaucoma | Hearing impairment | Hepatomegaly | Hernia | Hip dysplasia | Hirsutism | Hydrocephalus | Hypoplasia of the odontoid process | Hypoplastic acetabulae | Hypoplastic iliac wing | Infantile onset | Inguinal hernia | Intellectual disability | Joint stiffness | Kyphoscoliosis | Kyphosis | Lumbar hyperlordosis | Macrocephaly | Macroglossia | Metaphyseal irregularity | Metaphyseal widening | Mitral regurgitation | Mitral stenosis | Mucopolysacchariduria | Opacification of the corneal stroma | Ovoid vertebral bodies | Pectus carinatum | Pneumonia | Prominent sternum | Pulmonary arterial hypertension | Pulmonic regurgitation | Recurrent upper respiratory tract infections | Restrictive ventilatory defect | Seizure | Short neck | Short stature | Sinus tachycardia | Sinusitis | Sleep apnea | Splenomegaly | Split hand | Thick lower lip vermilion | Thick nasal alae | Thickened skin | Tricuspid regurgitation | Umbilical hernia | Visual impairment" ], "symptoms_ja_list": [ "L1の前方楔 | L2の前方楔 | はと胸 | ヘルニア | ムコ多糖症 | 三尖弁逆流 | 不均衡性短躯低身長 | 低身長 | 僧帽弁狭窄 | 僧帽弁逆流 | 分厚い下口唇唇紅部 | 分厚い皮膚 | 分厚い鼻翼 | 副鼻腔炎 | 卵形椎体骨 | 反復性上気道感染症 | 収縮性正中神経ニューロパチー | 外反膝 | 多毛 | 多発性異骨症 | 大頭 | 寛骨臼低形成 | 尿中硫酸デルマタン排泄 | 屈曲拘縮 | 巨舌 | 帝王切開 | 常染色体潜性遺伝 | 幅広い肋骨 | 後側弯 | 後弯 | 循環器系の形態異常 | 心弁の異常 | 心筋症 | 慢性中耳炎 | 慢性便秘 | 成長障害 (成長不全) | 拘束性肺疾患 | 歯状突起低形成 | 歯萠出遅延 | 水頭症 | 洞性頻拍 | 無菌性壊死 | 発作 | 目立つ胸骨 | 睡眠時無呼吸 | 知的障害 | 短い頸部 | 粗な顔貌 | 緑内障 | 肝腫 | 股関節異形成 | 肺不全 | 肺炎 | 肺高血圧 | 脾腫 | 腰椎前弯 hyperlordosis | 腸骨翼フレア | 腸骨翼低形成 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 裂手 | 視力障害 | 角膜混濁 | 角膜間質混濁形成 | 認知障害 | 長頭 | 関節拘縮 | 関節痛 | 難聴 | 頚髄ミエロパチー | 骨幹端の異常 | 骨幹端不規則性 | 骨幹端拡大 | 骨端異形成 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2201043", "label_en": "Dilated phase of hypertrophic cardiomyopathy", "label_ja": "拡張相肥大型心筋症", "yomigana": "かくちょうそうひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201043", "notificationNumber": "88", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100054", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200430", "label_en": "Mixed connective tissue disease", "label_ja": "混合性結合組織病", "yomigana": "こんごうせいけつごうそしきびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200430", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100155", "symptoms_en_list": [ "Abnormal EKG | Abnormal pulmonary interstitial morphology | Alopecia | Anasarca | Arthralgia | Arthritis | Autoimmunity | Avascular necrosis | Chest pain | Decreased total leukocyte count | Depression | Dyspnea | Edema of the dorsum of hands | Elevated erythrocyte sedimentation rate | Erythema nodosum | Fatigue | Fever | Gastritis | Gastroesophageal reflux | Gastrointestinal hemorrhage | Headache | Hearing impairment | Hemolytic anemia | Hypoproteinemia | Increased circulating immunoglobulin concentration | Joint stiffness | Joint swelling | Keratoconjunctivitis sicca | Lymphadenopathy | Mediastinal lymphadenopathy | Membranous nephropathy | Myalgia | Myocarditis | Myositis | Nephropathy | Oral ulcer | Osteolysis | Pericardial effusion | Pericarditis | Peripheral neuropathy | Pleuritis | Prolonged bleeding time | Proteinuria | Psychosis | Pulmonary arterial hypertension | Pulmonary fibrosis | Purpura | Rheumatoid factor positive | Sclerodactyly | Scleroderma | Seizure | Skin rash | Splenomegaly | Telangiectasia | Thrombocytopenia | Trigeminal neuralgia | Xerostomia" ], "symptoms_ja_list": [ "うつ | リウマチ因子陽性 | リンパ節腫大 | 三叉神経痛 | 乾燥性 | 低タンパク血症 | 全身性浮腫 | 共通 | 口内乾燥症 | 口腔潰瘍 | 呼吸困難 | 強指症 | 強皮症 | 心外膜滲出液 | 心外膜炎 | 心筋炎 | 心電図異常 | 末梢神経ニューロパチー | 毛細血管拡張 | 浮腫 (手背) | 溶血性貧血 | 無菌性壊死 | 疲労 | 発作 | 発熱 | 白血球減少症 | 皮膚発疹 | 禿頭 | 筋炎 | 筋痛 | 精神病 | 紫斑 | 結節性紅斑 | 縦隔リンパ節腫大 | 肺線維症 | 肺高血圧 | 胃炎 | 胃腸出血 | 胃食道逆流 | 胸膜炎 | 脾腫 | 腎症 | 膜性腎症 | 自己免疫 | 蛋白尿 | 血小板減少 | 赤沈値上昇 | 遷出血時間遷延 | 間質性肺疾患 | 関節拘縮 | 関節炎 | 関節痛 | 関節腫脹 | 難聴 | 頭痛 | 骨融解 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:1200172", "label_en": "Female adrenoleukodystrophy", "label_ja": "副腎白質ジストロフィー（女性発症者）", "yomigana": "ふくじんはくしつじすとろふぃー（じょせいはっしょうしゃ）", "url": "http://nanbyodata.jp/ontology/NANDO_1200172", "notificationNumber": "20", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100255", "label_en": "obsolete Microvillus inclusion disease", "label_ja": "obsolete 微絨毛封入体病", "yomigana": "びじゅうもうふうにゅうたいびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100255", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200461", "label_en": "Diabetes mellitus type 2", "label_ja": "2型糖尿病", "yomigana": "2がたとうにょうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200461", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [ "Autosomal dominant inheritance | Insulin resistance | Late onset | Maturity-onset diabetes of the young | Type II diabetes mellitus" ], "symptoms_ja_list": [ "II 型糖尿病 | インスリン抵抗性 | 常染色体顕性遺伝 | 若年発症成人型糖尿病" ] }, { "id": "NANDO:1200662", "label_en": "Arima syndrome", "label_ja": "有馬症候群", "yomigana": "ありましょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200662", "notificationNumber": "177", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormality of neuronal migration | Abnormality of the hypothalamus-pituitary axis | Aganglionic megacolon | Agenesis of cerebellar vermis | Anemia | Anteverted nares | Aplasia/Hypoplasia of the corpus callosum | Apnea | Ataxia | Atypical behavior | Autistic behavior | Autosomal recessive inheritance | Biparietal narrowing | Blindness | Brainstem dysplasia | Cerebellar vermis hypoplasia | Chorioretinal coloboma | Cirrhosis | Dilated fourth ventricle | Dyspnea | Encephalocele | Esophageal varix | Foot polydactyly | Generalized hypotonia | Global developmental delay | Gray matter heterotopia | Growth delay | Hand polydactyly | Hematuria | Hepatic fibrosis | Hepatic steatosis | Hepatomegaly | Highly arched eyebrow | Hydrocephalus | Hypertension | Hypoplasia of the brainstem | Hypotonia | Intellectual disability | Iris coloboma | Long face | Molar tooth sign on MRI | Nephronophthisis | Nephropathy | Nystagmus | Occipital meningocele | Optic atrophy | Polycystic kidney dysplasia | Polydipsia | Polyuria | Postaxial foot polydactyly | Postaxial hand polydactyly | Posteriorly rotated ears | Prominent nasal bridge | Proteinuria | Ptosis | Renal corticomedullary cysts | Renal insufficiency | Renal sodium wasting | Renal tubular atrophy | Retinal dystrophy | Scoliosis | Seizure | Severe intellectual disability | Stage 5 chronic kidney disease | Strabismus | Tachypnea | Tubulointerstitial fibrosis | Undetectable electroretinogram | Visual impairment | Wide mouth" ], "symptoms_ja_list": [ "MRI での大臼歯サイン | コロボーマ | ステージ5慢性腎疾患 | ニューロン移動の異常 | ネフロン癆 | 上向きの鼻孔 | 両頭頂径狭小 | 事後性多趾症 | 側弯 | 全般性発達遅滞 | 全身性筋緊張低下 | 呼吸困難 | 喉頭髄膜瘤 | 多呼吸 | 多嚢胞性腎異形成 | 多尿 | 多指症 | 多趾症 | 多飲 | 小脳虫部低形成 | 小脳虫部無発生 | 尿細管萎縮 | 尿細管間質 線維症 | 常染色体潜性遺伝 | 幅広い口 | 循環器系の形態異常 | 成長遅滞 | 斜視 | 水頭症 | 無呼吸 | 無神経節性巨大結腸 | 発作 | 目立つ鼻梁 | 盲 | 眼振 | 眼瞼下垂 | 知的障害 | 知的障害", "重度 | 第4脳室拡大 | 筋緊張低下 | 組織異所発生 | 網膜ジストロフィー | 網膜電図 (ERG) 廃絶 | 耳介後方回転 | 肝硬変 | 肝線維症 | 肝腫 | 脂肪肝 | 脈絡膜網膜コロボーマ | 脳幹低形成 | 脳幹異形成 | 脳梁無形成/低形成 | 脳瘤 | 腎不全 | 腎性ナトリウム喪失 | 腎症 | 腎皮質髄質嚢胞 | 自閉性行動 | 蛋白尿 | 血尿 | 行動異常 | 視力障害 | 視床下部-下垂体軸異常 | 視神経萎縮 | 貧血 | 軸後性多指症 | 運動失調 | 長い顔 | 食道静脈瘤 | 高位の弓形眉毛 | 高血圧" ] }, { "id": "NANDO:1200913", "label_en": "Biliary atresia", "label_ja": "胆道閉鎖症", "yomigana": "たんどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200913", "notificationNumber": "296", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abnormal facial shape | Acholic stools | Atretic gallbladder | Bile duct proliferation | Cholestasis | Cirrhosis | Conjugated hyperbilirubinemia | Decreased liver function | Elevated circulating alkaline phosphatase concentration | Elevated circulating hepatic transaminase concentration | Failure to thrive | Fat malabsorption | Hepatomegaly | Hypothyroidism | Jaundice | Ophthalmoplegia | Periportal fibrosis | Prolonged neonatal jaundice | Prolonged prothrombin time | Pruritus | Seizure | Severe failure to thrive | Small for gestational age | Splenomegaly | Xanthelasma" ], "symptoms_ja_list": [ "アルカリホスファターゼ上昇 | プロトロンビン時間遷延 | 在胎月齢より小さい児 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 掻痒 | 無胆汁便 | 甲状腺機能低下症 | 異常な顔の形 | 発作 | 眼筋麻痺 | 肝トランスアミナーゼ上昇 | 肝機能低下 | 肝硬変 | 肝腫 | 胆嚢閉鎖 | 胆汁うっ滞 | 胆管増殖 | 脂肪吸収不全 | 脾腫 | 遷延性新生児黄疸 | 重度の成長障害 (成長不全) | 門脈周囲線維症 | 黄疸 | 黄色板症" ] }, { "id": "NANDO:2200612", "label_en": "Megaloblastic anemia", "label_ja": "巨赤芽球性貧血", "yomigana": "きょせきがきゅうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200612", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100176", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201113", "label_en": "PAI-1 deficiency", "label_ja": "PAI-1 欠乏症", "yomigana": "ぷらすみのーげんあくちべーたいんひびたー1けつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201113", "notificationNumber": "347", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal bleeding | Autosomal dominant inheritance | Autosomal recessive inheritance | Congenital onset | Epidural hemorrhage | Epistaxis | Gastrointestinal hemorrhage | Hemoperitoneum | Intracranial hemorrhage | Intramuscular hematoma | Joint hemorrhage | Menorrhagia | Miscarriage | Myocardial fibrosis | Persistent bleeding after trauma | Poor wound healing | Post-partum hemorrhage | Premature birth | Prolonged bleeding after dental extraction | Prolonged bleeding after surgery | Spontaneous hematomas | Subcutaneous hemorrhage" ], "symptoms_ja_list": [ "傷治癒不全 | 外傷後の持続性出血 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 心筋線維症 | 抜歯後の遷延性出血 | 早産 | 月経痛 | 産後出血 | 異常な出血 | 皮下出血 | 硬膜外出血 | 筋内血腫 | 胃腸出血 | 腹腔内出血 | 自然流産 | 自然血管腫 | 術後の遷延性出血 | 関節出血 | 頭蓋内出血 | 鼻出血" ] }, { "id": "NANDO:2100150", "label_en": "Other endocrine disease", "label_ja": "内分泌疾患を伴うその他の症候群", "yomigana": "ないぶんぴつしっかんをともなうそのほかのしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100150", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200721", "label_en": "Membranous nephropathy", "label_ja": "膜性腎症", "yomigana": "まくせいじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200721", "notificationNumber": "222", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100068", "label_en": "Coronary aneurysms complicated with Kawasaki disease", "label_ja": "川崎病性冠動脈瘤", "yomigana": "かわさきびょうせいかんどうみゃくりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2100068", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100286", "label_en": "Xeroderma pigmentosum", "label_ja": "色素性乾皮症", "yomigana": "しきそせいかんぴしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100286", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201383", "label_en": "Recessive dystrophic epidermolysis bullosa, generalized severe", "label_ja": "劣性重症汎発型栄養障害型表皮水疱症", "yomigana": "れっせいじゅうしょうはんぱつがたえいようしょうがいがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201383", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal esophagus morphology | Abnormal respiratory system morphology | Abnormal scalp morphology | Abnormality of the eye | Abnormality of the urinary system | Abnormality of vitamin metabolism | Alopecia | Anal fissure | Anemia | Ankyloglossia | Anonychia | Anxiety | Aplasia cutis congenita | Atrophic scars | Autosomal recessive inheritance | Basal cell carcinoma | Carious teeth | Cataract | Chronic kidney disease | Chronic pain | Congenital onset | Conjunctivitis | Constipation | Corneal erosion | Corneal scarring | Cutaneous melanoma | Decreased circulating vitamin D concentration | Decreased plasma total carnitine | Delayed puberty | Depression | Dilated cardiomyopathy | Dysphagia | Enamel hypoplasia | Esophageal stricture | Esophageal ulceration | Flexion contracture | Foot joint contracture | Fragile skin | Gastroesophageal reflux | Gastrointestinal inflammation | Generalized abnormality of skin | Glomerulonephritis | Growth delay | IgA deposition in the glomerulus | Infantile onset | Iron deficiency anemia | Malnutrition | Milia | Mitten deformity | Nail dysplasia | Nail dystrophy | Narrow mouth | Oral mucosal blisters | Osteopenia | Osteoporosis | Palmoplantar keratoderma | Recurrent skin infections | Renal amyloidosis | Renal insufficiency | Spontaneous esophageal perforation | Squamous cell carcinoma | Urethral stricture | Urinary bladder sphincter dysfunction | Visual loss" ], "symptoms_ja_list": [ "IgA 沈着 (糸球体) | うつ | ビタミンD欠乏症 | ビタミン代謝の異常 | ミトン変形 | 不安 | 便秘 | 先天性皮膚無形成 | 全身性皮膚異常 | 反復性皮膚感染症 | 口腔粘膜水泡 | 呼吸器運動性繊毛の異常 | 嚥下障害 | 基底細胞癌 | 尿路異常 | 尿道胸抱く | 屈曲拘縮 | 常染色体潜性遺伝 | 思春期遅発 | 慢性疼痛 | 慢性腎疾患 | 成長遅滞 | 拡張型心筋症 | 掌蹠角皮症 | 栄養失調 | 歯エナメル質低形成 | 無爪症 | 爪ジストロフィー | 爪異形成 | 狭い口 | 異常な皮膚水泡 | 白内障 | 皮膚黒色腫 | 眼の異常 | 禿頭 | 稗粒腫 | 糸球体腎炎 | 結膜炎 | 肛門裂 | 胃腸炎症 | 胃食道逆流 | 脆い皮膚 | 腎アミロイド症 | 腎不全 | 膀胱括約筋機能障害 | 自然食道穿孔 | 舌癒着 | 萎縮性瘢痕 | 血漿総カルニチン減少 | 視力喪失 | 角膜びらん | 角膜瘢痕 | 貧血 | 足関節の拘縮 | 鉄欠乏症貧血 | 頭皮の異常 | 食道の異常 | 食道潰瘍 | 食道胸抱く | 骨減少症 | 骨粗鬆症 | 齲歯" ] }, { "id": "NANDO:1200150", "label_en": "Neuronal ceroid-lipofuscinosis", "label_ja": "セロイドリポフスチノーシス", "yomigana": "せろいどりぽふすちのーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200150", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200360", "label_en": "Anhidrotic ectodermal dysplasia with immunodeficiency", "label_ja": "免疫不全を伴う無汗性外胚葉形成異常症", "yomigana": "めんえきふぜんをともなうむかんせいがいはいようけいせいいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200360", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal circulating immunoglobulin concentration | Autoimmunity | Chronic diarrhea | Conical tooth | Decreased circulating IgA concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased circulating immunoglobulin concentration | Ectodermal dysplasia | Eczematoid dermatitis | Failure to thrive | Feeding difficulties in infancy | Growth delay | Hypohidrosis | Increased circulating IgE concentration | Increased circulating IgG concentration | Increased circulating IgM concentration | Increased total B cell count | Increased total T cell count | Inflammation of the large intestine | Nail dystrophy | Osteopenia | Pedal edema | Recurrent bacterial infections | Recurrent mucocutaneous candidiasis | Recurrent mycobacterial infections | Recurrent otitis media | Recurrent sinusitis | Sparse hair" ], "symptoms_ja_list": [ "B 細胞数増加 | IgA欠乏症 | IgE 値増加 | IgG 値増加 | IgG欠乏症 | IgM 値増加 | IgM欠乏症 | T 細胞数増加 | 低ガンマグロブリン血症 | 免疫グロブリン値異常 | 円錐型切歯 | 反復性マイコバクテリウム感染症 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性細菌感染症 | 外胚葉形成不全 | 大腸の炎症 | 慢性下痢 | 慢性粘膜皮膚カンジダ症 | 成長遅滞 | 成長障害 (成長不全) | 浮腫 (下肢) | 減汗症 | 湿疹 | 爪ジストロフィー | 疎な毛髪 | 自己免疫 | 食餌摂取障害 in infancy | 骨減少症" ] }, { "id": "NANDO:2100214", "label_en": "Neuromuscular disease", "label_ja": "神経・筋疾患", "yomigana": "しんけい・きんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100214", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200104", "label_en": "Sanfilippo disease type D", "label_ja": "サンフィリッポ症候群D型", "yomigana": "さんふぃりっぽしょうこうぐんでぃーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200104", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Absent speech | Achilles tendon contracture | Aggressive behavior | Agitation | Anteverted nares | Asymmetric septal hypertrophy | Autosomal recessive inheritance | Brisk reflexes | Broad alveolar ridges | Broad palm | Cellular metachromasia | Cerebellar atrophy | Childhood onset | Coarse facial features | Coarse hair | Deeply set eye | Delayed speech and language development | Depressed nasal bridge | Diarrhea | Drooling | Dysarthria | Dysostosis multiplex | Dysphagia | Elbow flexion contracture | Epiphyseal dysplasia | Facial hirsutism | Frontal bossing | Gait disturbance | Global developmental delay | Growth abnormality | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hip dysplasia | Hirsutism | Hyperactivity | Hypertelorism | Hypoplastic vertebral bodies | Infantile onset | Inguinal hernia | Intellectual disability | Joint stiffness | Low-set ears | Macrocephaly | Macroglossia | Mitral regurgitation | Nyctalopia | Oppositional defiant disorder | Ovoid thoracolumbar vertebrae | Pes cavus | Pilonidal sinus | Progressive | Prominent forehead | Recurrent otitis media | Recurrent upper respiratory tract infections | Restlessness | Seizure | Short neck | Short stature | Sleep disturbance | Splenomegaly | Synophrys | Thick eyebrow | Thick lower lip vermilion | Thick vermilion border | Thickened ribs | Thoracic scoliosis | Visual impairment | Wide mouth" ], "symptoms_ja_list": [ "アキレス腱拘縮 | 上向きの鼻孔 | 下痢 | 不穏 | 不穏状態 | 両眼隔離 | 低身長 | 僧帽弁逆流 | 全般性発達遅滞 | 凹足 | 分厚い下口唇唇紅部 | 分厚い唇紅部縁 | 分厚い眉毛 | 前頭突出", "額突出 | 卵形胸腰椎 | 反射活発 | 反復性上気道感染症 | 反復性中耳炎 | 嚥下障害 | 多動 | 多毛 | 多発性異骨症 | 夜盲症 | 大頭 | 小脳萎縮 | 尿中硫酸ヘパラン排泄 | 巨舌 | 常染色体潜性遺伝 | 幅広い口 | 幅広い手掌 | 幅広い歯槽隆起 | 成長異常 | 攻撃的行動 | 敵対的反抗疾患 | 椎体骨低形成 | 構音障害 | 歩行障害 | 毛巣洞 | 流涎 | 発作 | 発語および言語発達遅延 | 発語欠損 | 目立つ額 | 睡眠障害 | 知的障害 | 短い頸部 | 粗い毛髪 | 粗な顔貌 | 細胞異染性 | 耳介低位 | 肋骨肥厚 | 肘屈曲拘縮 | 肝腫 | 股関節異形成 | 胸部側弯 | 脾腫 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 視力障害 | 連続眉毛 | 関節拘縮 | 難聴 | 非対称性中隔肥大 | 顔面多毛 | 骨端異形成 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200336", "label_en": "Atrophic thyroiditis", "label_ja": "萎縮性甲状腺炎", "yomigana": "いしゅくせいこうじょうせんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200336", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200577", "label_en": "Pelizaeus-Merzbacher like disease", "label_ja": "ペリツェウス・メルツバッハ様病１", "yomigana": "ぺりつぇうす・めるつばっはようびょう1", "url": "http://nanbyodata.jp/ontology/NANDO_1200577", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200938", "label_en": "Portal hypertension", "label_ja": "門脈圧亢進症", "yomigana": "もんみゃくあつこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200938", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100269", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201077", "label_en": "Pseudohypoparathyroidism type 1C", "label_ja": "偽性副甲状腺機能低下症Ic型", "yomigana": "ぎせいふくこうじょうせんきのうていかしょう1しーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201077", "notificationNumber": "236", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abdominal symptom | Anxiety | Autosomal dominant inheritance | Basal ganglia calcification | Brachydactyly | Broad distal phalanx of the thumb | Calcinosis | Cataract | Cerebral calcification | Chest pain | Choroid plexus calcification | Cognitive impairment | Confusion | Conjunctivitis | Constrictive median neuropathy | Decreased response to growth hormone stimulation test | Delayed eruption of teeth | Depressed nasal bridge | Depression | Dyspnea | Ectopic ossification | Elevated circulating parathyroid hormone level | Elevated circulating thyroid-stimulating hormone concentration | Enamel hypoplasia | Full cheeks | Hypergonadotropic hypogonadism | Hyperphosphatemia | Hypocalcemia | Hypocalcemic seizures | Hypocalcemic tetany | Hypogonadism | Hyporeflexia | Hypothyroidism | Increased bone mineral density | Intellectual disability | Irritability | Laryngeal dystonia | Low urinary cyclic AMP response to PTH administration | Muscle spasm | Myoclonic spasms | Nystagmus | Obesity | Oligomenorrhea | Osteoporosis | Paresthesia | Pituitary resistance to thyroid hormone | Polyphagia | Prolonged QT interval | Pseudohypoparathyroidism | Reduced circulating prolactin concentration | Round face | Seizure | Short 3rd metacarpal | Short 4th metacarpal | Short 5th metacarpal | Short fifth metatarsal | Short metacarpal | Short metatarsal | Short neck | Short stature" ], "symptoms_ja_list": [ "PTH 投与への尿中 cyclic AMP反応の低下 | うつ | プロラクチン欠乏症 | ミオクローヌス性スパスム | 不安 | 丸い顔 | 低カルシウム血症 | 低カルシウム血症性テタニー | 低カルシウム血症性発作 | 低身長 | 偽性副甲状腺機能低下症 | 共通 | 反射低下 | 収縮性正中神経ニューロパチー | 呼吸困難 | 喉頭ジストニア | 基底核石灰化 | 大きな頬 | 大脳石灰化 | 希発月経 | 常染色体顕性遺伝 | 幅広い母指末節骨 | 循環性副甲状腺ホルモン(PTH) 値上昇 | 性腺機能低下症 | 感覚異常 | 成長ホルモン欠乏症 | 歯エナメル質低形成 | 歯萠出遅延 | 甲状腺ホルモンへの下垂体抵抗性 | 甲状腺刺激ホルモン過剰症 | 甲状腺機能低下症 | 異所性骨化 | 発作 | 白内障 | 眼振 | 知的障害 | 短い中手骨 | 短い中足骨 | 短い第3中手骨 | 短い第4中手骨 | 短い第5中手骨 | 短い第5中足骨 | 短い頸部 | 短指症候群 | 石灰症 | 筋けいれん | 結膜炎 | 肥満 | 脈絡膜叢石灰化 | 腹部症状 | 落ちくぼんだ鼻梁 | 被刺激性 | 認知障害 | 過食症 | 遷延性 QT 間隔 | 錯乱 | 骨ミネラル濃度の増加 | 骨粗鬆症 | 高ゴナドトロピン性性腺機能低下症 | 高リン血漿" ] }, { "id": "NANDO:3000005", "label_en": "Proteinuria group", "label_ja": "タンパク尿群", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_3000005", "notificationNumber": "", "obsolete": 1, "category": "other", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200739", "label_en": "Syndromic multisystem autoimmune disease due to Itch deficiency", "label_ja": "ITCH欠損症", "yomigana": "あいてぃーしーえいちけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200739", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Abnormal facial shape | Abnormal intestine morphology | Acute hepatic failure | Anti-smooth muscle antibody positivity | Antineutrophil antibody positivity | Autoimmune neutropenia | Autoimmunity | Autosomal recessive inheritance | Camptodactyly | Choanal atresia | Chronic diarrhea | Chronic lung disease | Cirrhosis | Convex nasal ridge | Decreased circulating IgA concentration | Delayed skeletal maturation | Dolichocephaly | Failure to thrive in infancy | Feeding difficulties in infancy | Floppy infant | Frontal bossing | Gastroesophageal reflux | Gastrostomy tube feeding in infancy | Generalized hypotonia | Global developmental delay | Hallux valgus | Hashimoto thyroiditis | Hepatitis | Hepatomegaly | Hepatosplenomegaly | Hypersplenism | Hypertelorism | Hypothyroidism | Hypotonia | Increased vertebral height | Limited elbow extension | Low hanging columella | Low-set ears | Lumbar hyperlordosis | Midface retrusion | Motor delay | Pancytopenia | Pectus excavatum | Portal hypertension | Posteriorly rotated ears | Prominent occiput | Proptosis | Ptosis | Recurrent infections | Recurrent respiratory infections | Relative macrocephaly | Short chin | Short philtrum | Short stature | Single transverse palmar crease | Slender long bone | Splenomegaly | Thoracic kyphoscoliosis | Thyroiditis | Type I diabetes mellitus" ], "symptoms_ja_list": [ "I 型糖尿病 | IgA欠乏症 | 両眼隔離 | 乳児期の成長障害 (成長不全) | 乳児期の胃瘻管栄養 | 乳児筋性筋緊張低下 | 低い垂れ下がった鼻小柱 | 低身長 | 全般性発達遅滞 | 全身性筋緊張低下 | 凸の鼻梁 | 前頭突出", "額突出 | 反復性呼吸器感染症 | 反復性感染症 | 外反母趾 | 屈指 | 常染色体潜性遺伝 | 平滑筋 抗体陽性 | 後鼻孔閉鎖 | 急性肝不全 | 慢性下痢 | 慢性肺疾患 | 手掌横線 | 抗好中球抗体陽性 | 橋本甲状腺炎 | 比較的大頭 | 汎血球減少症 | 漏斗胸 | 甲状腺機能低下症 | 甲状腺炎 | 異常な顔の形 | 目立つ後頭 | 眼球突出 | 眼瞼下垂 | 短い下顎 | 短い人中 | 筋緊張低下 | 細い長管骨 | 耳介低位 | 耳介後方回転 | 肘伸展制限 | 肝炎 | 肝硬変 | 肝脾腫 | 肝腫 | 胃食道逆流 | 胸部後側弯 | 脊椎高の増加 | 脾機能亢進 | 脾腫 | 腰椎前弯 hyperlordosis | 腸の異常 | 自己免疫 | 自己免疫性好中球減少症 | 運動発達遅滞 | 長頭 | 門脈圧亢進 | 顔面中部後退 | 食餌摂取障害 in infancy | 骨格骨化遅延" ] }, { "id": "NANDO:1200441", "label_en": "Autoimmune hepatitis", "label_ja": "自己免疫性肝炎", "yomigana": "じこめんえきせいかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200441", "notificationNumber": "95", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abdominal pain | Acute hepatitis | Anti-smooth muscle antibody positivity | Antineutrophil antibody positivity | Antinuclear antibody positivity | Anxiety | Arthralgia | Arthritis | Ascites | Chronic fatigue | Cirrhosis | Depression | Diffuse hepatic steatosis | Elevated circulating hepatic transaminase concentration | Fulminant hepatitis | Gastrointestinal hemorrhage | Glomerulonephritis | Hepatocellular carcinoma | Increased circulating IgG concentration | Increased circulating immunoglobulin concentration | Increased total bilirubin | Inflammation of the large intestine | Jaundice | Spider hemangioma | Splenomegaly | Thyroiditis | Ulcerative colitis | Viral hepatitis | Vitiligo" ], "symptoms_ja_list": [ "IgG 値増加 | うつ | くも状血管腫 | びまん性脂肪肝 | ウイルス性肝炎 | 不安 | 大腸の炎症 | 平滑筋 抗体陽性 | 急性肝炎 | 慢性疲労 | 抗好中球抗体陽性 | 抗核抗体陽性 | 潰瘍性大腸炎 | 激症肝炎 | 甲状腺炎 | 白斑 | 糸球体腎炎 | 総ビリルビン増加 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝細胞癌 | 胃腸出血 | 脾腫 | 腹水 | 腹痛 | 関節炎 | 関節痛 | 高ガンマグロブリン血症 | 黄疸" ] }, { "id": "NANDO:2201168", "label_en": "Hurler disease", "label_ja": "Hurler病", "yomigana": "はーらーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201168", "notificationNumber": "129", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal CNS myelination | Abnormal aortic valve morphology | Abnormal clavicle morphology | Abnormal diaphysis morphology | Abnormal epiphysis morphology | Abnormal heart valve morphology | Abnormal hip bone morphology | Abnormal metaphysis morphology | Abnormal nasal morphology | Abnormal pyramidal sign | Abnormal rib morphology | Abnormal skin pigmentation | Abnormal tendon morphology | Abnormal vertebral body morphology | Abnormal vertebral morphology | Abnormality of the elbow | Abnormality of the face | Abnormality of the skeletal system | Abnormality of the tonsils | Abnormality of the voice | Angina pectoris | Anteverted nares | Aortic regurgitation | Apnea | Arthralgia | Autosomal recessive inheritance | Avascular necrosis | Biconcave vertebral bodies | Bilateral ptosis | Broad nasal tip | C1-C2 subluxation | Calvarial hyperostosis | Camptodactyly of finger | Cardiomyopathy | Cerebral palsy | Chronic diarrhea | Chronic otitis media | Coarse facial features | Congestive heart failure | Constrictive median neuropathy | Corneal opacity | Cough | Coxa valga | Cranial hyperostosis | Death in infancy | Depressed nasal bridge | Depression | Dermatan sulfate excretion in urine | Developmental regression | Diaphyseal undertubulation | Dolichocephaly | Dysostosis multiplex | Endocardial fibroelastosis | Enlarged thorax | Everted lower lip vermilion | Feeding difficulties | Flared iliac wing | Flexion contracture | Frontal bossing | Full cheeks | Generalized hirsutism | Gingival overgrowth | Glaucoma | Global developmental delay | Growth delay | Hearing impairment | Hemiplegia/hemiparesis | Heparan sulfate excretion in urine | Hepatomegaly | Hepatosplenomegaly | Hernia | Hirsutism | Hydrocephalus | Hypertelorism | Hypertension | Hypertrophic cardiomyopathy | Hypoplasia of the femoral head | Hypoplasia of the odontoid process | Hypotonia | Inguinal hernia | Intellectual disability | J-shaped sella turcica | Joint dislocation | Joint stiffness | Kyphosis | Large face | Limitation of joint mobility | Low anterior hairline | Macrocephaly | Macroglossia | Malabsorption | Metaphyseal widening | Microdontia | Mitral regurgitation | Mucopolysacchariduria | Narrow pelvis bone | Neurodegeneration | Opacification of the corneal stroma | Optic atrophy | Paresthesia | Progressive neurologic deterioration | Protuberant abdomen | Recurrent otitis media | Recurrent respiratory infections | Retinal degeneration | Retinopathy | Rhinitis | Scoliosis | Sensorineural hearing impairment | Short clavicles | Short neck | Short stature | Sinusitis | Skeletal dysplasia | Sleep disturbance | Spastic paraparesis | Spinal canal stenosis | Splenomegaly | Split hand | Thick eyebrow | Thick lower lip vermilion | Thick nasal alae | Thick vermilion border | Umbilical hernia | Urinary glycosaminoglycan excretion | Visual impairment | Wide nasal bridge | Widely spaced teeth" ], "symptoms_ja_list": [ "C1-C2 亜脱臼 | J字型トルコ鞍 | うっ血性心不全 | うつ | ヘルニア | ムコ多糖症 | 上向きの鼻孔 | 下口唇唇紅部外反 | 両側性眼瞼下垂 | 両凹の椎体骨 | 両眼隔離 | 低い前部毛髪線 | 低身長 | 側弯 | 僧帽弁逆流 | 全般性発達遅滞 | 全身性多毛 | 分厚い下口唇唇紅部 | 分厚い唇紅部縁 | 分厚い眉毛 | 分厚い鼻翼 | 前頭突出", "額突出 | 副鼻腔炎 | 反復性中耳炎 | 反復性呼吸器感染症 | 収縮性正中神経ニューロパチー | 吸収障害 | 声の異常 | 外反股 | 外層 | 多毛 | 多発性異骨症 | 大きな頬 | 大きな顔 | 大動脈弁の異常 | 大動脈逆流 | 大腿骨頭低形成 | 大頭 | 寛骨の異常 | 小歯 | 尿中グリコサミノグリカン排泄 | 尿中硫酸デルマタン排泄 | 尿中硫酸ヘパラン排泄 | 屈指 | 屈曲拘縮 | 巨舌 | 常染色体潜性遺伝 | 幅広い鼻尖 | 幅広い鼻梁 | 後弯 | 心内膜線維弾性症 | 心弁の異常 | 心筋症 | 感覚異常 | 感音難聴 | 慢性下痢 | 慢性中耳炎 | 成長遅滞 | 扁桃の異常 | 椎体骨形態異常 | 歯状突起低形成 | 歯肉過成長 | 歯間隔離 | 水頭症 | 無呼吸 | 無菌性壊死 | 片麻痺/片側不全麻痺 | 狭い骨盤 | 狭心症 | 異常な中枢神経髄鞘形成 | 異常な鼻形態 | 痙性対不全麻痺 | 発達退行 | 皮膚色素の異常 | 睡眠障害 | 知的障害 | 短い鎖骨 | 短い頸部 | 神経変性 | 筋緊張低下 | 粗な顔貌 | 網膜変性 | 網膜症 | 緑内障 | 肋骨の異常 | 肘異常 | 肝脾腫 | 肝腫 | 肥大型心筋症 | 胸郭拡大 | 脊椎の異常 | 脊椎管狭窄 | 脳性麻痺 | 脾腫 | 腱形態異常 | 腸骨翼フレア | 腹部突出 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 裂手 | 視力障害 | 視神経萎縮 | 角膜混濁 | 角膜間質混濁形成 | 進行性神経学的悪化 | 錐体路運動機能の異常 | 鎖骨の異常 | 長頭 | 関節拘縮 | 関節痛 | 関節脱臼 | 関節運動制限 | 難聴 | 頭蓋冠過骨症 | 頭蓋骨過骨症 | 顔の異常 | 食餌摂取障害 | 骨幹の肥厚 | 骨幹形態異常 | 骨幹端の異常 | 骨幹端拡大 | 骨格の異常 | 骨格異形成 | 骨端の異常 | 高血圧 | 鼠径ヘルニア | 鼻炎" ] }, { "id": "NANDO:2200492", "label_en": "Propionic acidemia", "label_ja": "プロピオン酸血症", "yomigana": "ぷろぴおんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200492", "notificationNumber": "106", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormality of immune system physiology | Acute encephalopathy | Anemia | Apnea | Arrhythmia | Autosomal recessive inheritance | Axial hypotonia | Cardiomyopathy | Cerebellar hemorrhage | Cerebral atrophy | Coma | Constipation | Decreased total neutrophil count | Dehydration | Dystonia | Eczematoid dermatitis | Failure to thrive | Feeding difficulties in infancy | Global developmental delay | Hepatomegaly | Hyperammonemia | Hyperglycinemia | Hyperglycinuria | Hypoglycemia | Intellectual disability | Lactic acidosis | Lethargy | Limb hypertonia | Metabolic acidosis | Organic aciduria | Osteoporosis | Pancreatitis | Pancytopenia | Poor appetite | Propionyl-CoA carboxylase deficiency | Seizure | Short stature | Tachypnea | Thrombocytopenia | Vomiting" ], "symptoms_ja_list": [ "Propionyl-CoA carboxylase 欠乏症 | ジストニア | 不整脈 | 乳酸性アシドーシス | 代謝性アシドーシス | 低血糖 | 低身長 | 体幹の筋緊張低下 | 便秘 | 免疫系生理の異常 | 全般性発達遅滞 | 嘔吐 | 四肢筋緊張亢進 | 多呼吸 | 大脳萎縮 | 好中球減少症 | 小脳出血 | 常染色体潜性遺伝 | 心筋症 | 急性脳症 | 成長障害 (成長不全) | 昏睡 | 有機酸尿 | 汎血球減少症 | 湿疹 | 無呼吸 | 無気力 | 発作 | 知的障害 | 肝腫 | 脱水 | 膵炎 | 血小板減少 | 貧血 | 食思不振 | 食餌摂取障害 in infancy | 骨粗鬆症 | 高アンモニア血症 | 高グリシン尿 | 高グリシン血症" ] }, { "id": "NANDO:1200253", "label_en": "Type II a Takayasu arteritis", "label_ja": "高安動脈炎（IIa型）", "yomigana": "たかやすどうみゃくえん（2えーがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200253", "notificationNumber": "40", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200596", "label_en": "Aromatic L-amino acid decarboxylase deficiency", "label_ja": "芳香族L－アミノ酸脱炭酸酵素欠損症", "yomigana": "ほうこうぞくえるあみのさんだつたんさんこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200596", "notificationNumber": "55", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100170", "symptoms_en_list": [ "Abnormality of the face | Apnea | Athetosis | Atypical behavior | Autistic behavior | Autosomal recessive inheritance | Axial hypotonia | Babinski sign | Blepharospasm | Cardiorespiratory arrest | Choreoathetosis | Constipation | Decreased CSF homovanillic acid concentration | Diarrhea | Diminished deep tendon reflex | Diminished movement | Drooling | Dysarthria | Dyskinesia | Dysphagia | Dystonia | EEG abnormality | Emotional lability | Exaggerated startle response | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Gastroesophageal reflux | Global developmental delay | Hyperhidrosis | Hyperreflexia | Hypoglycemia | Hypokinesia | Hypotension | Hypotonia | Increased circulating prolactin concentration | Infantile onset | Intellectual disability | Intermittent hypothermia | Irritability | Lethargy | Limb dystonia | Limb hypertonia | Limb tremor | Miosis | Motor delay | Myoclonus | Nasal congestion | Oculogyric crisis | Poor head control | Ptosis | Seizure | Short stature | Sleep disturbance | Temperature instability | Tongue thrusting | Torticollis | Tremor" ], "symptoms_ja_list": [ "Babinski サイン | アテトーゼ | ジスキネジア | ジストニア | プロラクチン過剰症 | ミオクローヌス | 下痢 | 低血圧 | 低血糖 | 低身長 | 体幹の筋緊張低下 | 体温不安定 | 便秘 | 全般性発達遅滞 | 反射亢進 | 嚥下障害 | 四肢ジストニア | 四肢振戦 | 四肢筋緊張亢進 | 多汗 | 常染色体潜性遺伝 | 心肺停止 | 情動不安定 | 成長障害 (成長不全) | 振戦 | 斜頚 | 構音障害 | 注視クリーゼ | 流涎 | 無呼吸 | 無気力 | 発作 | 眼瞼スパスム | 眼瞼下垂 | 睡眠障害 | 知的障害 | 筋緊張低下 | 縮瞳 | 胃食道逆流 | 脳波異常 | 腱反射減少 | 自閉性行動 | 舌突出 | 舞踏病アテトーゼ | 行動異常 | 被刺激性 | 誇張された驚愕反応 | 運動減少 | 運動発達遅滞 | 間歇的低体温 | 頸定不全 | 顔の異常 | 食餌摂取障害 | 食餌摂取障害 in infancy | 髄液ホモバニリン酸(HVA)減少 | 鼻閉" ] }, { "id": "NANDO:2200385", "label_en": "Hypergonadotropic hypogonadism of other etiologies", "label_ja": "63及び64に掲げるもののほか、高ゴナドトロピン性性腺機能低下症", "yomigana": "63および64にかかげるもののほか、こうごなどとろぴんせいせいせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200385", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100139", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200865", "label_en": "Atypical familial Mediterranean fever", "label_ja": "家族性地中海熱非典型例", "yomigana": "かぞくせいちちゅうかいねつひてんけいれい", "url": "http://nanbyodata.jp/ontology/NANDO_1200865", "notificationNumber": "266", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200477", "label_en": "N-acetylglutamate synthetase deficiency", "label_ja": "N-アセチルグルタミン酸合成酵素欠損症", "yomigana": "えぬあせちるぐるたみんさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200477", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Acute hyperammonemia | Aggressive behavior | Agitation | Alkalosis | Anorexia | Anxiety | Ataxia | Atypical behavior | Autosomal recessive inheritance | Cerebral ischemia | Cognitive impairment | Coma | Confusion | Diarrhea | Drowsiness | Echolalia | Emotional lability | Encephalopathy | Failure to thrive | Fatigue | Feeding difficulties | Floppy infant | Global developmental delay | Headache | Hepatomegaly | Hyperalaninemia | Hyperammonemia | Hyperglutaminemia | Hypertonia | Hypothermia | Insomnia | Lethargy | Loss of consciousness | Low plasma citrulline | Microcephaly | Motor stereotypy | Myelodysplasia | Nausea | Neonatal onset | Paraplegia | Polyneuropathy | Poor appetite | Poor speech | Psychotic episodes | Respiratory distress | Reye syndrome-like episodes | Seizure | Stroke | Tachypnea | Vomiting" ], "symptoms_ja_list": [ "Reye 症様エピソード | アルカローシス | ポリニューロパチー | 下痢 | 不全麻痺 | 不安 | 不眠 | 不穏 | 乳児筋性筋緊張低下 | 低体温 | 全般性発達遅滞 | 卒中 | 反響言語 | 吐気 | 呼吸窮迫 | 嘔吐 | 多呼吸 | 大脳虚血 | 小頭 | 常同行動 | 常染色体潜性遺伝 | 急性高アンモニア血症 | 情動不安定 | 意識喪失 | 成長障害 (成長不全) | 攻撃的行動 | 昏睡 | 無気力 | 疲労 | 発作 | 発語不全 | 眠気 | 筋緊張亢進 | 精神病エピソード | 肝腫 | 脳症 | 血症シトルリン低値 | 行動異常 | 認知障害 | 運動失調 | 錯乱 | 頭痛 | 食思不振 | 食餌摂取障害 | 骨髄異形成 | 高アラニン血症 | 高アンモニア血症 | 高グルタミン血症" ] }, { "id": "NANDO:2200004", "label_en": "Acute myeloid leukemia with minimal differentiation", "label_ja": "急性骨髄性白血病、最未分化", "yomigana": "きゅうせいこつずいせいはっけつびょう、さいみぶんか", "url": "http://nanbyodata.jp/ontology/NANDO_2200004", "notificationNumber": "71", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200046", "label_en": "Hepatoblastoma", "label_ja": "肝芽腫", "yomigana": "かんがしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200046", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201146", "label_en": "Late-onset medium-chain acyl-CoA dehydrogenase deficiency", "label_ja": "遅発型中鎖アシルCoA脱水素酵素欠損症", "yomigana": "ちはつがたちゅうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201146", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200200", "label_en": "Chronic relapsing-remitting subacute sclerosing panencephalitis", "label_ja": "慢性再発−寛解型亜急性硬化性全脳炎", "yomigana": "まんせいさいはつ-かんかいがたあきゅうせいこうかせいぜんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200200", "notificationNumber": "24", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200620", "label_en": "Sjögren-Larsson syndrome", "label_ja": "シェーグレン・ラルソン症候群", "yomigana": "しぇーぐれん・らるそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200620", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal dental enamel morphology | Abnormal hair morphology | Abnormal nail morphology | Abnormal pyramidal sign | Abnormal retinal pigmentation | Abnormal speech pattern | Astigmatism | Autosomal recessive inheritance | CNS demyelination | Color vision defect | Congenital onset | Corneal erosion | Dry skin | Dysarthria | Enamel hypoplasia | Erythema | Flexion contracture | Generalized hyperpigmentation | Hyperkeratosis | Hypotonia | Ichthyosis | Inflammatory abnormality of the eye | Intellectual disability | Joint stiffness | Kyphosis | Macular degeneration | Microcephaly | Myopia | Opacification of the corneal epithelium | Photophobia | Reduced visual acuity | Retinal pigment epithelial atrophy | Retinopathy | Scoliosis | Seizure | Short stature | Skeletal dysplasia | Spastic diplegia | Spastic paraparesis | Spasticity | Thoracic kyphosis | Urticaria" ], "symptoms_ja_list": [ "中心視力減少 | 中枢神経脱髄 | 乱視 | 乾いた皮膚 | 低身長 | 側弯 | 全身性高色素 | 小頭 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弯 | 構音障害 | 歯エナメル質低形成 | 歯エナメル質異常 | 毛髪の異常 | 爪の異常 | 痙性 | 痙性両麻痺 | 痙性対不全麻痺 | 発作 | 眼の炎症性異常 | 知的障害 | 神経学的発語障害 | 筋緊張低下 | 紅斑 | 網膜症 | 網膜色素上皮喪失 | 網膜色素異常 | 羞明 | 胸部後弯 | 色覚異常 | 蕁麻疹 | 角膜びらん | 角膜上皮混濁形成 | 近視 | 過角化症 | 錐体路運動機能の異常 | 関節拘縮 | 骨格異形成 | 魚鱗癬 | 黄斑変性" ] }, { "id": "NANDO:2200958", "label_en": "Cornelia de Lange syndrome", "label_ja": "コルネリア・デランゲ症候群", "yomigana": "こるねりあ・でらんげしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200958", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal speech pattern | Abnormality of the uterus | Abnormally low-pitched voice | Anteverted nares | Anxiety | Aplasia/Hypoplasia of the cerebellum | Atresia of the external auditory canal | Atrial septal defect | Attention deficit hyperactivity disorder | Autism | Bilateral single transverse palmar creases | Blepharitis | Brachycephaly | Cataract | Cerebral cortical atrophy | Choanal atresia | Cleft palate | Clinodactyly of the 5th finger | Compulsive behaviors | Conductive hearing impairment | Congenital diaphragmatic hernia | Cryptorchidism | Curly eyelashes | Cutis marmorata | Delayed eruption of teeth | Delayed puberty | Delayed skeletal maturation | Depressed nasal bridge | Downturned corners of mouth | Elbow dislocation | Failure to thrive | Feeding difficulties in infancy | Gastroesophageal reflux | Generalized hirsutism | Glaucoma | High palate | Highly arched eyebrow | Hip dislocation | Hip dysplasia | Hypertonia | Hypoplasia of penis | Hypoplastic labia majora | Hypoplastic nipples | Hypospadias | Hypotonia | Increased nuchal translucency | Intellectual disability | Intestinal malrotation | Intrauterine growth retardation | Joint stiffness | Long eyelashes | Long philtrum | Low anterior hairline | Low posterior hairline | Macrotia | Microcephaly | Microcornea | Micrognathia | Micromelia | Multicystic kidney dysplasia | Myopia | Nystagmus | Oligodactyly | Pectus excavatum | Peripheral neuropathy | Phthisis bulbi | Posteriorly rotated ears | Premature birth | Prenatal movement abnormality | Primary amenorrhea | Proximal placement of thumb | Ptosis | Pyloric stenosis | Radioulnar synostosis | Renal insufficiency | Seizure | Sensorineural hearing impairment | Severe intellectual disability | Severe postnatal growth retardation | Short 1st metacarpal | Short foot | Short neck | Short nose | Short stature | Sleep disturbance | Small hand | Strabismus | Synophrys | Talipes | Thick eyebrow | Thin vermilion border | Toe syndactyly | Truncal obesity | Ventricular septal defect | Ventriculomegaly | Vesicoureteral reflux | Volvulus | Widely spaced teeth" ], "symptoms_ja_list": [ "カールした睫毛 | 上向きの鼻孔 | 不安 | 両側性単一手掌横線 | 乏指趾症 | 乳頭低形成 | 伝音難聴 | 低い前部毛髪線 | 低身長 | 体幹肥満 | 停留精巣 | 先天性横隔膜ヘルニア | 全身性多毛 | 出生前の運動異常 | 分厚い眉毛 | 原発性無月経 | 口蓋裂 | 口角下垂 | 合趾症 | 外耳道閉鎖 | 多嚢胞腎異形成 | 大理石皮膚 | 大耳 | 大脳皮質萎縮 | 大陰唇低形成 | 子宮内成長遅滞 | 子宮異常 | 小さい手 | 小肢症 | 小脳無形成/低形成 | 小角膜 | 小頭 | 小顎 | 尖足 | 尿道下裂 | 幽門狭窄 | 強迫性行動 | 後部毛髪線低位 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 思春期遅発 | 感音難聴 | 成長障害 (成長不全) | 斜視 | 早産 | 末梢神経ニューロパチー | 橈尺骨癒合 | 歯萠出遅延 | 歯間隔離 | 注意力欠陥多動性疾患 | 漏斗胸 | 異常に低音の声 | 発作 | 白内障 | 眼振 | 眼球癆 | 眼瞼下垂 | 眼瞼炎 | 睡眠障害 | 知的障害 | 知的障害", "重度 | 短い第1中手骨 | 短い足 | 短い頸部 | 短い鼻 | 短頭 | 神経学的発語障害 | 第5指弯指 | 筋緊張亢進 | 筋緊張低下 | 緑内障 | 耳介後方回転 | 肘脱臼 | 股関節異形成 | 股関節脱臼 | 胃食道逆流 | 脳室拡大 | 腎不全 | 腸回転異常 | 腸捻転 | 膀胱尿管逆流 | 自閉症 | 落ちくぼんだ鼻梁 | 薄い唇紅部縁 | 近位母指 | 近視 | 連続眉毛 | 重度の生後の成長遅滞 | 長い人中 | 長い睫毛 | 関節拘縮 | 陰茎低形成 | 項部透過性増加 | 食餌摂取障害 in infancy | 骨格骨化遅延 | 高位の弓形眉毛 | 高口蓋" ] }, { "id": "NANDO:2201213", "label_en": "Classical Fabry disease", "label_ja": "古典型ファブリー病", "yomigana": "こてんがたふぁぶりーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201213", "notificationNumber": "124", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200579", "label_en": "18q-syndrome", "label_ja": "18q欠失症候群", "yomigana": "18きゅーけっしつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200579", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal facial shape | Abnormal myelination | Abnormal palmar dermatoglyphics | Abnormal retinal morphology | Absence of the pulmonary valve | Aortic aneurysm | Aortic valve stenosis | Arachnodactyly | Ascending tubular aorta aneurysm | Asthma | Astrocytoma | Atlantoaxial abnormality | Atopic dermatitis | Atresia of the external auditory canal | Atrial septal defect | Autosomal dominant inheritance | Bifid uvula | Bilateral conductive hearing impairment | Bilateral cryptorchidism | Biparietal narrowing | Blepharophimosis | Broad-based gait | Bulbous nose | Cerebellar hypoplasia | Choanal stenosis | Chorea | Choreoathetosis | Cleft palate | Cleft upper lip | Conductive hearing impairment | Congestive heart failure | Cryptorchidism | Decreased circulating IgA concentration | Decreased response to growth hormone stimulation test | Decreased secretory IgA concentration | Delayed CNS myelination | Delayed skeletal maturation | Depressed nasal bridge | Diffuse white matter abnormalities | Downslanted palpebral fissures | Downturned corners of mouth | Dysplastic aortic valve | Dysplastic pulmonary valve | Epicanthus | Failure to thrive | Failure to thrive in infancy | Generalized hypotonia | Global developmental delay | Growth delay | Hearing impairment | High palate | Hydrocephalus | Hypertelorism | Hyporeflexia | Hypospadias | Hypothyroidism | Hypotonia | Incoordination | Inguinal hernia | Intellectual disability | Intrauterine growth retardation | Joint hypermobility | Kyphoscoliosis | Left aortic arch with right descending aorta and right ductus arteriosus | Left-to-right shunt | Low anterior hairline | Macrotia | Malar flattening | Mandibular prognathia | Microcephaly | Micropenis | Midface retrusion | Mild intellectual disability | Mitral regurgitation | Motor delay | Myopia | Neonatal hypotonia | Nystagmus | Open mouth | Optic atrophy | Overlapping toe | Patent ductus arteriosus | Pectus excavatum | Pes cavus | Pes planus | Prominent nose | Proximal placement of thumb | Pulmonary valve defects | Recurrent respiratory infections | Rocker bottom foot | Rod-cone dystrophy | Scoliosis | Secondary growth hormone deficiency | Secundum atrial septal defect | Seizure | Sensorineural hearing impairment | Short neck | Short palpebral fissure | Short philtrum | Short stature | Slender build | Sporadic | Stenosis of the external auditory canal | Strabismus | Talipes equinovarus | Tapered finger | Thick vermilion border | Thin upper lip vermilion | Toe syndactyly | Tremor | U-Shaped upper lip vermilion | Umbilical hernia | Ventricular septal defect | Ventriculomegaly | Wide mouth" ], "symptoms_ja_list": [ "IgA欠乏症 | U字型上口唇唇紅部 | うっ血性心不全 | くも指 | びまん性白質異常 | アトピー性皮膚炎 | 上口唇裂 | 上行大動脈拡張 | 下顎突出 | 両側性伝音難聴 | 両側性停留精巣 | 両眼隔離 | 両頭頂径狭小 | 中枢神経髄鞘形成遅延 | 乳児期の成長障害 (成長不全) | 二分した口蓋垂 | 二次口心房中隔欠損症 | 二次性成長ホルモン欠乏症 | 伝音難聴 | 低い前部毛髪線 | 低身長 | 停留精巣 | 側弯 | 僧帽弁逆流 | 先細りの指 | 全般性発達遅滞 | 全身性筋緊張低下 | 内反尖足 | 内眼角贅皮 | 凹足 | 分厚い唇紅部縁 | 分泌型 IgA欠乏症 | 動脈管開存症 | 協調運動障害 | 反射低下 | 反復性呼吸器感染症 | 口蓋裂 | 口角下垂 | 右下行大動脈と右動脈管を伴う左側大動脈弓 | 合趾症 | 喘息 | 外耳道狭窄 | 外耳道閉鎖 | 大動脈弁狭窄 | 大動脈弁異形成 | 大動脈瘤 | 大耳 | 大脳白質の異常 | 子宮内成長遅滞 | 孤発性 | 小脳低形成 | 小陰茎 | 小頭 | 尿道下裂 | 左-右シャントunt | 常染色体顕性遺伝 | 幅広い口 | 幅広歩行 | 平坦な頬 | 後側弯 | 後鼻孔狭窄 | 心室中隔欠損 | 心房中隔欠損 | 感音難聴 | 成長ホルモン欠乏症 | 成長遅滞 | 成長障害 (成長不全) | 扁平足 | 手掌皮膚紋理異常 | 振戦 | 揺り椅子状足底 | 斜視 | 新生児筋緊張低下 | 星状細胞腫 | 水頭症 | 漏斗胸 | 球状の鼻 | 環軸椎異常 | 甲状腺機能低下症 | 異常な顔の形 | 異常な髄鞘形成 | 発作 | 目立つ鼻 | 眼振 | 眼瞼裂斜下 | 眼瞼裂狭小 | 知的障害 | 知的障害", "軽度 | 短い人中 | 短い眼瞼裂 | 短い頸部 | 筋緊張低下 | 細い体型 | 網膜の異常 | 肺動脈弁奇形 | 肺動脈弁欠損 | 肺動脈弁異形成 | 脳室拡大 | 臍ヘルニア | 舞踏病 | 舞踏病アテトーゼ | 色素性網膜炎 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 視神経萎縮 | 趾の重なり | 近位母指 | 近視 | 運動発達遅滞 | 開口 | 関節過動 | 難聴 | 顔面中部後退 | 骨格骨化遅延 | 高口蓋 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200401", "label_en": "Vitamin D-dependent rickets", "label_ja": "ビタミンD依存性くる病", "yomigana": "びたみんでぃーいぞんせいくるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200401", "notificationNumber": "76", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100144", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201115", "label_en": "Disorder of thrombomodulin/thrombin-activatable fibrinolysis inhibitor", "label_ja": "TM/TAFI 異常症", "yomigana": "とろんぼもじゅりん/とろんびんかっせいか せんよう そがい いんしいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201115", "notificationNumber": "347", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Adult onset | Autosomal dominant inheritance | Deep venous thrombosis | Hypercoagulability | Pulmonary embolism" ], "symptoms_ja_list": [ "凝固促進 | 常染色体顕性遺伝 | 深部静脈血栓症 | 肺塞栓症" ] }, { "id": "NANDO:1200603", "label_en": "Rett syndrome", "label_ja": "レット症候群", "yomigana": "れっとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200603", "notificationNumber": "156", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal T-wave | Abnormal autonomic nervous system physiology | Abnormal muscle tone | Abnormal pattern of respiration | Abnormality of the dentition | Absent speech | Agitation | Apnea | Autistic behavior | Bradykinesia | Bruxism | Cachexia | Cerebral cortical atrophy | Childhood onset | Cholecystitis | Constipation | Developmental regression | Dystonia | EEG abnormality | Failure to thrive | Floppy infant | Gait apraxia | Gait ataxia | Gait disturbance | Gastroesophageal reflux | Global developmental delay | Growth delay | Hyperammonemia | Inability to walk | Increased CSF lactate | Increased circulating lactate concentration | Increased circulating pyruvate concentration | Intermittent hyperventilation | Kyphosis | Motor deterioration | Motor stereotypy | Primary microcephaly | Profound intellectual disability | Progressive language deterioration | Progressive microcephaly | Prolonged QTc interval | Scoliosis | Secondary microcephaly | Seizure | Short foot | Short stature | Skeletal muscle atrophy | Sleep disturbance | Spasticity | Stereotypical hand wringing | Truncal ataxia | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | ジストニア | 不穏 | 乳児筋性筋緊張低下 | 低身長 | 体幹失調 | 便秘 | 側弯 | 先天性小頭 | 全般性発達遅滞 | 呼吸パターンの異常 | 大脳皮質萎縮 | 常同的手絞り動作 | 常同行動 | 後弯 | 心電図: T-波異常 | 悪液質 (カヘキシー) | 成長遅滞 | 成長障害 (成長不全) | 歩行不能 | 歩行失行 | 歩行失調 | 歩行障害 | 歯ぎしり | 歯の異常 | 無呼吸 | 生後の小頭 | 異常な筋緊張 | 異常な自律神経生理 | 痙性 | 発作 | 発語欠損 | 発達退行 | 睡眠障害 | 知的障害", "最重度 | 短い足 | 筋萎縮 | 胃食道逆流 | 胆嚢炎 | 脳波異常 | 自閉性行動 | 血清ピルビン酸増加 | 血清乳酸増加 | 進行性小頭 | 進行性言語悪化 | 運動発達悪化 | 運動緩徐 | 遷延性 QTc 間隔 | 間歇的過換気 | 髄液乳酸増加 | 高アンモニア血症" ] }, { "id": "NANDO:2100280", "label_en": "Chromosome abnormality", "label_ja": "染色体または遺伝子に変化を伴う症候群", "yomigana": "せんしょくたいまたはいでんしにへんかをともなうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100280", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100279", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100197", "label_en": "Protein C deficiency", "label_ja": "先天性プロテインC欠乏症", "yomigana": "せんてんせいぷろていんしーけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100197", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200699", "label_en": "Complete transposition of the great arteries", "label_ja": "完全大血管転位症", "yomigana": "かんぜんだいけっかんてんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200699", "notificationNumber": "209", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal atrioventricular conduction | Abnormal atrioventricular valve morphology | Abnormal heart morphology | Abnormal left ventricular outflow tract morphology | Abnormal tricuspid valve morphology | Ambiguous atrioventricular connection | Aortic regurgitation | Arrhythmia | Atrial flutter | Atrial septal defect | Atrial situs ambiguous | Atrial situs inversus | Bilateral superior vena cava with bridging vein | Bradycardia | Congestive heart failure | Cyanosis | Dextrocardia | Discordant atrioventricular connection | Double aortic arch | Double outlet left ventricle | Easy fatigability | Ebstein anomaly of the tricuspid valve | Failure to thrive | First degree atrioventricular block | Food intolerance | Gerbode ventricular septal defect | Global systolic dysfunction | Heart block | Mesocardia | Mobitz I atrioventricular block | Patent ductus arteriosus | Perimembranous ventricular septal defect | Premature atrial contractions | Pulmonary artery atresia | Pulmonic stenosis | Right ventricular cardiomyopathy | Sick sinus syndrome | Single ventricle | Situs inversus totalis | Supraventricular tachycardia | Supraventricular tachycardia with an accessory connection mediated pathway | Third degree atrioventricular block | Tricuspid regurgitation | Ventricular septal defect | Ventricular tachycardia | Wolff-Parkinson-White syndrome" ], "symptoms_ja_list": [ "1度房室ブロック | 3度房室ブロック | Gerbode 心室中隔欠損 | Mobitz I 型房室ブロック | Wolff-Parkinson-White 症候群 | うっ血性心不全 | チアノーゼ | 三尖弁のEbstein 奇形 | 三尖弁の異常 | 三尖弁逆流 | 上室性頻拍 | 不整脈 | 不明瞭な房室結合 | 両大血管左室起始症 | 全内臓逆位 | 全身性収縮期機能障害 | 分枝静脈を伴う両側性上大静脈 | 副伝導路系を伴う上室性頻拍 | 動脈不定位 | 動脈管開存症 | 動脈逆位 | 単心室 | 右室心筋症 | 右胸心 | 大動脈逆流 | 左室拍出路の異常 | 徐脈 | 心ブロック | 心室中隔欠損 | 心室性 頻拍 | 心形態の異常 | 心房中隔欠損 | 心房粗動 | 成長障害 (成長不全) | 房室弁の異常 | 房室結合不一致 | 易疲労性 | 洞結節不全症候群 | 異常な房室電動 | 異所性上室律動 | 肺動脈狭窄 | 肺動脈閉鎖 | 胸郭中央位心臓 | 膜様部周囲心室中隔欠損 | 重複大動脈弓 | 食物不耐性" ] }, { "id": "NANDO:2100309", "label_en": "Acquired Idiopathic Generalized Anhidrosis", "label_ja": "特発性後天性全身性無汗症", "yomigana": "とくはつせいこうてんせいぜんしんせいむかんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100309", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100158", "label_en": "Diabetes", "label_ja": "糖尿病", "yomigana": "とうにょうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100158", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100157", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201097", "label_en": "Kartagener syndrome", "label_ja": "カルタゲナー症候群", "yomigana": "かるたげなーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201097", "notificationNumber": "340", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal atrial arrangement | Abnormal cardiovascular system morphology | Abnormal heart morphology | Abnormal sperm motility | Abnormality of the genitourinary system | Abnormality of the skeletal system | Airway obstruction | Anomalous pulmonary venous return | Asplenia | Atelectasis | Atrial situs ambiguous | Bronchiectasis | Chronic otitis media | Chronic rhinitis | Chronic sinusitis | Clubbing | Conductive hearing impairment | Delayed speech and language development | Double outlet right ventricle | Female infertility | Hearing impairment | Hydrocephalus | Intestinal malrotation | Male infertility | Morphological central nervous system abnormality | Nasal congestion | Nasal polyposis | Neonatal respiratory distress | Persistent left superior vena cava | Polysplenia | Pulmonary situs ambiguus | Recurrent mycobacterial infections | Recurrent otitis media | Recurrent sinopulmonary infections | Respiratory failure | Respiratory tract infection | Rod-cone dystrophy | Situs inversus totalis | Transposition of the great arteries | Ventriculomegaly" ], "symptoms_ja_list": [ "ばち状化 | 両大血管右室起始症 | 中枢神経の形態異常 | 伝音難聴 | 全内臓逆位 | 動脈不定位 | 反復性マイコバクテリウム感染症 | 反復性中耳炎 | 反復性副鼻腔肺感染症 | 呼吸不全 | 呼吸器感染 | 多脾症 | 大血管転位 | 女性不妊 | 循環器系の形態異常 | 心形態の異常 | 慢性中耳炎 | 慢性副鼻腔炎 | 慢性鼻炎 | 持続性左上大静脈 | 新生児呼吸窮迫 | 気管支拡張 | 水頭症 | 泌尿生殖器異常 | 無気肺 | 無脾症 | 男性不妊 | 異常な心房配置 | 発語および言語発達遅延 | 精子運動異常 | 肺内臓錯位 | 肺静脈還流異常 | 脳室拡大 | 腸回転異常 | 色素性網膜炎 | 閉塞性肺疾患 | 難聴 | 骨格の異常 | 鼻ポリープ症 | 鼻閉" ] }, { "id": "NANDO:2200904", "label_en": "Multiple sclerosis", "label_ja": "多発性硬化症", "yomigana": "たはつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200904", "notificationNumber": "62", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100250", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200228", "label_en": "Pemphigus", "label_ja": "天疱瘡", "yomigana": "てんぽうそう", "url": "http://nanbyodata.jp/ontology/NANDO_1200228", "notificationNumber": "35", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100023", "label_en": "Chronic renal failure", "label_ja": "慢性腎不全", "yomigana": "まんせいじんふぜん", "url": "http://nanbyodata.jp/ontology/NANDO_2100023", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201178", "label_en": "Mucopolysaccharidosis type IV A", "label_ja": "A型ムコ多糖症IV型", "yomigana": "えーがたむこたとうしょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201178", "notificationNumber": "132", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal heart valve morphology | Anterior beaking of lumbar vertebrae | Autosomal recessive inheritance | Carious teeth | Cervical myelopathy | Cervical subluxation | Chondroitin sulfate excretion in urine | Coarse facial features | Constricted iliac wing | Coxa valga | Disproportionate short-trunk short stature | Dysostosis multiplex | Epiphyseal deformities of tubular bones | Flaring of rib cage | Genu valgum | Grayish enamel | Hearing impairment | Hepatomegaly | Hyperlordosis | Hypoplasia of the odontoid process | Infantile onset | Inguinal hernia | Intellectual disability | Joint hypermobility | Juvenile onset | Keratan sulfate excretion in urine | Kyphosis | Lumbar kyphosis | Mandibular prognathia | Metaphyseal widening | Motor delay | Opacification of the corneal stroma | Osteoporosis | Ovoid vertebral bodies | Pectus carinatum | Platyspondyly | Pointed proximal second through fifth metacarpals | Prominent sternum | Recurrent pneumonia | Recurrent upper respiratory tract infections | Restrictive ventilatory defect | Scoliosis | Short neck | Ulnar deviation of the wrist | Waddling gait | Wide mouth | Widely spaced teeth" ], "symptoms_ja_list": [ "はと胸 | よたつき歩行 | 下顎突出 | 不均衡性短躯低身長 | 側弯 | 前弯 | 卵形椎体骨 | 反復性上気道感染症 | 反復性肺炎 | 外反股 | 外反膝 | 多発性異骨症 | 尖った第2-第4中手骨近位 | 尿中硫酸ケラタン排泄 | 尿中硫酸コンドロイチン排泄 | 常染色体潜性遺伝 | 幅広い口 | 後弯 | 心弁の異常 | 扁平脊椎 | 手関節の尺側偏位 | 拘束性肺疾患 | 歯状突起低形成 | 歯間隔離 | 灰色のエナメル質 | 目立つ胸骨 | 知的障害 | 短い頸部 | 管状骨骨端の変形 | 粗な顔貌 | 肋骨胸郭のフレア | 肝腫 | 腰椎のくちばし状前方突出 | 腰椎後弯 | 腸骨翼狭窄 | 角膜間質混濁形成 | 運動発達遅滞 | 関節過動 | 難聴 | 頚椎亜脱臼 | 頚髄ミエロパチー | 骨幹端拡大 | 骨粗鬆症 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:1201157", "label_en": "Karak syndrome", "label_ja": "Karak症候群", "yomigana": "からくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201157", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200001", "label_en": "B-cell precursor lymphoblastic leukemia", "label_ja": "前駆B細胞急性リンパ性白血病", "yomigana": "ぜんくびーさいぼうきゅうせいりんぱせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200001", "notificationNumber": "80", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200203", "label_en": "Primary ciliary dyskinesia", "label_ja": "線毛機能不全症候群", "yomigana": "せんもうきのうふぜんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200203", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100034", "symptoms_en_list": [ "Abnormal atrial arrangement | Abnormal cardiovascular system morphology | Abnormal heart morphology | Abnormal sperm motility | Abnormality of the genitourinary system | Abnormality of the skeletal system | Airway obstruction | Anomalous pulmonary venous return | Asplenia | Atelectasis | Atrial situs ambiguous | Bronchiectasis | Chronic otitis media | Chronic rhinitis | Chronic sinusitis | Clubbing | Conductive hearing impairment | Delayed speech and language development | Double outlet right ventricle | Female infertility | Hearing impairment | Hydrocephalus | Intestinal malrotation | Male infertility | Morphological central nervous system abnormality | Nasal congestion | Nasal polyposis | Neonatal respiratory distress | Persistent left superior vena cava | Polysplenia | Pulmonary situs ambiguus | Recurrent mycobacterial infections | Recurrent otitis media | Recurrent sinopulmonary infections | Respiratory failure | Respiratory tract infection | Rod-cone dystrophy | Situs inversus totalis | Transposition of the great arteries | Ventriculomegaly" ], "symptoms_ja_list": [ "ばち状化 | 両大血管右室起始症 | 中枢神経の形態異常 | 伝音難聴 | 全内臓逆位 | 動脈不定位 | 反復性マイコバクテリウム感染症 | 反復性中耳炎 | 反復性副鼻腔肺感染症 | 呼吸不全 | 呼吸器感染 | 多脾症 | 大血管転位 | 女性不妊 | 循環器系の形態異常 | 心形態の異常 | 慢性中耳炎 | 慢性副鼻腔炎 | 慢性鼻炎 | 持続性左上大静脈 | 新生児呼吸窮迫 | 気管支拡張 | 水頭症 | 泌尿生殖器異常 | 無気肺 | 無脾症 | 男性不妊 | 異常な心房配置 | 発語および言語発達遅延 | 精子運動異常 | 肺内臓錯位 | 肺静脈還流異常 | 脳室拡大 | 腸回転異常 | 色素性網膜炎 | 閉塞性肺疾患 | 難聴 | 骨格の異常 | 鼻ポリープ症 | 鼻閉" ] }, { "id": "NANDO:2201300", "label_en": "GAMT deficiency", "label_ja": "GAMT欠損症", "yomigana": "じーえーえむてぃーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201300", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100226", "symptoms_en_list": [ "Abnormal head movements | Abnormality of extrapyramidal motor function | Abnormality of movement | Absent speech | Aggressive behavior | Ataxia | Athetosis | Atonic seizure | Atypical behavior | Autism | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Chorea | Decreased serum creatinine | Delayed speech and language development | Developmental regression | Dystonia | Episodic vomiting | Febrile seizure (within the age range of 3 months to 6 years) | Floppy infant | Focal impaired awareness seizure | Generalized myoclonic seizure | Global developmental delay | Hyperactivity | Hyperreflexia | Hypertonia | Hypotonia | Infantile onset | Intellectual disability | Lower limb spasticity | Myoclonus | Paraparesis | Poor speech | Progressive extrapyramidal movement disorder | Rigidity | Seizure | Self-injurious behavior | Severe global developmental delay | Severe intellectual disability | Tremor" ], "symptoms_ja_list": [ "アテトーゼ | ジストニア | ミオクローヌス | 下肢痙性 | 不全対麻痺 | 乳児筋性筋緊張低下 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 反射亢進 | 嘔吐エピソード | 多動 | 常染色体潜性遺伝 | 意識または覚醒障害を伴う焦点性発作 | 振戦 | 攻撃的行動 | 熱性けいれん | 異常な頭部運動 | 発作 | 発語および言語発達遅延 | 発語不全 | 発語欠損 | 発達退行 | 知的障害 | 知的障害", "重度 | 硬直 | 筋緊張亢進 | 筋緊張低下 | 脱力発作 | 自傷行動 | 自閉症 | 舞踏病 | 血清クレアチニン減少 | 行動異常 | 進行性錐体外路運動異常 | 運動の異常 | 運動失調 | 重度の全般性発達遅滞 | 錐体外路運動機能の異常" ] }, { "id": "NANDO:2201433", "label_en": "Spinal muscular atrophy type IV", "label_ja": "脊髄性筋萎縮症IV型", "yomigana": "せきずいせいきんいしゅくしょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201433", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100231", "symptoms_en_list": [ "Areflexia of lower limbs | Autosomal recessive inheritance | Calf muscle hypertrophy | Centrally nucleated skeletal muscle fibers | Degeneration of anterior horn cells | EMG: neuropathic changes | Hand tremor | Increased variability in muscle fiber diameter | Muscle fiber necrosis | Proximal amyotrophy | Proximal muscle weakness | Quadriceps muscle atrophy | Rimmed vacuoles | Slowly progressive | Spinal muscular atrophy | Tongue fasciculations | Type 1 muscle fiber predominance | Waddling gait | Young adult onset" ], "symptoms_ja_list": [ "1型筋線維有意 | よたつき歩行 | 下肢無反射 | 中央核骨格筋線維 | 前角細胞変性 | 大腿四頭筋萎縮 | 常染色体潜性遺伝 | 手振戦 | 筋線維壊死 | 筋線維直径の多様性増加 | 筋電図: 神経症変化 | 縁取り空胞 | 脊髄性筋萎縮 | 腓腹筋肥大 | 舌線維束性収縮 | 近位筋萎縮 | 近位筋虚弱" ] }, { "id": "NANDO:1200953", "label_en": "Progressive myoclonus epilepsy", "label_ja": "進行性ミオクローヌスてんかん", "yomigana": "しんこうせいみおくろーぬすてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200953", "notificationNumber": "309", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201294", "label_en": "Salla disease", "label_ja": "サラ病", "yomigana": "さらびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201294", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Ataxia | Athetosis | Autosomal recessive inheritance | Delayed speech and language development | Dysarthria | Exotropia | Generalized hypotonia | Global developmental delay | Growth delay | Hypotonia | Inability to walk | Intellectual disability | Nystagmus | Seizure | Spasticity | Thickened calvaria | Vacuolated lymphocytes" ], "symptoms_ja_list": [ "アテトーゼ | 代謝/ホメオスターシスの異常 | 全般性発達遅滞 | 全身性筋緊張低下 | 分厚い頭蓋冠 | 外斜視 | 常染色体潜性遺伝 | 成長遅滞 | 構音障害 | 歩行不能 | 痙性 | 発作 | 発語および言語発達遅延 | 眼振 | 知的障害 | 空胞化リンパ球 | 筋緊張低下 | 運動失調" ] }, { "id": "NANDO:1201099", "label_en": "Metatropic dysplasia", "label_ja": "変容性骨異形成症", "yomigana": "へんようせいいこつけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201099", "notificationNumber": "341", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal cortical bone morphology | Abnormal enchondral ossification | Abnormal intervertebral disk morphology | Abnormal metaphyseal vascular invasion | Abnormal metaphysis morphology | Abnormal rib morphology | Abnormal vertebral body morphology | Absent primary metaphyseal spongiosa | Anisospondyly | Aplasia/Hypoplasia of the lungs | Arthrogryposis multiplex congenita | Autosomal dominant inheritance | Brachydactyly | Camptodactyly of finger | Cataract | Caudal appendage | Cleft palate | Clinodactyly of the 5th finger | Coarse metaphyseal trabecularization | Cone-shaped epiphysis | Cupped ribs | Decreased fetal movement | Delayed skeletal maturation | Depressed nasal bridge | Disproportionate short-limb short stature | Disproportionate short-trunk short stature | Dumbbell-shaped femur | Dumbbell-shaped metaphyses | Enlarged joints | Epiphyseal dysplasia | Fetal akinesia sequence | Flared femoral metaphysis | Flared humeral metaphysis | Flared iliac wing | Flared metaphysis | Flaring of rib cage | Flat acetabular roof | Flexion contracture | Genu valgum | Halberd-shaped pelvis | High forehead | Hydrocephalus | Hyperplasia of the femoral trochanters | Hypoplasia of the odontoid process | Hypoplastic cervical vertebrae | Joint stiffness | Kyphoscoliosis | Kyphosis | Long coccyx | Long thorax | Metaphyseal irregularity | Micromelia | Narrow chest | Narrow greater sciatic notch | Neonatal onset | Peripheral axonal neuropathy | Platyspondyly | Posteriorly rotated ears | Relatively short spine | Respiratory failure | Respiratory insufficiency | Scoliosis | Severe short stature | Short finger | Short ribs | Skeletal dysplasia" ], "symptoms_ja_list": [ "ダンベル型大腿骨 | ダンベル型骨幹端 | 一次骨幹端海綿体欠損 | 上腕骨骨幹端フレア | 不均衡型短肢低身長 | 不均衡性短躯低身長 | 側弯 | 先天性多発性関節拘縮 | 円錐骨端 | 口蓋裂 | 呼吸不全 | 外反膝 | 大腿骨転子過形成 | 大腿骨骨幹端フレア | 小肢症 | 尾部付属器 | 屈指 | 屈曲拘縮 | 常染色体顕性遺伝 | 平坦な寛骨臼蓋 | 後側弯 | 後弯 | 扁平脊椎 | 末梢神経軸索ニューロパチー | 杯状肋骨 | 椎体骨形態異常 | 椎間板の異常 | 歯状突起低形成 | 比較的短い脊椎 | 水頭症 | 狭い大仙坐骨切痕 | 狭い胸郭 | 白内障 | 短い指 | 短い肋骨 | 短指症候群 | 第5指弯指 | 粗い骨梁 | 耳介後方回転 | 肋骨の異常 | 肋骨胸郭のフレア | 肺無形成/低形成 | 胎児無動シークェンス | 胎動減少 | 脊椎骨不同 | 腸骨翼フレア | 落ちくぼんだ鼻梁 | 軟骨内骨化異常 | 重度の低身長 | 鉾槍型骨盤 | 長い尾骨 | 長い胸郭 | 関節の拡大 | 関節拘縮 | 頚椎低形成 | 骨幹端の異常 | 骨幹端フレア | 骨幹端不規則性 | 骨幹端血管侵入異常 | 骨格異形成 | 骨格骨化遅延 | 骨皮質形態異常 | 骨端異形成 | 高い額" ] }, { "id": "NANDO:1200279", "label_en": "Sjogren's syndrome", "label_ja": "シェーグレン症候群", "yomigana": "しぇーぐれんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200279", "notificationNumber": "53", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal cerebellum morphology | Abnormal pulmonary interstitial morphology | Abnormal spinal cord morphology | Abnormality of blood and blood-forming tissues | Abnormality of the kidney | Abnormality of the musculature | Abnormality of the nervous system | Abnormality of the skin | Airway obstruction | Anxiety | Arteritis | Arthralgia | Arthritis | Atypical behavior | Autoimmunity | Autosomal recessive inheritance | Biliary cirrhosis | Bronchitis | Chorea | Chronic active hepatitis | Chronic hepatitis | Chronic pain | Cognitive impairment | Corneal perforation | Cryoglobulinemia | Cutis marmorata | Decreased circulating complement C3 concentration | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total lymphocyte count | Dementia | Depression | Dry skin | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Enlargement of parotid gland | Erythema nodosum | Fatigue | Functional motor deficit | Glomerulonephritis | Increased circulating immunoglobulin concentration | Keratoconjunctivitis sicca | Lymphadenopathy | Lymphocytic interstitial pneumonia | Lymphoma | Lymphoproliferative disorder | Meningitis | Morphological central nervous system abnormality | Muscle weakness | Myalgia | Myositis | Normochromic anemia | Normocytic anemia | Optic neuritis | Parotitis | Peripheral neuropathy | Polyarticular arthropathy | Purpura | Reduced circulating complement concentration | Renal insufficiency | Rheumatoid arthritis | Rheumatoid factor positive | Seizure | Sensorimotor neuropathy | Skin rash | Skin ulcer | Somatic sensory dysfunction | Thrombocytopenia | Thyroiditis | Tubulointerstitial nephritis | Vasculitis | Vitiligo | Xerostomia" ], "symptoms_ja_list": [ "CRP 上昇 | Dementia | うつ | リウマチ因子陽性 | リオグロブリン血症 | リンパ増殖性疾患 | リンパ性間質性肺炎 | リンパ球減少症 | リンパ節腫大 | リンパ腫 | 不安 | 中枢神経の形態異常 | 乾いた皮膚 | 乾燥性 | 低ガンマグロブリン血症 | 動脈炎 | 口内乾燥症 | 多関節関節症 | 大理石皮膚 | 小脳の異常 | 尿細管間質性腎炎 | 常染色体潜性遺伝 | 性色素性貧血 | 感覚運動ニューロパチー | 感覚障害 | 慢性活動性肝炎 | 慢性疼痛 | 慢性肝炎 | 末梢神経ニューロパチー | 機能的筋異常 | 正球性貧血 | 気管支炎 | 甲状腺炎 | 疲労 | 発作 | 白斑 | 白血球減少症 | 皮膚の異常 | 皮膚潰瘍 | 皮膚発疹 | 神経系の異常 | 筋の異常 | 筋炎 | 筋痛 | 筋虚弱 | 糸球体腎炎 | 紫斑 | 結節性紅斑 | 耳下腺拡大 | 耳下腺炎 | 胆汁性肝硬変 | 脊髄の異常 | 腎不全 | 腎異常 | 自己免疫 | 舞踏病 | 血小板減少 | 血液および血液痙性組織の異常 | 血清補体 C3減少 | 血管炎 | 行動異常 | 補体欠乏症 | 視神経炎 | 角膜穿孔 | 認知障害 | 赤沈値上昇 | 閉塞性肺疾患 | 間質性肺疾患 | 関節リウマチ | 関節炎 | 関節痛 | 髄膜炎 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:1200578", "label_en": "Hypomyelination with atrophy of the basal ganglia and cerebellum", "label_ja": "基底核および小脳萎縮を伴う髄鞘形成不全症", "yomigana": "きていかくおよびしょうのういしゅくをともなうずいしょうけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200578", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [ "Ataxia | Autosomal dominant inheritance | Axial hypotonia | Cerebellar atrophy | Cerebral hypomyelination | Childhood onset | Choreoathetosis | Delayed speech and language development | Developmental regression | Dysarthria | Dystonia | Hypometric saccades | Hypotonia | Infantile onset | Intellectual disability | Leukodystrophy | Microcephaly | Motor delay | Nystagmus | Oculomotor apraxia | Optic atrophy | Poor speech | Progressive | Rigidity | Seizure | Short stature | Spasticity | Specific learning disability | Sporadic | Tremor | Visual impairment" ], "symptoms_ja_list": [ "ジストニア | ロイコジストロフィー | 低身長 | 体幹の筋緊張低下 | 大脳髄鞘低形成 | 孤発性 | 小脳萎縮 | 小頭 | 常染色体顕性遺伝 | 振戦 | 構音障害 | 測定過少性サッケード (断続性運動) | 特異的学習障害 | 痙性 | 発作 | 発語および言語発達遅延 | 発語不全 | 発達退行 | 眼振 | 眼球運動失行症 | 知的障害 | 硬直 | 筋緊張低下 | 舞踏病アテトーゼ | 視力障害 | 視神経萎縮 | 運動失調 | 運動発達遅滞" ] }, { "id": "NANDO:1201034", "label_en": "Guanidinoacetate methyltransferase deficiency", "label_ja": "グアニジノ酢酸メチル基転位酵素欠損症", "yomigana": "ぐあにじのさくさんめちるきてんいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201034", "notificationNumber": "334", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal head movements | Abnormality of extrapyramidal motor function | Abnormality of movement | Absent speech | Aggressive behavior | Ataxia | Athetosis | Atonic seizure | Atypical behavior | Autism | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Chorea | Decreased serum creatinine | Delayed speech and language development | Developmental regression | Dystonia | Episodic vomiting | Febrile seizure (within the age range of 3 months to 6 years) | Floppy infant | Focal impaired awareness seizure | Generalized myoclonic seizure | Global developmental delay | Hyperactivity | Hyperreflexia | Hypertonia | Hypotonia | Infantile onset | Intellectual disability | Lower limb spasticity | Myoclonus | Paraparesis | Poor speech | Progressive extrapyramidal movement disorder | Rigidity | Seizure | Self-injurious behavior | Severe global developmental delay | Severe intellectual disability | Tremor" ], "symptoms_ja_list": [ "アテトーゼ | ジストニア | ミオクローヌス | 下肢痙性 | 不全対麻痺 | 乳児筋性筋緊張低下 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 反射亢進 | 嘔吐エピソード | 多動 | 常染色体潜性遺伝 | 意識または覚醒障害を伴う焦点性発作 | 振戦 | 攻撃的行動 | 熱性けいれん | 異常な頭部運動 | 発作 | 発語および言語発達遅延 | 発語不全 | 発語欠損 | 発達退行 | 知的障害 | 知的障害", "重度 | 硬直 | 筋緊張亢進 | 筋緊張低下 | 脱力発作 | 自傷行動 | 自閉症 | 舞踏病 | 血清クレアチニン減少 | 行動異常 | 進行性錐体外路運動異常 | 運動の異常 | 運動失調 | 重度の全般性発達遅滞 | 錐体外路運動機能の異常" ] }, { "id": "NANDO:2100090", "label_en": "Left ventricular-right atrial communication", "label_ja": "左室右房交通症", "yomigana": "さしつうぼうこうつうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100090", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201462", "label_en": "Bilateral renal agenesis", "label_ja": "両側腎無発生", "yomigana": "りょうがわじんむはっせい", "url": "http://nanbyodata.jp/ontology/NANDO_2201462", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal intestine morphology | Abnormal morphology of female internal genitalia | Abnormal sacrum morphology | Cleft palate | Depressed nasal ridge | Epicanthus | Fetal polyuria | Hypertelorism | Low-set ears | Non-midline cleft of the upper lip | Nonketotic hypoglycemia | Oligohydramnios | Pulmonary hypoplasia | Renal agenesis | Sirenomelia | Tracheoesophageal fistula | Urogenital fistula" ], "symptoms_ja_list": [ "両眼隔離 | 人魚肢 | 仙骨の異常 | 内眼角贅皮 | 口蓋裂 | 女性内性器異常 | 循環器系の形態異常 | 気管食道瘻 | 泌尿生殖器瘻 | 羊水過少 | 耳介低位 | 肺低形成 | 胎児多尿 | 腎無発生 | 腸の異常 | 落ちくぼんだ鼻梁 | 非ケトン性低血糖 | 非正中口唇裂" ] }, { "id": "NANDO:2200943", "label_en": "Autoimmune pancreatitis", "label_ja": "自己免疫性膵炎", "yomigana": "じこめんえきせいすいえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200943", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100273", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201275", "label_en": "Congenital aplastic anemia", "label_ja": "先天性再生不良性貧血", "yomigana": "せんてんせいさいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2201275", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100201", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200561", "label_en": "obsolete Septo-optic dysplasia", "label_ja": "obsolete 中隔視神経形成異常症", "yomigana": "ちゅうかくししんけいけいせいいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200561", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200885", "label_en": "Congenital dyserythropoietic anemia", "label_ja": "先天性赤血球形成異常性貧血", "yomigana": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200885", "notificationNumber": "282", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200278", "label_en": "Supravalvular pulmonary stenosis", "label_ja": "肺動脈弁上狭窄症", "yomigana": "はいどうみゃくべんじょうきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200278", "notificationNumber": "80", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100094", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201124", "label_en": "Presymptomatic glutaric acidemia type 1", "label_ja": "発症前型グルタル酸血症1型", "yomigana": "はっしょうまえがたぐるたるさんけっしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201124", "notificationNumber": "97", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200184", "label_en": "Bilateral moyamoya disease", "label_ja": "もやもや病（両側型）", "yomigana": "もやもやびょう（りょうがわがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200184", "notificationNumber": "22", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200986", "label_en": "Infantile nonketotic hyperglycinemia", "label_ja": "乳児型非ケトーシス型高グリシン血症", "yomigana": "にゅうじがたひけとーしすがたこうぐりしんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200986", "notificationNumber": "321", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200009", "label_en": "Acute monocytic leukemia", "label_ja": "急性単球性白血病", "yomigana": "きゅうせいたんきゅうせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200009", "notificationNumber": "75", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [ "Abnormality of multiple cell lineages in the bone marrow | Acute monocytic leukemia | Anemia | Ankle swelling | Anorexia | Central hypothyroidism | Exertional dyspnea | Fatigue | Fever | Hypochromic anemia | Increased total leukocyte count | Increased total lymphocyte count | Oliguria | Periorbital edema | Progressive hearing impairment | Subcutaneous nodule | Typified by somatic mosaicism | Weight loss" ], "symptoms_ja_list": [ "リンパ球増多症 | 中枢性甲状腺機能低下症 | 乏尿 | 低色素性貧血 | 体細胞モザイク | 体重喪失 | 急性単球性白血病 | 疲労 | 発熱 | 白血球増多症 | 皮下結節 | 眼窩周囲浮腫 | 貧血 | 足関節腫大 | 進行性難聴 | 運動性呼吸困難 | 食思不振 | 骨髄の多細胞系の異常" ] }, { "id": "NANDO:2100228", "label_en": "Moyamoya disease", "label_ja": "もやもや病", "yomigana": "もやもやびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100228", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200454", "label_en": "obsolete NLRP12-associated periodic syndrome", "label_ja": "obsolete NLRP-12関連周期性症候群", "yomigana": "えぬえるあーるぴー12かんれんしゅうきせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200454", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100151", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200414", "label_en": "Infectious Addison's disease", "label_ja": "アジソン病（感染症）", "yomigana": "あじそんびょう（かんせんしょう）", "url": "http://nanbyodata.jp/ontology/NANDO_1200414", "notificationNumber": "83", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201148", "label_en": "DYT29 Dystonia", "label_ja": "DYT29 ジストニア", "yomigana": "でぃーわいてぃー29じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1201148", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of visual evoked potentials | Ataxia | Athetosis | Autosomal recessive inheritance | Axial dystonia | Babinski sign | Blepharospasm | Cerebellar atrophy | Cerebral atrophy | Childhood onset | Chorea | Clumsiness | Craniofacial dystonia | Decreased activity of mitochondrial complex I | Decreased activity of mitochondrial complex II | Decreased activity of mitochondrial complex IV | Delayed gross motor development | Dysarthria | Dyskinesia | Dysphagia | Dystonia | Elevated brain lactate level by MRS | Failure to thrive | Feeding difficulties | Gait disturbance | Headache | Hyperreflexia | Hypotonia | Involuntary movements | Juvenile onset | Limb dystonia | Limb joint contracture | Loss of ambulation | Motor delay | Muscle weakness | Myoclonus | Nystagmus | Optic atrophy | Optic disc pallor | Paroxysmal dyskinesia | Pigmentary retinopathy | Progressive | Reduced visual acuity | Rigidity | Slow saccadic eye movements | Spasticity | Visual impairment" ], "symptoms_ja_list": [ "Babinski サイン | MRSによる脳尿酸値上昇 | アテトーゼ | ジスキネジア | ジストニア | ミオクローヌス | ミトコンドリア複合体 I の活性減少 | ミトコンドリア複合体 II の活性減少 | ミトコンドリア複合体 IV の活性減少 | 不器用 | 不随意運動 | 中心視力減少 | 反射亢進 | 嚥下障害 | 四肢ジストニア | 四肢関節拘縮 | 大脳萎縮 | 小脳萎縮 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 構音障害 | 歩行障害 | 痙性 | 発作性ジスキネジア | 眼振 | 眼瞼スパスム | 硬直 | 筋緊張低下 | 筋虚弱 | 粗大運動発達遅延 | 緩徐なサッカード性眼球運動 | 舞踏病 | 色素性網膜症 | 視力障害 | 視神経杯蒼白 | 視神経萎縮 | 視覚誘発電位の異常 | 軸性ジストニア | 進行性歩行不安定 | 運動失調 | 運動発達遅滞 | 頭痛 | 頭蓋顔面ジストニア | 食餌摂取障害" ] }, { "id": "NANDO:2100022", "label_en": "Nephro- and urolithiasis", "label_ja": "腎尿管結石", "yomigana": "じんにょうかんけっせき", "url": "http://nanbyodata.jp/ontology/NANDO_2100022", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200005", "label_en": "Acute myeloid leukemia without maturation", "label_ja": "成熟を伴わない急性骨髄性白血病", "yomigana": "せいじゅくをともなわないきゅうせいこつずいせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200005", "notificationNumber": "79", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200970", "label_en": "Camurati-Engelmann disease", "label_ja": "カムラティ・エンゲルマン症候群", "yomigana": "かむらてぃ・えんげるまんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200970", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal diaphysis morphology | Abnormal facial shape | Abnormal femur morphology | Abnormal morphology of the radius | Abnormal pelvic girdle bone morphology | Abnormal skull morphology | Abnormal speech pattern | Abnormal subcutaneous fat tissue distribution | Abnormal tibia morphology | Abnormality of the vertebral column | Anemia | Anorexia | Aplasia/Hypoplasia of the radius | Ataxia | Autosomal dominant inheritance | Bone marrow hypocellularity | Bone pain | Cachexia | Carious teeth | Cortical thickening of long bone diaphyses | Coxa valga | Cranial nerve compression | Craniofacial osteosclerosis | Decreased total leukocyte count | Delayed eruption of teeth | Delayed puberty | Diaphyseal sclerosis | Diplopia | Easy fatigability | Elevated circulating aldolase concentration | Elevated erythrocyte sedimentation rate | Facial palsy | Feeding difficulties in infancy | Frontal bossing | Genu valgum | Glaucoma | Headache | Hearing impairment | Hepatomegaly | Hyperlordosis | Hyperostosis | Hypertrophic cardiomyopathy | Hypogonadism | Increased bone mineral density | Juvenile onset | Kyphosis | Limb pain | Limitation of joint mobility | Lower limb pain | Mandibular prognathia | Metaphyseal dysplasia | Muscle weakness | Optic atrophy | Optic nerve compression | Pes planus | Poor appetite | Proptosis | Reduced subcutaneous adipose tissue | Sclerosis of skull base | Scoliosis | Sensory neuropathy | Skeletal dysplasia | Skeletal muscle atrophy | Slender build | Splenomegaly | Urinary retention | Waddling gait" ], "symptoms_ja_list": [ "よたつき歩行 | アルドラーゼ値上昇 | 下肢痛 | 下顎突出 | 側弯 | 前弯 | 前頭突出", "額突出 | 四肢痛 | 外反股 | 外反膝 | 大腿骨の異常 | 尿閉 | 常染色体顕性遺伝 | 後弯 | 思春期遅発 | 性腺機能低下症 | 悪液質 (カヘキシー) | 感覚ニューロパチー | 扁平足 | 易疲労性 | 橈骨の異常 | 橈骨無形成/低形成 | 歯萠出遅延 | 異常な皮下脂肪組織分布 | 異常な顔の形 | 白血球減少症 | 皮下脂肪組織減少 | 眼球突出 | 神経学的発語障害 | 筋萎縮 | 筋虚弱 | 細い体型 | 緑内障 | 肝腫 | 肥大型心筋症 | 脊柱の異常 | 脛骨の異常 | 脳神経圧迫 | 脾腫 | 複視 | 視神経神経圧迫 | 視神経萎縮 | 貧血 | 赤沈値上昇 | 運動失調 | 長管骨骨幹の皮質肥厚 | 関節運動制限 | 難聴 | 頭痛 | 頭蓋底硬化症 | 頭蓋顔面骨硬化症 | 頭蓋骨の異常 | 顔面麻痺 | 食思不振 | 食餌摂取障害 in infancy | 骨ミネラル濃度の増加 | 骨化過剰 | 骨幹形態異常 | 骨幹硬化 | 骨幹端異形成 | 骨格異形成 | 骨痛 | 骨盤帯骨の形態異常 | 骨髄細胞数増多 | 齲歯" ] }, { "id": "NANDO:1200734", "label_en": "obsolete Acute diffuse endocapillary membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 管内増殖型急性・びまん型膜性増殖性糸球体腎炎", "yomigana": "かんないぞうしょくがたきゅうせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200734", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200730", "label_en": "obsolete Acute focal membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 急性・巣状型膜性増殖性糸球体腎炎", "yomigana": "きゅうせい・そうじょうがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200730", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100162", "label_en": "Disorder of fatty-acid metabolism", "label_ja": "脂肪酸代謝異常症", "yomigana": "しぼうさんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100162", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200548", "label_en": "Mucopolysaccharidosis type II", "label_ja": "ムコ多糖症II型", "yomigana": "むこたとうしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200548", "notificationNumber": "130", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal aortic morphology | Abnormal epiphyseal ossification | Abnormal heart morphology | Abnormal heart valve morphology | Abnormal mitral valve morphology | Abnormal pulmonary valve morphology | Abnormal retinal pigmentation | Abnormal tricuspid valve morphology | Aggressive behavior | Airway obstruction | Arrhythmia | Asthma | Atypical behavior | Cardiomyopathy | Cervical cord compression | Childhood onset | Chronic diarrhea | Coarse facial features | Cognitive impairment | Communicating hydrocephalus | Conductive hearing impairment | Congestive heart failure | Constrictive median neuropathy | Contractures of the large joints | Corneal opacity | Decreased nerve conduction velocity | Delayed eruption of teeth | Dermatan sulfate excretion in urine | Developmental regression | Diarrhea | Dolichocephaly | Dysostosis multiplex | Flexion contracture | Full cheeks | Gingival overgrowth | Global developmental delay | Growth delay | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hepatosplenomegaly | Hip dysplasia | Hip osteoarthritis | Hoarse voice | Hydrocephalus | Hyperactivity | Hypertension | Hypertrichosis | Impulsivity | Infantile onset | Inguinal hernia | Intestinal pseudo-obstruction | Irregularity of vertebral bodies | Juvenile onset | Kyphosis | Large central visual field defect | Limitation of joint mobility | Macrocephaly | Macroglossia | Mental deterioration | Mild short stature | Muscle stiffness | Neurodegeneration | Obstructive sleep apnea | Optic atrophy | Otosclerosis | Papilledema | Peripheral visual field loss | Pes cavus | Profound intellectual disability | Progressive neurologic deterioration | Prominent supraorbital ridges | Ptosis | Recurrent otitis media | Recurrent pneumonia | Recurrent upper respiratory tract infections | Retinal degeneration | Retinopathy | Seizure | Sensorineural hearing impairment | Severe short stature | Short neck | Short stature | Sleep apnea | Sleep disturbance | Sleep-wake cycle disturbance | Spinal cord compression | Splenomegaly | Split hand | Temporomandibular joint ankylosis | Thick lower lip vermilion | Thick vermilion border | Tracheobronchomalacia | Umbilical hernia | Upper airway obstruction | Urinary glycosaminoglycan excretion | Wide nasal bridge | Wide nose | Widely spaced teeth | X-linked recessive inheritance | Young adult onset" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うっ血性心不全 | 三尖弁の異常 | 上気道閉塞 | 下痢 | 不整脈 | 不規則な椎体骨 | 乳頭浮腫 | 交通性水頭症 | 伝音難聴 | 低身長 | 側頭骨下顎関節強直 | 僧帽弁の異常 | 全般性発達遅滞 | 凹足 | 分厚い下口唇唇紅部 | 分厚い唇紅部縁 | 反復性上気道感染症 | 反復性中耳炎 | 反復性肺炎 | 収縮性正中神経ニューロパチー | 喘息 | 嗄声 | 多動 | 多毛症 | 多発性異骨症 | 大きな中心視野障害 | 大きな頬 | 大動脈の異常 | 大関節拘縮 | 大頭 | 尿中グリコサミノグリカン排泄 | 尿中硫酸デルマタン排泄 | 尿中硫酸ヘパラン排泄 | 屈曲拘縮 | 巨舌 | 幅広い鼻 | 幅広い鼻梁 | 後弯 | 心弁の異常 | 心形態の異常 | 心筋症 | 感音難聴 | 慢性下痢 | 成長遅滞 | 攻撃的行動 | 末梢視野喪失 | 歯肉過成長 | 歯萠出遅延 | 歯間隔離 | 気管気管支軟化症 | 水頭症 | 発作 | 発達退行 | 目立つ眼窩上縁 | 眼瞼下垂 | 睡眠-覚醒周期障害 | 睡眠時無呼吸 | 睡眠障害 | 知的障害", "最重度 | 知能悪化 | 短い頸部 | 神経変性 | 神経活動電位の振幅減少 | 筋硬直 | 粗な顔貌 | 網膜変性 | 網膜症 | 網膜色素異常 | 耳硬化症 | 肝脾腫 | 肝腫 | 股関節異形成 | 股関節骨関節炎 | 肺動脈弁の異常 | 脊髄圧迫 | 脾腫 | 腸偽閉塞 | 臍ヘルニア | 行動異常 | 衝動性 | 裂手 | 視神経萎縮 | 角膜混濁 | 認知障害 | 軽度の低身長 | 進行性神経学的悪化 | 重度の低身長 | 長頭 | 閉塞性睡眠時無呼吸 | 閉塞性肺疾患 | 関節運動制限 | 難聴 | 頚髄圧迫 | 骨端骨化異常 | 高血圧 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200799", "label_en": "Complement factor H related protein 1 deficiency", "label_ja": "Factor H-related protein欠損症", "yomigana": "ふぁくたーえいちりれいてぃっどぷろていんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200799", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201029", "label_en": "Huge arteriovenous malformation", "label_ja": "巨大動静脈奇形", "yomigana": "きょだいどうじょうみゃくきけい", "url": "http://nanbyodata.jp/ontology/NANDO_2201029", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200069", "label_en": "Yolk sac tumour", "label_ja": "卵黄嚢腫", "yomigana": "らんおうのうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200069", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200734", "label_en": "IL-2-inducible T-cell kinase deficiency", "label_ja": "ITK欠損症", "yomigana": "あいてぃーけーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200734", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Anemia | Autoimmune hemolytic anemia | Autoimmune thrombocytopenia | Autoimmunity | Autosomal recessive inheritance | B-cell lymphoma | Childhood onset | Decreased circulating IgG concentration | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Hemophagocytosis | Hepatomegaly | Hodgkin lymphoma | Increased circulating ferritin concentration | Juvenile onset | Lymphadenopathy | Lymphoproliferative disorder | Pancytopenia | Pericardial effusion | Pleural effusion | Recurrent fever | Recurrent infections | Splenomegaly | Stomatitis | Thrombocytopenia" ], "symptoms_ja_list": [ "B-細胞リンパ腫 | CRP 上昇 | Hodgkin リンパ腫 | IgG欠乏症 | リンパ増殖性疾患 | リンパ節腫大 | 低ガンマグロブリン血症 | 反復性感染症 | 口内炎 | 常染色体潜性遺伝 | 心外膜滲出液 | 汎血球減少症 | 発熱エピソード | 白血球減少症 | 肝腫 | 胸膜滲出液 | 脾腫 | 自己免疫 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 血小板減少 | 血液貪食症 | 血清フェリチン増加 | 貧血 | 赤沈値上昇" ] }, { "id": "NANDO:1200510", "label_en": "Isaacs syndrome", "label_ja": "アイザックス症候群", "yomigana": "あいざっくすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200510", "notificationNumber": "119", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Calf muscle hypertrophy | Distal sensory impairment | EEG abnormality | EMG: myokymic discharges | Fasciculations | Hyperhidrosis | Muscle fibrillation | Muscle spasm | Muscle stiffness | Muscle weakness | Myokymia | Weight loss" ], "symptoms_ja_list": [ "体重喪失 | 多汗 | 筋けいれん | 筋波動症", "ミオキミア | 筋硬直 | 筋細動 | 筋虚弱 | 筋電図: 筋波動性放電 | 線維束性収縮 | 脳波異常 | 腓腹筋肥大 | 遠位感覚障害" ] }, { "id": "NANDO:2100283", "label_en": "Congenital ichthyosis", "label_ja": "先天性魚鱗癬", "yomigana": "せんてんせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_2100283", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200421", "label_en": "Cryptogenic organizing pneumonia", "label_ja": "特発性器質化肺炎", "yomigana": "とくはつせいきしつかはいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200421", "notificationNumber": "85", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Anorexia | Arthralgia | Chest pain | Cough | Cyanosis | Dyspnea | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Fatigue | Fever | Hemoptysis | Hypoxemia | Increased total leukocyte count | Increased total neutrophil count | Pneumothorax | Respiratory distress | Restrictive ventilatory defect | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | チアノーゼ | 低酸素血症への感受性の減少 | 体重喪失 | 共通 | 呼吸困難 | 呼吸窮迫 | 喀血 | 外層 | 好中球増多症 | 拘束性肺疾患 | 気胸 | 疲労 | 発熱 | 白血球増多症 | 赤沈値上昇 | 関節痛 | 食思不振" ] }, { "id": "NANDO:2200914", "label_en": "Intestinal lymphangiectasia", "label_ja": "腸リンパ管拡張症", "yomigana": "ちょうりんぱかんかくちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200914", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100254", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200587", "label_en": "Dravet syndrome", "label_ja": "ドラベ症候群", "yomigana": "どらべしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200587", "notificationNumber": "140", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200215", "label_en": "Ullrich disease", "label_ja": "ウルリッヒ病", "yomigana": "うるりっひびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200215", "notificationNumber": "29", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal muscle fiber morphology | Abnormal palate morphology | Adducted thumb | Ankle hypermobility | Autosomal dominant inheritance | Autosomal recessive inheritance | Decreased fetal movement | Diaphragmatic weakness | EMG: myopathic abnormalities | Elbow flexion contracture | Elevated circulating creatine kinase activity | Esotropia | Facial palsy | Failure to thrive | Feeding difficulties in infancy | Flexion contracture | Follicular hyperkeratosis | Frequent falls | Generalized amyotrophy | Generalized hypotonia | Generalized muscle weakness | High palate | Hip dislocation | Hyperhidrosis | Increased endomysial connective tissue | Increased laxity of fingers | Increased variability in muscle fiber diameter | Infantile onset | Intellectual disability | Joint hypermobility | Knee flexion contracture | Kyphosis | Long toe | Micrognathia | Mildly elevated creatine kinase | Motor delay | Muscle fiber necrosis | Muscle weakness | Muscular dystrophy | Neonatal hypotonia | Nocturnal hypoventilation | Pes valgus | Progressive | Protruding ear | Proximal muscle weakness | Recurrent lower respiratory tract infections | Respiratory failure | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Round face | Scoliosis | Short neck | Slender build | Slender finger | Spinal rigidity | Talipes equinovarus | Torticollis | Type 1 muscle fiber predominance | Variable expressivity | Wrist hypermobility" ], "symptoms_ja_list": [ "1型筋線維有意 | creatine phosphokinase の軽度上昇 | 丸い顔 | 側弯 | 全身性筋緊張低下 | 全身性筋萎縮 | 全身性筋虚弱 | 内反尖足 | 内斜視 | 内転母指 | 反復性下気道感染症 | 口蓋の異常 | 呼吸不全 | 外反足 | 多汗 | 夜間低換気 | 小顎 | 屈曲拘縮 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 後弯 | 成長障害 (成長不全) | 手関節過伸展 | 指関節弛緩性増加 | 斜頚 | 新生児筋緊張低下 | 横隔膜虚弱 | 毛包過角化症 | 知的障害 | 短い頸部 | 筋ジストロフィー | 筋内膜結合織増加 | 筋線維の異常 | 筋線維壊死 | 筋線維直径の多様性増加 | 筋虚弱 | 筋虚弱による呼吸不全 | 筋電図: ミオパチー異常 | 細い体型 | 細い指 | 耳介聳立 | 肘屈曲拘縮 | 股関節脱臼 | 胎動減少 | 脊椎強直 | 膝屈曲拘縮 | 血清 creatine phosphokinase上昇 | 足関節弛緩性増加 | 近位筋虚弱 | 運動発達遅滞 | 長い趾 | 関節過動 | 頻回の転倒 | 顔面麻痺 | 食餌摂取障害 in infancy | 高口蓋" ] }, { "id": "NANDO:1200788", "label_en": "Tyrosinemia type 1", "label_ja": "高チロシン血症1型", "yomigana": "こうちろしんけっしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200788", "notificationNumber": "241", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Acute hepatic failure | Anemia | Ascites | Autosomal recessive inheritance | Cirrhosis | Elevated circulating alpha-fetoprotein concentration | Elevated circulating hepatic transaminase concentration | Elevated urinary delta-aminolevulinic acid | Enlarged kidney | Episodic peripheral neuropathy | Episodic vomiting | Failure to thrive | Fever | Gastrointestinal hemorrhage | Generalized aminoaciduria | Glomerular sclerosis | Growth delay | Hepatic failure | Hepatocellular carcinoma | Hepatomegaly | Hypermethioninemia | Hypertrophic cardiomyopathy | Hypertyrosinemia | Hypoglycemia | Hypophosphatemic rickets | Melena | Metabolic acidosis | Nephrocalcinosis | Pancreatic islet-cell hyperplasia | Paralytic ileus | Periodic paralysis | Prolonged partial thromboplastin time | Prolonged prothrombin time | Renal Fanconi syndrome | Renal insufficiency | Rickets of the lower limbs | Splenomegaly" ], "symptoms_ja_list": [ "α-フェトプロテイン上昇 | くる病 (下肢) | プロトロンビン時間遷延 | 下血 | 代謝性アシドーシス | 低リン血症性くる病 | 低血糖 | 周期性麻痺 | 嘔吐エピソード | 尿中δ-アミノレブリン酸上昇 | 常染色体潜性遺伝 | 急性肝不全 | 成長遅滞 | 成長障害 (成長不全) | 末梢神経障害エピソード | 汎アミノ酸尿 | 発熱 | 糸球体硬化症 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝硬変 | 肝細胞癌 | 肝腫 | 肥大型心筋症 | 胃腸出血 | 脾腫 | 腎不全 | 腎性 Fanconi 症候群 | 腎拡大 | 腎石灰化症 | 腹水 | 膵頭部細胞過形成 | 貧血 | 部分的トロンボプラスチン時間遷延 | 高チロシン血症 | 高メチオニン血症mia | 麻痺性イレウス" ] }, { "id": "NANDO:1200741", "label_en": "Henoch-Schonlein purpura nephritis", "label_ja": "紫斑病性腎炎", "yomigana": "しはんびょうせいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200741", "notificationNumber": "224", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201186", "label_en": "Fucosidosis, infantile form", "label_ja": "乳児型フコシドーシス", "yomigana": "にゅうじがたふこしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201186", "notificationNumber": "125", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100264", "label_en": "obsolete Autoimmune hepatitis", "label_ja": "obsolete 自己免疫性肝炎", "yomigana": "じこめんえきせいかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100264", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200314", "label_en": "Mixed type paroxysmal nocturnal hemoglobinuria", "label_ja": "混合型発作性夜間ヘモグロビン尿症", "yomigana": "こんごうがたほっさせいやかんへもぐろびんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200314", "notificationNumber": "62", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200226", "label_en": "Atrial fibrillation", "label_ja": "心房細動", "yomigana": "しんぼうさいどう", "url": "http://nanbyodata.jp/ontology/NANDO_2200226", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100051", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200826", "label_en": "Glycogen storage diseases type III", "label_ja": "筋型糖原病III型", "yomigana": "きんがたとうげんびょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200826", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Autosomal recessive inheritance | Broad nasal tip | Cardiomyopathy | Deeply set eye | Depressed nasal bridge | Distal amyotrophy | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Full cheeks | Hepatic fibrosis | Hepatomegaly | Hyperlipidemia | Hypertriglyceridemia | Hypoglycemia | Immunodeficiency | Malar flattening | Midface retrusion | Mild intellectual disability | Muscle weakness | Myopathy | Short stature | Thin upper lip vermilion | Thin vermilion border | Ventricular hypertrophy" ], "symptoms_ja_list": [ "ミオパチー | 低血糖 | 低身長 | 免疫不全 | 大きな頬 | 常染色体潜性遺伝 | 幅広い鼻尖 | 平坦な頬 | 心室肥大 | 心筋症 | 知的障害", "軽度 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝線維症 | 肝腫 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 薄い唇紅部縁 | 血清 creatine phosphokinase上昇 | 遠位筋萎縮 | 顔面中部後退 | 高トリグリセリド血症 | 高脂血症" ] }, { "id": "NANDO:1201018", "label_en": "Hepatic glycogen storage disease type I", "label_ja": "肝型糖原病I型", "yomigana": "かんがたとうげんびょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201018", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Cognitive impairment | Full cheeks | Hyperlipidemia | Hyperuricemia | Hypoglycemia | Hypotonia | Recurrent infections | Recurrent respiratory infections | Seizure | Short stature | Xanthomatosis" ], "symptoms_ja_list": [ "低血糖 | 低身長 | 反復性呼吸器感染症 | 反復性感染症 | 大きな頬 | 発作 | 筋緊張低下 | 認知障害 | 高尿酸血症 | 高脂血症 | 黄色腫症" ] }, { "id": "NANDO:1200003", "label_en": "Spinal muscular atrophy", "label_ja": "脊髄性筋萎縮症", "yomigana": "せきずいせいきんいしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200003", "notificationNumber": "3", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200746", "label_en": "Cyclic neutropenia", "label_ja": "周期性好中球減少症", "yomigana": "しゅうきせいこうちゅうきゅうげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200746", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Abdominal pain | Atrophy of alveolar ridges | Autosomal dominant inheritance | Bone pain | Cellulitis | Decreased total lymphocyte count | Enterocolitis | Fatigue | Fever | Gingivitis | Headache | Lymphadenopathy | Oral ulcer | Otitis media | Perianal abscess | Periodontitis | Peritonitis | Premature loss of permanent teeth | Recurrent fever | Recurrent skin infections | Recurrent tonsillitis | Respiratory tract infection | Sepsis | Sinusitis | Thrombocytopenia" ], "symptoms_ja_list": [ "リンパ球減少症 | リンパ節腫大 | 中耳炎 | 副鼻腔炎 | 反復性皮膚感染症 | 口腔潰瘍 | 呼吸器感染 | 小腸結腸炎 | 常染色体顕性遺伝 | 扁桃炎 | 敗血症 | 早発性永久歯喪失 | 歯周炎 | 歯槽隆起萎縮 | 歯肉炎 | 疲労 | 発熱 | 発熱エピソード | 肛門周囲膿瘍 | 腹痛 | 腹膜炎 | 蜂巣織炎 | 血小板減少 | 頭痛 | 骨痛" ] }, { "id": "NANDO:2200487", "label_en": "Hartnup disease", "label_ja": "ハートナップ病", "yomigana": "はーとなっぷびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200487", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal urinary color | Abnormality of vision | Anxiety | Ataxia | Attention deficit hyperactivity disorder | Autosomal recessive inheritance | Childhood onset | Cutaneous photosensitivity | Delayed speech and language development | EEG abnormality | Emotional lability | Episodic ataxia | Generalized tonic seizure | Gingivitis | Global developmental delay | Glossitis | Hallucinations | Hyperactivity | Hyperreflexia | Hypertonia | Hypopigmented skin patches | Hypotonia | Infectious encephalitis | Intellectual disability | Irregular hyperpigmentation | Malabsorption | Migraine | Neutral hyperaminoaciduria | Nystagmus | Photophobia | Psychosis | Seizure | Short stature | Skin rash | Strabismus | Tremor" ], "symptoms_ja_list": [ "不安 | 不規則な高色素 | 中性高アミノ酸尿 | 低色素性皮膚斑 | 低身長 | 偏頭痛 | 全般性発達遅滞 | 全身性間代性発作 | 反射亢進 | 吸収障害 | 多動 | 尿色異常 | 常染色体潜性遺伝 | 幻覚 | 情動不安定 | 振戦 | 斜視 | 歯肉炎 | 注意力欠陥多動性疾患 | 異常な皮膚水泡 | 発作 | 発語および言語発達遅延 | 皮膚光線過敏症 | 皮膚発疹 | 眼振 | 知的障害 | 筋緊張亢進 | 筋緊張低下 | 精神病 | 羞明 | 脳波異常 | 脳炎 | 舌炎 | 視覚の異常 | 運動失調 | 運動失調エピソード" ] }, { "id": "NANDO:2200695", "label_en": "Reticular dysgenesis", "label_ja": "細網異形成症", "yomigana": "さいもういけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200695", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100203", "symptoms_en_list": [ "Abnormal T cell physiology | Abnormality of mitochondrial metabolism | Abnormality of neutrophils | Anemia | Aplasia/Hypoplasia of the thymus | Autosomal recessive inheritance | Cellular immunodeficiency | Chronic otitis media | Combined immunodeficiency | Congenital agranulocytosis | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total lymphocyte count | Dehydration | Diarrhea | Failure to thrive | Fever | Hearing impairment | Hypoplasia of the thymus | Malabsorption | Recurrent respiratory infections | Sepsis | Severe combined immunodeficiency | Skin rash | Skin ulcer | Weight loss | obsolete Absent cellular immunity" ], "symptoms_ja_list": [ "T 細胞生理の異常 | ミトコンドリア代謝の異常 | リンパ球減少症 | 下痢 | 低ガンマグロブリン血症 | 体重喪失 | 先天性無顆粒球症 | 反復性呼吸器感染症 | 吸収障害 | 好中球の異常 | 常染色体潜性遺伝 | 慢性中耳炎 | 成長障害 (成長不全) | 敗血症 | 発熱 | 白血球減少症 | 皮膚潰瘍 | 皮膚発疹 | 細胞免疫の欠損 | 細胞免疫不全 | 胸腺低形成 | 胸腺無形成/低形成 | 脱水 | 複合型免疫不全 | 貧血 | 重症複合型免疫不全 | 難聴" ] }, { "id": "NANDO:2200559", "label_en": "GM2 gangliosidosis", "label_ja": "GM2ガングリオシドーシス", "yomigana": "じーえむ2がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200559", "notificationNumber": "119", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201504", "label_en": "Focal cortical dysplasia type 3a", "label_ja": "限局性皮質異形成タイプ3a", "yomigana": "げんきょくせいひしついけいせいたいぷ3えー", "url": "http://nanbyodata.jp/ontology/NANDO_2201504", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200381", "label_en": "Kallmann syndrome", "label_ja": "カルマン症候群", "yomigana": "かるまんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200381", "notificationNumber": "71", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100138", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal morphology of female internal genitalia | Abnormality of the voice | Anosmia | Anterior hypopituitarism | Ataxia | Bimanual synkinesia | Breast hypoplasia | Cleft palate | Color vision defect | Cryptorchidism | Decreased fertility | Decreased testicular size | Delayed puberty | Delayed skeletal maturation | Dysarthria | Erectile dysfunction | Gait disturbance | Gonadotropin-releasing hormone deficiency | Gynecomastia | Hypogonadotropic hypogonadism | Hypoplasia of penis | Hyposmia | Hypotonia | Ichthyosis | Micropenis | Muscle weakness | Nystagmus | Obesity | Paraplegia | Pes cavus | Pes planus | Primary amenorrhea | Ptosis | Recurrent fractures | Reduced bone mineral density | Renal agenesis | Seizure | Sensorineural hearing impairment | Skeletal dysplasia | Tooth agenesis | Tremor | Visual impairment" ], "symptoms_ja_list": [ "下垂体前葉機能低下症 | 不全麻痺 | 両手協同運動 | 乳房低形成 | 低ゴナドトロピン性性腺機能低下症 | 停留精巣 | 凹足 | 勃起異常 | 原発性無月経 | 反復性骨折 | 口蓋裂 | 嗅覚減退 | 声の異常 | 女性内性器異常 | 女性型乳房 | 妊孕性減少 | 小陰茎 | 循環器系の形態異常 | 思春期遅発 | 感音難聴 | 扁平足 | 振戦 | 構音障害 | 歩行障害 | 歯数の減少 number of teeth | 無嗅覚 | 発作 | 眼振 | 眼瞼下垂 | 筋緊張低下 | 筋虚弱 | 精巣サイズ減少 | 肥満 | 腎無発生 | 色覚異常 | 視力障害 | 視床下部ゴナドトロピン遊離ホルモン (GNRH)欠乏症 | 運動失調 | 陰茎低形成 | 骨ミネラル濃度減少 | 骨格異形成 | 骨格骨化遅延 | 魚鱗癬" ] }, { "id": "NANDO:1200084", "label_en": "Neonatal multiple sulfatase deficiency", "label_ja": "新生児型マルチプルスルファターゼ欠損症", "yomigana": "しんせいじがたまるちぷるするふぁたーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200084", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal periventricular white matter morphology | Abnormal retinal pigmentation | Abnormality of peripheral nerve conduction | Anteverted nares | Ataxia | Autosomal recessive inheritance | Broad hallux | Broad hallux phalanx | Broad thumb | CNS demyelination | Cataract | Cerebellar atrophy | Cerebral atrophy | Coarse facial features | Coarse hair | Corneal opacity | Depressed nasal bridge | Developmental regression | Dysostosis multiplex | Flat face | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrocephalus | Hypoplastic vertebral bodies | Ichthyosis | Increased CSF protein concentration | Intellectual disability | Joint stiffness | Large forehead | Lower limb hyperreflexia | Macrocephaly | Microcephaly | Mucopolysacchariduria | Neonatal hypotonia | Optic atrophy | Periorbital edema | Peripheral demyelination | Prominent forehead | Rapid neurologic deterioration | Retinal degeneration | Seizure | Sensorineural hearing impairment | Short stature | Smooth philtrum | Spasticity | Splenomegaly | Thick eyebrow | Ventriculomegaly | Visual impairment" ], "symptoms_ja_list": [ "ムコ多糖症 | 上向きの鼻孔 | 下肢反射亢進 | 中枢神経脱髄 | 低身長 | 全般性発達遅滞 | 分厚い眉毛 | 多発性異骨症 | 大きな額 | 大脳萎縮 | 大頭 | 小脳萎縮 | 小頭 | 常染色体潜性遺伝 | 幅広い母指 | 幅広い母趾 | 幅広い母趾趾骨 | 平坦な人中 | 平坦な顔 | 急速神経学的悪化 | 感音難聴 | 新生児筋緊張低下 | 末梢神経伝導の異常 | 末梢神経脱髄 | 椎体骨低形成 | 水頭症 | 痙性 | 発作 | 発達退行 | 白内障 | 目立つ額 | 眼窩周囲浮腫 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 網膜変性 | 網膜色素異常 | 肝腫 | 脳室周囲白質の異常 | 脳室拡大 | 脾腫 | 落ちくぼんだ鼻梁 | 視力障害 | 視神経萎縮 | 角膜混濁 | 運動失調 | 関節拘縮 | 難聴 | 髄液タンパクの増加 | 魚鱗癬" ] }, { "id": "NANDO:2201460", "label_en": "Type II factor XIII deficiency", "label_ja": "第XIII因子欠乏症II型", "yomigana": "だいじゅうさんいんしけつぼうしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201460", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Abnormal bleeding | Abnormal umbilical stump bleeding | Autosomal recessive inheritance | Bruising susceptibility | Congenital onset | Epistaxis | Gingival bleeding | Intracranial hemorrhage | Joint hemorrhage | Neonatal onset | Persistent bleeding after trauma | Reduced factor XIII activity | Spontaneous hematomas" ], "symptoms_ja_list": [ "出血傾向 | 外傷後の持続性出血 | 常染色体潜性遺伝 | 歯肉出血 | 異常な出血 | 異常な臍帯断端出血 | 第 XIII 因子活性の減少 | 自然血管腫 | 関節出血 | 頭蓋内出血 | 鼻出血" ] }, { "id": "NANDO:2200666", "label_en": "Paris-trousseau/Jacobsen syndrome", "label_ja": "Paris-Trousseau/Jacobsen症候群", "yomigana": "ぱりとるそー/やこぶせんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200666", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200170", "label_en": "Atypical X-linked adult adrenoleukodystrophy", "label_ja": "小脳・脳幹型副腎白質ジストロフィー", "yomigana": "しょうのう・のうかんがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200170", "notificationNumber": "20", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200720", "label_en": "Selective IgA deficiency", "label_ja": "選択的IgA欠損症", "yomigana": "せんたくてきあいじーえーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200720", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100205", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200874", "label_en": "Congenital neuromuscular disease with uniform type 1 fiber", "label_ja": "先天性全タイプ1線維ミオパチー", "yomigana": "せんてんせいぜんたいぷ1せんいみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_2200874", "notificationNumber": "56", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100234", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200349", "label_en": "Pseudohypoparathyroidism", "label_ja": "偽性副甲状腺機能低下症", "yomigana": "ぎせいふくこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200349", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100126", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200111", "label_en": "Diffuse mesangial sclerosis", "label_ja": "びまん性メサンギウム硬化症", "yomigana": "びまんせいめさんぎうむこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200111", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200707", "label_en": "Pulmonary atresia with intact ventricular septum", "label_ja": "心室中隔欠損を伴わない肺動脈閉鎖症", "yomigana": "しんしつちゅうかくけっそんをともなわないはいどうみゃくへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200707", "notificationNumber": "213", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal tricuspid valve morphology | Autosomal recessive inheritance | Hypoplastic right ventricle | Maternal diabetes | Patent ductus arteriosus | Premature birth | Pulmonary artery atresia" ], "symptoms_ja_list": [ "三尖弁の異常 | 動脈管開存症 | 右心低形成 | 常染色体潜性遺伝 | 早産 | 母体糖尿病 | 肺動脈閉鎖" ] }, { "id": "NANDO:1200676", "label_en": "Werner syndrome", "label_ja": "ウェルナー症候群", "yomigana": "うぇるなーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200676", "notificationNumber": "191", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Abnormal hair whorl | Abnormal retinal pigmentation | Abnormal testis morphology | Abnormal thorax morphology | Abnormality of the voice | Abnormally high-pitched voice | Acral lentiginous melanoma | Alopecia of scalp | Aplasia/Hypoplasia of the skin | Aplasia/Hypoplasia of the testes | Atherosclerosis | Autosomal recessive inheritance | Bird-like facies | Breast carcinoma | Cataract | Chondrocalcinosis | Congestive heart failure | Convex nasal ridge | Cutaneous melanoma | Decreased fertility | Dermal atrophy | Diabetes mellitus | Gastrointestinal carcinoma | Hyperglycemia | Hyperkeratosis | Hypertension | Hypertriglyceridemia | Hypogonadism | Increased bone mineral density | Insulin resistance | Joint stiffness | Juvenile onset | Lack of skin elasticity | Laryngomalacia | Lipoatrophy | Lipodystrophy | Low back pain | Melanoma | Meningioma | Miscarriage | Myelodysplasia | Myocardial infarction | Nail dystrophy | Narrow face | Neoplasm | Neoplasm of the lung | Neoplasm of the oral cavity | Neoplasm of the small intestine | Osteoporosis | Osteosarcoma | Ovarian neoplasm | Pili torti | Plantar hyperkeratosis | Premature arteriosclerosis | Premature graying of hair | Prematurely aged appearance | Progeroid facial appearance | Pulmonary artery stenosis | Reduced bone mineral density | Renal neoplasm | Retinal degeneration | Rocker bottom foot | Sarcoma | Scleroderma | Secondary amenorrhea | Short stature | Skeletal muscle atrophy | Skin ulcer | Slender build | Small hand | Sparse scalp hair | Squamous cell carcinoma | Subcutaneous calcification | Telangiectasia of the skin | Thyroid carcinoma | Type II diabetes mellitus | White forelock | Young adult onset" ], "symptoms_ja_list": [ "II 型糖尿病 | うっ血性心不全 | インスリン抵抗性 | プロゲリア様顔貌 | リポジストロフィー | 下背部痛 | 乳房癌 | 二次性無月経 | 低身長 | 凸の鼻梁 | 前頭部白髪 | 動脈硬化症 | 卵巣新生物 | 口腔新生物 | 喉頭軟化症 | 基底細胞癌 | 声の異常 | 大脳血管の異常 | 妊孕性減少 | 小さい手 | 小腸新生物 | 常染色体潜性遺伝 | 強皮症 | 心筋梗塞 | 性腺機能低下症 | 捻転毛 | 揺り椅子状足底 | 新生物 | 早発性動脈硬化症 | 早発性毛髪白髪 | 早老外観 | 爪ジストロフィー | 狭い顔 | 甲状腺癌 | 異常なつむじ | 疎な頭髪 | 白内障 | 皮下石灰化 | 皮膚弾性欠如 | 皮膚毛細血管拡張 | 皮膚潰瘍 | 皮膚無形成/低形成 | 皮膚萎縮 | 皮膚黒色腫 | 筋萎縮 | 精巣無形成/低形成 | 精巣異常 | 糖尿病 | 細い体型 | 網膜変性 | 網膜色素異常 | 肉腫 | 肢端黒子性黒色腫 | 肺動脈狭窄 | 肺新生物 | 胃腸癌 | 胸郭の異常 | 脂肪萎縮 | 腎新生物 | 自然流産 | 足底過角化症 | 軟骨石灰化症 | 過角化症 | 関節拘縮 | 頭髪禿頭 | 骨ミネラル濃度の増加 | 骨ミネラル濃度減少 | 骨粗鬆症 | 骨肉腫 | 骨髄異形成 | 髄膜腫 | 高トリグリセリド血症 | 高血圧 | 高血糖 | 高音の声 | 鳥貌 | 黒色腫" ] }, { "id": "NANDO:2200131", "label_en": "Atypical hemolytic uremic syndrome", "label_ja": "非典型溶血性尿毒症症候群", "yomigana": "ひてんけいようけつせいにょうどくしょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200131", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [ "Abnormality of blood and blood-forming tissues | Abnormality of complement system | Abnormality of metabolism/homeostasis | Acute kidney injury | Decreased circulating complement factor B concentration | Decreased circulating complement factor I concentration | Hematuria | Microangiopathic hemolytic anemia | Proteinuria | Reduced circulating complement concentration | Thrombocytopenia" ], "symptoms_ja_list": [ "代謝/ホメオスターシスの異常 | 微小血管症性溶血性貧血 | 急性腎外傷 | 蛋白尿 | 血小板減少 | 血尿 | 血液および血液痙性組織の異常 | 血清補体 factor B減少 | 血清補体 factor I 減少 | 補体欠乏症 | 補体系の異常" ] }, { "id": "NANDO:1200142", "label_en": "Acid lipase deficiency", "label_ja": "酸性リパーゼ欠損症", "yomigana": "さんせいりぱーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200142", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal distention | Acute hepatic failure | Adrenal calcification | Adrenal insufficiency | Anemia | Ascites | Autosomal recessive inheritance | Bone-marrow foam cells | Cachexia | Death in infancy | Esophageal varix | Failure to thrive | Fever | Global developmental delay | Growth delay | Hepatic failure | Hepatomegaly | Infantile onset | Malnutrition | Nausea and vomiting | Splenomegaly | Steatorrhea | Vomiting" ], "symptoms_ja_list": [ "全般性発達遅滞 | 副腎不全 | 副腎石灰化 | 吐気と 嘔吐 | 嘔吐 | 常染色体潜性遺伝 | 急性肝不全 | 悪液質 (カヘキシー) | 成長遅滞 | 成長障害 (成長不全) | 栄養失調 | 発熱 | 肝不全 | 肝腫 | 脂肪便 | 脾腫 | 腹水 | 腹部膨満 | 貧血 | 食道静脈瘤 | 骨髄泡沫細胞" ] }, { "id": "NANDO:2200209", "label_en": "Bronchiolitis obliterans", "label_ja": "閉塞性細気管支炎", "yomigana": "へいそくせいさいきかんしえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200209", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100039", "symptoms_en_list": [ "Airway obstruction | Autoimmunity | Bronchiectasis | Bronchiolitis obliterans | Cough | Dyspnea | Hypoxemia | Pneumonia | Respiratory tract infection" ], "symptoms_ja_list": [ "低酸素血症への感受性の減少 | 呼吸器感染 | 呼吸困難 | 外層 | 気管支拡張 | 肺炎 | 自己免疫 | 閉塞性細気管支炎 | 閉塞性肺疾患" ] }, { "id": "NANDO:2201235", "label_en": "Intermediate cystinosis", "label_ja": "中間型シスチン症", "yomigana": "ちゅうかんがたしすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201235", "notificationNumber": "120", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal cornea morphology | Abnormal long bone morphology | Abnormal urine potassium concentration | Aminoaciduria | Autosomal recessive inheritance | Chronic kidney disease | Corneal crystals | Decreased circulating vitamin D concentration | Dehydration | Delayed skeletal maturation | Elevated alkaline phosphatase of bone origin | Elevated circulating creatinine concentration | Elevated intracellular cystine | Failure to thrive | Feeding difficulties | Glycosuria | Growth abnormality | Growth delay | Hypocalcemia | Hypocalcemic tetany | Hypokalemia | Hyponatremia | Hypophosphatemia | Hypothyroidism | Hypouricemia | Hypovolemia | Juvenile onset | Low-molecular-weight proteinuria | Metabolic acidosis | Microscopic hematuria | Ocular pain | Photophobia | Polydipsia | Poor appetite | Proteinuria | Proximal tubulopathy | Renal Fanconi syndrome | Renal insufficiency | Renal phosphate wasting | Retinal pigment epithelial mottling | Retinopathy | Rickets | Seizure | Stage 5 chronic kidney disease | Vomiting" ], "symptoms_ja_list": [ "くる病 | アミノ酸尿 | ステージ5慢性腎疾患 | ビタミンD欠乏症 | 代謝性アシドーシス | 低カリウム血症 | 低カルシウム血症 | 低カルシウム血症性テタニー | 低ナトリウム血症 | 低リン血症 | 低分子量蛋白尿 | 低尿酸血症 | 嘔吐 | 塩胡椒網膜症 | 多飲 | 尿中カリウム濃度異常 | 尿糖 | 常染色体潜性遺伝 | 循環血液量減少 | 慢性腎疾患 | 成長異常 | 成長遅滞 | 成長障害 (成長不全) | 甲状腺機能低下症 | 発作 | 眼痛 | 細胞内シスチン上昇 | 網膜症 | 羞明 | 脱水 | 腎不全 | 腎性 Fanconi 症候群 | 腎性リン喪失 | 蛋白尿 | 血清クレアチン症状 | 角膜の異常 | 角膜結晶 | 近位腎尿細管症 | 長管骨形態の異常 | 顕微血尿 | 食思不振 | 食餌摂取障害 | 骨格骨化遅延 | 骨由来アルカリホスファターゼ上昇" ] }, { "id": "NANDO:2201398", "label_en": "Ohtahara syndrome", "label_ja": "大田原症候群", "yomigana": "おおたはらしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201398", "notificationNumber": "67", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201228", "label_en": "Late-infantile multiple sulfatase deficiency", "label_ja": "乳幼児型マルチプルスルファターゼ欠損症", "yomigana": "にゅうようじがたまるちぷるするふぁたーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201228", "notificationNumber": "127", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal periventricular white matter morphology | Abnormal retinal pigmentation | Abnormality of peripheral nerve conduction | Anteverted nares | Ataxia | Autosomal recessive inheritance | Broad hallux | Broad hallux phalanx | Broad thumb | CNS demyelination | Cataract | Cerebellar atrophy | Cerebral atrophy | Coarse facial features | Coarse hair | Corneal opacity | Depressed nasal bridge | Developmental regression | Dysostosis multiplex | Flat face | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrocephalus | Hypoplastic vertebral bodies | Ichthyosis | Increased CSF protein concentration | Intellectual disability | Joint stiffness | Large forehead | Lower limb hyperreflexia | Macrocephaly | Microcephaly | Mucopolysacchariduria | Neonatal hypotonia | Optic atrophy | Periorbital edema | Peripheral demyelination | Prominent forehead | Rapid neurologic deterioration | Retinal degeneration | Seizure | Sensorineural hearing impairment | Short stature | Smooth philtrum | Spasticity | Splenomegaly | Thick eyebrow | Ventriculomegaly | Visual impairment" ], "symptoms_ja_list": [ "ムコ多糖症 | 上向きの鼻孔 | 下肢反射亢進 | 中枢神経脱髄 | 低身長 | 全般性発達遅滞 | 分厚い眉毛 | 多発性異骨症 | 大きな額 | 大脳萎縮 | 大頭 | 小脳萎縮 | 小頭 | 常染色体潜性遺伝 | 幅広い母指 | 幅広い母趾 | 幅広い母趾趾骨 | 平坦な人中 | 平坦な顔 | 急速神経学的悪化 | 感音難聴 | 新生児筋緊張低下 | 末梢神経伝導の異常 | 末梢神経脱髄 | 椎体骨低形成 | 水頭症 | 痙性 | 発作 | 発達退行 | 白内障 | 目立つ額 | 眼窩周囲浮腫 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 網膜変性 | 網膜色素異常 | 肝腫 | 脳室周囲白質の異常 | 脳室拡大 | 脾腫 | 落ちくぼんだ鼻梁 | 視力障害 | 視神経萎縮 | 角膜混濁 | 運動失調 | 関節拘縮 | 難聴 | 髄液タンパクの増加 | 魚鱗癬" ] }, { "id": "NANDO:2201199", "label_en": "Tay-Sachs disease", "label_ja": "テイ・サックス病", "yomigana": "てい・さっくすびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201199", "notificationNumber": "119", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal thalamic MRI signal intensity | Abnormality of eye movement | Abnormality of glycolipid metabolism | Absent speech | Ankle clonus | Anxiety | Apathy | Aspiration | Aspiration pneumonia | Atypical behavior | Autosomal recessive inheritance | Blindness | Cerebellar atrophy | Cherry red spot of the macula | Clumsiness | Dementia | Depression | Developmental regression | Difficulty climbing stairs | Distal muscle weakness | Distal upper limb muscle weakness | Drooling | Dysarthria | Dysmetria | Dysphagia | Dystonia | Elevated circulating beta-hexosaminidase activity | Exaggerated startle response | Fasciculations | Focal impaired awareness seizure | Frequent falls | Functional motor deficit | GM2-ganglioside accumulation | Gait disturbance | Gastrostomy tube feeding in infancy | Generalized hypotonia | Gliosis | Global brain atrophy | Hearing impairment | Hepatosplenomegaly | Hip flexor weakness | Hyperreflexia | Hypertonia | Hypointensity of cerebral white matter on MRI | Hypotonia | Inability to walk | Incoordination | Infantile onset | Laryngeal dystonia | Limited elbow extension | Limited knee extension | Lower limb muscle weakness | Mania | Memory impairment | Muscle spasm | Muscle weakness | Myoclonus | Optic atrophy | Pallor | Poor fine motor coordination | Poor head control | Postural instability | Precocious puberty | Progressive macrocephaly | Progressive spasticity | Psychomotor deterioration | Psychosis | Quadriceps muscle atrophy | Seizure | Short attention span | Skeletal muscle atrophy | Speech articulation difficulties | Tremor | Typical absence seizure | Ventriculomegaly | Visual impairment" ], "symptoms_ja_list": [ "Dementia | GM2-ganglioside 蓄積 | MRIの大脳白質低輝度 | うつ | ジストニア | マニア | ミオクローヌス | 下肢筋虚弱 | 不器用 | 不安 | 乳児期の胃瘻管栄養 | 全般性脳萎縮 | 全身性筋緊張低下 | 典型的欠伸発作 | 協調運動障害 | 反射亢進 | 喉頭ジストニア | 嚥下障害 | 大腿四頭筋萎縮 | 姿勢不安定 | 小脳萎縮 | 常染色体潜性遺伝 | 微細運動協調不全 | 思春期早発 | 意識または覚醒障害を伴う焦点性発作 | 振戦 | 構音障害 | 機能的筋異常 | 歩行不能 | 歩行障害 | 流涎 | 測定障害 | 無関心", "感情鈍磨 | 異常な視床MRI シグナル強度 | 発作 | 発語欠損 | 発語調音困難 | 発達退行 | 盲 | 眼運動の異常 | 短い注意期間 | 神経膠症 | 筋けいれん | 筋緊張亢進 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 精神病 | 精神運動発達悪化 | 糖脂質代謝の異常 | 線維束性収縮 | 肘伸展制限 | 肝脾腫 | 股関節屈曲筋虚弱 | 脳室拡大 | 膝伸展制限 | 蒼白 | 血清 beta-hexosaminidase の増加 | 行動異常 | 視力障害 | 視神経萎縮 | 記憶障害 | 誇張された驚愕反応 | 誤嚥 | 誤嚥性肺炎 | 足クローヌス | 進行性大頭 | 進行性痙性 | 遠位上肢筋虚弱 | 遠位筋虚弱 | 階段の登り困難 | 難聴 | 頸定不全 | 頻回の転倒 | 高度/補酵素活性異常 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2201389", "label_en": "ADTKD-REN", "label_ja": "ADTKD-REN", "yomigana": "えーでぃーてぃーけーでぃーあーるいーえぬ", "url": "http://nanbyodata.jp/ontology/NANDO_2201389", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100298", "symptoms_en_list": [ "Anemia | Autosomal dominant inheritance | Chronic kidney disease | Focal segmental glomerulosclerosis | Hyperechogenic kidneys | Hyperuricemia | Proteinuria | Renal hypoplasia | Renal tubular atrophy | Tubulointerstitial fibrosis" ], "symptoms_ja_list": [ "尿細管萎縮 | 尿細管間質 線維症 | 巣状分節性糸球体硬化症 | 常染色体顕性遺伝 | 慢性腎疾患 | 腎低形成 | 蛋白尿 | 貧血 | 高尿酸血症 | 高輝度(エコー)腎" ] }, { "id": "NANDO:1200747", "label_en": "Autoimmune pulmonary alveolar proteinosis", "label_ja": "自己免疫性肺胞蛋白症", "yomigana": "じこめんえきせいはいほうたんぱくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200747", "notificationNumber": "229", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal circulating protein concentration | Abnormality of the upper respiratory tract | Chest pain | Clubbing | Cough | Cyanosis | Dyspnea | Fatigue | Fever | Foam cells | Hemoptysis | Hypoxemia | Insidious onset | Intraalveolar phospholipid accumulation | Pneumonia | Recurrent respiratory infections | Restrictive ventilatory defect | Sporadic | Weight loss" ], "symptoms_ja_list": [ "ばち状化 | チアノーゼ | 上気道の異常 | 低酸素血症への感受性の減少 | 体重喪失 | 共通 | 反復性呼吸器感染症 | 呼吸困難 | 喀血 | 外層 | 孤発性 | 循環性タンパク値の異常 | 拘束性肺疾患 | 泡沫細胞 | 疲労 | 発熱 | 肺炎 | 肺胞タンパク沈着症" ] }, { "id": "NANDO:2200234", "label_en": "Aneurysm of ventricle", "label_ja": "心室瘤", "yomigana": "しんしつりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2200234", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100059", "symptoms_en_list": [ "Abdominal wall defect | Abnormal EKG | Abnormal aortic morphology | Abnormal coronary artery origin | Abnormal heart morphology | Abnormality of the diaphragm | Angina pectoris | Aortic valve stenosis | Aplasia/Hypoplasia of the sternum | Arrhythmia | Atrial septal defect | Bicuspid aortic valve | Bicuspid pulmonary valve | Chest pain | Coarctation of aorta | Congenital defect of the pericardium | Congestive heart failure | Dextrocardia | Diastasis recti | Endocarditis | Left ventricular hypertrophy | Mitral stenosis | Mitral valve prolapse | Omphalocele | Palpitations | Partial anomalous pulmonary venous return | Patent ductus arteriosus | Patent foramen ovale | Persistent left superior vena cava | Premature ventricular contraction | Pulmonary artery hypoplasia | Pulmonary artery stenosis | Syncope | Tetralogy of Fallot | Thromboembolism | Transposition of the great arteries | Tricuspid atresia | Tricuspid stenosis | Umbilical hernia | Ventricular fibrillation | Ventricular septal defect | Ventricular tachycardia" ], "symptoms_ja_list": [ "Fallot 四徴症 | うっ血性心不全 | 三尖弁狭窄 | 三尖弁閉鎖 | 不整脈 | 二弁性大動脈弁 | 二弁性肺動脈弁 | 僧帽弁狭窄 | 僧帽弁逸脱 | 先天性心外膜欠損 | 共通 | 冠状動脈起始異常 | 動悸 | 動脈管開存症 | 卵円孔開存 | 右胸心 | 大動脈の異常 | 大動脈弁狭窄 | 大動脈縮窄 | 大血管転位 | 失心 | 左室肥大 | 心内膜炎 | 心室中隔欠損 | 心室性 頻拍 | 心室性期外収縮 | 心室細動 | 心形態の異常 | 心房中隔欠損 | 心電図異常 | 持続性左上大静脈 | 横隔膜の異常 | 狭心症 | 肺動脈低形成 | 肺動脈狭窄 | 胸骨無形成/低形成 | 腹壁欠損 | 腹直筋離開 | 臍ヘルニア | 臍帯ヘルニア | 血栓塞栓症 | 部分的肺静脈還流異常" ] }, { "id": "NANDO:1200465", "label_en": "Cryopyrin-associated periodic syndrome", "label_ja": "クリオピリン関連周期熱症候群", "yomigana": "くりおぴりんかんれんしゅうきねつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200465", "notificationNumber": "106", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200925", "label_en": "Chronic nonspecific multiple ulcers of the small intestine", "label_ja": "非特異性多発性小腸潰瘍症", "yomigana": "ひとくいせいたはつせいしょうちょうかいようしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200925", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100261", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201159", "label_en": "Loeys–Dietz syndrome", "label_ja": "ロイス・ディーツ症候群", "yomigana": "ろいす･でぃーつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201159", "notificationNumber": "167", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal bleeding | Aortic aneurysm | Aortic dissection | Arachnodactyly | Arterial dissection | Arterial tortuosity | Asthma | Atypical scarring of skin | Bifid uvula | Blue sclerae | Bruising susceptibility | Camptodactyly of finger | Cardiac arrest | Cleft palate | Craniosynostosis | Eczematoid dermatitis | Hypertelorism | Joint dislocation | Joint hypermobility | Malar flattening | Micrognathia | Mitral regurgitation | Myopia | Orofacial cleft | Patent ductus arteriosus | Pectus carinatum | Pectus excavatum | Pes planus | Scoliosis | Spontaneous pneumothorax | Striae distensae | Talipes equinovarus | Tall stature | Thin skin | Uterine rupture | Vascular dilatation" ], "symptoms_ja_list": [ "くも指 | はと胸 | 両眼隔離 | 二分した口蓋垂 | 伸展線 | 側弯 | 僧帽弁逆流 | 内反尖足 | 出血傾向 | 動脈瘤 | 動脈管開存症 | 動脈蛇行y | 動脈解離 | 口腔裂 | 口蓋裂 | 喘息 | 大動脈瘤 | 大動脈解離 | 子宮破裂 | 小顎 | 屈指 | 平坦な頬 | 心停止 | 扁平足 | 湿疹 | 漏斗胸 | 異常な出血 | 自然気胸 | 薄い皮膚 | 近視 | 関節脱臼 | 関節過動 | 青色胸膜 sclerae | 非典型的皮膚瘢痕 | 頭蓋合骨症 | 高身長" ] }, { "id": "NANDO:1200803", "label_en": "Carbamoyl phosphate synthetase I deficiency", "label_ja": "CPSI欠損症", "yomigana": "しーぴーえすあいけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200803", "notificationNumber": "251", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Aminoaciduria | Ataxia | Autosomal recessive inheritance | Cerebral edema | Coma | Episodic ammonia intoxication | Failure to thrive | Global developmental delay | Hyperammonemia | Hypoargininemia | Hypotonia | Intellectual disability | Irritability | Lethargy | Low plasma citrulline | Neonatal onset | Protein avoidance | Respiratory alkalosis | Respiratory insufficiency | Seizure | Stroke | Vomiting" ], "symptoms_ja_list": [ "アミノ酸尿 | アンモニア中毒エピソード | 低アルギニン血症 | 全般性発達遅滞 | 卒中 | 呼吸不全 | 嘔吐 | 大脳浮腫 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 昏睡 | 活性減少アルカローシス | 無気力 | 発作 | 知的障害 | 筋緊張低下 | 蛋白回避 | 血症シトルリン低値 | 被刺激性 | 運動失調 | 高アンモニア血症" ] }, { "id": "NANDO:1200323", "label_en": "Adenosine deaminase deficiency", "label_ja": "アデノシンデアミナーゼ欠損症", "yomigana": "あでのしんであみなーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200323", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal pelvic girdle bone morphology | Abnormality of humoral immunity | Absence of lymph node germinal center | Absent specific antibody response | Allergy | Anterior rib cupping | Aplasia of the thymus | Asthma | Autoimmune hemolytic anemia | Autoimmune thrombocytopenia | Autoimmunity | Autosomal recessive inheritance | B-cell lymphoma | Chronic diarrhea | Decreased circulating IgA concentration | Decreased circulating IgG2 concentration | Decreased circulating IgM concentration | Decreased total B cell count | Decreased total T cell count | Decreased total lymphocyte count | Diarrhea | Diffuse mesangial sclerosis | Failure to thrive | Hepatomegaly | Increased circulating IgE concentration | Increased total eosinophil count | Infantile onset | Inflammatory abnormality of the skin | Motor delay | Neonatal onset | Platyspondyly | Pneumonia | Pulmonic regurgitation | Recurrent bacterial infections | Recurrent fever | Recurrent fungal infections | Recurrent mucocutaneous candidiasis | Recurrent opportunistic infections | Recurrent otitis media | Recurrent pneumonia | Recurrent upper respiratory tract infections | Recurrent viral infections | Severe combined immunodeficiency | Sinusitis | Skin rash | Splenomegaly | Typified by somatic mosaicism | obsolete Absent cellular immunity" ], "symptoms_ja_list": [ "B リンパ球減少症 | B-細胞リンパ腫 | IgA欠乏症 | IgE 値増加 | IgM欠乏症 | T リンパ球減少症 | びまん性メサンギウム硬化症 | アレルギー | リンパ球減少症 | リンパ節胚中心の異常 | 下痢 | 体細胞モザイク | 免疫グロブリン IgG2欠乏症 | 前方肋骨カッピング | 副鼻腔炎 | 反復性ウイルス感染症 | 反復性カビ感染症 | 反復性上気道感染症 | 反復性中耳炎 | 反復性日和見感染症 | 反復性細菌感染症 | 反復性肺炎 | 喘息 | 好酸球増多症 | 常染色体潜性遺伝 | 慢性下痢 | 慢性粘膜皮膚カンジダ症 | 成長障害 (成長不全) | 扁平脊椎 | 液性免疫の異常 | 特異的抗体反応の欠損 | 発熱エピソード | 皮膚の炎症性異常 | 皮膚発疹 | 細胞免疫の欠損 | 肝腫 | 肺不全 | 肺炎 | 胸腺無形成 | 脾腫 | 自己免疫 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 運動発達遅滞 | 重症複合型免疫不全 | 骨盤帯骨の形態異常" ] }, { "id": "NANDO:2200863", "label_en": "Other muscular dystrophy", "label_ja": "47から53に掲げるもののほか、筋ジストロフィー", "yomigana": "47から53にかかげるもののほか、きんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200863", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200052", "label_en": "Malignancy in giant cell tumour of bone", "label_ja": "悪性骨巨細胞腫", "yomigana": "あくせいこつきょさいぼうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200052", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201083", "label_en": "vitamin B6-responsive homocystinuria", "label_ja": "ビタミンB6反応型ホモシスチン尿症", "yomigana": "びたみんびー6はんのうがたほもしすちんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201083", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100080", "label_en": "Ebstein's anomaly", "label_ja": "エプスタイン病", "yomigana": "えぷすたいんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100080", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201153", "label_en": "Glycogen storage disease type 1a", "label_ja": "糖原病Ia型", "yomigana": "とうげんびょう1えーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201153", "notificationNumber": "63", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormal bleeding | Autosomal recessive inheritance | Childhood onset | Decreased glomerular filtration rate | Decreased muscle mass | Delayed puberty | Doll-like facies | Elevated circulating hepatic transaminase concentration | Enlarged kidney | Fasting hypoglycemia | Focal segmental glomerulosclerosis | Gout | Growth delay | Hepatocellular carcinoma | Hepatomegaly | Hyperlipidemia | Hypertension | Hyperuricemia | Hypoglycemia | Infantile onset | Intermittent diarrhea | Kidney stone | Lactic acidosis | Lipemia retinalis | Osteoporosis | Pancreatitis | Proteinuria | Protuberant abdomen | Short stature | Xanthelasma | Xanthomatosis" ], "symptoms_ja_list": [ "乳酸性アシドーシス | 人形様顔貌 | 低血糖 | 低身長 | 巣状分節性糸球体硬化症 | 常染色体潜性遺伝 | 思春期遅発 | 成長遅滞 | 異常な出血 | 空腹時低血糖 | 筋量減少 | 糸球体濾過率減少 | 網膜脂肪血症 | 肝トランスアミナーゼ上昇 | 肝細胞癌 | 肝腫 | 腎拡大 | 腎結石 | 腹部突出 | 膵炎 | 蛋白尿 | 通風 | 間歇的下痢 | 骨粗鬆症 | 高尿酸血症 | 高脂血症 | 高血圧 | 黄色板症 | 黄色腫症" ] }, { "id": "NANDO:2100077", "label_en": "Double-outlet left ventricle", "label_ja": "両大血管左室起始症", "yomigana": "りょうだいけっかんさしつきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100077", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200347", "label_en": "Selective IgA deficiency", "label_ja": "選択的IgA欠損症", "yomigana": "せんたくてきあいじーえーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200347", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200618", "label_en": "Ichthyosis syndrome", "label_ja": "魚鱗癬症候群", "yomigana": "ぎょりんせんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200618", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200265", "label_en": "Rheumatoid vasculitis", "label_ja": "悪性関節リウマチ", "yomigana": "あくせいかんせつりうまち", "url": "http://nanbyodata.jp/ontology/NANDO_1200265", "notificationNumber": "46", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200171", "label_en": "Multilocular cysts of the kidney", "label_ja": "多房性腎嚢胞", "yomigana": "たぼうせいじんのうほう", "url": "http://nanbyodata.jp/ontology/NANDO_2200171", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200177", "label_en": "Megacalycosis", "label_ja": "巨大腎杯症", "yomigana": "きょだいじんぱいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200177", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Abnormal renal physiology | Dilatation of renal calices | Enlarged kidney | Hematuria | Hydronephrosis | Kidney stone | Recurrent urinary tract infections | Renal cyst | Tubulointerstitial nephritis | Ureteral obstruction" ], "symptoms_ja_list": [ "反復性尿路感染症 | 尿管閉塞 | 尿細管間質性腎炎 | 巨大腎杯症 | 水腎症 | 腎嚢胞 | 腎拡大 | 腎生理異常 | 腎結石 | 血尿" ] }, { "id": "NANDO:2201341", "label_en": "Epidermolysis bullosa simplex", "label_ja": "単純型表皮水疱症", "yomigana": "たんじゅんがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201341", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200571", "label_en": "Focal cortical dysplasia type 3b", "label_ja": "限局性皮質異形成タイプ3b", "yomigana": "げんきょくせいひしついけいせいたいぷ3びー", "url": "http://nanbyodata.jp/ontology/NANDO_1200571", "notificationNumber": "137", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200963", "label_en": "Congenital mitral stenosis", "label_ja": "先天性僧帽弁狭窄症", "yomigana": "せんてんせいそうぼうべんきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200963", "notificationNumber": "312", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201049", "label_en": "Idiopathic central diabetes insipidus", "label_ja": "特発性中枢性尿崩症", "yomigana": "とくはつせいちゅうすうせいにょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201049", "notificationNumber": "75", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100117", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200773", "label_en": "CARD9 deficiency", "label_ja": "CARD9欠損症", "yomigana": "しーえーあーるでぃー9けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200773", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Abnormal total B cell count | Abnormality of blood and blood-forming tissues | Autosomal recessive inheritance | Childhood onset | Immunodeficiency | Increased circulating IgE concentration | Juvenile onset | Lymphadenopathy | Meningitis | Recurrent oral thrush | Unusual fungal nail infection" ], "symptoms_ja_list": [ "B 細胞数の異常 | IgE 値増加 | リンパ節腫大 | 免疫不全 | 常染色体潜性遺伝 | 慢性口腔カンジダ症 | 爪真菌症 | 血液および血液痙性組織の異常 | 髄膜炎" ] }, { "id": "NANDO:2200142", "label_en": "Renal vein thrombosis", "label_ja": "腎静脈血栓症", "yomigana": "じんじょうみゃくけっせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200142", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100017", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200808", "label_en": "Chronic active EB virus infection", "label_ja": "慢性活動性EBウイルス感染症", "yomigana": "まんせいかつどうせいいーびーういるすかんせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200808", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100211", "symptoms_en_list": [ "Anemia | Autosomal recessive inheritance | Bronchiectasis | Cerebral calcification | Decreased neutrophil oxidative burst | Decreased total monocyte count | Failure to thrive | Fever | Granulocytic hyperplasia | Hepatomegaly | Hypoalbuminemia | Immunodeficiency | Increased total eosinophil count | Increased total neutrophil count | Infantile onset | Pneumonia | Recurrent infections | Recurrent respiratory infections | Sinusitis | Splenomegaly | Thrombocytopenia" ], "symptoms_ja_list": [ "nitroblue tetrazolium (NBT) 還元試験陰性 | 免疫不全 | 副鼻腔炎 | 単球減少症 | 反復性呼吸器感染症 | 反復性感染症 | 大脳石灰化 | 好中球増多症 | 好酸球増多症 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 気管支拡張 | 発熱 | 肝腫 | 肺炎 | 脾腫 | 血小板減少 | 貧血 | 顆粒球過形成 | 高アルブミン血症" ] }, { "id": "NANDO:2200480", "label_en": "Argininosuccinate synthetase deficiency", "label_ja": "アルギニノコハク酸合成酵素欠損症", "yomigana": "あるぎにのこはくさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200480", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormality of the nervous system | Ankle clonus | Ataxia | Autosomal recessive inheritance | Borderline intellectual disability | Cerebral edema | Cirrhosis | Coma | Elevated plasma citrulline | Episodic ammonia intoxication | Failure to thrive | Feeding difficulties | Gastroesophageal reflux | Global developmental delay | Headache | Hepatic encephalopathy | Hepatic failure | Hepatomegaly | Hyperammonemia | Hyperglutaminemia | Hypoargininemia | Hypotonia | Increased intracranial pressure | Infantile onset | Intellectual disability | Irritability | Juvenile onset | Lethargy | Loss of consciousness | Migraine | Mild intellectual disability | Moderate intellectual disability | Neonatal onset | Oroticaciduria | Protein avoidance | Respiratory alkalosis | Scotoma | Seizure | Slurred speech | Spasticity | Stroke | Tachypnea | Torticollis | Vomiting" ], "symptoms_ja_list": [ "アンモニア中毒エピソード | オロチン酸尿 | 不明瞭言語 | 低アルギニン血症 | 偏頭痛 | 全般性発達遅滞 | 卒中 | 嘔吐 | 多呼吸 | 大脳浮腫 | 常染色体潜性遺伝 | 意識喪失 | 成長障害 (成長不全) | 斜頚 | 昏睡 | 暗点 | 活性減少アルカローシス | 無気力 | 痙性 | 発作 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "境界域 | 知的障害", "軽度 | 神経系の異常 | 筋緊張低下 | 肝不全 | 肝性脳症 | 肝硬変 | 肝腫 | 胃食道逆流 | 蛋白回避 | 血漿シトルリン上昇 | 被刺激性 | 足クローヌス | 運動失調 | 頭痛 | 頭蓋内圧の増加 | 食餌摂取障害 | 高アンモニア血症 | 高グルタミン血症" ] }, { "id": "NANDO:2200643", "label_en": "Polycythemia vera", "label_ja": "真性多血症", "yomigana": "しんせいたけつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200643", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100186", "symptoms_en_list": [ "Abdominal pain | Abnormal thrombosis | Abnormality of vision | Acute leukemia | Angina pectoris | Arterial thrombosis | Arthralgia | Autosomal dominant inheritance | Bruising susceptibility | Budd-Chiari syndrome | Cerebral hemorrhage | Cerebral ischemia | Epistaxis | Fatigue | Gastrointestinal hemorrhage | Gingival bleeding | Headache | Hepatomegaly | Hypertension | Increased circulating hemoglobin concentration | Increased hematocrit | Increased megakaryocyte count | Increased red blood cell mass | Increased total leukocyte count | Intermittent claudication | Late onset | Middle age onset | Myelodysplasia | Myelofibrosis | Paresthesia | Polycythemia | Portal hypertension | Pruritus | Pulmonary embolism | Respiratory insufficiency | Splenomegaly | Sporadic | Stroke | Thrombocytopenia | Thrombocytosis | Thromboembolism | Tinnitus | Typified by somatic mosaicism | Venous thrombosis | Vertigo | Weight loss" ], "symptoms_ja_list": [ "Budd-Chiari 症候群 | ヘマトクリット増加 | ヘモグロビン増加 | 体細胞モザイク | 体重喪失 | 出血傾向 | 動脈血栓症 | 卒中 | 呼吸不全 | 多血症 | 大脳出血 | 大脳虚血 | 孤発性 | 巨核球数増加 | 常染色体顕性遺伝 | 急性白血病 | 感覚異常 | 掻痒 | 歯肉出血 | 狭心症 | 異常な血栓症 | 疲労 | 白血球増多症 | 眩暈 | 耳鳴 | 肝腫 | 肺塞栓症 | 胃腸出血 | 脾腫 | 腹痛 | 血小板増多症 | 血小板減少 | 血栓塞栓症 | 視覚の異常 | 赤血球容量の増加 | 門脈圧亢進 | 間歇的跛行 | 関節痛 | 静脈血栓症 | 頭痛 | 骨髄異形成 | 骨髄線維症 | 高血圧 | 鼻出血" ] }, { "id": "NANDO:3000006", "label_en": "Fever, inflammation, skin rash, bone and joint syndrome group", "label_ja": "発熱・炎症・皮疹・骨関節症候群", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_3000006", "notificationNumber": "", "obsolete": 1, "category": "other", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200153", "label_en": "Autosomal dominant polycystic kidney disease", "label_ja": "常染色体優性多発性嚢胞腎", "yomigana": "じょうせんしょくたいゆうせいたはつせいのうほうじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200153", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Abnormal systemic arterial morphology | Abnormal urinary electrolyte concentration | Albuminuria | Aortic root aneurysm | Arachnoid cyst | Calcium oxalate nephrolithiasis | Chronic kidney disease | Decreased glomerular filtration rate | Dilatation of the cerebral artery | Elevated circulating creatinine concentration | Enlarged kidney | Hematuria | Hepatic cysts | Hypertension | Mitral valve prolapse | Pancreatic cysts | Pituitary growth hormone cell adenoma | Polycystic liver disease | Pyelonephritis | Recurrent urinary tract infections | Reduced sperm motility | Renal cyst | Renal insufficiency | Stage 5 chronic kidney disease | Uric acid nephrolithiasis" ], "symptoms_ja_list": [ "くも膜嚢胞 | アルブミン尿 | ステージ5慢性腎疾患 | 下垂体成長ホルモン細胞腺腫 | 僧帽弁逸脱 | 全身動脈枝の異常 | 反復性尿路感染症 | 多嚢胞性肝疾患 | 大動脈基部拡大 | 大脳動脈瘤 | 尿中電解質濃度異常 | 尿酸腎結石 | 慢性腎疾患 | 精子運動減少 | 糸球体濾過率減少 | 肝膿瘍 | 腎不全 | 腎嚢胞 | 腎拡大 | 腎盂腎炎 | 膵膿瘍 | 蓚酸カルシウム腎結石 | 血尿 | 血清クレアチン症状 | 高血圧" ] }, { "id": "NANDO:2200697", "label_en": "Omenn syndrome", "label_ja": "オーメン症候群", "yomigana": "おーめんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200697", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100203", "symptoms_en_list": [ "Abnormal lymphocyte morphology | Abnormal metaphysis morphology | Alopecia | Anemia | Aplasia/Hypoplasia of the eyebrow | Autoimmunity | Autosomal recessive inheritance | Chronic diarrhea | Decreased total B cell count | Desquamation of skin soon after birth | Diarrhea | Dry skin | Edema | Erythroderma | Failure to thrive | Fever | Hepatomegaly | Hypoplasia of the thymus | Hypoproteinemia | Hypothyroidism | Increased total eosinophil count | Increased total leukocyte count | Lymphadenopathy | Lymphoma | Nephrotic syndrome | Pneumonia | Pruritus | Recurrent bacterial infections | Recurrent fungal infections | Recurrent viral infections | Sepsis | Severe combined immunodeficiency | Short toe | Splenomegaly | Thickened skin | Thrombocytopenia | Thyroiditis" ], "symptoms_ja_list": [ "B リンパ球減少症 | ネフローゼ症候群 | リンパ球の異常 | リンパ節腫大 | リンパ腫 | 下痢 | 乾いた皮膚 | 低タンパク血症 | 分厚い皮膚 | 反復性ウイルス感染症 | 反復性カビ感染症 | 反復性細菌感染症 | 好酸球増多症 | 常染色体潜性遺伝 | 慢性下痢 | 成長障害 (成長不全) | 掻痒 | 敗血症 | 浮腫 | 生後すぐの皮膚落屑 | 甲状腺機能低下症 | 甲状腺炎 | 発熱 | 白血球増多症 | 眉毛の無形成/低形成 | 短い趾 | 禿頭 | 紅皮症 | 肝腫 | 肺炎 | 胸腺低形成 | 脾腫 | 自己免疫 | 血小板減少 | 貧血 | 重症複合型免疫不全 | 骨幹端の異常" ] }, { "id": "NANDO:2100073", "label_en": "Tricuspid atresia", "label_ja": "三尖弁閉鎖症", "yomigana": "さんせんべんへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100073", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200722", "label_en": "Transient hypogammaglobulinemia of infancy with normal numbers of B cells", "label_ja": "乳児一過性低ガンマグロブリン血症", "yomigana": "にゅうじいっかせいていがんまぐろぶりんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200722", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100205", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200126", "label_en": "Alport syndrome", "label_ja": "慢性糸球体腎炎（アルポート 症候群によるものに限る。）", "yomigana": "まんせいしきゅうたいじんえん（あるぽーとしょうこうぐんによるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200126", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [ "Abnormal aortic morphology | Abnormal corneal endothelium morphology | Abnormality of the eye | Anterior lenticonus | Aortic aneurysm | Clitoral hypertrophy | Cough | Diffuse leiomyomatosis | Dysphagia | Dyspnea | Focal segmental glomerulosclerosis | Glomerular C3 deposition | Hematuria | Hypertension | IgA deposition in the glomerulus | Macular degeneration | Mesangial hypercellularity | Microscopic hematuria | Nephritis | Nephrotic syndrome | Posterior subcapsular cataract | Proteinuria | Recurrent bronchitis | Recurrent corneal erosions | Renal insufficiency | Renal tubular atrophy | Retinal flecks | Sensorineural hearing impairment | Stage 5 chronic kidney disease | Stridor | Thickened glomerular basement membrane | Thin glomerular basement membrane | Tubulointerstitial fibrosis | Vomiting" ], "symptoms_ja_list": [ "C3 腎症 | IgA 沈着 (糸球体) | びまん性横紋筋腫症 | ステージ5慢性腎疾患 | ネフローゼ症候群 | メサンギウム増殖 | 前部円錐水晶体 | 反復性気管支炎 | 反復性角膜びらん | 呼吸困難 | 喘鳴 | 嘔吐 | 嚥下障害 | 外層 | 大動脈の異常 | 大動脈瘤 | 尿細管萎縮 | 尿細管間質 線維症 | 巣状分節性糸球体硬化症 | 後嚢下白内障 | 感音難聴 | 眼の異常 | 糸球体基底膜肥厚 | 糸球体基底膜菲薄化 | 網膜色素斑 | 腎不全 | 腎炎 | 蛋白尿 | 血尿 | 角膜内皮の異常 | 陰核肥大 | 顕微血尿 | 高血圧 | 黄斑変性" ] }, { "id": "NANDO:1200128", "label_en": "Alpha-mannosidosis, adult form", "label_ja": "若年成人型α - マンノシドーシス", "yomigana": "じゃくねんせいじんがたあるふぁまんのしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200128", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Anxiety | Aortic regurgitation | Ataxia | Atypical behavior | Cataract | Cerebellar atrophy | Cerebral cortical atrophy | Clumsiness | Confusion | Corneal opacity | Delayed speech and language development | Delusion | Depression | Drowsiness | Hallucinations | Hepatosplenomegaly | Immunodeficiency | Macroglossia | Mild intellectual disability | Mixed hearing impairment | Myopia | Oligosacchariduria | Optic disc pallor | Osteopenia | Pancytopenia | Pneumonia | Recurrent infections | Subcortical cerebral atrophy" ], "symptoms_ja_list": [ "うつ | オリゴ糖尿 | 不器用 | 不安 | 免疫不全 | 反復性感染症 | 大動脈逆流 | 大脳皮質萎縮 | 妄想 | 小脳萎縮 | 巨舌 | 幻覚 | 汎血球減少症 | 混合性難聴 | 発語および言語発達遅延 | 白内障 | 皮質下 大脳萎縮 | 眠気 | 知的障害", "軽度 | 肝脾腫 | 肺炎 | 行動異常 | 視神経杯蒼白 | 角膜混濁 | 近視 | 運動失調 | 錯乱 | 骨減少症" ] }, { "id": "NANDO:2200365", "label_en": "Aldosterone synthase deficiency", "label_ja": "アルドステロン合成酵素欠損症", "yomigana": "あるどすてろんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200365", "notificationNumber": "68", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100132", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201503", "label_en": "Focal cortical dysplasia type 2b", "label_ja": "限局性皮質異形成タイプ2b", "yomigana": "げんきょくせいひしついけいせいたいぷ2びー", "url": "http://nanbyodata.jp/ontology/NANDO_2201503", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200125", "label_en": "Goodpasture syndrome", "label_ja": "抗糸球体基底膜腎炎", "yomigana": "こうしきゅうたいきていまくじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200125", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [ "Anemia | Arthralgia | Arthritis | Autoimmunity | Chest pain | Cough | Cyanosis | Cylindruria | Erythrocyte cylindruria | Exertional dyspnea | Fatigue | Fever | Glomerulonephritis | Glomerulopathy | Hematuria | Hemoptysis | Increased blood urea nitrogen | Macroscopic hematuria | Myalgia | Pallor | Persistence of primary teeth | Polygenic inheritance | Proteinuria | Pulmonary infiltrates | Purpura | Renal insufficiency | Respiratory insufficiency | Restrictive ventilatory defect | Retinal detachment | Tachypnea | Vasculitis | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "チアノーゼ | 乳歯遺残 | 体重喪失 | 共通 | 円柱尿 | 呼吸不全 | 喀血 | 外層 | 多呼吸 | 多因子遺伝 | 拘束性肺疾患 | 疲労 | 発熱 | 筋痛 | 糸球体症 | 糸球体腎炎 | 紫斑 | 網膜剥離 | 肉眼的血尿 | 肺浸潤 | 腎不全 | 自己免疫 | 蒼白 | 蛋白尿 | 血中尿素窒素(BUN)増加 | 血尿 | 血管炎 | 貧血 | 赤血球円柱尿 | 運動性呼吸困難 | 関節炎 | 関節痛" ] }, { "id": "NANDO:1200875", "label_en": "Thanatophoric dysplasia type 1", "label_ja": "タナトフォリック骨異形成症1型", "yomigana": "たなとふぉりっくこついけいせいしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200875", "notificationNumber": "275", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal metaphysis morphology | Abnormal sacroiliac joint morphology | Abnormality of the kidney | Acanthosis nigricans | Aplasia/Hypoplasia of the lungs | Atrial septal defect | Autosomal dominant inheritance | Bowing of the long bones | Brachydactyly | Breech presentation | Cloverleaf skull | Congenital onset | Decreased fetal movement | Depressed nasal bridge | Disproportionate short-limb short stature | Excessive wrinkled skin | Femoral bowing | Flared metaphysis | Flat face | Frontal bossing | Global developmental delay | Gray matter heterotopia | Hearing impairment | Hydrocephalus | Hypoplastic ilia | Hypoplastic pelvis | Hypotonia | Increased nuchal translucency | Joint stiffness | Kyphosis | Lethal short-limbed short stature | Macrocephaly | Metaphyseal irregularity | Micromelia | Midface retrusion | Narrow chest | Neonatal death | Neonatal respiratory distress | Patent ductus arteriosus | Platyspondyly | Polyhydramnios | Profound intellectual disability | Prominent forehead | Proptosis | Protuberant abdomen | Pulmonary hypoplasia | Redundant skin | Respiratory insufficiency | Seizure | Severe platyspondyly | Short femur | Short greater sciatic notch | Short long bone | Short neck | Short ribs | Skeletal dysplasia | Small abnormally formed scapulae | Small face | Small foramen magnum | Split hand | Thoracic hypoplasia | Ventriculomegaly | Wide anterior fontanel | Wide-cupped costochondral junctions" ], "symptoms_ja_list": [ "クローバー型頭蓋骨 | 不均衡型短肢低身長 | 仙腸関節の異常 | 全般性発達遅滞 | 前頭突出", "額突出 | 動脈管開存症 | 呼吸不全 | 大腿骨湾曲 | 大頭 | 小さい仙腸骨切痕 | 小さい大孔 | 小さい顔 | 小さな異常形成された肩甲骨 | 小肢症 | 常染色体顕性遺伝 | 幅広い-杯状の肋軟骨接合部 | 幅広い大泉門 | 平坦な顔 | 後弯 | 心房中隔欠損 | 扁平脊椎 | 新生児呼吸窮迫 | 水頭症 | 狭い胸郭 | 発作 | 目立つ額 | 眼球突出 | 知的障害", "最重度 | 短い大腿骨 | 短い肋骨 | 短い長管骨 | 短い頸部 | 短指症候群 | 筋緊張低下 | 組織異所発生 | 羊水過多 | 肺低形成 | 肺無形成/低形成 | 胎動減少 | 胸郭低形成 | 脳室拡大 | 腎異常 | 腸骨低形成 | 腹部突出 | 致死性短肢低身長 | 落ちくぼんだ鼻梁 | 裂手 | 過剰な皮膚 | 過剰な皺の多い皮膚 | 重度の扁平脊椎 | 長管骨湾曲 | 関節拘縮 | 難聴 | 項部透過性増加 | 顔面中部後退 | 骨幹端の異常 | 骨幹端フレア | 骨幹端不規則性 | 骨格異形成 | 骨盤位 | 骨盤低形成 | 黒色表皮腫" ] }, { "id": "NANDO:1200595", "label_en": "Epilepsy of infancy with migrating focal seizures", "label_ja": "遊走性焦点発作を伴う乳児てんかん", "yomigana": "ゆうそうせいしょうてんほっさをともなうにゅうじてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200595", "notificationNumber": "148", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal corpus callosum morphology | Bilateral tonic-clonic seizure | Bilateral tonic-clonic seizure with focal onset | Cerebral atrophy | Cognitive impairment | Delayed myelination | Developmental regression | Epileptic spasm | Failure to thrive | Focal emotional seizure with laughing | Focal hemiclonic seizure | Focal impaired awareness seizure | Functional motor deficit | Hypertonia | Hypotonia | Hypsarrhythmia | Inability to walk | Microcephaly | Multifocal epileptiform discharges | Neurodevelopmental delay | Precocious puberty | Scoliosis | Visual impairment" ], "symptoms_ja_list": [ "てんかん性スパスム | ヒプスアリスミア | 両側性けいれん発作 | 側弯 | 全身性間代性強直性発作 | 多焦点性てんかん型放電 | 大脳萎縮 | 小頭 | 思春期早発 | 意識または覚醒障害を伴う焦点性発作 | 成長障害 (成長不全) | 機能的筋異常 | 歩行不能 | 片側間代性発作 | 発達退行 | 神経発生遅延 | 笑い発作 | 筋緊張亢進 | 筋緊張低下 | 脳梁の異常 | 視力障害 | 認知障害 | 髄鞘形成遅延" ] }, { "id": "NANDO:3000004", "label_en": "Cardiomyopathy group (mainly adult onset)", "label_ja": "心筋症群（主として成人発症もの）", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_3000004", "notificationNumber": "", "obsolete": 1, "category": "other", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201394", "label_en": "Hemimegaloencephaly", "label_ja": "片側巨脳症", "yomigana": "へんそくきょのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201394", "notificationNumber": "92", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [ "Abnormal neuron morphology | Abnormal skull morphology | Atonic seizure | Cranial asymmetry | Cranial nerve paralysis | EEG with burst suppression | EEG with focal sharp slow waves | EEG with focal spikes | EEG with polyspike wave complexes | Epileptic spasm | Focal motor seizure | Focal tonic seizure | Functional motor deficit | Gliosis | Global developmental delay | Gray matter heterotopia | Hemianopia | Hemihypsarrhythmia | Hemimegalencephaly | Hemiparesis | Macrocephaly | Myoclonus | Oculomotor nerve palsy | Optic atrophy | Pachygyria | Polymicrogyria | Seizure | Severe intellectual disability | Status epilepticus | Ventriculomegaly" ], "symptoms_ja_list": [ "てんかん性スパスム | てんかん重積 | ミオクローヌス | 全般性発達遅滞 | 半盲 | 多小脳回 | 多棘除波複合を伴う脳波 | 大頭 | 機能的筋異常 | 焦点性棘徐波を伴う脳波 | 焦点性棘波を伴う脳波 | 焦点性運動発作 | 焦点性間代性発作 | 片側ヒプスアリスミア | 片側不全麻痺 | 片側巨脳症 | 異常なニューロン形態 | 発作 | 眼球運動神経麻痺 | 知的障害", "重度 | 神経膠症 | 組織異所発生 | 群発‐抑制交代を伴う脳波 | 脱力発作 | 脳回肥厚 | 脳室拡大 | 脳神経麻痺 | 視神経萎縮 | 頭蓋非対称 | 頭蓋骨の異常" ] }, { "id": "NANDO:1200353", "label_en": "Severe congenital neutropenia", "label_ja": "重症先天性好中球減少症", "yomigana": "じゅうしょうせんてんせいこうちゅうきゅうげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200353", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201531", "label_en": "RAPADILINO symdrome", "label_ja": "ラパデリノ症候群", "yomigana": "らぱでぃりのしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201531", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Absent thumb | Aplasia/Hypoplasia of the patella | Aplasia/Hypoplasia of the radius | Aplasia/Hypoplasia of the thumb | Autosomal recessive inheritance | Blepharophimosis | Cleft palate | Decreased circulating immunoglobulin concentration | Decreased total T cell count | Diarrhea | Feeding difficulties | Hearing impairment | High palate | High", "narrow palate | Intellectual disability | Intrauterine growth retardation | Joint dislocation | Long face | Mild intellectual disability | Mottled pigmentation | Poikiloderma | Postnatal growth retardation | Short chin | Short stature | Slender nose | Sparse eyelashes | Sparse scalp hair | Stiff interphalangeal joints" ], "symptoms_ja_list": [ "T リンパ球減少症 | 下痢 | 低ガンマグロブリン血症 | 低身長 | 口蓋裂 | 多形皮膚萎縮症 (ポイキロデルマ) | 子宮内成長遅滞 | 常染色体潜性遺伝 | 斑状色素沈着 | 橈骨無形成/低形成 | 母指欠損 | 母指無形成/低形成 | 生後の成長遅滞 | 疎な睫毛 | 疎な頭髪 | 眼瞼裂狭小 | 知的障害 | 知的障害", "軽度 | 短い下顎 | 硬い指間(IP)関節 | 細い鼻 | 膝蓋骨無形成/低形成 | 長い顔 | 関節脱臼 | 難聴 | 食餌摂取障害 | 高口蓋 | 高狭口蓋" ] }, { "id": "NANDO:2201163", "label_en": "Glycogen storage disease type IV, adult form", "label_ja": "成人型糖原病IV型", "yomigana": "せいじんがたとうげんびょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201163", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal pyramidal sign | Abnormal upper motor neuron morphology | Abnormality of extrapyramidal motor function | Absent Achilles reflex | Ataxia | Atypical behavior | Autosomal recessive inheritance | Cognitive impairment | Dementia | Distal sensory impairment | EMG abnormality | Gait disturbance | Hemiparesis | Increased CSF protein concentration | Intellectual disability | Limitation of joint mobility | Middle age onset | Muscle spasm | Muscle weakness | Neurogenic bladder | Orthostatic hypotension | Paresthesia | Peripheral axonal neuropathy | Peripheral neuropathy | Skin ulcer | Slowly progressive | Spastic paraplegia | Spasticity | Tetraparesis | Urinary bladder sphincter dysfunction | Urinary incontinence" ], "symptoms_ja_list": [ "Dementia | アキレス腱反射欠損 | 上運動ニューロン異常 | 四肢不全麻痺 | 大脳白質の異常 | 常染色体潜性遺伝 | 感覚異常 | 末梢神経ニューロパチー | 末梢神経軸索ニューロパチー | 歩行障害 | 片側不全麻痺 | 痙性 | 痙性対麻痺 | 皮膚潰瘍 | 知的障害 | 神経因性膀胱 | 筋けいれん | 筋虚弱 | 筋電図異常 | 膀胱括約筋機能障害 | 行動異常 | 認知障害 | 起立性低血圧 | 運動失調 | 遠位感覚障害 | 遺尿 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 関節運動制限 | 髄液タンパクの増加" ] }, { "id": "NANDO:2200139", "label_en": "Familial juvenile hyperuricemic nephropathy", "label_ja": "家族性若年性高尿酸血症性腎症", "yomigana": "かぞくせいじゃくねんせいこうにょうさんけっしょうせいじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200139", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100014", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200351", "label_en": "X-linked lymphoproliferative syndrome", "label_ja": "X連鎖リンパ増殖症候群", "yomigana": "えっくすれんさりんぱぞうしょくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200351", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201254", "label_en": "Heterozygous familial hypercholesterolemia", "label_ja": "家族性高コレステロール血症ヘテロ接合体", "yomigana": "かぞくせいこうこれすてろーるけっしょうへてろせつごうたい", "url": "http://nanbyodata.jp/ontology/NANDO_2201254", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100171", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201495", "label_en": "Posttraumatic Syringomyelia", "label_ja": "外傷に続発した脊髄空洞症", "yomigana": "がいしょうにぞくはつしたせきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201495", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200876", "label_en": "Schwartz-Jampel syndrome", "label_ja": "シュワルツ・ヤンペル症候群", "yomigana": "しゅわるつ・やんぺるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200876", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100235", "symptoms_en_list": [ "Abnormal epiphysis morphology | Abnormal eyebrow morphology | Abnormal metaphysis morphology | Abnormal rib morphology | Abnormal speech pattern | Abnormality of immune system physiology | Abnormality of the pharynx | Abnormality of the ureter | Abnormality of the urinary system | Abnormally high-pitched voice | Abnormally ossified vertebrae | Abnormally straight spine | Anxiety | Aplasia/Hypoplasia affecting the eye | Apnea | Arrhythmia | Arthrogryposis multiplex congenita | Attention deficit hyperactivity disorder | Blepharophimosis | Blepharospasm | Bowing of the long bones | Cachexia | Cataract | Cleft palate | Coxa valga | Coxa vara | Death in infancy | Decreased body weight | Decreased testicular size | Delayed skeletal maturation | Dental malocclusion | Distichiasis | Dysphonia | EMG abnormality | Ectopia lentis | Elbow dislocation | Elevated circulating aldolase concentration | Elevated circulating creatine kinase activity | Everted lower lip vermilion | Feeding difficulties in infancy | Flat face | Flexion contracture of toe | Full cheeks | Gait disturbance | Generalized hirsutism | Genu valgum | High palate | Hip contracture | Hip dysplasia | Hyperlordosis | Hypertelorism | Hypertonia | Hyporeflexia | Increased bone mineral density | Inguinal hernia | Intellectual disability | Irritability | Joint stiffness | Kidney stone | Kyphosis | Laryngomalacia | Long eyelashes in irregular rows | Long philtrum | Low anterior hairline | Malignant hyperthermia | Mask-like facies | Metatarsus valgus | Microcephaly | Microcornea | Micrognathia | Micromelia | Muscle weakness | Myalgia | Myopathy | Myopia | Myotonia | Narrow mouth | Odontogenic neoplasm | Osteoporosis | Overfolded helix | Pectus carinatum | Pectus excavatum | Pes planus | Platyspondyly | Polyhydramnios | Posteriorly rotated ears | Prenatal movement abnormality | Prominent nasal bridge | Protrusio acetabuli | Ptosis | Pulmonary arterial hypertension | Pursed lips | Respiratory insufficiency | Scoliosis | Short neck | Short stature | Shoulder flexion contracture | Skeletal dysplasia | Skeletal muscle atrophy | Skeletal muscle hypertrophy | Spinal rigidity | Sprengel anomaly | Strabismus | Supernumerary tooth | Talipes equinovarus | Testicular torsion | Trismus | Umbilical hernia | Visual impairment | Weak voice | Wormian bones | Wrist flexion contracture" ], "symptoms_ja_list": [ "Sprengel 奇形 | すぼめた口唇 | はと胸 | アルドラーゼ値上昇 | ウォルム氏骨 | ミオトニア | ミオパチー | 下口唇唇紅部外反 | 不安 | 不整脈 | 不正咬合 | 不規則な列の長い睫毛 | 両眼隔離 | 二重睫毛 | 仮面様顔貌 | 低い前部毛髪線 | 低身長 | 体重減少 | 側弯 | 先天性多発性関節拘縮 | 免疫系生理の異常 | 全身性多毛 | 内反尖足 | 内反股 | 出生前の運動異常 | 前弯 | 反射低下 | 口蓋裂 | 呼吸不全 | 咽頭の異常 | 喉頭軟化症 | 外反股 | 外反膝 | 外転中足骨 | 大きな頬 | 寛骨臼突出 | 小肢症 | 小角膜 | 小頭 | 小顎 | 尿管異常 | 尿路異常 | 平坦な顔 | 弱い声 | 後弯 | 悪性高体温症 | 悪液質 (カヘキシー) | 扁平脊椎 | 扁平足 | 手関節屈曲拘縮 | 斜視 | 歩行障害 | 歯数増加 | 歯源性新生物 | 注意力欠陥多動性疾患 | 漏斗胸 | 無呼吸 | 狭い口 | 異常にまっすぐな脊椎 | 異所性水晶体 | 発音障害 | 白内障 | 目立つ鼻梁 | 眉毛の異常 | 眼無形成/低形成 | 眼瞼スパスム | 眼瞼下垂 | 眼瞼裂狭小 | 知的障害 | 短い頸部 | 神経学的発語障害 | 筋痛 | 筋緊張亢進 | 筋肥大 | 筋萎縮 | 筋虚弱 | 筋電図異常 | 精巣サイズ減少 | 精巣捻転 | 羊水過多 | 耳介後方回転 | 耳輪の過剰な巻き込み | 肋骨の異常 | 肘脱臼 | 股関節拘縮 | 股関節異形成 | 肩屈曲拘縮 | 肺高血圧 | 脊椎強直 | 脊椎骨骨化異常 | 腎結石 | 臍ヘルニア | 血清 creatine phosphokinase上昇 | 被刺激性 | 視力障害 | 趾屈曲拘縮 | 近視 | 長い人中 | 長管骨湾曲 | 開口障害 (牙関緊急) | 関節拘縮 | 食餌摂取障害 in infancy | 骨ミネラル濃度の増加 | 骨幹端の異常 | 骨格異形成 | 骨格骨化遅延 | 骨端の異常 | 骨粗鬆症 | 高口蓋 | 高音の声 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200929", "label_en": "IgG4-related dacryoadenitis and sialadenitis", "label_ja": "IgG4関連涙腺・眼窩および唾液腺病変", "yomigana": "あいじーじー4かんれんるいせん・がんかおよびだえきせんびょうへん", "url": "http://nanbyodata.jp/ontology/NANDO_1200929", "notificationNumber": "300", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal lacrimal duct morphology | Abnormal optic nerve morphology | Abnormal salivary gland morphology | Abnormality of the extraocular muscles | Abnormality of the orbital region | Abnormality of the submandibular glands | Antinuclear antibody positivity | Autoimmunity | Blindness | Enlarged lacrimal glands | Enlargement of parotid gland | Facial edema | Fatigue | Fever | Generalized muscle weakness | Increased circulating IgA concentration | Increased circulating IgM concentration | Keratoconjunctivitis sicca | Lymphadenopathy | Myositis | Nodular goiter | Optic nerve compression | Palpebral edema | Periorbital fullness | Proptosis | Retroperitoneal fibrosis | Thrombocytopenia | Thyroiditis | Tubulointerstitial nephritis | Weight loss | Xerostomia" ], "symptoms_ja_list": [ "IgA 値増加 | IgM 値増加 | リンパ節腫大 | 乾燥性 | 体重喪失 | 全身性筋虚弱 | 口内乾燥症 | 唾液腺の異常 | 外眼筋の異常 | 大きな眼窩周囲 | 尿細管間質性腎炎 | 後腹膜線維症 | 抗核抗体陽性 | 涙管の異常 | 涙腺拡大 | 甲状腺炎 | 疲労 | 発熱 | 盲 | 眼球突出 | 眼瞼浮腫 | 眼窩領域の異常 | 筋炎 | 結節性甲状腺腫 | 耳下腺拡大 | 自己免疫 | 血小板減少 | 視神経の異常 | 視神経神経圧迫 | 顎下腺の異常 | 顔面浮腫" ] }, { "id": "NANDO:2201475", "label_en": "Budd-Chiari syndrome", "label_ja": "バッド・キアリ症候群", "yomigana": "ばっど・きありしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201475", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100269", "symptoms_en_list": [ "Abdominal pain | Acute hepatic failure | Adult onset | Ascites | Autosomal recessive inheritance | Budd-Chiari syndrome | Cholecystitis | Cirrhosis | Elevated circulating alkaline phosphatase concentration | Elevated circulating hepatic transaminase concentration | Esophageal varix | Fever | Gastrointestinal hemorrhage | Gastrointestinal infarctions | Hepatic encephalopathy | Hepatocellular carcinoma | Hepatomegaly | Intestinal obstruction | Jaundice | Malabsorption | Peritonitis | Portal hypertension | Renal insufficiency | Splenomegaly | Weight loss" ], "symptoms_ja_list": [ "Budd-Chiari 症候群 | アルカリホスファターゼ上昇 | 体重喪失 | 吸収障害 | 常染色体潜性遺伝 | 急性肝不全 | 発熱 | 肝トランスアミナーゼ上昇 | 肝性脳症 | 肝硬変 | 肝細胞癌 | 肝腫 | 胃腸出血 | 胃腸梗塞 | 胆嚢炎 | 脾腫 | 腎不全 | 腸閉塞 | 腹水 | 腹痛 | 腹膜炎 | 門脈圧亢進 | 食道静脈瘤 | 黄疸" ] }, { "id": "NANDO:2100071", "label_en": "Hypoplastic left heart syndrome", "label_ja": "左心低形成症候群", "yomigana": "さしんていけいせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100071", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100113", "label_en": "Growth hormone deficiency", "label_ja": "成長ホルモン分泌不全性低身長症", "yomigana": "せいちょうほるもんぶんぴつふぜんせいていしんちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100113", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200940", "label_en": "Congenital hepatoportal arteriovenous fistula", "label_ja": "門脈・肝動脈瘻", "yomigana": "もんみゃく・かんどうみゃくろう", "url": "http://nanbyodata.jp/ontology/NANDO_2200940", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100269", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200704", "label_en": "Single ventricle", "label_ja": "単心室症", "yomigana": "たんしんしつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200704", "notificationNumber": "210", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Arrhythmia | Cardiomegaly | Congestive heart failure | Cyanosis | Esophageal varix | Failure to thrive | Hepatomegaly | Hypoplastic left ventricle | Hypoxemia | Respiratory distress | Tachypnea" ], "symptoms_ja_list": [ "うっ血性心不全 | チアノーゼ | 不整脈 | 低酸素血症への感受性の減少 | 呼吸窮迫 | 多呼吸 | 左心低形成 | 心拡大 | 成長障害 (成長不全) | 肝腫 | 食道静脈瘤" ] }, { "id": "NANDO:1200345", "label_en": "Hyper-IgM syndrome", "label_ja": "高IgM症候群", "yomigana": "こうあいじーえむしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200345", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201356", "label_en": "X-linked recessive brachytelephalangic chondrodysplasia punctata", "label_ja": "X連鎖性劣性末節骨短縮型点状軟骨異形成症", "yomigana": "えっくすれんさせいれっせいまっせつこつたんしゅくがたてんじょうなんこついけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201356", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal hyoid bone morphology | Abnormal ossification involving the femoral head and neck | Abnormality of the costochondral junction | Abnormality of the vertebral column | Anosmia | Asthma | Atlantoaxial instability | Atrial septal defect | Broad nasal tip | Butterfly vertebrae | C1-C2 subluxation | Calcaneal epiphyseal stippling | Cataract | Central apnea | Cervical cord compression | Cervical kyphosis | Cervical spinal canal stenosis | Cervical spine instability | Cervical vertebral dysplasia | Coronal cleft vertebrae | Depressed nasal bridge | Depressed nasal ridge | Epiphyseal stippling | Epiphyseal stippling of toe phalanges | Feeding difficulties | Gastroesophageal reflux | Global developmental delay | Hearing impairment | Hypogonadism | Hypoplasia of the anterior nasal spine | Hypoplasia of the maxilla | Hypoplastic cervical vertebrae | Ichthyosis | Increased nuchal translucency | Laryngeal calcification | Microcephaly | Mixed hearing impairment | Nasal congestion | Neonatal respiratory distress | Optic disc hypoplasia | Optic nerve hypoplasia | Patent ductus arteriosus | Postnatal growth retardation | Proportionate short stature | Pulmonary artery stenosis | Punctate vertebral calcifications | Recurrent respiratory infections | Respiratory failure requiring assisted ventilation | Short columella | Short distal phalanx of finger | Short distal phalanx of toe | Short nasal septum | Short nose | Short stature | Spinal canal stenosis | Stippling of the epiphyses of the distal phalanges of the hand | Tachypnea | Thick nasal alae | Tracheal calcification | Tracheal stenosis | Ventricular septal defect | Vertebral hypoplasia | X-linked recessive inheritance" ], "symptoms_ja_list": [ "C1-C2 亜脱臼 | X連鎖潜性遺伝 | 上顎低形成 | 不均衡型低身長 | 中枢性無呼吸 | 低身長 | 全般性発達遅滞 | 冠状脊椎裂 | 分厚い鼻翼 | 前鼻背低形成 | 動脈管開存症 | 反復性呼吸器感染症 | 喉頭石灰化 | 喘息 | 多呼吸 | 大腿骨頭および頸部の骨化異常 | 小頭 | 幅広い鼻尖 | 心室中隔欠損 | 心房中隔欠損 | 性腺機能低下症 | 手の末節骨骨端の点状石灰化 | 新生児呼吸窮迫 | 気管狭窄 | 気管石灰化 | 混合性難聴 | 無嗅覚 | 環軸椎不安定 | 生後の成長遅滞 | 白内障 | 短い指末節骨 | 短い趾末節骨 | 短い鼻 | 短い鼻中隔 | 短い鼻小柱 | 肋軟骨接合部異常 | 肺動脈狭窄 | 胃食道逆流 | 脊柱の異常 | 脊椎低形成 | 脊椎点状石灰化 | 脊椎管狭窄 | 落ちくぼんだ鼻梁 | 蝶形脊椎骨 | 補助換気が必要な呼吸不全 | 視神経低形成 | 視神経杯低形成 | 趾骨の骨端点状石灰化 | 踵骨点状骨端 | 難聴 | 項部透過性増加 | 頚椎不安定 | 頚椎低形成 | 頚椎後弯 | 頚椎異形成 | 頚椎管後索 | 頚髄圧迫 | 食餌摂取障害 | 骨端点状石灰化 | 高度/補酵素活性異常 | 魚鱗癬 | 鼻閉" ] }, { "id": "NANDO:2201270", "label_en": "Hepatoerythropoietic porphyria", "label_ja": "肝性骨髄性ポルフィリン症", "yomigana": "かんせいこつずいせいぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201270", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100173", "symptoms_en_list": [ "Abnormal bleeding | Abnormal blistering of the skin | Abnormal circulating enzyme concentration or activity | Abnormal circulating porphyrin concentration | Abnormality of the amniotic fluid | Blindness | Corneal ulceration | Ectropion | Edema | Erythroid hyperplasia | Facial hypertrichosis | Fragile skin | Hemolytic anemia | Hyperpigmentation of the skin | Hypopigmentation of the skin | Keratoconjunctivitis | Loss of eyelashes | Nonimmune hydrops fetalis | Osteolysis | Osteopenia | Osteoporosis | Paresthesia | Pruritus | Recurrent bacterial skin infections | Scarring | Scarring alopecia of scalp | Scleritis | Severe photosensitivity | Skin erosion | Splenomegaly | Thickened skin" ], "symptoms_ja_list": [ "ヘム生合成経路の異常 | 分厚い皮膚 | 反復性細菌性皮膚感染症 | 外反(眼瞼) | 感覚異常 | 掻痒 | 浮腫 | 溶血性貧血 | 異常な出血 | 異常な皮膚水泡 | 瘢痕 | 皮膚びらん | 皮膚低色素 | 皮膚高色素 | 盲 | 睫毛喪失 | 羊水の異常 | 胸膜炎 | 脆い皮膚 | 脾腫 | 角結膜炎 | 角膜潰瘍 | 赤芽球系過形成 | 重度の光線過敏症 | 非免疫性胎児水腫 | 頭皮の瘢痕性禿頭 | 顔面多毛症 | 骨減少症 | 骨粗鬆症 | 骨融解 | 高度/補酵素活性異常" ] }, { "id": "NANDO:1201146", "label_en": "DYT27 Dystonia", "label_ja": "DYT27 ジストニア", "yomigana": "でぃーわいてぃー27じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1201146", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Action tremor | Autosomal recessive inheritance | Axial dystonia | Focal dystonia | Juvenile onset | Laryngeal dystonia | Limb dystonia | Oromandibular dystonia | Postural tremor | Torticollis | Upper limb postural tremor | Writer's cramp | Young adult onset" ], "symptoms_ja_list": [ "上肢姿勢性振戦 | 作動振戦 | 口下顎ジストニア | 喉頭ジストニア | 四肢ジストニア | 姿勢性振戦 | 常染色体潜性遺伝 | 斜頚 | 書痙 | 焦点性ジストニア | 軸性ジストニア" ] }, { "id": "NANDO:2100066", "label_en": "Idiopathic rupture of chordae tendineae of the mitral valve in infants", "label_ja": "乳児特発性僧帽弁腱索断裂", "yomigana": "にゅうじとくはつせいそうぼうべんけんさくだんれつ", "url": "http://nanbyodata.jp/ontology/NANDO_2100066", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200183", "label_en": "Ureteroceles", "label_ja": "尿管瘤", "yomigana": "にょうかんりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2200183", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100025", "symptoms_en_list": [ "Autosomal dominant inheritance | Duplicated collecting system | Ureterocele" ], "symptoms_ja_list": [ "尿管瘤 | 常染色体顕性遺伝 | 集合管重複" ] }, { "id": "NANDO:2100083", "label_en": "Cor triatriatum", "label_ja": "三心房心", "yomigana": "さんしんぼうしん", "url": "http://nanbyodata.jp/ontology/NANDO_2100083", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201073", "label_en": "Maturity-onset diabetes of the young type 5", "label_ja": "MODY5", "yomigana": "えむおーでぃーわい5", "url": "http://nanbyodata.jp/ontology/NANDO_2201073", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [ "Abnormal renal morphology | Abnormality of alkaline phosphatase level | Abnormality of endocrine pancreas physiology | Abnormality of exocrine pancreas physiology | Abnormality of the genital system | Abnormality of the kidney | Absent vas deferens | Acute kidney injury | Aplasia/Hypoplasia of the pancreas | Arthritis | Autosomal dominant inheritance | Bicornuate uterus | Biliary tract abnormality | Cerebral cortical atrophy | Decreased numbers of nephrons | Diabetes mellitus | Elevated circulating creatinine concentration | Elevated circulating hepatic transaminase concentration | Exocrine pancreatic insufficiency | Global developmental delay | Glomerulopathy | Glucose intolerance | Glycosuria | Gout | Hearing impairment | Hepatic steatosis | Horseshoe kidney | Hyperuricemia | Hypoplasia of the uterus | Hypospadias | Hypothyroidism | Intellectual disability | Jaundice | Joint hypermobility | Kidney stone | Mandibular prognathia | Maturity-onset diabetes of the young | Multicystic kidney dysplasia | Multiple glomerular cysts | Pancreatic hypoplasia | Papillary cystadenoma of the epididymis | Polydipsia | Proteinuria | Pyloric stenosis | Reduced sperm motility | Renal Fanconi syndrome | Renal agenesis | Renal cell carcinoma | Renal cyst | Renal hypoplasia | Renal insufficiency | Stage 5 chronic kidney disease | Unilateral renal agenesis | Ureteropelvic junction obstruction | Young adult onset" ], "symptoms_ja_list": [ "アルカリホスファターゼ活性の異常 | ステージ5慢性腎疾患 | ネフロン数減少 | 下顎突出 | 全般性発達遅滞 | 内分泌膵生理の異常 | 双角子宮 | 外分泌性膵不全 | 外分泌膵生理の異常 | 多嚢胞腎異形成 | 多発性糸球体嚢胞 | 多飲 | 大脳皮質萎縮 | 子宮低形成 | 尿管腎盂接合部閉塞 | 尿糖 | 尿道下裂 | 常染色体顕性遺伝 | 幽門狭窄 | 急性腎外傷 | 性器異常 | 片側性腎無発生 | 甲状腺機能低下症 | 知的障害 | 精子運動減少 | 精巣上体乳頭腺腫 | 糖尿病 | 糸球体症 | 耐糖能異常 | 肝トランスアミナーゼ上昇 | 胆管異常 | 脂肪肝 | 腎不全 | 腎低形成 | 腎嚢胞 | 腎形態異常 | 腎性 Fanconi 症候群 | 腎無発生 | 腎異常 | 腎細胞癌 | 腎結石 | 膵低形成 | 膵無形成/低形成 | 若年発症成人型糖尿病 | 蛋白尿 | 血清クレアチン症状 | 輸精管欠損 | 通風 | 関節炎 | 関節過動 | 難聴 | 馬蹄腎 | 高尿酸血症 | 黄疸" ] }, { "id": "NANDO:2200842", "label_en": "Cerebral creatine deficiency syndrome", "label_ja": "脳クレアチン欠乏症候群", "yomigana": "のうくれあちんけつぼうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200842", "notificationNumber": "83", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100226", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200359", "label_en": "Other chronic adrenal insufficiency", "label_ja": "38から41までに掲げるもののほか、慢性副腎皮質機能低下症", "yomigana": "38から41までにかかげるもののほか、まんせいふくじんひしつきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200359", "notificationNumber": "85", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100128", "symptoms_en_list": [ "Abnormal skin pigmentation | Abnormality of the cardiovascular system | Adrenal hypoplasia | Adrenal insufficiency | Apnea | Autosomal recessive inheritance | Cyanosis | Feeding difficulties in infancy | Hyperkalemia | Hypoglycemia | Hyponatremia | Seizure | Vomiting" ], "symptoms_ja_list": [ "チアノーゼ | 低ナトリウム血症 | 低血糖 | 副腎不全 | 副腎低形成 | 嘔吐 | 常染色体潜性遺伝 | 心血管系 | 無呼吸 | 発作 | 皮膚色素の異常 | 食餌摂取障害 in infancy | 高カリウム血症" ] }, { "id": "NANDO:2201044", "label_en": "Coronary aneurysms complicated with Kawasaki disease (typical Kawasaki disease)", "label_ja": "川崎病性冠動脈瘤（定型例川崎病）", "yomigana": "かわさきびょうせいかんどうみゃくりゅう（ていけいれいかわさきびょう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201044", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100068", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200407", "label_en": "Other multiple endocrine neoplasia", "label_ja": "84及び85に掲げるもののほか、多発性内分泌腫瘍", "yomigana": "84および85にかかげるもののほか、たはつせいないぶんぴつしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200407", "notificationNumber": "66", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100148", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200698", "label_en": "Purine nucleoside phosphorylase deficiency", "label_ja": "プリンヌクレオシドホスホリラーゼ欠損症", "yomigana": "ぷりんぬくれおしどほすほりらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200698", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100203", "symptoms_en_list": [ "Abnormal B cell physiology | Abnormal T cell morphology | Abnormal T cell physiology | Abnormal central motor function | Abnormality of the nervous system | Ataxia | Atypical behavior | Autoimmune hemolytic anemia | Autoimmune neutropenia | Autoimmune thrombocytopenia | Autoimmunity | Autosomal recessive inheritance | Cerebral palsy | Cerebral vasculitis | Decreased total T cell count | Decreased total lymphocyte count | Decreased urinary urate | Delayed gross motor development | Failure to thrive | Generalized hypotonia | Global developmental delay | Humoral immunodeficiency | Hyperactivity | Hypertonia | Hypotonia | Hypouricemia | Infantile onset | Intellectual disability | Lymph node hypoplasia | Lymphoma | Motor delay | Neoplasm | Otitis media | Pneumonia | Pure red cell aplasia | Recurrent bacterial infections | Recurrent infections | Recurrent lower respiratory tract infections | Recurrent opportunistic infections | Recurrent respiratory infections | Recurrent upper respiratory tract infections | Recurrent urinary tract infections | Recurrent viral infections | Sensorineural hearing impairment | Severe combined immunodeficiency | Sinusitis | Spastic diplegia | Spastic paraparesis | Spasticity | Splenomegaly | Stroke | Systemic lupus erythematosus | Tetraparesis | Tremor" ], "symptoms_ja_list": [ "B 細胞生理の異常 | T リンパ球減少症 | T 細胞の異常 | T 細胞生理の異常 | リンパ球減少症 | リンパ節低形成 | リンパ腫 | 中枢性運動機能の異常 | 中耳炎 | 低尿酸血症 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性紅斑性狼瘡 | 副鼻腔炎 | 卒中 | 反復性ウイルス感染症 | 反復性上気道感染症 | 反復性下気道感染症 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性感染症 | 反復性日和見感染症 | 反復性細菌感染症 | 四肢不全麻痺 | 多動 | 大脳血管炎 | 尿中尿酸減少 | 常染色体潜性遺伝 | 感音難聴 | 成長障害 (成長不全) | 振戦 | 新生物 | 痙性 | 痙性両麻痺 | 痙性対不全麻痺 | 知的障害 | 神経系の異常 | 筋緊張亢進 | 筋緊張低下 | 粗大運動発達遅延 | 純粋赤血球無形成 | 肺炎 | 脳性麻痺 | 脾腫 | 自己免疫 | 自己免疫性好中球減少症 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 行動異常 | 運動失調 | 運動発達遅滞 | 部分的駅制免疫不全 | 重症複合型免疫不全" ] }, { "id": "NANDO:2200076", "label_en": "Salivary grand carcinoma", "label_ja": "唾液腺癌", "yomigana": "だえきせんがん", "url": "http://nanbyodata.jp/ontology/NANDO_2200076", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200257", "label_en": "Type V Takayasu arteritis", "label_ja": "高安動脈炎（V型）", "yomigana": "たかやすどうみゃくえん（5がた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200257", "notificationNumber": "40", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200127", "label_en": "Epstein syndrome", "label_ja": "エプスタイン症候群", "yomigana": "えぷすたいんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200127", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200581", "label_en": "Occipital horn syndrome", "label_ja": "オクシピタル・ホーン症候群", "yomigana": "おくしぴたる・ほーんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200581", "notificationNumber": "26", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100167", "symptoms_en_list": [ "Abnormal fibula morphology | Abnormal pubic bone morphology | Abnormal skull morphology | Abnormality of the face | Abnormality of the sense of smell | Abnormality of the wrist | Absent tibia | Aplasia/hypoplasia of the humerus | Aplastic clavicle | Atypical scarring of skin | Avascular necrosis of the capital femoral epiphysis | Bladder carcinoma | Bladder diverticulum | Brachydactyly | Broad clavicle | Broad ribs | Bruising susceptibility | Capitate-hamate fusion | Carotid artery tortuosity | Cerebral calcification | Cholestasis | Chronic diarrhea | Coarse hair | Convex nasal ridge | Coxa valga | Coxa vara | Decreased circulating ceruloplasmin concentration | Decreased circulating copper concentration | Delayed cranial suture closure | Down-sloping shoulders | Downslanted palpebral fissures | Dysphagia | Esophagitis | Exostoses | Femoral hernia | Gastroesophageal reflux | Gastroparesis | Genu valgum | Global developmental delay | Growth delay | Hepatitis | Hiatus hernia | High forehead | High palate | High", "narrow palate | Hip dislocation | Hip dysplasia | Humerus varus | Hydronephrosis | Hyperextensible skin | Hypothermia | Hypotonia | Inguinal hernia | Intellectual disability | Jaundice | Joint hypermobility | Keloids | Kyphosis | Large fontanelles | Large iliac wing | Limited elbow extension | Limited knee extension | Long face | Long neck | Long philtrum | Narrow chest | Narrow face | Orthostatic hypotension | Osteolysis | Osteomalacia | Osteopenia | Osteoporosis | Pectus carinatum | Pectus excavatum | Pelvic bone exostoses | Persistent open anterior fontanelle | Pes planus | Pili torti | Platyspondyly | Poor suck | Recurrent urinary tract infections | Redundant skin | Rickets | Scarring | Scoliosis | Seizure | Short clavicles | Short humerus | Short palm | Soft skin | Specific learning disability | Synostosis of joints | Thick hair | Ureteral obstruction | Vascular dilatation | Venous insufficiency | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | くる病 | なで肩 | はと胸 | ケロイド | 上腕骨内反 | 上腕骨無形成/低形成 | 低体温 | 低銅血症 | 側弯 | 全般性発達遅滞 | 内反股 | 凸の鼻梁 | 出血傾向 | 分厚い毛髪 | 動脈瘤 | 反復性尿路感染症 | 吸啜不全 | 嗅覚の異常 | 嚥下障害 | 外反股 | 外反膝 | 外骨症 | 大きな泉門 | 大きな腸骨翼 | 大脳石灰化 | 大腿ヘルニア | 大腿骨骨頭骨端の無血管性壊死 | 尿管閉塞 | 幅広い肋骨 | 幅広い鎖骨 | 後弯 | 恥骨の異常 | 慢性下痢 | 成長遅滞 | 扁平脊椎 | 扁平足 | 手関節の異常 | 持続性に開いた大泉門 | 捻転毛 | 有頭骨有鉤骨癒合 | 柔らかい皮膚 | 水腎症 | 漏斗胸 | 特異的学習障害 | 狭い胸郭 | 狭い顔 | 瘢痕 | 発作 | 眼瞼裂斜下 | 知的障害 | 短い上腕骨 | 短い手掌 | 短い鎖骨 | 短指症候群 | 筋緊張低下 | 粗い毛髪 | 肘伸展制限 | 肝炎 | 股関節異形成 | 股関節脱臼 | 胃不全麻痺 | 胃食道逆流 | 胆汁うっ滞 | 脛骨欠損 | 腓骨の異常 | 膀胱憩室 | 膀胱癌 | 膝伸展制限 | 血清セルロプラスミン減少 | 裂孔ヘルニア | 起立性低血圧 | 過伸展皮膚 | 過剰な皮膚 | 鎖骨無形成 | 長い人中 | 長い頸部 | 長い顔 | 関節過動 | 関節骨癒合症 | 静脈不全 | 非典型的皮膚瘢痕 | 頚動脈蛇行 | 頭蓋骨の異常 | 頭蓋骨縫合閉鎖遅延 | 顔の異常 | 食道炎 | 骨減少症 | 骨盤外骨症 | 骨粗鬆症 | 骨融解 | 骨軟化症 | 高い額 | 高口蓋 | 高狭口蓋 | 黄疸 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200372", "label_en": "Coexisting cervical and lumbar spinal stenosis", "label_ja": "広範脊柱管狭窄症", "yomigana": "こうはんせきちゅうかんきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200372", "notificationNumber": "70", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200275", "label_en": "Double-chambered right ventricle", "label_ja": "右室二腔症", "yomigana": "うしつにくうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200275", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100091", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Autosomal recessive inheritance | Broad hallux | Coarctation of aorta | Complete atrioventricular canal defect | Double outlet right ventricle | Hypertelorism | Postaxial polydactyly | Transposition of the great arteries | Truncus arteriosus" ], "symptoms_ja_list": [ "両大血管右室起始症 | 両眼隔離 | 代謝/ホメオスターシスの異常 | 大動脈縮窄 | 大血管転位 | 完全型房室管欠損 | 常染色体潜性遺伝 | 幅広い母趾 | 総動脈幹 | 軸後性多指趾症" ] }, { "id": "NANDO:2100044", "label_en": "Mobitz type II second degree atrioventricular block", "label_ja": "モビッツ2型ブロック", "yomigana": "もびっつ2がたぶろっく", "url": "http://nanbyodata.jp/ontology/NANDO_2100044", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200802", "label_en": "CR3 deficiency", "label_ja": "CR3欠損症", "yomigana": "しーあーる3けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200802", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200712", "label_en": "Alport's syndrome", "label_ja": "アルポート症候群", "yomigana": "あるぽーとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200712", "notificationNumber": "218", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Abnormal aortic morphology | Abnormal corneal endothelium morphology | Abnormality of the eye | Anterior lenticonus | Aortic aneurysm | Clitoral hypertrophy | Cough | Diffuse leiomyomatosis | Dysphagia | Dyspnea | Focal segmental glomerulosclerosis | Glomerular C3 deposition | Hematuria | Hypertension | IgA deposition in the glomerulus | Macular degeneration | Mesangial hypercellularity | Microscopic hematuria | Nephritis | Nephrotic syndrome | Posterior subcapsular cataract | Proteinuria | Recurrent bronchitis | Recurrent corneal erosions | Renal insufficiency | Renal tubular atrophy | Retinal flecks | Sensorineural hearing impairment | Stage 5 chronic kidney disease | Stridor | Thickened glomerular basement membrane | Thin glomerular basement membrane | Tubulointerstitial fibrosis | Vomiting" ], "symptoms_ja_list": [ "C3 腎症 | IgA 沈着 (糸球体) | びまん性横紋筋腫症 | ステージ5慢性腎疾患 | ネフローゼ症候群 | メサンギウム増殖 | 前部円錐水晶体 | 反復性気管支炎 | 反復性角膜びらん | 呼吸困難 | 喘鳴 | 嘔吐 | 嚥下障害 | 外層 | 大動脈の異常 | 大動脈瘤 | 尿細管萎縮 | 尿細管間質 線維症 | 巣状分節性糸球体硬化症 | 後嚢下白内障 | 感音難聴 | 眼の異常 | 糸球体基底膜肥厚 | 糸球体基底膜菲薄化 | 網膜色素斑 | 腎不全 | 腎炎 | 蛋白尿 | 血尿 | 角膜内皮の異常 | 陰核肥大 | 顕微血尿 | 高血圧 | 黄斑変性" ] }, { "id": "NANDO:2201066", "label_en": "Chronic infantile neurological cutaneous articular syndrome", "label_ja": "慢性乳児神経皮膚関節症候群", "yomigana": "まんせいにゅうじしんけいひふかんせつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201066", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abnormal granulocyte morphology | Abnormal joint morphology | Abnormality of neutrophils | Abnormality of thrombocytes | Anemia | Arthralgia | Arthritis | Autosomal dominant inheritance | Blindness | Brachydactyly | Childhood onset | Delayed closure of the anterior fontanelle | EEG abnormality | Edema | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Fatigue | Fever | Frontal bossing | Global developmental delay | Growth delay | Hearing impairment | Hepatomegaly | Hepatosplenomegaly | Increased intracranial pressure | Increased total eosinophil count | Increased total leukocyte count | Infantile onset | Inflammatory abnormality of the eye | Intellectual disability | Joint dislocation | Lymphadenopathy | Lymphedema | Macrocephaly | Meningitis | Migraine | Myalgia | Nausea and vomiting | Neonatal onset | Papilledema | Papule | Premature birth | Progressive sensorineural hearing impairment | Proptosis | Pseudopapilledema | Purpura | Recurrent fever | Reduced bone mineral density | Retrobulbar optic neuritis | Seizure | Sensorineural hearing impairment | Skeletal dysplasia | Skin rash | Splenomegaly | Urticaria | Uveitis | Visual impairment" ], "symptoms_ja_list": [ "CRP 上昇 | ブドウ膜炎 | リンパ性浮腫 | リンパ節腫大 | 丘疹 | 乳頭浮腫 | 偏頭痛 | 偽乳頭浮腫 | 全般性発達遅滞 | 前頭突出", "額突出 | 吐気と 嘔吐 | 大泉門閉鎖遅延 | 大頭 | 好中球の異常 | 好酸球増多症 | 常染色体顕性遺伝 | 感音難聴 | 成長遅滞 | 早産 | 浮腫 | 疲労 | 発作 | 発熱 | 発熱エピソード | 白血球増多症 | 皮膚発疹 | 盲 | 眼の炎症性異常 | 眼球後部視神経炎 | 眼球突出 | 知的障害 | 短指症候群 | 筋痛 | 紫斑 | 肝脾腫 | 肝腫 | 脳波異常 | 脾腫 | 蕁麻疹 | 血小板の異常 | 視力障害 | 貧血 | 赤沈値上昇 | 進行性感音難聴 | 関節形態異常 | 関節炎 | 関節痛 | 関節脱臼 | 難聴 | 頭蓋内圧の増加 | 顆粒球の異常 | 骨ミネラル濃度減少 | 骨格異形成 | 髄膜炎" ] }, { "id": "NANDO:2200530", "label_en": "Other mitochondrial diseases", "label_ja": "50から57までに掲げるもののほか、ミトコンドリア病", "yomigana": "50から57までにかかげるもののほか、みとこんどりあびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200530", "notificationNumber": "93", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100122", "label_en": "Adenomatous goiter", "label_ja": "腺腫様甲状腺腫", "yomigana": "せんしゅようこうじょうせんしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2100122", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200437", "label_en": "Pyogenic arthritis, pyoderma gangrenosum, acne syndrome", "label_ja": "化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群", "yomigana": "かのうせいむきんせいかんせつえん・えそせいのうひしょう・あくねしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200437", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Acne | Allergy | Arthralgia | Arthritis | Autosomal dominant inheritance | Cellulitis | Colitis | Crohn's disease | Elbow flexion contracture | Elevated circulating C-reactive protein concentration | Fatigue | Fever | Hepatosplenomegaly | Increased circulating immunoglobulin concentration | Increased inflammatory response | Knee flexion contracture | Limitation of joint mobility | Lymphadenopathy | Microcytic anemia | Myositis | Pancytopenia | Proteinuria | Pustule | Skin ulcer | Thrombocytosis | Type I diabetes mellitus" ], "symptoms_ja_list": [ "?瘡 | CRP 上昇 | Crohn 病 | I 型糖尿病 | アレルギー | リンパ節腫大 | 小球性貧血 | 常染色体顕性遺伝 | 汎血球減少症 | 炎症反応増加 | 疲労 | 発熱 | 皮膚潰瘍 | 筋炎 | 結腸炎 | 肘屈曲拘縮 | 肝脾腫 | 膝屈曲拘縮 | 膿疱 | 蛋白尿 | 蜂巣織炎 | 血小板増多症 | 関節炎 | 関節痛 | 関節運動制限 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2201227", "label_en": "Neonatal multiple sulfatase deficiency", "label_ja": "新生児型マルチプルスルファターゼ欠損症", "yomigana": "しんせいじがたまるちぷるするふぁたーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201227", "notificationNumber": "127", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal periventricular white matter morphology | Abnormal retinal pigmentation | Abnormality of peripheral nerve conduction | Anteverted nares | Ataxia | Autosomal recessive inheritance | Broad hallux | Broad hallux phalanx | Broad thumb | CNS demyelination | Cataract | Cerebellar atrophy | Cerebral atrophy | Coarse facial features | Coarse hair | Corneal opacity | Depressed nasal bridge | Developmental regression | Dysostosis multiplex | Flat face | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrocephalus | Hypoplastic vertebral bodies | Ichthyosis | Increased CSF protein concentration | Intellectual disability | Joint stiffness | Large forehead | Lower limb hyperreflexia | Macrocephaly | Microcephaly | Mucopolysacchariduria | Neonatal hypotonia | Optic atrophy | Periorbital edema | Peripheral demyelination | Prominent forehead | Rapid neurologic deterioration | Retinal degeneration | Seizure | Sensorineural hearing impairment | Short stature | Smooth philtrum | Spasticity | Splenomegaly | Thick eyebrow | Ventriculomegaly | Visual impairment" ], "symptoms_ja_list": [ "ムコ多糖症 | 上向きの鼻孔 | 下肢反射亢進 | 中枢神経脱髄 | 低身長 | 全般性発達遅滞 | 分厚い眉毛 | 多発性異骨症 | 大きな額 | 大脳萎縮 | 大頭 | 小脳萎縮 | 小頭 | 常染色体潜性遺伝 | 幅広い母指 | 幅広い母趾 | 幅広い母趾趾骨 | 平坦な人中 | 平坦な顔 | 急速神経学的悪化 | 感音難聴 | 新生児筋緊張低下 | 末梢神経伝導の異常 | 末梢神経脱髄 | 椎体骨低形成 | 水頭症 | 痙性 | 発作 | 発達退行 | 白内障 | 目立つ額 | 眼窩周囲浮腫 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 網膜変性 | 網膜色素異常 | 肝腫 | 脳室周囲白質の異常 | 脳室拡大 | 脾腫 | 落ちくぼんだ鼻梁 | 視力障害 | 視神経萎縮 | 角膜混濁 | 運動失調 | 関節拘縮 | 難聴 | 髄液タンパクの増加 | 魚鱗癬" ] }, { "id": "NANDO:2201039", "label_en": "obsolete Bronchial stenosis", "label_ja": "obsolete 気管支狭窄症", "yomigana": "きかんしきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201039", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200135", "label_en": "Schindler disease type I", "label_ja": "シンドラー病I型", "yomigana": "しんどらーびょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200135", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal brainstem morphology | Abnormal pyramidal sign | Abnormality of extrapyramidal motor function | Aplasia/Hypoplasia of the cerebellum | Autism | Autosomal recessive inheritance | Cerebral visual impairment | Developmental regression | Generalized amyotrophy | Generalized hypotonia | Global developmental delay | Hearing impairment | Hemiplegia/hemiparesis | Hepatomegaly | Hyperkeratosis | Hyperreflexia | Hypertrophic cardiomyopathy | Hypotonia | Increased urinary O-linked sialopeptides | Infantile onset | Lymphedema | Muscle weakness | Myoclonus | Nystagmus | Optic atrophy | Osteopenia | Paresthesia | Peripheral neuropathy | Seizure | Sensory neuropathy | Severe intellectual disability | Spasticity | Strabismus | Telangiectasia | Telangiectasia of the skin | Vertigo" ], "symptoms_ja_list": [ "ミオクローヌス | リンパ性浮腫 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性筋萎縮 | 反射亢進 | 小脳無形成/低形成 | 尿中 O-linked sialopeptides 増加 | 常染色体潜性遺伝 | 感覚ニューロパチー | 感覚異常 | 斜視 | 末梢神経ニューロパチー | 毛細血管拡張 | 片麻痺/片側不全麻痺 | 痙性 | 発作 | 発達退行 | 皮膚毛細血管拡張 | 皮質性視力障害 | 眩暈 | 眼振 | 知的障害", "重度 | 筋緊張低下 | 筋虚弱 | 肝腫 | 肥大型心筋症 | 脳幹形態の異常 | 自閉症 | 視神経萎縮 | 過角化症 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 難聴 | 骨減少症" ] }, { "id": "NANDO:2100079", "label_en": "Congenitally corrected transposition of the great arteries", "label_ja": "先天性修正大血管転位症", "yomigana": "せんてんせいしゅうせいだいけっかんてんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100079", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200534", "label_en": "Neurodegeneration with brain iron accumulation type 1", "label_ja": "NBIA1", "yomigana": "えぬびーあいえー1", "url": "http://nanbyodata.jp/ontology/NANDO_1200534", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abetalipoproteinemia | Abnormal pyramidal sign | Abnormal speech pattern | Abnormality of extrapyramidal motor function | Abnormality of eye movement | Acanthocytosis | Akinesia | Ataxia | Attention deficit hyperactivity disorder | Atypical behavior | Autosomal recessive inheritance | Babinski sign | Blepharospasm | Blindness | Bradykinesia | Bulbar signs | Bull's eye maculopathy | Cerebral cortical atrophy | Cerebral degeneration | Childhood onset | Chorea | Choreoathetosis | Compulsive behaviors | Craniofacial dystonia | Decreased muscle mass | Dementia | Depression | Dysarthria | Dysphagia | Dysphonia | Dystonia | Elevated circulating alkaline phosphatase concentration | Elevated circulating creatine kinase activity | Emotional lability | Eye of the tiger anomaly of globus pallidus | Eyelid apraxia | Facial grimacing | Feeding difficulties in infancy | Gait disturbance | Global brain atrophy | Global developmental delay | Hyperactivity | Hyperpigmentation of the skin | Hyperreflexia | Impaired convergence | Impulsivity | Incoordination | Infantile onset | Intellectual disability | Intention tremor | Iron accumulation in substantia nigra | Juvenile onset | Limb dystonia | Limb pain | Loss of ambulation | Mental deterioration | Motor delay | Motor tics | Myopathy | Neurodegeneration | Nyctalopia | Obsessive-compulsive trait | Optic atrophy | Orofacial dyskinesia | Osteopenia | Pallidal degeneration | Parkinsonism | Peripheral visual field loss | Phonic tics | Pigmentary retinopathy | Psychotic mentation | Rapidly progressive | Recurrent long bone fractures | Retinal degeneration | Retinal flecks | Rigidity | Rod-cone dystrophy | Saccadic smooth pursuit interruptions | Seizure | Slurred speech | Spasticity | Speech articulation difficulties | Tics | Toe extensor amyotrophy | Tremor | Urinary incontinence | Visual field defect | Visual impairment | Young adult onset" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | うつ | しかめ顔 | アルカリホスファターゼ上昇 | サッカード性滑らかな追視 | ジストニア | チック | パーキンソン症候群 | ミオパチー | 不明瞭言語 | 企図振戦 | 全般性発達遅滞 | 全般性脳萎縮 | 協調運動障害 | 反射亢進 | 口顔面ジスキネジア | 嚥下障害 | 四肢ジストニア | 四肢痛 | 多動 | 夜盲症 | 大脳変性 | 大脳皮質萎縮 | 常染色体潜性遺伝 | 強迫性形質 | 強迫性行動 | 情動不安定 | 振戦 | 有棘赤血球増加 | 末梢視野喪失 | 構音障害 | 歩行障害 | 注意力欠陥多動性疾患 | 淡蒼球の虎の眼奇形 | 淡蒼球変性 | 無βリポ蛋白血症 | 無動症 | 牛眼黄斑症 | 球症状 | 痙性 | 発作 | 発語調音困難 | 発音障害 | 皮膚高色素 | 盲 | 眼瞼スパスム | 眼瞼失行 | 眼運動の異常 | 知的障害 | 知能悪化 | 硬直 | 神経変性 | 神経学的発語障害 | 筋量減少 | 精神病的精神機能 | 網膜変性 | 網膜色素斑 | 舞踏病 | 舞踏病アテトーゼ | 色素性網膜炎 | 色素性網膜症 | 血清 creatine phosphokinase上昇 | 行動異常 | 衝動性 | 視力障害 | 視神経萎縮 | 視野障害 | 趾伸展筋萎縮 | 輻輳障害 | 進行性歩行不安定 | 運動失調 | 運動性チック | 運動発達遅滞 | 運動緩徐 | 遺尿 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 長管骨骨折 | 音性チック tics | 頭蓋顔面ジストニア | 食餌摂取障害 in infancy | 骨減少症 | 黒質内鉄沈着" ] }, { "id": "NANDO:2201154", "label_en": "Glycogen storage disease type 1b", "label_ja": "糖原病Ib型", "yomigana": "とうげんびょう1びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201154", "notificationNumber": "63", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormal bleeding | Abnormal circulating enzyme concentration or activity | Abnormal myeloid leukocyte morphology | Abnormality of von Willebrand factor | Absence of bactericidal oxidative respiratory burst in phagocytes | Anemia | Autosomal recessive inheritance | Bruising susceptibility | Carious teeth | Chronic pancreatitis | Cognitive impairment | Decreased circulating vitamin D concentration | Decreased glomerular filtration rate | Decreased total neutrophil count | Delayed eruption of permanent teeth | Delayed puberty | Diarrhea | Doll-like facies | Elevated circulating hepatic transaminase concentration | Enlarged kidney | Enterocolitis | Epistaxis | Failure to thrive | Focal segmental glomerulosclerosis | Full cheeks | Gingivitis | Global developmental delay | Gout | Growth delay | Hematuria | Hepatic steatosis | Hepatoblastoma | Hepatocellular adenoma | Hepatocellular carcinoma | Hepatomegaly | Hypercholesterolemia | Hyperlipidemia | Hypertension | Hypertriglyceridemia | Hyperuricemia | Hypoglycemia | Hypoglycemic seizures | Hypothyroidism | Increased hepatic glycogen content | Increased susceptibility to fractures | Infantile onset | Inflammation of the large intestine | Irregular menstruation | Ketosis | Kidney stone | Lactic acidosis | Lipemia retinalis | Menorrhagia | Metabolic acidosis | Motor delay | Neonatal onset | Nephrocalcinosis | Oral ulcer | Osteopenia | Osteoporosis | Pancreatic fibrosis | Pancreatitis | Periodontitis | Polycystic ovaries | Prolonged bleeding following procedure | Proteinuria | Protuberant abdomen | Pulmonary arterial hypertension | Recurrent bacterial infections | Recurrent upper respiratory tract infections | Renal insufficiency | Round face | Short stature | Spider hemangioma | Splenomegaly | Stage 5 chronic kidney disease | Stomatitis | Thyroiditis | Tubulointerstitial fibrosis | Ulcerative colitis | Xanthelasma | Xanthomatosis" ], "symptoms_ja_list": [ "von Willebrand 因子の異常 | くも状血管腫 | ケトン症 | ステージ5慢性腎疾患 | ビタミンD欠乏症 | 下痢 | 丸い顔 | 乳酸性アシドーシス | 人形様顔貌 | 代謝性アシドーシス | 低血糖 | 低血糖性発作 | 低身長 | 全般性発達遅滞 | 処置に続く遷延性出 | 出血傾向 | 反復性上気道感染症 | 反復性細菌感染症 | 口内炎 | 口腔潰瘍 | 多嚢胞性卵巣 | 大きな頬 | 大腸の炎症 | 好中球減少症 | 小腸結腸炎 | 尿細管間質 線維症 | 巣状分節性糸球体硬化症 | 常染色体潜性遺伝 | 思春期遅発 | 慢性膵炎 | 成長遅滞 | 成長障害 (成長不全) | 易骨折性の増加 | 月経不純 | 月経痛 | 歯周炎 | 歯肉炎 | 永久歯萠出遅延 | 潰瘍性大腸炎 | 甲状腺機能低下症 | 甲状腺炎 | 異常な出血 | 糸球体濾過率減少 | 網膜脂肪血症 | 肝グリコーゲン量増加 | 肝トランスアミナーゼ上昇 | 肝細胞癌 | 肝細胞腺腫 | 肝腫 | 肝芽腫 | 肺高血圧 | 脂肪肝 | 脾腫 | 腎不全 | 腎拡大 | 腎石灰化症 | 腎結石 | 腹部突出 | 膵炎 | 膵線維症 | 蛋白尿 | 血尿 | 認知障害 | 貧血 | 貪食細胞での殺菌的酸化 '呼吸バースト' の欠損 | 通風 | 運動発達遅滞 | 骨減少症 | 骨粗鬆症 | 骨髄球系白血球の異常 | 高コレステロール血症 | 高トリグリセリド血症 | 高尿酸血症 | 高度/補酵素活性異常 | 高脂血症 | 高血圧 | 黄色板症 | 黄色腫症 | 鼻出血 | 齲歯" ] }, { "id": "NANDO:2200034", "label_en": "Follicular dendritic cell sarcoma", "label_ja": "濾胞樹状細胞肉腫", "yomigana": "ろほうじゅじょうさいぼうにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200034", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200082", "label_en": "Saposin B deficiency", "label_ja": "サポシンB欠損症", "yomigana": "さぽしんびーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200082", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal periventricular white matter morphology | Autosomal recessive inheritance | Babinski sign | CNS demyelination | Childhood onset | Decreased nerve conduction velocity | Developmental regression | Dysarthria | Dysphagia | Gait ataxia | Global developmental delay | Hyperreflexia | Hyporeflexia | Hypotonia | Increased CSF protein concentration | Loss of ambulation | Loss of speech | Mental deterioration | Motor deterioration | Muscle weakness | Peripheral demyelination | Peripheral neuropathy | Polyneuropathy | Seizure | Spastic tetraparesis | Urinary incontinence" ], "symptoms_ja_list": [ "Babinski サイン | ポリニューロパチー | 中枢神経脱髄 | 全般性発達遅滞 | 反射亢進 | 反射低下 | 嚥下障害 | 常染色体潜性遺伝 | 末梢神経ニューロパチー | 末梢神経脱髄 | 構音障害 | 歩行失調 | 痙性四肢不全麻痺 | 発作 | 発語喪失 | 発達退行 | 知能悪化 | 神経活動電位の振幅減少 | 筋緊張低下 | 筋虚弱 | 脳室周囲白質の異常 | 進行性歩行不安定 | 運動発達悪化 | 遺尿 | 髄液タンパクの増加" ] }, { "id": "NANDO:2100182", "label_en": "Paroxysmal nocturnal haemoglobinuria", "label_ja": "発作性夜間ヘモグロビン尿症", "yomigana": "ほっさせいやかんへもぐろびんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100182", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200677", "label_en": "Cockayne syndrome", "label_ja": "コケイン症候群", "yomigana": "こけいんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200677", "notificationNumber": "192", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cornea morphology | Abnormal dental morphology | Abnormal electroretinogram | Abnormal epiphysis morphology | Abnormal eye morphology | Abnormal number of teeth | Abnormal renal physiology | Abnormal retinal pigmentation | Absence of pubertal development | Absent speech | Action tremor | Agenesis of permanent teeth | Alacrima | Anhidrosis | Areflexia | Ataxia | Atherosclerosis | Atypical behavior | Axial hypotonia | Band keratopathy | Basal ganglia calcification | Cachexia | Carious teeth | Cataract | Cerebellar atrophy | Cerebellar dentate nucleus calcification | Cerebral atrophy | Cerebral calcification | Cerebral dysmyelination | Cognitive impairment | Congenital contracture | Contractures of the large joints | Convex nasal ridge | Corneal ulceration | Cryptorchidism | Cutaneous photosensitivity | Decreased lacrimation | Decreased nerve conduction velocity | Deeply set eye | Delayed eruption of primary teeth | Delayed puberty | Demyelinating peripheral neuropathy | Dental malocclusion | Developmental cataract | Developmental regression | Diabetes mellitus | Dry hair | Elevated circulating hepatic transaminase concentration | Enamel hypoplasia | Feeding difficulties in infancy | Fine hair | Focal retinal arteriolar constriction | Gait disturbance | Gastroesophageal reflux | Gastrostomy tube feeding in infancy | Gliosis | Global developmental delay | Growth delay | Hepatomegaly | High-frequency sensorineural hearing impairment | Hypermetropia | Hyperreflexia | Hypertension | Hypertonia | Hyperuricemia | Hyporeflexia | Inability to walk | Intellectual disability | Intention tremor | Keratoconjunctivitis sicca | Kyphosis | Lentiglobus | Limb hypertonia | Mental deterioration | Microphthalmia | Miosis | Nephrotic syndrome | Neurogenic bladder | Nystagmus | Optic atrophy | Optic disc pallor | Patchy demyelination of subcortical white matter | Peripheral axonal neuropathy | Peripheral neuropathy | Photophobia | Pigmentary retinopathy | Postnatal growth retardation | Premature skin wrinkling | Primary microcephaly | Progressive gait ataxia | Progressive microcephaly | Progressive sensorineural hearing impairment | Progressive visual loss | Proteinuria | Reduced subcutaneous adipose tissue | Renal hypoplasia | Renal insufficiency | Retinal atrophy | Retinal degeneration | Retinal dystrophy | Retinal hemorrhage | Scoliosis | Seizure | Sensorimotor neuropathy | Severe short stature | Skeletal muscle atrophy | Somatic sensory dysfunction | Spasticity | Splenomegaly | Strabismus | Subcortical white matter calcifications | Thickened calvaria | Unilateral renal agenesis | Urinary incontinence | Vascular calcification | Weak cry" ], "symptoms_ja_list": [ "ネフローゼ症候群 | 不正咬合 | 乳児期の胃瘻管栄養 | 乳歯萠出遅延 | 乾いた毛髪 | 乾燥性 | 企図振戦 | 体幹の筋緊張低下 | 作動振戦 | 停留精巣 | 側弯 | 先天性小頭 | 先天性白内障 | 先天性関節拘縮 | 全般性発達遅滞 | 凸の鼻梁 | 分厚い頭蓋冠 | 動脈硬化症 | 反射亢進 | 反射低下 | 四肢筋緊張亢進 | 基底核石灰化 | 大脳石灰化 | 大脳萎縮 | 大脳髄鞘形成異常症 | 大関節拘縮 | 小眼球 | 小脳歯状核の濃い石灰化 | 小脳萎縮 | 帯状角膜症 | 弱い泣き声 | 後弯 | 思春期発達欠損 | 思春期遅発 | 悪液質 (カヘキシー) | 感覚運動ニューロパチー | 感覚障害 | 成長遅滞 | 斜視 | 早発性皮膚皺 | 末梢神経ニューロパチー | 末梢神経軸索ニューロパチー | 歩行不能 | 歩行障害 | 歯エナメル質低形成 | 歯形態異常 | 永久歯無発生 | 流涙減少 | 無反射 | 無汗症 | 無涙症 | 片側性腎無発生 | 球形円錐水晶体 | 生後の成長遅滞 | 異常な歯の数 | 痙性 | 発作 | 発語欠損 | 発達退行 | 白内障 | 皮下脂肪組織減少 | 皮膚光線過敏症 | 皮質下白質 石灰化 | 皮質下白質斑状脱髄 | 眼形態の異常 | 眼振 | 知的障害 | 知能悪化 | 神経因性膀胱 | 神経活動電位の振幅減少 | 神経膠症 | 筋緊張亢進 | 筋萎縮 | 糖尿病 | 細い毛髪 | 網膜ジストロフィー | 網膜出血 | 網膜変性 | 網膜小動脈狭窄 | 網膜色素異常 | 網膜萎縮 | 網膜電図異常 | 縮瞳 | 羞明 | 肝トランスアミナーゼ上昇 | 肝腫 | 胃食道逆流 | 脱髄性末梢運動神経ニューロパチー | 脾腫 | 腎不全 | 腎低形成 | 腎生理異常 | 色素性網膜症 | 落ちくぼんだ眼 | 蛋白尿 | 血管石灰化 | 行動異常 | 視神経杯蒼白 | 視神経萎縮 | 角膜の異常 | 角膜潰瘍 | 認知障害 | 進行性小頭 | 進行性感音難聴 | 進行性歩行失調 | 進行性視力喪失 | 運動失調 | 遠視 | 遺尿 | 重度の低身長 | 食餌摂取障害 in infancy | 骨端の異常 | 高尿酸血症 | 高血圧 | 高音感音難聴 | 齲歯" ] }, { "id": "NANDO:2200282", "label_en": "Unilateral absence of a pulmonary artery", "label_ja": "一側肺動脈欠損", "yomigana": "いっそくはいどうみゃくけっそん", "url": "http://nanbyodata.jp/ontology/NANDO_2200282", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100097", "symptoms_en_list": [ "Abnormal EKG | Abnormal cardiac septum morphology | Abnormal coronary artery morphology | Abnormal heart morphology | Atrial fibrillation | Atrial flutter | Atrial septal defect | Bronchiectasis | Cardiomegaly | Chest pain | Coarctation of aorta | Congestive heart failure | Cyanosis | Dyspnea | Exercise intolerance | Growth delay | Hemoptysis | Hypocapnia | Orthopnea | Patent ductus arteriosus | Patent foramen ovale | Pedal edema | Pulmonary arterial hypertension | Pulmonary edema | Pulmonary hypoplasia | Recurrent pneumonia | Recurrent respiratory infections | Reduced left ventricular ejection fraction | Right aortic arch | Tachycardia | Tetralogy of Fallot | Truncus arteriosus" ], "symptoms_ja_list": [ "Fallot 四徴症 | うっ血性心不全 | チアノーゼ | 低二酸化炭素症 | 共通 | 冠動脈の異常 | 動脈管開存症 | 卵円孔開存 | 反復性呼吸器感染症 | 反復性肺炎 | 右大動脈弓 | 呼吸困難 | 喀血 | 大動脈縮窄 | 心中隔 | 心形態の異常 | 心房中隔欠損 | 心房粗動 | 心房細動 | 心拡大 | 心電図異常 | 成長遅滞 | 気管支拡張 | 浮腫 (下肢) | 総動脈幹 | 肺低形成 | 肺浮腫 | 肺高血圧 | 起坐呼吸 | 運動不耐症 | 頻拍 | 駆出分画減少" ] }, { "id": "NANDO:1201126", "label_en": "Hereditary apolipoprotein C-III amyloidosis", "label_ja": "遺伝性アポリポ蛋白 C-III アミロイドーシス", "yomigana": "いでんせいあぽりぽたんぱくしー3あみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201126", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200634", "label_en": "Xerocytosis with high phosphatidylcholine hemolytic anemia", "label_ja": "遺伝性高赤血球膜ホスファチジルコリン溶血性貧血", "yomigana": "いでんせいこうせっけっきゅうまくほすふぁちじるこりんようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200634", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [ "Autosomal dominant inheritance | Hyperbilirubinemia | Intermittent jaundice | Reticulocytosis | Splenomegaly" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 網状赤血球増多症 | 脾腫 | 間歇的黄疸 | 高ビリルビン血症" ] }, { "id": "NANDO:2201298", "label_en": "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease", "label_ja": "脱髄型末梢神経障害、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病", "yomigana": "だつずいがたまっしょうしんけいしょうがい、ちゅうすうせいずいしょうけいせいふぜんしょう、わーでんばーぐしょうこうぐん、ひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201298", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Abdominal pain | Abnormal autonomic nervous system physiology | Abnormal eyebrow morphology | Abnormal pyramidal sign | Absent brainstem auditory responses | Aganglionic megacolon | Alacrima | Anosmia | Areflexia | Arrhythmia | Arthrogryposis multiplex congenita | Ataxia | Autosomal dominant inheritance | Blue irides | Cerebral atrophy | Cerebral dysmyelination | Coma | Constipation | Cryptorchidism | Decreased fetal movement | Decreased lacrimation | Decreased nerve conduction velocity | Demyelinating peripheral neuropathy | Distal amyotrophy | Distal muscle weakness | Distal sensory impairment | Dysmyelinating leukodystrophy | Fetal onset | Global developmental delay | Growth delay | Hearing impairment | Hepatomegaly | Hepatosplenomegaly | Heterochromia iridis | Hypogonadism | Hypohidrosis | Hypopigmentation of hair | Hypopigmented skin patches | Hypoplasia of the semicircular canal | Hyporeflexia | Hypotonia | Ileus | Intellectual disability | Long-segment aganglionic megacolon | Microcolon | Myelin outfoldings | Myoclonus | Myopia | Neonatal hypotonia | Neonatal onset | Nystagmus | Peripheral demyelination | Peripheral hypomyelination | Peripheral neuropathy | Pes cavus | Portal hypertension | Premature graying of hair | Prominent nasal bridge | Seizure | Sensorineural hearing impairment | Short-segment aganglionic megacolon | Spastic paraparesis | Spastic tetraplegia | Spasticity | Splenomegaly | Synophrys | Telecanthus | Torticollis | Tremor | Underdeveloped nasal alae | White eyebrow | White eyelashes | White forelock | Wide nasal bridge" ], "symptoms_ja_list": [ "イレウス | ミオクローヌス | 三半規管低形成 | 不整脈 | 低色素性皮膚斑 | 便秘 | 停留精巣 | 先天性多発性関節拘縮 | 全般性発達遅滞 | 内眼角外方偏位 | 凹足 | 前頭部白髪 | 反射低下 | 大脳萎縮 | 大脳髄鞘形成異常症 | 小結腸 | 常染色体顕性遺伝 | 幅広い鼻梁 | 性腺機能低下症 | 感音難聴 | 成長遅滞 | 振戦 | 斜頚 | 新生児筋緊張低下 | 早発性毛髪白髪 | 昏睡 | 末梢神経ニューロパチー | 末梢神経脱髄 | 末梢神経髄鞘低形成 | 毛髪低色素 | 流涙減少 | 減汗症 | 無反射 | 無嗅覚 | 無涙症 | 無神経節性巨大結腸 | 異常な自律神経生理 | 痙性 | 痙性四肢麻痺 | 痙性対不全麻痺 | 発作 | 白い眉毛 | 白い睫毛 | 目立つ鼻梁 | 眉毛の異常 | 眼振 | 知的障害 | 短節性無神経節性巨大結腸 | 神経活動電位の振幅減少 | 筋緊張低下 | 肝脾腫 | 肝腫 | 胎動減少 | 脱髄性ロイコジストロフィー | 脱髄性末梢運動神経ニューロパチー | 脳幹聴覚反応欠損 | 脾腫 | 腹痛 | 虹彩異色症 | 近視 | 連続眉毛 | 運動失調 | 遠位感覚障害 | 遠位筋萎縮 | 遠位筋虚弱 | 錐体路運動機能の異常 | 長節無神経節性巨大結腸 | 門脈圧亢進 | 難聴 | 青色虹彩 | 髄鞘の外方折畳み | 鼻翼未発達" ] }, { "id": "NANDO:2200402", "label_en": "Vitamin D-resistant osteomalacia", "label_ja": "ビタミンD抵抗性骨軟化症", "yomigana": "びたみんでぃーていこうせいこつなんかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200402", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100145", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200621", "label_en": "Keratitis-ichthyosis-deafness syndrome", "label_ja": "KID症候群", "yomigana": "けーあいでぃーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200621", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal facial shape | Abnormality of the dentition | Aplastic/hypoplastic lacrimal glands | Arthritis | Cerebellar vermis hypoplasia | Congenital ichthyosiform erythroderma | Conjunctivitis | Corneal erosion | Corneal neovascularization | Coxa valga | Dandy-Walker malformation | Delayed pubic bone ossification | Equinus calcaneus | Failure to thrive | Follicular hyperkeratosis | Gingivitis | Hypohidrosis | Keratitis | Keratoconjunctivitis sicca | Knee flexion contracture | Nail dystrophy | Neoplasm of the skin | Neoplasm of the tongue | Neurodevelopmental delay | Onychogryphosis | Palmoplantar keratoderma | Patellar hypoplasia | Peripheral neuropathy | Photophobia | Postnatal growth retardation | Prelingual sensorineural hearing impairment | Progeroid facial appearance | Prominent forehead | Psoriasiform dermatitis | Punctate keratitis | Recurrent Candida infection | Recurrent bacterial skin infections | Recurrent cutaneous abscess formation | Recurrent cutaneous fungal infections | Recurrent skin infections | Scarring alopecia of scalp | Sepsis | Severe sensorineural hearing impairment | Skin nodule | Skin plaque | Sparse eyelashes | Sparse hair | Squamous cell carcinoma | Trichilemmoma | Visual loss" ], "symptoms_ja_list": [ "Dandy-Walker 奇形 | プロゲリア様顔貌 | 乾燥性 | 乾癬 | 先天性魚鱗癬型紅皮症 | 分厚い爪 | 反復性カンジダ感染症 | 反復性皮膚カビ感染症 | 反復性皮膚感染症 | 反復性皮膚膿瘍形成 | 反復性細菌性皮膚感染症 | 基底細胞癌 | 外反股 | 小脳虫部低形成 | 恥骨骨化遅延 | 成長障害 (成長不全) | 掌蹠角皮症 | 敗血症 | 末梢神経ニューロパチー | 歯の異常 | 歯肉炎 | 毛包過角化症 | 毛根鞘腫 | 涙腺無形成/低形成 | 減汗症 | 点状角膜炎 | 爪ジストロフィー | 生後の成長遅滞 | 異常な顔の形 | 疎な毛髪 | 疎な睫毛 | 発語前感音難聴 | 皮膚局面 | 皮膚新生物 | 皮膚結節 | 目立つ額 | 神経発生遅延 | 結膜炎 | 羞明 | 膝屈曲拘縮 | 膝蓋骨低形成 | 舌新生物 | 視力喪失 | 角膜びらん | 角膜炎 | 角膜血管新生 | 踵骨尖足 | 重度感音難聴 | 関節炎 | 頭皮の瘢痕性禿頭" ] }, { "id": "NANDO:1200539", "label_en": "Neurodegeneration with brain iron accumulation type 3", "label_ja": "脳内鉄沈着神経変性症3型", "yomigana": "のうないてつちんちゃくしんけいへんせいしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200539", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200315", "label_en": "Immune thrombocytopenia", "label_ja": "免疫性血小板減少症", "yomigana": "めんえきせいけっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200315", "notificationNumber": "63", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal bleeding | Arterial thrombosis | Autosomal dominant inheritance | Bruising susceptibility | Cerebral hemorrhage | Epistaxis | Gastrointestinal hemorrhage | Gingival bleeding | Hematuria | Hemorrhage of the eye | Petechiae | Platelet antibody positive | Purpura | Thrombocytopenia" ], "symptoms_ja_list": [ "出血傾向 | 動脈血栓症 | 大脳出血 | 常染色体顕性遺伝 | 歯肉出血 | 点状出血 | 異常な出血 | 眼出血 | 紫斑 | 胃腸出血 | 血小板抗体陽性 | 血小板減少 | 血尿 | 鼻出血" ] }, { "id": "NANDO:2200920", "label_en": "Ulcerative colitis", "label_ja": "潰瘍性大腸炎", "yomigana": "かいようせいだいちょうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200920", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100259", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200961", "label_en": "Smith-lemli-opitz syndrome", "label_ja": "スミス・レムリ・オピッツ症候群", "yomigana": "すみす・れむり・おぴっつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200961", "notificationNumber": "310", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "2-3 toe cutaneous syndactyly | 2-3 toe syndactyly | Abdominal distention | Abnormal cardiovascular system morphology | Abnormal dental enamel morphology | Abnormal dental morphology | Abnormal dermatoglyphics | Abnormal eyelash morphology | Abnormal localization of kidney | Abnormal lung lobation | Abnormal metacarpal morphology | Abnormal rib morphology | Abnormal vertebral body morphology | Abnormality of the gallbladder | Abnormality of the larynx | Advanced eruption of teeth | Aganglionic megacolon | Aggressive behavior | Ambiguous genitalia | Anteverted nares | Aplasia/Hypoplasia affecting the eye | Aplasia/Hypoplasia of the cerebellum | Aplasia/Hypoplasia of the corpus callosum | Aplasia/Hypoplasia of the radius | Arachnoid cyst | Atrial septal defect | Atrioventricular canal defect | Attention deficit hyperactivity disorder | Autism | Autosomal recessive inheritance | Bicornuate uterus | Bifid scrotum | Bifid tongue | Bifid uvula | Biparietal narrowing | Brachydactyly | Breech presentation | Broad alveolar ridges | Cataract | Cerebellar atrophy | Chiari type I malformation | Choanal atresia | Cholestatic liver disease | Cirrhosis | Cleft palate | Clitoral hypertrophy | Coarctation of aorta | Congenital diaphragmatic hernia | Congenital onset | Constipation | Cryptorchidism | Cutaneous photosensitivity | Cutis marmorata | Dandy-Walker malformation | Death in infancy | Decreased fetal movement | Dental crowding | Depressed nasal bridge | Diffuse cerebral atrophy | Downslanted palpebral fissures | Duplicated collecting system | Eczematoid dermatitis | Elevated circulating 7-dehydrocholesterol concentration | Epicanthus | Epiphyseal stippling | Excessive daytime somnolence | Facial capillary hemangioma | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Finger syndactyly | Gastroesophageal reflux | Gastrointestinal dysmotility | Gastroschisis | Generalized hypotonia | Gingival overgrowth | Glaucoma | Global brain atrophy | Global developmental delay | Growth delay | Hammertoe | Hearing impairment | Hepatic steatosis | Hepatomegaly | Hip dislocation | Holoprosencephaly | Hydrocephalus | Hydronephrosis | Hyperactivity | Hypertelorism | Hypertension | Hypertonia | Hypertrophic cardiomyopathy | Hypoalbuminemia | Hypocholesterolemia | Hypopigmentation of hair | Hypoplasia of penis | Hypoplasia of the corpus callosum | Hypoplasia of the frontal lobes | Hypospadias | Hypotonia | Increased nuchal translucency | Intellectual disability | Intestinal malrotation | Intrauterine growth retardation | Iris coloboma | Kyphosis | Long philtrum | Low-set ears | Mesomelia | Metatarsus adductus | Microcephaly | Microglossia | Micrognathia | Micromelia | Micropenis | Microretrognathia | Multicystic kidney dysplasia | Narrow forehead | Nystagmus | Optic atrophy | Overlapping toe | Partial agenesis of the corpus callosum | Patent ductus arteriosus | Penoscrotal hypospadias | Periventricular heterotopia | Polyhydramnios | Poor suck | Postaxial foot polydactyly | Postaxial hand polydactyly | Posteriorly rotated ears | Precocious puberty | Premature birth | Proptosis | Proximal placement of thumb | Ptosis | Pulmonary hypoplasia | Pyloric stenosis | Recurrent infections | Recurrent otitis media | Renal agenesis | Renal cyst | Renal hypoplasia | Renal hypoplasia/aplasia | Rhizomelia | Sacral dimple | Sclerocornea | Scoliosis | Seizure | Self-injurious behavior | Self-mutilation | Sensorineural hearing impairment | Septate vagina | Severe photosensitivity | Short neck | Short stature | Short thumb | Short toe | Sleep disturbance | Sleep-wake cycle disturbance | Small scrotum | Splenomegaly | Split hand | Strabismus | Supernumerary tooth | Talipes calcaneovalgus | Tooth agenesis | Tracheal stenosis | Ulnar deviation of finger | Unilateral renal agenesis | Upslanted palpebral fissure | Ureteropelvic junction obstruction | Ventricular fibrillation | Ventricular septal defect | Ventriculomegaly | Vomiting | Wide intermamillary distance | Wide mouth | Wide nasal bridge" ], "symptoms_ja_list": [ "7-dehydrocholesterol 上昇 | Dandy-Walker 奇形 | I 型Arnold-Chiari 奇形 | くも膜嚢胞 | びまん性大脳萎縮 | コロボーマ | 上向きの鼻孔 | 両眼隔離 | 両頭頂径狭小 | 中手骨形態異常 | 事後性多趾症 | 二分した口蓋垂 | 二分した舌 | 二分陰嚢 | 仙骨部陥凹 | 低コレステロール血症 | 低身長 | 便秘 | 停留精巣 | 側弯 | 先天性横隔膜ヘルニア | 全前脳胞症 | 全般性発達遅滞 | 全般性脳萎縮 | 全身性筋緊張低下 | 内眼角贅皮 | 内転中足骨 | 前頭葉低形成 | 動脈管開存症 | 双角子宮 | 反復性中耳炎 | 反復性感染症 | 口蓋裂 | 合指症 | 吸啜不全 | 喉頭の異常 | 嗜眠 | 嘔吐 | 四肢中部短縮 | 四肢近位短縮 | 外反踵骨 | 多動 | 多嚢胞腎異形成 | 大動脈縮窄 | 大理石皮膚 | 子宮内成長遅滞 | 小肢症 | 小脳無形成/低形成 | 小脳萎縮 | 小舌 | 小陰茎 | 小頭 | 小顎 | 小顎後退 | 尿管腎盂接合部閉塞 | 尿道下裂 | 常染色体潜性遺伝 | 幅広い乳頭間距離 | 幅広い口 | 幅広い歯槽隆起 | 幅広い鼻梁 | 幽門狭窄 | 後弯 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 心室細動 | 心房中隔欠損 | 思春期早発 | 性別不明の外性器 | 感音難聴 | 成長遅滞 | 成長障害 (成長不全) | 房室管欠損 | 指の尺側偏位 | 攻撃的行動 | 斜視 | 早産 | 椎体骨形態異常 | 槌趾 | 橈骨無形成/低形成 | 歯エナメル質異常 | 歯形態異常 | 歯数の減少 number of teeth | 歯数増加 | 歯混雑 | 歯肉過成長 | 歯萠出促進 | 毛髪低色素 | 気管狭窄 | 水腎症 | 水頭症 | 注意力欠陥多動性疾患 | 湿疹 | 無神経節性巨大結腸 | 片側性腎無発生 | 狭い額 | 異常な皮膚紋理 | 発作 | 白内障 | 皮膚光線過敏症 | 眼振 | 眼無形成/低形成 | 眼球突出 | 眼瞼下垂 | 眼瞼裂斜上 | 眼瞼裂斜下 | 睡眠-覚醒周期障害 | 睡眠障害 | 睫毛の異常 | 知的障害 | 短い母指 | 短い趾 | 短い頸部 | 短指症候群 | 第2-3 合趾症 | 第2-3 趾皮膚性合趾症 | 筋緊張亢進 | 筋緊張低下 | 緑内障 | 羊水過多 | 耳介低位 | 耳介後方回転 | 肋骨の異常 | 肝硬変 | 肝腫 | 股関節脱臼 | 肥大型心筋症 | 肺低形成 | 肺分葉の異常 | 胃腸蠕動運動異常 | 胃食道逆流 | 胆嚢の異常 | 胆汁うっ滞性肝疾患 | 胎動減少 | 脂肪肝 | 脳室周囲異所性灰白質 | 脳室拡大 | 脳梁の部分的無発生 | 脳梁低形成 | 脳梁無形成/低形成 | 脾腫 | 腎位置異常 | 腎低形成 | 腎低形成/無形成 | 腎嚢胞 | 腎無発生 | 腸回転異常 | 腹壁破裂 | 腹部膨満 | 膣中隔 | 自傷行動 | 自己切断 | 自閉症 | 落ちくぼんだ鼻梁 | 裂手 | 視神経萎縮 | 角膜硬化 | 趾の重なり | 軸後性多指症 | 近位母指 | 重度の光線過敏症 | 長い人中 | 陰嚢低形成 | 陰核肥大 | 陰茎低形成 | 陰茎陰嚢尿道下裂 | 集合管重複 | 難聴 | 項部透過性増加 | 顔面毛細血管腫 | 食餌摂取障害 | 食餌摂取障害 in infancy | 骨盤位 | 骨端点状石灰化 | 高アルブミン血症 | 高血圧" ] }, { "id": "NANDO:2201084", "label_en": "Presymptomatic N-acetylglutamate synthetase deficiency", "label_ja": "発症前型N-アセチルグルタミン酸合成酵素欠損症", "yomigana": "はっしょうまえがたえぬあせちるぐるたみんさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201084", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Acute hyperammonemia | Aggressive behavior | Agitation | Alkalosis | Anorexia | Anxiety | Ataxia | Atypical behavior | Autosomal recessive inheritance | Cerebral ischemia | Cognitive impairment | Coma | Confusion | Diarrhea | Drowsiness | Echolalia | Emotional lability | Encephalopathy | Failure to thrive | Fatigue | Feeding difficulties | Floppy infant | Global developmental delay | Headache | Hepatomegaly | Hyperalaninemia | Hyperammonemia | Hyperglutaminemia | Hypertonia | Hypothermia | Insomnia | Lethargy | Loss of consciousness | Low plasma citrulline | Microcephaly | Motor stereotypy | Myelodysplasia | Nausea | Neonatal onset | Paraplegia | Polyneuropathy | Poor appetite | Poor speech | Psychotic episodes | Respiratory distress | Reye syndrome-like episodes | Seizure | Stroke | Tachypnea | Vomiting" ], "symptoms_ja_list": [ "Reye 症様エピソード | アルカローシス | ポリニューロパチー | 下痢 | 不全麻痺 | 不安 | 不眠 | 不穏 | 乳児筋性筋緊張低下 | 低体温 | 全般性発達遅滞 | 卒中 | 反響言語 | 吐気 | 呼吸窮迫 | 嘔吐 | 多呼吸 | 大脳虚血 | 小頭 | 常同行動 | 常染色体潜性遺伝 | 急性高アンモニア血症 | 情動不安定 | 意識喪失 | 成長障害 (成長不全) | 攻撃的行動 | 昏睡 | 無気力 | 疲労 | 発作 | 発語不全 | 眠気 | 筋緊張亢進 | 精神病エピソード | 肝腫 | 脳症 | 血症シトルリン低値 | 行動異常 | 認知障害 | 運動失調 | 錯乱 | 頭痛 | 食思不振 | 食餌摂取障害 | 骨髄異形成 | 高アラニン血症 | 高アンモニア血症 | 高グルタミン血症" ] }, { "id": "NANDO:1200458", "label_en": "Chronic idiopathic intestinal pseudo-obstruction", "label_ja": "慢性特発性偽性腸閉塞症", "yomigana": "まんせいとくはつせいぎせいちょうへいそくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200458", "notificationNumber": "99", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abnormal intestine morphology | Abnormal nervous system morphology | Abnormal platelet morphology | Intestinal malrotation | Patent ductus arteriosus | Pyloric stenosis" ], "symptoms_ja_list": [ "動脈管開存症 | 幽門狭窄 | 神経系形態の異常 | 腸の異常 | 腸回転異常 | 血小板形態の異常" ] }, { "id": "NANDO:2200713", "label_en": "Hyper-IgE syndrome", "label_ja": "高IgE症候群", "yomigana": "こうあいじーいーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200713", "notificationNumber": "49", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200076", "label_en": "Juvenile Krabbe disease", "label_ja": "若年型クラッベ病", "yomigana": "じゃくねんがたくらっべびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200076", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200233", "label_en": "Restrictive cardiomyopathy", "label_ja": "拘束型心筋症", "yomigana": "こうそくがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200233", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100058", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200884", "label_en": "Dystonia musculorum deformans", "label_ja": "変形性筋ジストニー", "yomigana": "へんけいせいきんじすとにー", "url": "http://nanbyodata.jp/ontology/NANDO_2200884", "notificationNumber": "101", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100240", "symptoms_en_list": [ "Abnormal posturing | Abnormality of movement | Abnormality of the musculature | Abnormality of the voice | Absent Achilles reflex | Autosomal dominant inheritance | Babinski sign | Blepharospasm | Cerebellar atrophy | Depression | Dysarthria | Dysphagia | Facial palsy | Gait disturbance | Generalized dystonia | Generalized hypotonia | Hyperlordosis | Hyperreflexia | Hypertonia | Hypotonia | Inability to walk | Kyphosis | Middle age onset | Motor delay | Multiple joint contractures | Neonatal onset | Oromandibular dystonia | Scoliosis | Torsion dystonia | Torticollis | Tremor | Typified by incomplete penetrance | Writer's cramp" ], "symptoms_ja_list": [ "Babinski サイン | うつ | アキレス腱反射欠損 | 側弯 | 全身性ジストニア | 全身性筋緊張低下 | 前弯 | 反射亢進 | 口下顎ジストニア | 嚥下障害 | 声の異常 | 多発性関節拘縮 | 小脳萎縮 | 常染色体顕性遺伝 | 後弯 | 振戦 | 捻転ジストニア | 斜頚 | 書痙 | 構音障害 | 歩行不能 | 歩行障害 | 異常な姿勢 | 眼瞼スパスム | 筋の異常 | 筋緊張亢進 | 筋緊張低下 | 運動の異常 | 運動発達遅滞 | 顔面麻痺" ] }, { "id": "NANDO:1200186", "label_en": "Prion disease", "label_ja": "プリオン病", "yomigana": "ぷりおんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200186", "notificationNumber": "23", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201376", "label_en": "Epidermolysis bullosa simplex with muscular dystrophy", "label_ja": "筋ジストロフィー合併型表皮水疱症", "yomigana": "きんじすとろふぃーがっぺいがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201376", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal dental enamel morphology | Alopecia | Anemia | Aphasia | Aplasia/Hypoplasia of the skin | Autosomal recessive inheritance | Carious teeth | Congenital onset | Dermal atrophy | Echolalia | Enamel hypoplasia | Fatigable weakness | Fatigue | Hyperconvex fingernails | Hypoplastic fingernail | Increased connective tissue | Increased variability in muscle fiber diameter | Keratitis | Milia | Motheaten muscle fibers | Muscle fiber splitting | Muscle flaccidity | Muscular dystrophy | Mutism | Myopathy | Nail dysplasia | Nail dystrophy | Neonatal respiratory distress | Oculomotor nerve palsy | Ophthalmoparesis | Ophthalmoplegia | Palmoplantar hyperkeratosis | Papule | Ptosis | Punctate keratitis | Scarring alopecia of scalp | Short stature | Skin vesicle | Urethral stricture" ], "symptoms_ja_list": [ "ミオパチー | 丘疹 | 低身長 | 凸の指爪 | 反響言語 | 失語症 | 尿道胸抱く | 常染色体潜性遺伝 | 指爪低形成 | 掌蹠過角化症 | 新生児呼吸窮迫 | 歯エナメル質低形成 | 歯エナメル質異常 | 点状角膜炎 | 無言症 | 爪ジストロフィー | 爪異形成 | 異常な皮膚水泡 | 疲労 | 疲労性虚弱 | 皮膚小水疱 | 皮膚無形成/低形成 | 皮膚萎縮 | 眼球運動神経麻痺 | 眼瞼下垂 | 眼筋不全麻痺 | 眼筋麻痺 | 禿頭 | 稗粒腫 | 筋ジストロフィー | 筋弛緩 | 筋線維断裂 | 筋線維直径の多様性増加 | 結合織増加 | 虫食い筋線維 | 角膜炎 | 貧血 | 頭皮の瘢痕性禿頭 | 齲歯" ] }, { "id": "NANDO:2201328", "label_en": "Type I cystic biliary atresia", "label_ja": "Icyst型胆道閉鎖症", "yomigana": "1しすとがたたんどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201328", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200215", "label_en": "Bundle branch block", "label_ja": "脚ブロック", "yomigana": "きゃくぶろっく", "url": "http://nanbyodata.jp/ontology/NANDO_2200215", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100046", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200280", "label_en": "Absent pulmonary valve", "label_ja": "肺動脈弁欠損", "yomigana": "はいどうみゃくべんけっそん", "url": "http://nanbyodata.jp/ontology/NANDO_2200280", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100095", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200968", "label_en": "LMX1B-associated nephropathy", "label_ja": "LMX1B関連腎症", "yomigana": "えるえむえっくす1びーかんれんじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200968", "notificationNumber": "315", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100300", "label_en": "DDX3X-related neurodevelopmental disorder", "label_ja": "DDX3X関連神経発達異常症", "yomigana": "でぃーでぃーえっくす3えっくすかんれんしんけいはったついじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100300", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201127", "label_en": "Hereditary lysozyme amyloidosis", "label_ja": "遺伝性リゾチームアミロイドーシス", "yomigana": "いでんせいりぞちーむあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201127", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100278", "label_en": "obsolete Cloacal extrophy", "label_ja": "obsolete 総排泄腔外反症", "yomigana": "そうはいせつくうがいはんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100278", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201493", "label_en": "Non-Chiari syringomyelia associated with craniovertebral junction or spinal bony and cord malformations", "label_ja": "頭蓋頚椎移行部病変や脊椎において骨・脊髄の奇形を伴い、キアリ（Chiari）奇形を欠く脊髄空洞症", "yomigana": "ずがいけいついいこうぶびょうへんやせきついにおいてほね・せきずいのきけいをともない、きありきけい を かく せきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201493", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200034", "label_en": "Multiple system atrophy", "label_ja": "多系統萎縮症", "yomigana": "たけいとういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200034", "notificationNumber": "17", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal brain FDG positron emission tomography | Abnormal pyramidal sign | Abnormal rapid eye movement sleep | Autonomic bladder dysfunction | Autonomic erectile dysfunction | Axial dystonia | Bradykinesia | Camptocormia | Central sleep apnea | Constipation | Dysarthria | Frequent falls | Gait ataxia | Gaze-evoked nystagmus | Orofacial dyskinesia | Orthostatic hypotension due to autonomic dysfunction | Orthostatic syncope | Parkinsonism | Postural instability | Postural tremor | Progressive cerebellar ataxia | Resting tremor | Rigidity | Stridor" ], "symptoms_ja_list": [ "パーキンソン症候群 | 中枢性睡眠時無呼吸 | 便秘 | 前屈症 | 口顔面ジスキネジア | 喘鳴 | 姿勢不安定 | 姿勢性振戦 | 安静時振戦 | 構音障害 | 歩行失調 | 注視誘発性眼振 | 異常な急速眼球運動 (REM) 睡眠 | 異常な脳 FDG ポジトロンCT | 異常な自律神経生理 | 硬直 | 自律神経性勃起機能障害 | 自律神経性機能障害による起立性低血圧 | 自律神経性膀胱機能障害 | 起立性失心 | 軸性ジストニア | 進行性小脳失調 | 運動緩徐 | 錐体路運動機能の異常 | 頻回の転倒" ] }, { "id": "NANDO:2201277", "label_en": "Secondary aplastic anemia", "label_ja": "二次性再生不良性貧血", "yomigana": "にじせいさいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2201277", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100201", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201038", "label_en": "Homocystinuria", "label_ja": "ホモシスチン尿症", "yomigana": "ほもしすちんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201038", "notificationNumber": "337", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201141", "label_en": "Infant-onset very-long-chain acyl-CoA dehydrogenase deficiency", "label_ja": "乳児期発症型極長鎖アシルCoA脱水素酵素欠損症", "yomigana": "にゅうじきはっしょうがたごくちょうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201141", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201149", "label_en": "DYT30 Dystonia", "label_ja": "DYT30 ジストニア", "yomigana": "でぃーわいてぃー30じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1201149", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Aggressive behavior | Autosomal dominant inheritance | Bipolar affective disorder | Childhood onset | Compulsive behaviors | Diffuse cerebral atrophy | Dystonia | Hypothalamic hamartoma | Impulsivity | Juvenile onset | Loss of ambulation | Middle age onset | Mild intellectual disability | Moderate intellectual disability | Oromandibular dystonia | Seizure | Torticollis | Writer's cramp | Young adult onset" ], "symptoms_ja_list": [ "びまん性大脳萎縮 | ジストニア | 双極性感情障害 | 口下顎ジストニア | 常染色体顕性遺伝 | 強迫性行動 | 攻撃的行動 | 斜頚 | 書痙 | 発作 | 知的障害", "中道動脈瘤 | 知的障害", "軽度 | 衝動性 | 視床下部過誤腫 | 進行性歩行不安定" ] }, { "id": "NANDO:1200050", "label_en": "Ataxia with isolated vitamin E deficiency", "label_ja": "ビタミンE単独欠乏性失調症", "yomigana": "びたみんいーたんどくけつぼうせいしっちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200050", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormal retinal pigmentation | Abnormal speech pattern | Abnormality of visual evoked potentials | Areflexia | Arrhythmia | Ataxia | Autosomal recessive inheritance | Babinski sign | Cerebellar atrophy | Clumsiness | Decreased circulating vitamin E concentration | Delayed somatosensory central conduction time | Developmental regression | Diabetes mellitus | Dysarthria | Dysdiadochokinesis | Dysmetria | Dystonia | Elevated circulating LDL-C concentration | Gait disturbance | Head titubation | Hemiplegia/hemiparesis | Hypercholesterolemia | Hypertonia | Hypertriglyceridemia | Hypertrophic cardiomyopathy | Impaired proprioception | Juvenile onset | Mental deterioration | Muscle weakness | Nyctalopia | Nystagmus | Peripheral neuropathy | Pes cavus | Pigmentary retinopathy | Positive Romberg sign | Progressive cerebellar ataxia | Scoliosis | Sensory neuropathy | Skeletal muscle atrophy | Tendon xanthomatosis | Tremor | Urinary urgency | Visual impairment | Xanthelasma" ], "symptoms_ja_list": [ "Babinski サイン | Romberg サイン陽性 | ジストニア | ビタミンE欠乏症 | 不器用 | 不整脈 | 中枢性身体感覚誘発電位の異常 | 側弯 | 凹足 | 固有覚障害 | 夜盲症 | 小脳萎縮 | 尿意切迫 | 常染色体潜性遺伝 | 感覚ニューロパチー | 手揺動 | 拮抗運動反復不全 | 振戦 | 末梢神経ニューロパチー | 構音障害 | 歩行障害 | 測定障害 | 無反射 | 片麻痺/片側不全麻痺 | 発達退行 | 眼振 | 知能悪化 | 神経学的発語障害 | 筋緊張亢進 | 筋萎縮 | 筋虚弱 | 糖尿病 | 網膜色素異常 | 肥大型心筋症 | 腱黄色腫症 | 色素性網膜症 | 視力障害 | 視覚誘発電位の異常 | 進行性小脳失調 | 運動失調 | 錐体路運動機能の異常 | 高βリポタンパク血症 | 高コレステロール血症 | 高トリグリセリド血症 | 黄色板症" ] }, { "id": "NANDO:2100051", "label_en": "Atrial fibrillation", "label_ja": "心房細動", "yomigana": "しんぼうさいどう", "url": "http://nanbyodata.jp/ontology/NANDO_2100051", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201061", "label_en": "obsolete Familial amyloid polyneuropathy type 2", "label_ja": "obsolete 家族性アミロイドニューロパチーII型", "yomigana": "かぞくせいあみろいどにゅーろぱちー2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201061", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200189", "label_en": "Airway obstruction and stenosis", "label_ja": "気道狭窄", "yomigana": "きどうきょうさく", "url": "http://nanbyodata.jp/ontology/NANDO_2200189", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201358", "label_en": "oboslete CHILD syndrome", "label_ja": "obsolete CHILD症候群", "yomigana": "ちゃいるどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201358", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200501", "label_en": "Paramyotonia congenita", "label_ja": "先天性パラミオトニー", "yomigana": "せんてんせいぱらみおとにー", "url": "http://nanbyodata.jp/ontology/NANDO_1200501", "notificationNumber": "114", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal circulating potassium concentration | Autosomal dominant inheritance | Cold-sensitive myotonia | Dysphagia | EMG: myopathic abnormalities | Facial muscle hypertrophy | Feeding difficulties | Handgrip myotonia | Infantile onset | Inspiratory stridor | Muscle stiffness | Muscle weakness | Myalgia | Myotonia | Myotonia of the face | Myotonia of the jaw | Myotonia of the upper limb | Neonatal hypotonia | Neonatal inspiratory stridor | Paradoxical myotonia | Percussion myotonia | Periodic hypokalemic paresis | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "カリウムホメオスターシスの異常 | ミオトニア | 上肢ミオトニア | 下顎ミオトニア | 叩打性ミオトニア | 吸気性喘鳴 | 周期性低カルシウム血症性不全麻痺 | 嚥下障害 | 寒冷感受性筋緊張亢進 | 常染色体顕性遺伝 | 握手ミオトニア | 新生児吸気性喘鳴 | 新生児筋緊張低下 | 筋痛 | 筋硬直 | 筋肥大 | 筋虚弱 | 筋電図: ミオパチー異常 | 逆説的ミオトニア | 顔ミオトニア | 顔面筋肥大 | 食餌摂取障害" ] }, { "id": "NANDO:2201086", "label_en": "Late-onset N-acetylglutamate synthetase deficiency", "label_ja": "遅発型N-アセチルグルタミン酸合成酵素欠損症", "yomigana": "ちはつがたえぬあせちるぐるたみんさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201086", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200353", "label_en": "ACTH-independent macronodular adrenal hyperplasia", "label_ja": "副腎皮質結節性過形成", "yomigana": "ふくじんひしつけっせつせいかけいせい", "url": "http://nanbyodata.jp/ontology/NANDO_2200353", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100127", "symptoms_en_list": [ "Abdominal obesity | Acne | Alopecia | Bruising susceptibility | Cognitive impairment | Decreased circulating ACTH concentration | Depression | Emotional lability | Glucose intolerance | Hepatic steatosis | Hirsutism | Hyperlipidemia | Hypertension | Increased body weight | Increased circulating aldosterone concentration | Increased circulating cortisol level | Increased susceptibility to fractures | Increased urinary cortisol level | Irregular menstruation | Kidney stone | Macronodular adrenal hyperplasia | Mania | Memory impairment | Meningioma | Neuroendocrine neoplasm | Osteoporosis | Paradoxical increased cortisol secretion on dexamethasone suppression test | Pituitary adenoma | Plethora | Primary hyperparathyroidism | Proximal amyotrophy | Proximal muscle weakness | Psychotic episodes | Renal cell carcinoma | Striae distensae" ], "symptoms_ja_list": [ "?瘡 | うつ | デキサメサゾン抑制試験での逆説的コルチゾール分泌の増加 | マニア | 下垂体腺腫 | 伸展線 | 体重増加 | 出血傾向 | 原発性副甲状腺機能亢進症 | 多毛 | 多血症 | 尿中コルチゾール 値増加 | 巨大結節性副腎過形成 | 循環性ACTH 値減少 | 循環性コルチゾール 値増加 | 情動不安定 | 易骨折性の増加 | 月経不純 | 神経内分泌新生物 | 禿頭 | 精神病エピソード | 耐糖能異常 | 脂肪肝 | 腎細胞癌 | 腎結石 | 腹部肥満 | 記憶障害 | 認知障害 | 近位筋萎縮 | 近位筋虚弱 | 骨粗鬆症 | 髄膜腫 | 高アルドステロン症 | 高脂血症 | 高血圧" ] }, { "id": "NANDO:2200300", "label_en": "Tricuspid valve stenosis", "label_ja": "三尖弁狭窄症", "yomigana": "さんせんべんきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200300", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100105", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201170", "label_en": "Hurler-Scheie disease", "label_ja": "Hurler-Scheie病", "yomigana": "はーらーしゃいえびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201170", "notificationNumber": "129", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal heart valve morphology | Abnormal pyramidal sign | Abnormal vertebral morphology | Abnormality of the tonsils | Aortic regurgitation | Autosomal recessive inheritance | Camptodactyly of finger | Cardiomyopathy | Childhood onset | Coarse facial features | Contracture of the distal interphalangeal joint of the fingers | Corneal opacity | Depressed nasal bridge | Dermatan sulfate excretion in urine | Dysostosis multiplex | Generalized hirsutism | Growth delay | Heparan sulfate excretion in urine | Hepatomegaly | Hernia | Hirsutism | Inguinal hernia | Joint stiffness | Kyphosis | Limitation of joint mobility | Micrognathia | Mitral regurgitation | Obstructive sleep apnea | Pulmonary arterial hypertension | Recurrent respiratory infections | Rhinitis | Scoliosis | Sensorineural hearing impairment | Short stature | Skeletal dysplasia | Spinal canal stenosis | Splenomegaly | Thenar muscle atrophy | Thick vermilion border | Thickened skin | Tracheal stenosis | Umbilical hernia" ], "symptoms_ja_list": [ "ヘルニア | 低身長 | 側弯 | 僧帽弁逆流 | 全身性多毛 | 分厚い唇紅部縁 | 分厚い皮膚 | 反復性呼吸器感染症 | 多毛 | 多発性異骨症 | 大動脈逆流 | 小顎 | 尿中硫酸デルマタン排泄 | 尿中硫酸ヘパラン排泄 | 屈指 | 常染色体潜性遺伝 | 後弯 | 心弁の異常 | 心筋症 | 感音難聴 | 成長遅滞 | 扁桃の異常 | 指の遠位指間(DIP)関節拘縮 | 母指球筋萎縮 | 気管狭窄 | 粗な顔貌 | 肝腫 | 肺高血圧 | 脊椎の異常 | 脊椎管狭窄 | 脾腫 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 角膜混濁 | 錐体路運動機能の異常 | 閉塞性睡眠時無呼吸 | 関節拘縮 | 関節運動制限 | 骨格異形成 | 鼠径ヘルニア | 鼻炎" ] }, { "id": "NANDO:2200991", "label_en": "Autosomal recessive congenital ichthyosis", "label_ja": "常染色体劣性遺伝性魚鱗癬", "yomigana": "じょうせんしょくたいれっせいいでんせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_2200991", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201075", "label_en": "Pseudohypoparathyroidism type 1A", "label_ja": "偽性副甲状腺機能低下症Ia型", "yomigana": "ぎせいふくこうじょうせんきのうていかしょう1えーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201075", "notificationNumber": "236", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abdominal symptom | Abnormal platelet function | Anxiety | Autosomal dominant inheritance | Band keratopathy | Basal ganglia calcification | Brachydactyly | Broad 1st metacarpal | Broad distal phalanx of the thumb | Calcinosis | Cataract | Cerebral calcification | Chest pain | Choreoathetosis | Choroid plexus calcification | Cognitive impairment | Confusion | Conjunctivitis | Constrictive median neuropathy | Decreased response to growth hormone stimulation test | Delayed eruption of teeth | Depressed nasal bridge | Depression | Dyspnea | Ectopic ossification | Elevated circulating calcitonin concentration | Elevated circulating parathyroid hormone level | Enamel hypoplasia | Full cheeks | Hypergonadotropic hypogonadism | Hyperostosis frontalis interna | Hyperphosphatemia | Hypertension | Hypocalcemia | Hypocalcemic seizures | Hypocalcemic tetany | Hypogonadism | Hyporeflexia | Hypothyroidism | Increased bone mineral density | Infantile onset | Intellectual disability | Involuntary movements | Irritability | Laryngeal dystonia | Low urinary cyclic AMP response to PTH administration | Muscle spasm | Myoclonic spasms | Nystagmus | Obesity | Oligomenorrhea | Osteoporosis | Paresthesia | Pituitary resistance to thyroid hormone | Polyphagia | Prolonged QT interval | Pseudohypoparathyroidism | Reduced bone mineral density | Reduced circulating prolactin concentration | Round face | Seizure | Sensorineural hearing impairment | Short 3rd metacarpal | Short 4th metacarpal | Short 5th metacarpal | Short fifth metatarsal | Short finger | Short metacarpal | Short metatarsal | Short neck | Short stature | Short toe | Spinal cord compression | Strabismus | Thickened calvaria" ], "symptoms_ja_list": [ "PTH 投与への尿中 cyclic AMP反応の低下 | うつ | カルシトニン上昇 | プロラクチン欠乏症 | ミオクローヌス性スパスム | 不安 | 不随意運動 | 丸い顔 | 低カルシウム血症 | 低カルシウム血症性テタニー | 低カルシウム血症性発作 | 低身長 | 偽性副甲状腺機能低下症 | 共通 | 内前頭骨過骨症 | 分厚い頭蓋冠 | 反射低下 | 収縮性正中神経ニューロパチー | 呼吸困難 | 喉頭ジストニア | 基底核石灰化 | 大きな頬 | 大脳石灰化 | 希発月経 | 帯状角膜症 | 常染色体顕性遺伝 | 幅広い母指末節骨 | 幅広い第1中手骨 | 循環性副甲状腺ホルモン(PTH) 値上昇 | 性腺機能低下症 | 感覚異常 | 感音難聴 | 成長ホルモン欠乏症 | 斜視 | 歯エナメル質低形成 | 歯萠出遅延 | 甲状腺ホルモンへの下垂体抵抗性 | 甲状腺機能低下症 | 異所性骨化 | 発作 | 白内障 | 眼振 | 知的障害 | 短い中手骨 | 短い中足骨 | 短い指 | 短い第3中手骨 | 短い第4中手骨 | 短い第5中手骨 | 短い第5中足骨 | 短い趾 | 短い頸部 | 短指症候群 | 石灰症 | 筋けいれん | 結膜炎 | 肥満 | 脈絡膜叢石灰化 | 脊髄圧迫 | 腹部症状 | 舞踏病アテトーゼ | 落ちくぼんだ鼻梁 | 血小板機能の異常 | 被刺激性 | 認知障害 | 過食症 | 遷延性 QT 間隔 | 錯乱 | 骨ミネラル濃度の増加 | 骨ミネラル濃度減少 | 骨粗鬆症 | 高ゴナドトロピン性性腺機能低下症 | 高リン血漿 | 高血圧" ] }, { "id": "NANDO:2100136", "label_en": "Hyperestrogenism (excluding precocious puberty)", "label_ja": "エストロゲン過剰症", "yomigana": "えすとろげんかじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100136", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100154", "label_en": "Relapsing Polychondritis", "label_ja": "再発性多発軟骨炎", "yomigana": "さいはつせいたはつなんこつえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100154", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100151", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100024", "label_en": "Renal malformation", "label_ja": "腎奇形", "yomigana": "じんきけい", "url": "http://nanbyodata.jp/ontology/NANDO_2100024", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200159", "label_en": "Variant Fabry disease", "label_ja": "亜型ファブリー病", "yomigana": "あがたふぁぶりーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200159", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100173", "label_en": "Porphyria", "label_ja": "先天性ポルフィリン症", "yomigana": "せんてんせいぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100173", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200830", "label_en": "Sturge-Weber syndrome", "label_ja": "スタージ・ウェーバー症候群", "yomigana": "すたーじ・うぇーばーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200830", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100220", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Abnormal choroid morphology | Abnormal retinal vascular morphology | Abnormality of vision | Arachnoid hemangiomatosis | Attention deficit hyperactivity disorder | Atypical behavior | Autistic behavior | Blindness | Buphthalmos | Capillary hemangioma | Central hypothyroidism | Cerebral calcification | Cerebral cortical atrophy | Chiari malformation | Choroidal hemangioma | Conjunctival telangiectasia | Corneal dystrophy | Delayed speech and language development | Dental malocclusion | Dysphagia | Epiphora | Facial capillary hemangioma | Facial hemangioma | Gingival overgrowth | Glaucoma | Headache | Hearing abnormality | Hemianopia | Heterochromia iridis | Hydrocephalus | Hyperostosis | Hyperreflexia | Infantile spasms | Intellectual disability | Iris coloboma | Lens luxation | Macrocephaly | Neurodevelopmental delay | Ocular pain | Optic atrophy | Pulmonary embolism | Retinal detachment | Seizure | Sleep disturbance | Sporadic | Strabismus | Stroke | Venous thrombosis | Visceral angiomatosis | Visual field defect | Visual loss" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | くも膜血管腫症 | コロボーマ | 不正咬合 | 中枢性甲状腺機能低下症 | 乳児スパスム | 内臓血管腫症 | 半盲 | 卒中 | 反射亢進 | 嚥下障害 | 大脳皮質萎縮 | 大脳石灰化 | 大脳血管の異常 | 大頭 | 孤発性 | 斜視 | 歯肉過成長 | 毛細血管血管腫 | 水晶体脱臼 | 水頭症 | 注意力欠陥多動性疾患 | 流涙の増加 | 牛眼 | 発作 | 発語および言語発達遅延 | 盲 | 眼痛 | 睡眠障害 | 知的障害 | 神経発生遅延 | 結膜毛細血管拡張 | 網膜剥離 | 網膜血管の異常 | 緑内障 | 聴覚異常 | 肺塞栓症 | 脈絡膜の異常 | 脈絡膜血管腫症 | 自閉性行動 | 虹彩異色症 | 行動異常 | 視力喪失 | 視神経萎縮 | 視覚の異常 | 視野障害 | 角膜ジストロフィー | 静脈血栓症 | 頭痛 | 顔面毛細血管腫 | 顔面血管腫 | 骨化過剰" ] }, { "id": "NANDO:2100003", "label_en": "Myelodysplastic syndrome", "label_ja": "骨髄異形成症候群", "yomigana": "こつずいいけいせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100003", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201036", "label_en": "Unilateral retinoblastoma (right)", "label_ja": "片側性網膜芽細胞腫（右）", "yomigana": "へんそくせいもうまくがさいぼうしゅ（みぎ）", "url": "http://nanbyodata.jp/ontology/NANDO_2201036", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200443", "label_en": "CARD14 deficiency", "label_ja": "CARD14異常症", "yomigana": "しーえーあーるでぃー14いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200443", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Autosomal dominant inheritance | Hyperkeratosis | Parakeratosis | Psoriasiform dermatitis" ], "symptoms_ja_list": [ "不全角化症 | 乾癬 | 常染色体顕性遺伝 | 過角化症" ] }, { "id": "NANDO:2100101", "label_en": "Aortic aneurysm", "label_ja": "大動脈瘤", "yomigana": "だいどうみゃくりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2100101", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200406", "label_en": "IMAge syndrome", "label_ja": "IMAge症候群", "yomigana": "いめーじしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200406", "notificationNumber": "82", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormality of the genital system | Adrenal hypoplasia | Autosomal dominant inheritance | Craniosynostosis | Cryptorchidism | Decreased response to growth hormone stimulation test | Delayed skeletal maturation | Depressed nasal bridge | Epiphyseal dysplasia | Frontal bossing | Global developmental delay | Hydronephrosis | Hypercalcemia | Hypercalciuria | Hypogonadism | Hypospadias | Hypotonia | Intrauterine growth retardation | Low-set ears | Macrocephaly | Metaphyseal dysplasia | Micromelia | Micropenis | Osteopenia | Postnatal growth retardation | Prominent forehead | Short nose" ], "symptoms_ja_list": [ "停留精巣 | 全般性発達遅滞 | 前頭突出", "額突出 | 副腎低形成 | 大頭 | 子宮内成長遅滞 | 小肢症 | 小陰茎 | 尿道下裂 | 常染色体顕性遺伝 | 性器異常 | 性腺機能低下症 | 成長ホルモン欠乏症 | 水腎症 | 生後の成長遅滞 | 目立つ額 | 短い鼻 | 筋緊張低下 | 耳介低位 | 落ちくぼんだ鼻梁 | 頭蓋合骨症 | 骨幹端異形成 | 骨格骨化遅延 | 骨減少症 | 骨端異形成 | 高カルシウム尿 | 高カルシウム血症" ] }, { "id": "NANDO:1200995", "label_en": "Adenosine deaminase 2 deficiency", "label_ja": "ADA2欠損症", "yomigana": "えーでぃーえー2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200995", "notificationNumber": "325", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Agitation | Anemia | Aphasia | Arthralgia | Arthritis | Ataxia | Autosomal recessive inheritance | Bone marrow hypocellularity | Childhood onset | Cutis marmorata | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total lymphocyte count | Dilated cardiomyopathy | Eczematoid dermatitis | Elevated circulating C-reactive protein concentration | Elevated circulating hepatic transaminase concentration | Elevated erythrocyte sedimentation rate | Erythema nodosum | Esophageal varix | Feeding difficulties | Fever | Hashimoto thyroiditis | Headache | Hemiplegia | Hepatomegaly | Hepatosplenomegaly | Hypertension | Immunodeficiency | Increased total leukocyte count | Infantile onset | Juvenile onset | Lymphadenopathy | Lymphoproliferative disorder | Myalgia | Neonatal onset | Ophthalmoplegia | Optic atrophy | Oral ulcer | Pancytopenia | Panniculitis | Peripheral neuropathy | Portal hypertension | Purpura | Recurrent fever | Recurrent infections | Recurrent otitis media | Recurrent sinusitis | Skin rash | Skin ulcer | Splenomegaly | Stroke | Thrombocytosis | Type I diabetes mellitus | Vasculitis" ], "symptoms_ja_list": [ "CRP 上昇 | I 型糖尿病 | リンパ増殖性疾患 | リンパ球減少症 | リンパ節腫大 | 不穏 | 低ガンマグロブリン血症 | 免疫不全 | 卒中 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性感染症 | 口腔潰瘍 | 大理石皮膚 | 失語症 | 常染色体潜性遺伝 | 拡張型心筋症 | 末梢神経ニューロパチー | 橋本甲状腺炎 | 汎血球減少症 | 湿疹 | 片麻痺 | 発熱 | 発熱エピソード | 白血球増多症 | 白血球減少症 | 皮膚潰瘍 | 皮膚発疹 | 眼筋麻痺 | 筋痛 | 紫斑 | 結節性紅斑 | 肝トランスアミナーゼ上昇 | 肝脾腫 | 肝腫 | 脂肪織炎 | 脾腫 | 腹痛 | 血小板増多症 | 血管炎 | 視神経萎縮 | 貧血 | 赤沈値上昇 | 運動失調 | 門脈圧亢進 | 関節炎 | 関節痛 | 頭痛 | 食道静脈瘤 | 食餌摂取障害 | 骨髄細胞数増多 | 高血圧" ] }, { "id": "NANDO:2200362", "label_en": "Apparent mineralocorticoid excess syndrome", "label_ja": "見かけの鉱質コルチコイド過剰症候群", "yomigana": "みかけのこうしつこるちこいどかじょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200362", "notificationNumber": "86", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100130", "symptoms_en_list": [ "Abnormal urine sodium concentration | Abnormality of circulating cortisol level | Autosomal recessive inheritance | Childhood onset | Decreased circulating aldosterone concentration | Decreased circulating renin concentration | Failure to thrive | Growth delay | Hypertension | Hypertensive retinopathy | Hypokalemia | Hypokalemic metabolic alkalosis | Intrauterine growth retardation | Left ventricular hypertrophy | Metabolic alkalosis | Nephrocalcinosis | Polydipsia | Renal insufficiency | Renal sodium wasting | Short stature | Small for gestational age | Stroke" ], "symptoms_ja_list": [ "代謝性アルカローシス | 低アルドステロン症 | 低カリウム血症 | 低カリウム血症性代謝性アルカロージス | 低身長 | 卒中 | 在胎月齢より小さい児 | 多飲 | 子宮内成長遅滞 | 尿中ナトリウム濃度異常 | 左室肥大 | 常染色体潜性遺伝 | 循環性コルチゾール値異常 | 循環性レニン値減少 | 成長遅滞 | 成長障害 (成長不全) | 腎不全 | 腎性ナトリウム喪失 | 腎石灰化症 | 高血圧 | 高血圧性網膜症" ] }, { "id": "NANDO:2201342", "label_en": "Junctional epidermolysis bullosa", "label_ja": "接合部型表皮水疱症", "yomigana": "せつごうぶがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201342", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201264", "label_en": "Hereditary coproporphyria", "label_ja": "遺伝性コプロポルフィリン症", "yomigana": "いでんせいこぷろぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201264", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100173", "symptoms_en_list": [ "Abdominal pain | Abnormal blistering of the skin | Abnormal circulating porphyrin concentration | Abnormal skin morphology | Acute episodes of neuropathic symptoms | Anemia | Anxiety | Atypical scarring of skin | Autosomal dominant inheritance | Back pain | Confusion | Constipation | Cutaneous photosensitivity | Depression | Diarrhea | Distal muscle weakness | Elevated urinary delta-aminolevulinic acid | Episodic vomiting | Extension of hair growth on temples to lateral eyebrow | Facial hirsutism | Fever | Fragile skin | Hallucinations | Hepatocellular carcinoma | Hepatomegaly | Hypertension | Hyponatremia | Increased urinary porphobilinogen | Insomnia | Jaundice | Limb pain | Long hairs growing from helix of pinna | Motor polyneuropathy | Nausea | Nephropathy | Paranoia | Peripheral neuropathy | Porphyrinuria | Proximal lower limb muscle weakness | Proximal upper limb muscle weakness | Psychosis | Respiratory insufficiency | Respiratory paralysis | Seizure | Small intestinal dysmotility | Splenomegaly | Tachycardia | Typified by incomplete penetrance | Vomiting | Young adult onset" ], "symptoms_ja_list": [ "うつ | こめかみ毛髪の外側眉毛への伸長 | パラノイア | ヘム生合成経路の異常 | ポルフィリン尿 | 上肢の近位筋虚弱 | 下痢 | 下肢の近位筋虚弱 | 不安 | 不眠 | 低ナトリウム血症 | 便秘 | 吐気 | 呼吸不全 | 呼吸麻痺 | 嘔吐 | 嘔吐エピソード | 四肢痛 | 小腸蠕動異常 | 尿中δ-アミノレブリン酸上昇 | 尿中ポルホビリノーゲン増加 | 常染色体顕性遺伝 | 幻覚 | 末梢神経ニューロパチー | 異常な皮膚水泡 | 発作 | 発熱 | 皮膚光線過敏症 | 皮膚形態の異常 | 神経病症状の急性エピソード | 精神病 | 耳輪から伸びた長い毛髪 | 肝細胞癌 | 肝腫 | 背部痛 | 脆い皮膚 | 脾腫 | 腎症 | 腹痛 | 貧血 | 運動性ポリニューロパチー | 遠位筋虚弱 | 錯乱 | 非典型的皮膚瘢痕 | 頻拍 | 顔面多毛 | 高血圧 | 黄疸" ] }, { "id": "NANDO:1100003", "label_en": "Skin and connective tissue disease", "label_ja": "皮膚・結合組織疾患", "yomigana": "ひふ・けつごうそしきしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100003", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100103", "label_en": "Pulmonary arterial hypertension", "label_ja": "肺動脈性肺高血圧症", "yomigana": "はいどうみゃくせいはいこうけつあつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100103", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200885", "label_en": "Segawa syndrome", "label_ja": "瀬川病", "yomigana": "せがわびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200885", "notificationNumber": "100", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100240", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200503", "label_en": "Primary hyperoxaluria", "label_ja": "原発性高シュウ酸尿症", "yomigana": "げんぱつせいこうしゅうさんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200503", "notificationNumber": "99", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormal dental pulp morphology | Abnormality of the dentition | Aciduria | Acrocyanosis | Bone pain | Calcium oxalate nephrolithiasis | Cardiomyopathy | Choroidal neovascularization | Chronic kidney disease | Cutis marmorata | Elevated circulating hepatic transaminase concentration | Failure to thrive | Gangrene | Generalized osteosclerosis | Heart block | Hematuria | Hypercalciuria | Hyperoxaluria | Intermittent claudication | Metabolic acidosis | Nephrocalcinosis | Optic atrophy | Optic disc pallor | Peripheral neuropathy | Recurrent fractures | Reduced visual acuity | Retinopathy | Rootless teeth | Stage 5 chronic kidney disease" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | 中心視力減少 | 代謝性アシドーシス | 全身性骨硬化症 | 反復性骨折 | 壊疽 | 大理石皮膚 | 心ブロック | 心筋症 | 慢性腎疾患 | 成長障害 (成長不全) | 末梢神経ニューロパチー | 歯の異常 | 歯根のない歯 | 歯髄の異常 | 網膜症 | 肝トランスアミナーゼ上昇 | 肢端チアノーゼ | 腎石灰化症 | 蓚酸カルシウム腎結石 | 血尿 | 視神経杯蒼白 | 視神経萎縮 | 酸性尿 | 間歇的跛行 | 骨痛 | 高カルシウム尿 | 高蓚酸尿 | 黄斑の脈絡膜血管新生" ] }, { "id": "NANDO:2200376", "label_en": "Other congenital adrenal hyperplasia", "label_ja": "50から55までに掲げるもののほか、先天性副腎過形成症", "yomigana": "50から55までにかかげるもののほか、せんてんせいふくじんかけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200376", "notificationNumber": "62", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100134", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200159", "label_en": "Oligomeganephronia", "label_ja": "寡巨大糸球体症", "yomigana": "かきょだいしきゅうたいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200159", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Abnormal nephron morphology | Abnormal renal cortex morphology | Abnormality of the face | Bilateral renal hypoplasia | Branchial cyst | Congenital diaphragmatic hernia | Decreased glomerular filtration rate | Decreased numbers of nephrons | Dehydration | Elevated circulating creatinine concentration | Hearing impairment | Hypertension | Micrognathia | Neurodevelopmental delay | Optic disc coloboma | Polydipsia | Premature birth | Proteinuria | Pulmonary hypoplasia | Pulmonary venous occlusion | Renal insufficiency | Renal tubular atrophy | Secundum atrial septal defect | Seizure | Small for gestational age | Stage 5 chronic kidney disease | Unilateral renal agenesis" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | ネフロン数減少 | ネフロン異常 | 両側性腎低形成 | 二次口心房中隔欠損症 | 先天性横隔膜ヘルニア | 在胎月齢より小さい児 | 多飲 | 小顎 | 尿細管萎縮 | 早産 | 片側性腎無発生 | 発作 | 神経発生遅延 | 糸球体濾過率減少 | 肺低形成 | 肺静脈閉塞性疾患 | 脱水 | 腎不全 | 腎皮質異常 | 蛋白尿 | 血清クレアチン症状 | 視神経コロボーマ | 難聴 | 顔の異常 | 高血圧 | 鰓膿疱" ] }, { "id": "NANDO:1200930", "label_en": "IgG4-related kidney disease", "label_ja": "IgG4関連腎臓病", "yomigana": "あいじーじー4かんれんじんぞうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200930", "notificationNumber": "300", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal aortic morphology | Abnormal lung morphology | Abnormal mesentery morphology | Abnormality of the anterior pituitary | Acute kidney injury | Albuminuria | Antinuclear antibody positivity | Arteritis | Cholecystitis | Chronic kidney disease | Chronic sinusitis | Dacryocystitis | Decreased circulating complement C3 concentration | Decreased liver function | Elevated circulating C-reactive protein concentration | Elevated circulating creatinine concentration | Enlarged kidney | Fatigue | Hematuria | Hydronephrosis | Increased circulating IgE concentration | Increased circulating IgG concentration | Increased total eosinophil count | Inflammatory abnormality of the skin | Interstitial pneumonitis | Lymphadenitis | Lymphadenopathy | Membranous nephropathy | Meningitis | Nephrotic range proteinuria | Pancreatitis | Pedal edema | Pericarditis | Pleuritis | Prostatitis | Proteinuria | Reduced circulating complement concentration | Renal insufficiency | Retroperitoneal fibrosis | Rheumatoid factor positive | Sterile pyuria | Thyroiditis | Tubulointerstitial nephritis | Ureteral obstruction | Urinary bladder inflammation | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | IgE 値増加 | IgG 値増加 | アルブミン尿 | ネフローゼ範囲の蛋白尿 | リウマチ因子陽性 | リンパ節炎 | リンパ節腫大 | 下垂体前葉異常 | 体重喪失 | 前立腺炎 | 動脈炎 | 大動脈の異常 | 好酸球増多症 | 尿管閉塞 | 尿細管間質性腎炎 | 後腹膜線維症 | 心外膜炎 | 急性腎外傷 | 慢性副鼻腔炎 | 慢性腎疾患 | 抗核抗体陽性 | 水腎症 | 浮腫 (下肢) | 涙嚢炎 | 無菌性白血球尿 | 甲状腺炎 | 疲労 | 皮膚の炎症性異常 | 肝機能低下 | 肺の異常 | 胆嚢炎 | 胸膜炎 | 腎不全 | 腎拡大 | 腸間膜の異常 | 腹痛 | 膀胱炎症 | 膜性腎症 | 膵炎 | 蛋白尿 | 血尿 | 血清クレアチン症状 | 血清補体 C3減少 | 補体欠乏症 | 間質性肺臓炎 | 髄膜炎" ] }, { "id": "NANDO:1200023", "label_en": "Multiple sclerosis", "label_ja": "多発性硬化症", "yomigana": "たはつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200023", "notificationNumber": "13", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200293", "label_en": "Idiopathic restrictive cardiomyopathy", "label_ja": "特発性拘束型心筋症", "yomigana": "とくはつせいこうそくがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200293", "notificationNumber": "59", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200114", "label_en": "Membranous nephropathy", "label_ja": "膜性腎症", "yomigana": "まくせいじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200114", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100287", "label_en": "von Recklinghausen's disease", "label_ja": "レックリングハウゼン病", "yomigana": "れっくりんぐはうぜんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100287", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200266", "label_en": "Atrial septal defect, ostium secundum type", "label_ja": "二次孔型心房中隔欠損症", "yomigana": "にじこうがたしんぼうちゅうかくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200266", "notificationNumber": "50", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100085", "symptoms_en_list": [ "Abnormal left ventricular function | Abnormal mitral valve morphology | Airway obstruction | Arrhythmia | Atrial fibrillation | Atrial flutter | Breathing dysregulation | Bundle branch block | Congestive heart failure | Cyanosis | Dyspnea | Exercise intolerance | Exertional dyspnea | Fatigue | First degree atrioventricular block | Increased pulmonary vascular resistance | Left-to-right shunt | Mitral regurgitation | Orthopnea | Palpitations | Pedal edema | Pneumonia | Pulmonary arterial hypertension | Recurrent bacterial infections | Right ventricular dilatation | Right ventricular failure | ST segment depression | Stroke | Supraventricular arrhythmia | Supraventricular tachycardia | Syncope | Transient ischemic attack | Tricuspid regurgitation" ], "symptoms_ja_list": [ "1度房室ブロック | ST 部分低下 | うっ血性心不全 | チアノーゼ | 一過性虚血発作 | 三尖弁逆流 | 上室性不整脈 | 上室性頻拍 | 不整脈 | 僧帽弁の異常 | 僧帽弁逆流 | 動悸 | 卒中 | 反復性細菌感染症 | 右室不全 | 右室拡張 | 呼吸困難 | 呼吸調節障害 | 失心 | 左-右シャントunt | 左室機能障害 | 心房粗動 | 心房細動 | 浮腫 (下肢) | 疲労 | 肺炎 | 肺血管抵抗の増加 | 肺高血圧 | 脚ブロック | 起坐呼吸 | 運動不耐症 | 運動性呼吸困難 | 閉塞性肺疾患" ] }, { "id": "NANDO:2200398", "label_en": "Insulinoma", "label_ja": "インスリノーマ", "yomigana": "いんすりのーま", "url": "http://nanbyodata.jp/ontology/NANDO_2200398", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100143", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200224", "label_en": "Schwartz-Jampel syndrome", "label_ja": "シュワルツ・ヤンペル症候群", "yomigana": "しゅわるつ・やんぺるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200224", "notificationNumber": "33", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal epiphysis morphology | Abnormal eyebrow morphology | Abnormal metaphysis morphology | Abnormal rib morphology | Abnormal speech pattern | Abnormality of immune system physiology | Abnormality of the pharynx | Abnormality of the ureter | Abnormality of the urinary system | Abnormally high-pitched voice | Abnormally ossified vertebrae | Abnormally straight spine | Anxiety | Aplasia/Hypoplasia affecting the eye | Apnea | Arrhythmia | Arthrogryposis multiplex congenita | Attention deficit hyperactivity disorder | Blepharophimosis | Blepharospasm | Bowing of the long bones | Cachexia | Cataract | Cleft palate | Coxa valga | Coxa vara | Death in infancy | Decreased body weight | Decreased testicular size | Delayed skeletal maturation | Dental malocclusion | Distichiasis | Dysphonia | EMG abnormality | Ectopia lentis | Elbow dislocation | Elevated circulating aldolase concentration | Elevated circulating creatine kinase activity | Everted lower lip vermilion | Feeding difficulties in infancy | Flat face | Flexion contracture of toe | Full cheeks | Gait disturbance | Generalized hirsutism | Genu valgum | High palate | Hip contracture | Hip dysplasia | Hyperlordosis | Hypertelorism | Hypertonia | Hyporeflexia | Increased bone mineral density | Inguinal hernia | Intellectual disability | Irritability | Joint stiffness | Kidney stone | Kyphosis | Laryngomalacia | Long eyelashes in irregular rows | Long philtrum | Low anterior hairline | Malignant hyperthermia | Mask-like facies | Metatarsus valgus | Microcephaly | Microcornea | Micrognathia | Micromelia | Muscle weakness | Myalgia | Myopathy | Myopia | Myotonia | Narrow mouth | Odontogenic neoplasm | Osteoporosis | Overfolded helix | Pectus carinatum | Pectus excavatum | Pes planus | Platyspondyly | Polyhydramnios | Posteriorly rotated ears | Prenatal movement abnormality | Prominent nasal bridge | Protrusio acetabuli | Ptosis | Pulmonary arterial hypertension | Pursed lips | Respiratory insufficiency | Scoliosis | Short neck | Short stature | Shoulder flexion contracture | Skeletal dysplasia | Skeletal muscle atrophy | Skeletal muscle hypertrophy | Spinal rigidity | Sprengel anomaly | Strabismus | Supernumerary tooth | Talipes equinovarus | Testicular torsion | Trismus | Umbilical hernia | Visual impairment | Weak voice | Wormian bones | Wrist flexion contracture" ], "symptoms_ja_list": [ "Sprengel 奇形 | すぼめた口唇 | はと胸 | アルドラーゼ値上昇 | ウォルム氏骨 | ミオトニア | ミオパチー | 下口唇唇紅部外反 | 不安 | 不整脈 | 不正咬合 | 不規則な列の長い睫毛 | 両眼隔離 | 二重睫毛 | 仮面様顔貌 | 低い前部毛髪線 | 低身長 | 体重減少 | 側弯 | 先天性多発性関節拘縮 | 免疫系生理の異常 | 全身性多毛 | 内反尖足 | 内反股 | 出生前の運動異常 | 前弯 | 反射低下 | 口蓋裂 | 呼吸不全 | 咽頭の異常 | 喉頭軟化症 | 外反股 | 外反膝 | 外転中足骨 | 大きな頬 | 寛骨臼突出 | 小肢症 | 小角膜 | 小頭 | 小顎 | 尿管異常 | 尿路異常 | 平坦な顔 | 弱い声 | 後弯 | 悪性高体温症 | 悪液質 (カヘキシー) | 扁平脊椎 | 扁平足 | 手関節屈曲拘縮 | 斜視 | 歩行障害 | 歯数増加 | 歯源性新生物 | 注意力欠陥多動性疾患 | 漏斗胸 | 無呼吸 | 狭い口 | 異常にまっすぐな脊椎 | 異所性水晶体 | 発音障害 | 白内障 | 目立つ鼻梁 | 眉毛の異常 | 眼無形成/低形成 | 眼瞼スパスム | 眼瞼下垂 | 眼瞼裂狭小 | 知的障害 | 短い頸部 | 神経学的発語障害 | 筋痛 | 筋緊張亢進 | 筋肥大 | 筋萎縮 | 筋虚弱 | 筋電図異常 | 精巣サイズ減少 | 精巣捻転 | 羊水過多 | 耳介後方回転 | 耳輪の過剰な巻き込み | 肋骨の異常 | 肘脱臼 | 股関節拘縮 | 股関節異形成 | 肩屈曲拘縮 | 肺高血圧 | 脊椎強直 | 脊椎骨骨化異常 | 腎結石 | 臍ヘルニア | 血清 creatine phosphokinase上昇 | 被刺激性 | 視力障害 | 趾屈曲拘縮 | 近視 | 長い人中 | 長管骨湾曲 | 開口障害 (牙関緊急) | 関節拘縮 | 食餌摂取障害 in infancy | 骨ミネラル濃度の増加 | 骨幹端の異常 | 骨格異形成 | 骨格骨化遅延 | 骨端の異常 | 骨粗鬆症 | 高口蓋 | 高音の声 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200175", "label_en": "Leigh's encephalomyelopathy", "label_ja": "リー脳症", "yomigana": "りーのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200175", "notificationNumber": "21", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "3-Methylglutaconic aciduria | Abnormal basal ganglia MRI signal intensity | Abnormal brainstem MRI signal intensity | Abnormal circulating enzyme concentration or activity | Abnormal dentate nucleus morphology | Abnormal facial shape | Abnormal optic nerve morphology | Abnormal pattern of respiration | Abnormal thalamic MRI signal intensity | Abnormality of extrapyramidal motor function | Abnormality of movement | Abnormality of the skeletal system | Agenesis of corpus callosum | Alopecia | Anemia | Ataxia | Athetosis | Autosomal recessive inheritance | CNS demyelination | Cataract | Cerebellar atrophy | Childhood onset | Chorea | Choreoathetosis | Complex organic aciduria | Congestive heart failure | Decreased activity of mitochondrial complex I | Decreased activity of mitochondrial complex II | Decreased activity of mitochondrial complex III | Decreased activity of mitochondrial complex IV | Decreased activity of mitochondrial respiratory chain | Decreased activity of the pyruvate dehydrogenase complex | Decreased total neutrophil count | Developmental regression | Diffuse spongiform leukoencephalopathy | Distal muscle weakness | Dysarthria | Dyskinesia | Dysphagia | Dystonia | Eczematoid dermatitis | Elevated brain lactate level by MRS | Emotional lability | Ethylmalonic aciduria | Failure to thrive | Feeding difficulties | Floppy infant | Focal T2 hyperintense basal ganglia lesion | Focal T2 hyperintense brainstem lesion | Frontal hirsutism | Gastrointestinal dysmotility | Generalized aminoaciduria | Generalized hypotonia | Gliosis | Global developmental delay | Growth delay | Hepatic failure | Hepatocellular necrosis | High forehead | Hyperalaninemia | Hyperkinetic movements | Hyperreflexia | Hypertrichosis | Hypertrophic cardiomyopathy | Hypoglycemia | Hypoplasia of the corpus callosum | Hypotonia | Hypsarrhythmia | Increased CSF lactate | Increased circulating lactate concentration | Infantile onset | Infantile spasms | Intellectual disability | Intrauterine growth retardation | Involuntary movements | Ketoacidosis | Lactic acidosis | Lacticaciduria | Leukodystrophy | Macrotia | Methylmalonic aciduria | Mitochondrial inheritance | Multiple joint contractures | Muscle weakness | Myopathy | Nephrotic syndrome | Neuronal loss in basal ganglia | Nystagmus | Olivopontocerebellar atrophy | Ophthalmoplegia | Optic atrophy | Peripheral neuropathy | Pigmentary retinopathy | Progressive | Progressive neurologic deterioration | Ptosis | Renal tubular acidosis | Renal tubular dysfunction | Respiratory failure | Respiratory insufficiency | Seizure | Sensorineural hearing impairment | Sensory axonal neuropathy | Skeletal muscle atrophy | Spastic diplegia | Spasticity | Status epilepticus | Strabismus | Upper motor neuron dysfunction | Ventricular septal defect" ], "symptoms_ja_list": [ "3-メチルグルタコン酸尿症 | MRSによる脳尿酸値上昇 | うっ血性心不全 | てんかん重積 | びまん性海綿状白質脳症 | アテトーゼ | エチルマロン酸尿 | オリーブ核橋小脳萎縮 | ケトアシドーシス | ジスキネジア | ジストニア | ネフローゼ症候群 | ヒプスアリスミア | ピルビン酸脱水素酵素 (PDH) 複合体活性の減少 | ミオパチー | ミトコンドリア呼吸鎖活性の減少 | ミトコンドリア複合体 I の活性減少 | ミトコンドリア複合体 II の活性減少 | ミトコンドリア複合体 III の活性減少 | ミトコンドリア複合体 IV の活性減少 | ミトコンドリア遺伝 | メチルマロン酸尿 | ロイコジストロフィー | 不随意運動 | 中枢神経脱髄 | 乳児スパスム | 乳児筋性筋緊張低下 | 乳酸尿 | 乳酸性アシドーシス | 低血糖 | 全般性発達遅滞 | 全身性筋緊張低下 | 前頭部多毛 | 反射亢進 | 呼吸パターンの異常 | 呼吸不全 | 嚥下障害 | 基底核のニューロン喪失 | 多動 | 多毛症 | 多発性関節拘縮 | 大耳 | 好中球減少症 | 子宮内成長遅滞 | 小脳萎縮 | 巣状 T2 高輝度基底核病変 | 巣状 T2 高輝度脳幹病変 | 常染色体潜性遺伝 | 心室中隔欠損 | 情動不安定 | 感覚性軸索ニューロパチー | 感音難聴 | 成長遅滞 | 成長障害 (成長不全) | 斜視 | 末梢神経ニューロパチー | 構音障害 | 歯状核の異常 | 汎アミノ酸尿 | 湿疹 | 異常な基底核 MRI シグナル強度 | 異常な脳幹 MRI シグナル強度 | 異常な視床MRI シグナル強度 | 異常な顔の形 | 痙性 | 痙性両麻痺 | 発作 | 発達退行 | 白内障 | 皮質脊髄路機能障害 | 眼振 | 眼瞼下垂 | 眼筋麻痺 | 知的障害 | 神経膠症 | 禿頭 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 肝不全 | 肝細胞壊死 | 肥大型心筋症 | 胃腸蠕動運動異常 | 脳梁低形成 | 脳梁無発生 of | 腎尿細管アシドーシス | 腎尿細管機能障害 | 舞踏病 | 舞踏病アテトーゼ | 色素性網膜症 | 血清乳酸増加 | 複合性有機酸尿 | 視神経の異常 | 視神経萎縮 | 貧血 | 進行性神経学的悪化 | 運動の異常 | 運動失調 | 遠位筋虚弱 | 錐体外路運動機能の異常 | 食餌摂取障害 | 骨格の異常 | 髄液乳酸増加 | 高い額 | 高アラニン血症 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2201424", "label_en": "Pansclerotic morphea", "label_ja": "Pansclerotic morphea", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_2201424", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100304", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200675", "label_en": "Branchio-oto-renal syndrome", "label_ja": "鰓耳腎症候群", "yomigana": "さいじじんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200675", "notificationNumber": "190", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [ "Abnormal lacrimal duct morphology | Abnormal middle ear morphology | Abnormal nasolacrimal system morphology | Abnormal pinna morphology | Abnormality of the inner ear | Abnormality of the middle ear | Abnormality of the middle ear ossicles | Abnormality of the outer ear | Aplasia/Hypoplasia of the cochlea | Atresia of the external auditory canal | Branchial anomaly | Branchial cyst | Branchial fistula | Branchial sinus | Cleft palate | Conductive hearing impairment | Dilatation of renal calices | Enlarged cochlear aqueduct | Enlarged vestibular aqueduct | Euthyroid goiter | Facial asymmetry | Facial palsy | Gustatory lacrimation | Hearing impairment | Hydronephrosis | Hypoplasia of the cochlea | Lacrimal duct aplasia | Lip pit | Lop ear | Micrognathia | Microtia | Mixed hearing impairment | Multicystic kidney dysplasia | Preauricular pit | Preauricular skin tag | Renal hypoplasia/aplasia | Renal insufficiency | Retrognathia | Sensorineural hearing impairment | Stenosis of the external auditory canal | Ureteropelvic junction obstruction | Vesicoureteral reflux" ], "symptoms_ja_list": [ "下顎後退 | 中耳の形態異常 | 中耳の異常 | 中耳耳小骨の異常 | 伝音難聴 | 内耳の異常 | 前庭水道拡大 | 口唇小孔 | 口蓋裂 | 味覚性流涙 | 垂耳 | 外耳の異常 | 外耳道狭窄 | 外耳道閉鎖 | 多嚢胞腎異形成 | 小耳 | 小顎 | 尿管腎盂接合部閉塞 | 巨大腎杯症 | 感音難聴 | 水腎症 | 涙管の異常 | 涙管無形成 | 混合性難聴 | 甲状腺機能正常性甲状腺腫 | 耳介の異常 | 耳介前小孔 | 耳介前皮膚肉柱 | 腎不全 | 腎低形成/無形成 | 膀胱尿管逆流 | 蝸牛低形成 | 蝸牛水道拡大 | 蝸牛無形成/低形成 | 難聴 | 顔面非対称 | 顔面麻痺 | 鰓奇形 | 鰓洞 | 鰓瘻 | 鰓膿疱 | 鼻涙管の異常" ] }, { "id": "NANDO:1200459", "label_en": "Megacystis-microcolon-intestinal hypoperistalsis syndrome", "label_ja": "巨大膀胱短小結腸腸管蠕動不全症", "yomigana": "きょだいぼうこうたんしょうけっちょうちょうかんぜんどうふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200459", "notificationNumber": "100", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201329", "label_en": "Type II biliary atresia", "label_ja": "II型胆道閉鎖症", "yomigana": "2がたたんどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201329", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200080", "label_en": "Pleuropulmonaryblastoma", "label_ja": "胸膜肺芽腫", "yomigana": "きょうまくはいがしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200080", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Autosomal dominant inheritance | Medulloblastoma | Pleuropulmonary blastoma | Rhabdomyosarcoma" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 横紋筋肉腫 | 胸膜肺芽腫 | 髄芽腫" ] }, { "id": "NANDO:1200849", "label_en": "Hepatic glycogen storage disease type IXc", "label_ja": "肝型糖原病IXc型", "yomigana": "かんがたとうげんびょう9しーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200849", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Autosomal recessive inheritance | Bile duct proliferation | Childhood onset | Cirrhosis | Elevated circulating hepatic transaminase concentration | Fasting hypoglycemia | Growth delay | Hepatomegaly | Hypertriglyceridemia | Hypoglycemia | Hypotonia | Increased circulating lactate concentration | Increased hepatic glycogen content | Infantile onset | Juvenile onset | Ketosis | Lactic acidosis | Motor delay | Postnatal growth retardation | Splenomegaly" ], "symptoms_ja_list": [ "ケトン症 | 乳酸性アシドーシス | 低血糖 | 常染色体潜性遺伝 | 成長遅滞 | 生後の成長遅滞 | 空腹時低血糖 | 筋緊張低下 | 肝グリコーゲン量増加 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝腫 | 胆管増殖 | 脾腫 | 血清乳酸増加 | 運動発達遅滞 | 高トリグリセリド血症" ] }, { "id": "NANDO:2200686", "label_en": "Combined deficiency of coagulation factors V and VIII", "label_ja": "先天性第VおよびVIII因子合併欠乏症", "yomigana": "せんてんせいだい5および8いんしがっぺいけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200686", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Bleeding with minor or no trauma | Bruising susceptibility | Epistaxis | Gastrointestinal hemorrhage | Gingival bleeding | Hematuria | Hyperlipidemia | Hyperuricemia | Intracranial hemorrhage | Joint hemorrhage | Menorrhagia | Prolonged bleeding after dental extraction | Prolonged bleeding after surgery | Prolonged partial thromboplastin time | Prolonged prothrombin time | Reduced coagulation factor V activity | Reduced factor VIII activity" ], "symptoms_ja_list": [ "プロトロンビン時間遷延 | 出血傾向 | 抜歯後の遷延性出血 | 月経痛 | 歯肉出血 | 第 V 因子活性の減少 | 第 VIII 因子活性の減少 | 胃腸出血 | 血尿 | 術後の遷延性出血 | 軽微な外傷または外傷なしでの出血 | 部分的トロンボプラスチン時間遷延 | 関節出血 | 頭蓋内出血 | 高尿酸血症 | 高脂血症 | 鼻出血" ] }, { "id": "NANDO:2200999", "label_en": "Ichthyosis-follicularis-atrichia-photophobia syndrome", "label_ja": "IFAP症候群", "yomigana": "あいえふえーぴーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200999", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [ "Absent eyebrow | Absent eyelashes | Aganglionic megacolon | Alopecia | Atrial septal defect | Brain atrophy | Butterfly vertebrae | Chiari malformation | Choanal stenosis | Cleft palate | Congenital onset | Corneal neovascularization | Cryptorchidism | Death in childhood | Death in infancy | Dry skin | Dystrophic fingernails | Ectodermal dysplasia | Ectrodactyly | Eczematoid dermatitis | Erythroderma | Follicular hyperkeratosis | Global developmental delay | Growth delay | Hearing impairment | Hip dislocation | Hydromyelia | Hyperkeratosis | Hypertension | Hypohidrosis | Hypoplasia of the corpus callosum | Hypospadias | Inguinal hernia | Intellectual disability | Keratitis | Microcephaly | Motor delay | Multicystic kidney dysplasia | Nail dysplasia | Nail dystrophy | Neonatal death | Oligohydramnios | Olivopontocerebellar atrophy | Omphalocele | Opacification of the corneal stroma | Photophobia | Postaxial hand polydactyly | Ptosis | Recurrent corneal erosions | Recurrent skin infections | Recurrent upper respiratory tract infections | Renal agenesis | Renal dysplasia | Scoliosis | Seizure | Short stature | Sparse scalp hair | Subungual hyperkeratosis | Umbilical hernia | Unilateral chest hypoplasia | Unilateral renal agenesis | Ventriculomegaly | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | X連鎖潜性遺伝 | オリーブ核橋小脳萎縮 | 乾いた皮膚 | 低身長 | 停留精巣 | 側弯 | 全般性発達遅滞 | 反復性上気道感染症 | 反復性皮膚感染症 | 反復性角膜びらん | 口蓋裂 | 外胚葉形成不全 | 多嚢胞腎異形成 | 小頭 | 尿道下裂 | 後鼻孔狭窄 | 心房中隔欠損 | 成長遅滞 | 指爪ジストロフィー | 欠指 | 毛包過角化症 | 水脊髄症 | 減汗症 | 湿疹 | 無神経節性巨大結腸 | 爪ジストロフィー | 爪下過角化症 | 爪異形成 | 片側性胸郭低形成 | 片側性腎無発生 | 疎な頭髪 | 発作 | 眉毛欠損 | 眼瞼下垂 | 睫毛欠損 | 知的障害 | 禿頭 | 紅皮症 | 羊水過少 | 羞明 | 股関節脱臼 | 脳室拡大 | 脳梁低形成 | 脳萎縮 | 腎無発生 | 腎異形成 | 臍ヘルニア | 臍帯ヘルニア | 蝶形脊椎骨 | 角膜炎 | 角膜血管新生 | 角膜間質混濁形成 | 軸後性多指症 | 運動発達遅滞 | 過角化症 | 難聴 | 高血圧 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200834", "label_en": "Glycogen storage diseases type XII", "label_ja": "筋型糖原病XII型", "yomigana": "きんがたとうげんびょう12がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200834", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Acute kidney injury | Anemia | Arrhythmia | Autosomal recessive inheritance | Cholecystitis | Cholelithiasis | Decreased muscle mass | Delayed puberty | Delayed speech and language development | EMG: myopathic abnormalities | Elevated circulating creatine kinase activity | Elevated creatine kinase after exercise | Epicanthus | Exercise-induced rhabdomyolysis | Fever | Growth delay | Hemoglobinuria | Hemolytic anemia | Hepatomegaly | Hyperbilirubinemia | Hyperkalemia | Hypotonia | Increased variability in muscle fiber diameter | Infantile onset | Intellectual disability | Jaundice | Low posterior hairline | Motor delay | Muscle fiber atrophy | Muscle fiber splitting | Muscle weakness | Myalgia | Myoglobinuria | Myopathy | Nonspherocytic hemolytic anemia | Normochromic anemia | Normocytic anemia | Ptosis | Reduced circulating aldolase concentration | Short neck | Short stature | Skeletal myopathy | Specific learning disability | Splenomegaly | Viral infection-induced rhabdomyolysis" ], "symptoms_ja_list": [ "アルドラーゼ減少 | ウイルス感染誘発性横紋筋融解 | ヘモグロビン尿 | ミオグロビン尿 | ミオパチー | 不整脈 | 低身長 | 内眼角贅皮 | 常染色体潜性遺伝 | 後部毛髪線低位 | 思春期遅発 | 急性腎外傷 | 性色素性貧血 | 成長遅滞 | 正球性貧血 | 溶血性貧血 | 特異的学習障害 | 発熱 | 発語および言語発達遅延 | 眼瞼下垂 | 知的障害 | 短い頸部 | 筋痛 | 筋緊張低下 | 筋線維断裂 | 筋線維直径の多様性増加 | 筋線維萎縮 | 筋虚弱 | 筋量減少 | 筋電図: ミオパチー異常 | 肝腫 | 胆嚢炎 | 胆石症 | 脾腫 | 血清 creatine phosphokinase上昇 | 貧血 | 運動後の creatine kinase 上昇 | 運動発達遅滞 | 運動誘発性横紋筋融解 | 非球状赤血球性溶血性貧血 | 骨格筋ミオパチー | 高カリウム血症 | 高ビリルビン血症 | 黄疸" ] }, { "id": "NANDO:1200532", "label_en": "Dystonia 19", "label_ja": "DYT19ジストニア", "yomigana": "でぃーわいてぃー19じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200532", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal dominant inheritance | Chorea | Dyskinesia | Dystonia | Involuntary movements | Paroxysmal dyskinesia" ], "symptoms_ja_list": [ "ジスキネジア | ジストニア | 不随意運動 | 常染色体顕性遺伝 | 発作性ジスキネジア | 舞踏病" ] }, { "id": "NANDO:2201188", "label_en": "Alpha-mannosidosis, infantile form", "label_ja": "乳児型α - マンノシドーシス", "yomigana": "にゅうじがたあるふぁまんのしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201188", "notificationNumber": "128", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal sella turcica morphology | Abnormal skeletal morphology | Anxiety | Aortic regurgitation | Astigmatism | Ataxia | Atypical behavior | Avascular necrosis | Axial hypotonia | Bilateral coxa valga | Bilateral talipes equinovarus | Brachycephaly | Broad forehead | Cataract | Cerebellar atrophy | Cerebral cortical atrophy | Chiari malformation | Clumsiness | Coarse facial features | Communicating hydrocephalus | Confusion | Corneal opacity | Cortical thickening of long bone diaphyses | Cranial hyperostosis | Craniosynostosis | Delayed speech and language development | Delusion | Depressed nasal bridge | Depression | Disproportionate tall stature | Drowsiness | Dysostosis multiplex | Facial hypotonia | Facial shape deformation | Flat face | Genu valgum | Hallucinations | Hepatosplenomegaly | Highly arched eyebrow | Hypermetropia | Hypertelorism | Hypoplastic inferior ilia | Hypotonia | Immunodeficiency | Intellectual disability | Joint hypermobility | Joint stiffness | Loss of speech | Macrocephaly | Macroglossia | Mandibular prognathia | Mild intellectual disability | Mitral regurgitation | Mixed hearing impairment | Motor delay | Myopathy | Myopia | Oligosacchariduria | Optic disc pallor | Osteolysis | Osteopenia | Otitis media | Pancytopenia | Pectus carinatum | Pectus excavatum | Platyspondyly | Pneumonia | Prominent forehead | Proptosis | Recurrent infections | Recurrent urinary tract infections | Sensorineural hearing impairment | Short attention span | Short neck | Soft skin | Spastic paraplegia | Specific learning disability | Strabismus | Subcortical cerebral atrophy | Talipes valgus | Thickened calvaria | Thickened ribs | Umbilical hernia | Widely spaced teeth" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | うつ | はと胸 | オリゴ糖尿 | トルコ鞍の異常 | ミオパチー | 下顎突出 | 不器用 | 不均衡型高身長 | 不安 | 両側性内反尖足 | 両側性外反股 | 両眼隔離 | 中耳炎 | 乱視 | 交通性水頭症 | 体幹の筋緊張低下 | 僧帽弁逆流 | 免疫不全 | 分厚い頭蓋冠 | 反復性尿路感染症 | 反復性感染症 | 外反膝 | 外反足 | 多発性異骨症 | 大動脈逆流 | 大脳皮質萎縮 | 大頭 | 妄想 | 小脳萎縮 | 巨舌 | 幅広い額 | 平坦な顔 | 幻覚 | 感音難聴 | 扁平脊椎 | 斜視 | 柔らかい皮膚 | 歯間隔離 | 汎血球減少症 | 混合性難聴 | 漏斗胸 | 無菌性壊死 | 特異的学習障害 | 痙性対麻痺 | 発語および言語発達遅延 | 発語喪失 | 白内障 | 皮質下 大脳萎縮 | 目立つ額 | 眠気 | 眼球突出 | 知的障害 | 知的障害", "軽度 | 短い注意期間 | 短い頸部 | 短頭 | 筋緊張低下 | 粗な顔貌 | 肋骨肥厚 | 肝脾腫 | 肺炎 | 腸骨下部低形成 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 行動異常 | 視神経杯蒼白 | 角膜混濁 | 近視 | 運動失調 | 運動発達遅滞 | 遠視 | 錯乱 | 長管骨骨幹の皮質肥厚 | 関節拘縮 | 関節過動 | 頭蓋合骨症 | 頭蓋骨過骨症 | 顔面変形 | 顔面筋緊張低下 | 骨格形態の異常 | 骨減少症 | 骨融解 | 高位の弓形眉毛 | 高度/補酵素活性異常" ] }, { "id": "NANDO:1201003", "label_en": "Congenital tracheal stenosis", "label_ja": "先天性気管狭窄症", "yomigana": "せんてんせいきかんきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201003", "notificationNumber": "330", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal earlobe morphology | Abnormal gastrointestinal tract morphology | Abnormal lung lobation | Abnormal lung morphology | Abnormal stomach morphology | Abnormal tracheal morphology | Abnormal tracheobronchial morphology | Abnormality of the genitourinary system | Abnormality of the kidney | Abnormality of the nervous system | Abnormality of the ureter | Anal atresia | Anomalous origin of left pulmonary artery from ascending aorta | Cyanosis | Duodenal atresia | Duodenal stenosis | Dyspnea | Fetal ascites | Hypoplastic left ventricle | Meckel diverticulum | Neonatal asphyxia | Oligohydramnios | Patent ductus arteriosus | Polyhydramnios | Preductal coarctation of the aorta | Pulmonary artery atresia | Respiratory distress | Tracheoesophageal fistula | Upper airway obstruction | Ventricular septal defect | Weak cry" ], "symptoms_ja_list": [ "Meckel 憩室 | チアノーゼ | 上気道閉塞 | 動脈管開存症 | 十二指腸狭窄 | 十二指腸閉鎖 | 呼吸困難 | 呼吸窮迫 | 大動脈の管前縮窄 | 尿管異常 | 左心低形成 | 左肺動脈の上行大動脈からの起始異常 | 弱い泣き声 | 循環器系の形態異常 | 心室中隔欠損 | 新生児仮死 | 気管の異常 | 気管気管支の異常 | 気管食道瘻 | 泌尿生殖器異常 | 神経系の異常 | 羊水過多 | 羊水過少 | 耳朶の異常 | 肺の異常 | 肺分葉の異常 | 肺動脈閉鎖 | 胃の異常 | 胃腸管の形態異常 | 胎児腹水 | 腎異常 | 鎖肛" ] }, { "id": "NANDO:2200092", "label_en": "Pineocytoma", "label_ja": "松果体腫", "yomigana": "しょうかたいしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200092", "notificationNumber": "54", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Abnormal eyelid morphology | Cognitive impairment | Episodic ataxia | Gait disturbance | Headache | Hearing abnormality | Hydrocephalus | Increased CSF protein concentration | Increased intracranial pressure | Memory impairment | Nausea and vomiting | Nystagmus" ], "symptoms_ja_list": [ "吐気と 嘔吐 | 歩行障害 | 水頭症 | 眼振 | 眼瞼の異常 | 聴覚異常 | 記憶障害 | 認知障害 | 運動失調エピソード | 頭痛 | 頭蓋内圧の増加 | 髄液タンパクの増加" ] }, { "id": "NANDO:2200162", "label_en": "Supernumerary kidney", "label_ja": "過剰腎", "yomigana": "かじょうじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200162", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200626", "label_en": "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "label_ja": "IBID", "yomigana": "あいびーあいでぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200626", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201390", "label_en": "ADTKD-SEC61A1", "label_ja": "ADTKD-SEC61A1", "yomigana": "えーでぃーてぃーけーでぃーえすいーしー61えー1", "url": "http://nanbyodata.jp/ontology/NANDO_2201390", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100298", "symptoms_en_list": [ "Acute kidney injury | Anemia | Autosomal dominant inheritance | Childhood onset | Chronic constipation | Chronic kidney disease | Decreased glomerular filtration rate | Decreased total leukocyte count | Decreased total neutrophil count | Elevated circulating creatinine concentration | Elevated circulating parathyroid hormone level | Episodic vomiting | Focal segmental glomerulosclerosis | Gout | Hematuria | Hyperechogenic kidneys | Hyperkalemia | Hypertension | Hyperuricemia | Impaired renal concentrating ability | Impaired renal uric acid clearance | Increased blood urea nitrogen | Infantile onset | Intrauterine growth retardation | Juvenile onset | Late onset | Mild global developmental delay | Neonatal onset | Nephropathy | Oligohydramnios | Progressive | Proteinuria | Recurrent cutaneous abscess formation | Recurrent infections | Renal cyst | Renal dysplasia | Renal sodium wasting | Retrognathia | Short stature | Small for gestational age | Stage 5 chronic kidney disease | Triangular face | Young adult onset" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | 三角形の顔 | 下顎後退 | 低身長 | 反復性感染症 | 反復性皮膚膿瘍形成 | 嘔吐エピソード | 在胎月齢より小さい児 | 好中球減少症 | 子宮内成長遅滞 | 巣状分節性糸球体硬化症 | 常染色体顕性遺伝 | 循環性副甲状腺ホルモン(PTH) 値上昇 | 急性腎外傷 | 慢性便秘 | 慢性腎疾患 | 白血球減少症 | 糸球体濾過率減少 | 羊水過少 | 腎嚢胞 | 腎尿酸クリアランス障害 | 腎性ナトリウム喪失 | 腎濃縮能障害 | 腎異形成 | 腎症 | 蛋白尿 | 血中尿素窒素(BUN)増加 | 血尿 | 血清クレアチン症状 | 貧血 | 軽度の全般性発達遅滞 | 通風 | 高カリウム血症 | 高尿酸血症 | 高血圧 | 高輝度(エコー)腎" ] }, { "id": "NANDO:1200945", "label_en": "Juvenile bilateral sensorineural hearing loss", "label_ja": "若年発症型両側性感音難聴", "yomigana": "じゃくねんはっしょうがたりょうそくせいかんおんなんちょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200945", "notificationNumber": "304", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200416", "label_en": "Idiopathic interstitial pneumonia", "label_ja": "特発性間質性肺炎", "yomigana": "とくはつせいかんしつせいはいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200416", "notificationNumber": "85", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200182", "label_en": "Ectopic ureteral orifice", "label_ja": "異所開口尿管", "yomigana": "いしょかいこうにょうかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200182", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100025", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201192", "label_en": "Sialidosis type 2", "label_ja": "シアリドーシスII型", "yomigana": "しありどーしす2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201192", "notificationNumber": "117", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal bone marrow cell morphology | Abnormal facial shape | Abnormal macular morphology | Abnormality of metabolism/homeostasis | Abnormality of movement | Abnormality of the skeletal system | Ascites | Ataxia | Autosomal recessive inheritance | Bone-marrow foam cells | Cardiomegaly | Cardiomyopathy | Cataract | Cherry red spot of the macula | Coarse facial features | Corneal opacity | Death in childhood | Delayed speech and language development | Dysmetria | Dysostosis multiplex | Dysphonia | Dyspnea | Epiphyseal stippling | Facial edema | Flexion contracture | Generalized hypotonia | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrops fetalis | Hyperreflexia | Hypotonia | Increased urinary O-linked sialopeptides | Infantile onset | Inguinal hernia | Intellectual disability | Kyphosis | Muscle weakness | Myoclonus | Nephropathy | Nephrotic syndrome | Nystagmus | Osteoporosis | Pectus carinatum | Pedal edema | Pericardial effusion | Progressive visual loss | Proteinuria | Renal insufficiency | Seizure | Sensorineural hearing impairment | Severe intellectual disability | Short stature | Short thorax | Skeletal muscle atrophy | Slurred speech | Splenomegaly | Tremor | Umbilical hernia | Urinary excretion of sialylated oligosaccharides | Vacuolated lymphocytes" ], "symptoms_ja_list": [ "はと胸 | シアル化オリゴ糖の尿中排泄 | ネフローゼ症候群 | ミオクローヌス | 不明瞭言語 | 代謝/ホメオスターシスの異常 | 低身長 | 全般性発達遅滞 | 全身性筋緊張低下 | 反射亢進 | 呼吸困難 | 多発性異骨症 | 尿中 O-linked sialopeptides 増加 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弯 | 心外膜滲出液 | 心拡大 | 心筋症 | 感音難聴 | 振戦 | 浮腫 (下肢) | 測定障害 | 異常な顔の形 | 発作 | 発語および言語発達遅延 | 発音障害 | 白内障 | 眼振 | 知的障害 | 知的障害", "重度 | 短い胸郭 | 空胞化リンパ球 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗な顔貌 | 肝腫 | 胎児水腫 | 脾腫 | 腎不全 | 腎症 | 腹水 | 臍ヘルニア | 蛋白尿 | 角膜混濁 | 進行性視力喪失 | 運動の異常 | 運動失調 | 難聴 | 顔面浮腫 | 骨格の異常 | 骨端点状石灰化 | 骨粗鬆症 | 骨髄泡沫細胞 | 骨髄細胞形態の異常 | 黄斑のチェリーレッド斑 | 黄斑の異常 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201055", "label_en": "Systemic juvenile idiopathic arthritis", "label_ja": "若年性特発性関節炎（全身型）", "yomigana": "じゃくねんせいとくはつせいかんせつえん（ぜんしんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201055", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [ "Abdominal pain | Anterior uveitis | Arthralgia | Arthritis | Autoimmunity | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Elevated pulmonary artery pressure | Fever | Glomerulonephritis | Growth delay | Hepatomegaly | Increased circulating ferritin concentration | Joint swelling | Juvenile rheumatoid arthritis | Lymphadenopathy | Osteopenia | Pericarditis | Pleural effusion | Skin rash | Splenomegaly" ], "symptoms_ja_list": [ "CRP 上昇 | リンパ節腫大 | 前部ブドウ膜炎 | 心外膜炎 | 成長遅滞 | 発熱 | 皮膚発疹 | 糸球体腎炎 | 肝腫 | 肺動脈圧上昇 | 胸膜滲出液 | 脾腫 | 腹痛 | 自己免疫 | 若年性関節リウマチ | 血清フェリチン増加 | 赤沈値上昇 | 関節炎 | 関節痛 | 関節腫脹 | 骨減少症" ] }, { "id": "NANDO:1200433", "label_en": "Autosomal dominant retinitis pigmentosa", "label_ja": "網膜色素変性症（常染色体優性遺伝型）", "yomigana": "もうまくしきそへんせいしょう（じょうせんしょくたいゆうせいいでんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200433", "notificationNumber": "90", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201172", "label_en": "Mucopolysaccharidosis type II, intermediate form", "label_ja": "中間型ムコ多糖症II型", "yomigana": "ちゅうかんがたむこたとうしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201172", "notificationNumber": "130", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201136", "label_en": "Neonatal-onset carnitine-acylcarnitine translocase deficiency", "label_ja": "新生児期発症型カルニチンアシルカルニチントランスロカーゼ欠損症", "yomigana": "しんせいじきはっしょうがたかるにちんあしるかるにちんとらんすろかーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201136", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200780", "label_en": "Vitamin D-resistant osteomalacia", "label_ja": "ビタミンD抵抗性骨軟化症", "yomigana": "びたみんでぃーていこうせいこつなんかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200780", "notificationNumber": "238", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201406", "label_en": "Epilepsy with myoclonic absence", "label_ja": "ミオクロニー欠神てんかん", "yomigana": "みおくろにーけっしんてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_2201406", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100061", "label_en": "Cardiac tumor", "label_ja": "心臓腫瘍", "yomigana": "しんぞうしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2100061", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201463", "label_en": "Short-segment Hirschsprung's disease", "label_ja": "直腸下部型ヒルシュスプルング病", "yomigana": "ちょくちょうかぶがたひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201463", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100275", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Aganglionic megacolon | Constipation | Diarrhea | Enterocolitis | Failure to thrive in infancy | Feeding difficulties | Functional abnormality of the gastrointestinal tract | Growth delay | Intestinal obstruction | Nausea and vomiting | Polyhydramnios | Sepsis | Short stature | Weight loss" ], "symptoms_ja_list": [ "下痢 | 乳児期の成長障害 (成長不全) | 低身長 | 体重喪失 | 便秘 | 吐気と 嘔吐 | 小腸結腸炎 | 成長遅滞 | 敗血症 | 無神経節性巨大結腸 | 羊水過多 | 胃腸管機能異常 | 腸閉塞 | 腹痛 | 腹部膨満 | 食餌摂取障害" ] }, { "id": "NANDO:1200113", "label_en": "Sly syndrome, intermediate form", "label_ja": "Sly病（中間型）", "yomigana": "すらいびょう（ちゅうかんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200113", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200255", "label_en": "Type III Takayasu arteritis", "label_ja": "高安動脈炎（III型）", "yomigana": "たかやすどうみゃくえん（3がた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200255", "notificationNumber": "40", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201517", "label_en": "Congenital esophageal atresia", "label_ja": "先天性食道閉鎖症", "yomigana": "せんてんせいしょくどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201517", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100308", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal external genitalia morphology | Abnormal facial shape | Abnormal gastrointestinal tract morphology | Abnormal respiratory system morphology | Abnormal vertebral morphology | Abnormality of the ear | Abnormality of the genitourinary system | Abnormality of the urinary system | Absence of stomach bubble on fetal sonography | Anorectal anomaly | Aspiration | Barrett esophagus | Bronchitis | Choanal atresia | Chronic pulmonary obstruction | Cleft palate | Coarctation of aorta | Coloboma | Cyanosis | Duodenal atresia | Dysphagia | Episodic respiratory distress | Esophageal atresia | Esophagitis | Excessive salivation | Failure to thrive in infancy | Feeding difficulties in infancy | Gastroesophageal reflux | Gastrointestinal carcinoma | Gastrointestinal dysmotility | Growth delay | Hearing impairment | Hypertonia | Hypotonia | Immunologic hypersensitivity | Intestinal malrotation | Laryngeal cleft | Laryngotracheomalacia | Maternal diabetes | Omphalocele | Oral aversion | Pallor | Polyhydramnios | Pulmonary hypoplasia | Pyloric stenosis | Recurrent respiratory infections | Renal agenesis | Respiratory distress | Restrictive ventilatory defect | Scoliosis | Small for gestational age | Subglottic stenosis | Tetralogy of Fallot | Tracheoesophageal fistula | Ventricular septal defect | Vocal cord paresis | Vomiting" ], "symptoms_ja_list": [ "Barrett 食道 | Fallot 四徴症 | コロボーマ | チアノーゼ | 乳児期の成長障害 (成長不全) | 側弯 | 免疫学的過敏性 | 十二指腸閉鎖 | 反復性呼吸器感染症 | 口嫌悪 | 口蓋裂 | 呼吸器運動性繊毛の異常 | 呼吸窮迫 | 呼吸窮迫エピソード | 喉頭気管軟化症 | 喉頭裂 | 嘔吐 | 嚥下障害 | 在胎月齢より小さい児 | 声帯不全麻痺 | 声門下狭窄 | 外性器異常 | 大動脈縮窄 | 尿路異常 | 幽門狭窄 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 慢性閉塞性肺疾患 | 成長遅滞 | 拘束性肺疾患 | 母体糖尿病 | 気管支炎 | 気管食道瘻 | 泌尿生殖器異常 | 異常な顔の形 | 筋緊張亢進 | 筋緊張低下 | 羊水過多 | 耳の異常 | 肛門直腸奇形 | 肺低形成 | 胃腸癌 | 胃腸管の形態異常 | 胃腸蠕動運動異常 | 胃食道逆流 | 胎児エコーでの胃気泡欠損 | 脊椎の異常 | 腎無発生 | 腸回転異常 | 臍帯ヘルニア | 蒼白 | 誇張された唾液分泌 | 誤嚥 | 難聴 | 食道炎 | 食道閉鎖 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:2200351", "label_en": "Ectopic ACTH syndrome", "label_ja": "異所性副腎皮質刺激ホルモン産生症候群", "yomigana": "いしょせいふくじんひしつしげきほるもんさんせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200351", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100127", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100057", "label_en": "Dilated cardiomyopathy", "label_ja": "拡張型心筋症", "yomigana": "かくちょうがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100057", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201136", "label_en": "Atypical Behçet’s disease", "label_ja": "特殊型ベーチェット病", "yomigana": "とくしゅがたべーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201136", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200158", "label_en": "Classical Fabry disease", "label_ja": "古典型ファブリー病", "yomigana": "こてんがたふぁぶりーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200158", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201339", "label_en": "Pfeiffer syndrome (metopic synostosis)", "label_ja": "ファイファー症候群（前頭縫合）", "yomigana": "ふぁいふぁーしょうこうぐん（ぜんとうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201339", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200600", "label_en": "Acute encephalitis with refractory, repetitive partial seizures", "label_ja": "難治頻回部分発作重積型急性脳炎", "yomigana": "なんちひんかいぶぶんほっさじゅうせきがたきゅうせいのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200600", "notificationNumber": "153", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Atypical behavior | Autoimmunity | Cough | Developmental regression | EEG abnormality | Fever | Focal-onset seizure | Headache | Lethargy | Myalgia | Sinusitis | Sudden death" ], "symptoms_ja_list": [ "副鼻腔炎 | 外層 | 無気力 | 焦点性発作 | 発熱 | 発達退行 | 筋痛 | 脳波異常 | 自己免疫 | 行動異常 | 頭痛" ] }, { "id": "NANDO:2200067", "label_en": "Embryonal carcinoma", "label_ja": "胎児性癌", "yomigana": "たいじせいがん", "url": "http://nanbyodata.jp/ontology/NANDO_2200067", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200362", "label_en": "MyD88 deficiency", "label_ja": "MyD88欠損症", "yomigana": "みっど88 / まいでぃー88けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200362", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Autosomal recessive inheritance | Decreased total B cell count | Decreased total T cell count | Lymphadenitis | Recurrent meningitis | Recurrent skin infections | Sepsis | Septic arthritis" ], "symptoms_ja_list": [ "B リンパ球減少症 | T リンパ球減少症 | リンパ節炎 | 反復性皮膚感染症 | 反復性髄膜炎 | 常染色体潜性遺伝 | 敗血症 | 敗血症性関節炎" ] }, { "id": "NANDO:2200027", "label_en": "Extranodal NK/T-cell lymphoma, nasal type", "label_ja": "節外性NK/T細胞リンパ腫-鼻型", "yomigana": "せつがいせいえぬけー/てぃーさいぼうりんぱしゅ-はながた", "url": "http://nanbyodata.jp/ontology/NANDO_2200027", "notificationNumber": "91", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200107", "label_en": "Morquio syndrome type B", "label_ja": "モルキオ症候群B型", "yomigana": "もるきおしょうこうぐんびーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200107", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Aortic valve stenosis | Ataxia | Autosomal recessive inheritance | Bilateral talipes equinovarus | Carious teeth | Cervical myelopathy | Cervical subluxation | Chondroitin sulfate excretion in urine | Coarse facial features | Constricted iliac wing | Corneal opacity | Coxa valga | Decreased beta-galactosidase activity | Disproportionate short-trunk short stature | Dysostosis multiplex | Epiphyseal deformities of tubular bones | Flaring of rib cage | Genu valgum | Grayish enamel | Hearing impairment | Hepatomegaly | Hip dysplasia | Hyperlordosis | Hypoplasia of the capital femoral epiphysis | Hypoplasia of the odontoid process | Inguinal hernia | Intellectual disability | Intimal thickening in the coronary arteries | Joint hypermobility | Joint stiffness | Juvenile onset | Keratan sulfate excretion in urine | Kyphosis | Mandibular prognathia | Metaphyseal widening | Mitral regurgitation | Opacification of the corneal stroma | Osteoporosis | Ovoid vertebral bodies | Platyspondyly | Pointed proximal second through fifth metacarpals | Prominent sternum | Recurrent upper respiratory tract infections | Restrictive ventilatory defect | Scoliosis | Ulnar deviation of the wrist | Wide mouth | Widely spaced teeth" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | 下顎突出 | 不均衡性短躯低身長 | 両側性内反尖足 | 側弯 | 僧帽弁逆流 | 冠状動脈の内膜肥厚 | 前弯 | 卵形椎体骨 | 反復性上気道感染症 | 外反股 | 外反膝 | 多発性異骨症 | 大動脈弁狭窄 | 大腿骨骨頭骨端低形成 | 尖った第2-第4中手骨近位 | 尿中硫酸ケラタン排泄 | 尿中硫酸コンドロイチン排泄 | 常染色体潜性遺伝 | 幅広い口 | 後弯 | 扁平脊椎 | 手関節の尺側偏位 | 拘束性肺疾患 | 歯状突起低形成 | 歯間隔離 | 灰色のエナメル質 | 目立つ胸骨 | 知的障害 | 管状骨骨端の変形 | 粗な顔貌 | 肋骨胸郭のフレア | 肝腫 | 股関節異形成 | 腸骨翼狭窄 | 角膜混濁 | 角膜間質混濁形成 | 運動失調 | 関節拘縮 | 関節過動 | 難聴 | 頚椎亜脱臼 | 頚髄ミエロパチー | 骨幹端拡大 | 骨粗鬆症 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2200915", "label_en": "Familial adenomatous polyposis", "label_ja": "家族性腺腫性ポリポーシス", "yomigana": "かぞくせいせんしゅせいぽりぽーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200915", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100257", "symptoms_en_list": [ "Abnormal cementum morphology | Abnormality of the dentition | Abnormality of the thyroid gland | Adenomatous colonic polyposis | Adrenocortical adenoma | Angiofibromas | Astrocytoma | Biliary tract obstruction | Colon cancer | Colorectal polyposis | Congenital hypertrophy of retinal pigment epithelium | Constipation | Diarrhea | Duodenal polyposis | Ependymoma | Epidermoid cyst | Eruption failure | Fibroma | Gastrointestinal desmoid tumor | Goiter | Hepatoblastoma | Hypothyroidism | Lipoma | Localized skin lesion | Medulloblastoma | Multiple gastric polyps | Neoplasm of the adrenal gland | Neoplasm of the gallbladder | Neoplasm of the gastrointestinal tract | Odontoma | Osteoma | Pancreatic adenocarcinoma | Pancreatitis | Papillary thyroid carcinoma | Pituitary adenoma | Stomach cancer | Supernumerary tooth | Thyroiditis" ], "symptoms_ja_list": [ "セメント質の異常 | 上衣腫 | 下垂体腺腫 | 下痢 | 便秘 | 先天性網膜色素上皮肥大 | 副腎新生物 | 副腎皮質腺腫 | 十二指腸ポリープ症 | 多発性胃ポリープ | 星状細胞腫 | 歯の異常 | 歯数増加 | 歯未萠出 | 歯牙腫 | 甲状腺乳頭癌 | 甲状腺機能低下症 | 甲状腺炎 | 甲状腺異常 | 甲状腺腫 | 結腸癌 | 結腸直腸ポリープ | 線維腫 | 肝芽腫 | 胃癌 | 胃腸管新生物 | 胆嚢新生物 | 胆管閉塞 | 脂肪腫 | 腺腫性結腸ポリープ症 | 膵炎 | 膵腺癌 | 血管線維腫 | 限局性皮膚病変 | 類腱腫 | 類表皮嚢胞 | 骨腫 | 髄芽腫" ] }, { "id": "NANDO:2100170", "label_en": "Disorder of neurotransmitter metabolism and transport", "label_ja": "神経伝達物質異常症", "yomigana": "しんけいでんたつぶっしついじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100170", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200697", "label_en": "Truncus arteriosus communis type IV", "label_ja": "総動脈幹遺残症IV型", "yomigana": "そうどうみゃくかんいざんしょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200697", "notificationNumber": "207", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200048", "label_en": "Osteosarcoma", "label_ja": "骨肉腫", "yomigana": "こつにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200048", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201118", "label_en": "Isovaleric acidemia, chronic progressive form", "label_ja": "慢性進行型イソ吉草酸血症", "yomigana": "まんせいしんこうがたいそきっそうさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201118", "notificationNumber": "95", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200313", "label_en": "Acquired hypopituitarism", "label_ja": "後天性下垂体機能低下症", "yomigana": "こうてんせいかすいたいきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200313", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100110", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200167", "label_en": "Adolescent cerebral adrenoleukodystrophy", "label_ja": "思春期大脳型副腎白質ジストロフィー", "yomigana": "ししゅんきだいのうがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200167", "notificationNumber": "20", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200453", "label_en": "Right-sided ulcerative colitis", "label_ja": "潰瘍性大腸炎（右側型）", "yomigana": "かいようせいだいちょうえん（みぎがわがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200453", "notificationNumber": "97", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200756", "label_en": "Carney complex", "label_ja": "カーニー複合", "yomigana": "かーにーふくごう", "url": "http://nanbyodata.jp/ontology/NANDO_1200756", "notificationNumber": "232", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abdominal obesity | Abnormal hard palate morphology | Abnormal morphology of female internal genitalia | Abnormal sperm motility | Atypical behavior | Atypical nevi in non-sun exposed areas | Blue nevus | Bruising susceptibility | Cardiac myxoma | Congestive heart failure | Decreased fertility in males | Dilatation of the cerebral artery | Elevated circulating growth hormone concentration | Esophageal neoplasm | Euthyroid multinodular goiter | Fibroadenoma of the breast | Follicular thyroid carcinoma | Gonadal neoplasm | Growth abnormality | Gynecomastia | Hepatocellular carcinoma | Hirsutism | Hypertension | Increased body weight | Increased circulating cortisol level | Increased circulating prolactin concentration | Leydig cell neoplasia | Macroorchidism | Multiple cafe-au-lait spots | Multiple lentigines | Muscle weakness | Neoplasm of the breast | Neoplasm of the pancreas | Neoplasm of the pharynx | Neoplasm of the rectum | Neoplasm of the stomach | Nodular changes affecting the eyelids | Oligozoospermia | Ovarian cyst | Ovarian serous cystadenoma | Papillary thyroid carcinoma | Pigmented micronodular adrenocortical disease | Pituitary growth hormone cell adenoma | Precocious puberty | Schwannoma | Sertoli cell neoplasm | Spotty hyperpigmentation | Striae distensae | Stroke | Tall stature | Testicular neoplasm | Thromboembolism | Thyroid carcinoma | Tongue nodules" ], "symptoms_ja_list": [ "Leydig 細胞新生物 | Sertoli 細胞新生物 | うっ血性心不全 | シュワン細胞腫 | プロラクチン過剰症 | 下垂体成長ホルモン細胞腺腫 | 乏精子症 | 乳房新生物 | 乳房線維腫 | 伸展線 | 体重増加 | 出血傾向 | 卒中 | 卵巣嚢胞 | 卵巣漿液性嚢胞腺腫 | 咽頭新生物 | 多毛 | 多発性カフェオーレ斑 | 多発性黒子 | 大脳動脈瘤 | 太陽にさらされていない領域の非典型的母斑 | 女性内性器異常 | 女性型乳房 | 巨大精巣 | 循環性コルチゾール 値増加 | 心粘液腫 | 思春期早発 | 性腺新生物 | 成長ホルモン過剰症 | 成長異常 | 斑状高色素 | 濾胞性甲状腺癌 | 甲状腺乳頭癌 | 甲状腺機能正常性多結節性甲状腺腫 | 甲状腺癌 | 男性の妊孕性減少 | 直腸新生物 | 眼瞼の結節性変化 | 硬口蓋の異常 | 筋虚弱 | 精子運動異常 | 精巣新生物 | 肝細胞癌 | 胃新生物 | 腹部肥満 | 膵新生物 | 舌結節 | 色素性小結節性副腎皮質疾患 | 血栓塞栓症 | 行動異常 | 青色母斑 | 食道新生物 | 高血圧 | 高身長" ] }, { "id": "NANDO:2100014", "label_en": "Familial juvenile hyperuricemic nephropathy", "label_ja": "家族性若年性高尿酸血症性腎症", "yomigana": "かぞくせいじゃくねんせいこうにょうさんけっしょうせいじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100014", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200891", "label_en": "Congenital cytomegalovirus infection", "label_ja": "先天性サイトメガロウイルス感染症", "yomigana": "せんてんせいさいとめがろういるすかんせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200891", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100243", "symptoms_en_list": [ "Abnormality of coagulation | Anemia | Cerebral calcification | Chorioretinitis | Conjugated hyperbilirubinemia | Elevated circulating hepatic transaminase concentration | Hepatitis | Hepatomegaly | Intellectual disability | Intrauterine growth retardation | Jaundice | Microcephaly | Optic atrophy | Petechiae | Retinal hemorrhage | Seizure | Sensorineural hearing impairment | Splenomegaly | Thrombocytopenia | Ventriculomegaly" ], "symptoms_ja_list": [ "凝固の異常 | 大脳石灰化 | 子宮内成長遅滞 | 小頭 | 感音難聴 | 抱合型高ビリルビン血症 | 点状出血 | 発作 | 知的障害 | 網膜出血 | 肝トランスアミナーゼ上昇 | 肝炎 | 肝腫 | 脈絡膜網膜炎 | 脳室拡大 | 脾腫 | 血小板減少 | 視神経萎縮 | 貧血 | 黄疸" ] }, { "id": "NANDO:2100161", "label_en": "Disorder of organic acid metabolism", "label_ja": "有機酸代謝異常症", "yomigana": "ゆうきさんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100161", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200513", "label_en": "Dystonia 2", "label_ja": "DYT2ジストニア", "yomigana": "でぃーわいてぃー2じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200513", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal recessive inheritance | Blepharospasm | Dysarthria | Dysphagia | Feeding difficulties | Gait disturbance | Generalized dystonia | Involuntary movements | Juvenile onset | Limb dystonia | Slowly progressive | Torsion dystonia | Torticollis | Tremor" ], "symptoms_ja_list": [ "不随意運動 | 全身性ジストニア | 嚥下障害 | 四肢ジストニア | 常染色体潜性遺伝 | 振戦 | 捻転ジストニア | 斜頚 | 構音障害 | 歩行障害 | 眼瞼スパスム | 食餌摂取障害" ] }, { "id": "NANDO:2200673", "label_en": "Hypoprothrombinemia", "label_ja": "先天性プロトロンビン欠乏症", "yomigana": "せんてんせいぷろとろんびんけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200673", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Abnormal bleeding | Abnormal umbilical stump bleeding | Anemia | Arterial thrombosis | Autosomal recessive inheritance | Bruising susceptibility | Cephalohematoma | Congenital onset | Epistaxis | Gastrointestinal hemorrhage | Gingival bleeding | Intracranial hemorrhage | Intramuscular hematoma | Joint hemorrhage | Menorrhagia | Microscopic hematuria | Post-partum hemorrhage | Prolonged bleeding after dental extraction | Prolonged bleeding following procedure | Prolonged bleeding time | Prolonged partial thromboplastin time | Prolonged prothrombin time | Variable expressivity | Venous thrombosis" ], "symptoms_ja_list": [ "プロトロンビン時間遷延 | 処置に続く遷延性出 | 出血傾向 | 動脈血栓症 | 常染色体潜性遺伝 | 抜歯後の遷延性出血 | 月経痛 | 歯肉出血 | 産後出血 | 産瘤 | 異常な出血 | 異常な臍帯断端出血 | 筋内血腫 | 胃腸出血 | 貧血 | 遷出血時間遷延 | 部分的トロンボプラスチン時間遷延 | 関節出血 | 静脈血栓症 | 頭蓋内出血 | 顕微血尿 | 鼻出血" ] }, { "id": "NANDO:1200180", "label_en": "Mitochondrial complex I deficiency", "label_ja": "複合体I欠損症", "yomigana": "ふくごうたい1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200180", "notificationNumber": "21", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "3-hydroxydicarboxylic aciduria | Abnormal mitochondria in muscle tissue | Acute necrotizing encephalopathy | Apnea | Ataxia | Autosomal recessive inheritance | Babinski sign | Bilateral tonic-clonic seizure | Blindness | Cerebellar atrophy | Cerebral edema | Coma | Concentric hypertrophic cardiomyopathy | Cyanosis | Death in infancy | Decreased activity of mitochondrial complex I | Decreased activity of mitochondrial complex III | Developmental regression | Diabetes mellitus | Dyskinesia | Encephalopathy | Exercise intolerance | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Focal T2 hyperintense basal ganglia lesion | Focal T2 hyperintense brainstem lesion | Focal T2 hypointense basal ganglia lesion | Global developmental delay | Growth delay | Hepatic failure | Hepatomegaly | Hyperalaninemia | Hyperreflexia | Hypertrophic cardiomyopathy | Hypoglycemia | Hyporeflexia | Hypospadias | Hypotonia | Increased CSF lactate | Increased CSF protein concentration | Increased circulating pyruvate concentration | Increased intramyocellular lipid droplets | Infantile onset | Intrauterine growth retardation | Lactic acidosis | Lacticaciduria | Lethargy | Leukodystrophy | Leukoencephalopathy | Microcephaly | Mitochondrial inheritance | Mitochondrial myopathy | Muscle weakness | Nystagmus | Optic disc pallor | Optic neuropathy | Paroxysmal involuntary eye movements | Poor head control | Progressive macrocephaly | Proximal tubulopathy | Ptosis | Ragged-red muscle fibers | Reduced eye contact | Respiratory failure | Respiratory insufficiency | Sensorineural hearing impairment | Severe lactic acidosis | Short chin | Skeletal muscle atrophy | Spasticity | Splenomegaly | Strabismus | Tongue fasciculations | Undetectable visual evoked potentials | Upslanted palpebral fissure | Vomiting" ], "symptoms_ja_list": [ "3-ヒドロキシジカルボキシル酸尿症 | Babinski サイン | Ragged-red 筋線維 | ジスキネジア | チアノーゼ | ミトコンドリアミオパチー | ミトコンドリア複合体 I の活性減少 | ミトコンドリア複合体 III の活性減少 | ミトコンドリア遺伝 | ロイコジストロフィー | 乳酸尿 | 乳酸性アシドーシス | 低血糖 | 全般性発達遅滞 | 全身性間代性強直性発作 | 反射亢進 | 反射低下 | 呼吸不全 | 嘔吐 | 大脳浮腫 | 子宮内成長遅滞 | 小脳萎縮 | 小頭 | 尿道下裂 | 巣状 T2 低輝度基底核病変 | 巣状 T2 高輝度基底核病変 | 巣状 T2 高輝度脳幹病変 | 常染色体潜性遺伝 | 急性壊死性脳症 | 感音難聴 | 成長遅滞 | 成長障害 (成長不全) | 斜視 | 昏睡 | 求心性肥大型心筋症 | 無呼吸 | 無気力 | 痙性 | 発作性不随意性眼球運動 | 発達退行 | 白質脳症 | 盲 | 眼があわない | 眼振 | 眼瞼下垂 | 眼瞼裂斜上 | 短い下顎 | 筋細胞内脂肪滴増加 | 筋組織のミトコンドリア異常 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 糖尿病 | 肝不全 | 肝腫 | 肥大型心筋症 | 脳症 | 脾腫 | 舌線維束性収縮 | 血清ピルビン酸増加 | 視神経ニューロパチー | 視神経杯蒼白 | 視覚誘発電位欠損 | 近位腎尿細管症 | 進行性大頭 | 運動不耐症 | 運動失調 | 重症乳酸性アシドーシス | 頸定不全 | 食餌摂取障害 | 食餌摂取障害 in infancy | 髄液タンパクの増加 | 髄液乳酸増加 | 高アラニン血症" ] }, { "id": "NANDO:2100151", "label_en": "Collagen disease", "label_ja": "膠原病", "yomigana": "こうげんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100151", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201293", "label_en": "Mitochondrial Hsp60 chaperonopathy", "label_ja": "Hsp60シャペロン病", "yomigana": "えいちえすぴー60しゃぺろんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201293", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Apnea | Autosomal recessive inheritance | Babinski sign | Choreoathetosis | Ethylmalonic aciduria | Feeding difficulties in infancy | Flexion contracture | Global developmental delay | Head titubation | Hyperreflexia | Hypotonia | Increased circulating lactate concentration | Leukodystrophy | Neonatal onset | Nystagmus | Poor head control | Profound intellectual disability | Progressive spasticity | Secondary microcephaly | Seizure | Spastic paraplegia | Strabismus" ], "symptoms_ja_list": [ "Babinski サイン | エチルマロン酸尿 | ロイコジストロフィー | 全般性発達遅滞 | 反射亢進 | 屈曲拘縮 | 常染色体潜性遺伝 | 手揺動 | 斜視 | 無呼吸 | 生後の小頭 | 痙性対麻痺 | 発作 | 眼振 | 知的障害", "最重度 | 筋緊張低下 | 舞踏病アテトーゼ | 血清乳酸増加 | 進行性痙性 | 頸定不全 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:2200607", "label_en": "Ehlers-Danlos syndrome", "label_ja": "エーラス・ダンロス症候群", "yomigana": "えーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200607", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100172", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200905", "label_en": "Rectosigmoid Hirschsprung's disease", "label_ja": "S状結腸型ヒルシュスプルング病", "yomigana": "えすじょうけっちょうがたひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200905", "notificationNumber": "291", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200591", "label_en": "Lennox-Gastaut syndrome", "label_ja": "レノックス・ガストー症候群", "yomigana": "れのっくす・がすとーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200591", "notificationNumber": "144", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal brainstem morphology | Aggressive behavior | Apathy | Atonic seizure | Atypical absence seizure | Atypical behavior | Autistic behavior | Bilateral tonic-clonic seizure | Developmental regression | EEG abnormality | EEG with focal sharp slow waves | Encephalopathy | Falls | Focal-onset seizure | Generalized myoclonic seizure | Generalized tonic seizure | Hyperactivity | Intellectual disability | Irritability | Mental deterioration | Myoclonus | Neurodevelopmental delay | Personality disorder | Psychosis | Vertigo" ], "symptoms_ja_list": [ "ミオクローヌス | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 全身性間代性発作 | 多動 | 性格異常 | 攻撃的行動 | 無関心", "感情鈍磨 | 焦点性棘徐波を伴う脳波 | 焦点性発作 | 発達退行 | 眩暈 | 知的障害 | 知能悪化 | 神経発生遅延 | 精神病 | 脱力発作 | 脳幹形態の異常 | 脳波異常 | 脳症 | 自閉性行動 | 行動異常 | 被刺激性 | 転倒 | 非典型的欠伸発作" ] }, { "id": "NANDO:1200716", "label_en": "PR3-ANCA positive rapidly progressive glomerulonephritis", "label_ja": "急速進行性糸球体腎炎（PR3-ANCA陽性）", "yomigana": "きゅうそくしんこうせいしきゅうたいじんえん（ぴーあーる3-えーえぬしーえーようせい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200716", "notificationNumber": "220", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201477", "label_en": "Hypophosphatemic osteomalacia", "label_ja": "低リン血症性骨軟化症", "yomigana": "ていりんけっしょうせいこつなんかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201477", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100145", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200407", "label_en": "obsolete ACTH unresponsiveness", "label_ja": "obsolete 副腎皮質刺激ホルモン不応症", "yomigana": "ふくじんひしつしげきほるもんふおうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200407", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200554", "label_en": "Alexander disease", "label_ja": "アレキサンダー病", "yomigana": "あれきさんだーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200554", "notificationNumber": "131", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal dentate nucleus morphology | Abnormal pyramidal sign | Abnormal speech pattern | Abnormality of eye movement | Agenesis of corpus callosum | Apathy | Aphasia | Aqueductal stenosis | Ataxia | Autosomal dominant inheritance | Babinski sign | Bowel incontinence | Bulbar signs | Cerebral calcification | Childhood onset | Chorea | Clonus | Constipation | Death in adolescence | Death in childhood | Death in infancy | Depression | Developmental regression | Diabetes mellitus | Diffuse demyelination of the cerebral white matter | Diplopia | Drowsiness | Dysarthria | Dysmetria | Dysphagia | Dysphonia | EEG abnormality | Emotional lability | Facial palsy | Failure to thrive | Fatigue | Frontal bossing | Gait disturbance | High palate | Hydrocephalus | Hyperhidrosis | Hyperlordosis | Hyperpigmented nevi | Hyperreflexia | Hypertension | Hypotension | Hypothermia | Hypothyroidism | Hypotonia | Increased CSF protein concentration | Infantile onset | Infectious encephalitis | Intellectual disability | Juvenile onset | Kyphosis | Large face | Macrocephaly | Megalencephaly | Muscle weakness | Nausea and vomiting | Nystagmus | Osteopenia | Palatal tremor | Pendular nystagmus | Precocious puberty | Progressive macrocephaly | Ptosis | Recurrent singultus | Respiratory insufficiency | Scoliosis | Seizure | Self-injurious behavior | Short neck | Sleep apnea | Sleep disturbance | Spasticity | Sudden cardiac death | Tetraplegia | Tremor" ], "symptoms_ja_list": [ "Babinski サイン | うつ | クローヌス | 低体温 | 低血圧 | 便秘 | 側弯 | 前弯 | 前頭突出", "額突出 | 反射亢進 | 反復性しゃっくり | 口蓋ミオクローヌス | 吐気と 嘔吐 | 呼吸不全 | 嚥下障害 | 四肢麻痺 | 多汗 | 大きな顔 | 大脳白質のびまん性脱髄 | 大脳石灰化 | 大頭 | 失語症 | 巨大脳症 | 常染色体顕性遺伝 | 後弯 | 思春期早発 | 情動不安定 | 成長障害 (成長不全) | 振り子様眼振 | 振戦 | 構音障害 | 歩行障害 | 歯状核の異常 | 水道狭窄 | 水頭症 | 測定障害 | 無関心", "感情鈍磨 | 球症状 | 甲状腺機能低下症 | 異常な自律神経生理 | 疲労 | 痙性 | 発作 | 発達退行 | 発音障害 | 眠気 | 眼振 | 眼瞼下垂 | 眼運動の異常 | 睡眠時無呼吸 | 睡眠障害 | 知的障害 | 短い頸部 | 神経学的発語障害 | 突然心臓死 | 筋緊張低下 | 筋虚弱 | 糖尿病 | 脳梁無発生 of | 脳波異常 | 脳炎 | 自傷行動 | 舞踏病 | 色素沈着性母斑 | 複視 | 進行性大頭 | 運動失調 | 遺糞症 | 錐体路運動機能の異常 | 顔面麻痺 | 骨減少症 | 髄液タンパクの増加 | 高口蓋 | 高血圧" ] }, { "id": "NANDO:2201089", "label_en": "Late-onset carbamoylphosphate synthetase deficiency", "label_ja": "遅発型カルバミルリン酸合成酵素欠損症", "yomigana": "ちはつがたかるばみるりんさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201089", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200026", "label_en": "Secondary progressive multiple sclerosis", "label_ja": "二次性進行型多発性硬化症", "yomigana": "にじせいしんこうがたたはつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200026", "notificationNumber": "13", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200410", "label_en": "Turner syndrome", "label_ja": "ターナー症候群", "yomigana": "たーなーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200410", "notificationNumber": "88", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100150", "symptoms_en_list": [ "Abnormal dermatoglyphics | Abnormal facial shape | Abnormal fingernail morphology | Abnormal nonverbal communicative behavior | Abnormal pinna morphology | Abnormality of the dentition | Abnormality of the ovary | Alopecia | Anxiety | Aortic arch aneurysm | Aortic dissection | Aplasia/Hypoplasia of the mandible | Aplasia/Hypoplasia of the nipples | Arterial dissection | Atrial septal defect | Attention deficit hyperactivity disorder | Atypical behavior | Atypical scarring of skin | Autoimmunity | Bicuspid aortic valve | Biliary cirrhosis | Broad neck | Celiac disease | Cholestatic liver disease | Cirrhosis | Coarctation of aorta | Cubitus valgus | Cystic hygroma | Delayed early-childhood social milestone development | Delayed puberty | Delayed skeletal maturation | Depression | Dermatoglyphic ridges abnormal | Ectopic kidney | Elevated circulating hepatic transaminase concentration | Enlarged thorax | Enlargement of the distal femoral epiphysis | Epicanthus | Failure to thrive in infancy | Female infertility | Gastrointestinal angiodysplasia | Gastrointestinal inflammation | Genu valgum | Glucose intolerance | Gonadal dysgenesis | Gonadoblastoma | Growth delay | Hashimoto thyroiditis | Hearing impairment | Hepatic fibrosis | Hepatic steatosis | High palate | High urinary gonadotropin level | High", "narrow palate | Hip dysplasia | Horseshoe kidney | Hyperconvex fingernails | Hyperinsulinemia | Hypermobility of toe joints | Hypertension | Hypoplastic left ventricle | Hypoplastic toenails | Increased circulating gonadotropin level | Increased upper to lower segment ratio | Inflammation of the large intestine | Intrauterine growth retardation | Inverted nipples | Irregular proximal tibial epiphyses | Kyphosis | Low posterior hairline | Low-set ears | Lymphedema | Madelung deformity | Melanocytic nevus | Melanoma | Micrognathia | Myocardial infarction | Myopia | Neck pterygia | Neurodevelopmental delay | Nevus | Numerous congenital melanocytic nevi | Obesity | Osteopenia | Osteoporosis | Pectus excavatum | Pes planus | Postnatal growth retardation | Premature ovarian insufficiency | Primary amenorrhea | Prolonged QT interval | Ptosis | Recurrent otitis media | Reduced bone mineral density | Renal hypoplasia/aplasia | Retrognathia | Scoliosis | Secondary amenorrhea | Shield chest | Short 4th metacarpal | Short 5th metacarpal | Short neck | Short stature | Short sternum | Short toe | Specific learning disability | Splayed toes | Strabismus | Thickened nuchal skin fold | Thyroiditis | Type II diabetes mellitus | Vitiligo | Webbed neck | Wide intermamillary distance" ], "symptoms_ja_list": [ "II 型糖尿病 | Made肺変形 | うつ | ゴナドトロピン過剰症 | セリアック秒 | メラニン細胞母斑 | リンパ性浮腫 | 上節/下節比の増加 | 下顎の無形成/低形成 | 下顎後退 | 不安 | 不規則な近位脛骨骨端 | 乳児期の成長障害 (成長不全) | 乳頭無形成/低形成 | 二弁性大動脈弁 | 二次性無月経 | 低身長 | 側弯 | 内眼角贅皮 | 凸の指爪 | 分厚い後部皮膚ヒダ | 動脈解離 | 卵巣異常 | 原発性無月経 | 反復性中耳炎 | 外反肘 | 外反膝 | 多数の先天性メラニン細胞母斑 | 大動脈弓拡張 | 大動脈縮窄 | 大動脈解離 | 大腸の炎症 | 女性不妊 | 子宮内成長遅滞 | 小顎 | 尿中ゴナドトロピン高値 (原発性性腺機能低下症) | 左心低形成 | 幅広い乳頭間距離 | 幅広い頸部 | 広がった趾 | 後弯 | 後部毛髪線低位 | 心房中隔欠損 | 心筋梗塞 | 思春期遅発 | 性腺異発生 | 性腺芽細胞腫 | 成長遅滞 | 扁平足 | 指爪の異常 | 斜視 | 早発性卵巣不全 | 橋本甲状腺炎 | 歯の異常 | 母斑 | 水滑性嚢腫 | 注意力欠陥多動性疾患 | 漏斗胸 | 特異的学習障害 | 生後の成長遅滞 | 甲状腺炎 | 異常な皮膚紋理 | 異常な顔の形 | 異所性腎 | 白斑 | 皮膚紋理隆線異常 | 盾状胸 | 眼瞼下垂 | 短い第4中手骨 | 短い第5中手骨 | 短い胸骨 | 短い趾 | 短い頸部 | 社会性の発達遅延 | 神経発生遅延 | 禿頭 | 翼状頚 | 耐糖能異常 | 耳介の異常 | 耳介低位 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝線維症 | 股関節異形成 | 肥満 | 胃腸炎症 | 胃腸血管異形成 | 胆汁うっ滞性肝疾患 | 胆汁性肝硬変 | 胸郭拡大 | 脂肪肝 | 腎低形成/無形成 | 自己免疫 | 行動異常 | 趾爪低形成 | 趾関節過動 | 近視 | 逆位乳頭 | 遠位大腿骨骨端の拡大 | 遷延性 QT 間隔 | 難聴 | 非典型的皮膚瘢痕 | 非言語的行動使用での障害 | 頸部翼状片 | 馬蹄腎 | 骨ミネラル濃度減少 | 骨格骨化遅延 | 骨減少症 | 骨粗鬆症 | 高インスリン血症 | 高口蓋 | 高狭口蓋 | 高血圧 | 黒色腫" ] }, { "id": "NANDO:1200646", "label_en": "Ehlers-Danlos syndrome, classical type", "label_ja": "古典型エーラス・ダンロス症候群", "yomigana": "こてんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200646", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cornea morphology | Abnormal foot morphology | Abnormality of the temporomandibular joint | Acrocyanosis | Aortic root aneurysm | Arterial dissection | Arteriovenous fistula | Arthralgia | Atrophic scars | Bladder diverticulum | Blepharochalasis | Bruising susceptibility | Chronic constipation | Cigarette-paper scars | Dermatochalasis | Dilatation of the cerebral artery | Dislocated radial head | Epicanthus | Fatigue | Fragile skin | Gastroesophageal reflux | Generalized joint hypermobility | Headache | Hiatus hernia | Hip dislocation | Hyperextensible skin | Hypotonia | Incisional hernia | Inguinal hernia | Joint swelling | Limb pain | Mitral regurgitation | Mitral valve prolapse | Molluscoid pseudotumors | Motor delay | Muscle spasm | Muscle weakness | Nausea | Orthostatic hypotension | Osteoarthritis | Osteopenia | Patellar dislocation | Pes planus | Phalangeal dislocation | Poor wound healing | Premature birth | Premature rupture of membranes | Prematurely aged appearance | Prolonged bleeding time | Pulp calcification | Rectal prolapse | Scoliosis | Shoulder dislocation | Soft", "doughy skin | Striae distensae | Talipes equinovarus | Tricuspid valve prolapse | Umbilical hernia | Uterine prolapse | Vomiting" ], "symptoms_ja_list": [ "タバコ巻紙瘢痕 | 三尖弁逸脱 | 伸展線 | 側弯 | 側頭下顎関節の異常 | 傷治癒不全 | 僧帽弁逆流 | 僧帽弁逸脱 | 全身性関節弛緩 | 内反尖足 | 内眼角贅皮 | 出血傾向 | 前期破水 | 動脈解離 | 動静脈瘻 | 吐気 | 嘔吐 | 四肢痛 | 大動脈基部拡大 | 大脳動脈瘤 | 子宮脱 | 慢性便秘 | 扁平足 | 指趾骨脱臼 | 早産 | 早老外観 | 柔らかいパン生地様の皮膚 | 橈骨頭脱臼 | 歯髄石 | 疲労 | 瘢痕ヘルニア | 皮膚弛緩 | 直腸逸脱 | 眼瞼皮膚弛緩症 | 筋けいれん | 筋緊張低下 | 筋虚弱 | 股関節脱臼 | 肢端チアノーゼ | 肩脱臼 | 胃食道逆流 | 脆い皮膚 | 膀胱憩室 | 膝蓋骨脱臼 | 臍ヘルニア | 萎縮性瘢痕 | 裂孔ヘルニア | 角膜の異常 | 起立性低血圧 | 足の異常 | 軟属腫様偽腫瘍 | 運動発達遅滞 | 過伸展皮膚 | 遷出血時間遷延 | 関節痛 | 関節腫脹 | 頭痛 | 骨減少症 | 骨関節炎 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200065", "label_en": "Adult-onset Niemann-Pick disease type C", "label_ja": "成人型ニーマン・ピック病C型", "yomigana": "せいじんがたにーまん・ぴっくびょうしーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200065", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100189", "label_en": "Thrombotic thrombocytopenic purpura", "label_ja": "血栓性血小板減少性紫斑病", "yomigana": "けっせんせいけっしょうばんげんしょうせいしはんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100189", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200635", "label_en": "Epidermolysis bullosa acquisita", "label_ja": "後天性表皮水疱症", "yomigana": "こうてんせいひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200635", "notificationNumber": "162", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abdominal pain | Abnormal blistering of the skin | Abnormal hair morphology | Atypical scarring of skin | Diabetes mellitus | Hyperpigmentation of the skin | Inflammation of the large intestine | Milia | Nail dystrophy | Pruritus" ], "symptoms_ja_list": [ "大腸の炎症 | 掻痒 | 毛髪の異常 | 爪ジストロフィー | 異常な皮膚水泡 | 皮膚高色素 | 稗粒腫 | 糖尿病 | 腹痛 | 非典型的皮膚瘢痕" ] }, { "id": "NANDO:1200233", "label_en": "Pemphigus erythematosus", "label_ja": "紅斑性天疱瘡", "yomigana": "こうはんせいてんぽうそう", "url": "http://nanbyodata.jp/ontology/NANDO_1200233", "notificationNumber": "35", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Acantholysis | Antinuclear antibody positivity | Autoimmunity | Focal dermal aplasia/hypoplasia | Hypopigmented skin patches | Localized skin lesion | Oral ulcer | Skin erosion | Systemic lupus erythematosus" ], "symptoms_ja_list": [ "低色素性皮膚斑 | 全身性紅斑性狼瘡 | 口腔潰瘍 | 抗核抗体陽性 | 有棘細胞解離 | 異常な皮膚水泡 | 皮膚びらん | 自己免疫 | 限局性皮膚病変 | 顔面皮膚無形成/低形成" ] }, { "id": "NANDO:2200047", "label_en": "Hepatocellular carcinoma", "label_ja": "肝細胞癌", "yomigana": "かんさいぼうがん", "url": "http://nanbyodata.jp/ontology/NANDO_2200047", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Hepatocellular carcinoma | Micronodular cirrhosis | Subacute progressive viral hepatitis | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "亜急性進行性ウイルス肝炎 | 体細胞モザイク | 小結節性肝硬変 | 肝細胞癌" ] }, { "id": "NANDO:2201373", "label_en": "Stage IV huge arteriovenous malformation", "label_ja": "巨大動静脈奇形（Stage IV）", "yomigana": "きょだいどうじょうみゃくきけい（すてーじ4）", "url": "http://nanbyodata.jp/ontology/NANDO_2201373", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200356", "label_en": "ACTH unresponsiveness", "label_ja": "副腎皮質刺激ホルモン不応症", "yomigana": "ふくじんひしつしげきほるもんふおうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200356", "notificationNumber": "84", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100128", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200729", "label_en": "obsolete Chronic focal membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 慢性・巣状型膜性増殖性糸球体腎炎", "yomigana": "まんせい・そうじょうがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200729", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200941", "label_en": "Usher syndrome", "label_ja": "アッシャー症候群", "yomigana": "あっしゃーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200941", "notificationNumber": "303", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [ "Abnormal cardiovascular system physiology | Abnormal dental enamel morphology | Abnormal electroretinogram | Abnormal retinal pigmentation | Abnormal vestibular function | Abnormality of dental color | Anxiety | Aplasia/Hypoplasia of the cerebellum | Astigmatism | Ataxia | Blindness | Carious teeth | Cataract | Cerebral cortical atrophy | Clumsiness | Delayed gross motor development | Depression | EMG abnormality | Floppy infant | Hallucinations | High hypermetropia | Hyperacusis | Hypertrophic cardiomyopathy | Microdontia | Myopathy | Myopia | Nyctalopia | Nystagmus | Peripheral visual field loss | Progressive visual loss | Psychosis | Sensorineural hearing impairment | Tinnitus | Vestibular areflexia | Visual field defect | Visual impairment" ], "symptoms_ja_list": [ "うつ | ミオパチー | 不器用 | 不安 | 乱視 | 乳児筋性筋緊張低下 | 前庭機能障害 | 前庭無反射 | 夜盲症 | 大脳皮質萎縮 | 小歯 | 小脳無形成/低形成 | 幻覚 | 心血管系生理の異常 | 感音難聴 | 末梢視野喪失 | 歯エナメル質異常 | 歯色の異常 | 白内障 | 盲 | 眼振 | 筋電図異常 | 粗大運動発達遅延 | 精神病 | 網膜色素異常 | 網膜電図異常 | 耳鳴 | 聴覚過敏 | 肥大型心筋症 | 視力障害 | 視野障害 | 近視 | 進行性視力喪失 | 運動失調 | 高度遠視 | 齲歯" ] }, { "id": "NANDO:1200847", "label_en": "Hepatic glycogen storage disease type IXa", "label_ja": "肝型糖原病IXa型", "yomigana": "かんがたとうげんびょう9えーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200847", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Childhood onset | Elevated circulating hepatic transaminase concentration | Fatigue | Growth delay | Hepatomegaly | Hypercholesterolemia | Hypertriglyceridemia | Hyperuricemia | Hypoglycemia | Hypotonia | Infantile onset | Juvenile onset | Ketosis | Lactic acidosis | Motor delay | Splenomegaly | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | ケトン症 | 乳酸性アシドーシス | 低血糖 | 成長遅滞 | 疲労 | 筋緊張低下 | 肝トランスアミナーゼ上昇 | 肝腫 | 脾腫 | 運動発達遅滞 | 高コレステロール血症 | 高トリグリセリド血症 | 高尿酸血症" ] }, { "id": "NANDO:1201002", "label_en": "Congenital tracheal stenosis/congenital subglottic stenosis", "label_ja": "先天性気管狭窄症／先天性声門下狭窄症", "yomigana": "せんてんせいきかんきょうさくしょう／せんてんせいせいもんかきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201002", "notificationNumber": "330", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200511", "label_en": "Carnitine-acylcarnitine translocase deficiency", "label_ja": "カルニチン/アシルカルニチントランスロカーゼ欠損症", "yomigana": "かるにちん/あしるかるにちんとらんすろかーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200511", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Arrhythmia | Atrioventricular block | Autosomal recessive inheritance | Bradycardia | Cardiac arrest | Cardiomyopathy | Cardiorespiratory arrest | Coma | Cyanosis | Decreased circulating carnitine concentration | Dicarboxylic aciduria | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Elevated creatine kinase after exercise | Encephalopathy | Fasting hypoglycemia | Generalized hypotonia | Global developmental delay | Hepatic failure | Hepatic steatosis | Hepatomegaly | Hyperammonemia | Hypoglycemia | Hypoketotic hypoglycemia | Hypotension | Hypothermia | Hypotonia | Irritability | Lethargy | Microcephaly | Muscle weakness | Neonatal hypoglycemia | Nystagmus | Oliguria | Preeclampsia | Premature ventricular contraction | Respiratory insufficiency | Rhabdomyolysis | Seizure | Sudden episodic apnea | Ventricular hypertrophy | Ventricular tachycardia" ], "symptoms_ja_list": [ "ジカルボン酸尿 | チアノーゼ | 不整脈 | 乏尿 | 低ケトン性低血糖 | 低体温 | 低血圧 | 低血糖 | 全般性発達遅滞 | 全身性筋緊張低下 | 呼吸不全 | 子癇前症 | 小頭 | 常染色体潜性遺伝 | 徐脈 | 心停止 | 心室性 頻拍 | 心室性期外収縮 | 心室肥大 | 心筋症 | 心肺停止 | 房室ブロック | 新生児低血糖 | 昏睡 | 横紋筋融解 | 無気力 | 発作 | 眼振 | 空腹時低血糖 | 突然無呼吸エピソード | 筋緊張低下 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝腫 | 脂肪肝 | 脳症 | 血清 creatine phosphokinase上昇 | 血漿カルニチン減少 | 被刺激性 | 運動後の creatine kinase 上昇 | 高アンモニア血症" ] }, { "id": "NANDO:2200464", "label_en": "Insulin receptor abnormality", "label_ja": "インスリン受容体異常症", "yomigana": "いんすりんじゅようたいいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200464", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200780", "label_en": "C4 deficiency", "label_ja": "C4 欠損症", "yomigana": "しー4けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200780", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100049", "label_en": "Ventricular tachycardia", "label_ja": "心室頻拍", "yomigana": "しんしつひんぱく", "url": "http://nanbyodata.jp/ontology/NANDO_2100049", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200176", "label_en": "Ureteropelvic junction obstruction", "label_ja": "先天性水腎症", "yomigana": "せんてんせいすいじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200176", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100213", "label_en": "Chronic graft-versus-host disease", "label_ja": "慢性移植片対宿主病", "yomigana": "まんせいいしょくへんたいしゅくしゅびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100213", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200914", "label_en": "Type I biliary atresia", "label_ja": "I型胆道閉鎖症", "yomigana": "1がたたんどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200914", "notificationNumber": "296", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200629", "label_en": "obosolete CHILD syndrome", "label_ja": "obsolete CHILD症候群", "yomigana": "ちゃいるどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200629", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200389", "label_en": "Syndrome of abnormal secretion of adrenocorticotropic hormone", "label_ja": "副腎皮質刺激ホルモン分泌低下症", "yomigana": "ふくじんひしつしげきほるもんぶんぴつていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200389", "notificationNumber": "78", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200787", "label_en": "C9 deficiency", "label_ja": "C9 欠損症", "yomigana": "しー9けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200787", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Decreased circulating complement C9 concentration" ], "symptoms_ja_list": [ "血清補体 C9減少" ] }, { "id": "NANDO:2200058", "label_en": "Undifferentiated sarcoma", "label_ja": "未分化肉腫", "yomigana": "みぶんかにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200058", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200810", "label_en": "Hereditary folate malabsorption", "label_ja": "先天性葉酸吸収不全症", "yomigana": "せんてんせいようさんきゅうしゅうふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200810", "notificationNumber": "253", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of movement | Abnormality of the immune system | Anorexia | Ataxia | Athetosis | Atypical behavior | Autosomal recessive inheritance | Basal ganglia calcification | Cerebral calcification | Cheilitis | Decreased circulating folate concentration | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total neutrophil count | Diarrhea | Dyskinesia | Failure to thrive | Feeding difficulties in infancy | Folate-responsive megaloblastic anemia | Gastroesophageal reflux | Generalized hypotonia | Global developmental delay | Glossitis | Hyperreflexia | Hypotonia | Immunodeficiency | Increased total eosinophil count | Infantile onset | Intellectual disability | Irritability | Malabsorption | Megaloblastic anemia | Nausea and vomiting | Oral ulcer | Pallor | Pancytopenia | Peripheral neuropathy | Recurrent infections | Recurrent respiratory infections | Recurrent urinary tract infections | Seizure | Skeletal muscle atrophy | Thrombocytopenia" ], "symptoms_ja_list": [ "アテトーゼ | ジスキネジア | 下痢 | 低ガンマグロブリン血症 | 免疫不全 | 免疫系の異常 | 全般性発達遅滞 | 全身性筋緊張低下 | 反射亢進 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性感染症 | 口唇炎 | 口腔潰瘍 | 吐気と 嘔吐 | 吸収障害 | 基底核石灰化 | 大脳石灰化 | 好中球減少症 | 好酸球増多症 | 巨赤芽球性貧血 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 末梢神経ニューロパチー | 汎血球減少症 | 発作 | 白血球減少症 | 知的障害 | 筋緊張低下 | 筋萎縮 | 胃食道逆流 | 舌炎 | 葉酸反応性巨赤芽球性貧血 | 葉酸欠乏症 | 蒼白 | 血小板減少 | 行動異常 | 被刺激性 | 運動の異常 | 運動失調 | 食思不振 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:2200449", "label_en": "NLRP12-associated periodic syndrome", "label_ja": "NLRP-12関連周期性症候群", "yomigana": "えぬえるあーるぴー12かんれんしゅうきせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200449", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abdominal pain | Arthralgia | Arthritis | Autosomal dominant inheritance | Conjunctivitis | Dehydration | Dysesthesia | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Erythema | Erythema nodosum | Fatigue | Fever | Headache | Hyperhidrosis | Increased total leukocyte count | Infantile onset | Lower limb pain | Lymphadenopathy | Myalgia | Nausea and vomiting | Neonatal onset | Polydipsia | Pruritus | Recurrent aphthous stomatitis | Recurrent fever | Sensorineural hearing impairment | Skin rash | Splenomegaly | Typified by incomplete penetrance | Urticaria" ], "symptoms_ja_list": [ "CRP 上昇 | リンパ節腫大 | 下肢痛 | 反復性アフタ性口内炎 | 吐気と 嘔吐 | 多汗 | 多飲 | 常染色体顕性遺伝 | 感覚異常 | 感音難聴 | 掻痒 | 疲労 | 発熱 | 発熱エピソード | 白血球増多症 | 皮膚発疹 | 筋痛 | 紅斑 | 結節性紅斑 | 結膜炎 | 脱水 | 脾腫 | 腹痛 | 蕁麻疹 | 赤沈値上昇 | 関節炎 | 関節痛 | 頭痛" ] }, { "id": "NANDO:1201054", "label_en": "Fast-channel congenital myasthenic syndrome", "label_ja": "ファーストチャンネル症候群", "yomigana": "ふぁーすとちゃんねるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201054", "notificationNumber": "12", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201204", "label_en": "Metachromatic leukodystrophy, adult form", "label_ja": "成人型異染性白質ジストロフィー", "yomigana": "せいじんがたいせんせいはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201204", "notificationNumber": "112", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abdominal distention | Abnormal glycosphingolipid metabolism | Abnormal social behavior | Abnormality of metabolism/homeostasis | Abnormality of visual evoked potentials | Babinski sign | Bilateral sensorineural hearing impairment | Bowel incontinence | Bulbar signs | Cholecystitis | Chorea | Clumsiness | Decreased nerve conduction velocity | Delusion | Dementia | Depression | Developmental regression | Dysarthria | Dystonia | EMG: chronic denervation signs | Emotional lability | Frequent falls | Gait disturbance | Generalized hypotonia | Hallucinations | Hyporeflexia | Increased CSF protein concentration | Intention tremor | Leukodystrophy | Loss of speech | Memory impairment | Muscle weakness | Neoplasm of the gallbladder | Optic atrophy | Orthostatic hypotension due to autonomic dysfunction | Progressive gait ataxia | Progressive peripheral neuropathy | Progressive psychomotor deterioration | Progressive spastic quadriplegia | Reduced visual acuity | Schizophrenia | Seizure | Short attention span | Spasticity | Urinary incontinence" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | うつ | グリコスフィンゴリピド 代謝の異常 | ジストニア | ロイコジストロフィー | 不器用 | 両側性感音難聴 | 中心視力減少 | 代謝/ホメオスターシスの異常 | 企図振戦 | 全身性筋緊張低下 | 反射低下 | 妄想 | 幻覚 | 情動不安定 | 構音障害 | 歩行障害 | 球症状 | 異常な社会的行動 | 痙性 | 発作 | 発語喪失 | 発達退行 | 短い注意期間 | 神経活動電位の振幅減少 | 筋虚弱 | 筋電図: 慢性変性サイン | 統合失調症 | 胆嚢新生物 | 胆嚢炎 | 腹部膨満 | 自律神経性機能障害による起立性低血圧 | 舞踏病 | 視神経萎縮 | 視覚誘発電位の異常 | 記憶障害 | 進行性末梢神経ニューロパチー | 進行性歩行失調 | 進行性痙性四肢麻痺 | 進行性精神運動発達悪化 | 遺尿 | 遺糞症 | 頻回の転倒 | 髄液タンパクの増加" ] }, { "id": "NANDO:2201521", "label_en": "Congenital esophageal atresia Gross type D", "label_ja": "先天性食道閉鎖症 Gross D型", "yomigana": "せんてんせいしょくどうへいさしょう ぐろすでぃーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201521", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100308", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200884", "label_en": "Klippel-Trenaunay-Weber syndrome", "label_ja": "クリッペル・トレノネー・ウェーバー症候群", "yomigana": "くりっぺる・とれのねー・うぇーばーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200884", "notificationNumber": "281", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal skeletal morphology | Abnormal skull morphology | Abnormal tricuspid valve morphology | Abnormality of blood and blood-forming tissues | Abnormality of the menstrual cycle | Abnormality of the pulmonary artery | Arteriovenous fistula | Ascites | Atrial septal defect | Cellulitis | Congestive heart failure | Edema | Finger aplasia | Gastrointestinal hemorrhage | Glaucoma | Hand polydactyly | Hemangioma | Hematuria | Hemihypertrophy | Hepatomegaly | Hydrops fetalis | Hypercoagulability | Hyperpigmented nevi and streak | Intellectual disability | Internal hemorrhage | Lower limb asymmetry | Lymphangioma | Lymphedema | Macrocephaly | Macrodactyly | Microcephaly | Microcytic anemia | Patent ductus arteriosus | Peripheral arteriovenous fistula | Prolonged bleeding time | Pulmonary embolism | Respiratory insufficiency | Seizure | Sporadic | Syndactyly | Tall stature | Upper limb asymmetry | Venous insufficiency | Venous thrombosis" ], "symptoms_ja_list": [ "うっ血性心不全 | リンパ性浮腫 | リンパ管腫 | 三尖弁の異常 | 上肢非対称 | 下肢非対称 | 内出血 | 凝固促進 | 動脈管開存症 | 動静脈瘻 | 合指趾症 | 呼吸不全 | 多指症 | 大頭 | 孤発性 | 小球性貧血 | 小頭 | 巨指趾 | 心房中隔欠損 | 指無形成 | 月経周期異常 | 末梢動静脈瘻 | 浮腫 | 片側肥大 | 発作 | 知的障害 | 緑内障 | 肝腫 | 肺動脈の異常 | 肺塞栓症 | 胃腸出血 | 胎児水腫 | 腹水 | 色素沈着性母斑と線状 | 蜂巣織炎 | 血尿 | 血液および血液痙性組織の異常 | 血管腫 | 遷出血時間遷延 | 静脈不全 | 静脈血栓症 | 頭蓋骨の異常 | 骨格形態の異常 | 高身長" ] }, { "id": "NANDO:2200256", "label_en": "Double outlet right ventricle", "label_ja": "両大血管右室起始症", "yomigana": "りょうだいけっかんうしつきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200256", "notificationNumber": "98", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100076", "symptoms_en_list": [ "Abnormal external ear cartilage morphology | Aplasia/Hypoplasia of the thymus | Cleft palate | Coarctation of aorta | Cyanosis | Depressed nasal bridge | Double outlet right ventricle | Failure to thrive | Feeding difficulties | Hypertelorism | Hypocalcemia | Hypoparathyroidism | Hypoplastic left ventricle | Intestinal malrotation | Mild intellectual disability | Narrow mouth | Pulmonary artery atresia | Pulmonic stenosis | Short stature | Submucous cleft hard palate | Tachycardia | Tachypnea | Tetralogy of Fallot | Truncus arteriosus | Ventricular septal defect" ], "symptoms_ja_list": [ "Fallot 四徴症 | チアノーゼ | 両大血管右室起始症 | 両眼隔離 | 低カルシウム血症 | 低身長 | 副甲状腺機能低下症 | 口蓋裂 | 多呼吸 | 大動脈縮窄 | 左心低形成 | 心室中隔欠損 | 成長障害 (成長不全) | 狭い口 | 知的障害", "軽度 | 粘膜下硬口蓋裂 | 総動脈幹 | 肺動脈狭窄 | 肺動脈閉鎖 | 胸腺無形成/低形成 | 腸回転異常 | 落ちくぼんだ鼻梁 | 頻拍 | 食餌摂取障害" ] }, { "id": "NANDO:2200419", "label_en": "Juvenile polymyositis", "label_ja": "若年性多発性筋炎", "yomigana": "じゃくねんせいたはつせいひふきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200419", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200383", "label_en": "Testicular dysgenesis", "label_ja": "精巣形成不全", "yomigana": "せいそうけいせいふぜん", "url": "http://nanbyodata.jp/ontology/NANDO_2200383", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100139", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200283", "label_en": "Coarctation of the aorta", "label_ja": "大動脈縮窄症", "yomigana": "だいどうみゃくしゅくさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200283", "notificationNumber": "59", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100098", "symptoms_en_list": [ "Abnormal left ventricular outflow tract morphology | Aortic valve atresia | Autosomal dominant inheritance | Bicuspid aortic valve | Cardiomegaly | Coarctation of aorta | Coarctation of the descending aortic arch | Congestive heart failure | Coronary artery atherosclerosis | Hypertension | Hypoplastic aortic arch | Hypoplastic left ventricle | Interrupted aortic arch | Non-Mendelian inheritance | Patent ductus arteriosus | Perimembranous ventricular septal defect | Persistent left superior vena cava | Pseudocoarctation of the aorta | Pulmonary arterial hypertension | Stroke | Tetralogy of Fallot" ], "symptoms_ja_list": [ "Fallot 四徴症 | うっ血性心不全 | 下行大動脈弓縮窄 | 二弁性大動脈弁 | 偽大動脈縮窄 | 冠動脈疾患 | 動脈管開存症 | 卒中 | 多因子遺伝 | 大動脈弁閉鎖 | 大動脈弓低形成 | 大動脈弓離断 | 大動脈縮窄 | 左室拍出路の異常 | 左心低形成 | 常染色体顕性遺伝 | 心拡大 | 持続性左上大静脈 | 肺高血圧 | 膜様部周囲心室中隔欠損 | 高血圧" ] }, { "id": "NANDO:1201137", "label_en": "Incompletel Behçet’s disease-a", "label_ja": "不全型aベーチェット病", "yomigana": "ふぜんがたえーべーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201137", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200269", "label_en": "Complete atrioventricular septal defect", "label_ja": "完全型房室中隔欠損症", "yomigana": "かんぜんがたぼうしつちゅうかくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200269", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100086", "symptoms_en_list": [ "Abnormal EKG | Abnormal cardiac atrium morphology | Abnormal facial shape | Atrioventricular block | Cardiomegaly | Complete atrioventricular canal defect | Complete right bundle branch block | Congestive heart failure | Cyanosis | Elevated pulmonary artery pressure | Excessive daytime somnolence | Failure to thrive | Feeding difficulties | Hepatomegaly | Hyperhidrosis | Left-to-right shunt | Lethargy | Primum atrial septal defect | Recurrent pneumonia | Right ventricular failure | Right ventricular hypertrophy | Tachycardia | Tachypnea" ], "symptoms_ja_list": [ "うっ血性心不全 | チアノーゼ | 一次孔心房中隔欠損症 | 反復性肺炎 | 右室不全 | 右室肥大 | 右脚ブロック | 嗜眠 | 多呼吸 | 多汗 | 完全型房室管欠損 | 左-右シャントunt | 心房の異常 | 心拡大 | 心電図異常 | 成長障害 (成長不全) | 房室ブロック | 無気力 | 異常な顔の形 | 肝腫 | 肺動脈圧上昇 | 頻拍 | 食餌摂取障害" ] }, { "id": "NANDO:2200847", "label_en": "Carpenter syndrome", "label_ja": "Carpenter症候群", "yomigana": "かーぺんたーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200847", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal cornea morphology | Abnormal reproductive system morphology | Abnormal skull morphology | Brachydactyly | Broad thumb | Camptodactyly of finger | Clinodactyly of the 5th finger | Cloverleaf skull | Craniosynostosis | Cryptorchidism | Depressed nasal ridge | Epicanthus | External genital hypoplasia | Finger syndactyly | Genu valgum | Hypertelorism | Intellectual disability | Kyphoscoliosis | Macrocephaly | Narrow face | Obesity | Oxycephaly | Patent ductus arteriosus | Plagiocephaly | Polydactyly | Polysplenia | Postaxial hand polydactyly | Preaxial foot polydactyly | Prominent metopic ridge | Short 4th metacarpal | Short palm | Strabismus | Syndactyly | Talipes equinovarus | Tall stature | Toe syndactyly | Turricephaly | Umbilical hernia | Wide nose" ], "symptoms_ja_list": [ "クローバー型頭蓋骨 | 両眼隔離 | 停留精巣 | 内反尖足 | 内眼角贅皮 | 動脈管開存症 | 合指症 | 合指趾症 | 合趾症 | 塔状頭 | 外反膝 | 外性器低形成 | 多指趾症 | 多脾症 | 大頭 | 屈指 | 幅広い母指 | 幅広い鼻 | 後側弯 | 循環器系の形態異常 | 性器形態異常 | 斜視 | 斜頭 | 狭い顔 | 目立つ前頭縫合隆起 | 知的障害 | 短い手掌 | 短い第4中手骨 | 短指症候群 | 第5指弯指 | 肥満 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 角膜の異常 | 軸前性多趾症 | 軸後性多指症 | 頭蓋合骨症 | 頭蓋骨の異常 | 高身長" ] }, { "id": "NANDO:2100159", "label_en": "Inborn errors of metabolism", "label_ja": "先天性代謝異常", "yomigana": "せんてんせいたいしゃいじょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100159", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200117", "label_en": "Sialidosis type 1", "label_ja": "シアリドーシスI型", "yomigana": "しありどーしす1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200117", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal speech pattern | Abnormal vertebral body morphology | Abnormality of movement | Aminoaciduria | Ataxia | Cataract | Cherry red spot of the macula | Coarse facial features | Corneal opacity | Decreased nerve conduction velocity | Delayed skeletal maturation | Dysostosis multiplex | EEG abnormality | Frontal bossing | Gait disturbance | Hernia | Hyperkeratosis | Hypotonia | Increased urinary O-linked sialopeptides | Intellectual disability | Kyphosis | Muscle weakness | Myoclonus | Nystagmus | Pectus carinatum | Progressive visual loss | Retinopathy | Scoliosis | Seizure | Sensorineural hearing impairment | Short stature | Short thorax | Skeletal dysplasia | Skeletal muscle atrophy | Slurred speech | Splenomegaly | Thick lower lip vermilion | Tremor | Urinary excretion of sialylated oligosaccharides | Vascular skin abnormality | Visual impairment | Wide nasal bridge" ], "symptoms_ja_list": [ "はと胸 | アミノ酸尿 | シアル化オリゴ糖の尿中排泄 | ヘルニア | ミオクローヌス | 不明瞭言語 | 低身長 | 側弯 | 分厚い下口唇唇紅部 | 前頭突出", "額突出 | 多発性異骨症 | 尿中 O-linked sialopeptides 増加 | 幅広い鼻梁 | 後弯 | 感音難聴 | 振戦 | 椎体骨形態異常 | 歩行障害 | 発作 | 白内障 | 眼振 | 知的障害 | 短い胸郭 | 神経学的発語障害 | 神経活動電位の振幅減少 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗な顔貌 | 網膜症 | 脳波異常 | 脾腫 | 血管皮膚異常 | 視力障害 | 角膜混濁 | 進行性視力喪失 | 運動の異常 | 運動失調 | 過角化症 | 骨格異形成 | 骨格骨化遅延 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2200638", "label_en": "Microangiopathic hemolytic anemia", "label_ja": "微小血管障害性溶血性貧血", "yomigana": "びしょうけっかんしょうがいせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200638", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100185", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200213", "label_en": "Hereditary systemic amyloidosis (excluding ATTRv)", "label_ja": "遺伝性全身性アミロイドーシス（ATTRv を除く）", "yomigana": "いでんせいぜんしんせいあみろいどーしす（ATTRvをのぞく）", "url": "http://nanbyodata.jp/ontology/NANDO_1200213", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201395", "label_en": "DDX3X-related neurodevelopmental disorder", "label_ja": "DDX3X関連神経発達異常症", "yomigana": "でぃーでぃーえっくす3えっくすかんれんしんけいはったついじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201395", "notificationNumber": "63", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100300", "symptoms_en_list": [ "Aggressive behavior | Anteverted nares | Atypical behavior | Bifid uvula | Brachycephaly | Broad-based gait | Bulbous nose | Cleft palate | Cleft upper lip | Decreased body weight | Dyskinesia | Dysplastic pulmonary valve | Hearing impairment | Hyperactivity | Hypertelorism | Hypoplasia of the corpus callosum | Hypotonia | Infantile onset | Intellectual disability | Long face | Microcephaly | Precocious puberty | Scoliosis | Seizure | Spasticity | Strabismus | Ventriculomegaly | Wide nasal bridge | X-linked dominant inheritance | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | X連鎖顕性遺伝 | ジスキネジア | 上口唇裂 | 上向きの鼻孔 | 両眼隔離 | 二分した口蓋垂 | 体重減少 | 側弯 | 口蓋裂 | 多動 | 小頭 | 幅広い鼻梁 | 幅広歩行 | 思春期早発 | 攻撃的行動 | 斜視 | 球状の鼻 | 痙性 | 発作 | 知的障害 | 短頭 | 筋緊張低下 | 肺動脈弁異形成 | 脳室拡大 | 脳梁低形成 | 行動異常 | 長い顔 | 難聴" ] }, { "id": "NANDO:2200374", "label_en": "21-Hydroxylase deficiency", "label_ja": "21-水酸化酵素欠損症", "yomigana": "21すいさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200374", "notificationNumber": "59", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100134", "symptoms_en_list": [ "Abnormal external genitalia morphology | Abnormal thorax morphology | Abnormality of the menstrual cycle | Accelerated skeletal maturation | Acne | Adrenal hyperplasia | Adrenogenital syndrome | Ambiguous genitalia | Ambiguous genitalia", "female | Aplasia of the uterus | Autosomal recessive inheritance | Clitoral hypertrophy | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Decreased fertility | Decreased testicular size | Dehydration | Elevated urinary epinephrine level | Failure to thrive | Feeding difficulties | Fever | Frontal balding | Growth abnormality | Gynecomastia | Hirsutism | Hyperactive renin-angiotensin system | Hyperkalemia | Hyperkalemic metabolic acidosis | Hypernatriuria | Hypertension | Hypocapnia | Hypochloremia | Hypoglycemia | Hypogonadotropic hypogonadism | Hyponatremia | Hypospadias | Hypotension | Hypovolemia | Increased circulating ACTH level | Long penis | Miscarriage | Neonatal hypoglycemia | Oligomenorrhea | Precocious puberty in females | Premature adrenarche | Premature fusion of the radial epiphyseal plates | Premature pubarche | Primary adrenal insufficiency | Recurrent fever | Renal salt wasting | Short stature | Tall stature | Urogenital sinus anomaly | Vomiting | Weight loss" ], "symptoms_ja_list": [ "?瘡 | レニン-アンギオテンシン系活動亢進 | 低アルドステロン症 | 低クロール血症 | 低ゴナドトロピン性性腺機能低下症 | 低ナトリウム血症 | 低二酸化炭素症 | 低血圧 | 低血糖 | 低身長 | 体重喪失 | 前頭部禿頭 | 副腎性器症候群 | 副腎皮質性思春期早発 | 副腎過形成 | 原発性副腎不全 | 嘔吐 | 外性器異常 | 多毛 | 女性での思春期早発 | 女性型乳房 | 妊孕性減少 | 子宮無形成 | 尿中エピネフリン上昇 | 尿道下裂 | 希発月経 | 常染色体潜性遺伝 | 循環性ACTH 値増加 | 循環性コルチゾール値減少 | 循環血液量減少 | 性別不明の外性器 | 性別不明の外性器", "女性 | 恥毛早発 | 成長異常 | 成長障害 (成長不全) | 新生児低血糖 | 早発性橈骨骨端板癒合 | 月経周期異常 | 泌尿生殖洞奇形 | 発熱 | 発熱エピソード | 精巣サイズ減少 | 胸郭の異常 | 脱水 | 腎性塩類喪失 | 自然流産 | 陰核肥大 | 陰茎拡大 | 食餌摂取障害 | 骨成熟促進 | 高カリウム血症 | 高カリウム血症性代謝性アシドーシス | 高ナトリウム尿 | 高血圧 | 高身長" ] }, { "id": "NANDO:1200663", "label_en": "Mowat-Wilson syndrome", "label_ja": "モワット・ウィルソン症候群", "yomigana": "もわっと・うぃるそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200663", "notificationNumber": "178", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abdominal distention | Abnormal cardiac septum morphology | Abnormal cerebral white matter morphology | Abnormal corpus callosum morphology | Abnormal dental morphology | Abnormal enteric ganglion morphology | Abnormal eye morphology | Abnormal heart morphology | Abnormality of the eye | Abnormality of the genital system | Abnormality of the kidney | Absent speech | Adducted thumb | Aganglionic megacolon | Agenesis of cerebellar vermis | Agenesis of corpus callosum | Anterior plagiocephaly | Anxiety | Aortic valve stenosis | Aplasia/Hypoplasia of the cerebral white matter | Asplenia | Astigmatism | Ataxia | Atrial septal defect | Atypical absence seizure | Autosomal dominant inheritance | Axenfeld anomaly | Bicuspid aortic valve | Bifid scrotum | Bifid uvula | Bowel incontinence | Broad columella | Broad eyebrow | Broad hallux | Broad-based gait | Bruxism | Calcaneovalgus deformity | Camptodactyly | Cataract | Cerebellar vermis hypoplasia | Chordee | Chorioretinal coloboma | Cleft palate | Coarctation of aorta | Conductive hearing impairment | Constipation | Cryptorchidism | Cupped ear | Decreased body weight | Decreased circulating immunoglobulin concentration | Deeply set eye | Delayed eruption of teeth | Delayed fine motor development | Delayed skeletal maturation | Delayed speech and language development | Dental crowding | Depressed nasal tip | Developmental regression | Downslanted palpebral fissures | Drooling | Dysphagia | EEG with generalized slow activity | EEG with spike-wave complexes | Ectopia pupillae | Enlarged cerebellum | Enterocolitis | Esotropia | Everted lower lip vermilion | Expressive aphasia | Flexion contracture | Focal white matter lesions | Focal-onset seizure | Gastrointestinal dysmotility | Generalized hypotonia | Generalized muscle hypertrophy | Genu valgum | Gingival overgrowth | Growth delay | Hallux valgus | Horizontal eyebrow | Hydrocele testis | Hydronephrosis | Hypertelorism | Hypoplasia of the corpus callosum | Hypospadias | Hypotonia | Impaired pain sensation | Inability to walk | Iris coloboma | Large basal ganglia | Large earlobe | Long face | Long toe | Low hanging columella | Mandibular prognathia | Microcephaly | Microcornea | Micropenis | Microphthalmia | Moderate intellectual disability | Morphological central nervous system abnormality | Motor delay | Motor stereotypy | Multicystic kidney dysplasia | Myopia | Neurodevelopmental delay | Nystagmus | Oligomenorrhea | Open mouth | Patent ductus arteriosus | Pectus carinatum | Pectus excavatum | Pelvic kidney | Periventricular heterotopia | Pes planus | Pointed chin | Polymicrogyria | Posteriorly rotated ears | Prominent nasal tip | Ptosis | Pulmonary artery sling | Pulmonary artery stenosis | Pulmonic stenosis | Pyloric stenosis | Recurrent fractures | Recurrent infections | Recurrent otitis media | Reduced social responsiveness | Renal duplication | Retinal coloboma | Scoliosis | Seizure | Sensorineural hearing impairment | Septate vagina | Severe intellectual disability | Short stature | Sleep disturbance | Spasticity | Status epilepticus | Strabismus | Submucous cleft hard palate | Supernumerary nipple | Syndactyly | Tapered finger | Telecanthus | Tetralogy of Fallot | Thick lower lip vermilion | Tooth malposition | Tracheal stenosis | Ulnar deviation of the hand | Uplifted earlobe | Urinary incontinence | Ventricular septal defect | Ventriculomegaly | Vesicoureteral reflux | Vomiting | Wide nasal bridge | Widely spaced teeth" ], "symptoms_ja_list": [ "Axenfeld 奇形 | Fallot 四徴症 | てんかん重積 | はと胸 | コップ状耳 | コロボーマ | 下口唇唇紅部外反 | 下顎突出 | 不安 | 両眼隔離 | 中枢神経の形態異常 | 乱視 | 二分した口蓋垂 | 二分陰嚢 | 二弁性大動脈弁 | 伝音難聴 | 低い垂れ下がった鼻小柱 | 低ガンマグロブリン血症 | 低身長 | 体重減少 | 便秘 | 停留精巣 | 側弯 | 先細りの指 | 全般性徐活動を伴う脳波 | 全身性筋緊張低下 | 全身性筋肥大 | 内斜視 | 内眼角外方偏位 | 内転母指 | 分厚い下口唇唇紅部 | 前方斜頭 | 副甲状腺乳頭 | 動脈管開存症 | 反復性中耳炎 | 反復性感染症 | 反復性骨折 | 口蓋裂 | 合指趾症 | 嘔吐 | 嚥下障害 | 外反母趾 | 外反膝 | 外反踵骨変形 | 多嚢胞腎異形成 | 多小脳回 | 大きな基底核 | 大きな耳朶 | 大動脈弁狭窄 | 大動脈縮窄 | 大脳白質の異常 | 大脳白質無形成/低形成 | 小眼球 | 小脳拡大 | 小脳虫部低形成 | 小脳虫部無発生 | 小腸結腸炎 | 小角膜 | 小陰茎 | 小頭 | 尖った下顎 | 尿道下裂 | 尿道索 | 屈指 | 屈曲拘縮 | 巣状白質病変 | 希発月経 | 常同行動 | 常染色体顕性遺伝 | 幅広い母趾 | 幅広い眉毛 | 幅広い鼻小柱 | 幅広い鼻梁 | 幅広歩行 | 幽門狭窄 | 心中隔 | 心室中隔欠損 | 心形態の異常 | 心房中隔欠損 | 性器異常 | 感音難聴 | 成長遅滞 | 扁平足 | 手の尺側偏位 | 持ち上がった耳朶 | 斜視 | 棘波複合を伴う脳波 | 歩行不能 | 歯ぎしり | 歯不正配列 | 歯形態異常 | 歯混雑 | 歯肉過成長 | 歯萠出遅延 | 歯間隔離 | 気管狭窄 | 水平眉毛 | 水腎症 | 流涎 | 漏斗胸 | 無神経節性巨大結腸 | 無脾症 | 焦点性発作 | 異所性瞳孔 pupillae | 痙性 | 痛覚障害 | 発作 | 発語および言語発達遅延 | 発語欠損 | 発達退行 | 白内障 | 目立つ鼻尖 | 眼の異常 | 眼形態の異常 | 眼振 | 眼瞼下垂 | 眼瞼裂斜下 | 睡眠障害 | 知的障害", "中道動脈瘤 | 知的障害", "重度 | 社会的相互関係障害 | 神経発生遅延 | 筋緊張低下 | 粘膜下硬口蓋裂 | 網膜コロボーマ | 繊細運動発達遅延 | 耳介後方回転 | 肺動脈スリング | 肺動脈狭窄 | 胃腸蠕動運動異常 | 脈絡膜網膜コロボーマ | 脳室周囲異所性灰白質 | 脳室拡大 | 脳梁の異常 | 脳梁低形成 | 脳梁無発生 of | 腎異常 | 腎重複 | 腸神経節の異常 | 腹部膨満 | 膀胱尿管逆流 | 膣中隔 | 落ちくぼんだ眼 | 落ちくぼんだ鼻尖 | 近視 | 運動失調 | 運動性失語 | 運動発達遅滞 | 遺尿 | 遺糞症 | 長い趾 | 長い顔 | 開口 | 陰嚢水腫 | 非典型的欠伸発作 | 骨格骨化遅延 | 骨盤腎" ] }, { "id": "NANDO:2200175", "label_en": "Calyceal diverticulum", "label_ja": "腎杯憩室", "yomigana": "じんぱいけいしつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200175", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100064", "label_en": "Constrictive pericarditis", "label_ja": "収縮性心膜炎", "yomigana": "しゅうしゅくせいしんまくえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100064", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201040", "label_en": "Bronchomalacia", "label_ja": "気管支軟化症", "yomigana": "きかんしなんかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201040", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201388", "label_en": "ADTKD-MUC1", "label_ja": "ADTKD-MUC1", "yomigana": "えーでぃーてぃーけーでぃーえむゆーしー1", "url": "http://nanbyodata.jp/ontology/NANDO_2201388", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100298", "symptoms_en_list": [ "Adult onset | Anemia | Autosomal dominant inheritance | Cerebral cortical atrophy | Decreased glomerular filtration rate | Elevated circulating creatinine concentration | Glomerular sclerosis | Gout | Hypertension | Hyperuricemia | Hypotension | Impaired renal uric acid clearance | Renal cortical atrophy | Renal corticomedullary cysts | Renal hypoplasia | Renal salt wasting | Renal tubular atrophy | Stage 5 chronic kidney disease | Tubular basement membrane disintegration | Tubulointerstitial fibrosis | Tubulointerstitial nephritis" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | 低血圧 | 大脳皮質萎縮 | 尿細管基底膜の崩壊 | 尿細管萎縮 | 尿細管間質 線維症 | 尿細管間質性腎炎 | 常染色体顕性遺伝 | 糸球体濾過率減少 | 糸球体硬化症 | 腎低形成 | 腎尿酸クリアランス障害 | 腎性塩類喪失 | 腎皮質萎縮 | 腎皮質髄質嚢胞 | 血清クレアチン症状 | 貧血 | 通風 | 高尿酸血症 | 高血圧" ] }, { "id": "NANDO:2200597", "label_en": "Dopamine beta hydroxylase deficiency", "label_ja": "ドーパミンβ-水酸化酵素欠損症", "yomigana": "どーぱみんべーたすいさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200597", "notificationNumber": "53", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100170", "symptoms_en_list": [ "Abnormal EKG | Anemia | Atrial fibrillation | Autosomal recessive inheritance | Bilateral ptosis | Blurred vision | Brachydactyly | Chest pain | Congenital onset | Dehydration | Diarrhea | Diminished deep tendon reflex | Dyspnea | Elevated circulating creatinine concentration | Elevated urinary dopamine level | Exercise-induced muscle fatigue | Fatigue | High palate | Hyperinsulinemia | Hypoglycemia | Hypomagnesemia | Hyporeflexia | Hypothermia | Hypotonia | Increased blood urea nitrogen | Insulin resistance | Intermittent hypothermia | Joint hypermobility | Nasal congestion | Neonatal hypoglycemia | Nocturia | Orthostatic hypotension | Orthostatic syncope | Ptosis | Reduced circulating prolactin concentration | Retrograde ejaculation | Rhinitis | Seizure | Sleep disturbance | Syncope | Vertigo | Vomiting" ], "symptoms_ja_list": [ "インスリン抵抗性 | プロラクチン欠乏症 | 下痢 | 両側性眼瞼下垂 | 低マグネシウム血症 | 低体温 | 低血糖 | 共通 | 反射低下 | 呼吸困難 | 嘔吐 | 夜尿 | 失心 | 尿中ドパミン上昇 | 常染色体潜性遺伝 | 心房細動 | 心電図異常 | 新生児低血糖 | 疲労 | 発作 | 眩暈 | 眼瞼下垂 | 睡眠障害 | 短指症候群 | 筋緊張低下 | 脱水 | 腱反射減少 | 血中尿素窒素(BUN)増加 | 血清クレアチン症状 | 視力障害(霧視、かすみ目) | 貧血 | 起立性低血圧 | 起立性失心 | 逆行性射精 | 運動誘発性筋疲労 | 間歇的低体温 | 関節過動 | 高インスリン血症 | 高口蓋 | 鼻炎 | 鼻閉" ] }, { "id": "NANDO:2200584", "label_en": "Acrodermatitis enteropathica", "label_ja": "先天性腸性肢端皮膚炎", "yomigana": "せんてんせいちょうせいしたんひふえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200584", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100167", "symptoms_en_list": [ "Abnormal T cell physiology | Abnormal blistering of the skin | Abnormal eyebrow morphology | Abnormal eyelid morphology | Abnormal nail morphology | Abnormality of the tongue | Alopecia | Alopecia of scalp | Anorexia | Ataxia | Autosomal recessive inheritance | Blepharitis | Cerebral cortical atrophy | Cheilitis | Childhood onset | Chronic diarrhea | Conjunctivitis | Corneal erosion | Decreased circulating alkaline phosphatase activity | Decreased testicular size | Diarrhea | Dry skin | Emotional lability | Erythema | Failure to thrive | Furrowed tongue | Generalized abnormality of skin | Glossitis | Hepatomegaly | Hypogeusia | Hypogonadism | Infantile onset | Irritability | Lethargy | Malabsorption | Paronychia | Photophobia | Poor appetite | Pustule | Recurrent Candida infection | Ridged fingernail | Ridged nail | Short stature | Skin ulcer | Splenomegaly | Tremor | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "T 細胞生理の異常 | アルカリホスファターゼ低値 | 下痢 | 乾いた皮膚 | 低身長 | 体重喪失 | 全身性皮膚異常 | 反復性カンジダ感染症 | 口唇炎 | 吸収障害 | 味覚減少 | 大脳皮質萎縮 | 常染色体潜性遺伝 | 性腺機能低下症 | 情動不安定 | 慢性下痢 | 成長障害 (成長不全) | 振戦 | 溝舌 | 無気力 | 爪の異常 | 爪周囲炎 | 異常な皮膚水泡 | 皮膚潰瘍 | 眉毛の異常 | 眼瞼の異常 | 眼瞼炎 | 禿頭 | 精巣サイズ減少 | 紅斑 | 結膜炎 | 羞明 | 肝腫 | 脾腫 | 膿疱 | 舌の異常 | 舌炎 | 被刺激性 | 視力障害 | 角膜びらん | 運動失調 | 隆起した指爪 | 隆起した爪 | 頭髪禿頭 | 食思不振" ] }, { "id": "NANDO:2201048", "label_en": "Secondary pulmonary arterial hypertension", "label_ja": "二次性肺動脈性肺高血圧症", "yomigana": "にじせいはいどうみゃくせいはいこうけつあつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201048", "notificationNumber": "83", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100103", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200750", "label_en": "obsolete Cohen syndrome", "label_ja": "obsolete Cohen症候群", "yomigana": "こーえんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200750", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201063", "label_en": "obsolete Familial amyloid polyneuropathy type 4", "label_ja": "obsolete 家族性アミロイドニューロパチーIV型", "yomigana": "かぞくせいあみろいどにゅーろぱちー4がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201063", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200585", "label_en": "Ataxia, delayed dentition, and hypomyelination syndrome", "label_ja": "失調、歯牙低形成を伴う髄鞘形成不全症", "yomigana": "しっちょう、しがていけいせいをともなうずいしょうけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200585", "notificationNumber": "139", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of ocular smooth pursuit | Ataxia | Autosomal recessive inheritance | Babinski sign | CNS hypomyelination | Cerebellar atrophy | Cerebral cortical atrophy | Childhood onset | Congenital onset | Death in early adulthood | Delayed puberty | Developmental regression | Drooling | Dysarthria | Dysmetria | Dysphagia | Dystonia | Gaze-evoked nystagmus | Global developmental delay | Hyperreflexia | Hypodontia | Hypogonadotropic hypogonadism | Hypoplasia of the corpus callosum | Infantile onset | Juvenile onset | Leukodystrophy | Loss of ambulation | Myopia | Oligodontia | Optic atrophy | Peripheral neuropathy | Postural tremor | Progressive | Seizure | Short stature | Spasticity | Tremor | Vertical supranuclear gaze palsy" ], "symptoms_ja_list": [ "Babinski サイン | ジストニア | ロイコジストロフィー | 中枢神経髄鞘形成低下 | 乏歯症 | 低ゴナドトロピン性性腺機能低下症 | 低身長 | 全般性発達遅滞 | 円滑的追跡眼球運動の異常 | 反射亢進 | 嚥下障害 | 垂直性核上性注視麻痺 | 大脳皮質萎縮 | 姿勢性振戦 | 小脳萎縮 | 常染色体潜性遺伝 | 思春期遅発 | 振戦 | 末梢神経ニューロパチー | 構音障害 | 注視誘発性眼振 | 流涎 | 減歯症 | 測定障害 | 痙性 | 発作 | 発達退行 | 脳梁低形成 | 視神経萎縮 | 近視 | 進行性歩行不安定 | 運動失調" ] }, { "id": "NANDO:1200666", "label_en": "Crouzon's syndrome", "label_ja": "クルーゾン症候群", "yomigana": "くるーぞんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200666", "notificationNumber": "181", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [ "Abnormal facial shape | Abnormal sacrum morphology | Abnormal skull morphology | Abnormality of the cervical spine | Acanthosis nigricans | Amblyopia | Atresia of the external auditory canal | Autosomal dominant inheritance | Brachycephaly | Cerebellar hypoplasia | Chiari malformation | Choanal atresia | Conductive hearing impairment | Conjunctivitis | Convex nasal ridge | Coronal craniosynostosis | Craniofacial dysostosis | Dental crowding | Deviated nasal septum | Dysgerminoma | Frontal bossing | Headache | Hearing impairment | High forehead | High palate | Hydrocephalus | Hypertelorism | Hypopigmented skin patches | Hypoplasia of the maxilla | Increased intracranial pressure | Intellectual disability | Iris coloboma | Keratitis | Lambdoidal craniosynostosis | Mandibular prognathia | Melanocytic nevus | Midface retrusion | Multiple suture craniosynostosis | Narrow internal auditory canal | Narrow palate | Optic atrophy | Proptosis | Ptosis | Respiratory insufficiency | Sagittal craniosynostosis | Seizure | Shallow orbits | Sleep apnea | Strabismus | Turricephaly | Visual impairment" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | コロボーマ | メラニン細胞母斑 | 上顎低形成 | 下顎突出 | 両眼隔離 | 人字縫合早期癒合 | 仙骨の異常 | 伝音難聴 | 低色素性皮膚斑 | 冠状縫合早期癒合 | 凸の鼻梁 | 前頭突出", "額突出 | 呼吸不全 | 塔状頭 | 外耳道閉鎖 | 多発性頭蓋骨縫合早期癒合 | 小脳低形成 | 常染色体顕性遺伝 | 弱視 | 後鼻孔閉鎖 | 斜視 | 未分化胚細胞腫 | 歯混雑 | 水頭症 | 浅い眼窩 | 狭い内耳道 | 狭い口蓋 | 異常な顔の形 | 発作 | 眼球突出 | 眼瞼下垂 | 睡眠時無呼吸 | 矢状縫合早期癒合 | 知的障害 | 短頭 | 結膜炎 | 視力障害 | 視神経萎縮 | 角膜炎 | 難聴 | 頚椎の異常 | 頭痛 | 頭蓋内圧の増加 | 頭蓋顔面異骨症 | 頭蓋骨の異常 | 顔面中部後退 | 高い額 | 高口蓋 | 黒色表皮腫 | 鼻中隔彎曲" ] }, { "id": "NANDO:2200857", "label_en": "Emery-Dreifuss muscular dystrophy", "label_ja": "エメリー・ドレイフス型筋ジストロフィー", "yomigana": "えめりー・どれいふすがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200857", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [ "Achilles tendon contracture | Atrioventricular block | Back pain | Decreased cervical spine flexion due to contractures of posterior cervical muscles | Dilated cardiomyopathy | Diminished deep tendon reflex | EMG: myopathic abnormalities | Elbow flexion contracture | Elevated circulating LDL-C concentration | Elevated circulating creatine kinase activity | Gait disturbance | Hyperlordosis | Hypertriglyceridemia | Hypertrophic cardiomyopathy | Hypotonia | Ichthyosis | Intellectual disability | Joint stiffness | Kyphosis | Limb-girdle muscular dystrophy | Lipodystrophy | Myopathy | Myotonia | Obesity | Pectus excavatum | Proximal lower limb amyotrophy | Proximal lower limb muscle weakness | Proximal upper limb amyotrophy | Proximal upper limb muscle weakness | Ptosis | Respiratory insufficiency due to muscle weakness | Rimmed vacuoles | Scapular winging | Scoliosis | Spinal rigidity | Sprengel anomaly | Sudden cardiac death | Supraventricular arrhythmia | Type 1 muscle fiber atrophy | Ventricular escape rhythm | Vocal cord paralysis | Waddling gait" ], "symptoms_ja_list": [ "1型筋線維萎縮 | Sprengel 奇形 | よたつき歩行 | アキレス腱拘縮 | ミオトニア | ミオパチー | リポジストロフィー | 上室性不整脈 | 上肢の近位筋虚弱 | 下肢の近位筋虚弱 | 側弯 | 前弯 | 声帯麻痺 | 後弯 | 後頚部筋拘縮による頚椎屈曲減少 | 心室性補充調律 | 房室ブロック | 拡張型心筋症 | 歩行障害 | 漏斗胸 | 眼瞼下垂 | 知的障害 | 突然心臓死 | 筋緊張低下 | 筋虚弱による呼吸不全 | 筋電図: ミオパチー異常 | 縁取り空胞 | 翼状肩甲骨 | 肘屈曲拘縮 | 肢帯筋ジストロフィー | 肥大型心筋症 | 肥満 | 背部痛 | 脊椎強直 | 腱反射減少 | 血清 creatine phosphokinase上昇 | 近位上肢筋萎縮 | 近位下肢筋萎縮 | 関節拘縮 | 高βリポタンパク血症 | 高トリグリセリド血症 | 魚鱗癬" ] }, { "id": "NANDO:1200376", "label_en": "Syndrome of inappropriate secretion of antidiuretic hormone", "label_ja": "抗利尿ホルモン不適切分泌症候群", "yomigana": "こうりにょうほるもんふてきせつぶんぴつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200376", "notificationNumber": "72", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200978", "label_en": "Simpson-Golabi-Behmel syndrome", "label_ja": "シンプソン・ゴラビ・ベーメル症候群", "yomigana": "しんぷそん・ごらび・べーめるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200978", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal helix morphology | Abnormal rib morphology | Abnormal speech pattern | Abnormality of the voice | Accelerated skeletal maturation | Agenesis of corpus callosum | Anteverted nares | Aplasia/Hypoplasia of the abdominal wall musculature | Atrial septal defect | Broad foot | Broad thumb | Bundle branch block | Camptodactyly of finger | Cardiomyopathy | Cleft palate | Cleft upper lip | Clinodactyly of the 5th finger | Coarse facial features | Congenital diaphragmatic hernia | Congenital hip dislocation | Cryptorchidism | Dandy-Walker malformation | Death in infancy | Downslanted palpebral fissures | Epicanthus | Finger syndactyly | Global developmental delay | Hepatoblastoma | Hepatomegaly | High", "narrow palate | Hoarse voice | Hydronephrosis | Hydroureter | Hypertelorism | Hypoglycemia | Hypoplasia of penis | Hypospadias | Hypotonia | Increased circulating IgE concentration | Inguinal hernia | Intellectual disability | Macrocephaly | Macroglossia | Mandibular prognathia | Multicystic kidney dysplasia | Nail dysplasia | Neoplasm | Nephroblastoma | Neuroblastoma | Omphalocele | Pancreatic islet-cell hyperplasia | Pectus excavatum | Polyhydramnios | Polysplenia | Postaxial hand polydactyly | Posteriorly rotated ears | Prolonged QT interval | Scoliosis | Seizure | Short 2nd finger | Short foot | Short neck | Short nose | Short toe | Small nail | Splenomegaly | Supernumerary nipple | Talipes equinovarus | Tall stature | Toe syndactyly | Umbilical hernia | Ureteral duplication | Ventricular septal defect | Vertebral fusion | Vertebral segmentation defect | Webbed neck | Wide mouth | Wide nasal bridge" ], "symptoms_ja_list": [ "Dandy-Walker 奇形 | IgE 値増加 | 上口唇裂 | 上向きの鼻孔 | 下顎突出 | 両眼隔離 | 低血糖 | 停留精巣 | 側弯 | 先天性横隔膜ヘルニア | 先天性股関節脱臼 | 全般性発達遅滞 | 内反尖足 | 内眼角贅皮 | 副甲状腺乳頭 | 口蓋裂 | 合指症 | 合趾症 | 嗄声 | 声の異常 | 外耳輪の異常 | 多嚢胞腎異形成 | 多脾症 | 大頭 | 小さい爪 | 尿管重複 | 尿道下裂 | 屈指 | 巨舌 | 幅広い口 | 幅広い母指 | 幅広い足 | 幅広い鼻梁 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 心筋症 | 新生物 | 水尿管症 | 水腎症 | 漏斗胸 | 爪異形成 | 発作 | 眼瞼裂斜下 | 知的障害 | 短い第2指 | 短い足 | 短い趾 | 短い頸部 | 短い鼻 | 神経学的発語障害 | 神経芽腫 | 第5指弯指 | 筋緊張低下 | 粗な顔貌 | 羊水過多 | 翼状頚 | 耳介後方回転 | 肋骨の異常 | 肝腫 | 肝芽腫 | 脊椎分節異常 | 脊椎骨癒合 | 脚ブロック | 脳梁無発生 of | 脾腫 | 腎芽腫 (Wilms 腫瘍) | 腹壁筋無形成/低形成 | 膵頭部細胞過形成 | 臍ヘルニア | 臍帯ヘルニア | 軸後性多指症 | 遷延性 QT 間隔 | 陰茎低形成 | 骨成熟促進 | 高狭口蓋 | 高身長 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201097", "label_en": "Neonatal-onset argininosuccinic aciduria", "label_ja": "新生児期発症型アルギニノコハク酸尿症", "yomigana": "しんせいじきはっしょうがたあるぎにのこはくさんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201097", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200894", "label_en": "Severe Epstein syndrome", "label_ja": "最重症型エプスタイン症候群", "yomigana": "さいじゅうしょうがたえぷすたいんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200894", "notificationNumber": "287", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200052", "label_en": "Hereditary spastic paraplegia", "label_ja": "痙性対麻痺", "yomigana": "けいせいついまひ", "url": "http://nanbyodata.jp/ontology/NANDO_1200052", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200811", "label_en": "Phenocopies of primary immunodeficiency", "label_ja": "後天的な免疫系障害による免疫不全症", "yomigana": "こうてんてきなめんえきけいしょうがいによるめんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200811", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100212", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200155", "label_en": "Adult neuronal ceroid lipofuscinosis", "label_ja": "成人型神経セロイドリポフスチン症", "yomigana": "せいじんがたしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200155", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200055", "label_en": "Peripheral primitive neuroectodermal tumors", "label_ja": "末梢性未分化神経外胚葉性腫瘍", "yomigana": "まっしょうせいみぶんかしんけいがいはいようせいしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200055", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abdominal distention | Abnormal bleeding | Abnormal scalp morphology | Abnormal superior cerebellar peduncle morphology | Abnormal thoracic spine morphology | Anemia | Anorexia | Ascites | Back pain | Elevated circulating alpha-fetoprotein concentration | Episodic abdominal pain | Headache | Hyporeflexia | Jaundice | Lower limb muscle weakness | Metrorrhagia | Nausea and vomiting | Neoplasm of the pancreas | Neoplasm of the scrotum | Ovarian neoplasm | Pancreatitis | Precocious puberty | Proptosis | Pruritus | Seizure | Somatic sensory dysfunction | Spinal cord tumor | Torticollis | Upper limb pain | Uterine neoplasm | Vertigo | Weight loss" ], "symptoms_ja_list": [ "α-フェトプロテイン上昇 | 上小脳脚の異常 | 上肢痛 | 下肢筋虚弱 | 不正子宮出血 | 体重喪失 | 卵巣新生物 | 反射低下 | 吐気と 嘔吐 | 子宮新生物 | 思春期早発 | 感覚障害 | 掻痒 | 斜頚 | 異常な出血 | 発作 | 眩暈 | 眼球突出 | 背部痛 | 胸椎の異常 | 脊髄腫瘍 | 腹水 | 腹痛エピソード | 腹部膨満 | 膵新生物 | 膵炎 | 貧血 | 陰嚢新生物 | 頭痛 | 頭皮の異常 | 食思不振 | 黄疸" ] }, { "id": "NANDO:1200781", "label_en": "Vitamin D-dependent rickets / Osteomalacia", "label_ja": "ビタミンD依存性くる病/骨軟化症", "yomigana": "びたみんでぃーいぞんせいくるびょう/こつなんかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200781", "notificationNumber": "239", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200261", "label_en": "Polyarteritis nodosa", "label_ja": "結節性多発動脈炎", "yomigana": "けっせつせいたはつどうみゃくえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200261", "notificationNumber": "42", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal cardiovascular system morphology | Abnormal lung morphology | Abnormal skin morphology | Abnormality of the eye | Abnormality of the gastrointestinal tract | Abnormality of the kidney | Abnormality of the nervous system | Arthralgia | Cardiomyopathy | Cutis marmorata | Elevated circulating C-reactive protein concentration | Erythema | Fever | Hypertension | Morphological central nervous system abnormality | Myalgia | Pericarditis | Peripheral neuropathy | Pleuritis | Polyarticular arthritis | Sensory axonal neuropathy | Skin ulcer | Subcutaneous nodule | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | 中枢神経の形態異常 | 体重喪失 | 多関節関節炎 | 大理石皮膚 | 循環器系の形態異常 | 心外膜炎 | 心筋症 | 感覚性軸索ニューロパチー | 末梢神経ニューロパチー | 発熱 | 皮下結節 | 皮膚形態の異常 | 皮膚潰瘍 | 眼の異常 | 神経系の異常 | 筋痛 | 紅斑 | 肺の異常 | 胃腸管の異常 | 胸膜炎 | 腎異常 | 腹痛 | 関節痛 | 高血圧" ] }, { "id": "NANDO:2200456", "label_en": "RBCK1 deficiency", "label_ja": "RBCK1欠損症", "yomigana": "あーるびーしーけー1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200456", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201060", "label_en": "obsolete Familial amyloid polyneuropathy type 1", "label_ja": "obsolete 家族性アミロイドニューロパチーI型", "yomigana": "かぞくせいあみろいどにゅーろぱちー1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201060", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200949", "label_en": "Progressive leukoencephalopathy", "label_ja": "進行性白質脳症", "yomigana": "しんこうせいはくしつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200949", "notificationNumber": "308", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200292", "label_en": "Other vascular ring", "label_ja": "77及び78に掲げるもののほか、血管輪", "yomigana": "77および78にかかげるもののほか、けっかんりん", "url": "http://nanbyodata.jp/ontology/NANDO_2200292", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100100", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200550", "label_en": "Semantic dementia", "label_ja": "意味性認知症", "yomigana": "いみせいにんちしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200550", "notificationNumber": "127", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal diminished volition | Abnormal sexual behavior | Abnormal speech pattern | Abulia | Alexia | Amyotrophic lateral sclerosis | Apathy | Aphasia | Autosomal dominant inheritance | Brain atrophy | Dementia | Disinhibition | Dysgraphia | Dyslexia | Frontal lobe dementia | Frontotemporal dementia | Hyperorality | Inappropriate laughter | Irritability | Language impairment | Middle age onset | Neuronal loss in central nervous system | Parkinsonism | Personality changes | Polyphagia | Primitive reflex" ], "symptoms_ja_list": [ "Dementia | パーキンソン症候群 | 不適切な性的行動 | 不適切な笑い | 中枢神経のニューロン喪失 | 前頭側頭葉認知症 | 前頭葉認知症 | 動機づけの減少 | 原始反射 (掌頤", "口とがらせ", "眉間) | 口愛過度 | 失語症 | 失読症 | 失読症. | 常染色体顕性遺伝 | 性格変化 | 書字障害 | 無為 | 無関心", "感情鈍磨 | 神経学的発語障害 | 筋萎縮性側索硬化症 | 脱抑制 | 脳萎縮 | 被刺激性 | 言語障害 | 過食症" ] }, { "id": "NANDO:2200122", "label_en": "Mesangial proliferative glomerulonephritis", "label_ja": "メサンギウム増殖性糸球体腎炎", "yomigana": "めさんぎうむぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200122", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200158", "label_en": "Multicystic dysplastic kidney", "label_ja": "多嚢胞性異形成腎", "yomigana": "たのうほうせいいけいせいじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200158", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Abdominal distention | Cryptorchidism | Enlarged kidney | Horseshoe kidney | Hypertension | Multicystic kidney dysplasia | Neonatal respiratory distress | Oligohydramnios | Premature birth | Unilateral renal agenesis | Ureterocele | Ureteropelvic junction obstruction | Vesicoureteral reflux" ], "symptoms_ja_list": [ "停留精巣 | 多嚢胞腎異形成 | 尿管瘤 | 尿管腎盂接合部閉塞 | 新生児呼吸窮迫 | 早産 | 片側性腎無発生 | 羊水過少 | 腎拡大 | 腹部膨満 | 膀胱尿管逆流 | 馬蹄腎 | 高血圧" ] }, { "id": "NANDO:1200294", "label_en": "Secondary restrictive cardiomyopathy", "label_ja": "二次性拘束型心筋症", "yomigana": "にじせいこうそくがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200294", "notificationNumber": "59", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200226", "label_en": "Neurofibromatosis type 1", "label_ja": "神経線維腫症I型", "yomigana": "しんけいせんいしゅしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200226", "notificationNumber": "34", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal electroretinogram | Abnormal eyelid morphology | Abnormal hair quantity | Abnormal hip bone morphology | Abnormal retinal pigmentation | Abnormal speech pattern | Abnormality of the endocrine system | Abnormality of the eye | Abnormality of the nervous system | Abnormality of the respiratory system | Abnormality of the skeletal system | Abnormality of the upper urinary tract | Abnormality of vision | Aqueductal stenosis | Arterial stenosis | Astrocytoma | Ataxia | Atrial septal defect | Attention deficit hyperactivity disorder | Autistic behavior | Autosomal dominant inheritance | Axillary freckling | Breast carcinoma | Carcinoid tumor | Cataract | Cerebellar glioma | Childhood onset | Chorioretinal coloboma | Chronic myelogenous leukemia | Coarctation of aorta | Colon cancer | Corneal opacity | Cryptorchidism | Delayed puberty | Downslanted palpebral fissures | Embryonal rhabdomyosarcoma | Few cafe-au-lait spots | Freckling | Gastrointestinal stroma tumor | Generalized hyperpigmentation | Genu valgum | Genu varum | Glaucoma | Glioma | Headache | Hearing abnormality | Hearing impairment | Heterochromia iridis | Hydrocephalus | Hypertelorism | Hypertension | Hypertrophic cardiomyopathy | Hypopigmented skin patches | Hypsarrhythmia | Infantile onset | Joint stiffness | Kyphosis | Leukemia | Lipoma | Lisch nodules | Low-set ears | Macrocephaly | Macule | Malignant peripheral nerve sheath tumor | Medullary thyroid carcinoma | Melanocytic nevus | Memory impairment | Meningioma | Mild intellectual disability | Mitral stenosis | Multiple cafe-au-lait spots | Multiple lipomas | Myopia | Neoplasm | Neoplasm of the breast | Neoplasm of the gastrointestinal tract | Neoplasm of the skin | Neurofibroma | Optic nerve glioma | Osteopenia | Overgrowth | Parathyroid adenoma | Paresthesia | Pectus carinatum | Pectus excavatum | Pericarditis | Pheochromocytoma | Plexiform neurofibroma | Precocious puberty | Proptosis | Pulmonic stenosis | Recurrent fractures | Renal artery stenosis | Rhabdomyosarcoma | Sarcoma | Scoliosis | Seizure | Short stature | Skeletal dysplasia | Slender long bone | Specific learning disability | Spina bifida | Spinal neurofibroma | Subcutaneous nodule | Tall stature | Tibial pseudarthrosis | Urinary tract neoplasm | Ventricular septal defect | Visual impairment | Webbed neck" ], "symptoms_ja_list": [ "Lisch 結節 | はと胸 | カルチノイド | ヒプスアリスミア | メラニン細胞母斑 | 上部尿路異常 | 両眼隔離 | 乳房新生物 | 乳房癌 | 二分脊椎 | 低色素性皮膚斑 | 低身長 | 停留精巣 | 側弯 | 僧帽弁狭窄 | 全身性高色素 | 内分泌系異常 | 内反膝 | 副甲状腺腺腫 | 動脈狭窄 | 反復性骨折 | 叢状神経線維腫 | 呼吸器の異常 | 外反膝 | 多発性カフェオーレ斑 | 多発性脂肪腫 | 大動脈縮窄 | 大頭 | 寛骨の異常 | 小脳膠腫 | 少数のカフェオーレ斑 | 尿路新生物 | 常染色体顕性遺伝 | 後弯 | 心外膜炎 | 心室中隔欠損 | 心房中隔欠損 | 思春期早発 | 思春期遅発 | 感覚異常 | 慢性骨髄性白血病 | 斑 | 新生物 | 星状細胞腫 | 横紋筋肉腫 | 水道狭窄 | 水頭症 | 注意力欠陥多動性疾患 | 漏斗胸 | 特異的学習障害 | 甲状腺髄様癌 | 異常な毛髪量 | 発作 | 白内障 | 白血病 | 皮下結節 | 皮膚新生物 | 眼の異常 | 眼球突出 | 眼瞼の異常 | 眼瞼裂斜下 | 知的障害", "軽度 | 神経学的発語障害 | 神経系の異常 | 神経線維肉腫 | 神経線維腫 | 細い長管骨 | 結腸癌 | 網膜色素異常 | 網膜電図異常 | 緑内障 | 翼状頚 | 耳介低位 | 聴覚異常 | 肉腫 | 肥大型心筋症 | 肺動脈狭窄 | 胃腸管新生物 | 胃腸間質腫瘍 | 胎児性平滑筋肉腫 | 脂肪腫 | 脈絡膜網膜コロボーマ | 脊椎神経線維腫 | 脛骨偽関節 | 腋窩色素斑 | 腎動脈狭窄 | 膠腫 | 自閉性行動 | 色素斑 | 虹彩異色症 | 褐色細胞腫 | 視力障害 | 視神経膠腫 | 視覚の異常 | 角膜混濁 | 記憶障害 | 近視 | 運動失調 | 過成長 | 関節拘縮 | 難聴 | 頭痛 | 骨格の異常 | 骨格異形成 | 骨減少症 | 髄膜腫 | 高血圧 | 高身長" ] }, { "id": "NANDO:1100001", "label_en": "Neuromuscular disease", "label_ja": "神経・筋疾患", "yomigana": "しんけい・きんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100001", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201088", "label_en": "Spondylodysplastic Ehlers-Danlos syndrome", "label_ja": "脊椎異形成型エーラス・ダンロス症候群", "yomigana": "せきついいけいがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201088", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal facial shape | Abnormal primary tooth morphology | Abnormal skin pigmentation | Aortic valve stenosis | Arachnodactyly | Atrophic scars | Atypical scarring of skin | Cryptorchidism | Cutis laxa | Epicanthus | Flexion contracture | Gingivitis | Global developmental delay | Growth delay | Hyperextensible skin | Hypotonia | Joint hypermobility | Kyphoscoliosis | Lipodystrophy | Long toe | Macrocephaly | Narrow mouth | Osteopenia | Palmoplantar cutis gyrata | Pes planus | Progeroid facial appearance | Pulmonic stenosis | Short stature | Skeletal dysplasia | Skeletal muscle atrophy | Sparse eyelashes | Sparse scalp hair | Telecanthus | Testicular torsion | Thin skin | Wide nasal bridge" ], "symptoms_ja_list": [ "くも指 | プロゲリア様顔貌 | リポジストロフィー | 乳歯の異常 | 低身長 | 停留精巣 | 全般性発達遅滞 | 内眼角外方偏位 | 内眼角贅皮 | 大動脈弁狭窄 | 大頭 | 屈曲拘縮 | 幅広い鼻梁 | 弛緩性皮膚 | 後側弯 | 成長遅滞 | 扁平足 | 掌蹠脳回状皮膚 | 歯肉炎 | 狭い口 | 異常な顔の形 | 疎な睫毛 | 疎な頭髪 | 皮膚色素の異常 | 筋緊張低下 | 筋萎縮 | 精巣捻転 | 肺動脈狭窄 | 萎縮性瘢痕 | 薄い皮膚 | 過伸展皮膚 | 長い趾 | 関節過動 | 非典型的皮膚瘢痕 | 骨格異形成 | 骨減少症" ] }, { "id": "NANDO:1201120", "label_en": "Shy-Drager syndrome", "label_ja": "シャイ・ドレーガー症候群", "yomigana": "しゃい･どれーがーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201120", "notificationNumber": "17", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal brain FDG positron emission tomography | Abnormal pyramidal sign | Abnormal rapid eye movement sleep | Autonomic bladder dysfunction | Autonomic erectile dysfunction | Axial dystonia | Bradykinesia | Camptocormia | Central sleep apnea | Constipation | Dysarthria | Frequent falls | Gait ataxia | Gaze-evoked nystagmus | Orofacial dyskinesia | Orthostatic hypotension due to autonomic dysfunction | Orthostatic syncope | Parkinsonism | Postural instability | Postural tremor | Progressive cerebellar ataxia | Resting tremor | Rigidity | Stridor" ], "symptoms_ja_list": [ "パーキンソン症候群 | 中枢性睡眠時無呼吸 | 便秘 | 前屈症 | 口顔面ジスキネジア | 喘鳴 | 姿勢不安定 | 姿勢性振戦 | 安静時振戦 | 構音障害 | 歩行失調 | 注視誘発性眼振 | 異常な急速眼球運動 (REM) 睡眠 | 異常な脳 FDG ポジトロンCT | 異常な自律神経生理 | 硬直 | 自律神経性勃起機能障害 | 自律神経性機能障害による起立性低血圧 | 自律神経性膀胱機能障害 | 起立性失心 | 軸性ジストニア | 進行性小脳失調 | 運動緩徐 | 錐体路運動機能の異常 | 頻回の転倒" ] }, { "id": "NANDO:2200545", "label_en": "Glucose transporter 1 deficiency", "label_ja": "グルコーストランスポーター1欠損症", "yomigana": "ぐるこーすとらんすぽーたー1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200545", "notificationNumber": "62", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormal erythrocyte morphology | Apraxia | Ataxia | Autosomal dominant inheritance | Autosomal recessive inheritance | Babinski sign | Central apnea | Childhood onset | Chorea | Choreoathetosis | Confusion | Cyanosis | Delayed speech and language development | Dysarthria | Dyskinesia | Dystonia | EEG abnormality | Encephalopathy | Extrapyramidal dyskinesia | Gait ataxia | Generalized hyperreflexia | Global developmental delay | Headache | Hemiparesis | Hyperreflexia | Hypertonia | Hypoglycorrhachia | Hypotonia | Infantile onset | Intellectual disability | Lethargy | Mild intellectual disability | Moderate intellectual disability | Muscle stiffness | Myoclonus | Paralysis | Paroxysmal dystonia | Paroxysmal involuntary eye movements | Paroxysmal lethargy | Progressive microcephaly | Secondary microcephaly | Seizure | Severe intellectual disability | Short stature | Sleep disturbance | Slurred speech | Spasticity | Specific learning disability | Status epilepticus | Strabismus" ], "symptoms_ja_list": [ "Babinski サイン | てんかん重積 | ジスキネジア | ジストニア | チアノーゼ | ミオクローヌス | 不明瞭言語 | 中枢性無呼吸 | 低身長 | 全般性発達遅滞 | 全身性反射亢進 | 反射亢進 | 失行症 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 斜視 | 構音障害 | 歩行失調 | 無気力 | 片側不全麻痺 | 特異的学習障害 | 生後の小頭 | 痙性 | 発作 | 発作性ジストニア | 発作性不随意性眼球運動 | 発作性無気力 | 発語および言語発達遅延 | 睡眠障害 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "軽度 | 知的障害", "重度 | 筋硬直 | 筋緊張亢進 | 筋緊張低下 | 脳波異常 | 脳症 | 舞踏病 | 舞踏病アテトーゼ | 赤血球の異常 | 進行性小頭 | 運動失調 | 錐体外路ジスキネジア | 錯乱 | 頭痛 | 髄液糖減少症 | 麻痺" ] }, { "id": "NANDO:2201032", "label_en": "Lymphangioma", "label_ja": "リンパ管腫", "yomigana": "りんぱかんしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2201032", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200632", "label_en": "Pemphigoid (including Epidermolysis bullosa acquisita)", "label_ja": "類天疱瘡", "yomigana": "るいてんぽうそう", "url": "http://nanbyodata.jp/ontology/NANDO_1200632", "notificationNumber": "162", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Autoimmunity | Diabetes mellitus | Eczematoid dermatitis | Erythema | Macule | Oral mucosal blisters | Pruritus | Psoriasiform dermatitis | Recurrent infections | Urticaria | Weight loss" ], "symptoms_ja_list": [ "乾癬 | 体重喪失 | 反復性感染症 | 口腔粘膜水泡 | 掻痒 | 斑 | 湿疹 | 異常な皮膚水泡 | 糖尿病 | 紅斑 | 自己免疫 | 蕁麻疹" ] }, { "id": "NANDO:1200146", "label_en": "Free sialic acid storage disease", "label_ja": "遊離シアル酸蓄積症", "yomigana": "ゆうりしあるさんちくせきしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200146", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal facial shape | Abnormal foot morphology | Abnormal pyramidal sign | Abnormal skin pigmentation | Abnormal speech pattern | Abnormality of the upper limb | Aplasia/Hypoplasia of the abdominal wall musculature | Ascites | Ataxia | Athetosis | Dysarthria | Failure to thrive in infancy | Gait disturbance | Global developmental delay | Hepatomegaly | Hydrops fetalis | Hypotonia | Intellectual disability | Iris hypopigmentation | Nephrotic syndrome | Nystagmus | Oculomotor apraxia | Proteinuria | Recurrent respiratory infections | Reduced bone mineral density | Seizure | Skeletal dysplasia | Skin ulcer | Spasticity | Splenomegaly" ], "symptoms_ja_list": [ "アテトーゼ | ネフローゼ症候群 | 上肢の異常 | 乳児期の成長障害 (成長不全) | 全般性発達遅滞 | 反復性呼吸器感染症 | 構音障害 | 歩行障害 | 異常な顔の形 | 痙性 | 発作 | 皮膚潰瘍 | 皮膚色素の異常 | 眼振 | 眼球運動失行症 | 知的障害 | 神経学的発語障害 | 筋緊張低下 | 肝腫 | 胎児水腫 | 脾腫 | 腹壁筋無形成/低形成 | 腹水 | 虹彩低色素 | 蛋白尿 | 足の異常 | 運動失調 | 錐体路運動機能の異常 | 骨ミネラル濃度減少 | 骨格異形成" ] }, { "id": "NANDO:2200090", "label_en": "Medulloblastoma", "label_ja": "髄芽腫", "yomigana": "ずいがしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200090", "notificationNumber": "58", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Abnormal bone marrow cell morphology | Abnormal brain FDG positron emission tomography | Abnormal cranial nerve morphology | Adenomatous colonic polyposis | Ataxia | Autosomal dominant inheritance | Autosomal recessive inheritance | Back pain | Bilateral sensorineural hearing impairment | Cerebellar ataxia associated with quadrupedal gait | Cerebellar calcifications | Cerebellar cyst | Cerebellar hemorrhage | Cerebellar medulloblastoma | Cognitive impairment | Delayed cranial suture closure | Diplopia | Dysmetria | Elevated circulating hepatic transaminase concentration | Global developmental delay | Headache | Hydrocephalus | Increased intracranial pressure | Intention tremor | Irritability | Lethargy | Medulloblastoma | Nausea and vomiting | Neoplasm of the lung | Neuroblastoma | Progressive cerebellar ataxia | Progressive macrocephaly | Progressive visual loss | Spinal cord tumor | Total ophthalmoplegia | Typified by incomplete penetrance | Typified by somatic mosaicism | Vertigo" ], "symptoms_ja_list": [ "両側性感音難聴 | 企図振戦 | 体細胞モザイク | 全眼筋麻痺 | 全般性発達遅滞 | 吐気と 嘔吐 | 四つ足歩行を伴う小脳失調 | 小脳出血 | 小脳嚢胞 | 小脳石灰化 | 小脳髄芽腫 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 水頭症 | 測定障害 | 無気力 | 異常な脳 FDG ポジトロンCT | 眩暈 | 神経芽腫 | 肝トランスアミナーゼ上昇 | 肺新生物 | 背部痛 | 脊髄腫瘍 | 脳神経の異常 | 腺腫性結腸ポリープ症 | 被刺激性 | 複視 | 認知障害 | 進行性大頭 | 進行性小脳失調 | 進行性視力喪失 | 運動失調 | 頭痛 | 頭蓋内圧の増加 | 頭蓋骨縫合閉鎖遅延 | 骨髄細胞形態の異常 | 髄芽腫" ] }, { "id": "NANDO:1200906", "label_en": "Long-segment Hirschsprung's disease", "label_ja": "左右結腸型ヒルシュスプルング病", "yomigana": "さゆうけっちょうがたひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200906", "notificationNumber": "291", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200510", "label_en": "Carnitine palmitoyltransferase II deficiency", "label_ja": "カルニチンパルミトイルトランスフェラーゼII欠損症", "yomigana": "かるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200510", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Abnormal basal ganglia morphology | Abnormal brain morphology | Abnormality of neuronal migration | Agenesis of corpus callosum | Arrhythmia | Cardiomyopathy | Cerebellar vermis hypoplasia | Cerebral calcification | Cold-induced muscle cramps | Coma | Cystic renal dysplasia | Decreased plasma free carnitine | Decreased plasma total carnitine | Elevated circulating creatine kinase activity | Episodic abdominal pain | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced myalgia | Headache | Hepatic calcification | Hepatic failure | Hepatomegaly | Hydrocephalus | Hyperlipidemia | Hypoketotic hypoglycemia | Intermittent painful muscle spasms | Muscle weakness | Myalgia | Myoglobinuria | Myopathy | Neonatal respiratory distress | Pachygyria | Polycystic kidney dysplasia | Polymicrogyria | Reduced tissue carnitine O-palmitoyltransferase 2 activity | Renal tubular epithelial necrosis | Rhabdomyolysis | Seizure | Stage 5 chronic kidney disease | Tubulointerstitial nephritis" ], "symptoms_ja_list": [ "carnitine O-palmitoyltransferase 活性減少 | ステージ5慢性腎疾患 | ニューロン移動の異常 | ミオグロビン尿 | ミオパチー | 不整脈 | 低ケトン性低血糖 | 嚢胞性腎異形成 | 基底核の異常 | 多嚢胞性腎異形成 | 多小脳回 | 大脳石灰化 | 寒冷誘発性筋けいれん (こむらがえり) | 小脳虫部低形成 | 尿細管間質性腎炎 | 心筋症 | 急性尿細管壊死 | 新生児呼吸窮迫 | 昏睡 | 横紋筋融解 | 水頭症 | 発作 | 筋痛 | 筋虚弱 | 肝不全 | 肝石灰化 | 肝腫 | 脳回肥厚 | 脳形態の異常 | 脳梁無発生 of | 腹痛エピソード | 血清 creatine phosphokinase上昇 | 血漿フリーカルニチン減少 | 血漿総カルニチン減少 | 運動不耐症 | 運動誘発性筋けいれん | 運動誘発性筋痛 | 間歇的有痛性筋スパスム | 頭痛 | 高脂血症" ] }, { "id": "NANDO:1200356", "label_en": "Shwachman-Diamond syndrome", "label_ja": "シュワッハマン・ダイアモンド症候群", "yomigana": "しゅわっはまん・だいあもんどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200356", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal finger morphology | Abnormal heart morphology | Abnormal joint morphology | Abnormality of blood and blood-forming tissues | Abnormality of the gastrointestinal tract | Abnormality of the outer ear | Abnormality of the skeletal system | Acute myeloid leukemia | Anemia | Aplastic anemia | Atypical behavior | Autistic behavior | Bone marrow hypocellularity | Carious teeth | Decreased circulating vitamin D concentration | Decreased circulating vitamin E concentration | Decreased circulating vitamin K concentration | Decreased response to growth hormone stimulation test | Decreased total leukocyte count | Decreased total neutrophil count | Deformed rib cage | Delayed eruption of teeth | Delayed skeletal maturation | Diabetes mellitus | Eczematoid dermatitis | Elevated circulating hepatic transaminase concentration | Exocrine pancreatic insufficiency | Failure to thrive | Fat malabsorption | Growth delay | Hearing impairment | Hepatomegaly | Ichthyosis | Immunodeficiency | Increased mean corpuscular volume | Increased serum bile acid concentration | Intellectual disability | Leukemia | Macrocytic anemia | Malnutrition | Metaphyseal chondrodysplasia | Metaphyseal irregularity | Metaphyseal widening | Myelodysplasia | Normocytic anemia | Oral ulcer | Osteomyelitis | Osteopenia | Pancreatic hypoplasia | Pancytopenia | Pneumonia | Proximal femoral epiphysiolysis | Recurrent bacterial infections | Recurrent viral infections | Reduced circulating vitamin A concentration | Sepsis | Short attention span | Short stature | Sinusitis | Skin rash | Steatorrhea | Thrombocytopenia | Vertebral compression fracture" ], "symptoms_ja_list": [ "ビタミンA欠乏症 | ビタミンD欠乏症 | ビタミンE欠乏症 | ビタミンK欠乏症 | 低身長 | 免疫不全 | 再生不良性貧血 | 副鼻腔炎 | 反復性ウイルス感染症 | 反復性細菌感染症 | 口腔潰瘍 | 変形した肋骨胸郭 | 外分泌性膵不全 | 外耳の異常 | 大球性貧血 | 好中球減少症 | 巨大赤血球症 | 心形態の異常 | 急性骨髄性白血病 | 成長ホルモン欠乏症 | 成長遅滞 | 成長障害 (成長不全) | 指の異常 | 敗血症 | 栄養失調 | 正球性貧血 | 歯萠出遅延 | 汎血球減少症 | 湿疹 | 白血球減少症 | 白血病 | 皮膚発疹 | 知的障害 | 短い注意期間 | 糖尿病 | 肝トランスアミナーゼ上昇 | 肝腫 | 肺炎 | 胃腸管の異常 | 脂肪便 | 脂肪吸収不全 | 脊椎圧迫骨折 | 膵低形成 | 自閉性行動 | 血小板減少 | 血液および血液痙性組織の異常 | 血清胆汁酸濃度の増加 | 行動異常 | 貧血 | 近位大腿骨骨端融解 | 関節形態異常 | 難聴 | 骨幹端不規則性 | 骨幹端拡大 | 骨幹端軟骨異形成 | 骨格の異常 | 骨格骨化遅延 | 骨減少症 | 骨髄炎 | 骨髄異形成 | 骨髄細胞数増多 | 魚鱗癬 | 齲歯" ] }, { "id": "NANDO:1200412", "label_en": "Autoimmune Addison's disease", "label_ja": "アジソン病（自己免疫性副腎炎）", "yomigana": "あじそんびょう（じこめんえきせいふくじんえん）", "url": "http://nanbyodata.jp/ontology/NANDO_1200412", "notificationNumber": "83", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200069", "label_en": "Adult GM1 gangliosidosis", "label_ja": "成人型GM1-ガングリオシドーシス", "yomigana": "せいじんがたじーえむ1がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200069", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Anterior beaking of lumbar vertebrae | Ataxia | Autosomal recessive inheritance | Cherry red spot of the macula | Childhood onset | Coarse facial features | Decreased beta-galactosidase activity | Delayed speech and language development | Diffuse cerebral atrophy | Dysarthria | Dystonia | Flared iliac wing | Foam cells | Hepatomegaly | Hyperreflexia | Hypoplastic acetabulae | Kyphosis | Mild intellectual disability | Myoclonus | Opacification of the corneal stroma | Pes cavus | Platyspondyly | Scoliosis | Seizure | Short stature | Skeletal muscle atrophy | Slurred speech | Splenomegaly | Ventriculomegaly" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | びまん性大脳萎縮 | ジストニア | ミオクローヌス | 不明瞭言語 | 低身長 | 側弯 | 凹足 | 反射亢進 | 寛骨臼低形成 | 常染色体潜性遺伝 | 後弯 | 扁平脊椎 | 構音障害 | 泡沫細胞 | 発作 | 発語および言語発達遅延 | 知的障害", "軽度 | 筋萎縮 | 粗な顔貌 | 肝腫 | 脳室拡大 | 脾腫 | 腰椎のくちばし状前方突出 | 腸骨翼フレア | 角膜間質混濁形成 | 運動失調 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:1200512", "label_en": "Dystonia 1", "label_ja": "DYT1ジストニア", "yomigana": "でぃーわいてぃー1じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200512", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal posturing | Abnormality of movement | Abnormality of the musculature | Abnormality of the voice | Absent Achilles reflex | Autosomal dominant inheritance | Babinski sign | Blepharospasm | Cerebellar atrophy | Depression | Dysarthria | Dysphagia | Facial palsy | Gait disturbance | Generalized dystonia | Generalized hypotonia | Hyperlordosis | Hyperreflexia | Hypertonia | Hypotonia | Inability to walk | Kyphosis | Middle age onset | Motor delay | Multiple joint contractures | Neonatal onset | Oromandibular dystonia | Scoliosis | Torsion dystonia | Torticollis | Tremor | Typified by incomplete penetrance | Writer's cramp" ], "symptoms_ja_list": [ "Babinski サイン | うつ | アキレス腱反射欠損 | 側弯 | 全身性ジストニア | 全身性筋緊張低下 | 前弯 | 反射亢進 | 口下顎ジストニア | 嚥下障害 | 声の異常 | 多発性関節拘縮 | 小脳萎縮 | 常染色体顕性遺伝 | 後弯 | 振戦 | 捻転ジストニア | 斜頚 | 書痙 | 構音障害 | 歩行不能 | 歩行障害 | 異常な姿勢 | 眼瞼スパスム | 筋の異常 | 筋緊張亢進 | 筋緊張低下 | 運動の異常 | 運動発達遅滞 | 顔面麻痺" ] }, { "id": "NANDO:2201473", "label_en": "Extrahepatic portal vein obstruction", "label_ja": "肝外門脈閉塞症", "yomigana": "かんがいもんみゃくへいそくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201473", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100269", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201173", "label_en": "Mucopolysaccharidosis type II, severe form", "label_ja": "重症型ムコ多糖症II型", "yomigana": "じゅうしょうがたむこたとうしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201173", "notificationNumber": "130", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200563", "label_en": "Hemimegalencephaly", "label_ja": "片側巨脳症", "yomigana": "へんそくきょのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200563", "notificationNumber": "136", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal neuron morphology | Abnormal skull morphology | Atonic seizure | Cranial asymmetry | Cranial nerve paralysis | EEG with burst suppression | EEG with focal sharp slow waves | EEG with focal spikes | EEG with polyspike wave complexes | Epileptic spasm | Focal motor seizure | Focal tonic seizure | Functional motor deficit | Gliosis | Global developmental delay | Gray matter heterotopia | Hemianopia | Hemihypsarrhythmia | Hemimegalencephaly | Hemiparesis | Macrocephaly | Myoclonus | Oculomotor nerve palsy | Optic atrophy | Pachygyria | Polymicrogyria | Seizure | Severe intellectual disability | Status epilepticus | Ventriculomegaly" ], "symptoms_ja_list": [ "てんかん性スパスム | てんかん重積 | ミオクローヌス | 全般性発達遅滞 | 半盲 | 多小脳回 | 多棘除波複合を伴う脳波 | 大頭 | 機能的筋異常 | 焦点性棘徐波を伴う脳波 | 焦点性棘波を伴う脳波 | 焦点性運動発作 | 焦点性間代性発作 | 片側ヒプスアリスミア | 片側不全麻痺 | 片側巨脳症 | 異常なニューロン形態 | 発作 | 眼球運動神経麻痺 | 知的障害", "重度 | 神経膠症 | 組織異所発生 | 群発‐抑制交代を伴う脳波 | 脱力発作 | 脳回肥厚 | 脳室拡大 | 脳神経麻痺 | 視神経萎縮 | 頭蓋非対称 | 頭蓋骨の異常" ] }, { "id": "NANDO:2200529", "label_en": "Kearns-Sayre syndrome", "label_ja": "カーンズ・セイヤー症候群", "yomigana": "かーんず・せいやーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200529", "notificationNumber": "90", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [ "Anterior hypopituitarism | Arrhythmia | Ataxia | Basal ganglia calcification | Cardiomyopathy | Chronic kidney disease | Cognitive impairment | Delayed puberty | Delayed skeletal maturation | Dementia | Diabetes mellitus | Diminished deep tendon reflex | Dysphagia | EMG abnormality | Exercise intolerance | Hearing impairment | Hemiplegia/hemiparesis | Hypoparathyroidism | Hypotonia | Increased CSF protein concentration | Lactic acidosis | Microcephaly | Mitochondrial inheritance | Muscle weakness | Neck muscle weakness | Pigmentary retinopathy | Primary adrenal insufficiency | Progressive external ophthalmoplegia | Progressive intervertebral space narrowing | Ptosis | Ragged-red muscle fibers | Renal Fanconi syndrome | Renal tubular acidosis | Seizure | Sensorineural hearing impairment | Sensory neuropathy | Short stature | Sideroblastic anemia | Skeletal muscle atrophy | Third degree atrioventricular block | Tremor" ], "symptoms_ja_list": [ "3度房室ブロック | Dementia | Ragged-red 筋線維 | ミトコンドリア遺伝 | 下垂体前葉機能低下症 | 不整脈 | 乳酸性アシドーシス | 低身長 | 副甲状腺機能低下症 | 原発性副腎不全 | 嚥下障害 | 基底核石灰化 | 小頭 | 心筋症 | 思春期遅発 | 感覚ニューロパチー | 感音難聴 | 慢性腎疾患 | 振戦 | 片麻痺/片側不全麻痺 | 発作 | 眼瞼下垂 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 筋電図異常 | 糖尿病 | 腎尿細管アシドーシス | 腎性 Fanconi 症候群 | 腱反射減少 | 色素性網膜症 | 認知障害 | 進行性外眼筋麻痺 | 進行性椎間腔狭窄 | 運動不耐症 | 運動失調 | 鉄芽球性貧血 | 難聴 | 頸部筋虚弱 | 骨格骨化遅延 | 髄液タンパクの増加" ] }, { "id": "NANDO:2200862", "label_en": "Ullrich congenital muscular dystrophy", "label_ja": "ウルリヒ型先天性筋ジストロフィー", "yomigana": "うるりひがたせんてんせいきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200862", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [ "Abnormal muscle fiber morphology | Abnormal palate morphology | Adducted thumb | Decreased fetal movement | Diaphragmatic weakness | EMG: myopathic abnormalities | Elbow flexion contracture | Elevated circulating creatine kinase activity | Esotropia | Flexion contracture | Frequent falls | Generalized amyotrophy | Generalized hypotonia | Generalized muscle weakness | Hip dislocation | Increased endomysial connective tissue | Increased laxity of fingers | Increased variability in muscle fiber diameter | Knee flexion contracture | Kyphosis | Long toe | Micrognathia | Muscle weakness | Pes valgus | Respiratory failure | Scoliosis | Short neck | Slender finger | Spinal rigidity | Torticollis | Wrist hypermobility" ], "symptoms_ja_list": [ "側弯 | 全身性筋緊張低下 | 全身性筋萎縮 | 全身性筋虚弱 | 内斜視 | 内転母指 | 口蓋の異常 | 呼吸不全 | 外反足 | 小顎 | 屈曲拘縮 | 後弯 | 手関節過伸展 | 指関節弛緩性増加 | 斜頚 | 横隔膜虚弱 | 短い頸部 | 筋内膜結合織増加 | 筋線維の異常 | 筋線維直径の多様性増加 | 筋虚弱 | 筋電図: ミオパチー異常 | 細い指 | 肘屈曲拘縮 | 股関節脱臼 | 胎動減少 | 脊椎強直 | 膝屈曲拘縮 | 血清 creatine phosphokinase上昇 | 長い趾 | 頻回の転倒" ] }, { "id": "NANDO:1200230", "label_en": "Pemphigus foliaceus", "label_ja": "落葉状天疱瘡", "yomigana": "らくようじょうてんぽうそう", "url": "http://nanbyodata.jp/ontology/NANDO_1200230", "notificationNumber": "35", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal oral mucosa morphology | Abnormal scalp morphology | Acantholysis | Autoimmunity | Crusting erythematous dermatitis | Erythema | Erythroderma | Hematological neoplasm | Neoplasm of the skin | Oral ulcer | Pruritus | Psoriasiform dermatitis | Pustule | Skin erosion | Skin vesicle" ], "symptoms_ja_list": [ "乾癬 | 口腔潰瘍 | 口腔粘膜異常 | 掻痒 | 有棘細胞解離 | 異常な皮膚水泡 | 痂皮性紅斑性皮膚炎 | 皮膚びらん | 皮膚小水疱 | 皮膚新生物 | 紅斑 | 紅皮症 | 膿疱 | 自己免疫 | 血液学的新生物 | 頭皮の異常" ] }, { "id": "NANDO:1200808", "label_en": "NAGS deficiency", "label_ja": "NAGS欠損症", "yomigana": "えぬえーじーえす欠損症", "url": "http://nanbyodata.jp/ontology/NANDO_1200808", "notificationNumber": "251", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Acute hyperammonemia | Aggressive behavior | Agitation | Alkalosis | Anorexia | Anxiety | Ataxia | Atypical behavior | Autosomal recessive inheritance | Cerebral ischemia | Cognitive impairment | Coma | Confusion | Diarrhea | Drowsiness | Echolalia | Emotional lability | Encephalopathy | Failure to thrive | Fatigue | Feeding difficulties | Floppy infant | Global developmental delay | Headache | Hepatomegaly | Hyperalaninemia | Hyperammonemia | Hyperglutaminemia | Hypertonia | Hypothermia | Insomnia | Lethargy | Loss of consciousness | Low plasma citrulline | Microcephaly | Motor stereotypy | Myelodysplasia | Nausea | Neonatal onset | Paraplegia | Polyneuropathy | Poor appetite | Poor speech | Psychotic episodes | Respiratory distress | Reye syndrome-like episodes | Seizure | Stroke | Tachypnea | Vomiting" ], "symptoms_ja_list": [ "Reye 症様エピソード | アルカローシス | ポリニューロパチー | 下痢 | 不全麻痺 | 不安 | 不眠 | 不穏 | 乳児筋性筋緊張低下 | 低体温 | 全般性発達遅滞 | 卒中 | 反響言語 | 吐気 | 呼吸窮迫 | 嘔吐 | 多呼吸 | 大脳虚血 | 小頭 | 常同行動 | 常染色体潜性遺伝 | 急性高アンモニア血症 | 情動不安定 | 意識喪失 | 成長障害 (成長不全) | 攻撃的行動 | 昏睡 | 無気力 | 疲労 | 発作 | 発語不全 | 眠気 | 筋緊張亢進 | 精神病エピソード | 肝腫 | 脳症 | 血症シトルリン低値 | 行動異常 | 認知障害 | 運動失調 | 錯乱 | 頭痛 | 食思不振 | 食餌摂取障害 | 骨髄異形成 | 高アラニン血症 | 高アンモニア血症 | 高グルタミン血症" ] }, { "id": "NANDO:2200328", "label_en": "Basedow disease", "label_ja": "バセドウ病", "yomigana": "ばせどうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200328", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100119", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100244", "label_en": "Aicardi-Goutières Syndrome", "label_ja": "エカルディ・グティエール症候群", "yomigana": "えかるでぃ・ぐてぃえーるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100244", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100215", "label_en": "Myelomeningocele", "label_ja": "脊髄髄膜瘤", "yomigana": "せきずいずいまくりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2100215", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200435", "label_en": "X-linked recessive retinitis pigmentosa", "label_ja": "網膜色素変性症（X染色体劣性遺伝型）", "yomigana": "もうまくしきそへんせいしょう（えっくすせんしょくたいれっせいいでんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200435", "notificationNumber": "90", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200711", "label_en": "Ebstein's anomaly", "label_ja": "エプスタイン病", "yomigana": "えぷすたいんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200711", "notificationNumber": "217", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal endocardium morphology | Arrhythmia | Arterial thrombosis | Atrial fibrillation | Atrial septal defect | Autosomal recessive inheritance | Cerebral ischemia | Chest pain | Complete right bundle branch block | Congestive heart failure | Cyanosis | Dyspnea | Ebstein anomaly of the tricuspid valve | Fatigue | Hypoxemia | Imperforate tricuspid valve | Myocardial infarction | Palpitations | Patent ductus arteriosus | Pedal edema | Premature birth | Respiratory insufficiency | Stroke | Sudden cardiac death | Tricuspid regurgitation | Ventricular preexcitation" ], "symptoms_ja_list": [ "うっ血性心不全 | チアノーゼ | 三尖弁のEbstein 奇形 | 三尖弁逆流 | 三尖弁閉鎖 | 不整脈 | 低酸素血症への感受性の減少 | 共通 | 動悸 | 動脈管開存症 | 動脈血栓症 | 卒中 | 右脚ブロック | 呼吸不全 | 呼吸困難 | 大脳虚血 | 常染色体潜性遺伝 | 循環器系の形態異常 | 心中隔 | 心内膜の異常 | 心室早期興奮 | 心房中隔欠損 | 心房細動 | 心筋梗塞 | 早産 | 浮腫 (下肢) | 疲労 | 突然心臓死" ] }, { "id": "NANDO:1200965", "label_en": "Vascular sling", "label_ja": "左肺動脈右肺動脈起始症", "yomigana": "ひだりはいどうみゃくみぎはいどうみゃくきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200965", "notificationNumber": "314", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200875", "label_en": "Reducing body myopathy", "label_ja": "還元小体ミオパチー", "yomigana": "かんげんしょうたいみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_2200875", "notificationNumber": "56", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100234", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201019", "label_en": "Larsen syndrome", "label_ja": "ラーセン症候群", "yomigana": "らーせんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201019", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal epiphysis morphology | Abnormality of the cardiovascular system | Abnormality of the cervical spine | Accessory carpal bones | Aortic aneurysm | Atrial septal defect | Autosomal dominant inheritance | Beaking of vertebral bodies | Bipartite calcaneus | Brachydactyly | Broad distal phalanx of finger | Broad thumb | Bronchomalacia | Cervical kyphosis | Cleft palate | Cleft upper lip | Conductive hearing impairment | Corneal opacity | Craniosynostosis | Cryptorchidism | Depressed nasal bridge | Dislocated wrist | Elbow dislocation | Finger syndactyly | Flat face | Frontal bossing | Hearing impairment | Hip dislocation | Hypertelorism | Hypodontia | Hypoplastic cervical vertebrae | Intellectual disability | Intrauterine growth retardation | Joint hypermobility | Knee dislocation | Large joint dislocations | Laryngotracheomalacia | Malar flattening | Midface retrusion | Multiple carpal ossification centers | Pectus carinatum | Pectus excavatum | Prominent forehead | Respiratory insufficiency | Scoliosis | Shallow orbits | Short distal phalanx of finger | Short metacarpal | Short metatarsal | Short nail | Short stature | Spatulate thumbs | Spina bifida occulta | Spinal cord compression | Spondylolysis | Talipes equinovalgus | Talipes equinovarus | Tapered humerus | Tracheal stenosis | Tracheomalacia | Ventricular septal defect | Vertebral fusion | Vertebral segmentation defect" ], "symptoms_ja_list": [ "くちばし状椎体骨 | はと胸 | へら状母指 | 上口唇裂 | 両眼隔離 | 二分した踵骨 | 伝音難聴 | 低身長 | 停留精巣 | 側弯 | 先細りの上腕骨 | 内反尖足 | 前頭突出", "額突出 | 副手根骨 | 口蓋裂 | 合指症 | 呼吸不全 | 喉頭気管軟化症 | 外反尖足 | 多発性手根骨骨化中心 | 大動脈瘤 | 大関の脱臼 | 子宮内成長遅滞 | 常染色体顕性遺伝 | 幅広い指末節骨 | 幅広い母指 | 平坦な頬 | 平坦な顔 | 心室中隔欠損 | 心房中隔欠損 | 心血管系 | 手関節脱臼 | 気管支軟化症 | 気管狭窄 | 気管軟化症 | 浅い眼窩 | 減歯症 | 漏斗胸 | 潜在性二分脊椎 | 目立つ額 | 知的障害 | 短い中手骨 | 短い中足骨 | 短い指末節骨 | 短い爪 | 短指症候群 | 肘脱臼 | 股関節脱臼 | 脊椎分節異常 | 脊椎分離症 | 脊椎骨癒合 | 脊髄圧迫 | 膝関節脱臼 | 落ちくぼんだ鼻梁 | 角膜混濁 | 関節過動 | 難聴 | 頚椎の異常 | 頚椎低形成 | 頚椎後弯 | 頭蓋合骨症 | 顔面中部後退 | 骨端の異常" ] }, { "id": "NANDO:1200703", "label_en": "obsolete Complete transposition of the great arteries (Group4)", "label_ja": "obsolete 完全大血管転位症IV型", "yomigana": "かんぜんだいけっかんてんいしょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200703", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200762", "label_en": "Infantile Refsum disease", "label_ja": "乳児レフサム病", "yomigana": "にゅうじれふさむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200762", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100298", "label_en": "Autosomal dominant tubulointerstitial kidney disease", "label_ja": "常染色体優性尿細管間質性腎疾患", "yomigana": "じょうせんしょくたいゆうせいにょうさいかんかんしつせいじんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100298", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200097", "label_en": "Hunter syndrome", "label_ja": "Hunter症候群", "yomigana": "はんたーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200097", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal aortic morphology | Abnormal epiphyseal ossification | Abnormal heart morphology | Abnormal heart valve morphology | Abnormal mitral valve morphology | Abnormal pulmonary valve morphology | Abnormal retinal pigmentation | Abnormal tricuspid valve morphology | Aggressive behavior | Airway obstruction | Arrhythmia | Asthma | Atypical behavior | Cardiomyopathy | Cervical cord compression | Childhood onset | Chronic diarrhea | Coarse facial features | Cognitive impairment | Communicating hydrocephalus | Conductive hearing impairment | Congestive heart failure | Constrictive median neuropathy | Contractures of the large joints | Corneal opacity | Decreased nerve conduction velocity | Delayed eruption of teeth | Dermatan sulfate excretion in urine | Developmental regression | Diarrhea | Dolichocephaly | Dysostosis multiplex | Flexion contracture | Full cheeks | Gingival overgrowth | Global developmental delay | Growth delay | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hepatosplenomegaly | Hip dysplasia | Hip osteoarthritis | Hoarse voice | Hydrocephalus | Hyperactivity | Hypertension | Hypertrichosis | Impulsivity | Infantile onset | Inguinal hernia | Intestinal pseudo-obstruction | Irregularity of vertebral bodies | Juvenile onset | Kyphosis | Large central visual field defect | Limitation of joint mobility | Macrocephaly | Macroglossia | Mental deterioration | Mild short stature | Muscle stiffness | Neurodegeneration | Obstructive sleep apnea | Optic atrophy | Otosclerosis | Papilledema | Peripheral visual field loss | Pes cavus | Profound intellectual disability | Progressive neurologic deterioration | Prominent supraorbital ridges | Ptosis | Recurrent otitis media | Recurrent pneumonia | Recurrent upper respiratory tract infections | Retinal degeneration | Retinopathy | Seizure | Sensorineural hearing impairment | Severe short stature | Short neck | Short stature | Sleep apnea | Sleep disturbance | Sleep-wake cycle disturbance | Spinal cord compression | Splenomegaly | Split hand | Temporomandibular joint ankylosis | Thick lower lip vermilion | Thick vermilion border | Tracheobronchomalacia | Umbilical hernia | Upper airway obstruction | Urinary glycosaminoglycan excretion | Wide nasal bridge | Wide nose | Widely spaced teeth | X-linked recessive inheritance | Young adult onset" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うっ血性心不全 | 三尖弁の異常 | 上気道閉塞 | 下痢 | 不整脈 | 不規則な椎体骨 | 乳頭浮腫 | 交通性水頭症 | 伝音難聴 | 低身長 | 側頭骨下顎関節強直 | 僧帽弁の異常 | 全般性発達遅滞 | 凹足 | 分厚い下口唇唇紅部 | 分厚い唇紅部縁 | 反復性上気道感染症 | 反復性中耳炎 | 反復性肺炎 | 収縮性正中神経ニューロパチー | 喘息 | 嗄声 | 多動 | 多毛症 | 多発性異骨症 | 大きな中心視野障害 | 大きな頬 | 大動脈の異常 | 大関節拘縮 | 大頭 | 尿中グリコサミノグリカン排泄 | 尿中硫酸デルマタン排泄 | 尿中硫酸ヘパラン排泄 | 屈曲拘縮 | 巨舌 | 幅広い鼻 | 幅広い鼻梁 | 後弯 | 心弁の異常 | 心形態の異常 | 心筋症 | 感音難聴 | 慢性下痢 | 成長遅滞 | 攻撃的行動 | 末梢視野喪失 | 歯肉過成長 | 歯萠出遅延 | 歯間隔離 | 気管気管支軟化症 | 水頭症 | 発作 | 発達退行 | 目立つ眼窩上縁 | 眼瞼下垂 | 睡眠-覚醒周期障害 | 睡眠時無呼吸 | 睡眠障害 | 知的障害", "最重度 | 知能悪化 | 短い頸部 | 神経変性 | 神経活動電位の振幅減少 | 筋硬直 | 粗な顔貌 | 網膜変性 | 網膜症 | 網膜色素異常 | 耳硬化症 | 肝脾腫 | 肝腫 | 股関節異形成 | 股関節骨関節炎 | 肺動脈弁の異常 | 脊髄圧迫 | 脾腫 | 腸偽閉塞 | 臍ヘルニア | 行動異常 | 衝動性 | 裂手 | 視神経萎縮 | 角膜混濁 | 認知障害 | 軽度の低身長 | 進行性神経学的悪化 | 重度の低身長 | 長頭 | 閉塞性睡眠時無呼吸 | 閉塞性肺疾患 | 関節運動制限 | 難聴 | 頚髄圧迫 | 骨端骨化異常 | 高血圧 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200657", "label_en": "Thrombasthenia", "label_ja": "血小板無力症", "yomigana": "けっしょうばんむりょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200657", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200918", "label_en": "Cowden syndrome", "label_ja": "カウデン症候群", "yomigana": "かうでんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200918", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100257", "symptoms_en_list": [ "Abnormal cerebellum morphology | Abnormal penis morphology | Abnormality of the kidney | Abnormality of the thyroid gland | Abnormality of the uterus | Adenoma sebaceum | Ataxia | Autism | Bone cyst | Brachydactyly | Breast carcinoma | Cataract | Cavernous hemangioma | Cellular immunodeficiency | Cognitive impairment | Colorectal polyposis | Conjunctival hamartoma | Endometrial carcinoma | Enlarged polycystic ovaries | Failure to thrive | Fibroma | Follicular thyroid carcinoma | Furrowed tongue | Generalized hyperkeratosis | Global developmental delay | Goiter | Gynecomastia | Hamartomatous polyposis | Hearing impairment | High palate | Hypopigmented skin patches | Increased intracranial pressure | Intellectual disability | Kyphosis | Lipoma | Macrocephaly | Macroglossia | Macule | Melanocytic nevus | Melanoma | Meningioma | Mucosal telangiectasiae | Multiple cafe-au-lait spots | Myopia | Neoplasm | Neoplasm of the central nervous system | Neoplasm of the skin | Neoplasm of the thyroid gland | Palmoplantar keratoderma | Papilloma | Papule | Pectus excavatum | Renal cell carcinoma | Scoliosis | Seizure | Short stature | Subcutaneous nodule" ], "symptoms_ja_list": [ "メラニン細胞母斑 | 丘疹 | 中枢神経新生物 | 乳房癌 | 乳頭腫 | 低色素性皮膚斑 | 低身長 | 側弯 | 全般性発達遅滞 | 全身性過角化症 | 多嚢胞性卵巣拡大 | 多発性カフェオーレ斑 | 大頭 | 女性型乳房 | 子宮内膜癌 | 子宮異常 | 小脳の異常 | 巨舌 | 後弯 | 成長障害 (成長不全) | 掌蹠角皮症 | 斑 | 新生物 | 海綿状血管腫 | 溝舌 | 漏斗胸 | 濾胞性甲状腺癌 | 甲状腺新生物 | 甲状腺異常 | 甲状腺腫 | 発作 | 白内障 | 皮下結節 | 皮脂腺腺腫 | 皮膚新生物 | 知的障害 | 短指症候群 | 粘膜の毛細血管拡張 | 細胞免疫不全 | 結腸直腸ポリープ | 結膜過誤腫 | 線維腫 | 脂肪腫 | 腎異常 | 腎細胞癌 | 自閉症 | 認知障害 | 近視 | 運動失調 | 過誤腫ポリープ | 陰茎異常 | 難聴 | 頭蓋内圧の増加 | 骨嚢胞 | 髄膜腫 | 高口蓋 | 黒色腫" ] }, { "id": "NANDO:1200068", "label_en": "Juvenile GM1 gangliosidosis", "label_ja": "若年型GM1-ガングリオシドーシス", "yomigana": "じゃくねんがたじーえむ1がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200068", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Ataxia | Autosomal recessive inheritance | Beaking of vertebral bodies | Cerebral atrophy | Childhood onset | Coarse facial features | Coxa valga | Decreased beta-galactosidase activity | Developmental stagnation | Dysostosis multiplex | Dysphagia | Failure to thrive | Flat face | Gait disturbance | Generalized hypotonia | Generalized myoclonic seizure | Gingival overgrowth | Hepatomegaly | Hypoplastic vertebral bodies | Joint stiffness | Limb undergrowth | Narrow mouth | Optic atrophy | Patent ductus arteriosus | Platyspondyly | Premature birth | Progressive psychomotor deterioration | Protruding tongue | Scoliosis | Sea-blue histiocytosis | Spastic tetraplegia | Splenomegaly | Thin bony cortex | Thoracolumbar kyphosis | Ventriculomegaly" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | くちばし状椎体骨 | 側弯 | 全身性ミオクローヌス発作 | 全身性筋緊張低下 | 動脈管開存症 | 嚥下障害 | 四肢成長不全 | 外反股 | 多発性異骨症 | 大脳萎縮 | 常染色体潜性遺伝 | 平坦な顔 | 成長障害 (成長不全) | 扁平脊椎 | 早産 | 椎体骨低形成 | 歩行障害 | 歯肉過成長 | 海青組織球症 | 狭い口 | 痙性四肢麻痺 | 発達停滞 | 粗な顔貌 | 肝腫 | 胸腰椎後弯 | 脳室拡大 | 脾腫 | 舌挺出 | 薄い骨皮質 | 視神経萎縮 | 進行性精神運動発達悪化 | 運動失調 | 関節拘縮" ] }, { "id": "NANDO:1200090", "label_en": "Type 4 Farber disease", "label_ja": "新生児型ファーバー病", "yomigana": "しんせいじがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200090", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200075", "label_en": "Infantile Krabbe disease", "label_ja": "乳児型クラッベ病", "yomigana": "にゅうじがたくらっべびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200075", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal periventricular white matter morphology | Abnormality of visual evoked potentials | Ankle clonus | Axial hypotonia | Blindness | Cachexia | Cherry red spot of the macula | Decorticate rigidity | Decreased nerve conduction velocity | Delayed brainstem auditory evoked response conduction time | Diffuse cerebral atrophy | Elevated brain choline level by MRS | Encephalopathy | Failure to thrive | Feeding difficulties | Functional motor deficit | Gastroesophageal reflux | Generalized myoclonic seizure | Global developmental delay | Hand clenching | Hearing impairment | Hydrocephalus | Hyperesthesia | Hyperreflexia | Hypointensity of cerebral white matter on MRI | Hypopigmented skin patches | Hyporeflexia | Increased CSF protein concentration | Increased intracranial pressure | Irritability | Laryngomalacia | Lower limb spasticity | Mental deterioration | Muscle spasm | Muscle stiffness | Muscle weakness | Myoclonus | Nasogastric tube feeding in infancy | Neck muscle weakness | Opisthotonus | Optic atrophy | Peripheral neuropathy | Photophobia | Poor head control | Progressive neurologic deterioration | Psychomotor deterioration | Recurrent infections | Reduced brain N-acetyl aspartate level by MRS | Respiratory distress | Respiratory failure | Seizure | Sensorimotor neuropathy | Shoulder girdle muscle weakness | Spastic diplegia | Spasticity | Temperature instability | Unexplained fevers | Visual loss | Vomiting | Weight loss" ], "symptoms_ja_list": [ "MRIの大脳白質低輝度 | MRSによる脳 N-acetyl aspartate 値現象 | MRSによる脳コリン値上昇 | びまん性大脳萎縮 | ミオクローヌス | 下肢痙性 | 不明熱 | 乳児期の鼻腔栄養 | 低色素性皮膚斑 | 体幹の筋緊張低下 | 体温不安定 | 体重喪失 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 反射亢進 | 反射低下 | 反復性感染症 | 呼吸不全 | 呼吸窮迫 | 喉頭軟化症 | 嘔吐 | 後弓反張 | 悪液質 (カヘキシー) | 感覚運動ニューロパチー | 成長障害 (成長不全) | 握り手 | 末梢神経ニューロパチー | 機能的筋異常 | 水頭症 | 痙性 | 痙性両麻痺 | 発作 | 盲 | 知能悪化 | 知覚過敏 | 神経活動電位の振幅減少 | 筋けいれん | 筋硬直 | 筋虚弱 | 精神運動発達悪化 | 羞明 | 肩帯筋虚弱 | 胃食道逆流 | 脳室周囲白質の異常 | 脳症 | 被刺激性 | 視力喪失 | 視神経萎縮 | 視覚誘発電位の異常 | 足クローヌス | 進行性神経学的悪化 | 遷延性脳幹聴性誘発反応 | 除皮質性硬直 | 難聴 | 頭蓋内圧の増加 | 頸定不全 | 頸部筋虚弱 | 食餌摂取障害 | 髄液タンパクの増加 | 高度/補酵素活性異常 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2201419", "label_en": "Pitt-Hopkins syndrome", "label_ja": "ピット・ホプキンス症候群", "yomigana": "ぴっと・ほぷきんすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201419", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal helix morphology | Abnormal palate morphology | Abnormal pattern of respiration | Absent speech | Acrocyanosis | Aganglionic megacolon | Aggressive behavior | Anteverted nares | Aphasia | Aplasia/Hypoplasia of the corpus callosum | Astigmatism | Ataxia | Autistic behavior | Autosomal dominant inheritance | Broad fingertip | Childhood onset | Clubbing | Coarse facial features | Constipation | Cryptorchidism | Cupped ear | Deep philtrum | Deeply set eye | Echolalia | Esophagitis | Failure of eruption of permanent teeth | Failure to thrive | Feeding difficulties | Flared nostrils | Frontal upsweep of hair | Full cheeks | Gait ataxia | Gastroesophageal reflux | Global developmental delay | Growth delay | Hiatus hernia | Hodgkin lymphoma | Hyperconvex nail | Hyperventilation | Hypopigmented skin patches | Hypoplasia of the corpus callosum | Hypotonia | Incoordination | Intellectual disability | Intermittent hyperventilation | Juvenile onset | Microcephaly | Micropenis | Moderate intellectual disability | Motor delay | Motor stereotypy | Mutism | Myopia | Narrow foot | Narrow forehead | Open mouth | Overhanging nasal tip | Overlapping toe | Pes planus | Pes valgus | Postnatal growth retardation | Prominent fingertip pads | Prominent nasal bridge | Sacral dimple | Scoliosis | Secondary microcephaly | Seizure | Self-injurious behavior | Severe intellectual disability | Short fifth metatarsal | Short fourth metatarsal | Short metatarsal | Short neck | Short palm | Short philtrum | Single transverse palmar crease | Sleep apnea | Sleep disturbance | Small cerebral cortex | Small hand | Specific learning disability | Strabismus | Supernumerary nipple | Tapered finger | Thick vermilion border | Thickened helices | Tooth malposition | Triangular nasal tip | Upslanted palpebral fissure | Ventriculomegaly | Wide mouth | Wide nasal bridge | Widely spaced teeth" ], "symptoms_ja_list": [ "Hodgkin リンパ腫 | ばち状化 | コップ状耳 | 三角形の鼻尖 | 上向きの鼻孔 | 乱視 | 仙骨部陥凹 | 低色素性皮膚斑 | 便秘 | 停留精巣 | 側弯 | 先細りの指 | 全般性発達遅滞 | 凸爪 | 分厚い唇紅部縁 | 分厚い耳輪 | 前頭部のなで上げた毛髪 | 副甲状腺乳頭 | 協調運動障害 | 反響言語 | 口蓋の異常 | 呼吸パターンの異常 | 垂れ下がった鼻尖 | 外反足 | 外耳輪の異常 | 多換気 | 大きな頬 | 失語症 | 小さい大脳皮質 | 小さい手 | 小陰茎 | 小頭 | 常同行動 | 常染色体顕性遺伝 | 幅広い口 | 幅広い指尖 | 幅広い鼻梁 | 成長遅滞 | 成長障害 (成長不全) | 扁平足 | 手掌横線 | 攻撃的行動 | 斜視 | 歩行失調 | 歯不正配列 | 歯間隔離 | 永久歯萠出不全 | 深い人中 | 無神経節性巨大結腸 | 無言症 | 特異的学習障害 | 狭い足 | 狭い額 | 生後の小頭 | 生後の成長遅滞 | 発作 | 発語欠損 | 目立つ指尖パッド | 目立つ鼻梁 | 眼瞼裂斜上 | 睡眠時無呼吸 | 睡眠障害 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "重度 | 短い中足骨 | 短い人中 | 短い手掌 | 短い第4中足骨 | 短い第5中足骨 | 短い頸部 | 筋緊張低下 | 粗な顔貌 | 肢端チアノーゼ | 胃食道逆流 | 脳室拡大 | 脳梁低形成 | 脳梁無形成/低形成 | 自傷行動 | 自閉性行動 | 落ちくぼんだ眼 | 裂孔ヘルニア | 趾の重なり | 近視 | 運動失調 | 運動発達遅滞 | 開口 | 間歇的過換気 | 食道炎 | 食餌摂取障害 | 鼻孔フレア" ] }, { "id": "NANDO:2200748", "label_en": "Autoimmune neutropenia", "label_ja": "自己免疫性好中球減少症", "yomigana": "じこめんえきせいこうちゅうきゅうげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200748", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200315", "label_en": "Acromegaly", "label_ja": "先端巨大症", "yomigana": "せんたんきょだいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200315", "notificationNumber": "55", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100112", "symptoms_en_list": [ "Abnormality of the dentition | Abnormality of the endocrine system | Acanthosis nigricans | Acne | Adrenal insufficiency | Anterior hypopituitarism | Anxiety | Arrhythmia | Arthralgia | Broad foot | Broad forehead | Broad jaw | Cholelithiasis | Coarse facial features | Constrictive median neuropathy | Cortical diaphyseal thickening of the upper limbs | Cranial nerve paralysis | Cutis gyrata of scalp | Decreased circulating HDL-C concentration | Deep palmar crease | Deep plantar creases | Dental malocclusion | Depression | Diabetes mellitus | Dysmenorrhea | Dysuria | Elevated circulating growth hormone concentration | Excessive daytime somnolence | Facial shape deformation | Fatigue | Frontal bossing | Full cheeks | Galactorrhea | Generalized hirsutism | Generalized hyperpigmentation | Headache | Hoarse voice | Hydrocephalus | Hyperhidrosis | Hypertension | Hypertrichosis | Hypertriglyceridemia | Hypertrophic cardiomyopathy | Hypogonadotropic hypogonadism | Impotence | Increased circulating prolactin concentration | Infertility | Insulin resistance | Intestinal polyp | Joint swelling | Kyphosis | Large hands | Long face | Macrodactyly | Macroglossia | Macrotia | Mandibular prognathia | Migraine | Mitral regurgitation | Multinodular goiter | Myalgia | Oligomenorrhea | Ophthalmoplegia | Osteoarthritis | Palpebral edema | Paresthesia | Pituitary growth hormone cell adenoma | Pituitary hypothyroidism | Pituitary prolactin cell adenoma | Prominent supraorbital ridges | Restless legs | Seborrheic dermatitis | Secondary amenorrhea | Skin tags | Sleep apnea | Spinal canal stenosis | Synophrys | Tapered finger | Thick vermilion border | Thickened skin | Type II diabetes mellitus | Vertebral compression fracture | Visual field defect | Wide nose | Widely spaced teeth" ], "symptoms_ja_list": [ "?瘡 | II 型糖尿病 | うつ | むずむず下肢 | インスリン抵抗性 | インポテンス | プロラクチン過剰症 | 上肢の皮質骨端肥厚 | 下垂体プロラクチン細胞腺腫 | 下垂体前葉機能低下症 | 下垂体成長ホルモン細胞腺腫 | 下垂体甲状腺機能低下症 | 下顎突出 | 不妊 | 不安 | 不整脈 | 不正咬合 | 乳汁漏出 | 二次性無月経 | 低ゴナドトロピン性性腺機能低下症 | 偏頭痛 | 僧帽弁逆流 | 先細りの指 | 全身性多毛 | 全身性高色素 | 内分泌系異常 | 分厚い唇紅部縁 | 分厚い皮膚 | 前頭突出", "額突出 | 副腎不全 | 収縮性正中神経ニューロパチー | 嗄声 | 嗜眠 | 多毛症 | 多汗 | 多結節性甲状腺腫 | 大きな手 | 大きな頬 | 大耳 | 巨指趾 | 巨舌 | 希発月経 | 幅広い下顎 | 幅広い足 | 幅広い額 | 幅広い鼻 | 後弯 | 感覚異常 | 成長ホルモン過剰症 | 排尿障害 | 月経困難 | 歯の異常 | 歯間隔離 | 水頭症 | 深い手掌屈曲線 | 深い足底屈曲線 | 疲労 | 皮膚肉柱 | 目立つ眼窩上縁 | 眼瞼浮腫 | 眼筋麻痺 | 睡眠時無呼吸 | 筋痛 | 粗な顔貌 | 糖尿病 | 肥大型心筋症 | 胆石症 | 脂漏性皮膚炎 | 脊椎圧迫骨折 | 脊椎管狭窄 | 脳回状頭皮 | 脳神経麻痺 | 腸ポリープ | 視野障害 | 連続眉毛 | 長い顔 | 関節痛 | 関節腫脹 | 頭痛 | 顔面変形 | 骨関節炎 | 高αリポ蛋白血症 | 高トリグリセリド血症 | 高血圧 | 黒色表皮腫" ] }, { "id": "NANDO:1200480", "label_en": "Minicore myopathy", "label_ja": "ミニコア病", "yomigana": "みにこあびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200480", "notificationNumber": "111", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal muscle fiber morphology | Arthrogryposis multiplex congenita | Distal muscle weakness | EMG abnormality | External ophthalmoplegia | Failure to thrive | Generalized hypotonia | Joint hypermobility | Joint stiffness | Malignant hyperthermia | Minicore myopathy | Muscular dystrophy | Myopathy | Proximal lower limb muscle weakness | Proximal upper limb muscle weakness | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Scoliosis | Short stature | Spinal rigidity | Strabismus" ], "symptoms_ja_list": [ "ミオパチー | ミニコア (マルチコア) ミオパチー | 上肢の近位筋虚弱 | 下肢の近位筋虚弱 | 低身長 | 側弯 | 先天性多発性関節拘縮 | 全身性筋緊張低下 | 呼吸不全 | 外眼筋麻痺 | 悪性高体温症 | 成長障害 (成長不全) | 斜視 | 筋ジストロフィー | 筋線維の異常 | 筋虚弱による呼吸不全 | 筋電図異常 | 脊椎強直 | 遠位筋虚弱 | 関節拘縮 | 関節過動" ] }, { "id": "NANDO:1200531", "label_en": "Dystonia 18", "label_ja": "DYT18ジストニア", "yomigana": "でぃーわいてぃー18じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200531", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Aggressive behavior | Ataxia | Autosomal dominant inheritance | Cerebral atrophy | Chorea | Choreoathetosis | Dyskinesia | Dystonia | EEG abnormality | Generalized non-motor (absence) seizure | Global developmental delay | Hemolytic anemia | Hyperactive deep tendon reflexes | Hypoglycorrhachia | Increased CSF lactate | Infantile onset | Intellectual disability | Involuntary movements | Irritability | Juvenile onset | Lower limb spasticity | Migraine | Mild intellectual disability | Paresthesia | Paroxysmal dyskinesia | Reticulocytosis | Seizure | Specific learning disability | Splenomegaly | Torsion dystonia | Tremor | Typified by incomplete penetrance" ], "symptoms_ja_list": [ "ジスキネジア | ジストニア | 下肢痙性 | 不随意運動 | 偏頭痛 | 全般性発達遅滞 | 大脳萎縮 | 常染色体顕性遺伝 | 感覚異常 | 振戦 | 捻転ジストニア | 攻撃的行動 | 欠神発作 | 深部腱反射亢進 | 溶血性貧血 | 特異的学習障害 | 発作 | 発作性ジスキネジア | 知的障害 | 知的障害", "軽度 | 網状赤血球増多症 | 脳波異常 | 脾腫 | 舞踏病 | 舞踏病アテトーゼ | 被刺激性 | 運動失調 | 髄液乳酸増加 | 髄液糖減少症" ] }, { "id": "NANDO:2100137", "label_en": "Hyperandrogenism (excluding precocious puberty)", "label_ja": "アンドロゲン過剰症", "yomigana": "あんどろげんかじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100137", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200178", "label_en": "obsolete Leber disease", "label_ja": "obsolete レーバー病", "yomigana": "れーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200178", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200688", "label_en": "Congenital plasminogen activator inhibitor-1 deficiency", "label_ja": "先天性プラスミノゲンアクチベータインヒビター1欠乏症", "yomigana": "せんてんせいぷらすみのげんあくちべーたいんひびたー1けつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200688", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Abnormal bleeding | Autosomal dominant inheritance | Autosomal recessive inheritance | Congenital onset | Epidural hemorrhage | Epistaxis | Gastrointestinal hemorrhage | Hemoperitoneum | Intracranial hemorrhage | Intramuscular hematoma | Joint hemorrhage | Menorrhagia | Miscarriage | Myocardial fibrosis | Persistent bleeding after trauma | Poor wound healing | Post-partum hemorrhage | Premature birth | Prolonged bleeding after dental extraction | Prolonged bleeding after surgery | Spontaneous hematomas | Subcutaneous hemorrhage" ], "symptoms_ja_list": [ "傷治癒不全 | 外傷後の持続性出血 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 心筋線維症 | 抜歯後の遷延性出血 | 早産 | 月経痛 | 産後出血 | 異常な出血 | 皮下出血 | 硬膜外出血 | 筋内血腫 | 胃腸出血 | 腹腔内出血 | 自然流産 | 自然血管腫 | 術後の遷延性出血 | 関節出血 | 頭蓋内出血 | 鼻出血" ] }, { "id": "NANDO:2200513", "label_en": "Medium-chain acyl-CoA dehydrogenase deficiency", "label_ja": "中鎖アシルCoA脱水素酵素欠損症", "yomigana": "ちゅうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200513", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Arrhythmia | Ataxia | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Cachexia | Cardiomegaly | Cerebral edema | Coma | Decreased circulating carnitine concentration | Decreased liver function | Decreased plasma total carnitine | Delayed speech and language development | Diarrhea | Dicarboxylic aciduria | Diminished deep tendon reflex | Distal arthrogryposis | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Exercise-induced myalgia | Exertional dyspnea | Fatigable weakness | Fatigue | Febrile seizure (within the age range of 3 months to 6 years) | Generalized hypotonia | Global developmental delay | Hepatic steatosis | Hepatomegaly | Hyperammonemia | Hyperglycinuria | Hypoglycemia | Hypotonia | Ketosis | Lethargy | Loss of consciousness | Macrocephaly | Medium chain dicarboxylic aciduria | Metabolic acidosis | Muscle spasm | Myopathy | Proximal muscle weakness | Seizure | Skeletal muscle atrophy | Vomiting" ], "symptoms_ja_list": [ "ケトン症 | ジカルボン酸尿 | ミオパチー | 下痢 | 不整脈 | 中鎖ジカルボン酸尿 | 代謝性アシドーシス | 低血糖 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性間代性強直性発作 | 嘔吐 | 大脳浮腫 | 大頭 | 常染色体潜性遺伝 | 心拡大 | 悪液質 (カヘキシー) | 意識喪失 | 昏睡 | 無気力 | 熱性けいれん | 疲労 | 疲労性虚弱 | 発作 | 発語および言語発達遅延 | 筋けいれん | 筋緊張低下 | 筋萎縮 | 肝トランスアミナーゼ上昇 | 肝機能低下 | 肝腫 | 脂肪肝 | 腱反射減少 | 血清 creatine phosphokinase上昇 | 血漿カルニチン減少 | 血漿総カルニチン減少 | 近位筋虚弱 | 運動失調 | 運動性呼吸困難 | 運動誘発性筋痛 | 遠位関節拘縮 | 高アンモニア血症 | 高グリシン尿" ] }, { "id": "NANDO:2201403", "label_en": "Early myoclonic encephalopathy", "label_ja": "早期ミオクロニー脳症", "yomigana": "そうきみおくろにーのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201403", "notificationNumber": "72", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201125", "label_en": "Hereditary apolipoprotein A-II amyloidosis", "label_ja": "遺伝性アポリポ蛋白 A-II アミロイドーシス", "yomigana": "いでんせいあぽりぽたんぱくえー2あみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201125", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200397", "label_en": "Congenital lipoid adrenal hyperplasia", "label_ja": "リポイド副腎過形成症", "yomigana": "りぽいどふくじんかけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200397", "notificationNumber": "81", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200619", "label_en": "Paroxysmal cold hemoglobinuria", "label_ja": "発作性寒冷ヘモグロビン尿症", "yomigana": "ほっさせいかんれいへもぐろびんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200619", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100181", "symptoms_en_list": [ "Abnormal urinary color | Arthralgia | Autoimmune hemolytic anemia | Back pain | Coombs-positive hemolytic anemia | Diarrhea | Fever | Headache | Hemoglobinuria | Nausea and vomiting | Recurrent respiratory infections" ], "symptoms_ja_list": [ "Coombs 陽性溶血性貧血 | ヘモグロビン尿 | 下痢 | 反復性呼吸器感染症 | 吐気と 嘔吐 | 尿色異常 | 発熱 | 背部痛 | 自己免疫性溶血性貧血 | 関節痛 | 頭痛" ] }, { "id": "NANDO:2200342", "label_en": "Adenomatous goiter", "label_ja": "腺腫様甲状腺腫", "yomigana": "せんしゅようこうじょうせんしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200342", "notificationNumber": "54", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100122", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200290", "label_en": "Double aortic arch disease", "label_ja": "重複大動脈弓症", "yomigana": "じゅうふくだいどうみゃくきゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200290", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100100", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200310", "label_en": "Polysplenia syndrome", "label_ja": "多脾症候群", "yomigana": "たひしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200310", "notificationNumber": "74", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100107", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200229", "label_en": "Pemphigus vulgaris", "label_ja": "尋常性天疱瘡", "yomigana": "じんじょうせいてんぽうそう", "url": "http://nanbyodata.jp/ontology/NANDO_1200229", "notificationNumber": "35", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Acantholysis | Alopecia of scalp | Anxiety | Atypical scarring of skin | Autoimmunity | Autosomal dominant inheritance | Depression | Feeding difficulties | Feeding difficulties in infancy | Oral mucosal blisters | Pain | Recurrent cutaneous abscess formation | Recurrent infections | Urticaria | Weight loss" ], "symptoms_ja_list": [ "うつ | 不安 | 体重喪失 | 反復性感染症 | 反復性皮膚膿瘍形成 | 口腔粘膜水泡 | 常染色体顕性遺伝 | 有棘細胞解離 | 異常な皮膚水泡 | 疼痛 | 自己免疫 | 蕁麻疹 | 非典型的皮膚瘢痕 | 頭髪禿頭 | 食餌摂取障害 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:2200996", "label_en": "Keratitis-ichthyosis-deafness syndrome", "label_ja": "KID症候群", "yomigana": "けーあいでぃーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200996", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [ "Abnormal facial shape | Abnormality of the dentition | Aplastic/hypoplastic lacrimal glands | Arthritis | Cerebellar vermis hypoplasia | Congenital ichthyosiform erythroderma | Conjunctivitis | Corneal erosion | Corneal neovascularization | Coxa valga | Dandy-Walker malformation | Delayed pubic bone ossification | Equinus calcaneus | Failure to thrive | Follicular hyperkeratosis | Gingivitis | Hypohidrosis | Keratitis | Keratoconjunctivitis sicca | Knee flexion contracture | Nail dystrophy | Neoplasm of the skin | Neoplasm of the tongue | Neurodevelopmental delay | Onychogryphosis | Palmoplantar keratoderma | Patellar hypoplasia | Peripheral neuropathy | Photophobia | Postnatal growth retardation | Prelingual sensorineural hearing impairment | Progeroid facial appearance | Prominent forehead | Psoriasiform dermatitis | Punctate keratitis | Recurrent Candida infection | Recurrent bacterial skin infections | Recurrent cutaneous abscess formation | Recurrent cutaneous fungal infections | Recurrent skin infections | Scarring alopecia of scalp | Sepsis | Severe sensorineural hearing impairment | Skin nodule | Skin plaque | Sparse eyelashes | Sparse hair | Squamous cell carcinoma | Trichilemmoma | Visual loss" ], "symptoms_ja_list": [ "Dandy-Walker 奇形 | プロゲリア様顔貌 | 乾燥性 | 乾癬 | 先天性魚鱗癬型紅皮症 | 分厚い爪 | 反復性カンジダ感染症 | 反復性皮膚カビ感染症 | 反復性皮膚感染症 | 反復性皮膚膿瘍形成 | 反復性細菌性皮膚感染症 | 基底細胞癌 | 外反股 | 小脳虫部低形成 | 恥骨骨化遅延 | 成長障害 (成長不全) | 掌蹠角皮症 | 敗血症 | 末梢神経ニューロパチー | 歯の異常 | 歯肉炎 | 毛包過角化症 | 毛根鞘腫 | 涙腺無形成/低形成 | 減汗症 | 点状角膜炎 | 爪ジストロフィー | 生後の成長遅滞 | 異常な顔の形 | 疎な毛髪 | 疎な睫毛 | 発語前感音難聴 | 皮膚局面 | 皮膚新生物 | 皮膚結節 | 目立つ額 | 神経発生遅延 | 結膜炎 | 羞明 | 膝屈曲拘縮 | 膝蓋骨低形成 | 舌新生物 | 視力喪失 | 角膜びらん | 角膜炎 | 角膜血管新生 | 踵骨尖足 | 重度感音難聴 | 関節炎 | 頭皮の瘢痕性禿頭" ] }, { "id": "NANDO:1200243", "label_en": "Impetigo herpetiformis", "label_ja": "疱疹状膿痂疹", "yomigana": "ほうしんじょうのうかしん", "url": "http://nanbyodata.jp/ontology/NANDO_1200243", "notificationNumber": "37", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201256", "label_en": "Ehlers-Danlos syndrome, classical type", "label_ja": "古典型エーラス・ダンロス症候群", "yomigana": "こてんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201256", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100172", "symptoms_en_list": [ "Abnormal cornea morphology | Abnormal foot morphology | Abnormality of the temporomandibular joint | Acrocyanosis | Aortic root aneurysm | Arterial dissection | Arteriovenous fistula | Arthralgia | Atrophic scars | Bladder diverticulum | Blepharochalasis | Bruising susceptibility | Chronic constipation | Cigarette-paper scars | Dermatochalasis | Dilatation of the cerebral artery | Dislocated radial head | Epicanthus | Fatigue | Fragile skin | Gastroesophageal reflux | Generalized joint hypermobility | Headache | Hiatus hernia | Hip dislocation | Hyperextensible skin | Hypotonia | Incisional hernia | Inguinal hernia | Joint swelling | Limb pain | Mitral regurgitation | Mitral valve prolapse | Molluscoid pseudotumors | Motor delay | Muscle spasm | Muscle weakness | Nausea | Orthostatic hypotension | Osteoarthritis | Osteopenia | Patellar dislocation | Pes planus | Phalangeal dislocation | Poor wound healing | Premature birth | Premature rupture of membranes | Prematurely aged appearance | Prolonged bleeding time | Pulp calcification | Rectal prolapse | Scoliosis | Shoulder dislocation | Soft", "doughy skin | Striae distensae | Talipes equinovarus | Tricuspid valve prolapse | Umbilical hernia | Uterine prolapse | Vomiting" ], "symptoms_ja_list": [ "タバコ巻紙瘢痕 | 三尖弁逸脱 | 伸展線 | 側弯 | 側頭下顎関節の異常 | 傷治癒不全 | 僧帽弁逆流 | 僧帽弁逸脱 | 全身性関節弛緩 | 内反尖足 | 内眼角贅皮 | 出血傾向 | 前期破水 | 動脈解離 | 動静脈瘻 | 吐気 | 嘔吐 | 四肢痛 | 大動脈基部拡大 | 大脳動脈瘤 | 子宮脱 | 慢性便秘 | 扁平足 | 指趾骨脱臼 | 早産 | 早老外観 | 柔らかいパン生地様の皮膚 | 橈骨頭脱臼 | 歯髄石 | 疲労 | 瘢痕ヘルニア | 皮膚弛緩 | 直腸逸脱 | 眼瞼皮膚弛緩症 | 筋けいれん | 筋緊張低下 | 筋虚弱 | 股関節脱臼 | 肢端チアノーゼ | 肩脱臼 | 胃食道逆流 | 脆い皮膚 | 膀胱憩室 | 膝蓋骨脱臼 | 臍ヘルニア | 萎縮性瘢痕 | 裂孔ヘルニア | 角膜の異常 | 起立性低血圧 | 足の異常 | 軟属腫様偽腫瘍 | 運動発達遅滞 | 過伸展皮膚 | 遷出血時間遷延 | 関節痛 | 関節腫脹 | 頭痛 | 骨減少症 | 骨関節炎 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200894", "label_en": "Aicardi-Goutieres syndrome 2", "label_ja": "RNASEH2B欠損症", "yomigana": "あーるえぬえーえすいーえいち2びーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200894", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100244", "symptoms_en_list": [ "Autosomal recessive inheritance | Basal ganglia calcification | Cerebral atrophy | Chronic CSF lymphocytosis | Dystonia | Encephalopathy | Increased total lymphocyte count | Microcephaly | Spastic paraplegia | Variable expressivity" ], "symptoms_ja_list": [ "ジストニア | リンパ球増多症 | 基底核石灰化 | 大脳萎縮 | 小頭 | 常染色体潜性遺伝 | 慢性髄液細胞増多症 | 痙性対麻痺 | 脳症" ] }, { "id": "NANDO:2201338", "label_en": "Pfeiffer syndrome (lambdoid synostosis)", "label_ja": "ファイファー症候群（人字縫合）", "yomigana": "ふぁいふぁーしょうこうぐん（じんじほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201338", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200628", "label_en": "Ichthyosis follicularis", "label_ja": "毛包性魚鱗癬", "yomigana": "もうほうせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200628", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100299", "label_en": "Holt-Oram syndrome", "label_ja": "ホルト・オーラム症候群", "yomigana": "ほると・おーらむしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100299", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100235", "label_en": "Schwartz-Jampel syndrome", "label_ja": "シュワルツ・ヤンペル症候群", "yomigana": "しゅわるつ・やんぺるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100235", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200964", "label_en": "Trisomy 13", "label_ja": "13トリソミー症候群", "yomigana": "13とりそみーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200964", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal antihelix morphology | Abnormal cardiovascular system morphology | Abnormal cranial suture/fontanelle morphology | Abnormal dermatoglyphics | Abnormal eyelash morphology | Abnormal helix morphology | Abnormal lung lobation | Abnormal morphology of female internal genitalia | Abnormal pelvic girdle bone morphology | Abnormal retinal vascular morphology | Abnormal rib morphology | Abnormal speech pattern | Abnormality of the dentition | Abnormality of the eye | Abnormality of the middle ear | Abnormality of the ureter | Abnormality of vision | Anophthalmia | Aplasia/Hypoplasia of the iris | Atrial septal defect | Bilateral single transverse palmar creases | Calvarial skull defect | Capillary hemangioma | Cataract | Chiari malformation | Cleft palate | Cognitive impairment | Cryptorchidism | Cystic hygroma | Deeply set eye | Displacement of the urethral meatus | Ectrodactyly | Hernia | High", "narrow palate | Hydronephrosis | Hydrops fetalis | Hypotelorism | Hypotonia | Intrauterine growth retardation | Iris coloboma | Kyphosis | Long philtrum | Low-set ears | Malar flattening | Median cleft upper lip | Microphthalmia | Multiple renal cysts | Narrow chest | Optic atrophy | Patent ductus arteriosus | Postaxial hand polydactyly | Preauricular pit | Preauricular skin tag | Scoliosis | Seizure | Sensorineural hearing impairment | Severe global developmental delay | Severe intellectual disability | Ventricular septal defect" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | コロボーマ | ヘルニア | 両側性単一手掌横線 | 両眼接近 | 中耳の異常 | 停留精巣 | 側弯 | 動脈管開存症 | 口蓋裂 | 外耳輪の異常 | 外部尿道口位置異常 | 多発性腎嚢胞 | 女性内性器異常 | 子宮内成長遅滞 | 対耳輪の異常 | 小眼球 | 尿管異常 | 平坦な頬 | 後弯 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 感音難聴 | 欠指 | 正中口唇裂 | 歯の異常 | 毛細血管血管腫 | 水滑性嚢腫 | 水腎症 | 泉門と頭蓋骨縫合の異常 | 無眼球 | 狭い胸郭 | 異常な皮膚紋理 | 発作 | 白内障 | 眼の異常 | 睫毛の異常 | 知的障害", "重度 | 神経学的発語障害 | 筋緊張低下 | 網膜血管の異常 | 耳介低位 | 耳介前小孔 | 耳介前皮膚肉柱 | 肋骨の異常 | 肺分葉の異常 | 胎児水腫 | 落ちくぼんだ眼 | 虹彩無形成/低形成 | 視神経萎縮 | 視覚の異常 | 認知障害 | 軸後性多指症 | 重度の全般性発達遅滞 | 長い人中 | 頭蓋骨欠損t | 骨盤帯骨の形態異常 | 高狭口蓋" ] }, { "id": "NANDO:2100221", "label_en": "Progeroid syndromes", "label_ja": "早老症", "yomigana": "そうろうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100221", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200152", "label_en": "Polycystic kidney disease", "label_ja": "多発性嚢胞腎", "yomigana": "たはつせいのうほうじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200152", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100141", "label_en": "Gastrointestinal Hormone Producing Tumors", "label_ja": "消化管ホルモン産生腫瘍", "yomigana": "しょうかかんほるもんさんせいしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2100141", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200910", "label_en": "Persistent cloaca", "label_ja": "総排泄腔遺残", "yomigana": "そうはいせつくういざん", "url": "http://nanbyodata.jp/ontology/NANDO_1200910", "notificationNumber": "293", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abnormal clitoris morphology | Abnormal fallopian tube morphology | Abnormal fibula morphology | Abnormal tibia morphology | Absent foot | Anal atresia | Bladder exstrophy | Cloacal exstrophy | Ectopic kidney | Hemivertebrae | Hip dislocation | Horseshoe kidney | Hydroureter | Hypoplasia of penis | Intestinal duplication | Intestinal malrotation | Myelomeningocele | Omphalocele | Renal hypoplasia/aplasia | Spina bifida | Talipes equinovarus | Ureterocele | Ureteropelvic junction obstruction | Vesicoureteral reflux" ], "symptoms_ja_list": [ "二分脊椎 | 内反尖足 | 半脊椎 | 卵管異常 | 尿管瘤 | 尿管腎盂接合部閉塞 | 水尿管症 | 異所性腎 | 総排泄腔外反 | 股関節脱臼 | 脊髄髄膜瘤 | 脛骨の異常 | 腎低形成/無形成 | 腓骨の異常 | 腸回転異常 | 腸重複 | 膀胱外反症 | 膀胱尿管逆流 | 臍帯ヘルニア | 足欠損 | 鎖肛 | 陰核異常 | 陰茎低形成 | 馬蹄腎" ] }, { "id": "NANDO:2200223", "label_en": "Adenosine sensitive VT", "label_ja": "アデノシン感受性心室頻拍", "yomigana": "あでのしんかんじゅせいしんしつひんぱく", "url": "http://nanbyodata.jp/ontology/NANDO_2200223", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100049", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200657", "label_en": "VATER syndrome", "label_ja": "VATER症候群", "yomigana": "ばーたーしょうこうぐん／ふぁーたーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200657", "notificationNumber": "173", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal intervertebral disk morphology | Abnormal morphology of female internal genitalia | Abnormal nasopharynx morphology | Abnormal rib morphology | Abnormal sacrum morphology | Abnormal sternum morphology | Abnormal vertebral morphology | Abnormality of the gallbladder | Abnormality of the pancreas | Abnormality of the urethra | Absent radius | Ambiguous genitalia | Anal atresia | Anencephaly | Anorectal anomaly | Aplasia/Hypoplasia of the lungs | Aplasia/Hypoplasia of the radius | Bifid scrotum | Cavernous hemangioma | Choanal atresia | Cleft palate | Congenital diaphragmatic hernia | Cryptorchidism | Ectopic kidney | Esophageal atresia | Failure to thrive | Finger syndactyly | Hydronephrosis | Hypoplasia of penis | Hypoplasia of the radius | Hypospadias | Intrauterine growth retardation | Large fontanelles | Laryngeal stenosis | Laryngomalacia | Multicystic kidney dysplasia | Non-midline cleft of the upper lip | Occipital encephalocele | Omphalocele | Patent ductus arteriosus | Patent urachus | Polyhydramnios | Posteriorly rotated ears | Postnatal growth retardation | Preaxial hand polydactyly | Preaxial polydactyly | Premature birth | Radioulnar synostosis | Renal agenesis | Renal dysplasia | Scoliosis | Short thumb | Single umbilical artery | Spina bifida | Sporadic | Syndactyly | Tethered cord | Tetralogy of Fallot | Tracheal stenosis | Tracheoesophageal fistula | Transposition of the great arteries | Triphalangeal thumb | Ureteropelvic junction obstruction | Ventricular septal defect | Vertebral segmentation defect | Vesicoureteral reflux" ], "symptoms_ja_list": [ "Fallot 四徴症 | 三指節母指 | 二分脊椎 | 二分陰嚢 | 仙骨の異常 | 係留脊髄 | 停留精巣 | 側弯 | 先天性横隔膜ヘルニア | 動脈管開存症 | 単一臍帯動脈 | 口蓋裂 | 合指症 | 合指趾症 | 喉頭狭窄 | 喉頭軟化症 | 多嚢胞腎異形成 | 大きな泉門 | 大血管転位 | 女性内性器異常 | 子宮内成長遅滞 | 孤発性 | 尿管腎盂接合部閉塞 | 尿膜管開存 | 尿道下裂 | 尿道異常 | 後頭脳瘤 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心中隔 | 心室中隔欠損 | 性別不明の外性器 | 成長障害 (成長不全) | 早産 | 椎間板の異常 | 橈尺骨癒合 | 橈骨低形成 | 橈骨欠損 | 橈骨無形成/低形成 | 気管狭窄 | 気管食道瘻 | 水腎症 | 海綿状血管腫 | 無脳症 | 生後の成長遅滞 | 異所性腎 | 短い母指 | 羊水過多 | 耳介後方回転 | 肋骨の異常 | 肛門直腸奇形 | 肺無形成/低形成 | 胆嚢の異常 | 胸骨の異常 | 脊椎の異常 | 脊椎分節異常 | 腎無発生 | 腎異形成 | 膀胱尿管逆流 | 膵の異常 | 臍帯ヘルニア | 軸前性多指症 | 軸前性多指趾症 | 鎖肛 | 陰茎低形成 | 非正中口唇裂 | 食道閉鎖 | 鼻咽頭の異常" ] }, { "id": "NANDO:2200324", "label_en": "Central diabetes insipidus", "label_ja": "中枢性尿崩症", "yomigana": "ちゅうすうせいにょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200324", "notificationNumber": "75", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100117", "symptoms_en_list": [ "Anorexia | Anxiety | Dehydration | Depression | Diabetes insipidus | Diarrhea | Excessive daytime somnolence | Failure to thrive | Fever | Headache | Hyponatremia | Lethargy | Nausea and vomiting | Nocturia | Polydipsia | Seizure | Weight loss" ], "symptoms_ja_list": [ "うつ | 下痢 | 不安 | 低ナトリウム血症 | 体重喪失 | 吐気と 嘔吐 | 嗜眠 | 多飲 | 夜尿 | 尿崩症 | 成長障害 (成長不全) | 無気力 | 発作 | 発熱 | 脱水 | 頭痛 | 食思不振" ] }, { "id": "NANDO:1200108", "label_en": "Maroteaux-Lamy syndrome", "label_ja": "マロトー・ラミー症候群", "yomigana": "まろとー・らみーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200108", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal heart valve morphology | Abnormal metaphysis morphology | Anterior wedging of L1 | Anterior wedging of L2 | Arthralgia | Autosomal recessive inheritance | Avascular necrosis | Broad ribs | Caesarean section | Cardiomyopathy | Carious teeth | Cervical myelopathy | Childhood onset | Chronic constipation | Chronic otitis media | Coarse facial features | Cognitive impairment | Constrictive median neuropathy | Corneal opacity | Delayed eruption of teeth | Depressed nasal bridge | Dermatan sulfate excretion in urine | Disproportionate short-trunk short stature | Dolichocephaly | Dysostosis multiplex | Epiphyseal dysplasia | Failure to thrive | Flared iliac wing | Flexion contracture | Genu valgum | Glaucoma | Hearing impairment | Hepatomegaly | Hernia | Hip dysplasia | Hirsutism | Hydrocephalus | Hypoplasia of the odontoid process | Hypoplastic acetabulae | Hypoplastic iliac wing | Infantile onset | Inguinal hernia | Intellectual disability | Joint stiffness | Kyphoscoliosis | Kyphosis | Lumbar hyperlordosis | Macrocephaly | Macroglossia | Metaphyseal irregularity | Metaphyseal widening | Mitral regurgitation | Mitral stenosis | Mucopolysacchariduria | Opacification of the corneal stroma | Ovoid vertebral bodies | Pectus carinatum | Pneumonia | Prominent sternum | Pulmonary arterial hypertension | Pulmonic regurgitation | Recurrent upper respiratory tract infections | Restrictive ventilatory defect | Seizure | Short neck | Short stature | Sinus tachycardia | Sinusitis | Sleep apnea | Splenomegaly | Split hand | Thick lower lip vermilion | Thick nasal alae | Thickened skin | Tricuspid regurgitation | Umbilical hernia | Visual impairment" ], "symptoms_ja_list": [ "L1の前方楔 | L2の前方楔 | はと胸 | ヘルニア | ムコ多糖症 | 三尖弁逆流 | 不均衡性短躯低身長 | 低身長 | 僧帽弁狭窄 | 僧帽弁逆流 | 分厚い下口唇唇紅部 | 分厚い皮膚 | 分厚い鼻翼 | 副鼻腔炎 | 卵形椎体骨 | 反復性上気道感染症 | 収縮性正中神経ニューロパチー | 外反膝 | 多毛 | 多発性異骨症 | 大頭 | 寛骨臼低形成 | 尿中硫酸デルマタン排泄 | 屈曲拘縮 | 巨舌 | 帝王切開 | 常染色体潜性遺伝 | 幅広い肋骨 | 後側弯 | 後弯 | 循環器系の形態異常 | 心弁の異常 | 心筋症 | 慢性中耳炎 | 慢性便秘 | 成長障害 (成長不全) | 拘束性肺疾患 | 歯状突起低形成 | 歯萠出遅延 | 水頭症 | 洞性頻拍 | 無菌性壊死 | 発作 | 目立つ胸骨 | 睡眠時無呼吸 | 知的障害 | 短い頸部 | 粗な顔貌 | 緑内障 | 肝腫 | 股関節異形成 | 肺不全 | 肺炎 | 肺高血圧 | 脾腫 | 腰椎前弯 hyperlordosis | 腸骨翼フレア | 腸骨翼低形成 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 裂手 | 視力障害 | 角膜混濁 | 角膜間質混濁形成 | 認知障害 | 長頭 | 関節拘縮 | 関節痛 | 難聴 | 頚髄ミエロパチー | 骨幹端の異常 | 骨幹端不規則性 | 骨幹端拡大 | 骨端異形成 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2201409", "label_en": "Vitamine B6-dependent epilepsy", "label_ja": "ビタミンB6依存性てんかん", "yomigana": "びたみんびー6いぞんせいてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_2201409", "notificationNumber": "99", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100302", "symptoms_en_list": [ "Abnormality of eye movement | Atonic seizure | Brain atrophy | Delayed CNS myelination | EEG with burst suppression | EEG with generalized epileptiform discharges | EEG with generalized sharp slow waves | EEG with generalized slow activity | Early onset absence seizures | Enlarged cisterna magna | Epileptic spasm | Facial grimacing | Feeding difficulties | Focal myoclonic seizure | Focal-onset seizure | Hypoglycemia | Hypoplasia of the corpus callosum | Hypsarrhythmia | Intellectual disability | Irritability | Lactic acidosis | Meconium stained amniotic fluid | Multifocal epileptiform discharges | Neonatal asphyxia | Neonatal respiratory distress | Neurodevelopmental delay | Prenatal movement abnormality | Restlessness | Seizure | Status epilepticus | Ventriculomegaly | Widened subarachnoid space" ], "symptoms_ja_list": [ "しかめ顔 | てんかん性スパスム | てんかん重積 | ヒプスアリスミア | 不穏状態 | 中枢神経髄鞘形成遅延 | 乳酸性アシドーシス | 低血糖 | 全般性てんかん性放電を伴う脳波 | 全般性徐活動を伴う脳波 | 全般性棘徐波を伴う脳波 | 出生前の運動異常 | 多焦点性てんかん型放電 | 大槽拡大 | 幅広いクモ膜下腔 | 新生児仮死 | 新生児呼吸窮迫 | 早期発症欠伸発作 | 焦点性ミオクロニー発作 | 焦点性発作 | 発作 | 眼運動の異常 | 知的障害 | 神経発生遅延 | 群発‐抑制交代を伴う脳波 | 胎便で汚染された羊水 | 脱力発作 | 脳室拡大 | 脳梁低形成 | 脳萎縮 | 被刺激性 | 食餌摂取障害" ] }, { "id": "NANDO:1200977", "label_en": "Trifunctional protein deficiency, myopathic type", "label_ja": "遅発型三頭酵素欠損症", "yomigana": "ちはつがたさんとうこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200977", "notificationNumber": "317", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200907", "label_en": "Lactose intolerance", "label_ja": "乳糖不耐症", "yomigana": "にゅうとうふたいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200907", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100254", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201121", "label_en": "Systemic AL Amyloidosis", "label_ja": "全身性 AL アミロイドーシス", "yomigana": "ぜんしんせいえーえるあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201121", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal distention | Abnormal EKG | Abnormal autonomic nervous system physiology | Abnormal cardiac atrium morphology | Abnormal cardiac ventricle morphology | Abnormal heart morphology | Abnormal pulmonary interstitial morphology | Abnormal salivary gland morphology | Abnormality of the gastrointestinal tract | Abnormality of the kidney | Albuminuria | Anemia | Arrhythmia | Autonomic erectile dysfunction | Bruising susceptibility | Constrictive median neuropathy | Dysphagia | Dyspnea | Elevated circulating alkaline phosphatase concentration | Erectile dysfunction | Fatigue | Gastrointestinal hemorrhage | Gastroparesis | Hepatic amyloidosis | Hepatomegaly | Hoarse voice | Hypertrophic cardiomyopathy | Hypoalbuminemia | Increased circulating immunoglobulin concentration | Macroglossia | Malabsorption | Nephrotic syndrome | Obstructive sleep apnea | Peripheral edema | Peripheral neuropathy | Postural hypotension with compensatory tachycardia | Proteinuria | Reduced factor X activity | Reduced left ventricular ejection fraction | Renal insufficiency | Sensorimotor neuropathy | Weight loss | Xerostomia" ], "symptoms_ja_list": [ "アルカリホスファターゼ上昇 | アルブミン尿 | ネフローゼ症候群 | 不整脈 | 代償性頻拍を伴う姿勢性低血圧 | 体重喪失 | 出血傾向 | 勃起異常 | 収縮性正中神経ニューロパチー | 口内乾燥症 | 吸収障害 | 呼吸困難 | 唾液腺の異常 | 嗄声 | 嚥下障害 | 巨舌 | 心室の異常 | 心形態の異常 | 心房の異常 | 心電図異常 | 感覚運動ニューロパチー | 末梢性浮腫 | 末梢神経ニューロパチー | 異常な自律神経生理 | 疲労 | 第 X 因子活性の減少 | 肝アミロイドーシス | 肝腫 | 肥大型心筋症 | 胃不全麻痺 | 胃腸出血 | 胃腸管の異常 | 腎不全 | 腎異常 | 腹部膨満 | 自律神経性勃起機能障害 | 蛋白尿 | 貧血 | 閉塞性睡眠時無呼吸 | 間質性肺疾患 | 駆出分画減少 | 高アルブミン血症 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2200555", "label_en": "Aspartylglucosaminuria", "label_ja": "アスパルチルグルコサミン尿症", "yomigana": "あすぱるちるぐるこさみんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200555", "notificationNumber": "111", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal cortical bone morphology | Abnormal facial shape | Abnormal speech pattern | Abnormal vertebral morphology | Abnormality of amino acid metabolism | Abnormality of metabolism/homeostasis | Abnormality of the dentition | Acne | Angiokeratoma corporis diffusum | Anterior beaking of lumbar vertebrae | Anteverted nares | Arthritis | Aspartylglucosaminuria | Atypical behavior | Autosomal recessive inheritance | Beaking of vertebral bodies | Brachycephaly | Broad face | Carious teeth | Cataract | Cerebral atrophy | Childhood onset | Chronic otitis media | Coarse facial features | Decreased total neutrophil count | Delayed skeletal maturation | Delayed speech and language development | Depressed nasal bridge | Developmental regression | Diarrhea | Dyskinesia | Dysostosis multiplex | Generalized hypotonia | Gingival overgrowth | Hepatomegaly | Hernia | Hoarse voice | Hypertelorism | Hypoplastic frontal sinuses | Hypotonia | Inguinal hernia | Intellectual disability | Joint hypermobility | Joint stiffness | Kyphosis | Large face | Macroglossia | Macroorchidism | Malabsorption | Mandibular prognathia | Microcephaly | Microtia | Mitral regurgitation | Pathologic fracture | Pectus carinatum | Pes planus | Platyspondyly | Recurrent respiratory infections | Scoliosis | Seizure | Short nose | Short stature | Sleep disturbance | Spasticity | Splenomegaly | Spondylolisthesis | Spondylolysis | Thick lower lip vermilion | Thick vermilion border | Thickened calvaria | Umbilical hernia | Vacuolated lymphocytes | Vascular skin abnormality | Wide mouth | Wide nasal bridge" ], "symptoms_ja_list": [ "?瘡 | くちばし状椎体骨 | はと胸 | びまん性体部被角血管腫 | アスパルチルグルコサミン尿 | アミノ酸代謝の異常 | ジスキネジア | ヘルニア | 上向きの鼻孔 | 下痢 | 下顎突出 | 両眼隔離 | 代謝/ホメオスターシスの異常 | 低身長 | 側弯 | 僧帽弁逆流 | 全身性筋緊張低下 | 分厚い下口唇唇紅部 | 分厚い唇紅部縁 | 分厚い頭蓋冠 | 前頭洞低形成 | 反復性呼吸器感染症 | 吸収障害 | 嗄声 | 多発性異骨症 | 大きな顔 | 大脳萎縮 | 好中球減少症 | 小耳 | 小頭 | 巨大精巣 | 巨舌 | 常染色体潜性遺伝 | 幅広い口 | 幅広い顔 | 幅広い鼻梁 | 後弯 | 慢性中耳炎 | 扁平脊椎 | 扁平足 | 歯の異常 | 歯肉過成長 | 異常な顔の形 | 病的骨折 | 痙性 | 発作 | 発語および言語発達遅延 | 発達退行 | 白内障 | 睡眠障害 | 知的障害 | 短い鼻 | 短頭 | 神経学的発語障害 | 空胞化リンパ球 | 筋緊張低下 | 粗な顔貌 | 肝腫 | 脊椎すべり症 | 脊椎の異常 | 脊椎分離症 | 脾腫 | 腰椎のくちばし状前方突出 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 血管皮膚異常 | 行動異常 | 関節拘縮 | 関節炎 | 関節過動 | 骨格骨化遅延 | 骨皮質形態異常 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2100262", "label_en": "Acute liver failure with hepatic coma", "label_ja": "急性肝不全（昏睡型）", "yomigana": "きゅうせいかんふぜん（こんすいがた）", "url": "http://nanbyodata.jp/ontology/NANDO_2100262", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200694", "label_en": "Truncus arteriosus communis type I", "label_ja": "総動脈幹遺残症I型", "yomigana": "そうどうみゃくかんいざんしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200694", "notificationNumber": "207", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201427", "label_en": "Thanatophoric dysplasia type 1", "label_ja": "タナトフォリック骨異形成症1型", "yomigana": "たなとふぉりっくこついけいせいしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201427", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal metaphysis morphology | Abnormal sacroiliac joint morphology | Abnormality of the kidney | Acanthosis nigricans | Aplasia/Hypoplasia of the lungs | Atrial septal defect | Autosomal dominant inheritance | Bowing of the long bones | Brachydactyly | Breech presentation | Cloverleaf skull | Congenital onset | Decreased fetal movement | Depressed nasal bridge | Disproportionate short-limb short stature | Excessive wrinkled skin | Femoral bowing | Flared metaphysis | Flat face | Frontal bossing | Global developmental delay | Gray matter heterotopia | Hearing impairment | Hydrocephalus | Hypoplastic ilia | Hypoplastic pelvis | Hypotonia | Increased nuchal translucency | Joint stiffness | Kyphosis | Lethal short-limbed short stature | Macrocephaly | Metaphyseal irregularity | Micromelia | Midface retrusion | Narrow chest | Neonatal death | Neonatal respiratory distress | Patent ductus arteriosus | Platyspondyly | Polyhydramnios | Profound intellectual disability | Prominent forehead | Proptosis | Protuberant abdomen | Pulmonary hypoplasia | Redundant skin | Respiratory insufficiency | Seizure | Severe platyspondyly | Short femur | Short greater sciatic notch | Short long bone | Short neck | Short ribs | Skeletal dysplasia | Small abnormally formed scapulae | Small face | Small foramen magnum | Split hand | Thoracic hypoplasia | Ventriculomegaly | Wide anterior fontanel | Wide-cupped costochondral junctions" ], "symptoms_ja_list": [ "クローバー型頭蓋骨 | 不均衡型短肢低身長 | 仙腸関節の異常 | 全般性発達遅滞 | 前頭突出", "額突出 | 動脈管開存症 | 呼吸不全 | 大腿骨湾曲 | 大頭 | 小さい仙腸骨切痕 | 小さい大孔 | 小さい顔 | 小さな異常形成された肩甲骨 | 小肢症 | 常染色体顕性遺伝 | 幅広い-杯状の肋軟骨接合部 | 幅広い大泉門 | 平坦な顔 | 後弯 | 心房中隔欠損 | 扁平脊椎 | 新生児呼吸窮迫 | 水頭症 | 狭い胸郭 | 発作 | 目立つ額 | 眼球突出 | 知的障害", "最重度 | 短い大腿骨 | 短い肋骨 | 短い長管骨 | 短い頸部 | 短指症候群 | 筋緊張低下 | 組織異所発生 | 羊水過多 | 肺低形成 | 肺無形成/低形成 | 胎動減少 | 胸郭低形成 | 脳室拡大 | 腎異常 | 腸骨低形成 | 腹部突出 | 致死性短肢低身長 | 落ちくぼんだ鼻梁 | 裂手 | 過剰な皮膚 | 過剰な皺の多い皮膚 | 重度の扁平脊椎 | 長管骨湾曲 | 関節拘縮 | 難聴 | 項部透過性増加 | 顔面中部後退 | 骨幹端の異常 | 骨幹端フレア | 骨幹端不規則性 | 骨格異形成 | 骨盤位 | 骨盤低形成 | 黒色表皮腫" ] }, { "id": "NANDO:2200973", "label_en": "Hallermann-Streiff syndrome", "label_ja": "ハーラマン・ストライフ症候群", "yomigana": "はーらまん・すとらいふしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200973", "notificationNumber": "30", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abdominal situs inversus | Abnormal cardiovascular system morphology | Abnormal cranial suture/fontanelle morphology | Abnormal rib cage morphology | Abnormal skull morphology | Abnormality of hair texture | Abnormality of the dentition | Abnormality of the hand | Abnormality of the tongue | Alopecia | Bilateral tonic-clonic seizure | Blue sclerae | Brachycephaly | Cataract | Cerebellar hypoplasia | Choanal atresia | Choreoathetosis | Chorioretinal coloboma | Clinodactyly of the 5th finger | Congestive heart failure | Convex nasal ridge | Cryptorchidism | Decreased number of sternal ossification centers | Dental malocclusion | Dermal atrophy | Developmental cataract | Dolichocephaly | Downslanted palpebral fissures | Dry skin | Everted lower lip vermilion | Fine hair | Frontal bossing | Glaucoma | Glossoptosis | High palate | High", "narrow palate | Hyperactivity | Hyperlordosis | Hypertension | Hypothyroidism | Intellectual disability | Iris coloboma | Joint hypermobility | Low-set ears | Malar flattening | Metaphyseal widening | Microcephaly | Micrognathia | Microphthalmia | Myopia | Narrow mouth | Narrow nose | Narrow palate | Natal tooth | Nystagmus | Obstructive sleep apnea | Optic disc coloboma | Parietal bossing | Pectus excavatum | Platybasia | Prominent nasal bridge | Proportionate short stature | Pulmonary arterial hypertension | Recurrent fractures | Recurrent pneumonia | Recurrent respiratory infections | Reduced bone mineral density | Respiratory insufficiency | Rib exostoses | Scoliosis | Selective tooth agenesis | Short foot | Short ribs | Slender long bone | Small for gestational age | Small hand | Sparse body hair | Sparse eyelashes | Sparse hair | Sparse scalp hair | Spina bifida | Sporadic | Strabismus | Supernumerary tooth | Telangiectasia | Telecanthus | Thin calvarium | Thin ribs | Thin vermilion border | Tracheomalacia | Underdeveloped nasal alae | Uveitis | Visual impairment | Wormian bones" ], "symptoms_ja_list": [ "うっ血性心不全 | ウォルム氏骨 | コロボーマ | ブドウ膜炎 | 下口唇唇紅部外反 | 不均衡型低身長 | 不正咬合 | 乾いた皮膚 | 二分脊椎 | 停留精巣 | 側弯 | 先天性白内障 | 全身性間代性強直性発作 | 内眼角外方偏位 | 凸の鼻梁 | 出産歯 | 前弯 | 前頭突出", "額突出 | 反復性呼吸器感染症 | 反復性肺炎 | 反復性骨折 | 呼吸不全 | 在胎月齢より小さい児 | 多動 | 孤発性 | 小さい手 | 小眼球 | 小脳低形成 | 小頭 | 小顎 | 平坦な頬 | 後鼻孔閉鎖 | 循環器系の形態異常 | 扁平頭蓋底 | 手の異常 | 斜視 | 歯の異常 | 歯数増加 | 毛細血管拡張 | 毛髪質の異常 | 気管軟化症 | 泉門と頭蓋骨縫合の異常 | 漏斗胸 | 狭い口 | 狭い口蓋 | 狭い鼻 | 甲状腺機能低下症 | 疎な体毛 | 疎な毛髪 | 疎な睫毛 | 疎な頭髪 | 白内障 | 皮膚萎縮 | 目立つ鼻梁 | 眼振 | 眼瞼裂斜下 | 知的障害 | 短い肋骨 | 短い足 | 短頭 | 禿頭 | 第5指弯指 | 細い毛髪 | 細い肋骨 | 細い長管骨 | 緑内障 | 耳介低位 | 肋骨外骨症 | 肋骨胸郭の異常 | 肺高血圧 | 胸骨骨化中心数の減少 | 脈絡膜網膜コロボーマ | 腹部内臓逆位 | 舌の異常 | 舌根沈下 | 舞踏病アテトーゼ | 薄い唇紅部縁 | 薄い頭蓋冠 | 視力障害 | 視神経コロボーマ | 近視 | 選択的歯無発生 | 長頭 | 閉塞性睡眠時無呼吸 | 関節過動 | 青色胸膜 sclerae | 頭蓋骨の異常 | 頭頂突出 | 骨ミネラル濃度減少 | 骨幹端拡大 | 高口蓋 | 高狭口蓋 | 高血圧 | 鼻翼未発達" ] }, { "id": "NANDO:1201084", "label_en": "Acid sphingomyelinase deficiency", "label_ja": "酸性スフィンゴミエリナーゼ欠損症", "yomigana": "さんせいすふぃんごみえりなーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201084", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201111", "label_en": "Methylcobalamin deficiency cblG type ", "label_ja": "コバラミン代謝異常 cblG", "yomigana": "こばらみんたいしゃいじょう しーびーえるじー", "url": "http://nanbyodata.jp/ontology/NANDO_2201111", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Autosomal recessive inheritance | Blindness | Cerebral atrophy | Decreased circulating methylcobalamin concentration | Decreased methionine synthase activity | Decreased total neutrophil count | Diarrhea | Failure to thrive | Feeding difficulties | Gait disturbance | Generalized-onset seizure | Global developmental delay | Growth delay | Homocystinuria | Hyperhomocystinemia | Hypomethioninemia | Hypotonia | Incoordination | Infantile onset | Intellectual disability | Jaundice | Lethargy | Megaloblastic anemia | Methylmalonic aciduria | Microcephaly | Neonatal onset | Nystagmus | Pes planus | Respiratory distress | Respiratory failure | Rotary nystagmus | Seizure | Severe global developmental delay | Short stature | Slender finger | Spasticity | Vomiting" ], "symptoms_ja_list": [ "ホモシスチン尿 | メチオニン合成酵素活性の減少 | メチルコバラミンの減少 | メチルマロン酸尿 | 下痢 | 低メチオニン血症 | 低身長 | 全般性発達遅滞 | 全身性発作 | 協調運動障害 | 呼吸不全 | 呼吸窮迫 | 嘔吐 | 回転性眼振 | 大脳萎縮 | 好中球減少症 | 小頭 | 巨赤芽球性貧血 | 常染色体潜性遺伝 | 成長遅滞 | 成長障害 (成長不全) | 扁平足 | 歩行障害 | 無気力 | 痙性 | 発作 | 盲 | 眼振 | 知的障害 | 筋緊張低下 | 細い指 | 重度の全般性発達遅滞 | 食餌摂取障害 | 高ホモシスチン血症 | 黄疸" ] }, { "id": "NANDO:2200479", "label_en": "Ornithine transcarbamylase deficiency", "label_ja": "オルニチントランスカルバミラーゼ欠損症", "yomigana": "おるにちんとらんすかるばみらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200479", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abdominal pain | Adult onset | Aminoaciduria | Anorexia | Anxiety | Ataxia | Attention deficit hyperactivity disorder | Cerebral edema | Childhood onset | Coma | Conjugated hyperbilirubinemia | Depression | Drowsiness | Elevated circulating hepatic transaminase concentration | Encephalopathy | Episodic ammonia intoxication | Episodic ataxia | Episodic vomiting | Failure to thrive | Global developmental delay | Hepatic failure | Hyperammonemia | Hyperglutaminemia | Hypoargininemia | Hypoglycemia | Hypothermia | Hypotonia | Infantile onset | Intellectual disability | Irritability | Juvenile onset | Lethargy | Low plasma citrulline | Neonatal onset | Oroticaciduria | Poor suck | Prolonged partial thromboplastin time | Prolonged prothrombin time | Protein avoidance | Respiratory alkalosis | Seizure | Specific learning disability | Splenomegaly | Stroke | Vomiting | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うつ | アミノ酸尿 | アンモニア中毒エピソード | オロチン酸尿 | プロトロンビン時間遷延 | 不安 | 低アルギニン血症 | 低体温 | 低血糖 | 全般性発達遅滞 | 卒中 | 吸啜不全 | 嘔吐 | 嘔吐エピソード | 大脳浮腫 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 昏睡 | 注意力欠陥多動性疾患 | 活性減少アルカローシス | 無気力 | 特異的学習障害 | 発作 | 眠気 | 知的障害 | 筋緊張低下 | 肝トランスアミナーゼ上昇 | 肝不全 | 脳症 | 脾腫 | 腹痛 | 蛋白回避 | 血症シトルリン低値 | 被刺激性 | 運動失調 | 運動失調エピソード | 部分的トロンボプラスチン時間遷延 | 食思不振 | 高アンモニア血症 | 高グルタミン血症" ] }, { "id": "NANDO:2201333", "label_en": "Antley-Bixler syndrome (lambdoid synostosis)", "label_ja": "アントレー・ビクスラー症候群（人字縫合）", "yomigana": "あんとれー・びくすらーしょうこうぐん（じんじほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201333", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200827", "label_en": "Neurocutaneous melanosis", "label_ja": "神経皮膚黒色症", "yomigana": "しんけいひふこくしょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200827", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100220", "symptoms_en_list": [ "Abnormal retinal pigmentation | Abnormality of neuronal migration | Aphasia | Aplasia/Hypoplasia of the cerebellum | Arachnoid cyst | Atypical behavior | Central scotoma | Chiari malformation | Chorioretinal coloboma | Choroid plexus papilloma | Cranial nerve paralysis | Dandy-Walker malformation | Death in infancy | Dysphagia | EEG abnormality | Functional abnormality of the bladder | Generalized hirsutism | Generalized hyperpigmentation | Global developmental delay | Headache | Hemiparesis | Hydrocephalus | Hypoglycorrhachia | Increased CSF protein concentration | Increased intracranial pressure | Infectious encephalitis | Intellectual disability | Intracranial hemorrhage | Irritability | Melanocytic nevus | Melanoma | Meningioma | Meningocele | Mental deterioration | Neoplasm | Numerous congenital melanocytic nevi | Optic atrophy | Papilledema | Pruritus | Psychosis | Renal hypoplasia/aplasia | Seizure | Setting-sun eye phenomenon | Sleep-wake cycle disturbance | Spinal cord compression | Sporadic | Syringomyelia | Thickened skin | Typified by somatic mosaicism | Venous thrombosis | Ventriculomegaly | Visual impairment" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | Dandy-Walker 奇形 | くも膜嚢胞 | ニューロン移動の異常 | メラニン細胞母斑 | 中心暗点 | 乳頭浮腫 | 体細胞モザイク | 全般性発達遅滞 | 全身性多毛 | 全身性高色素 | 分厚い皮膚 | 嚥下障害 | 多数の先天性メラニン細胞母斑 | 失語症 | 孤発性 | 小脳無形成/低形成 | 掻痒 | 新生物 | 水頭症 | 片側不全麻痺 | 発作 | 睡眠-覚醒周期障害 | 知的障害 | 知能悪化 | 精神病 | 網膜色素異常 | 脈絡膜叢乳頭腫 | 脈絡膜網膜コロボーマ | 脊髄圧迫 | 脊髄空洞症 | 脳室拡大 | 脳波異常 | 脳炎 | 脳神経麻痺 | 腎低形成/無形成 | 膀胱機能異常 | 落陽眼現象 | 行動異常 | 被刺激性 | 視力障害 | 視神経萎縮 | 静脈血栓症 | 頭痛 | 頭蓋内出血 | 頭蓋内圧の増加 | 髄液タンパクの増加 | 髄液糖減少症 | 髄膜瘤 | 髄膜腫 | 黒色腫" ] }, { "id": "NANDO:1200700", "label_en": "Complete transposition of the great arteries (Group1)", "label_ja": "完全大血管転位症I型", "yomigana": "かんぜんだいけっかんてんいしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200700", "notificationNumber": "209", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200570", "label_en": "Focal cortical dysplasia type 3a", "label_ja": "限局性皮質異形成タイプ3a", "yomigana": "げんきょくせいひしついけいせいたいぷ3えー", "url": "http://nanbyodata.jp/ontology/NANDO_1200570", "notificationNumber": "137", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200604", "label_en": "Typical Rett syndrome", "label_ja": "典型的レット症候群", "yomigana": "てんけいてきれっとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200604", "notificationNumber": "156", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal T-wave | Abnormal autonomic nervous system physiology | Abnormal muscle tone | Abnormal pattern of respiration | Abnormality of the dentition | Absent speech | Agitation | Apnea | Autistic behavior | Bradykinesia | Bruxism | Cachexia | Cerebral cortical atrophy | Childhood onset | Cholecystitis | Constipation | Developmental regression | Dystonia | EEG abnormality | Failure to thrive | Floppy infant | Gait apraxia | Gait ataxia | Gait disturbance | Gastroesophageal reflux | Global developmental delay | Growth delay | Hyperammonemia | Inability to walk | Increased CSF lactate | Increased circulating lactate concentration | Increased circulating pyruvate concentration | Intermittent hyperventilation | Kyphosis | Motor deterioration | Motor stereotypy | Primary microcephaly | Profound intellectual disability | Progressive language deterioration | Progressive microcephaly | Prolonged QTc interval | Scoliosis | Secondary microcephaly | Seizure | Short foot | Short stature | Skeletal muscle atrophy | Sleep disturbance | Spasticity | Stereotypical hand wringing | Truncal ataxia | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | ジストニア | 不穏 | 乳児筋性筋緊張低下 | 低身長 | 体幹失調 | 便秘 | 側弯 | 先天性小頭 | 全般性発達遅滞 | 呼吸パターンの異常 | 大脳皮質萎縮 | 常同的手絞り動作 | 常同行動 | 後弯 | 心電図: T-波異常 | 悪液質 (カヘキシー) | 成長遅滞 | 成長障害 (成長不全) | 歩行不能 | 歩行失行 | 歩行失調 | 歩行障害 | 歯ぎしり | 歯の異常 | 無呼吸 | 生後の小頭 | 異常な筋緊張 | 異常な自律神経生理 | 痙性 | 発作 | 発語欠損 | 発達退行 | 睡眠障害 | 知的障害", "最重度 | 短い足 | 筋萎縮 | 胃食道逆流 | 胆嚢炎 | 脳波異常 | 自閉性行動 | 血清ピルビン酸増加 | 血清乳酸増加 | 進行性小頭 | 進行性言語悪化 | 運動発達悪化 | 運動緩徐 | 遷延性 QTc 間隔 | 間歇的過換気 | 髄液乳酸増加 | 高アンモニア血症" ] }, { "id": "NANDO:2200414", "label_en": "Bardet-Biedl syndrome", "label_ja": "バルデー・ビードル症候群", "yomigana": "ばるでー・びーどるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200414", "notificationNumber": "90", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100150", "symptoms_en_list": [ "Abnormal electroretinogram | Abnormal heart morphology | Abnormal oral cavity morphology | Abnormal speech pattern | Abnormality of the endocrine system | Abnormality of the gastrointestinal tract | Abnormality of the genitourinary system | Abnormality of the sense of smell | Aganglionic megacolon | Anxiety | Aplasia/Hypoplasia of the vagina | Asthma | Astigmatism | Ataxia | Atypical behavior | Autism | Blindness | Brachydactyly | Cardiomyopathy | Cataract | Celiac disease | Childhood-onset truncal obesity | Chronic kidney disease | Cognitive impairment | Color vision defect | Cone/cone-rod dystrophy | Cryptorchidism | Decreased circulating HDL-C concentration | Decreased testicular size | Delayed speech and language development | Dental crowding | Depressed nasal bridge | Depression | Downslanted palpebral fissures | Elevated circulating hepatic transaminase concentration | Emotional lability | Fifth finger distal phalanx clinodactyly | Finger syndactyly | Generalized hirsutism | Hearing impairment | Hepatic fibrosis | Hepatic steatosis | High palate | Horseshoe kidney | Hydronephrosis | Hypertelorism | Hypertension | Hypertriglyceridemia | Hypodontia | Hypogonadism | Hypoplasia of penis | Hypoplasia of the ovary | Hypothyroidism | Infertility | Inflammation of the large intestine | Insulin resistance | Intellectual disability | Irregular menstruation | Joint hypermobility | Long philtrum | Macrotia | Medial flaring of the eyebrow | Microdontia | Multiple renal cysts | Nasal dysarthria | Nephrotic syndrome | Neurodevelopmental delay | Neurogenic bladder | Nyctalopia | Nystagmus | Obesity | Otitis media | Photophobia | Polycystic ovaries | Postaxial polydactyly | Posteriorly rotated ears | Prominent nasal bridge | Reduced visual acuity | Retinal dystrophy | Retrognathia | Rhinitis | Seizure | Short attention span | Short neck | Short stature | Skeletal muscle atrophy | Spasticity | Specific learning disability | Strabismus | Syndactyly | Talipes equinovarus | Type II diabetes mellitus | Vesicoureteral reflux" ], "symptoms_ja_list": [ "II 型糖尿病 | うつ | インスリン抵抗性 | セリアック秒 | ネフローゼ症候群 | 下顎後退 | 不妊 | 不安 | 両眼隔離 | 中心視力減少 | 中耳炎 | 乱視 | 低身長 | 停留精巣 | 全身性多毛 | 内分泌系異常 | 内反尖足 | 卵巣低形成 | 口腔の異常 | 合指症 | 合指趾症 | 喘息 | 嗅覚の異常 | 多嚢胞性卵巣 | 多発性腎嚢胞 | 夜盲症 | 大耳 | 大腸の炎症 | 小児期発症体幹肥満 | 小歯 | 心形態の異常 | 心筋症 | 性腺機能低下症 | 情動不安定 | 慢性腎疾患 | 斜視 | 月経不純 | 歯混雑 | 水腎症 | 泌尿生殖器異常 | 減歯症 | 無神経節性巨大結腸 | 特異的学習障害 | 甲状腺機能低下症 | 痙性 | 発作 | 発語および言語発達遅延 | 白内障 | 目立つ鼻梁 | 盲 | 眉毛の内側フレア | 眼振 | 眼瞼裂斜下 | 知的障害 | 短い注意期間 | 短い頸部 | 短指症候群 | 神経因性膀胱 | 神経学的発語障害 | 神経発生遅延 | 第5指末節骨の弯指 | 筋萎縮 | 精巣サイズ減少 | 網膜ジストロフィー | 網膜電図異常 | 羞明 | 耳介後方回転 | 肝トランスアミナーゼ上昇 | 肝線維症 | 肥満 | 胃腸管の異常 | 脂肪肝 | 膀胱尿管逆流 | 膣無形成/低形成 | 自閉症 | 色覚異常 | 落ちくぼんだ鼻梁 | 行動異常 | 認知障害 | 軸後性多指趾症 | 運動失調 | 錐体杆体ジストロフィー | 長い人中 | 関節過動 | 陰茎低形成 | 難聴 | 馬蹄腎 | 高αリポ蛋白血症 | 高トリグリセリド血症 | 高口蓋 | 高血圧 | 鼻声の構音障害性発語 | 鼻炎" ] }, { "id": "NANDO:1200640", "label_en": "Griscelli syndrome", "label_ja": "グリセリ症候群", "yomigana": "ぐりせりしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200640", "notificationNumber": "164", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal circulating lipid concentration | Abnormal eyebrow morphology | Abnormal eyelash morphology | Abnormality of movement | Abnormality of neutrophils | Ascites | Ataxia | Bone marrow hypocellularity | Cranial nerve paralysis | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Diminished deep tendon reflex | Encephalocele | Fever | Global developmental delay | Hepatitis | Hepatomegaly | Hydrocephalus | Hypopigmented skin patches | Hypotonia | Immunodeficiency | Intellectual disability | Iris hypopigmentation | Jaundice | Lymphadenopathy | Nystagmus | Pedal edema | Premature graying of hair | Pyloric stenosis | Seizure | Short stature | Silver-gray hair | Spasticity | Splenomegaly | Thrombocytopenia | White hair" ], "symptoms_ja_list": [ "リンパ節腫大 | 低ガンマグロブリン血症 | 低色素性皮膚斑 | 低身長 | 免疫不全 | 全般性発達遅滞 | 好中球の異常 | 幽門狭窄 | 早発性毛髪白髪 | 水頭症 | 浮腫 (下肢) | 痙性 | 発作 | 発熱 | 白血球減少症 | 白髪 | 眉毛の異常 | 眼振 | 睫毛の異常 | 知的障害 | 筋緊張低下 | 肝炎 | 肝腫 | 脂質代謝の異常 | 脳瘤 | 脳神経麻痺 | 脾腫 | 腱反射減少 | 腹水 | 虹彩低色素 | 血小板減少 | 運動の異常 | 運動失調 | 銀髪 | 骨髄細胞数増多 | 黄疸" ] }, { "id": "NANDO:2200100", "label_en": "obsolete Primitive neuroectodermal tumour of the central nervous system", "label_ja": "obsolete 中枢神経系原始神経外胚葉性腫瘍", "yomigana": "ちゅうすうしんけいけいげんししんけいがいはいようせいしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200100", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200119", "label_en": "Galactosialidosis", "label_ja": "ガラクトシアリドーシス", "yomigana": "がらくとしありどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200119", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal vertebral morphology | Abnormality of the vertebral column | Autosomal recessive inheritance | Cherry red spot of the macula | Coarse facial features | Conjunctival telangiectasia | Corneal opacity | Decreased beta-galactosidase activity | Dysostosis multiplex | Hearing impairment | Hemangioma | Hepatosplenomegaly | Intellectual disability | Nonimmune hydrops fetalis | Opacification of the corneal stroma | Seizure | Severe short stature | Skeletal dysplasia | Visceromegaly" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | 内臓肥大 | 多発性異骨症 | 常染色体潜性遺伝 | 発作 | 知的障害 | 粗な顔貌 | 結膜毛細血管拡張 | 肝脾腫 | 脊柱の異常 | 脊椎の異常 | 血管腫 | 角膜混濁 | 角膜間質混濁形成 | 重度の低身長 | 難聴 | 非免疫性胎児水腫 | 骨格異形成 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2200120", "label_en": "obsolete Galloway-Mowat syndrome", "label_ja": "obsolete ギャロウェイ・モワト症候群", "yomigana": "ぎゃろうぇい・もわとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200120", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200946", "label_en": "Delayed endolymphatic hydrops", "label_ja": "遅発性内リンパ水腫", "yomigana": "ちはつせいないりんぱすいしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_1200946", "notificationNumber": "305", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200327", "label_en": "Zap-70 deficiency", "label_ja": "ZAP-70欠損症", "yomigana": "ざっぷ70けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200327", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal lymph node morphology | Abnormal total B cell count | Absence of CD8+ T cells | Autoimmune hemolytic anemia | Autoimmune thrombocytopenia | Autosomal recessive inheritance | Chronic diarrhea | Colitis | Decreased total CD8+ T cell proportion | Eczematoid dermatitis | Failure to thrive | Hepatomegaly | Hepatosplenomegaly | Increased total eosinophil count | Increased total lymphocyte count | Infantile onset | Lymphadenitis | Lymphadenopathy | Lymphoma | Lymphoproliferative disorder | Nephrotic syndrome | Panhypogammaglobulinemia | Pneumonia | Recurrent Candida infection | Recurrent bacterial infections | Recurrent bacterial skin infections | Recurrent infection of the gastrointestinal tract | Recurrent mucocutaneous candidiasis | Recurrent mycobacterial infections | Recurrent opportunistic infections | Recurrent oral thrush | Recurrent respiratory infections | Recurrent upper and lower respiratory tract infections | Recurrent viral infections | Skin rash | Splenomegaly | Stomatitis | Stroke | obsolete Impaired lymphocyte transformation with phytohemagglutinin" ], "symptoms_ja_list": [ "B 細胞数の異常 | CD8+ T 細胞数の減少 | CD8+ T 細胞欠損 | PHによるリンパ球変態障害 | ネフローゼ症候群 | リンパ増殖性疾患 | リンパ球増多症 | リンパ節の異常 | リンパ節炎 | リンパ節腫大 | リンパ腫 | 卒中 | 反復性ウイルス感染症 | 反復性カンジダ感染症 | 反復性マイコバクテリウム感染症 | 反復性上気道および下気道感染症 | 反復性呼吸器感染症 | 反復性日和見感染症 | 反復性細菌性皮膚感染症 | 反復性細菌感染症 | 口内炎 | 好酸球増多症 | 常染色体潜性遺伝 | 慢性下痢 | 慢性口腔カンジダ症 | 慢性粘膜皮膚カンジダ症 | 成長障害 (成長不全) | 汎低ガンマグロブリン血症 | 湿疹 | 皮膚発疹 | 結腸炎 | 肝脾腫 | 肝腫 | 肺炎 | 胃腸管の反復感染症 | 脾腫 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少" ] }, { "id": "NANDO:1200018", "label_en": "Charcot-Marie-Tooth disease type 2", "label_ja": "軸索型シャルコー・マリー・トゥース病", "yomigana": "じくさくがたしゃるこー・まりー・とぅーすびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200018", "notificationNumber": "10", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200146", "label_en": "Bartter syndrome", "label_ja": "バーター症候群", "yomigana": "ばーたーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200146", "notificationNumber": "30", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100021", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Short stature" ], "symptoms_ja_list": [ "代謝/ホメオスターシスの異常 | 低身長" ] }, { "id": "NANDO:1201171", "label_en": "neonatal-onset form with congenital anomalies Glutaric acidaemia type 2", "label_ja": "グルタル酸血症2型新生児期発症型", "yomigana": "ぐるたるさんけっしょう2がたしんせいじきはっしょうがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201171", "notificationNumber": "250", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100183", "label_en": "Hereditary hemolytic anemia", "label_ja": "遺伝性溶血性貧血", "yomigana": "いでんせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2100183", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200083", "label_en": "Multiple sulfatase deficiency", "label_ja": "マルチプルサルファターゼ欠損症", "yomigana": "まるちぷるさるふぁたーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200083", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal periventricular white matter morphology | Abnormal retinal pigmentation | Abnormality of peripheral nerve conduction | Anteverted nares | Ataxia | Autosomal recessive inheritance | Broad hallux | Broad hallux phalanx | Broad thumb | CNS demyelination | Cataract | Cerebellar atrophy | Cerebral atrophy | Coarse facial features | Coarse hair | Corneal opacity | Depressed nasal bridge | Developmental regression | Dysostosis multiplex | Flat face | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrocephalus | Hypoplastic vertebral bodies | Ichthyosis | Increased CSF protein concentration | Intellectual disability | Joint stiffness | Large forehead | Lower limb hyperreflexia | Macrocephaly | Microcephaly | Mucopolysacchariduria | Neonatal hypotonia | Optic atrophy | Periorbital edema | Peripheral demyelination | Prominent forehead | Rapid neurologic deterioration | Retinal degeneration | Seizure | Sensorineural hearing impairment | Short stature | Smooth philtrum | Spasticity | Splenomegaly | Thick eyebrow | Ventriculomegaly | Visual impairment" ], "symptoms_ja_list": [ "ムコ多糖症 | 上向きの鼻孔 | 下肢反射亢進 | 中枢神経脱髄 | 低身長 | 全般性発達遅滞 | 分厚い眉毛 | 多発性異骨症 | 大きな額 | 大脳萎縮 | 大頭 | 小脳萎縮 | 小頭 | 常染色体潜性遺伝 | 幅広い母指 | 幅広い母趾 | 幅広い母趾趾骨 | 平坦な人中 | 平坦な顔 | 急速神経学的悪化 | 感音難聴 | 新生児筋緊張低下 | 末梢神経伝導の異常 | 末梢神経脱髄 | 椎体骨低形成 | 水頭症 | 痙性 | 発作 | 発達退行 | 白内障 | 目立つ額 | 眼窩周囲浮腫 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 網膜変性 | 網膜色素異常 | 肝腫 | 脳室周囲白質の異常 | 脳室拡大 | 脾腫 | 落ちくぼんだ鼻梁 | 視力障害 | 視神経萎縮 | 角膜混濁 | 運動失調 | 関節拘縮 | 難聴 | 髄液タンパクの増加 | 魚鱗癬" ] }, { "id": "NANDO:1200819", "label_en": "Hepatoerythropoietic porphyria", "label_ja": "肝性骨髄性ポルフィリン症", "yomigana": "かんせいこつずいせいぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200819", "notificationNumber": "254", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal bleeding | Abnormal blistering of the skin | Abnormal circulating enzyme concentration or activity | Abnormal circulating porphyrin concentration | Abnormality of the amniotic fluid | Blindness | Corneal ulceration | Ectropion | Edema | Erythroid hyperplasia | Facial hypertrichosis | Fragile skin | Hemolytic anemia | Hyperpigmentation of the skin | Hypopigmentation of the skin | Keratoconjunctivitis | Loss of eyelashes | Nonimmune hydrops fetalis | Osteolysis | Osteopenia | Osteoporosis | Paresthesia | Pruritus | Recurrent bacterial skin infections | Scarring | Scarring alopecia of scalp | Scleritis | Severe photosensitivity | Skin erosion | Splenomegaly | Thickened skin" ], "symptoms_ja_list": [ "ヘム生合成経路の異常 | 分厚い皮膚 | 反復性細菌性皮膚感染症 | 外反(眼瞼) | 感覚異常 | 掻痒 | 浮腫 | 溶血性貧血 | 異常な出血 | 異常な皮膚水泡 | 瘢痕 | 皮膚びらん | 皮膚低色素 | 皮膚高色素 | 盲 | 睫毛喪失 | 羊水の異常 | 胸膜炎 | 脆い皮膚 | 脾腫 | 角結膜炎 | 角膜潰瘍 | 赤芽球系過形成 | 重度の光線過敏症 | 非免疫性胎児水腫 | 頭皮の瘢痕性禿頭 | 顔面多毛症 | 骨減少症 | 骨粗鬆症 | 骨融解 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2200774", "label_en": "Trypanosomiasis", "label_ja": "トリパノソーマ感染症", "yomigana": "とりぱのそーまかんせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200774", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200902", "label_en": "Autoimmune encephalitis", "label_ja": "自己免疫介在性脳炎・脳症", "yomigana": "じこめんえきかいざいせいのうえん・のうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200902", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100248", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200905", "label_en": "Chronic inflammatory demyelinating polyneuropathy", "label_ja": "慢性炎症性脱髄性多発神経炎", "yomigana": "まんせいえんしょうせいだつずいせいたはつしんけいえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200905", "notificationNumber": "102", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100251", "symptoms_en_list": [ "Acute demyelinating polyneuropathy | Areflexia | Autosomal dominant inheritance | Decreased nerve conduction velocity | Difficulty climbing stairs | Falls | Gait disturbance | Motor conduction block | Paresthesia | Peripheral demyelination | Peripheral neuropathy | Segmental peripheral demyelination/remyelination | Sensory ataxia | Somatic sensory dysfunction | Spontaneous pain sensation | Unsteady gait" ], "symptoms_ja_list": [ "不安定歩行 | 分節性末梢神経脱髄/再髄鞘形成 | 常染色体顕性遺伝 | 急性脱髄性ポリニューロパチー | 感覚失調 | 感覚異常 | 感覚障害 | 末梢神経ニューロパチー | 末梢神経脱髄 | 歩行障害 | 無反射 | 神経活動電位の振幅減少 | 自然疼痛 | 転倒 | 運動性伝導ブロック | 階段の登り困難" ] }, { "id": "NANDO:2201190", "label_en": "Beta-mannosidosis", "label_ja": "β-マンノシドーシス", "yomigana": "べーたまんのしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201190", "notificationNumber": "128", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal facial shape | Abnormal speech pattern | Aggressive behavior | Angiokeratoma | Autosomal recessive inheritance | Demyelinating peripheral neuropathy | Generalized hypotonia | Hearing impairment | Hyperactivity | Hypoplasia of the abdominal wall musculature | Hypotonia | Increased urinary disaccharide excretion | Infantile onset | Intellectual disability | Recurrent infections | Recurrent respiratory infections | Seizure | Tortuosity of conjunctival vessels" ], "symptoms_ja_list": [ "全身性筋緊張低下 | 反復性呼吸器感染症 | 反復性感染症 | 多動 | 尿中二糖類排泄増加 | 常染色体潜性遺伝 | 攻撃的行動 | 異常な顔の形 | 発作 | 知的障害 | 神経学的発語障害 | 筋緊張低下 | 結膜血管蛇行 | 脱髄性末梢運動神経ニューロパチー | 腹壁筋低形成 | 被角血管腫 | 難聴" ] }, { "id": "NANDO:2201348", "label_en": "Spondyloepiphyseal dysplasia congenita", "label_ja": "先天性脊椎骨端異形成症", "yomigana": "せんてんせいせきついこったんいけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201348", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal foot morphology | Abnormal respiratory system physiology | Abnormally ossified vertebrae | Arthralgia | Atlantoaxial instability | Autosomal dominant inheritance | Back pain | Barrel-shaped chest | Bifid uvula | Cervical instability | Cervical myelopathy | Cleft palate | Coarse facial features | Coxa vara | Delayed calcaneal ossification | Delayed pubic bone ossification | Disproportionate short-trunk short stature | Dysplasia of the femoral head | Flat acetabular roof | Flat face | Flattened epiphysis | Generalized hypotonia | Genu valgum | Glossoptosis | Growth delay | Hearing impairment | Hip dislocation | Hypertelorism | Hypoplasia of the odontoid process | Hypotonia | Kyphosis | Laryngotracheomalacia | Limitation of knee mobility | Limited elbow movement | Limited hip movement | Lumbar hyperlordosis | Malar flattening | Micrognathia | Motor delay | Myopia | Neonatal short-trunk short stature | Osteoporosis | Ovoid vertebral bodies | Pectus carinatum | Pierre-Robin sequence | Platyspondyly | Reduced bone mineral density | Respiratory distress | Restrictive ventilatory defect | Retinal detachment | Scoliosis | Short femoral neck | Short femur | Short long bone | Short neck | Small epiphyses | Spinal cord compression | Spinal rigidity | Spondyloepiphyseal dysplasia | Talipes equinovarus | Upper limb undergrowth | Vitreoretinopathy | Waddling gait" ], "symptoms_ja_list": [ "Pierre-Robin シークェンス | はと胸 | よたつき歩行 | 上肢成長不全 | 不均衡性短躯低身長 | 両眼隔離 | 二分した口蓋垂 | 側弯 | 全身性筋緊張低下 | 内反尖足 | 内反股 | 卵形椎体骨 | 口蓋裂 | 呼吸窮迫 | 喉頭気管軟化症 | 外反膝 | 大腿骨頭異形成 | 小さい骨端 | 小顎 | 常染色体顕性遺伝 | 平坦な寛骨臼蓋 | 平坦な頬 | 平坦な顔 | 平坦な骨端 | 後弯 | 恥骨骨化遅延 | 成長遅滞 | 扁平脊椎 | 拘束性肺疾患 | 新生児短躯低身長 | 樽状胸 | 機能的呼吸異常 | 歯状突起低形成 | 環軸椎不安定 | 短い大腿骨 | 短い大腿骨頸部 | 短い長管骨 | 短い頸部 | 硝子体網膜移乗 | 筋緊張低下 | 粗な顔貌 | 網膜剥離 | 肘運動制限 | 股関節脱臼 | 股関節運動制限 | 背部痛 | 脊椎強直 | 脊椎骨端異形成 | 脊椎骨骨化異常 | 脊髄圧迫 | 腰椎前弯 hyperlordosis | 膝運動制限 | 舌根沈下 | 足の異常 | 踵骨骨化遅延 | 近視 | 運動発達遅滞 | 関節痛 | 難聴 | 頚椎不安定 | 頚髄ミエロパチー | 骨ミネラル濃度減少 | 骨粗鬆症" ] }, { "id": "NANDO:2100048", "label_en": "Supraventricular tachycardia", "label_ja": "上室頻拍", "yomigana": "じょうしつひんぱく", "url": "http://nanbyodata.jp/ontology/NANDO_2100048", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201407", "label_en": "Epilepsy with myoclonic-atonic seizures", "label_ja": "ミオクロニー脱力発作を伴うてんかん", "yomigana": "みおくろにーだつりょくほっさをともなうてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_2201407", "notificationNumber": "78", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200836", "label_en": "Congenital hypomyelinating leukodystrophy", "label_ja": "先天性大脳白質形成不全症", "yomigana": "せんてんせいだいのうはくしつけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200836", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100257", "label_en": "Polyposis", "label_ja": "ポリポーシス", "yomigana": "ぽりぽーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2100257", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100253", "label_en": "Chronic digestive disease", "label_ja": "慢性消化器疾患", "yomigana": "まんせいしょうかきしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100253", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201508", "label_en": "Non-dystrophic myotonia", "label_ja": "非ジストロフィー性ミオトニー症候群", "yomigana": "ひじすとろふぃーせいみおとにーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201508", "notificationNumber": "98", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100306", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200798", "label_en": "obsolete Factor I deficiency", "label_ja": "obsolete Factor I 欠損症", "yomigana": "ふぁくたーあいけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200798", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200238", "label_en": "Chronic pericarditis", "label_ja": "慢性心膜炎", "yomigana": "まんせいしんまくえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200238", "notificationNumber": "94", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100063", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200236", "label_en": "Cardiac tumor", "label_ja": "心臓腫瘍", "yomigana": "しんぞうしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200236", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100061", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200074", "label_en": "Krabbe disease", "label_ja": "クラッベ病", "yomigana": "くらっべびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200074", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal flash visual evoked potentials | Abnormal thumb morphology | Abnormality of metabolism/homeostasis | Abnormality of peripheral nerve conduction | Aplasia/Hypoplasia of the abdominal wall musculature | Ataxia | Atypical behavior | Autoimmune thrombocytopenia | Autosomal recessive inheritance | Axial hypotonia | Blindness | CNS demyelination | Childhood onset | Cloverleaf skull | Clumsiness | Decreased nerve conduction velocity | Developmental regression | Diffuse cerebral atrophy | EEG abnormality | EMG abnormality | Erectile dysfunction | Failure to thrive | Feeding difficulties | Fever | Frequent falls | Gait disturbance | Generalized myoclonic seizure | Global developmental delay | Hand clenching | Hearing impairment | Hemiplegia/hemiparesis | Hydrocephalus | Hyperactive deep tendon reflexes | Hyperesthesia | Hypertonia | Hyporeflexia | Hypotonia | Increased CSF protein concentration | Infantile onset | Irritability | Motor deterioration | Muscle weakness | Myoclonus | Neurodegeneration | Nystagmus | Opisthotonus | Optic atrophy | Peripheral demyelination | Peripheral neuropathy | Pes cavus | Poor head control | Progressive spasticity | Recurrent fever | Recurrent respiratory infections | Respiratory failure | Seizure | Sensorimotor neuropathy | Sensorineural hearing impairment | Sensory neuropathy | Spastic paraparesis | Spasticity | Tetraplegia | Urinary incontinence | Visual impairment | Vomiting | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "びまん性大脳萎縮 | クローバー型頭蓋骨 | フラッシュ視覚誘発電位の異常 | ミオクローヌス | 不器用 | 中枢神経脱髄 | 代謝/ホメオスターシスの異常 | 体幹の筋緊張低下 | 体重喪失 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 凹足 | 勃起異常 | 反射低下 | 反復性呼吸器感染症 | 呼吸不全 | 嘔吐 | 四肢麻痺 | 常染色体潜性遺伝 | 後弓反張 | 感覚ニューロパチー | 感覚運動ニューロパチー | 感音難聴 | 成長障害 (成長不全) | 握り手 | 末梢神経ニューロパチー | 末梢神経伝導の異常 | 末梢神経脱髄 | 歩行障害 | 母指の異常 | 水頭症 | 深部腱反射亢進 | 片麻痺/片側不全麻痺 | 痙性 | 痙性対不全麻痺 | 発作 | 発熱 | 発熱エピソード | 発達退行 | 盲 | 眼振 | 知覚過敏 | 神経変性 | 神経活動電位の振幅減少 | 筋緊張亢進 | 筋緊張低下 | 筋虚弱 | 筋電図異常 | 脳波異常 | 腹壁筋無形成/低形成 | 自己免疫性血小板減少 | 行動異常 | 被刺激性 | 視力障害 | 視神経萎縮 | 進行性痙性 | 運動失調 | 運動発達悪化 | 遺尿 | 難聴 | 頸定不全 | 頻回の転倒 | 食餌摂取障害 | 髄液タンパクの増加" ] }, { "id": "NANDO:2200776", "label_en": "Inherited deficiency of complement system", "label_ja": "先天性補体欠損症", "yomigana": "せんてんせいほたいけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200776", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200613", "label_en": "Superficial epidermolytic ichthyosis", "label_ja": "表在性表皮融解性魚鱗癬", "yomigana": "ひょうざいせいひょうひゆうかいせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200613", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Acantholysis | Autosomal dominant inheritance | Congenital bullous ichthyosiform erythroderma | Edema | Erythema | Ichthyosis | Palmoplantar keratoderma | Thin skin" ], "symptoms_ja_list": [ "先天性水泡性魚鱗癬型紅皮症 | 常染色体顕性遺伝 | 掌蹠角皮症 | 有棘細胞解離 | 浮腫 | 異常な皮膚水泡 | 紅斑 | 薄い皮膚 | 魚鱗癬" ] }, { "id": "NANDO:2201030", "label_en": "Klippel-Trenaunay-Weber syndrome", "label_ja": "クリッペル・トレノネー・ウェーバー症候群", "yomigana": "くりっぺる・とれのねー・うぇーばーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201030", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [ "Abnormal skeletal morphology | Abnormal skull morphology | Abnormal tricuspid valve morphology | Abnormality of blood and blood-forming tissues | Abnormality of the menstrual cycle | Abnormality of the pulmonary artery | Arteriovenous fistula | Ascites | Atrial septal defect | Cellulitis | Congestive heart failure | Edema | Finger aplasia | Gastrointestinal hemorrhage | Glaucoma | Hand polydactyly | Hemangioma | Hematuria | Hemihypertrophy | Hepatomegaly | Hydrops fetalis | Hypercoagulability | Hyperpigmented nevi and streak | Intellectual disability | Internal hemorrhage | Lower limb asymmetry | Lymphangioma | Lymphedema | Macrocephaly | Macrodactyly | Microcephaly | Microcytic anemia | Patent ductus arteriosus | Peripheral arteriovenous fistula | Prolonged bleeding time | Pulmonary embolism | Respiratory insufficiency | Seizure | Sporadic | Syndactyly | Tall stature | Upper limb asymmetry | Venous insufficiency | Venous thrombosis" ], "symptoms_ja_list": [ "うっ血性心不全 | リンパ性浮腫 | リンパ管腫 | 三尖弁の異常 | 上肢非対称 | 下肢非対称 | 内出血 | 凝固促進 | 動脈管開存症 | 動静脈瘻 | 合指趾症 | 呼吸不全 | 多指症 | 大頭 | 孤発性 | 小球性貧血 | 小頭 | 巨指趾 | 心房中隔欠損 | 指無形成 | 月経周期異常 | 末梢動静脈瘻 | 浮腫 | 片側肥大 | 発作 | 知的障害 | 緑内障 | 肝腫 | 肺動脈の異常 | 肺塞栓症 | 胃腸出血 | 胎児水腫 | 腹水 | 色素沈着性母斑と線状 | 蜂巣織炎 | 血尿 | 血液および血液痙性組織の異常 | 血管腫 | 遷出血時間遷延 | 静脈不全 | 静脈血栓症 | 頭蓋骨の異常 | 骨格形態の異常 | 高身長" ] }, { "id": "NANDO:2200631", "label_en": "Hereditary pyropoikilocytosis", "label_ja": "遺伝性熱変形赤血球症", "yomigana": "いでんせいねつへんけいせっけっきゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200631", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [ "Autosomal recessive inheritance | Elliptocytosis | Hemolytic anemia | Microspherocytosis | Pyropoikilocytosis" ], "symptoms_ja_list": [ "小球状赤血球症 | 常染色体潜性遺伝 | 楕円赤血球症 | 溶血性貧血 | 熱変形赤血球症" ] }, { "id": "NANDO:2200949", "label_en": "Giant hepatic hemangiomas", "label_ja": "肝巨大血管腫", "yomigana": "かんきょだいけっかんしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200949", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100276", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200096", "label_en": "Ganglioglioma", "label_ja": "神経節膠腫", "yomigana": "しんけいせつこうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200096", "notificationNumber": "56", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201011", "label_en": "Limited cutaneous systemic sclerosis", "label_ja": "限局皮膚硬化型全身性強皮症", "yomigana": "げんきょくひふこうかがたぜんしんせいきょうひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201011", "notificationNumber": "51", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal skin pigmentation | Abnormality of the skin | Autoimmunity | Dysphagia | Foot joint contracture | Gastroesophageal reflux | Hypopigmented skin patches | Joint contracture of the hand | Mucosal telangiectasiae | Narrow foramen obturatorium | Nausea and vomiting | Pulmonary arterial hypertension | Pulmonary fibrosis | Skin ulcer | Telangiectasia of the skin" ], "symptoms_ja_list": [ "低色素性皮膚斑 | 吐気と 嘔吐 | 嚥下障害 | 手関節拘縮 | 狭い閉鎖孔 | 皮膚の異常 | 皮膚毛細血管拡張 | 皮膚潰瘍 | 皮膚色素の異常 | 粘膜の毛細血管拡張 | 肺線維症 | 肺高血圧 | 胃食道逆流 | 自己免疫 | 足関節の拘縮" ] }, { "id": "NANDO:1200619", "label_en": "obsolete Netherton syndrome", "label_ja": "obsolete ネザートン症候群", "yomigana": "ねざーとんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200619", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100033", "label_en": "Interstitial pneumonia", "label_ja": "間質性肺疾患", "yomigana": "かんしつせいはいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100033", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200179", "label_en": "Mitochondrial diseases with proven biochemical abnormality", "label_ja": "生化学的異常が明らかになったミトコンドリア病", "yomigana": "せいかがくてきいじょうがあきらかになったみとこんどりあびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200179", "notificationNumber": "21", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100177", "label_en": "Pure red cell aplasia", "label_ja": "赤芽球癆", "yomigana": "せきがきゅうろう", "url": "http://nanbyodata.jp/ontology/NANDO_2100177", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200186", "label_en": "Atrophic kidney", "label_ja": "萎縮腎", "yomigana": "いしゅくじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200186", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100026", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200462", "label_en": "CFC Syndrome", "label_ja": "CFC症候群", "yomigana": "しーえふしーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200462", "notificationNumber": "103", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal eyelash morphology | Abnormal heart valve morphology | Abnormal speech pattern | Abnormality of the eye | Abnormality of the gastrointestinal tract | Abnormality of vision | Anteverted nares | Aplasia/Hypoplasia of the eyebrow | Atrial septal defect | Biparietal narrowing | Brittle hair | Cavernous hemangioma | Cerebral cortical atrophy | Coarse facial features | Cryptorchidism | Cubitus valgus | Deep palmar crease | Depressed nasal bridge | Downslanted palpebral fissures | Dry skin | Dysarthria | Dystrophic fingernails | EEG abnormality | Epicanthus | Excessive wrinkled skin | Failure to thrive in infancy | Feeding difficulties in infancy | Fine hair | Frontal bossing | Full cheeks | Functional abnormality of the gastrointestinal tract | Generalized hyperpigmentation | Genu valgum | Global developmental delay | High forehead | High palate | Hydrocephalus | Hydronephrosis | Hyperextensible skin | Hyperkeratosis | Hypertelorism | Hypertrophic cardiomyopathy | Hypoplasia of the zygomatic bone | Hypotonia | Ichthyosis | Intellectual disability | Long face | Long palpebral fissure | Long philtrum | Low posterior hairline | Lymphedema | Macrocephaly | Macrotia | Multiple cafe-au-lait spots | Multiple lentigines | Myopia | Nystagmus | Optic atrophy | Palmoplantar keratoderma | Pectus excavatum | Posteriorly rotated ears | Premature birth | Ptosis | Pulmonic stenosis | Redundant skin | Scoliosis | Short neck | Short nose | Short stature | Slow-growing hair | Sparse hair | Sparse or absent eyelashes | Strabismus | Submucous cleft hard palate | Thickened helices | Underdeveloped supraorbital ridges | Webbed neck" ], "symptoms_ja_list": [ "リンパ性浮腫 | 上向きの鼻孔 | 両眼隔離 | 両頭頂径狭小 | 乳児期の成長障害 (成長不全) | 乾いた皮膚 | 低身長 | 停留精巣 | 側弯 | 全般性発達遅滞 | 全身性高色素 | 内眼角贅皮 | 分厚い耳輪 | 前頭突出", "額突出 | 外反肘 | 外反膝 | 多発性カフェオーレ斑 | 多発性黒子 | 大きな頬 | 大耳 | 大脳皮質萎縮 | 大頭 | 後部毛髪線低位 | 循環器系の形態異常 | 心弁の異常 | 心房中隔欠損 | 成長の遅い毛髪 | 指爪ジストロフィー | 掌蹠角皮症 | 斜視 | 早産 | 構音障害 | 水腎症 | 水頭症 | 海綿状血管腫 | 深い手掌屈曲線 | 漏斗胸 | 疎な/欠損した睫毛 | 疎な毛髪 | 眉毛の無形成/低形成 | 眼の異常 | 眼振 | 眼瞼下垂 | 眼瞼裂斜下 | 眼窩上縁未発達 | 睫毛の異常 | 知的障害 | 短い頸部 | 短い鼻 | 神経学的発語障害 | 筋緊張低下 | 粗な顔貌 | 粘膜下硬口蓋裂 | 細い毛髪 | 翼状頚 | 耳介後方回転 | 肥大型心筋症 | 肺動脈狭窄 | 胃腸管の異常 | 胃腸管機能異常 | 脆い毛髪 | 脳波異常 | 落ちくぼんだ鼻梁 | 視神経萎縮 | 視覚の異常 | 近視 | 過伸展皮膚 | 過剰な皮膚 | 過剰な皺の多い皮膚 | 過角化症 | 長い人中 | 長い眼瞼裂 | 長い顔 | 頬骨未発達 | 食餌摂取障害 in infancy | 高い額 | 高口蓋 | 魚鱗癬" ] }, { "id": "NANDO:1201122", "label_en": "AH amyloidosis", "label_ja": "AH アミロイド－シス ", "yomigana": "えーえいちあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201122", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Amyloidosis of peripheral nerves | Goiter | Nephropathy | Peripheral neuropathy | Renal amyloidosis" ], "symptoms_ja_list": [ "末梢神経アミロイドーシス | 末梢神経ニューロパチー | 甲状腺腫 | 腎アミロイド症 | 腎症" ] }, { "id": "NANDO:1200641", "label_en": "Non-syndromic oculocutaneous albinism", "label_ja": "非症候型眼皮膚白皮症", "yomigana": "ひしょうこうがたがんひふはくひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200641", "notificationNumber": "164", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200997", "label_en": "Dorfman-Chanarin syndrome", "label_ja": "ドルフマン・シャナリン症候群", "yomigana": "どるふまん・しゃなりんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200997", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [ "Abnormal granulocyte morphology | Abnormality of blood and blood-forming tissues | Alopecia | Areflexia | Ataxia | Autosomal recessive inheritance | Cardiomyopathy | Central nervous system degeneration | Congenital nonbullous ichthyosiform erythroderma | EMG: myopathic abnormalities | Eclabion | Ectropion | Elevated circulating hepatic transaminase concentration | Everted lower lip vermilion | Gait disturbance | Global developmental delay | Hepatic steatosis | Hepatomegaly | Hypertriglyceridemia | Increased CSF protein concentration | Increased intramyocellular lipid droplets | Intellectual disability | Ketosis | Micronodular cirrhosis | Microtia | Muscle weakness | Myopathy | Nystagmus | Obesity | Progressive proximal muscle weakness | Ptosis | Sensorineural hearing impairment | Short stature | Shoulder girdle muscle weakness | Small earlobe | Strabismus | Subcapsular cataract" ], "symptoms_ja_list": [ "ケトン症 | ミオパチー | 下口唇唇紅部外反 | 中枢神経変性 | 低身長 | 先天性非水泡性魚鱗癬型紅皮症 | 全般性発達遅滞 | 口唇外反 | 嚢下白内障 | 外反(眼瞼) | 小さい耳朶 | 小結節性肝硬変 | 小耳 | 常染色体潜性遺伝 | 心筋症 | 感音難聴 | 斜視 | 歩行障害 | 無反射 | 眼振 | 眼瞼下垂 | 知的障害 | 禿頭 | 筋細胞内脂肪滴増加 | 筋虚弱 | 筋電図: ミオパチー異常 | 肝トランスアミナーゼ上昇 | 肝腫 | 肥満 | 肩帯筋虚弱 | 脂肪肝 | 血液および血液痙性組織の異常 | 進行性近位筋虚弱 | 運動失調 | 顆粒球の異常 | 髄液タンパクの増加 | 高トリグリセリド血症" ] }, { "id": "NANDO:2200244", "label_en": "Other anomalous origin of coronary artery", "label_ja": "29及び30に掲げるもののほか、冠動脈起始異常", "yomigana": "29および30にかかげるもののほか、かんどうみゃくきしいじょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200244", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100067", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200333", "label_en": "Congenital hypothyroidism", "label_ja": "先天性甲状腺機能低下症", "yomigana": "せんてんせいこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200333", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200508", "label_en": "Asymptomatic syringomyelia", "label_ja": "無症候性脊髄空洞症", "yomigana": "むしょうこうせいせきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200508", "notificationNumber": "117", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200791", "label_en": "Maple syrup urine disease", "label_ja": "メープルシロップ尿症", "yomigana": "めーぷるしろっぷにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200791", "notificationNumber": "244", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of the pharynx | Abnormality of the voice | Ataxia | Diminished deep tendon reflex | Elevated circulating branched chain amino acid concentration | Global developmental delay | Hemiplegia/hemiparesis | Hypotonia | Intellectual disability | Respiratory insufficiency | Seizure" ], "symptoms_ja_list": [ "全般性発達遅滞 | 呼吸不全 | 咽頭の異常 | 声の異常 | 片麻痺/片側不全麻痺 | 発作 | 知的障害 | 筋緊張低下 | 腱反射減少 | 血漿分子鎖アミノ酸上昇 | 運動失調" ] }, { "id": "NANDO:2201375", "label_en": "Autosomal dominant epidermolysis bullosa simplex", "label_ja": "優性単純型表皮水疱症", "yomigana": "ゆうせいたんじゅんがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201375", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200728", "label_en": "Perforin deficiency", "label_ja": "パーフォリン欠損症", "yomigana": "ぱーふぉりんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200728", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Abnormal natural killer cell physiology | Anemia | Ataxia | Autosomal recessive inheritance | CNS demyelination | CSF pleocytosis | Coma | Decreased total leukocyte count | Edema | Elevated circulating hepatic transaminase concentration | Failure to thrive | Fever | Generalized edema | Generalized hypotonia | Global developmental delay | Hemiplegia | Hemophagocytosis | Hepatomegaly | Hepatosplenomegaly | Hypertonia | Hypertriglyceridemia | Hypoalbuminemia | Hypofibrinogenemia | Hyponatremia | Hypoproteinemia | Hypotonia | Increased CSF protein concentration | Increased circulating ferritin concentration | Increased intracranial pressure | Increased total bilirubin | Infantile onset | Infectious encephalitis | Irritability | Jaundice | Lymphadenopathy | Meningitis | Pancytopenia | Prolonged prothrombin time | Recurrent fever | Seizure | Skin rash | Splenomegaly | Tetraplegia | Thrombocytopenia" ], "symptoms_ja_list": [ "ナチュラルキラー細胞生理の異常 | プロトロンビン時間遷延 | リンパ節腫大 | 中枢神経脱髄 | 低タンパク血症 | 低ナトリウム血症 | 低フィブリノーゲン血症 | 全般性発達遅滞 | 全身性浮腫 | 全身性筋緊張低下 | 四肢麻痺 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 昏睡 | 汎血球減少症 | 浮腫 | 片麻痺 | 発作 | 発熱 | 発熱エピソード | 白血球減少症 | 皮膚発疹 | 筋緊張亢進 | 筋緊張低下 | 総ビリルビン増加 | 肝トランスアミナーゼ上昇 | 肝脾腫 | 肝腫 | 脳炎 | 脾腫 | 血小板減少 | 血液貪食症 | 血清フェリチン増加 | 被刺激性 | 貧血 | 運動失調 | 頭蓋内圧の増加 | 髄液タンパクの増加 | 髄液細胞増症 | 髄膜炎 | 高アルブミン血症 | 高トリグリセリド血症 | 黄疸" ] }, { "id": "NANDO:1201036", "label_en": "Nephronophthisis", "label_ja": "ネフロン癆", "yomigana": "ねふろんろう", "url": "http://nanbyodata.jp/ontology/NANDO_1201036", "notificationNumber": "335", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Abnormal retinal pigmentation | Anemia | Autosomal recessive inheritance | Growth delay | Hypertension | Hyposthenuria | Nephronophthisis | Polydipsia | Polyuria | Renal corticomedullary cysts | Renal insufficiency | Renal tubular atrophy | Stage 5 chronic kidney disease | Tubular basement membrane disintegration | Tubulointerstitial fibrosis" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | ネフロン癆 | 低張尿 | 多尿 | 多飲 | 尿細管基底膜の崩壊 | 尿細管萎縮 | 尿細管間質 線維症 | 常染色体潜性遺伝 | 成長遅滞 | 網膜色素異常 | 腎不全 | 腎皮質髄質嚢胞 | 貧血 | 高血圧" ] }, { "id": "NANDO:2201116", "label_en": "Presymptomatic isovaleric acidemia", "label_ja": "発症前型イソ吉草酸血症", "yomigana": "はっしょうまえがたいそきっそうさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201116", "notificationNumber": "95", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200727", "label_en": "Other diseases of immune dysregulation", "label_ja": "31から33までに掲げるもののほか、免疫調節障害", "yomigana": "31から33までにかかげるもののほか、めんえきちょうせつしょうがい", "url": "http://nanbyodata.jp/ontology/NANDO_2200727", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201107", "label_en": "Methylmalonic aciduria and homocystinuria, cblC type", "label_ja": "コバラミン代謝異常 cblC", "yomigana": "こばらみんたいしゃいじょう しーびーえるしー", "url": "http://nanbyodata.jp/ontology/NANDO_2201107", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormal brain morphology | Abnormal facial shape | Abnormal heart morphology | Abnormal macular pigmentation | Abnormal speech pattern | Abnormality of extrapyramidal motor function | Abnormality of the nervous system | Acute kidney injury | Ataxia | Atrophy of the spinal cord | Atypical behavior | Auditory hallucination | Autosomal recessive inheritance | Axial hypotonia | Bradycardia | Cardiac arrest | Cerebral atrophy | Cerebral cortical atrophy | Childhood onset | Confusion | Cystathioninemia | Cystathioninuria | Decreased circulating adenosylcobalamin concentration | Decreased circulating methylcobalamin concentration | Decreased methionine synthase activity | Decreased methylmalonyl-CoA mutase activity | Decreased total neutrophil count | Deep venous thrombosis | Dehydration | Dementia | Developmental regression | Dilated cardiomyopathy | Encephalopathy | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Generalized hypotonia | Global developmental delay | Glomerulopathy | Glossitis | Growth delay | Hematuria | Hemolytic-uremic syndrome | Hepatomegaly | High forehead | Homocystinuria | Hydrocephalus | Hydrops fetalis | Hyperammonemia | Hyperhomocystinemia | Hypoglycemia | Hypomethioninemia | Hypotension | Hypothermia | Hypotonia | Infantile onset | Infantile spasms | Intellectual disability | Intrauterine growth retardation | Jaundice | Juvenile onset | Ketonuria | Lethargy | Leukoencephalopathy | Long face | Low-set ears | Macrotia | Macular pseudocoloboma | Megaloblastic anemia | Memory impairment | Mental deterioration | Metabolic acidosis | Methylmalonic acidemia | Methylmalonic aciduria | Microcephaly | Middle age onset | Neonatal onset | Nephropathy | Neurodevelopmental delay | Nystagmus | Optic atrophy | Pallor | Peripheral demyelination | Personality changes | Pigmentary retinopathy | Poor fine motor coordination | Proteinuria | Psychosis | Pulmonary arterial hypertension | Pulmonary embolism | Reduced visual acuity | Renal insufficiency | Respiratory distress | Retinal degeneration | Seizure | Severe demyelination of the white matter | Small for gestational age | Smooth philtrum | Stomatitis | Stroke | Subdural hemorrhage | Tachycardia | Thrombocytopenia | Thromboembolism | Tremor | Visual impairment | Vomiting | Young adult onset" ], "symptoms_ja_list": [ "Dementia | methylmalonyl-CoA mutase 活性の減少 | アデノシルコバラミンの減少 | ケトン尿 | シスタシオニン血症 | シスタチオニン尿 | ホモシスチン尿 | メチオニン合成酵素活性の減少 | メチルコバラミンの減少 | メチルマロン酸尿 | メチルマロン酸血症 | 中心視力減少 | 乳児スパスム | 代謝性アシドーシス | 低メチオニン血症 | 低体温 | 低血圧 | 低血糖 | 体幹の筋緊張低下 | 全般性発達遅滞 | 全身性筋緊張低下 | 卒中 | 口内炎 | 呼吸窮迫 | 嘔吐 | 在胎月齢より小さい児 | 大耳 | 大脳皮質萎縮 | 大脳萎縮 | 好中球減少症 | 子宮内成長遅滞 | 小頭 | 巨赤芽球性貧血 | 常染色体潜性遺伝 | 平坦な人中 | 徐脈 | 微細運動協調不全 | 心停止 | 心形態の異常 | 急性腎外傷 | 性格変化 | 成長遅滞 | 成長障害 (成長不全) | 拡張型心筋症 | 振戦 | 末梢神経脱髄 | 水頭症 | 深部静脈血栓症 | 溶血性尿毒症候群症候群 | 無気力 | 異常な顔の形 | 発作 | 発達退行 | 白質の重度脱髄 | 白質脳症 | 眼振 | 知的障害 | 知能悪化 | 硬膜下出血 | 神経学的発語障害 | 神経発生遅延 | 神経系の異常 | 筋緊張低下 | 精神病 | 糸球体症 | 網膜変性 | 耳介低位 | 聴覚幻覚 | 肝腫 | 肺塞栓症 | 肺高血圧 | 胎児水腫 | 脊髄萎縮 | 脱水 | 脳形態の異常 | 脳症 | 腎不全 | 腎症 | 舌炎 | 色素性網膜症 | 蒼白 | 蛋白尿 | 血小板減少 | 血尿 | 血栓塞栓症 | 行動異常 | 視力障害 | 視神経萎縮 | 記憶障害 | 運動失調 | 錐体外路運動機能の異常 | 錯乱 | 長い顔 | 頻拍 | 食餌摂取障害 | 食餌摂取障害 in infancy | 高い額 | 高アンモニア血症 | 高ホモシスチン血症 | 黄斑コロボーマ | 黄斑色素の異常 | 黄疸" ] }, { "id": "NANDO:1200469", "label_en": "Juvenile idiopathic arthritis", "label_ja": "若年性特発性関節炎", "yomigana": "じゃくねんせいとくはつせいかんせつえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200469", "notificationNumber": "107", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201512", "label_en": "Paramyotonia congenita", "label_ja": "先天性パラミオトニー", "yomigana": "せんてんせいぱらみおとにー", "url": "http://nanbyodata.jp/ontology/NANDO_2201512", "notificationNumber": "98", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100306", "symptoms_en_list": [ "Abnormal circulating potassium concentration | Autosomal dominant inheritance | Cold-sensitive myotonia | Dysphagia | EMG: myopathic abnormalities | Facial muscle hypertrophy | Feeding difficulties | Handgrip myotonia | Infantile onset | Inspiratory stridor | Muscle stiffness | Muscle weakness | Myalgia | Myotonia | Myotonia of the face | Myotonia of the jaw | Myotonia of the upper limb | Neonatal hypotonia | Neonatal inspiratory stridor | Paradoxical myotonia | Percussion myotonia | Periodic hypokalemic paresis | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "カリウムホメオスターシスの異常 | ミオトニア | 上肢ミオトニア | 下顎ミオトニア | 叩打性ミオトニア | 吸気性喘鳴 | 周期性低カルシウム血症性不全麻痺 | 嚥下障害 | 寒冷感受性筋緊張亢進 | 常染色体顕性遺伝 | 握手ミオトニア | 新生児吸気性喘鳴 | 新生児筋緊張低下 | 筋痛 | 筋硬直 | 筋肥大 | 筋虚弱 | 筋電図: ミオパチー異常 | 逆説的ミオトニア | 顔ミオトニア | 顔面筋肥大 | 食餌摂取障害" ] }, { "id": "NANDO:1200366", "label_en": "IgA nephropathy", "label_ja": "IgA腎症", "yomigana": "あいじーえーじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200366", "notificationNumber": "66", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Acute kidney injury | Ascites | Celiac disease | Cirrhosis | Facial edema | Glomerulonephritis | Hypertension | IgA deposition in the glomerulus | Increased circulating IgA concentration | Macroscopic hematuria | Microscopic hematuria | Mild proteinuria | Nephrotic range proteinuria | Renal insufficiency" ], "symptoms_ja_list": [ "IgA 値増加 | IgA 沈着 (糸球体) | セリアック秒 | ネフローゼ範囲の蛋白尿 | 急性腎外傷 | 糸球体腎炎 | 肉眼的血尿 | 肝硬変 | 腎不全 | 腹水 | 軽度の蛋白尿 | 顔面浮腫 | 顕微血尿 | 高血圧" ] }, { "id": "NANDO:2200860", "label_en": "Fukuyama type congenital muscular dystrophy", "label_ja": "福山型先天性筋ジストロフィー", "yomigana": "ふくやまがたせんてんせいきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200860", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [ "Abnormality of eye movement | Agenesis of corpus callosum | Aplasia/Hypoplasia of the corpus callosum | Areflexia | Atrial septal defect | Autosomal recessive inheritance | Brachycephaly | Calf muscle hypertrophy | Camptodactyly of finger | Cataract | Cerebellar cyst | Cerebellar hypoplasia | Delayed speech and language development | Dilated cardiomyopathy | Dolichocephaly | EEG abnormality | EMG abnormality | Elevated circulating creatine kinase activity | Encephalocele | Exaggerated startle response | Flexion contracture | Gait disturbance | Generalized hypotonia | Glaucoma | Global developmental delay | Holoprosencephaly | Hydrocephalus | Hypermetropia | Hypoplasia of the brainstem | Hypoplasia of the pyramidal tract | Hypotonia | Infantile onset | Intellectual disability | Intrauterine growth retardation | Lissencephaly | Mask-like facies | Microphthalmia | Muscle weakness | Muscular dystrophy | Myocardial fibrosis | Myopathy | Myopia | Optic atrophy | Pachygyria | Pectus excavatum | Plagiocephaly | Polymicrogyria | Pulmonic stenosis | Respiratory insufficiency | Retinal detachment | Retinal dysplasia | Scoliosis | Seizure | Severe intellectual disability | Skeletal muscle atrophy | Spinal rigidity | Strabismus | Transposition of the great arteries | Type II lissencephaly | Ventriculomegaly | Visual impairment | Weak cry" ], "symptoms_ja_list": [ "II型滑脳症 | ミオパチー | 仮面様顔貌 | 側弯 | 全前脳胞症 | 全般性発達遅滞 | 全身性筋緊張低下 | 呼吸不全 | 多小脳回 | 大血管転位 | 子宮内成長遅滞 | 小眼球 | 小脳低形成 | 小脳嚢胞 | 屈指 | 屈曲拘縮 | 常染色体潜性遺伝 | 弱い泣き声 | 心房中隔欠損 | 心筋線維症 | 拡張型心筋症 | 斜視 | 斜頭 | 歩行障害 | 水頭症 | 滑脳症 | 漏斗胸 | 無反射 | 発作 | 発語および言語発達遅延 | 白内障 | 眼運動の異常 | 知的障害 | 知的障害", "重度 | 短頭 | 筋ジストロフィー | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 筋電図異常 | 網膜剥離 | 網膜異形成 | 緑内障 | 肺動脈狭窄 | 脊椎強直 | 脳回肥厚 | 脳室拡大 | 脳幹低形成 | 脳梁無形成/低形成 | 脳梁無発生 of | 脳波異常 | 脳瘤 | 腓腹筋肥大 | 血清 creatine phosphokinase上昇 | 視力障害 | 視神経萎縮 | 誇張された驚愕反応 | 近視 | 遠視 | 錐体路低形成 | 長頭" ] }, { "id": "NANDO:2100037", "label_en": "Idiopathic pulmonary hemosiderosis", "label_ja": "特発性肺ヘモジデローシス", "yomigana": "とくはつせいはいへもじでろーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2100037", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200850", "label_en": "Hepatic glycogen storage disease type IV", "label_ja": "肝型糖原病IV型", "yomigana": "かんがたとうげんびょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200850", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal muscle glycogen content | Arthrogryposis multiplex congenita | Ascites | Autosomal recessive inheritance | Bradycardia | Cardiomyopathy | Cirrhosis | Congestive heart failure | Decreased fetal movement | Decreased liver function | Dilated cardiomyopathy | Diminished deep tendon reflex | Edema | Elevated circulating hepatic transaminase concentration | Esophageal varix | Failure to thrive | Fetal akinesia sequence | Flexion contracture | Generalized abnormality of skin | Generalized hypotonia | Hepatic failure | Hepatomegaly | Hepatosplenomegaly | Hydrops fetalis | Hypoalbuminemia | Hyporeflexia | Hypotonia | Motor delay | Muscle weakness | Myopathy | Nonimmune hydrops fetalis | Polyhydramnios | Portal hypertension | Prolonged partial thromboplastin time | Prolonged prothrombin time | Respiratory distress | Respiratory insufficiency | Severe muscular hypotonia | Skeletal muscle atrophy | Talipes equinovarus | Tubulointerstitial fibrosis" ], "symptoms_ja_list": [ "うっ血性心不全 | プロトロンビン時間遷延 | ミオパチー | 先天性多発性関節拘縮 | 全身性皮膚異常 | 全身性筋緊張低下 | 内反尖足 | 反射低下 | 呼吸不全 | 呼吸窮迫 | 尿細管間質 線維症 | 屈曲拘縮 | 常染色体潜性遺伝 | 徐脈 | 心筋症 | 成長障害 (成長不全) | 拡張型心筋症 | 浮腫 | 異常な筋グリコーゲン量 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 羊水過多 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝機能低下 | 肝硬変 | 肝脾腫 | 肝腫 | 胎児水腫 | 胎児無動シークェンス | 胎動減少 | 腱反射減少 | 腹水 | 運動発達遅滞 | 部分的トロンボプラスチン時間遷延 | 重度筋緊張低下 | 門脈圧亢進 | 非免疫性胎児水腫 | 食道静脈瘤 | 高アルブミン血症" ] }, { "id": "NANDO:2200242", "label_en": "Abnormal origin of left coronary artery from pulmonary artery", "label_ja": "左冠動脈肺動脈起始症", "yomigana": "ひだりかんどうみゃくはいどうみゃくきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200242", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100067", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201057", "label_en": "Rheumatoid factor-negative juvenile idiopathic arthritis", "label_ja": "若年性特発性関節炎（リウマトイド因子陰性多関節炎）", "yomigana": "じゃくねんせいとくはつせいかんせつえん（りうまといどいんしいんせいたかんせつえん）", "url": "http://nanbyodata.jp/ontology/NANDO_2201057", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201107", "label_en": "Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy", "label_ja": "LMNB1 関連大脳白質脳症", "yomigana": "えるえむえぬびー1かんれんだいのうはくしつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201107", "notificationNumber": "342", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal auditory evoked potentials | Abnormal autonomic nervous system physiology | Abnormal cerebellar peduncle morphology | Abnormal pyramidal sign | Abnormality of eye movement | Abnormality of somatosensory evoked potentials | Action tremor | Anhidrosis | Aplasia/Hypoplasia of the cerebellum | Aplasia/Hypoplasia of the corpus callosum | Aspiration pneumonia | Ataxia | Atrophy of the spinal cord | Atrophy/Degeneration affecting the brainstem | Atrophy/Degeneration affecting the cerebrum | Atypical behavior | Autonomic bladder dysfunction | Babinski sign | Clonus | Cognitive impairment | Constipation | Decreased sweating due to autonomic dysfunction | Dementia | Distal sensory impairment | Dysarthria | Dysdiadochokinesis | Dysmetria | Dysphagia | EEG with generalized slow activity | Erectile dysfunction | Flexion contracture | Functional motor deficit | Gait ataxia | Gait disturbance | Head titubation | Hyperreflexia | Hypertonia | Hypothermia | Impaired distal vibration sensation | Impaired proprioception | Impotence | Increased CSF protein concentration | Intention tremor | Malnutrition | Muscle weakness | Myalgia | Nystagmus | Orthostatic hypotension | Pseudobulbar signs | Recurrent urinary tract infections | Sensorineural hearing impairment | Spastic gait | Spasticity | Temperature instability | Tetraparesis | Tremor | Upper limb postural tremor | Upper motor neuron dysfunction | Urinary retention | Urinary urgency" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | インポテンス | クローヌス | 上肢姿勢性振戦 | 企図振戦 | 低体温 | 体温不安定 | 作動振戦 | 便秘 | 偽性球麻痺サイン | 全般性徐活動を伴う脳波 | 勃起異常 | 反射亢進 | 反復性尿路感染症 | 嚥下障害 | 四肢不全麻痺 | 固有覚障害 | 大脳萎縮/変性 | 小脳無形成/低形成 | 小脳脚の異常 | 尿意切迫 | 尿閉 | 屈曲拘縮 | 感音難聴 | 手揺動 | 拮抗運動反復不全 | 振戦 | 栄養失調 | 構音障害 | 機能的筋異常 | 歩行失調 | 歩行障害 | 測定障害 | 無汗症 | 異常な聴性誘発反応 | 異常な自律神経生理 | 痙性 | 痙性歩行 | 皮質脊髄路機能障害 | 眼振 | 眼運動の異常 | 筋痛 | 筋緊張亢進 | 筋虚弱 | 脊髄萎縮 | 脳幹萎縮/変性 | 脳梁無形成/低形成 | 自律神経性機能障害による発汗減少 | 自律神経性膀胱機能障害 | 行動異常 | 認知障害 | 誤嚥性肺炎 | 起立性低血圧 | 身体感覚誘発電位の異常 | 運動失調 | 遠位感覚障害 | 遠位振動覚障害 | 錐体路運動機能の異常 | 髄液タンパクの増加" ] }, { "id": "NANDO:1201079", "label_en": "Periventricular nodular heterotopia", "label_ja": "脳室周囲結節状異所性灰白質", "yomigana": "のうしつしゅういけっせつじょういしょせいはいはくしつ", "url": "http://nanbyodata.jp/ontology/NANDO_1201079", "notificationNumber": "138", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal bleeding | Abnormal heart valve morphology | Abnormal nervous system morphology | Aortic aneurysm | Aortic regurgitation | Focal-onset seizure | Gastroesophageal reflux | Hernia | Joint hypermobility | Patellar dislocation | Patent ductus arteriosus | Periventricular heterotopia | Pyloric stenosis | Scoliosis | Shoulder dislocation | Thin skin" ], "symptoms_ja_list": [ "ヘルニア | 側弯 | 動脈管開存症 | 大動脈瘤 | 大動脈逆流 | 幽門狭窄 | 心弁の異常 | 焦点性発作 | 異常な出血 | 神経系形態の異常 | 肩脱臼 | 胃食道逆流 | 脳室周囲異所性灰白質 | 膝蓋骨脱臼 | 薄い皮膚 | 関節過動" ] }, { "id": "NANDO:2201202", "label_en": "Metachromatic leukodystrophy, late infantile form", "label_ja": "後期乳児型異染性白質ジストロフィー", "yomigana": "こうきにゅうじがたいせんせいはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201202", "notificationNumber": "112", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abdominal distention | Abnormal social behavior | Abnormality of metabolism/homeostasis | Abnormality of visual evoked potentials | Babinski sign | Bilateral sensorineural hearing impairment | Cholecystitis | Clumsiness | Decreased nerve conduction velocity | Delusion | Developmental regression | Dysarthria | Dystonia | EMG: chronic denervation signs | Emotional lability | Feeding difficulties in infancy | Frequent falls | Gait ataxia | Generalized hypotonia | Hallucinations | Hyporeflexia | Increased CSF protein concentration | Leukodystrophy | Loss of speech | Muscle weakness | Optic atrophy | Progressive gait ataxia | Progressive peripheral neuropathy | Reduced visual acuity | Seizure | Spasticity | Urinary incontinence" ], "symptoms_ja_list": [ "Babinski サイン | ジストニア | ロイコジストロフィー | 不器用 | 両側性感音難聴 | 中心視力減少 | 代謝/ホメオスターシスの異常 | 全身性筋緊張低下 | 反射低下 | 妄想 | 幻覚 | 情動不安定 | 構音障害 | 歩行失調 | 異常な社会的行動 | 痙性 | 発作 | 発語喪失 | 発達退行 | 神経活動電位の振幅減少 | 筋虚弱 | 筋電図: 慢性変性サイン | 胆嚢炎 | 腹部膨満 | 視神経萎縮 | 視覚誘発電位の異常 | 進行性末梢神経ニューロパチー | 進行性歩行失調 | 遺尿 | 頻回の転倒 | 食餌摂取障害 in infancy | 髄液タンパクの増加" ] }, { "id": "NANDO:2201104", "label_en": "Methylmalonic acidemia, chronic progressive form", "label_ja": "慢性進行型メチルマロン酸血症", "yomigana": "まんせいしんこうがためちるまろんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201104", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200623", "label_en": "Hereditary stomatocytosis", "label_ja": "口唇赤血球症", "yomigana": "こうしんせっけっきゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200623", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200267", "label_en": "Atrial septal defect, sinus venosus type", "label_ja": "静脈洞型心房中隔欠損症", "yomigana": "じょうみゃくどうがたしんぼうちゅうかくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200267", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100085", "symptoms_en_list": [ "Airway obstruction | Anomalous pulmonary venous return | Atrial arrhythmia | Atrial fibrillation | Atrial flutter | Automatic atrial tachycardia | Complete right bundle branch block | Congestive heart failure | Dyspnea | Exercise intolerance | Exertional dyspnea | Fatigue | First degree atrioventricular block | Junctional ectopic tachycardia | Left-to-right shunt | Palpitations | Premature atrial contractions | Pulmonary arterial hypertension | Right ventricular dilatation | Stroke | Supraventricular arrhythmia | Supraventricular tachycardia | Thromboembolism | Tricuspid regurgitation" ], "symptoms_ja_list": [ "1度房室ブロック | うっ血性心不全 | 三尖弁逆流 | 上室性不整脈 | 上室性頻拍 | 動悸 | 卒中 | 原発性心房性不整脈 | 右室拡張 | 右脚ブロック | 呼吸困難 | 左-右シャントunt | 心房粗動 | 心房細動 | 接合部異所性頻拍 | 異所性上室律動 | 疲労 | 肺静脈還流異常 | 肺高血圧 | 自動心房性頻拍 | 血栓塞栓症 | 運動不耐症 | 運動性呼吸困難 | 閉塞性肺疾患" ] }, { "id": "NANDO:2201354", "label_en": "Stickler syndrome type 1", "label_ja": "Stickler症候群1型", "yomigana": "すてぃっくらーしょうこうぐん1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201354", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal epiphysis morphology | Abnormal femoral epiphysis morphology | Abnormal vertebral epiphysis morphology | Abnormal vitreous humor morphology | Anteverted nares | Arachnodactyly | Arthralgia | Arthritis | Arthropathy | Autosomal dominant inheritance | Beaking of vertebral bodies | Bifid uvula | Blindness | Cataract | Cleft palate | Conductive hearing impairment | Depressed nasal bridge | Disproportionate tall stature | Glaucoma | Hypoplasia of the maxilla | Intellectual disability | Irregular femoral epiphysis | Joint hypermobility | Joint stiffness | Kyphosis | Long philtrum | Malar flattening | Micrognathia | Midface retrusion | Mitral valve prolapse | Morbus Scheuermann | Myopia | Osteoarthritis | Pectus excavatum | Pierre-Robin sequence | Platyspondyly | Proptosis | Retinal detachment | Retinal hole | Scoliosis | Sensorineural hearing impairment | Short nose | Skeletal dysplasia | Spondyloepiphyseal dysplasia | Spondylolisthesis | Submucous cleft hard palate | Visual loss | Vitreoretinopathy" ], "symptoms_ja_list": [ "Pierre-Robin シークェンス | Scheuermann 病 | くちばし状椎体骨 | くも指 | 上向きの鼻孔 | 上顎低形成 | 不均衡型高身長 | 不規則な大腿骨骨端 | 二分した口蓋垂 | 伝音難聴 | 側弯 | 僧帽弁逸脱 | 口蓋裂 | 大腿骨骨端の異常 | 小顎 | 常染色体顕性遺伝 | 平坦な頬 | 後弯 | 感音難聴 | 扁平脊椎 | 漏斗胸 | 白内障 | 盲 | 眼球突出 | 知的障害 | 短い鼻 | 硝子体液の異常 | 硝子体網膜移乗 | 粘膜下硬口蓋裂 | 網膜円孔 | 網膜剥離 | 緑内障 | 脊椎すべり症 | 脊椎骨端の異常 | 脊椎骨端異形成 | 落ちくぼんだ鼻梁 | 視力喪失 | 近視 | 長い人中 | 関節拘縮 | 関節炎 | 関節症 | 関節痛 | 関節過動 | 顔面中部後退 | 骨格異形成 | 骨端の異常 | 骨関節炎" ] }, { "id": "NANDO:2200515", "label_en": "Trifunctional protein deficiency", "label_ja": "三頭酵素欠損症", "yomigana": "さんとうこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200515", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Areflexia | Arrhythmia | Babinski sign | Cardiomyopathy | Cholestasis | Chronic hepatic failure | Coma | Congestive heart failure | Decreased patellar reflex | Difficulty climbing stairs | Diffuse hepatic steatosis | Distal peripheral sensory neuropathy | Equinovarus deformity | Equinus calcaneus | Exercise intolerance | Failure to thrive in infancy | Feeding difficulties in infancy | Frequent falls | Generalized muscle weakness | Hypocalcemia | Hypoketotic hypoglycemia | Hypoparathyroidism | Hypotonia | Left ventricular hypertrophy | Lethargy | Lower limb muscle weakness | Mitral regurgitation | Motor delay | Muscle spasm | Muscle weakness | Myalgia | Peripheral neuropathy | Pes cavus | Pigmentary retinopathy | Poor suck | Primitive reflex | Progressive distal muscle weakness | Respiratory failure | Respiratory insufficiency | Rhabdomyolysis | Seizure | Sensorimotor neuropathy | Skeletal myopathy | Tricuspid regurgitation" ], "symptoms_ja_list": [ "Babinski サイン | うっ血性心不全 | びまん性脂肪肝 | 三尖弁逆流 | 下肢筋虚弱 | 不整脈 | 乳児期の成長障害 (成長不全) | 低カルシウム血症 | 低ケトン性低血糖 | 僧帽弁逆流 | 全身性筋虚弱 | 内反尖足変形 | 凹足 | 副甲状腺機能低下症 | 原始反射 (掌頤", "口とがらせ", "眉間) | 吸啜不全 | 呼吸不全 | 左室肥大 | 心筋症 | 感覚運動ニューロパチー | 慢性肝不全 | 昏睡 | 末梢神経ニューロパチー | 横紋筋融解 | 無反射 | 無気力 | 発作 | 筋けいれん | 筋痛 | 筋緊張低下 | 筋虚弱 | 胆汁うっ滞 | 膝蓋腱反射減少 | 色素性網膜症 | 踵骨尖足 | 進行性遠位筋虚弱 | 運動不耐症 | 運動発達遅滞 | 遠位末梢感覚神経ニューロパチー | 階段の登り困難 | 頻回の転倒 | 食餌摂取障害 in infancy | 骨格筋ミオパチー" ] }, { "id": "NANDO:1200035", "label_en": "Multiple system atrophy, cerebellar type", "label_ja": "MSA-C", "yomigana": "えむえすえーしー", "url": "http://nanbyodata.jp/ontology/NANDO_1200035", "notificationNumber": "17", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal brain FDG positron emission tomography | Abnormal pyramidal sign | Abnormal rapid eye movement sleep | Anxiety | Apathy | Autonomic bladder dysfunction | Autonomic erectile dysfunction | Axial dystonia | Bradykinesia | Broad-based gait | Camptocormia | Central sleep apnea | Constipation | Depression | Downbeat nystagmus | Dysarthria | Dysphonia | Frequent falls | Gait ataxia | Gaze-evoked nystagmus | Limb ataxia | Neuromuscular dysphagia | Orofacial dyskinesia | Orthostatic hypotension due to autonomic dysfunction | Orthostatic syncope | Parkinsonism | Postural instability | Postural tremor | Progressive cerebellar ataxia | Resting tremor | Rigidity | Stridor" ], "symptoms_ja_list": [ "うつ | パーキンソン症候群 | 下方眼振 | 不安 | 中枢性睡眠時無呼吸 | 便秘 | 前屈症 | 口顔面ジスキネジア | 喘鳴 | 四肢失調 | 姿勢不安定 | 姿勢性振戦 | 安静時振戦 | 幅広歩行 | 構音障害 | 歩行失調 | 注視誘発性眼振 | 無関心", "感情鈍磨 | 異常な急速眼球運動 (REM) 睡眠 | 異常な脳 FDG ポジトロンCT | 異常な自律神経生理 | 発音障害 | 硬直 | 神経筋性嚥下障害 | 自律神経性勃起機能障害 | 自律神経性機能障害による起立性低血圧 | 自律神経性膀胱機能障害 | 起立性失心 | 軸性ジストニア | 進行性小脳失調 | 運動緩徐 | 錐体路運動機能の異常 | 頻回の転倒" ] }, { "id": "NANDO:2200466", "label_en": "Other diabetes mellitus", "label_ja": "1から6までに掲げるもののほか、糖尿病", "yomigana": "1から6までにかかげるもののほか、とうにょうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200466", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200517", "label_en": "Dystonia 6 ", "label_ja": "DYT6ジストニア", "yomigana": "でぃーわいてぃー6じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200517", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal dominant inheritance | Blepharospasm | Craniofacial dystonia | Dysarthria | Dysphonia | Dystonia | Generalized dystonia | Juvenile onset | Laryngeal dystonia | Limb dystonia | Myoclonus | Oromandibular dystonia | Torsion dystonia | Torticollis | Typified by incomplete penetrance | Writer's cramp | Young adult onset" ], "symptoms_ja_list": [ "ジストニア | ミオクローヌス | 全身性ジストニア | 口下顎ジストニア | 喉頭ジストニア | 四肢ジストニア | 常染色体顕性遺伝 | 捻転ジストニア | 斜頚 | 書痙 | 構音障害 | 発音障害 | 眼瞼スパスム | 頭蓋顔面ジストニア" ] }, { "id": "NANDO:1200880", "label_en": "obsolete Gorham disease", "label_ja": "obsolete ゴーハム病", "yomigana": "obsolete ごーはむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200880", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200070", "label_en": "Choriocarcinoma", "label_ja": "絨毛癌", "yomigana": "じゅうもうがん", "url": "http://nanbyodata.jp/ontology/NANDO_2200070", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201068", "label_en": "Agyria", "label_ja": "無脳回", "yomigana": "むのうかい", "url": "http://nanbyodata.jp/ontology/NANDO_1201068", "notificationNumber": "138", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200459", "label_en": "NLRC4 mutation", "label_ja": "NLRC4異常症", "yomigana": "えぬえるあーるしー4いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200459", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abnormal natural killer cell physiology | Anemia | Arthralgia | Autosomal dominant inheritance | Disseminated intravascular coagulation | Elevated circulating C-reactive protein concentration | Enterocolitis | Episodic vomiting | Failure to thrive | Fatigue | Feeding difficulties in infancy | Fever | Hypoalbuminemia | Hypofibrinogenemia | Increased circulating ferritin concentration | Meningitis | Myalgia | Neonatal onset | Pancytopenia | Recurrent fever | Secretory diarrhea | Short stature | Skin rash | Splenomegaly | Thrombocytopenia | Urticaria | Villous atrophy" ], "symptoms_ja_list": [ "CRP 上昇 | ナチュラルキラー細胞生理の異常 | 低フィブリノーゲン血症 | 低身長 | 分泌性下痢 | 嘔吐エピソード | 小腸結腸炎 | 常染色体顕性遺伝 | 成長障害 (成長不全) | 播種性血管内凝固 | 汎血球減少症 | 疲労 | 発熱 | 発熱エピソード | 皮膚発疹 | 筋痛 | 絨毛萎縮 | 脾腫 | 蕁麻疹 | 血小板減少 | 血清フェリチン増加 | 貧血 | 関節痛 | 食餌摂取障害 in infancy | 髄膜炎 | 高アルブミン血症" ] }, { "id": "NANDO:2100199", "label_en": "Antithrombin deficiency", "label_ja": "先天性アンチトロンビン欠乏症", "yomigana": "せんてんせいあんちとろんびんけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100199", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200693", "label_en": "Truncus arteriosus communis", "label_ja": "総動脈幹遺残症", "yomigana": "そうどうみゃくかんいざんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200693", "notificationNumber": "207", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal coronary artery morphology | Abnormal facial shape | Abnormal heart morphology | Abnormal heart valve morphology | Abnormal lung lobation | Adrenocortical abnormality | Anomalous origin of one pulmonary artery from ascending aorta | Aortic regurgitation | Atrial septal defect | Cardiomegaly | Cyanosis | Hypoplasia of the thymus | Interrupted aortic arch | Intrauterine growth retardation | Patent ductus arteriosus | Persistent left superior vena cava | Pulmonary artery atresia | Pulmonary artery hypoplasia | Pulmonary artery stenosis | Pulmonary edema | Pulmonary hypoplasia | Pulmonic stenosis | Right aortic arch | Right ventricular hypertrophy | Single coronary artery origin | Tachycardia | Tachypnea | Tetralogy of Fallot | Transposition of the great arteries | Truncus arteriosus | Ventricular septal defect" ], "symptoms_ja_list": [ "1つの肺動脈の上行大動脈からの起始異常 | Fallot 四徴症 | チアノーゼ | 冠動脈の異常 | 副腎皮質異常 | 動脈管開存症 | 単一冠動脈起始 | 右大動脈弓 | 右室肥大 | 多呼吸 | 大動脈弓離断 | 大動脈逆流 | 大血管転位 | 子宮内成長遅滞 | 心室中隔欠損 | 心弁の異常 | 心形態の異常 | 心房中隔欠損 | 心拡大 | 持続性左上大静脈 | 異常な顔の形 | 総動脈幹 | 肺低形成 | 肺分葉の異常 | 肺動脈低形成 | 肺動脈狭窄 | 肺動脈閉鎖 | 肺浮腫 | 胸腺低形成 | 頻拍" ] }, { "id": "NANDO:2200024", "label_en": "Hodgkin lymphoma", "label_ja": "ホジキンリンパ腫", "yomigana": "ほじきんりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200024", "notificationNumber": "89", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201143", "label_en": "DYT24 Dystonia", "label_ja": "DYT24 ジストニア", "yomigana": "でぃーわいてぃー24じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1201143", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of the larynx | Autosomal dominant inheritance | Blepharospasm | Hand tremor | Head tremor | Juvenile onset | Limb dystonia | Limb tremor | Myoclonus | Oromandibular dystonia | Torticollis | Typified by incomplete penetrance | Upper limb postural tremor | Vocal tremor | Young adult onset" ], "symptoms_ja_list": [ "ミオクローヌス | 上肢姿勢性振戦 | 口下顎ジストニア | 喉頭の異常 | 四肢ジストニア | 四肢振戦 | 常染色体顕性遺伝 | 手振戦 | 斜頚 | 眼瞼スパスム | 音声振戦 | 頭振戦" ] }, { "id": "NANDO:1200654", "label_en": "Occipital horn syndrome", "label_ja": "オクシピタル・ホーン症候群", "yomigana": "おくしぴたる・ほーんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200654", "notificationNumber": "170", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal fibula morphology | Abnormal pubic bone morphology | Abnormal skull morphology | Abnormality of the face | Abnormality of the sense of smell | Abnormality of the wrist | Absent tibia | Aplasia/hypoplasia of the humerus | Aplastic clavicle | Atypical scarring of skin | Avascular necrosis of the capital femoral epiphysis | Bladder carcinoma | Bladder diverticulum | Brachydactyly | Broad clavicle | Broad ribs | Bruising susceptibility | Capitate-hamate fusion | Carotid artery tortuosity | Cerebral calcification | Cholestasis | Chronic diarrhea | Coarse hair | Convex nasal ridge | Coxa valga | Coxa vara | Decreased circulating ceruloplasmin concentration | Decreased circulating copper concentration | Delayed cranial suture closure | Down-sloping shoulders | Downslanted palpebral fissures | Dysphagia | Esophagitis | Exostoses | Femoral hernia | Gastroesophageal reflux | Gastroparesis | Genu valgum | Global developmental delay | Growth delay | Hepatitis | Hiatus hernia | High forehead | High palate | High", "narrow palate | Hip dislocation | Hip dysplasia | Humerus varus | Hydronephrosis | Hyperextensible skin | Hypothermia | Hypotonia | Inguinal hernia | Intellectual disability | Jaundice | Joint hypermobility | Keloids | Kyphosis | Large fontanelles | Large iliac wing | Limited elbow extension | Limited knee extension | Long face | Long neck | Long philtrum | Narrow chest | Narrow face | Orthostatic hypotension | Osteolysis | Osteomalacia | Osteopenia | Osteoporosis | Pectus carinatum | Pectus excavatum | Pelvic bone exostoses | Persistent open anterior fontanelle | Pes planus | Pili torti | Platyspondyly | Poor suck | Recurrent urinary tract infections | Redundant skin | Rickets | Scarring | Scoliosis | Seizure | Short clavicles | Short humerus | Short palm | Soft skin | Specific learning disability | Synostosis of joints | Thick hair | Ureteral obstruction | Vascular dilatation | Venous insufficiency | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | くる病 | なで肩 | はと胸 | ケロイド | 上腕骨内反 | 上腕骨無形成/低形成 | 低体温 | 低銅血症 | 側弯 | 全般性発達遅滞 | 内反股 | 凸の鼻梁 | 出血傾向 | 分厚い毛髪 | 動脈瘤 | 反復性尿路感染症 | 吸啜不全 | 嗅覚の異常 | 嚥下障害 | 外反股 | 外反膝 | 外骨症 | 大きな泉門 | 大きな腸骨翼 | 大脳石灰化 | 大腿ヘルニア | 大腿骨骨頭骨端の無血管性壊死 | 尿管閉塞 | 幅広い肋骨 | 幅広い鎖骨 | 後弯 | 恥骨の異常 | 慢性下痢 | 成長遅滞 | 扁平脊椎 | 扁平足 | 手関節の異常 | 持続性に開いた大泉門 | 捻転毛 | 有頭骨有鉤骨癒合 | 柔らかい皮膚 | 水腎症 | 漏斗胸 | 特異的学習障害 | 狭い胸郭 | 狭い顔 | 瘢痕 | 発作 | 眼瞼裂斜下 | 知的障害 | 短い上腕骨 | 短い手掌 | 短い鎖骨 | 短指症候群 | 筋緊張低下 | 粗い毛髪 | 肘伸展制限 | 肝炎 | 股関節異形成 | 股関節脱臼 | 胃不全麻痺 | 胃食道逆流 | 胆汁うっ滞 | 脛骨欠損 | 腓骨の異常 | 膀胱憩室 | 膀胱癌 | 膝伸展制限 | 血清セルロプラスミン減少 | 裂孔ヘルニア | 起立性低血圧 | 過伸展皮膚 | 過剰な皮膚 | 鎖骨無形成 | 長い人中 | 長い頸部 | 長い顔 | 関節過動 | 関節骨癒合症 | 静脈不全 | 非典型的皮膚瘢痕 | 頚動脈蛇行 | 頭蓋骨の異常 | 頭蓋骨縫合閉鎖遅延 | 顔の異常 | 食道炎 | 骨減少症 | 骨盤外骨症 | 骨粗鬆症 | 骨融解 | 骨軟化症 | 高い額 | 高口蓋 | 高狭口蓋 | 黄疸 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201078", "label_en": "Classic form maple syrup urine disease", "label_ja": "古典型メープルシロップ尿症", "yomigana": "こてんがためーぷるしろっぷにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201078", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200155", "label_en": "Hypoplastic kidney", "label_ja": "低形成腎", "yomigana": "ていけいせいじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200155", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Abnormal renal cortex morphology | Abnormal renal morphology | Abnormal renal tubule morphology | Abnormality of the ureter | Chronic kidney disease | Decreased numbers of nephrons | Dehydration | Hydronephrosis | Hypertension | Pelvic kidney | Polydipsia | Premature birth | Proteinuria | Recurrent urinary tract infections | Renal insufficiency | Small for gestational age | Unilateral renal agenesis | Urethral valve | Vesicoureteral reflux" ], "symptoms_ja_list": [ "ネフロン数減少 | 反復性尿路感染症 | 在胎月齢より小さい児 | 多飲 | 尿管異常 | 尿道弁 | 慢性腎疾患 | 早産 | 水腎症 | 片側性腎無発生 | 脱水 | 腎不全 | 腎尿細管異常 | 腎形態異常 | 腎皮質異常 | 膀胱尿管逆流 | 蛋白尿 | 骨盤腎 | 高血圧" ] }, { "id": "NANDO:2200679", "label_en": "Factor XI deficiency", "label_ja": "第XI因子欠乏症", "yomigana": "だい11いんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200679", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200563", "label_en": "Fabry disease", "label_ja": "ファブリー病", "yomigana": "ふぁぶりーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200563", "notificationNumber": "124", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abdominal pain | Abnormal aortic valve morphology | Abnormal autonomic nervous system physiology | Abnormal circulating lipid concentration | Abnormal endocardium morphology | Abnormal femur morphology | Abnormal glycosphingolipid metabolism | Abnormal myocardium morphology | Abnormal renal tubule morphology | Abnormality of the hand | Achalasia | Airway obstruction | Anemia | Angina pectoris | Angiokeratoma | Angiokeratoma corporis diffusum | Anorexia | Anxiety | Arrhythmia | Arthralgia | Arthritis | Atrioventricular block | Atypical behavior | Bundle branch block | Cataract | Chronic pain | Chronic pulmonary obstruction | Coarse facial features | Cognitive impairment | Congestive heart failure | Conjunctival telangiectasia | Corneal dystrophy | Corneal opacity | Delayed puberty | Depression | Developmental regression | Diabetes insipidus | Diarrhea | Dyspnea | Emphysema | Exercise intolerance | Fasciculations | Fatigue | Fever | Glomerulopathy | Hearing impairment | Heat intolerance | Hematuria | Hyperhidrosis | Hyperkeratosis | Hyperlipidemia | Hypertension | Hypertrophic cardiomyopathy | Hypohidrosis | Juvenile onset | Left ventricular hypertrophy | Lymphedema | Malabsorption | Mitral regurgitation | Mucosal telangiectasiae | Muscle spasm | Myalgia | Myocardial infarction | Nausea | Nausea and vomiting | Nephropathy | Nephrotic syndrome | Optic atrophy | Paresthesia | Proteinuria | Reduced bone mineral density | Renal insufficiency | Respiratory insufficiency | Seizure | Sensorineural hearing impairment | Short stature | Stroke | Subcutaneous nodule | Telangiectasia of the skin | Tenesmus | Thick lower lip vermilion | Tinnitus | Transient ischemic attack | Ventricular septal hypertrophy | Vertigo | Vomiting | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うっ血性心不全 | うつ | びまん性体部被角血管腫 | アカラジア | グリコスフィンゴリピド 代謝の異常 | ネフローゼ症候群 | リンパ性浮腫 | 一過性虚血発作 | 下痢 | 不安 | 不整脈 | 低身長 | 僧帽弁逆流 | 分厚い下口唇唇紅部 | 卒中 | 吐気 | 吐気と 嘔吐 | 吸収障害 | 呼吸不全 | 呼吸困難 | 嘔吐 | 多汗 | 大動脈弁の異常 | 大腿骨の異常 | 尿崩症 | 左室中隔肥大 | 左室肥大 | 心内膜の異常 | 心筋の異常 | 心筋梗塞 | 思春期遅発 | 感覚異常 | 感音難聴 | 慢性疼痛 | 慢性閉塞性肺疾患 | 房室ブロック | 手の異常 | 減汗症 | 熱不耐性 | 狭心症 | 異常な自律神経生理 | 疲労 | 発作 | 発熱 | 発達退行 | 白内障 | 皮下結節 | 皮膚毛細血管拡張 | 眩暈 | 筋けいれん | 筋痛 | 粗な顔貌 | 粘膜の毛細血管拡張 | 糸球体症 | 結膜毛細血管拡張 | 線維束性収縮 | 耳鳴 | 肥大型心筋症 | 肺気腫 | 脂質代謝の異常 | 脚ブロック | 腎不全 | 腎尿細管異常 | 腎症 | 腹痛 | 蛋白尿 | 血尿 | 行動異常 | 被角血管腫 | 裏急後重", "テネスムス | 視神経萎縮 | 角膜ジストロフィー | 角膜混濁 | 認知障害 | 貧血 | 運動不耐症 | 過角化症 | 閉塞性肺疾患 | 関節炎 | 関節痛 | 難聴 | 食思不振 | 骨ミネラル濃度減少 | 高脂血症 | 高血圧" ] }, { "id": "NANDO:1200639", "label_en": "obsolete Chédiak-Higashi syndrome", "label_ja": "obsolete チェディアック・東症候群", "yomigana": "ちぇでぃあっく・ひがししょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200639", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200217", "label_en": "Miyoshi myopathy", "label_ja": "三好型ミオパチー", "yomigana": "みよしがたみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200217", "notificationNumber": "30", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of the cardiovascular system | Calf muscle hypertrophy | Decreased/absent ankle reflexes | Difficulty climbing stairs | Difficulty standing | Distal lower limb amyotrophy | Distal lower limb muscle weakness | Distal upper limb amyotrophy | Exercise-induced myalgia | Foot dorsiflexor weakness | Gait disturbance | Intrinsic hand muscle atrophy | Loss of ambulation | Muscle stiffness | Myalgia | Pelvic girdle muscle weakness | Proximal amyotrophy | Proximal lower limb muscle weakness | Quadriceps muscle weakness | Respiratory insufficiency due to muscle weakness | Shoulder girdle muscle weakness | Tibialis anterior muscle atrophy | Tibialis muscle weakness" ], "symptoms_ja_list": [ "下肢の近位筋虚弱 | 大腿四頭筋 筋虚弱 | 心血管系 | 手固有筋萎縮 | 歩行障害 | 筋痛 | 筋硬直 | 筋虚弱による呼吸不全 | 肩帯筋虚弱 | 脛骨筋萎縮 | 脛骨筋虚弱 | 腓腹筋肥大 | 起立困難 | 足背屈筋虚弱 | 足腱反射の減少/欠損 | 近位筋萎縮 | 進行性歩行不安定 | 運動誘発性筋痛 | 遠位上肢筋萎縮 | 遠位下肢筋萎縮 | 遠位下肢筋虚弱 | 階段の登り困難 | 骨盤帯筋筋虚弱" ] }, { "id": "NANDO:1200401", "label_en": "17-α-Hydroxylase deficiency", "label_ja": "17α−水酸化酵素欠損症", "yomigana": "17あるふぁすいさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200401", "notificationNumber": "81", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Absence of pubertal development | Absence of secondary sex characteristics | Absent axillary hair | Absent pubic hair | Adrenal hyperplasia | Adrenocorticotropic hormone excess | Adrenogenital syndrome | Ambiguous genitalia | Ambiguous genitalia", "male | Aplasia of the uterus | Autosomal recessive inheritance | Bifid scrotum | Bilateral cryptorchidism | Congenital adrenal hyperplasia | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Decreased circulating renin concentration | Decreased fertility | Delayed puberty | Delayed skeletal maturation | Elevated circulating follicle stimulating hormone level | Elevated circulating luteinizing hormone level | Failure to thrive | Female external genitalia in individual with 46", "XY karyotype | Gynecomastia | Hypertension | Hypokalemia | Hypokalemic alkalosis | Hypospadias | Increased circulating gonadotropin level | Irregular menstruation | Male hypogonadism | Male infertility | Male pseudohermaphroditism | Micropenis | Muscle spasm | Ovarian cyst | Precocious puberty in females | Primary adrenal insufficiency | Primary amenorrhea" ], "symptoms_ja_list": [ "46", "XY核型での女性外性器 | ゴナドトロピン過剰症 | 両側性停留精巣 | 二分陰嚢 | 二次性徴欠損 | 低アルドステロン症 | 低カリウム血症 | 低カリウム血症性アルカロージス | 先天性副腎過形成 | 副腎性器症候群 | 副腎皮質刺激ホルモン過剰 | 副腎過形成 | 卵巣嚢胞 | 卵胞刺激ホルモン上昇 | 原発性副腎不全 | 原発性無月経 | 女性での思春期早発 | 女性型乳房 | 妊孕性減少 | 子宮無形成 | 小陰茎 | 尿道下裂 | 常染色体潜性遺伝 | 循環性コルチゾール値減少 | 循環性レニン値減少 | 思春期発達欠損 | 思春期遅発 | 性別不明の外性器 | 性別不明の外性器", "男性 | 恥毛欠損 | 成長障害 (成長不全) | 月経不純 | 男性不妊 | 男性仮性半陰陽 | 男性性腺機能低下症 | 筋けいれん | 腋毛欠損 | 骨格骨化遅延 | 高血圧 | 黄体形成ホルモン上昇" ] }, { "id": "NANDO:2201371", "label_en": "Stage II huge arteriovenous malformation", "label_ja": "巨大動静脈奇形（Stage II）", "yomigana": "きょだいどうじょうみゃくきけい（すてーじ2）", "url": "http://nanbyodata.jp/ontology/NANDO_2201371", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200234", "label_en": "Epidermolysis bullosa", "label_ja": "表皮水疱症", "yomigana": "ひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200234", "notificationNumber": "36", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200402", "label_en": "P450 oxidoreductase deficiency", "label_ja": "P450酸化還元酵素欠損症", "yomigana": "ぴー450さんかかんげんこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200402", "notificationNumber": "81", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal antihelix morphology | Abnormal earlobe morphology | Abnormal external genitalia morphology | Abnormal facial shape | Abnormal female external genitalia morphology | Abnormal foot morphology | Abnormal male external genitalia morphology | Abnormal metacarpal epiphysis morphology | Abnormal metacarpophalangeal joint morphology | Abnormal pinna morphology | Abnormal rib morphology | Abnormal umbilical cord blood vessel morphology | Abnormal vertebral morphology | Abnormality of skeletal maturation | Abnormality of the hand | Abnormality of the skeletal system | Abnormality of the urinary system | Abnormality of the wrist | Adrenal hyperplasia | Ambiguous genitalia | Anteriorly placed anus | Arachnodactyly | Autosomal recessive inheritance | Bowing of the long bones | Brachycephaly | Brachydactyly | Bulbous nose | Camptodactyly | Chiari malformation | Choanal atresia | Choanal stenosis | Conductive hearing impairment | Congenital adrenal hyperplasia | Constipation | Craniosynostosis | Cryptorchidism | Cubitus valgus | Decreased circulating cortisol level | Decreased fertility | Decreased serum estradiol | Delayed fine motor development | Delayed puberty | Delayed speech and language development | Depressed nasal bridge | Dilatation of the renal pelvis | Disproportionate tall stature | Elbow ankylosis | Elbow flexion contracture | Elevated circulating follicle stimulating hormone level | Elevated circulating luteinizing hormone level | Enlarged polycystic ovaries | Femoral bowing | Flexion contracture | Frontal bossing | Gastroesophageal reflux | High", "narrow palate | Hirsutism | Humeroradial synostosis | Hydrocephalus | Hypertension | Hypoplastic scapulae | Hypospadias | Increased circulating ACTH level | Limitation of joint mobility | Limited elbow extension | Long palm | Low-set ears | Maternal virilization in pregnancy | Metacarpal synostosis | Metatarsal synostosis | Micropenis | Midface retrusion | Midfrontal capillary hemangioma | Narrow chest | Narrow mouth | Narrow pelvis bone | Oligozoospermia | Polycystic ovaries | Primary amenorrhea | Proximal tibial and fibular fusion | Radioulnar dislocation | Radioulnar synostosis | Rocker bottom foot | Scoliosis | Short metacarpal | Short nose | Shortening of all distal phalanges of the fingers | Stenosis of the external auditory canal | Stillbirth | Talipes | Talipes equinovarus | Tarsal synostosis | Turricephaly | Ulnar deviation of the wrist | Unilateral renal agenesis | Vesicoureteral reflux | Wide anterior fontanel" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | くも指 | 上腕骨橈骨癒合 | 不均衡型高身長 | 中手指節関節 (MP関節)の異常 | 中手骨癒合 | 中手骨骨端の異常 | 中足骨癒合症 | 乏精子症 | 伝音難聴 | 便秘 | 停留精巣 | 側弯 | 先天性副腎過形成 | 内反尖足 | 前方位肛門 | 前頭突出", "額突出 | 副腎過形成 | 卵胞刺激ホルモン上昇 | 原発性無月経 | 塔状頭 | 外反肘 | 外性器異常 | 外耳道狭窄 | 多嚢胞性卵巣 | 多嚢胞性卵巣拡大 | 多毛 | 大腿骨湾曲 | 女性外性器異常 | 妊孕性減少 | 対耳輪の異常 | 小陰茎 | 尖足 | 尿路異常 | 尿道下裂 | 屈指 | 屈曲拘縮 | 常染色体潜性遺伝 | 幅広い大泉門 | 後鼻孔狭窄 | 後鼻孔閉鎖 | 循環性ACTH 値増加 | 循環性コルチゾール値減少 | 思春期遅発 | 性別不明の外性器 | 手の異常 | 手関節の尺側偏位 | 手関節の異常 | 指の全末節骨の短縮 | 揺り椅子状足底 | 橈尺骨癒合 | 橈尺骨脱臼 | 正中前頭毛細血管腫 | 母体妊娠中男性化 | 水頭症 | 片側性腎無発生 | 狭い口 | 狭い胸郭 | 狭い骨盤 | 球状の鼻 | 男性外性器異常 | 異常な臍帯血管 | 異常な顔の形 | 発語および言語発達遅延 | 短い中手骨 | 短い鼻 | 短指症候群 | 短頭 | 繊細運動発達遅延 | 耳介の異常 | 耳介低位 | 耳朶の異常 | 肋骨の異常 | 肘伸展制限 | 肘屈曲拘縮 | 肘強直 | 肩甲骨低形成 | 胃食道逆流 | 脊椎の異常 | 腎盂拡張 | 膀胱尿管逆流 | 落ちくぼんだ鼻梁 | 血清エストラジオール減少 | 足の異常 | 足根骨癒合症 | 近位脛骨および腓骨癒合 | 長い手掌 | 長管骨湾曲 | 関節運動制限 | 頭蓋合骨症 | 顔面中部後退 | 骨成熟の異常 | 骨格の異常 | 高狭口蓋 | 高血圧 | 黄体形成ホルモン上昇" ] }, { "id": "NANDO:2200908", "label_en": "Congenital sucrase-isomaltase deficiency", "label_ja": "ショ糖イソ麦芽糖分解酵素欠損症", "yomigana": "しょとういそばくがとうぶんかいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200908", "notificationNumber": "26", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100254", "symptoms_en_list": [ "Abdominal colic | Abdominal distention | Abdominal pain | Autosomal recessive inheritance | Bowel incontinence | Constipation | Diarrhea | Failure to thrive | Fatigue | Gastroesophageal reflux | Infantile onset | Kidney stone | Malabsorption | Nausea | Poor appetite | Vomiting" ], "symptoms_ja_list": [ "下痢 | 便秘 | 吐気 | 吸収障害 | 嘔吐 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 疲労 | 胃食道逆流 | 腎結石 | 腹痛 | 腹部疝痛 | 腹部膨満 | 遺糞症 | 食思不振" ] }, { "id": "NANDO:2100031", "label_en": "Bronchial asthma", "label_ja": "気管支喘息", "yomigana": "きかんしぜんそく", "url": "http://nanbyodata.jp/ontology/NANDO_2100031", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200053", "label_en": "Pure hereditary spastic paraplegia", "label_ja": "痙性対麻痺（純粋型）", "yomigana": "けいせいついまひ（じゅんすいがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200053", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201016", "label_en": "Intestinal Behçet's Disease", "label_ja": "腸管型ベーチェット病", "yomigana": "ちょうかんがたべーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201016", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100096", "label_en": "Origin of pulmonary artery from ascending aorta", "label_ja": "肺動脈上行大動脈起始症", "yomigana": "はいどうみゃくじょうこうだいどうみゃくきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100096", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200957", "label_en": "Congenital anomalies syndrome", "label_ja": "先天異常症候群", "yomigana": "せんてんいじょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200957", "notificationNumber": "310", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201281", "label_en": "p47phox-deficient chronic granulomatous disease", "label_ja": "p47phox欠損慢性肉芽腫症", "yomigana": "ぴー47ふぉっくすけっそんまんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201281", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Absence of bactericidal oxidative respiratory burst in phagocytes | Autosomal recessive inheritance | Cellulitis | Decreased activity of NADPH oxidase | Decreased neutrophil oxidative burst | Discoid lupus rash | Eczematoid dermatitis | Granulomatosis | Hepatomegaly | Immunodeficiency | Juvenile onset | Liver abscess | Lymphadenitis | Lymphadenopathy | Osteomyelitis | Rectal abscess | Recurrent Aspergillus infection | Recurrent Burkholderia cepacia infection | Recurrent Escherichia coli infection | Recurrent Klebsiella infection | Recurrent Serratia infection | Recurrent Staphylococcus aureus infection | Recurrent bacterial skin infections | Recurrent pneumonia | Splenomegaly" ], "symptoms_ja_list": [ "NADPH oxidase活性の減少 | nitroblue tetrazolium (NBT) 還元試験陰性 | リンパ節炎 | リンパ節腫大 | 免疫不全 | 円板状紅斑性狼瘡 | 反復性アスペルギルス感染症 | 反復性クレブシエラ感染症 | 反復性セパシア菌感染症 | 反復性セラチア菌感染症 | 反復性大腸菌感染症 | 反復性細菌性皮膚感染症 | 反復性肺炎 | 反復性黄色ブドウ球菌感染症 | 常染色体潜性遺伝 | 湿疹 | 直腸膿瘍 | 肉芽腫症 | 肝腫 | 肝膿瘍 | 脾腫 | 蜂巣織炎 | 貪食細胞での殺菌的酸化 '呼吸バースト' の欠損 | 骨髄炎" ] }, { "id": "NANDO:1200274", "label_en": "Dermatomyositis", "label_ja": "皮膚筋炎", "yomigana": "ひふきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200274", "notificationNumber": "50", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal eosinophil morphology | Abnormal eyelid morphology | Abnormal hair quantity | Abnormal nail morphology | Abnormal pulmonary interstitial morphology | Acrocyanosis | Alopecia | Aplasia/Hypoplasia of the skin | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Breast carcinoma | Cellulitis | Chondrocalcinosis | Cutaneous photosensitivity | Diffuse reticular or finely nodular infiltrations | Dry skin | Dysphagia | Dysphonia | EMG abnormality | EMG: myopathic abnormalities | Edema | Elevated circulating aldolase concentration | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Erythema | Facial erythema | Fatigue | Feeding difficulties in infancy | Fever | Gangrene | Gastrointestinal stroma tumor | Hypotonia | Inflammatory myopathy | Limb-girdle muscle weakness | Lymphoma | Myalgia | Myocardial infarction | Myocarditis | Myositis | Neoplasm | Palmar hyperkeratosis | Papule | Pericarditis | Periorbital edema | Poikiloderma | Proximal muscle weakness | Pruritus | Pulmonary arterial hypertension | Pulmonary fibrosis | Recurrent respiratory infections | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Sinus tachycardia | Skin rash | Skin ulcer | Telangiectasia of the skin | Vasculitis | Weight loss" ], "symptoms_ja_list": [ "びまん性網状または微細結節性浸潤 | アルドラーゼ値上昇 | リンパ腫 | 不整脈 | 丘疹 | 乳房癌 | 乾いた皮膚 | 体重喪失 | 反復性呼吸器感染症 | 呼吸不全 | 嚥下障害 | 壊疽 | 多形皮膚萎縮症 (ポイキロデルマ) | 好酸球の異常 | 心外膜炎 | 心筋梗塞 | 心筋炎 | 手掌過角化症 | 掻痒 | 新生物 | 洞性頻拍 | 浮腫 | 炎症性ミオパチー | 爪の異常 | 異常な毛髪量 | 疲労 | 発熱 | 発音障害 | 皮膚光線過敏症 | 皮膚毛細血管拡張 | 皮膚潰瘍 | 皮膚無形成/低形成 | 皮膚発疹 | 眼瞼の異常 | 眼窩周囲浮腫 | 禿頭 | 筋炎 | 筋痛 | 筋緊張低下 | 筋虚弱による呼吸不全 | 筋電図: ミオパチー異常 | 筋電図異常 | 紅斑 | 肝トランスアミナーゼ上昇 | 肢帯筋虚弱 | 肢端チアノーゼ | 肺線維症 | 肺高血圧 | 胃腸間質腫瘍 | 自己免疫 | 蜂巣織炎 | 血清 creatine phosphokinase上昇 | 血管炎 | 軟骨石灰化症 | 近位筋虚弱 | 間質性肺疾患 | 関節炎 | 関節痛 | 顔面紅斑 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200624", "label_en": "obsolete Multiple sulfatase deficiency", "label_ja": "obsolete マルチプルスルファターゼ欠損症", "yomigana": "まるちぷるするふぁたーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200624", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200921", "label_en": "Crohn's disease", "label_ja": "クローン病", "yomigana": "くろーんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200921", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100259", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200977", "label_en": "Coffin-Siris syndrome", "label_ja": "コフィン・シリス症候群", "yomigana": "こふぃん・しりすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200977", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal facial shape | Abnormal heart morphology | Abnormality of the genitourinary system | Absent speech | Agenesis of corpus callosum | Aggressive behavior | Anteverted nares | Aspiration pneumonia | Atrial septal defect | Atypical behavior | Autistic behavior | Broad nasal tip | Broad philtrum | Coarse facial features | Cryptorchidism | Dandy-Walker malformation | Delayed eruption of teeth | Delayed skeletal maturation | Depressed nasal bridge | Feeding difficulties | Floppy infant | Growth delay | Hearing impairment | Hepatoblastoma | Hernia | Hirsutism | Horseshoe kidney | Hyperactivity | Hypertrichosis | Hypoplastic fifth fingernail | Hypoplastic fifth toenail | Hypospadias | Intrauterine growth retardation | Joint hypermobility | Low anterior hairline | Microcephaly | Moderate intellectual disability | Myopia | Oral aversion | Papillary thyroid carcinoma | Patent ductus arteriosus | Postnatal growth retardation | Prominent eyelashes | Ptosis | Recurrent infections | Recurrent upper respiratory tract infections | Scoliosis | Seizure | Severe intellectual disability | Short 5th finger | Short nose | Simplified gyral pattern | Small nail | Sparse scalp hair | Strabismus | Tetralogy of Fallot | Thick eyebrow | Thick lower lip vermilion | Thick nasal alae | Thin upper lip vermilion | Ventricular septal defect | Visual impairment | Wide mouth | Wide nasal base" ], "symptoms_ja_list": [ "Dandy-Walker 奇形 | Fallot 四徴症 | ヘルニア | 上向きの鼻孔 | 乳児筋性筋緊張低下 | 低い前部毛髪線 | 停留精巣 | 側弯 | 分厚い下口唇唇紅部 | 分厚い眉毛 | 分厚い鼻翼 | 動脈管開存症 | 反復性上気道感染症 | 反復性感染症 | 口嫌悪 | 多動 | 多毛 | 多毛症 | 子宮内成長遅滞 | 小さい爪 | 小頭 | 尿道下裂 | 幅広い人中 | 幅広い口 | 幅広い鼻基部 | 幅広い鼻尖 | 心室中隔欠損 | 心形態の異常 | 心房中隔欠損 | 成長遅滞 | 攻撃的行動 | 斜視 | 歯萠出遅延 | 泌尿生殖器異常 | 生後の成長遅滞 | 甲状腺乳頭癌 | 異常な顔の形 | 疎な頭髪 | 発作 | 発語欠損 | 皮質脳回単純化 | 目立つ睫毛 | 眼瞼下垂 | 知的障害", "中道動脈瘤 | 知的障害", "重度 | 短い第5指 | 短い鼻 | 第5指爪低形成 | 第5趾爪低形成 | 粗な顔貌 | 肝芽腫 | 脳梁無発生 of | 自閉性行動 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 行動異常 | 視力障害 | 誤嚥性肺炎 | 近視 | 関節過動 | 難聴 | 食餌摂取障害 | 馬蹄腎 | 骨格骨化遅延" ] }, { "id": "NANDO:2201279", "label_en": "gp91phox-deficient chronic granulomatous disease", "label_ja": "gp91phox欠損慢性肉芽腫症", "yomigana": "じーぴー91ふぉっくすけっそんまんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201279", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Infantile onset | Recurrent mycobacterial infections | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | 反復性マイコバクテリウム感染症" ] }, { "id": "NANDO:1200751", "label_en": "Alveolar hypoventilation syndrome", "label_ja": "肺胞低換気症候群", "yomigana": "はいほうていかんきしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200751", "notificationNumber": "230", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Allergy | Anti-smooth muscle antibody positivity | Antineutrophil antibody positivity | Antinuclear antibody positivity | Autosomal dominant inheritance | Cardiomegaly | Cough | Cow milk allergy | Dyspnea | Failure to thrive | Fatigue | Fever | Glomerulonephritis | Hemoptysis | Hepatomegaly | Hepatosplenomegaly | Iron deficiency anemia | Pallor | Pulmonary fibrosis | Pulmonary infiltrates | Recurrent intrapulmonary hemorrhage | Respiratory failure | Respiratory insufficiency | Restrictive ventilatory defect | Rheumatoid factor positive | Transient pulmonary infiltrates" ], "symptoms_ja_list": [ "アレルギー | リウマチ因子陽性 | 一過性肺浸潤 | 反復性肺内出血 | 呼吸不全 | 呼吸困難 | 喀血 | 外層 | 常染色体顕性遺伝 | 平滑筋 抗体陽性 | 心拡大 | 成長障害 (成長不全) | 抗好中球抗体陽性 | 抗核抗体陽性 | 拘束性肺疾患 | 牛乳アレルギー | 疲労 | 発熱 | 糸球体腎炎 | 肝脾腫 | 肝腫 | 肺浸潤 | 肺線維症 | 蒼白 | 鉄欠乏症貧血" ] }, { "id": "NANDO:1200251", "label_en": "Takayasu arteritis", "label_ja": "高安動脈炎", "yomigana": "たかやすどうみゃくえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200251", "notificationNumber": "40", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal endocardium morphology | Abnormal heart valve morphology | Abnormal speech pattern | Amaurosis fugax | Anemia | Anorexia | Aortic regurgitation | Arterial stenosis | Arteritis | Arthralgia | Arthritis | Ascending tubular aorta aneurysm | Autosomal recessive inheritance | Cerebral ischemia | Chest pain | Congestive heart failure | Dilated cardiomyopathy | Dyspnea | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Erythema nodosum | Fatigue | Fever | Gangrene | Gastrointestinal infarctions | Headache | Hemoptysis | Hypertension | Hypertensive crisis | Increased inflammatory response | Intermittent claudication | Migraine | Muscle weakness | Myalgia | Myocardial infarction | Pulmonary arterial hypertension | Reduced consciousness | Renal artery stenosis | Retinopathy | Seizure | Skin ulcer | Stroke | Transient ischemic attack | Vascular dilatation | Vasculitis | Vertigo | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | うっ血性心不全 | 一過性虚血発作 | 一過性黒内障 | 上行大動脈拡張 | 体重喪失 | 偏頭痛 | 共通 | 動脈炎 | 動脈狭窄 | 動脈瘤 | 卒中 | 呼吸困難 | 喀血 | 壊疽 | 大動脈弁の異常 | 大動脈逆流 | 大脳虚血 | 常染色体潜性遺伝 | 心内膜の異常 | 心弁の異常 | 心筋梗塞 | 意識減少/混乱 | 拡張型心筋症 | 炎症反応増加 | 疲労 | 発作 | 発熱 | 皮膚潰瘍 | 眩暈 | 神経学的発語障害 | 筋痛 | 筋虚弱 | 結節性紅斑 | 網膜症 | 肺高血圧 | 胃腸梗塞 | 腎動脈狭窄 | 血管炎 | 視力障害 | 貧血 | 赤沈値上昇 | 間歇的跛行 | 関節炎 | 関節痛 | 頭痛 | 食思不振 | 高血圧 | 高血圧クライシス" ] }, { "id": "NANDO:1201085", "label_en": "Classical-like Ehlers-Danlos syndrome", "label_ja": "類古典型エーラス・ダンロス症候群", "yomigana": "るいこてんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201085", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal facial shape | Abnormal foot morphology | Abnormal platelet count | Abnormal toe morphology | Abnormality of circulating fibrinogen | Alopecia | Aortic arch aneurysm | Aortic root aneurysm | Arachnodactyly | Ascending tubular aorta aneurysm | Astigmatism | Atrophic scars | Atypical scarring of skin | Autosomal dominant inheritance | Autosomal recessive inheritance | Bilateral ptosis | Bruising susceptibility | Cardiomyopathy | Carotid artery stenosis | Cellulitis | Cervical C2/C3 vertebral fusion | Childhood onset | Chronic fatigue | Congenital onset | Cryptorchidism | Diabetes mellitus | Dislocated wrist | Elbow dislocation | Equinus calcaneus | Generalized joint hypermobility | Global developmental delay | Hallux valgus | Hammertoe | High palate | Hip dislocation | Hyperextensible skin | Hyperpigmentation of the skin | Hypertriglyceridemia | Hypotonia | Impaired temperature sensation | Infantile onset | Inguinal hernia | Intermittent claudication | Joint dislocation | Joint hypermobility | Keloids | Keratoconjunctivitis sicca | Knee dislocation | Kyphoscoliosis | Kyphosis | Long uvula | Low back pain | Low posterior hairline | Macrotia | Micrognathia | Mitral valve prolapse | Molluscoid pseudotumors | Motor delay | Multiple joint dislocation | Myopia | Narrow palate | Neonatal onset | Neonatal respiratory distress | Osteoarthritis | Osteopenia | Pectus excavatum | Pericardial effusion | Periodontitis | Pes planus | Phalangeal dislocation | Poor wound healing | Premature loss of teeth | Prematurely aged appearance | Prolonged bleeding time | Prominent superficial veins | Prominent veins on trunk | Radioulnar dislocation | Recurrent patellar dislocation | Recurrent thrombophlebitis | Reduced von Willebrand factor activity | Redundant skin | Sacral dimple | Sandal gap | Short neck | Shoulder dislocation | Soft", "doughy skin | Squared iliac bones | Strabismus | Sunken cheeks | Tendon rupture | Thoracic aortic aneurysm | Thoracic scoliosis | Tooth malposition | Umbilical hernia | Varicose veins | Venous insufficiency | Ventral hernia | Webbed neck" ], "symptoms_ja_list": [ "von Willebrand 因子活性の減少 | くも指 | ケロイド | サンダルギャップ | 上行大動脈拡張 | 下背部痛 | 両側性眼瞼下垂 | 乱視 | 乾燥性 | 仙骨部陥凹 | 停留精巣 | 傷治癒不全 | 僧帽弁逸脱 | 全般性発達遅滞 | 全身性関節弛緩 | 出血傾向 | 反復性膝蓋骨脱臼 | 反復性血栓性静脈炎 | 四角い腸骨 | 外反母趾 | 多発性関節脱臼 | 大動脈基部拡大 | 大動脈弓拡張 | 大耳 | 小顎 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 後側弯 | 後弯 | 後部毛髪線低位 | 循環性フィブリノーゲンの異常 | 心外膜滲出液 | 心筋症 | 慢性疲労 | 扁平足 | 手関節脱臼 | 指趾骨脱臼 | 斜視 | 新生児呼吸窮迫 | 早発性歯喪失 | 早老外観 | 柔らかいパン生地様の皮膚 | 槌趾 | 橈尺骨脱臼 | 歯不正配列 | 歯周炎 | 温度覚障害 | 漏斗胸 | 狭い口蓋 | 異常な顔の形 | 皮膚高色素 | 目立つ体幹静脈 | 目立つ表面静脈 | 短い頸部 | 禿頭 | 筋緊張低下 | 糖尿病 | 翼状頚 | 肘脱臼 | 股関節脱臼 | 肩脱臼 | 胸部側弯 | 胸部大動脈瘤 | 腱破裂 | 腹壁ヘルニア | 膝関節脱臼 | 臍ヘルニア | 萎縮性瘢痕 | 落ちくぼんだ頬部 | 蜂巣織炎 | 血小板数の異常 | 足の異常 | 趾に異常 | 踵骨尖足 | 軟属腫様偽腫瘍 | 近視 | 運動発達遅滞 | 過伸展皮膚 | 過剰な皮膚 | 遷出血時間遷延 | 長い口蓋垂 | 間歇的跛行 | 関節脱臼 | 関節過動 | 静脈不全 | 静脈瘤 | 非典型的皮膚瘢痕 | 頚動脈狭窄 | 頚椎癒合 (C2/C3) | 骨減少症 | 骨関節炎 | 高トリグリセリド血症 | 高口蓋 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200769", "label_en": "Refsum disease", "label_ja": "レフサム病", "yomigana": "れふさむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200769", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal epiphysis morphology | Abnormal foot morphology | Abnormal pyramidal sign | Abnormal renal physiology | Abnormal retinal pigmentation | Abnormality of eye movement | Abnormality of metabolism/homeostasis | Abnormality of the eye | Abnormality of vision | Anosmia | Arrhythmia | Ataxia | Autosomal recessive inheritance | Cardiomegaly | Cardiomyopathy | Cataract | Congestive heart failure | Developmental regression | Dry skin | Elevated circulating phytanic acid concentration | Hammertoe | Heart block | Hemiplegia/hemiparesis | Hyporeflexia | Hypotonia | Ichthyosis | Increased CSF protein concentration | Limb muscle weakness | Microphthalmia | Miosis | Multiple epiphyseal dysplasia | Nail dysplasia | Nyctalopia | Nystagmus | Peripheral neuropathy | Pes cavus | Progressive visual loss | Ptosis | Renal insufficiency | Respiratory insufficiency | Retinal degeneration | Retinopathy | Rod-cone dystrophy | Sensorimotor neuropathy | Sensorineural hearing impairment | Severe intellectual disability | Short fourth metatarsal | Short metacarpal | Skeletal dysplasia | Skeletal muscle atrophy | Somatic sensory dysfunction | Splenomegaly | Visual impairment" ], "symptoms_ja_list": [ "うっ血性心不全 | フィタン酸値上昇 | 不整脈 | 乾いた皮膚 | 代謝/ホメオスターシスの異常 | 凹足 | 反射低下 | 呼吸不全 | 四肢筋虚弱 | 多発性骨端異形成 | 夜盲症 | 小眼球 | 常染色体潜性遺伝 | 心ブロック | 心拡大 | 心筋症 | 感覚運動ニューロパチー | 感覚障害 | 感音難聴 | 末梢神経ニューロパチー | 槌趾 | 無嗅覚 | 爪異形成 | 片麻痺/片側不全麻痺 | 発達退行 | 白内障 | 眼の異常 | 眼振 | 眼瞼下垂 | 眼運動の異常 | 知的障害", "重度 | 短い中手骨 | 短い第4中足骨 | 筋緊張低下 | 筋萎縮 | 網膜変性 | 網膜症 | 網膜色素異常 | 縮瞳 | 脾腫 | 腎不全 | 腎生理異常 | 色素性網膜炎 | 視力障害 | 視覚の異常 | 足の異常 | 進行性視力喪失 | 運動失調 | 錐体路運動機能の異常 | 骨格異形成 | 骨端の異常 | 髄液タンパクの増加 | 魚鱗癬" ] }, { "id": "NANDO:2100293", "label_en": "Bone disease", "label_ja": "骨系統疾患", "yomigana": "こつけいとうしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100293", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100291", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200097", "label_en": "Gangliocytoma", "label_ja": "神経節腫", "yomigana": "しんけいせつしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200097", "notificationNumber": "57", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Abnormal brainstem morphology | Abnormal cerebellum morphology | Abnormal pituitary gland morphology | Accelerated skeletal maturation | Adrenocorticotropic hormone excess | Amenorrhea | Dementia | Distal muscle weakness | Elevated circulating growth hormone concentration | Excessive daytime somnolence | Focal-onset seizure | Ganglioneuroma | Headache | Hemianopia | Hyperhidrosis | Impotence | Neoplasm of the central nervous system | Paresthesia | Pituitary null cell adenoma | Pituitary prolactin cell adenoma | Polyphagia | Scoliosis | Spinal cord tumor | Syringomyelia" ], "symptoms_ja_list": [ "Dementia | インポテンス | 下垂体ヌル細胞腺腫 | 下垂体プロラクチン細胞腺腫 | 下垂体異常 | 中枢神経新生物 | 側弯 | 副腎皮質刺激ホルモン過剰 | 半盲 | 嗜眠 | 多汗 | 小脳の異常 | 感覚異常 | 成長ホルモン過剰症 | 無月経 | 焦点性発作 | 神経節神経腫 | 脊髄空洞症 | 脊髄腫瘍 | 脳幹形態の異常 | 過食症 | 遠位筋虚弱 | 頭痛 | 骨成熟促進" ] }, { "id": "NANDO:2200265", "label_en": "Common atrium", "label_ja": "単心房症", "yomigana": "たんしんぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200265", "notificationNumber": "49", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100085", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200933", "label_en": "Stargardt disease", "label_ja": "Stargardt病", "yomigana": "すたーがるどびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200933", "notificationNumber": "301", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal choroid morphology | Abnormal foveal morphology | Abnormal macular pigmentation | Abnormality of visual evoked potentials | Aplasia/Hypoplasia of the macula | Central scotoma | Color vision defect | Macular degeneration | Nyctalopia | Paroxysmal involuntary eye movements | Reduced visual acuity | Retinal pigment epithelial atrophy | Retinal pigment epithelial mottling" ], "symptoms_ja_list": [ "中心暗点 | 中心窩の異常 | 中心視力減少 | 塩胡椒網膜症 | 夜盲症 | 発作性不随意性眼球運動 | 網膜色素上皮喪失 | 脈絡膜の異常 | 色覚異常 | 視覚誘発電位の異常 | 黄斑変性 | 黄斑無形成/低形成 | 黄斑色素の異常" ] }, { "id": "NANDO:2200032", "label_en": "Hemophagocytic lymphohistiocytosis", "label_ja": "血球貪食性リンパ組織球症", "yomigana": "けっきゅうどんしょくせいりんぱそしききゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200032", "notificationNumber": "45", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201106", "label_en": "Familial central diabetes insipidus", "label_ja": "家族性中枢性尿崩症", "yomigana": "かぞくせいちゅうすうせいにょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201106", "notificationNumber": "72", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201525", "label_en": "Schaaf-Yang syndrome", "label_ja": "シャーフ・ヤング症候群", "yomigana": "しゃーふ・やんぐ しょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201525", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abdominal obesity | Abnormal facial shape | Abnormal rapid eye movement sleep | Abnormality of the eye | Abnormality of the philtrum | Absence of pubertal development | Absent speech | Almond-shaped palpebral fissure | Arthrogryposis multiplex congenita | Atrial septal defect | Atypical behavior | Autistic behavior | Autosomal dominant inheritance | Borderline intellectual disability | Brachydactyly | Camptodactyly | Central hypothyroidism | Central sleep apnea | Chronic constipation | Clitoral hypoplasia | Coarse facial features | Cognitive impairment | Compulsive behaviors | Congenital onset | Constipation | Cryptorchidism | Decreased fetal movement | Decreased testicular size | Delayed speech and language development | Diminished deep tendon reflex | Downturned corners of mouth | Esotropia | External genital hypoplasia | Failure to thrive | Failure to thrive in infancy | Feeding difficulties | Fetal akinesia sequence | Flexion contracture | Floppy infant | Frontal bossing | Gastroesophageal reflux | Global developmental delay | Hip dysplasia | Hypogonadism | Hypopigmentation of hair | Hypopigmentation of the skin | Hypoplastic labia minora | Hypothalamic luteinizing hormone-releasing hormone deficiency | Impaired temperature sensation | Impulsivity | Inability to walk | Increased body weight | Infantile onset | Infertility | Intellectual disability | Kyphosis | Lethargy | Low-set ears | Mandibular prognathia | Micropenis | Mild intellectual disability | Motor delay | Myopia | Narrow forehead | Narrow nasal bridge | Narrow palm | Neonatal hypotonia | Neonatal onset | Neurodevelopmental delay | Obesity | Obstructive sleep apnea | Open mouth | Osteopenia | Osteoporosis | Polyphagia | Poor suck | Precocious puberty | Premature pubarche | Primary amenorrhea | Psychosis | Recurrent respiratory infections | Retrognathia | Rocker bottom foot | Scoliosis | Seizure | Short foot | Short palpebral fissure | Short stature | Skin-picking | Sleep apnea | Small hand | Small pituitary gland | Small scrotum | Specific learning disability | Strabismus | Tapered finger | Temperature instability | Thick eyebrow | Thin upper lip vermilion | Type II diabetes mellitus | Ventriculomegaly | Weak cry | Xerostomia" ], "symptoms_ja_list": [ "II 型糖尿病 | アーモンド型眼瞼裂 | 下顎後退 | 下顎突出 | 不妊 | 中枢性甲状腺機能低下症 | 中枢性睡眠時無呼吸 | 乳児期の成長障害 (成長不全) | 乳児筋性筋緊張低下 | 人中の異常 | 低身長 | 体温不安定 | 体重増加 | 便秘 | 停留精巣 | 側弯 | 先天性多発性関節拘縮 | 先細りの指 | 全般性発達遅滞 | 内斜視 | 分厚い眉毛 | 前頭突出", "額突出 | 原発性無月経 | 反復性呼吸器感染症 | 口内乾燥症 | 口角下垂 | 吸啜不全 | 外性器低形成 | 小さい下垂体 | 小さい手 | 小陰唇低形成 | 小陰茎 | 屈指 | 屈曲拘縮 | 常染色体顕性遺伝 | 弱い泣き声 | 強迫性行動 | 後弯 | 心房中隔欠損 | 思春期早発 | 思春期発達欠損 | 性腺機能低下症 | 恥毛早発 | 慢性便秘 | 成長障害 (成長不全) | 揺り椅子状足底 | 斜視 | 新生児筋緊張低下 | 歩行不能 | 毛髪低色素 | 温度覚障害 | 無気力 | 特異的学習障害 | 狭い手掌 | 狭い額 | 狭い鼻梁 | 異常な急速眼球運動 (REM) 睡眠 | 異常な顔の形 | 発作 | 発語および言語発達遅延 | 発語欠損 | 皮膚ピッキング | 皮膚低色素 | 眼の異常 | 睡眠時無呼吸 | 知的障害 | 知的障害", "境界域 | 知的障害", "軽度 | 短い眼瞼裂 | 短い足 | 短指症候群 | 神経発生遅延 | 粗な顔貌 | 精巣サイズ減少 | 精神病 | 耳介低位 | 股関節異形成 | 肥満 | 胃食道逆流 | 胎児無動シークェンス | 胎動減少 | 脳室拡大 | 腱反射減少 | 腹部肥満 | 自閉性行動 | 薄い上口唇唇紅部 | 行動異常 | 衝動性 | 視床下部黄体形成ホルモン遊離ホルモン欠乏症 | 認知障害 | 近視 | 運動発達遅滞 | 過食症 | 閉塞性睡眠時無呼吸 | 開口 | 陰嚢低形成 | 陰核低形成 | 食餌摂取障害 | 骨減少症 | 骨粗鬆症" ] }, { "id": "NANDO:1200520", "label_en": "Dystonia 9", "label_ja": "DYT9ジストニア", "yomigana": "でぃーわいてぃー9じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200520", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormal pyramidal tract morphology | Autosomal dominant inheritance | Bilateral tonic-clonic seizure | Choreoathetosis | Cognitive impairment | Diplopia | Dysarthria | Dyskinesia | Dystonia | Episodic ataxia | Headache | Hyperreflexia | Intellectual disability | Migraine | Paresthesia | Paroxysmal dyskinesia | Spastic paraplegia" ], "symptoms_ja_list": [ "ジスキネジア | ジストニア | 偏頭痛 | 全身性間代性強直性発作 | 反射亢進 | 常染色体顕性遺伝 | 感覚異常 | 構音障害 | 痙性対麻痺 | 発作性ジスキネジア | 知的障害 | 舞踏病アテトーゼ | 複視 | 認知障害 | 運動失調エピソード | 錐体路の形態異常 | 錐体路運動機能の異常 | 頭痛" ] }, { "id": "NANDO:1201154", "label_en": "Woodhouse-Sakati syndrome", "label_ja": "Woodhouse-Sakati症候群", "yomigana": "うっどはうす-さかてぃしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201154", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal T-wave | Abnormal spermatogenesis | Abnormality of extrapyramidal motor function | Alopecia | Anodontia | Aplasia/Hypoplasia of the eyebrow | Autosomal recessive inheritance | Bilateral sensorineural hearing impairment | Choreoathetosis | Decreased response to growth hormone stimulation test | Decreased serum estradiol | Decreased testicular size | Delayed puberty | Delayed skeletal maturation | Diabetes mellitus | Dysarthria | Dystonia | Elevated circulating thyroid-stimulating hormone concentration | Fine hair | Growth delay | Hallucinations | Hearing impairment | Hypergonadotropic hypogonadism | Hyperinsulinemia | Hyperlipidemia | Hypogonadism | Hypogonadotropic hypogonadism | Hypoplasia of the fallopian tube | Hypoplasia of the uterus | Hypothyroidism | Insulin-resistant diabetes mellitus | Intellectual disability | Mental deterioration | Micropenis | Mild intellectual disability | Osteopenia | Premature ovarian insufficiency | Prominent nasal bridge | Prominent nose | Protruding ear | Psychosis | Sensorineural hearing impairment | Sparse hair | Streak ovary | Triangular face" ], "symptoms_ja_list": [ "インスリン抵抗性糖尿病 | ジストニア | 三角形の顔 | 両側性感音難聴 | 低ゴナドトロピン性性腺機能低下症 | 卵管低形成 | 子宮低形成 | 小陰茎 | 常染色体潜性遺伝 | 幻覚 | 心電図: T-波異常 | 思春期遅発 | 性腺機能低下症 | 感音難聴 | 成長ホルモン欠乏症 | 成長遅滞 | 早発性卵巣不全 | 構音障害 | 無歯 | 甲状腺刺激ホルモン過剰症 | 甲状腺機能低下症 | 疎な毛髪 | 目立つ鼻 | 目立つ鼻梁 | 眉毛の無形成/低形成 | 知的障害 | 知的障害", "軽度 | 知能悪化 | 禿頭 | 精子形成異常 | 精巣サイズ減少 | 精神病 | 糖尿病 | 索状卵巣 | 細い毛髪 | 耳介聳立 | 舞踏病アテトーゼ | 血清エストラジオール減少 | 錐体外路運動機能の異常 | 難聴 | 骨格骨化遅延 | 骨減少症 | 高インスリン血症 | 高ゴナドトロピン性性腺機能低下症 | 高脂血症" ] }, { "id": "NANDO:1200137", "label_en": "Schindler disease type 3", "label_ja": "シンドラー病III型", "yomigana": "しんどらーびょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200137", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Autism | Cataract | Global developmental delay | Hepatomegaly | Hypertrophic cardiomyopathy | Intellectual disability | Seizure | Strabismus" ], "symptoms_ja_list": [ "全般性発達遅滞 | 斜視 | 発作 | 白内障 | 知的障害 | 肝腫 | 肥大型心筋症 | 自閉症" ] }, { "id": "NANDO:0000001", "label_en": "Intractable disease", "label_ja": "難病", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_0000001", "notificationNumber": "", "obsolete": 1, "category": "other", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200654", "label_en": "May-Hegglin anomaly", "label_ja": "メイ・ヘグリン異常症", "yomigana": "めい・へぐりんいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200654", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100193", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201002", "label_en": "Xeroderma pigmentosum", "label_ja": "色素性乾皮症", "yomigana": "しきそせいかんぴしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201002", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100286", "symptoms_en_list": [ "Abnormality of extrapyramidal motor function | Abnormality of the dentition | Alopecia | Aminoaciduria | Ankyloblepharon | Arthralgia | Ataxia | Blepharitis | Cataract | Cerebral cortical atrophy | Cognitive impairment | Conjunctival telangiectasia | Craniofacial hyperostosis | Cryptorchidism | Cutaneous photosensitivity | Decreased testicular size | Delayed skeletal maturation | Dermal atrophy | Developmental regression | Diminished deep tendon reflex | Dry skin | EEG abnormality | Ectropion | Entropion | Erythema | Failure to thrive | Fatigue | Fever | Flat nasal alae | Freckling | Hearing impairment | Hyperkeratosis | Hypermelanotic macule | Hypogonadism | Hypopigmented skin patches | Intellectual disability | Keratitis | Macule | Melanocytic nevus | Melanoma | Microcephaly | Neoplasm | Neoplasm of the eye | Opacification of the corneal stroma | Optic atrophy | Papilloma | Peripheral neuropathy | Photophobia | Poikiloderma | Pterygium | Seizure | Sensorineural hearing impairment | Short stature | Spasticity | Strabismus | Telangiectasia | Telangiectasia of the skin | Thickened skin | Thin skin" ], "symptoms_ja_list": [ "アミノ酸尿 | メラニン増加性斑 | メラニン細胞母斑 | 乳頭腫 | 乾いた皮膚 | 低色素性皮膚斑 | 低身長 | 停留精巣 | 内反(眼瞼) | 分厚い皮膚 | 外反(眼瞼) | 多形皮膚萎縮症 (ポイキロデルマ) | 大脳皮質萎縮 | 小頭 | 平坦な鼻翼 | 性腺機能低下症 | 感音難聴 | 成長障害 (成長不全) | 斑 | 斜視 | 新生物 | 末梢神経ニューロパチー | 歯の異常 | 毛細血管拡張 | 疲労 | 痙性 | 発作 | 発熱 | 発達退行 | 白内障 | 皮膚光線過敏症 | 皮膚毛細血管拡張 | 皮膚萎縮 | 眼新生物 | 眼瞼炎 | 眼瞼癒着 | 知的障害 | 禿頭 | 精巣サイズ減少 | 紅斑 | 結膜毛細血管拡張 | 羞明 | 翼状片 | 脳波異常 | 腱反射減少 | 色素斑 | 薄い皮膚 | 視神経萎縮 | 角膜炎 | 角膜間質混濁形成 | 認知障害 | 運動失調 | 過角化症 | 錐体外路運動機能の異常 | 関節痛 | 難聴 | 頭蓋顔面過骨症 | 骨格骨化遅延 | 黒色腫" ] }, { "id": "NANDO:1201112", "label_en": "Bleeding disorder with abnormal fibrinolysis", "label_ja": "出血性線溶異常症", "yomigana": "しゅっけつせいせんよういじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201112", "notificationNumber": "347", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200004", "label_en": "Spinal muscular atrophy type I", "label_ja": "脊髄性筋萎縮症I型", "yomigana": "せきずいせいきんいしゅくしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200004", "notificationNumber": "3", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Areflexia | Atrial septal defect | Autosomal recessive inheritance | Death in childhood | Decreased fetal movement | EMG: neuropathic changes | Generalized hypotonia | Infantile onset | Neonatal onset | Poor head control | Proximal amyotrophy | Proximal lower limb muscle weakness | Recurrent respiratory infections | Respiratory failure | Respiratory insufficiency | Spinal muscular atrophy | Tongue fasciculations | Ventricular septal defect" ], "symptoms_ja_list": [ "下肢の近位筋虚弱 | 全身性筋緊張低下 | 反復性呼吸器感染症 | 呼吸不全 | 常染色体潜性遺伝 | 心室中隔欠損 | 心房中隔欠損 | 無反射 | 筋電図: 神経症変化 | 胎動減少 | 脊髄性筋萎縮 | 舌線維束性収縮 | 近位筋萎縮 | 頸定不全" ] }, { "id": "NANDO:2200319", "label_en": "Idiopathic growth hormone deficiency", "label_ja": "特発性成長ホルモン分泌不全性低身長症", "yomigana": "とくはつせいせいちょうほるもんぶんぴつふぜんせいていしんちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200319", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100113", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201273", "label_en": "α-thalassemia", "label_ja": "α - サラセミア", "yomigana": "あるふぁさらせみあ", "url": "http://nanbyodata.jp/ontology/NANDO_2201273", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [ "Abnormal hemoglobin | Abnormality of immune system physiology | Anemia | Anisopoikilocytosis | Cholelithiasis | Cognitive impairment | Congestive heart failure | Extramedullary hematopoiesis | Generalized edema | Hemoglobin Barts | Hemolytic anemia | Hepatosplenomegaly | Hydrops fetalis | Hypersplenism | Hypochromic microcytic anemia | Jaundice | Malar prominence | Microcytic anemia | Myelodysplasia | Pericardial effusion | Pleural effusion | Reduced alpha/beta synthesis ratio | Reticulocytosis | Splenomegaly" ], "symptoms_ja_list": [ "α/β合成比の減少 | うっ血性心不全 | ヘモグロビン Barts | ヘモグロビン異常 | 低色素性小球性貧血 | 免疫系生理の異常 | 全身性浮腫 | 大小不同生奇形赤血球 (Anisopoikilocytosis) | 小球性貧血 | 心外膜滲出液 | 溶血性貧血 | 網状赤血球増多症 | 肝脾腫 | 胆石症 | 胎児水腫 | 胸膜滲出液 | 脾機能亢進 | 脾腫 | 認知障害 | 貧血 | 頬突出 | 骨髄異形成 | 髄外造血 | 黄疸" ] }, { "id": "NANDO:1200944", "label_en": "Usher syndrome Type III", "label_ja": "アッシャー症候群3型", "yomigana": "あっしゃーしょうこうぐん3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200944", "notificationNumber": "303", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal cochlea morphology | Abnormal electroretinogram | Abnormal vestibular function | Anxiety | Depression | Iris hypopigmentation | Nyctalopia | Rod-cone dystrophy | Scotoma | Sensorineural hearing impairment | Vestibular hyporeflexia | Visual loss" ], "symptoms_ja_list": [ "うつ | 不安 | 前庭機能低下 | 前庭機能障害 | 夜盲症 | 感音難聴 | 暗点 | 網膜電図異常 | 色素性網膜炎 | 虹彩低色素 | 蝸牛の異常 | 視力喪失" ] }, { "id": "NANDO:2100186", "label_en": "Polycythemia vera", "label_ja": "真性多血症", "yomigana": "しんせいたけつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100186", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201218", "label_en": "Juvenile Krabbe disease", "label_ja": "若年型クラッベ病", "yomigana": "じゃくねんがたくらっべびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201218", "notificationNumber": "114", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200010", "label_en": "Parkinson's disease", "label_ja": "パーキンソン病", "yomigana": "ぱーきんそんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200010", "notificationNumber": "6", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200452", "label_en": "IL36RN deficiency", "label_ja": "IL36RN欠損症", "yomigana": "あいえる36あーるえぬけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200452", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Autosomal recessive inheritance | Childhood onset | Elevated circulating C-reactive protein concentration | Erythema | Fever | Furrowed tongue | Increased total leukocyte count | Increased total neutrophil count | Infantile onset | Juvenile onset | Nail dystrophy | Neonatal onset | Parakeratosis | Polyarticular arthritis | Psoriasiform dermatitis | Pustule | Young adult onset" ], "symptoms_ja_list": [ "CRP 上昇 | 不全角化症 | 乾癬 | 多関節関節炎 | 好中球増多症 | 常染色体潜性遺伝 | 溝舌 | 爪ジストロフィー | 発熱 | 白血球増多症 | 紅斑 | 膿疱" ] }, { "id": "NANDO:1200422", "label_en": "Desquamative interstitial pneumonia", "label_ja": "剥離型間質性肺炎 ", "yomigana": "はくりがたかんしつせいはいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200422", "notificationNumber": "85", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Autosomal recessive inheritance | Cor pulmonale | Cough | Cyanosis | Desquamative interstitial pneumonitis | Failure to thrive | Infantile onset | Recurrent upper respiratory tract infections | Respiratory distress | Respiratory failure | Tachypnea | Tubulointerstitial fibrosis" ], "symptoms_ja_list": [ "チアノーゼ | 代謝/ホメオスターシスの異常 | 剥離性間質性肺炎 | 反復性上気道感染症 | 呼吸不全 | 呼吸窮迫 | 外層 | 多呼吸 | 尿細管間質 線維症 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 肺性心" ] }, { "id": "NANDO:2201515", "label_en": "Hereditary hypokalemic periodic paralysis", "label_ja": "遺伝性低カリウム性周期性四肢麻痺", "yomigana": "いでんせいていかりうむせいしゅうきせいししまひ", "url": "http://nanbyodata.jp/ontology/NANDO_2201515", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100307", "symptoms_en_list": [ "Abnormal muscle fiber morphology | Adrenocortical adenoma | Arrhythmia | Diminished deep tendon reflex | EMG abnormality | Episodic flaccid weakness | Episodic hypokalemia | Exercise-induced muscle fatigue | Fatty replacement of skeletal muscle | Impaired myocardial contractility | Increased intramyocellular lipid droplets | Late-onset proximal muscle weakness | Mildly elevated creatine kinase | Muscle spasm | Myotonia | Pain | Paralysis | Periodic hypokalemic paresis | Postprandial hyperglycemia | Respiratory insufficiency due to muscle weakness | Respiratory paralysis" ], "symptoms_ja_list": [ "creatine phosphokinase の軽度上昇 | ミオトニア | 不整脈 | 低カリウム血症エピソード | 副腎皮質腺腫 | 周期性低カルシウム血症性不全麻痺 | 呼吸麻痺 | 弛緩性虚弱エピソード | 心筋収縮障害 | 疼痛 | 筋けいれん | 筋細胞内脂肪滴増加 | 筋線維の異常 | 筋虚弱による呼吸不全 | 筋電図異常 | 腱反射減少 | 遅発性近位筋虚弱 | 運動誘発性筋疲労 | 食後高血糖 | 骨格筋脂肪浸潤 | 麻痺" ] }, { "id": "NANDO:2100204", "label_en": "Immunodeficiency", "label_ja": "免疫不全を伴う特徴的な症候群", "yomigana": "めんえきふぜんをともなうとくちょうてきなしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100204", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200331", "label_en": "Thyroid agenesis", "label_ja": "無甲状腺症", "yomigana": "むこうじょうせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200331", "notificationNumber": "30", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [ "Abdominal distention | Abnormality of the face | Coarse facial features | Constipation | Excessive daytime somnolence | Facial edema | Fatigue | Feeding difficulties | Global developmental delay | Growth delay | Hoarse cry | Hypothyroidism | Hypotonia | Large fontanelles | Lethargy | Macroglossia | Muscle weakness | Prolonged neonatal jaundice | Severe intellectual disability | Short stature | Thyroid agenesis | Umbilical hernia | Unconjugated hyperbilirubinemia" ], "symptoms_ja_list": [ "不抱合型高ビリルビン血症 | 低身長 | 便秘 | 全般性発達遅滞 | 嗜眠 | 大きな泉門 | 巨舌 | 成長遅滞 | 無気力 | 甲状腺機能低下症 | 甲状腺無発生 | 疲労 | 知的障害", "重度 | 筋緊張低下 | 筋虚弱 | 粗い泣き声 | 粗な顔貌 | 腹部膨満 | 臍ヘルニア | 遷延性新生児黄疸 | 顔の異常 | 顔面浮腫 | 食餌摂取障害" ] }, { "id": "NANDO:2200360", "label_en": "Addison's disease", "label_ja": "アジソン病", "yomigana": "あじそんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200360", "notificationNumber": "85", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100128", "symptoms_en_list": [ "Abnormal skin pigmentation | Abnormality of the cardiovascular system | Adrenal hypoplasia | Adrenal insufficiency | Apnea | Autosomal recessive inheritance | Cyanosis | Feeding difficulties in infancy | Hyperkalemia | Hypoglycemia | Hyponatremia | Seizure | Vomiting" ], "symptoms_ja_list": [ "チアノーゼ | 低ナトリウム血症 | 低血糖 | 副腎不全 | 副腎低形成 | 嘔吐 | 常染色体潜性遺伝 | 心血管系 | 無呼吸 | 発作 | 皮膚色素の異常 | 食餌摂取障害 in infancy | 高カリウム血症" ] }, { "id": "NANDO:2201251", "label_en": "Addison-only adrenoleukodystrophy", "label_ja": "アジソン型副腎白質ジストロフィー", "yomigana": "あじそんがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201251", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200738", "label_en": "obsolete End-stage membranoproliferative glomerulonephritis type I", "label_ja": "obsolete 終末期型膜性増殖性糸球体腎炎", "yomigana": "しゅうまつきがたまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200738", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200810", "label_en": "HIV infection", "label_ja": "ヒト免疫不全ウイルス", "yomigana": "ひとめんえきふぜんういるす", "url": "http://nanbyodata.jp/ontology/NANDO_2200810", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100212", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201010", "label_en": "Diffuse cutaneous systemic sclerosis", "label_ja": "びまん皮膚硬化型全身性強皮症", "yomigana": "びまんひふこうかがたぜんしんせいきょうひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201010", "notificationNumber": "51", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormality of the skin | Arthralgia | Arthritis | Autoimmunity | Carious teeth | Congestive heart failure | Dysphagia | Dyspnea | Flexion contracture | Gastroesophageal reflux | Hypertensive crisis | Malabsorption | Muscle weakness | Narrow foramen obturatorium | Nausea and vomiting | Oliguria | Osteolysis | Pulmonary arterial hypertension | Pulmonary fibrosis | Pulmonary infiltrates | Renal insufficiency | Skin ulcer | Telangiectasia of the skin | Xerostomia" ], "symptoms_ja_list": [ "うっ血性心不全 | 乏尿 | 口内乾燥症 | 吐気と 嘔吐 | 吸収障害 | 呼吸困難 | 嚥下障害 | 屈曲拘縮 | 狭い閉鎖孔 | 皮膚の異常 | 皮膚毛細血管拡張 | 皮膚潰瘍 | 筋虚弱 | 肺浸潤 | 肺線維症 | 肺高血圧 | 胃食道逆流 | 腎不全 | 自己免疫 | 関節炎 | 関節痛 | 骨融解 | 高血圧クライシス | 齲歯" ] }, { "id": "NANDO:1200492", "label_en": "Emery-Dreifuss muscular dystrophy", "label_ja": "エメリー・ドレイフス型筋ジストロフィー", "yomigana": "えめりー・どれいふすがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200492", "notificationNumber": "113", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Achilles tendon contracture | Atrioventricular block | Back pain | Decreased cervical spine flexion due to contractures of posterior cervical muscles | Dilated cardiomyopathy | Diminished deep tendon reflex | EMG: myopathic abnormalities | Elbow flexion contracture | Elevated circulating LDL-C concentration | Elevated circulating creatine kinase activity | Gait disturbance | Hyperlordosis | Hypertriglyceridemia | Hypertrophic cardiomyopathy | Hypotonia | Ichthyosis | Intellectual disability | Joint stiffness | Kyphosis | Limb-girdle muscular dystrophy | Lipodystrophy | Myopathy | Myotonia | Obesity | Pectus excavatum | Proximal lower limb amyotrophy | Proximal lower limb muscle weakness | Proximal upper limb amyotrophy | Proximal upper limb muscle weakness | Ptosis | Respiratory insufficiency due to muscle weakness | Rimmed vacuoles | Scapular winging | Scoliosis | Spinal rigidity | Sprengel anomaly | Sudden cardiac death | Supraventricular arrhythmia | Type 1 muscle fiber atrophy | Ventricular escape rhythm | Vocal cord paralysis | Waddling gait" ], "symptoms_ja_list": [ "1型筋線維萎縮 | Sprengel 奇形 | よたつき歩行 | アキレス腱拘縮 | ミオトニア | ミオパチー | リポジストロフィー | 上室性不整脈 | 上肢の近位筋虚弱 | 下肢の近位筋虚弱 | 側弯 | 前弯 | 声帯麻痺 | 後弯 | 後頚部筋拘縮による頚椎屈曲減少 | 心室性補充調律 | 房室ブロック | 拡張型心筋症 | 歩行障害 | 漏斗胸 | 眼瞼下垂 | 知的障害 | 突然心臓死 | 筋緊張低下 | 筋虚弱による呼吸不全 | 筋電図: ミオパチー異常 | 縁取り空胞 | 翼状肩甲骨 | 肘屈曲拘縮 | 肢帯筋ジストロフィー | 肥大型心筋症 | 肥満 | 背部痛 | 脊椎強直 | 腱反射減少 | 血清 creatine phosphokinase上昇 | 近位上肢筋萎縮 | 近位下肢筋萎縮 | 関節拘縮 | 高βリポタンパク血症 | 高トリグリセリド血症 | 魚鱗癬" ] }, { "id": "NANDO:1200915", "label_en": "Type I cystic biliary atresia", "label_ja": "Icyst型胆道閉鎖症", "yomigana": "1しすとがたたんどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200915", "notificationNumber": "296", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200089", "label_en": "Type 3 Farber disease", "label_ja": "軽症型ファーバー病", "yomigana": "けいしょうがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200089", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200520", "label_en": "Fumarase deficiency", "label_ja": "フマラーゼ欠損症", "yomigana": "ふまらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200520", "notificationNumber": "88", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal corpus callosum morphology | Abnormal speech pattern | Agenesis of corpus callosum | Aminoaciduria | Anteverted nares | Ascites | Autosomal recessive inheritance | Bilateral fetal pyelectasis | Cerebral atrophy | Cerebral hypomyelination | Cerebral visual impairment | Choroid plexus cyst | Cleft ala nasi | Coma | Cutaneous leiomyoma | Decreased fumarate hydratase activity | Decreased total neutrophil count | Delayed myelination | Depressed nasal bridge | Dystonia | Encephalopathy | Failure to thrive | Failure to thrive in infancy | Feeding difficulties in infancy | Frontal bossing | Generalized hypotonia | Global developmental delay | Hepatic failure | Hepatomegaly | High palate | Hyperammonemia | Hyperbilirubinemia | Hypertelorism | Hypoglycemia | Hypoplasia of the brainstem | Hypotonia | Hypsarrhythmia | Increased urine alpha-ketoglutarate concentration | Infantile spasms | Intrahepatic cholestasis | Intrauterine growth retardation | Lactic acidosis | Lethargy | Lissencephaly | Metabolic acidosis | Microcephaly | Oligohydramnios | Open operculum | Optic atrophy | Pallor | Perimembranous ventricular septal defect | Polycythemia | Polyhydramnios | Polymicrogyria | Poor head control | Premature birth | Profound intellectual disability | Reduced eye contact | Reduced subcutaneous adipose tissue | Relative macrocephaly | Seizure | Status epilepticus | Tented upper lip vermilion | Ventriculomegaly | Visual impairment | Vomiting" ], "symptoms_ja_list": [ "fumarate hydratase活性の減少 | てんかん重積 | アミノ酸尿 | ジストニア | テント状上口唇唇紅部 | ヒプスアリスミア | 上向きの鼻孔 | 両側性胎児性腎盂拡張症 | 両眼隔離 | 乳児スパスム | 乳児期の成長障害 (成長不全) | 乳酸性アシドーシス | 代謝性アシドーシス | 低血糖 | 全般性発達遅滞 | 全身性筋緊張低下 | 前頭突出", "額突出 | 嘔吐 | 多小脳回 | 多血症 | 大脳白質の異常 | 大脳萎縮 | 大脳髄鞘低形成 | 好中球減少症 | 子宮内成長遅滞 | 小頭 | 尿中αケトグルタル酸濃度増加 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 早産 | 昏睡 | 比較的大頭 | 滑脳症 | 無気力 | 発作 | 皮下脂肪組織減少 | 皮膚横紋筋腫 | 皮質性視力障害 | 眼があわない | 知的障害", "最重度 | 神経学的発語障害 | 筋緊張低下 | 羊水過多 | 羊水過少 | 肝不全 | 肝内胆汁うっ滞 | 肝腫 | 脈絡膜叢嚢胞 | 脳室拡大 | 脳幹低形成 | 脳梁の異常 | 脳梁無発生 of | 脳症 | 腹水 | 膜様部周囲心室中隔欠損 | 落ちくぼんだ鼻梁 | 蒼白 | 視力障害 | 視神経萎縮 | 開放性弁蓋 | 頸定不全 | 食餌摂取障害 in infancy | 髄鞘形成遅延 | 高アンモニア血症 | 高ビリルビン血症 | 高口蓋 | 鼻翼裂" ] }, { "id": "NANDO:2200470", "label_en": "Tyrosinemia type 3", "label_ja": "高チロシン血症3型", "yomigana": "こうちろしんけっしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200470", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "4-Hydroxyphenylpyruvic aciduria | 4-hydroxyphenylacetic aciduria | Autosomal recessive inheritance | Elevated circulating hepatic transaminase concentration | Global developmental delay | Hypertyrosinemia | Infantile onset | Mild intellectual disability | Neonatal onset | Seizure | Severe intellectual disability" ], "symptoms_ja_list": [ "4-ヒドロキシフェニルピルビン酸尿 | 4-ヒドロキシフェニル酢酸尿 | 全般性発達遅滞 | 常染色体潜性遺伝 | 発作 | 知的障害", "軽度 | 知的障害", "重度 | 肝トランスアミナーゼ上昇 | 高チロシン血症" ] }, { "id": "NANDO:2200641", "label_en": "obsolete Atypical hemolytic uremic syndrome", "label_ja": "obsolete 非典型溶血性尿毒症症候群", "yomigana": "ひてんけいようけつせいにょうどくしょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200641", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200118", "label_en": "Sialidosis type 2", "label_ja": "シアリドーシスII型", "yomigana": "しありどーしす2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200118", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal bone marrow cell morphology | Abnormal facial shape | Abnormal macular morphology | Abnormality of metabolism/homeostasis | Abnormality of movement | Abnormality of the skeletal system | Ascites | Ataxia | Autosomal recessive inheritance | Bone-marrow foam cells | Cardiomegaly | Cardiomyopathy | Cataract | Cherry red spot of the macula | Coarse facial features | Corneal opacity | Death in childhood | Delayed speech and language development | Dysmetria | Dysostosis multiplex | Dysphonia | Dyspnea | Epiphyseal stippling | Facial edema | Flexion contracture | Generalized hypotonia | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrops fetalis | Hyperreflexia | Hypotonia | Increased urinary O-linked sialopeptides | Infantile onset | Inguinal hernia | Intellectual disability | Kyphosis | Muscle weakness | Myoclonus | Nephropathy | Nephrotic syndrome | Nystagmus | Osteoporosis | Pectus carinatum | Pedal edema | Pericardial effusion | Progressive visual loss | Proteinuria | Renal insufficiency | Seizure | Sensorineural hearing impairment | Severe intellectual disability | Short stature | Short thorax | Skeletal muscle atrophy | Slurred speech | Splenomegaly | Tremor | Umbilical hernia | Urinary excretion of sialylated oligosaccharides | Vacuolated lymphocytes" ], "symptoms_ja_list": [ "はと胸 | シアル化オリゴ糖の尿中排泄 | ネフローゼ症候群 | ミオクローヌス | 不明瞭言語 | 代謝/ホメオスターシスの異常 | 低身長 | 全般性発達遅滞 | 全身性筋緊張低下 | 反射亢進 | 呼吸困難 | 多発性異骨症 | 尿中 O-linked sialopeptides 増加 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弯 | 心外膜滲出液 | 心拡大 | 心筋症 | 感音難聴 | 振戦 | 浮腫 (下肢) | 測定障害 | 異常な顔の形 | 発作 | 発語および言語発達遅延 | 発音障害 | 白内障 | 眼振 | 知的障害 | 知的障害", "重度 | 短い胸郭 | 空胞化リンパ球 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗な顔貌 | 肝腫 | 胎児水腫 | 脾腫 | 腎不全 | 腎症 | 腹水 | 臍ヘルニア | 蛋白尿 | 角膜混濁 | 進行性視力喪失 | 運動の異常 | 運動失調 | 難聴 | 顔面浮腫 | 骨格の異常 | 骨端点状石灰化 | 骨粗鬆症 | 骨髄泡沫細胞 | 骨髄細胞形態の異常 | 黄斑のチェリーレッド斑 | 黄斑の異常 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200133", "label_en": "Aspartylglucosaminuria", "label_ja": "アスパルチルグルコサミン尿症", "yomigana": "あすぱるちるぐるこさみんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200133", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cortical bone morphology | Abnormal facial shape | Abnormal speech pattern | Abnormal vertebral morphology | Abnormality of amino acid metabolism | Abnormality of metabolism/homeostasis | Abnormality of the dentition | Acne | Angiokeratoma corporis diffusum | Anterior beaking of lumbar vertebrae | Anteverted nares | Arthritis | Aspartylglucosaminuria | Atypical behavior | Autosomal recessive inheritance | Beaking of vertebral bodies | Brachycephaly | Broad face | Carious teeth | Cataract | Cerebral atrophy | Childhood onset | Chronic otitis media | Coarse facial features | Decreased total neutrophil count | Delayed skeletal maturation | Delayed speech and language development | Depressed nasal bridge | Developmental regression | Diarrhea | Dyskinesia | Dysostosis multiplex | Generalized hypotonia | Gingival overgrowth | Hepatomegaly | Hernia | Hoarse voice | Hypertelorism | Hypoplastic frontal sinuses | Hypotonia | Inguinal hernia | Intellectual disability | Joint hypermobility | Joint stiffness | Kyphosis | Large face | Macroglossia | Macroorchidism | Malabsorption | Mandibular prognathia | Microcephaly | Microtia | Mitral regurgitation | Pathologic fracture | Pectus carinatum | Pes planus | Platyspondyly | Recurrent respiratory infections | Scoliosis | Seizure | Short nose | Short stature | Sleep disturbance | Spasticity | Splenomegaly | Spondylolisthesis | Spondylolysis | Thick lower lip vermilion | Thick vermilion border | Thickened calvaria | Umbilical hernia | Vacuolated lymphocytes | Vascular skin abnormality | Wide mouth | Wide nasal bridge" ], "symptoms_ja_list": [ "?瘡 | くちばし状椎体骨 | はと胸 | びまん性体部被角血管腫 | アスパルチルグルコサミン尿 | アミノ酸代謝の異常 | ジスキネジア | ヘルニア | 上向きの鼻孔 | 下痢 | 下顎突出 | 両眼隔離 | 代謝/ホメオスターシスの異常 | 低身長 | 側弯 | 僧帽弁逆流 | 全身性筋緊張低下 | 分厚い下口唇唇紅部 | 分厚い唇紅部縁 | 分厚い頭蓋冠 | 前頭洞低形成 | 反復性呼吸器感染症 | 吸収障害 | 嗄声 | 多発性異骨症 | 大きな顔 | 大脳萎縮 | 好中球減少症 | 小耳 | 小頭 | 巨大精巣 | 巨舌 | 常染色体潜性遺伝 | 幅広い口 | 幅広い顔 | 幅広い鼻梁 | 後弯 | 慢性中耳炎 | 扁平脊椎 | 扁平足 | 歯の異常 | 歯肉過成長 | 異常な顔の形 | 病的骨折 | 痙性 | 発作 | 発語および言語発達遅延 | 発達退行 | 白内障 | 睡眠障害 | 知的障害 | 短い鼻 | 短頭 | 神経学的発語障害 | 空胞化リンパ球 | 筋緊張低下 | 粗な顔貌 | 肝腫 | 脊椎すべり症 | 脊椎の異常 | 脊椎分離症 | 脾腫 | 腰椎のくちばし状前方突出 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 血管皮膚異常 | 行動異常 | 関節拘縮 | 関節炎 | 関節過動 | 骨格骨化遅延 | 骨皮質形態異常 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:1201028", "label_en": "Acute Neuro-Behçet's disease", "label_ja": "急性型神経ベーチェット病", "yomigana": "きゅうせいがたしんけいべーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201028", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201166", "label_en": "Xeroderma pigmentosum-Cockayne syndrome", "label_ja": "コケイン症候群合併型", "yomigana": "こけいんしょうこうぐんがっぺいがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201166", "notificationNumber": "192", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormality of amino acid metabolism | Arteriosclerosis | Ataxia | Basal cell carcinoma | Cachexia | Confusion | Cutaneous photosensitivity | Demyelinating peripheral neuropathy | Dermal atrophy | Diplopia | Dry skin | Dysarthria | Global developmental delay | Hearing impairment | Hydrocephalus | Intellectual disability | Melanoma | Microcephaly | Numerous pigmented freckles | Nystagmus | Optic atrophy | Poikiloderma | Prematurely aged appearance | Retinopathy | Short stature | Skin rash | Spasticity | Squamous cell carcinoma of the skin | Urticaria" ], "symptoms_ja_list": [ "アミノ酸代謝の異常 | 乾いた皮膚 | 低身長 | 全般性発達遅滞 | 動脈硬化 | 基底細胞癌 | 多形皮膚萎縮症 (ポイキロデルマ) | 多数の色素斑 | 小頭 | 悪液質 (カヘキシー) | 早老外観 | 構音障害 | 水頭症 | 痙性 | 皮膚光線過敏症 | 皮膚基底細胞癌 | 皮膚発疹 | 皮膚萎縮 | 眼振 | 知的障害 | 網膜症 | 脱髄性末梢運動神経ニューロパチー | 蕁麻疹 | 複視 | 視神経萎縮 | 運動失調 | 錯乱 | 難聴 | 黒色腫" ] }, { "id": "NANDO:2200929", "label_en": "Primary sclerosing cholangitis", "label_ja": "原発性硬化性胆管炎", "yomigana": "げんぱつせいこうかせいたんかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200929", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100263", "symptoms_en_list": [ "Abdominal pain | Abnormal biliary tract morphology | Abnormal eosinophil morphology | Abnormal large intestine physiology | Acute hepatic failure | Amyloid deposition | Ascites | Autoimmunity | Celiac disease | Cholelithiasis | Cholestasis | Chronic hepatic failure | Cirrhosis | Congestive heart failure | Decreased circulating vitamin D concentration | Decreased circulating vitamin E concentration | Decreased circulating vitamin K concentration | Depression | Elevated alkaline phosphatase of hepatic origin | Elevated circulating hepatic transaminase concentration | Encephalopathy | Fatigue | Fever | Generalized amyotrophy | Hepatic fibrosis | Hepatitis | Hepatocellular carcinoma | Hepatomegaly | Hepatosplenomegaly | Histiocytosis | Hypoalbuminemia | Jaundice | Neoplasm of the gallbladder | Osteopenia | Osteoporosis | Palmar telangiectasia | Pancreatitis | Pleural effusion | Polyclonal elevation of circulating IgM concentration | Portal hypertension | Prolonged prothrombin time | Pruritus | Recurrent systemic pyogenic infections | Reduced circulating vitamin A concentration | Renal insufficiency | Spider hemangioma | Splenomegaly | Thyroiditis | Type I diabetes mellitus | Ulcerative colitis | Uveitis | Weight loss" ], "symptoms_ja_list": [ "I 型糖尿病 | うっ血性心不全 | うつ | くも状血管腫 | アミロイドーシス | セリアック秒 | ビタミンA欠乏症 | ビタミンD欠乏症 | ビタミンE欠乏症 | ビタミンK欠乏症 | ブドウ膜炎 | プロトロンビン時間遷延 | ポリクローナル IgM 上昇 | 体重喪失 | 全身性筋萎縮 | 反復性全身性化膿性感染症 | 好酸球の異常 | 急性肝不全 | 慢性肝不全 | 手掌毛細血管拡張 | 掻痒 | 潰瘍性大腸炎 | 甲状腺炎 | 異常な大腸生理 | 異常な胆道形態 | 疲労 | 発熱 | 組織球症 | 肝トランスアミナーゼ上昇 | 肝炎 | 肝由来アルカリホスファターゼ上昇 | 肝硬変 | 肝細胞癌 | 肝線維症 | 肝脾腫 | 肝腫 | 胆嚢新生物 | 胆汁うっ滞 | 胆石症 | 胸膜滲出液 | 脳症 | 脾腫 | 腎不全 | 腹水 | 腹痛 | 膵炎 | 自己免疫 | 門脈圧亢進 | 骨減少症 | 骨粗鬆症 | 高アルブミン血症 | 黄疸" ] }, { "id": "NANDO:2201065", "label_en": "Dilated type Takayasu arteritis", "label_ja": "拡張型高安動脈炎", "yomigana": "かくちょうがたたかやすどうみゃくえん", "url": "http://nanbyodata.jp/ontology/NANDO_2201065", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100153", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100008", "label_en": "Chronic kidney disease", "label_ja": "慢性腎疾患", "yomigana": "まんせいじんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100008", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201108", "label_en": "Methylmalonic acidemia CblD type", "label_ja": "コバラミン代謝異常 cblD", "yomigana": "こばらみんたいしゃいじょう しーびーえるでぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201108", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormality of movement | Anorexia | Atypical behavior | Autosomal recessive inheritance | Brisk reflexes | Cerebral cortical atrophy | Childhood onset | Decreased circulating adenosylcobalamin concentration | Decreased circulating methylcobalamin concentration | Decreased methionine synthase activity | Decreased methylmalonyl-CoA mutase activity | Dysmetria | Dystonia | Ectopia lentis | Encephalopathy | Failure to thrive | Fatigue | Feeding difficulties | Gait disturbance | Generalized hypotonia | Global developmental delay | Homocystinuria | Horizontal nystagmus | Hyperhomocystinemia | Hypomethioninemia | Hypotonia | Increased mean corpuscular volume | Infantile onset | Intellectual disability | Lethargy | Megaloblastic anemia | Megaloblastic bone marrow | Methylmalonic acidemia | Methylmalonic aciduria | Moderate intellectual disability | Nystagmus | Pallor | Psychosis | Seizure | Spastic ataxia" ], "symptoms_ja_list": [ "methylmalonyl-CoA mutase 活性の減少 | アデノシルコバラミンの減少 | ジストニア | ホモシスチン尿 | メチオニン合成酵素活性の減少 | メチルコバラミンの減少 | メチルマロン酸尿 | メチルマロン酸血症 | 低メチオニン血症 | 全般性発達遅滞 | 全身性筋緊張低下 | 反射活発 | 大脳皮質萎縮 | 巨大赤血球症 | 巨赤芽球性貧血 | 巨赤芽球性骨髄 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 歩行障害 | 水平性眼振 | 測定障害 | 無気力 | 異所性水晶体 | 疲労 | 痙性失調 | 発作 | 眼振 | 知的障害 | 知的障害", "中道動脈瘤 | 筋緊張低下 | 精神病 | 脳症 | 蒼白 | 行動異常 | 運動の異常 | 食思不振 | 食餌摂取障害 | 高ホモシスチン血症" ] }, { "id": "NANDO:2200812", "label_en": "Chronic graft-versus-host disease", "label_ja": "慢性移植片対宿主病", "yomigana": "まんせいいしょくへんたいしゅくしゅびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200812", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100213", "symptoms_en_list": [ "Abdominal pain | Abnormal esophagus morphology | Abnormal skin pigmentation | Abnormal vagina morphology | Airway obstruction | Alopecia | Anorexia | Arthralgia | Arthritis | Ascites | Bronchiectasis | Bronchiolitis obliterans | Chest pain | Cough | Diarrhea | Dysphagia | Dyspnea | Elevated circulating hepatic transaminase concentration | Entrapment neuropathy | Erythema | Esophageal stricture | Esophageal ulceration | Fasciitis | Flexion contracture | Food intolerance | Gastroesophageal reflux | Hematuria | Intermittent generalized erythematous papular rash | Keratoconjunctivitis sicca | Morphea | Muscle weakness | Myalgia | Nail dystrophy | Nausea | Onycholysis | Pain | Pancytopenia | Phimosis | Photophobia | Pleural effusion | Pneumothorax | Poor wound healing | Pulmonary infiltrates | Recurrent corneal erosions | Recurrent infections | Skin ulcer | Skin vesicle | Thickened skin | Urinary bladder inflammation | Weight loss | Xerostomia" ], "symptoms_ja_list": [ "下痢 | 乾燥性 | 体重喪失 | 傷治癒不全 | 共通 | 分厚い皮膚 | 反復性感染症 | 反復性角膜びらん | 口内乾燥症 | 吐気 | 呼吸困難 | 嚥下障害 | 外層 | 屈曲拘縮 | 斑状強皮症 | 方形 | 気管支拡張 | 気胸 | 汎血球減少症 | 爪ジストロフィー | 爪剥離症 | 疼痛 | 皮膚小水疱 | 皮膚潰瘍 | 皮膚色素の異常 | 禿頭 | 筋痛 | 筋膜炎 | 筋虚弱 | 紅斑 | 絞扼神経障害 | 羞明 | 肝トランスアミナーゼ上昇 | 肺浸潤 | 胃食道逆流 | 胸膜滲出液 | 腹水 | 腹痛 | 膀胱炎症 | 膣異常 | 血尿 | 閉塞性細気管支炎 | 閉塞性肺疾患 | 間歇的全身性紅斑性丘疹 | 関節炎 | 関節痛 | 食思不振 | 食物不耐性 | 食道の異常 | 食道潰瘍 | 食道胸抱く" ] }, { "id": "NANDO:2200871", "label_en": "Multicore disease", "label_ja": "マルチコア病", "yomigana": "まるちこあびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200871", "notificationNumber": "53", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100234", "symptoms_en_list": [ "Abnormal muscle fiber morphology | Arthrogryposis multiplex congenita | Distal muscle weakness | EMG abnormality | External ophthalmoplegia | Failure to thrive | Generalized hypotonia | Joint hypermobility | Joint stiffness | Malignant hyperthermia | Minicore myopathy | Muscular dystrophy | Myopathy | Proximal lower limb muscle weakness | Proximal upper limb muscle weakness | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Scoliosis | Short stature | Spinal rigidity | Strabismus" ], "symptoms_ja_list": [ "ミオパチー | ミニコア (マルチコア) ミオパチー | 上肢の近位筋虚弱 | 下肢の近位筋虚弱 | 低身長 | 側弯 | 先天性多発性関節拘縮 | 全身性筋緊張低下 | 呼吸不全 | 外眼筋麻痺 | 悪性高体温症 | 成長障害 (成長不全) | 斜視 | 筋ジストロフィー | 筋線維の異常 | 筋虚弱による呼吸不全 | 筋電図異常 | 脊椎強直 | 遠位筋虚弱 | 関節拘縮 | 関節過動" ] }, { "id": "NANDO:2100181", "label_en": "Autoimmune hemolytic anemia", "label_ja": "自己免疫性溶血性貧血", "yomigana": "じこめんえきせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2100181", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Autoimmune hemolytic anemia | Autosomal recessive inheritance" ], "symptoms_ja_list": [ "代謝/ホメオスターシスの異常 | 常染色体潜性遺伝 | 自己免疫性溶血性貧血" ] }, { "id": "NANDO:2200301", "label_en": "Tricuspid valve regurgitation", "label_ja": "三尖弁閉鎖不全症", "yomigana": "さんせんべんへいさふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200301", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100105", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201497", "label_en": "Idiopathic syringomyelia, unspecified", "label_ja": "いずれにも該当しない特発性脊髄空洞症", "yomigana": "いずれにもがいとうしないとっぱつせいせきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201497", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200924", "label_en": "IPEX syndrome", "label_ja": "IPEX症候群", "yomigana": "あいぺっくすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200924", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100260", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal circulating electrolyte concentration | Abnormal intestine morphology | Abnormality of the endocrine system | Allergy | Alopecia | Anemia | Arthritis | Autoimmune hemolytic anemia | Autoimmune neutropenia | Autoimmune thrombocytopenia | Autoimmunity | Cachexia | Chronic diarrhea | Colitis | Coombs-positive hemolytic anemia | Crusting erythematous dermatitis | Decreased total neutrophil count | Eczematoid dermatitis | Elevated circulating hepatic transaminase concentration | Erythroderma | Failure to thrive | Failure to thrive in infancy | Gastritis | Global developmental delay | Glomerulonephritis | Hepatitis | Hyperthyroidism | Hypoalbuminemia | Hypocalcemia | Hypomagnesemia | Hypothyroidism | Ileus | Immune dysregulation | Increased circulating IgE concentration | Increased total eosinophil count | Infantile onset | Inflammatory abnormality of the skin | Interstitial pneumonitis | Iron deficiency anemia | Lymphadenopathy | Malabsorption | Membranous nephropathy | Meningitis | Myositis | Nail dystrophy | Nephrotic syndrome | Osteomyelitis | Pneumonia | Psoriasiform dermatitis | Recurrent infections | Recurrent respiratory infections | Recurrent skin infections | Respiratory distress | Secretory diarrhea | Seizure | Sepsis | Splenomegaly | Thrombocytopenia | Thyroiditis | Tubulointerstitial nephritis | Type I diabetes mellitus | Urticaria | Ventriculomegaly | Villous atrophy | Vomiting | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Coombs 陽性溶血性貧血 | I 型糖尿病 | IgE 値増加 | X連鎖潜性遺伝 | アレルギー | イレウス | ネフローゼ症候群 | リンパ節腫大 | 乳児期の成長障害 (成長不全) | 乾癬 | 低カルシウム血症 | 低マグネシウム血症 | 免疫調節障害 | 全般性発達遅滞 | 内分泌系異常 | 分泌性下痢 | 反復性呼吸器感染症 | 反復性感染症 | 反復性皮膚感染症 | 吸収障害 | 呼吸窮迫 | 嘔吐 | 好中球減少症 | 好酸球増多症 | 尿細管間質性腎炎 | 悪液質 (カヘキシー) | 慢性下痢 | 成長障害 (成長不全) | 敗血症 | 湿疹 | 爪ジストロフィー | 甲状腺機能亢進症 | 甲状腺機能低下症 | 甲状腺炎 | 異常な皮膚水泡 | 痂皮性紅斑性皮膚炎 | 発作 | 皮膚の炎症性異常 | 禿頭 | 筋炎 | 糸球体腎炎 | 紅皮症 | 結腸炎 | 絨毛萎縮 | 肝トランスアミナーゼ上昇 | 肝炎 | 肺炎 | 胃炎 | 脳室拡大 | 脾腫 | 腸の異常 | 膜性腎症 | 自己免疫 | 自己免疫性好中球減少症 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 蕁麻疹 | 血小板減少 | 貧血 | 鉄ホメオスターシスの異常 | 鉄欠乏症貧血 | 間質性肺臓炎 | 関節炎 | 骨髄炎 | 髄膜炎 | 高アルブミン血症" ] }, { "id": "NANDO:1200833", "label_en": "Glycogen storage diseases type XI", "label_ja": "筋型糖原病XI型", "yomigana": "きんがたとうげんびょう11がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200833", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal delivery | Acute kidney injury | Autosomal recessive inheritance | Chronic kidney disease | Easy fatigability | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Elevated creatine kinase after exercise | Exercise intolerance | Exercise-induced myalgia | Exercise-induced myoglobinuria | Exercise-induced rhabdomyolysis | Heat intolerance | Hypercalcemia | Increased circulating lactate concentration | Increased circulating pyruvate concentration | Intermittent generalized erythematous papular rash | Juvenile onset | Muscle spasm | Muscle stiffness | Myalgia | Myoglobinuria | Parakeratosis | Pruritus | Pustule | Regional abnormality of skin | Renal insufficiency | Rhabdomyolysis | Rigidity" ], "symptoms_ja_list": [ "ミオグロビン尿 | 不全角化症 | 常染色体潜性遺伝 | 急性腎外傷 | 慢性腎疾患 | 掻痒 | 易疲労性 | 横紋筋融解 | 熱不耐性 | 異常な分娩 | 皮膚の領域性異常 | 硬直 | 筋けいれん | 筋痛 | 筋硬直 | 肝トランスアミナーゼ上昇 | 腎不全 | 膿疱 | 血清 creatine phosphokinase上昇 | 血清ピルビン酸増加 | 血清乳酸増加 | 運動不耐症 | 運動後の creatine kinase 上昇 | 運動誘発性ミオグロビン尿 | 運動誘発性横紋筋融解 | 運動誘発性筋痛 | 間歇的全身性紅斑性丘疹 | 高カルシウム血症" ] }, { "id": "NANDO:1200413", "label_en": "Tuberculous Addison's disease", "label_ja": "結核性アジソン病", "yomigana": "けっかくせいあじそんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200413", "notificationNumber": "83", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200768", "label_en": "Epidermodysplasia verruciformis", "label_ja": "疣贅状表皮発育異常症", "yomigana": "ゆうぜいじょうひょうひはついくいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200768", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Abnormality of the immune system | Hypopigmented skin patches | Multiple cafe-au-lait spots | Papule | Pustule | Recurrent skin infections | Seborrheic dermatitis | Skin plaque | Squamous cell carcinoma | Telangiectasia of the skin | Verrucae" ], "symptoms_ja_list": [ "丘疹 | 低色素性皮膚斑 | 免疫系の異常 | 反復性皮膚感染症 | 基底細胞癌 | 多発性カフェオーレ斑 | 疣贅 | 皮膚局面 | 皮膚毛細血管拡張 | 脂漏性皮膚炎 | 膿疱" ] }, { "id": "NANDO:1200482", "label_en": "Centronuclear myopathy", "label_ja": "中心核ミオパチー", "yomigana": "ちゅうしんかくみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200482", "notificationNumber": "111", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200437", "label_en": "Budd-Chiari syndrome", "label_ja": "バッド・キアリ症候群", "yomigana": "ばっど・きありしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200437", "notificationNumber": "91", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abdominal pain | Acute hepatic failure | Adult onset | Ascites | Autosomal recessive inheritance | Budd-Chiari syndrome | Cholecystitis | Cirrhosis | Elevated circulating alkaline phosphatase concentration | Elevated circulating hepatic transaminase concentration | Esophageal varix | Fever | Gastrointestinal hemorrhage | Gastrointestinal infarctions | Hepatic encephalopathy | Hepatocellular carcinoma | Hepatomegaly | Intestinal obstruction | Jaundice | Malabsorption | Peritonitis | Portal hypertension | Renal insufficiency | Splenomegaly | Weight loss" ], "symptoms_ja_list": [ "Budd-Chiari 症候群 | アルカリホスファターゼ上昇 | 体重喪失 | 吸収障害 | 常染色体潜性遺伝 | 急性肝不全 | 発熱 | 肝トランスアミナーゼ上昇 | 肝性脳症 | 肝硬変 | 肝細胞癌 | 肝腫 | 胃腸出血 | 胃腸梗塞 | 胆嚢炎 | 脾腫 | 腎不全 | 腸閉塞 | 腹水 | 腹痛 | 腹膜炎 | 門脈圧亢進 | 食道静脈瘤 | 黄疸" ] }, { "id": "NANDO:2200018", "label_en": "Mixed phenotype acute leukemia", "label_ja": "混合型急性白血病", "yomigana": "こんごうがたきゅうせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200018", "notificationNumber": "85", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201210", "label_en": "Gaucher disease type 1", "label_ja": "ゴーシェ病1型", "yomigana": "ごーしぇびょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201210", "notificationNumber": "115", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abdominal pain | Abnormal bleeding | Abnormal pulmonary interstitial morphology | Abnormality of coagulation | Abnormality of the eye | Anemia | Anorexia | Aortic valve stenosis | Ascites | Autosomal recessive inheritance | Avascular necrosis | Biliary tract obstruction | Bone pain | Bruising susceptibility | Cholelithiasis | Cirrhosis | Decreased beta-glucocerebrosidase level | Decreased circulating HDL-C concentration | Decreased total leukocyte count | Delayed puberty | Delayed skeletal maturation | Depression | Dyspnea | Epistaxis | Erlenmeyer flask deformity of the femurs | Gingival bleeding | Growth delay | Hematuria | Hepatic failure | Hepatomegaly | Hepatosplenomegaly | Hyperpigmentation of the skin | Hypersplenism | Hypertension | Increased circulating ferritin concentration | Increased circulating immunoglobulin concentration | Macular atrophy | Mitral regurgitation | Multiple myeloma | Osteoarthritis | Osteolysis | Osteopenia | Osteoporosis | Pancytopenia | Parkinsonism | Pathologic fracture | Portal hypertension | Pulmonary arterial hypertension | Pulmonary infiltrates | Sensorimotor neuropathy | Short stature | Spinal cord compression | Splenic rupture | Splenomegaly | Thrombocytopenia | Vertebral compression fracture" ], "symptoms_ja_list": [ "β-グルコセレブロシダーゼタンパクと活性の減少 | うつ | パーキンソン症候群 | 低身長 | 僧帽弁逆流 | 凝固の異常 | 出血傾向 | 呼吸困難 | 多発性骨髄腫 | 大動脈弁狭窄 | 大腿骨のErlenmeyer フラスコ変形 | 常染色体潜性遺伝 | 思春期遅発 | 感覚運動ニューロパチー | 成長遅滞 | 歯肉出血 | 汎血球減少症 | 無菌性壊死 | 異常な出血 | 病的骨折 | 白血球減少症 | 皮膚高色素 | 眼の異常 | 肝不全 | 肝硬変 | 肝脾腫 | 肝腫 | 肺浸潤 | 肺高血圧 | 胆石症 | 胆管閉塞 | 脊椎圧迫骨折 | 脊髄圧迫 | 脾機能亢進 | 脾破裂 | 脾腫 | 腹水 | 腹痛 | 血小板減少 | 血尿 | 血清フェリチン増加 | 貧血 | 門脈圧亢進 | 間質性肺疾患 | 非炎症性黄斑萎縮 | 食思不振 | 骨格骨化遅延 | 骨減少症 | 骨痛 | 骨粗鬆症 | 骨融解 | 骨関節炎 | 高αリポ蛋白血症 | 高ガンマグロブリン血症 | 高血圧 | 鼻出血" ] }, { "id": "NANDO:1200509", "label_en": "Myelomeningocele", "label_ja": "脊髄髄膜瘤", "yomigana": "せきずいずいまくりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_1200509", "notificationNumber": "118", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200865", "label_en": "Becker muscular dystrophy", "label_ja": "ベッカー型筋ジストロフィー", "yomigana": "べっかーがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200865", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [ "Abnormal EKG | Abnormal urinary color | Abnormality of the lower limb | Adult onset | Arrhythmia | Calf muscle pseudohypertrophy | Cardiomyopathy | Difficulty climbing stairs | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Exercise intolerance | Falls | Fatigue | Gait disturbance | Hyporeflexia | Muscle spasm | Muscle weakness | Muscular dystrophy | Myalgia | Myoglobinuria | Pes planus | Skeletal muscle atrophy | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | ミオグロビン尿 | 下肢の異常 | 不整脈 | 反射低下 | 尿色異常 | 心筋症 | 心電図異常 | 扁平足 | 歩行障害 | 疲労 | 筋けいれん | 筋ジストロフィー | 筋痛 | 筋萎縮 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 腓腹筋仮性肥大 | 血清 creatine phosphokinase上昇 | 転倒 | 運動不耐症 | 階段の登り困難" ] }, { "id": "NANDO:2200708", "label_en": "ICF syndrome", "label_ja": "ICF症候群", "yomigana": "あいしーえふしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200708", "notificationNumber": "45", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [ "Abnormality of chromosome stability | Abnormality of neutrophils | Anemia | Cellular immunodeficiency | Communicating hydrocephalus | Decreased circulating immunoglobulin concentration | Decreased total lymphocyte count | Depressed nasal bridge | Epicanthus | Flat face | Global developmental delay | Hypertelorism | Immunodeficiency | Intellectual disability | Low-set ears | Macrocephaly | Macroglossia | Malabsorption | Micrognathia | Protruding tongue | Recurrent respiratory infections | Short stature | Umbilical hernia" ], "symptoms_ja_list": [ "リンパ球減少症 | 両眼隔離 | 交通性水頭症 | 低ガンマグロブリン血症 | 低身長 | 免疫不全 | 全般性発達遅滞 | 内眼角贅皮 | 反復性呼吸器感染症 | 吸収障害 | 大頭 | 好中球の異常 | 小顎 | 巨舌 | 平坦な顔 | 染色体安定性の異常 | 知的障害 | 細胞免疫不全 | 耳介低位 | 臍ヘルニア | 舌挺出 | 落ちくぼんだ鼻梁 | 貧血" ] }, { "id": "NANDO:2201288", "label_en": "Pelizaeus-Merzbacher disease", "label_ja": "ペリツェウス・メルツバッハ病", "yomigana": "ぺりつぇうす・めるつばっはびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201288", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Abnormal CNS myelination | Abnormal pyramidal sign | Abnormal speech pattern | Abnormality of movement | Abnormality of the urinary system | Abnormality of visual evoked potentials | Apathy | Arteriovenous malformation | Ataxia | Atypical behavior | Bowel incontinence | Broad-based gait | CNS hypomyelination | Cachexia | Cerebellar vermis atrophy | Cerebral cortical atrophy | Cerebral dysmyelination | Choreoathetosis | Cognitive impairment | Congenital laryngeal stridor | Delayed speech and language development | Depression | Developmental regression | Dysarthria | Dysphagia | Dystonia | Failure to thrive | Failure to thrive in infancy | Gait disturbance | Generalized dystonia | Global brain atrophy | Global developmental delay | Head titubation | Hearing impairment | Hyporeflexia | Hypotonia | Inability to walk | Infantile onset | Intellectual disability | Intention tremor | Joint stiffness | Kyphosis | Mental deterioration | Microcephaly | Nystagmus | Optic atrophy | Peripheral neuropathy | Premature birth | Progressive spastic quadriplegia | Psychomotor deterioration | Recurrent respiratory infections | Reduction of oligodendroglia | Respiratory insufficiency | Rotary nystagmus | Scanning speech | Scoliosis | Seizure | Short stature | Slowly progressive | Spastic paraplegia | Spasticity | Sudanophilic leukodystrophy | Tremor | Urinary urgency | Vertical supranuclear gaze palsy | Visual impairment | Writer's cramp | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うつ | ジストニア | ズダン好性ロイコジストロフィー | 中枢神経髄鞘形成低下 | 乏突起膠細胞減少 | 乳児期の成長障害 (成長不全) | 企図振戦 | 低身長 | 側弯 | 先天性喉頭喘鳴 | 全般性発達遅滞 | 全般性脳萎縮 | 全身性ジストニア | 動静脈奇形 | 反射低下 | 反復性呼吸器感染症 | 呼吸不全 | 嚥下障害 | 回転性眼振 | 垂直性核上性注視麻痺 | 大脳皮質萎縮 | 大脳髄鞘形成異常症 | 小脳虫部萎縮 | 小頭 | 尿意切迫 | 尿路異常 | 幅広歩行 | 後弯 | 悪液質 (カヘキシー) | 成長障害 (成長不全) | 手揺動 | 振戦 | 断綴言 | 早産 | 書痙 | 末梢神経ニューロパチー | 構音障害 | 歩行不能 | 歩行障害 | 無関心", "感情鈍磨 | 異常な中枢神経髄鞘形成 | 痙性 | 痙性対麻痺 | 発作 | 発語および言語発達遅延 | 発達退行 | 眼振 | 知的障害 | 知能悪化 | 神経学的発語障害 | 筋緊張低下 | 精神運動発達悪化 | 舞踏病アテトーゼ | 行動異常 | 視力障害 | 視神経萎縮 | 視覚誘発電位の異常 | 認知障害 | 進行性痙性四肢麻痺 | 運動の異常 | 運動失調 | 遺糞症 | 錐体路運動機能の異常 | 関節拘縮 | 難聴" ] }, { "id": "NANDO:1200396", "label_en": "Congenital adrenal enzyme deficiency", "label_ja": "先天性副腎皮質酵素欠損症", "yomigana": "せんてんせいふくじんひしつこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200396", "notificationNumber": "81", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100194", "label_en": "Essential thrombocythemia", "label_ja": "本態性血小板血症", "yomigana": "ほんたいせいけっしょうばんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100194", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200367", "label_en": "Polycystic kidney disease", "label_ja": "多発性嚢胞腎", "yomigana": "たはつせいのうほうじん", "url": "http://nanbyodata.jp/ontology/NANDO_1200367", "notificationNumber": "67", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200802", "label_en": "Urea cycle disorder", "label_ja": "尿素サイクル異常症", "yomigana": "にょうそさいくるいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200802", "notificationNumber": "251", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200368", "label_en": "Autosomal dominant polycystic kidney disease", "label_ja": "常染色体優性多発性嚢胞腎", "yomigana": "じょうせんしょくたいゆうせいたはつせいのうほうじん", "url": "http://nanbyodata.jp/ontology/NANDO_1200368", "notificationNumber": "67", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Abnormal systemic arterial morphology | Abnormal urinary electrolyte concentration | Albuminuria | Aortic root aneurysm | Arachnoid cyst | Calcium oxalate nephrolithiasis | Chronic kidney disease | Decreased glomerular filtration rate | Dilatation of the cerebral artery | Elevated circulating creatinine concentration | Enlarged kidney | Hematuria | Hepatic cysts | Hypertension | Mitral valve prolapse | Pancreatic cysts | Pituitary growth hormone cell adenoma | Polycystic liver disease | Pyelonephritis | Recurrent urinary tract infections | Reduced sperm motility | Renal cyst | Renal insufficiency | Stage 5 chronic kidney disease | Uric acid nephrolithiasis" ], "symptoms_ja_list": [ "くも膜嚢胞 | アルブミン尿 | ステージ5慢性腎疾患 | 下垂体成長ホルモン細胞腺腫 | 僧帽弁逸脱 | 全身動脈枝の異常 | 反復性尿路感染症 | 多嚢胞性肝疾患 | 大動脈基部拡大 | 大脳動脈瘤 | 尿中電解質濃度異常 | 尿酸腎結石 | 慢性腎疾患 | 精子運動減少 | 糸球体濾過率減少 | 肝膿瘍 | 腎不全 | 腎嚢胞 | 腎拡大 | 腎盂腎炎 | 膵膿瘍 | 蓚酸カルシウム腎結石 | 血尿 | 血清クレアチン症状 | 高血圧" ] }, { "id": "NANDO:1200652", "label_en": "obsolete Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome", "label_ja": "obsolete デルマタン4-O-硫酸基転移酵素-1欠損型エーラス・ダンロス症候群", "yomigana": "でるまたん4おーりゅうさんきてんいこうそ1けっそんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200652", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200195", "label_en": "Subacute sclerosing panencephalitis", "label_ja": "亜急性硬化性全脳炎", "yomigana": "あきゅうせいこうかせいぜんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200195", "notificationNumber": "24", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal brain choline/creatine ratio by MRS | Abnormality of extrapyramidal motor function | Akinetic mutism | Ataxia | Atypical behavior | Autosomal recessive inheritance | Brain atrophy | CSF pleocytosis | Chorioretinitis | Delusion | Dementia | Depression | Dyskinesia | Dystonia | EEG with periodic complexes | Gait disturbance | Hallucinations | Infectious encephalitis | Irritability | Lethargy | Loss of speech | Mental deterioration | Myoclonus | Papilledema | Reduced brain N-acetyl aspartate level by MRS | Retinal hemorrhage | Seizure | Sleep disturbance | Spasticity | Ventriculomegaly | Visual loss" ], "symptoms_ja_list": [ "Dementia | MRSによる異常な脳コリン/クレアチン比 | MRSによる脳 N-acetyl aspartate 値現象 | うつ | ジスキネジア | ジストニア | ミオクローヌス | 乳頭浮腫 | 周期性複合を伴う脳波 | 妄想 | 常染色体潜性遺伝 | 幻覚 | 歩行障害 | 無動性無言症 | 無気力 | 異常な自律神経生理 | 痙性 | 発作 | 発語喪失 | 睡眠障害 | 知能悪化 | 網膜出血 | 脈絡膜網膜炎 | 脳室拡大 | 脳炎 | 脳萎縮 | 行動異常 | 被刺激性 | 視力喪失 | 運動失調 | 錐体外路運動機能の異常 | 髄液細胞増症" ] }, { "id": "NANDO:2200210", "label_en": "Congenital diaphragmatic hernia", "label_ja": "先天性横隔膜ヘルニア", "yomigana": "せんてんせいおうかくまくへるにあ", "url": "http://nanbyodata.jp/ontology/NANDO_2200210", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100040", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Aplasia/Hypoplasia of the diaphragm | Congenital diaphragmatic hernia | Hypoxemia | Intestinal malrotation | Prominent sternum | Pulmonary hypoplasia | Respiratory distress" ], "symptoms_ja_list": [ "低酸素血症への感受性の減少 | 先天性横隔膜ヘルニア | 呼吸窮迫 | 循環器系の形態異常 | 横隔膜無形成/低形成 | 目立つ胸骨 | 肺低形成 | 腸回転異常" ] }, { "id": "NANDO:2200136", "label_en": "Tubulointerstitial nephritis", "label_ja": "慢性尿細管間質性腎炎", "yomigana": "まんせいにょうさいかんかんしつせいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200136", "notificationNumber": "50", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201019", "label_en": "Hepatic glycogen storage disease type III", "label_ja": "肝型糖原病III型", "yomigana": "かんがたとうげんびょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201019", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Autosomal recessive inheritance | Broad nasal tip | Cardiomyopathy | Deeply set eye | Depressed nasal bridge | Distal amyotrophy | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Full cheeks | Hepatic fibrosis | Hepatomegaly | Hyperlipidemia | Hypertriglyceridemia | Hypoglycemia | Immunodeficiency | Malar flattening | Midface retrusion | Mild intellectual disability | Muscle weakness | Myopathy | Short stature | Thin upper lip vermilion | Thin vermilion border | Ventricular hypertrophy" ], "symptoms_ja_list": [ "ミオパチー | 低血糖 | 低身長 | 免疫不全 | 大きな頬 | 常染色体潜性遺伝 | 幅広い鼻尖 | 平坦な頬 | 心室肥大 | 心筋症 | 知的障害", "軽度 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝線維症 | 肝腫 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 薄い唇紅部縁 | 血清 creatine phosphokinase上昇 | 遠位筋萎縮 | 顔面中部後退 | 高トリグリセリド血症 | 高脂血症" ] }, { "id": "NANDO:2100149", "label_en": "Polycystic ovary syndrome", "label_ja": "多嚢胞性卵巣症候群", "yomigana": "たのうほうせいらんそうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100149", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200489", "label_en": "Becker muscular dystrophy", "label_ja": "ベッカー型筋ジストロフィー", "yomigana": "べっかーがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200489", "notificationNumber": "113", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal EKG | Abnormal urinary color | Abnormality of the lower limb | Adult onset | Arrhythmia | Calf muscle pseudohypertrophy | Cardiomyopathy | Difficulty climbing stairs | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Exercise intolerance | Falls | Fatigue | Gait disturbance | Hyporeflexia | Muscle spasm | Muscle weakness | Muscular dystrophy | Myalgia | Myoglobinuria | Pes planus | Skeletal muscle atrophy | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | ミオグロビン尿 | 下肢の異常 | 不整脈 | 反射低下 | 尿色異常 | 心筋症 | 心電図異常 | 扁平足 | 歩行障害 | 疲労 | 筋けいれん | 筋ジストロフィー | 筋痛 | 筋萎縮 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 腓腹筋仮性肥大 | 血清 creatine phosphokinase上昇 | 転倒 | 運動不耐症 | 階段の登り困難" ] }, { "id": "NANDO:2201164", "label_en": "Glycogen storage disease type IXa", "label_ja": "糖原病IXa型", "yomigana": "とうげんびょう9えーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201164", "notificationNumber": "69", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Childhood onset | Elevated circulating hepatic transaminase concentration | Fatigue | Growth delay | Hepatomegaly | Hypercholesterolemia | Hypertriglyceridemia | Hyperuricemia | Hypoglycemia | Hypotonia | Infantile onset | Juvenile onset | Ketosis | Lactic acidosis | Motor delay | Splenomegaly | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | ケトン症 | 乳酸性アシドーシス | 低血糖 | 成長遅滞 | 疲労 | 筋緊張低下 | 肝トランスアミナーゼ上昇 | 肝腫 | 脾腫 | 運動発達遅滞 | 高コレステロール血症 | 高トリグリセリド血症 | 高尿酸血症" ] }, { "id": "NANDO:1200183", "label_en": "Moyamoya disease", "label_ja": "もやもや病", "yomigana": "もやもやびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200183", "notificationNumber": "22", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Intellectual disability | Seizure | Telangiectasia | Ventriculomegaly" ], "symptoms_ja_list": [ "大脳血管の異常 | 毛細血管拡張 | 発作 | 知的障害 | 脳室拡大" ] }, { "id": "NANDO:1200942", "label_en": "Usher syndrome type I", "label_ja": "アッシャー症候群1型", "yomigana": "あっしゃーしょうこうぐん1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200942", "notificationNumber": "303", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal cochlea morphology | Abnormal electroretinogram | Abnormal vestibular function | Anxiety | Cataract | Delayed speech and language development | Depression | Gait imbalance | Motor delay | Nyctalopia | Peripheral visual field loss | Reduced visual acuity | Rod-cone dystrophy | Scotoma | Sensorineural hearing impairment | Visual loss" ], "symptoms_ja_list": [ "うつ | 不均衡歩行 | 不安 | 中心視力減少 | 前庭機能障害 | 夜盲症 | 感音難聴 | 暗点 | 末梢視野喪失 | 発語および言語発達遅延 | 白内障 | 網膜電図異常 | 色素性網膜炎 | 蝸牛の異常 | 視力喪失 | 運動発達遅滞" ] }, { "id": "NANDO:2200457", "label_en": "SLC29A3 deficiency", "label_ja": "SLC29A3異常症", "yomigana": "えすえるしー29えー3いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200457", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abnormal cardiovascular system physiology | Abnormal eyebrow morphology | Abnormality of the kidney | Alopecia | Alopecia of scalp | Amenorrhea | Anteverted nares | Atrial septal defect | Autosomal recessive inheritance | Azoospermia | Bronchiectasis | Camptodactyly | Camptodactyly of finger | Cardiomegaly | Chronic rhinitis | Cleft upper lip | Corneal arcus | Decreased response to growth hormone stimulation test | Decreased testicular size | Delayed puberty | Delayed skeletal maturation | Diabetes mellitus | Downslanted palpebral fissures | Elbow flexion contracture | Elevated erythrocyte sedimentation rate | Enlarged kidney | Episcleritis | Facial telangiectasia | Fever | Flexion contracture of finger | Flexion contracture of toe | Full cheeks | Gingival overgrowth | Gynecomastia | Hallux valgus | Hearing impairment | Hepatomegaly | Hepatosplenomegaly | Hernia | Histiocytosis | Hydrocephalus | Hypergonadotropic hypogonadism | Hyperpigmentation of the skin | Hyperreflexia | Hypertrichosis | Hypertriglyceridemia | Hypogonadism | Ichthyosis | Joint contracture of the 5th finger | Left superior vena cava draining to coronary sinus | Lipodystrophy | Lymphadenopathy | Malabsorption | Microcytic anemia | Micropenis | Mild intellectual disability | Mitral valve prolapse | Osteolysis | Pancreatic hypoplasia | Patent ductus arteriosus | Pes planus | Proptosis | Psoriasiform dermatitis | Pulmonary arterial hypertension | Pulmonic stenosis | Recurrent fever | Recurrent fractures | Recurrent pharyngitis | Retrognathia | Retroperitoneal fibrosis | Rocker bottom foot | Scleroderma | Sensorineural hearing impairment | Short stature | Splenomegaly | Tibial torsion | Type I diabetes mellitus | Upper eyelid edema | Varicose veins | Ventricular septal defect" ], "symptoms_ja_list": [ "I 型糖尿病 | ヘルニア | リポジストロフィー | リンパ節腫大 | 上口唇裂 | 上向きの鼻孔 | 上強膜炎 | 上眼瞼浮腫 | 下顎後退 | 乾癬 | 低身長 | 僧帽弁逸脱 | 冠状静脈洞に直接流入する左上大静脈 | 動脈管開存症 | 反射亢進 | 反復性咽頭炎 | 反復性骨折 | 吸収障害 | 外反母趾 | 多毛症 | 大きな頬 | 女性型乳房 | 小球性貧血 | 小陰茎 | 屈指 | 常染色体潜性遺伝 | 強皮症 | 後腹膜線維症 | 心室中隔欠損 | 心房中隔欠損 | 心拡大 | 心血管系生理の異常 | 思春期遅発 | 性腺機能低下症 | 感音難聴 | 慢性鼻炎 | 成長ホルモン欠乏症 | 扁平足 | 指屈曲拘縮 | 揺り椅子状足底 | 歯肉過成長 | 気管支拡張 | 水頭症 | 無月経 | 無精子症 | 発熱 | 発熱エピソード | 皮膚高色素 | 眉毛の異常 | 眼球突出 | 眼瞼裂斜下 | 知的障害", "軽度 | 禿頭 | 第5指関節拘縮 | 精巣サイズ減少 | 糖尿病 | 組織球症 | 肘屈曲拘縮 | 肝脾腫 | 肝腫 | 肺動脈狭窄 | 肺高血圧 | 脛骨捻転 | 脾腫 | 腎拡大 | 腎異常 | 膵低形成 | 角膜環 | 赤沈値上昇 | 趾屈曲拘縮 | 難聴 | 静脈瘤 | 頭髪禿頭 | 顔面毛細血管拡張 | 骨格骨化遅延 | 骨融解 | 高ゴナドトロピン性性腺機能低下症 | 高トリグリセリド血症 | 魚鱗癬" ] }, { "id": "NANDO:2200984", "label_en": "MECP2 duplication syndrome", "label_ja": "MECP2重複症候群", "yomigana": "えむいーしーぴー2ちょうふくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200984", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "2-3 toe cutaneous syndactyly | Abnormal speech pattern | Abnormality of chromosome segregation | Absent speech | Anteverted nares | Anxiety | Ataxia | Autistic behavior | Axial hypotonia | Blepharophimosis | Brachycephaly | Bruxism | Chorea | Chronic constipation | Clinodactyly of the 5th finger | Cryptorchidism | Decreased body weight | Delayed skeletal maturation | Depressed nasal bridge | Depression | Developmental regression | Drooling | Dysphagia | Epicanthus | Everted lower lip vermilion | Facial hypotonia | Feeding difficulties | Floppy infant | Gait disturbance | Gastroesophageal reflux | Generalized non-motor (absence) seizure | Global developmental delay | Growth delay | Hernia of the abdominal wall | High palate | Hypospadias | Hypotonia | Inability to walk | Joint stiffness | Low-set ears | Lower limb spasticity | Macrocephaly | Macrotia | Malar flattening | Microcephaly | Midface retrusion | Motor stereotypy | Narrow mouth | Pain insensitivity | Pectus excavatum | Progressive | Progressive spasticity | Prominent nasal bridge | Ptosis | Recurrent infections | Recurrent respiratory infections | Reduced eye contact | Repetitive compulsive behavior | Rigidity | Seizure | Severe global developmental delay | Severe intellectual disability | Short foot | Short stature | Sleep disturbance | Status epilepticus | Tented upper lip vermilion | Upslanted palpebral fissure | Wide nasal bridge | Widely spaced teeth | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うつ | てんかん重積 | テント状上口唇唇紅部 | 上向きの鼻孔 | 下口唇唇紅部外反 | 下肢痙性 | 不安 | 乳児筋性筋緊張低下 | 低身長 | 体幹の筋緊張低下 | 体重減少 | 停留精巣 | 全般性発達遅滞 | 内眼角贅皮 | 反復性呼吸器感染症 | 反復性強迫行動 | 反復性感染症 | 嚥下障害 | 大耳 | 大頭 | 小頭 | 尿道下裂 | 常同行動 | 幅広い鼻梁 | 平坦な頬 | 慢性便秘 | 成長遅滞 | 染色体分離の異常 | 欠神発作 | 歩行不能 | 歩行障害 | 歯ぎしり | 歯間隔離 | 流涎 | 漏斗胸 | 狭い口 | 疼痛不応性 | 発作 | 発語欠損 | 発達退行 | 目立つ鼻梁 | 眼があわない | 眼瞼下垂 | 眼瞼裂斜上 | 眼瞼裂狭小 | 睡眠障害 | 知的障害", "重度 | 短い足 | 短頭 | 硬直 | 神経学的発語障害 | 第2-3 趾皮膚性合趾症 | 第5指弯指 | 筋緊張低下 | 耳介低位 | 胃食道逆流 | 腹壁ヘルニア | 自閉性行動 | 舞踏病 | 落ちくぼんだ鼻梁 | 進行性痙性 | 運動失調 | 重度の全般性発達遅滞 | 関節拘縮 | 顔面中部後退 | 顔面筋緊張低下 | 食餌摂取障害 | 骨格骨化遅延 | 高口蓋" ] }, { "id": "NANDO:1200038", "label_en": "Sporadic spinocerebellar degeneration", "label_ja": "孤発性脊髄小脳変性症", "yomigana": "こはつせいせきずいしょうのうへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200038", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201500", "label_en": "Focal cortical dysplasia type 1b", "label_ja": "限局性皮質異形成タイプ1b", "yomigana": "げんきょくせいひしついけいせいたいぷ1びー", "url": "http://nanbyodata.jp/ontology/NANDO_2201500", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100124", "label_en": "Hypoparathyroidism", "label_ja": "副甲状腺機能低下症", "yomigana": "ふくこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100124", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200703", "label_en": "Other combined immunodeficiencies", "label_ja": "1から9までに掲げるもののほか、複合免疫不全症", "yomigana": "1から9までにかかげるもののほか、ふくごうめんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200703", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100203", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200439", "label_en": "Primary biliary cholangitis", "label_ja": "原発性胆汁性胆管炎", "yomigana": "げんぱつせいたんじゅうせいたんかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200439", "notificationNumber": "93", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abdominal distention | Abnormal circulating lipid concentration | Abnormal intrahepatic bile duct morphology | Abnormality of the thyroid gland | Antinuclear antibody positivity | Ascites | Autoimmunity | Biliary cirrhosis | Celiac disease | Cirrhosis | Conjugated hyperbilirubinemia | Dermatographic urticaria | Elevated circulating alkaline phosphatase concentration | Esophageal varix | Excessive daytime somnolence | Fatigue | Gastrointestinal inflammation | Hepatic encephalopathy | Hepatic failure | Hepatic fibrosis | Hepatitis | Hepatocellular carcinoma | Hepatomegaly | Hypercholesterolemia | Hyperpigmentation of the skin | Hypoalbuminemia | Increased circulating IgA concentration | Increased circulating IgM concentration | Jaundice | Orthostatic hypotension | Osteoporosis | Portal hypertension | Pruritus | Recurrent fungal infections | Sleep disturbance | Splenomegaly | Steatorrhea | Unusual fungal nail infection | Xanthelasma" ], "symptoms_ja_list": [ "IgA 値増加 | IgM 値増加 | アルカリホスファターゼ上昇 | セリアック秒 | 反復性カビ感染症 | 嗜眠 | 抗核抗体陽性 | 抱合型高ビリルビン血症 | 掻痒 | 描画症性蕁麻疹 | 爪真菌症 | 甲状腺異常 | 疲労 | 皮膚高色素 | 睡眠障害 | 肝不全 | 肝内胆管の異常 | 肝性脳症 | 肝炎 | 肝硬変 | 肝細胞癌 | 肝線維症 | 肝腫 | 胃腸炎症 | 胆汁性肝硬変 | 脂肪便 | 脂質代謝の異常 | 脾腫 | 腹水 | 腹部膨満 | 自己免疫 | 起立性低血圧 | 門脈圧亢進 | 食道静脈瘤 | 骨粗鬆症 | 高アルブミン血症 | 高コレステロール血症 | 黄疸 | 黄色板症" ] }, { "id": "NANDO:2200118", "label_en": "Central nervous system malformation syndrome", "label_ja": "中枢神経奇形症候群", "yomigana": "ちゅうすうしんけいきけいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200118", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200005", "label_en": "Spinal muscular atrophy type II", "label_ja": "脊髄性筋萎縮症II型", "yomigana": "せきずいせいきんいしゅくしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200005", "notificationNumber": "3", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal recessive inheritance | Degeneration of anterior horn cells | EMG abnormality | Hand tremor | Muscle weakness | Recurrent respiratory infections | Skeletal muscle atrophy | Spinal muscular atrophy | Tongue fasciculations" ], "symptoms_ja_list": [ "前角細胞変性 | 反復性呼吸器感染症 | 常染色体潜性遺伝 | 手振戦 | 筋萎縮 | 筋虚弱 | 筋電図異常 | 脊髄性筋萎縮 | 舌線維束性収縮" ] }, { "id": "NANDO:1200485", "label_en": "Marinesco-Sjogren syndrome", "label_ja": "マリネスコ・シェーグレン症候群", "yomigana": "まりねすこ・しぇーぐれんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200485", "notificationNumber": "112", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cerebellar vermis morphology | Abnormal circulating aldolase concentration | Abnormal finger morphology | Abnormal metacarpal morphology | Abnormal speech pattern | Aplasia/Hypoplasia involving the skeletal musculature | Areflexia | Ataxia | Autosomal recessive inheritance | Avascular necrosis of the capital femoral epiphysis | Brachydactyly | Cataract | Centrally nucleated skeletal muscle fibers | Cerebellar atrophy | Cerebellar cortical atrophy | Cerebellar hypoplasia | Childhood onset | Coxa valga | Cubitus valgus | Developmental cataract | Dysarthria | Dyskinesia | Dysphonia | Elevated circulating creatine kinase activity | External genital hypoplasia | Failure to thrive | Flexion contracture | Gait ataxia | Global developmental delay | Hip dislocation | Hip dysplasia | Hypergonadotropic hypogonadism | Hypertonia | Hypogonadism | Hyporeflexia | Hypotonia | Infantile onset | Intellectual disability | Kyphosis | Limb ataxia | Metatarsus valgus | Microcephaly | Muscle flaccidity | Muscle stiffness | Muscular dystrophy | Myopathy | Nystagmus | Optic atrophy | Pectus carinatum | Peripheral neuropathy | Pes planus | Progressive muscle weakness | Rigidity | Rimmed vacuoles | Scoliosis | Severe short stature | Short metacarpal | Short metatarsal | Short palm | Short stature | Skeletal muscle atrophy | Spasticity | Specific learning disability | Strabismus" ], "symptoms_ja_list": [ "はと胸 | アルドラーゼ値異常 | ジスキネジア | ミオパチー | 中央核骨格筋線維 | 中手骨形態異常 | 低身長 | 側弯 | 先天性白内障 | 全般性発達遅滞 | 反射低下 | 四肢失調 | 外反肘 | 外反股 | 外性器低形成 | 外転中足骨 | 大腿骨骨頭骨端の無血管性壊死 | 小脳低形成 | 小脳皮質萎縮 | 小脳萎縮 | 小脳虫部の異常 | 小頭 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弯 | 性腺機能低下症 | 成長障害 (成長不全) | 扁平足 | 指の異常 | 斜視 | 末梢神経ニューロパチー | 構音障害 | 歩行失調 | 無反射 | 特異的学習障害 | 痙性 | 発音障害 | 白内障 | 眼振 | 知的障害 | 短い中手骨 | 短い中足骨 | 短い手掌 | 短指症候群 | 硬直 | 神経学的発語障害 | 筋を含む無形成/低形成 | 筋ジストロフィー | 筋弛緩 | 筋硬直 | 筋緊張亢進 | 筋緊張低下 | 筋萎縮 | 縁取り空胞 | 股関節異形成 | 股関節脱臼 | 血清 creatine phosphokinase上昇 | 視神経萎縮 | 進行性筋虚弱 | 運動失調 | 重度の低身長 | 高ゴナドトロピン性性腺機能低下症" ] }, { "id": "NANDO:2200552", "label_en": "Mucopolysaccharidosis type VII", "label_ja": "ムコ多糖症VII型", "yomigana": "むこたとうしょう7がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200552", "notificationNumber": "134", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal heart valve morphology | Abnormal hip bone morphology | Abnormal pleura morphology | Accelerated skeletal maturation | Acetabular dysplasia | Airway obstruction | Anterior beaking of lower thoracic vertebrae | Anterior beaking of lumbar vertebrae | Arteriovenous malformation | Ascites | Autosomal recessive inheritance | Cardiomyopathy | Chronic bronchitis | Coarse facial features | Coarse hair | Corneal opacity | Dermatan sulfate excretion in urine | Diaphyseal undertubulation | Diastasis recti | Dysostosis multiplex | Enlarged thorax | Epicanthus | Epiphyseal stippling | Facial asymmetry | Fetal onset | Flat face | Flexion contracture | Genu valgum | Gingival overgrowth | Hearing impairment | Heparan sulfate excretion in urine | Hepatitis | Hepatomegaly | Hirsutism | Hydrocephalus | Hydrops fetalis | Hypoplasia of the odontoid process | Hypotonia | Infantile onset | Inguinal hernia | Intellectual disability | J-shaped sella turcica | Joint stiffness | Kyphosis | Large iliac wing | Limitation of joint mobility | Lymphedema | Macrocephaly | Macroglossia | Metatarsus adductus | Motor delay | Mucopolysacchariduria | Narrow greater sciatic notch | Neurodegeneration | Obstructive sleep apnea | Pectus carinatum | Pectus excavatum | Photophobia | Platyspondyly | Poor speech | Postnatal growth retardation | Protuberant abdomen | Proximal tapering of metacarpals | Recurrent otitis media | Recurrent respiratory infections | Recurrent upper respiratory tract infections | Scoliosis | Sensorineural hearing impairment | Severe short stature | Short neck | Short stature | Spatulate ribs | Splenomegaly | Talipes equinovarus | Thick eyebrow | Thoracolumbar kyphosis | Umbilical hernia | Urinary glycosaminoglycan excretion | Visual impairment | Widely spaced teeth" ], "symptoms_ja_list": [ "J字型トルコ鞍 | はと胸 | へら状肋骨 | ムコ多糖症 | リンパ性浮腫 | 下部胸椎のくちばし状前方突出 | 中手骨の近位の先細り | 低身長 | 側弯 | 内反尖足 | 内眼角贅皮 | 内転中足骨 | 分厚い眉毛 | 動静脈奇形 | 反復性上気道感染症 | 反復性中耳炎 | 反復性呼吸器感染症 | 外反膝 | 多毛 | 多発性異骨症 | 大きな腸骨翼 | 大頭 | 寛骨の異常 | 寛骨臼異形成 | 尿中グリコサミノグリカン排泄 | 尿中硫酸デルマタン排泄 | 尿中硫酸ヘパラン排泄 | 屈曲拘縮 | 巨舌 | 常染色体潜性遺伝 | 平坦な顔 | 後弯 | 心弁の異常 | 心筋症 | 感音難聴 | 慢性気管支炎 | 扁平脊椎 | 歯状突起低形成 | 歯肉過成長 | 歯間隔離 | 水頭症 | 漏斗胸 | 狭い大仙坐骨切痕 | 生後の成長遅滞 | 発語不全 | 知的障害 | 短い頸部 | 神経変性 | 筋緊張低下 | 粗い毛髪 | 粗な顔貌 | 羞明 | 肝炎 | 肝腫 | 胎児水腫 | 胸腰椎後弯 | 胸膜の異常 | 胸郭拡大 | 脾腫 | 腰椎のくちばし状前方突出 | 腹水 | 腹直筋離開 | 腹部突出 | 臍ヘルニア | 視力障害 | 角膜混濁 | 運動発達遅滞 | 重度の低身長 | 閉塞性睡眠時無呼吸 | 閉塞性肺疾患 | 関節拘縮 | 関節運動制限 | 難聴 | 顔面非対称 | 骨幹の肥厚 | 骨成熟促進 | 骨端点状石灰化 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201486", "label_en": "Pharyngeal stenosis", "label_ja": "咽頭狭窄", "yomigana": "いんとうきょうさく", "url": "http://nanbyodata.jp/ontology/NANDO_2201486", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200959", "label_en": "Beckwith-Wiedemann syndrome", "label_ja": "ベックウィズ・ヴィーデマン症候群", "yomigana": "べっくうぃず・びーでまんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200959", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal earlobe morphology | Abnormal midface morphology | Abnormal pancreas morphology | Abnormal speech pattern | Accelerated skeletal maturation | Adrenocortical carcinoma | Adrenocortical cytomegaly | Anterior creases of earlobe | Asymmetric growth | Autosomal dominant inheritance | Cardiomegaly | Cardiomyopathy | Chiari malformation | Chorioretinal scalloped atrophy | Cleft palate | Coarse facial features | Congenital diaphragmatic hernia | Congenital megaureter | Cryptorchidism | Dandy-Walker malformation | Delayed gross motor development | Diastasis recti | Elevated circulating alpha-fetoprotein concentration | Enlarged kidney | Exocrine pancreatic insufficiency | Facial hemangioma | Feeding difficulties in infancy | Gonadoblastoma | Hearing impairment | Hemihypertrophy | Hepatoblastoma | Hepatomegaly | Hypercalciuria | Hyperinsulinemia | Hypertrophic cardiomyopathy | Hypoglycemia | Hypothyroidism | Infra-orbital crease | Inguinal hernia | Kidney stone | Large fontanelles | Large for gestational age | Large placenta | Leiomyosarcoma | Long umbilical cord | Macroglossia | Mandibular prognathia | Melanocytic nevus | Midface retrusion | Multiple renal cysts | Multiple small medullary renal cysts | Neonatal hypoglycemia | Neoplasm | Nephroblastoma | Nephrocalcinosis | Nephropathy | Neuroblastoma | Neurodevelopmental delay | Nevus flammeus | Obesity | Omphalocele | Otosclerosis | Overgrowth | Overgrowth of external genitalia | Pancreatic hyperplasia | Polycythemia | Polyhydramnios | Postauricular pit | Posterior helix pit | Premature birth | Prominent metopic ridge | Prominent occiput | Proptosis | Pseudohypoparathyroidism | Redundant skin | Renal cortical cysts | Rhabdomyosarcoma | Sleep apnea | Splenomegaly | Tall stature | Thin upper lip vermilion | Umbilical hernia | Ureteral duplication | Urogenital fistula | Vesicoureteral reflux | Visceromegaly | Wide anterior fontanel | Wide mouth" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | Dandy-Walker 奇形 | α-フェトプロテイン上昇 | メラニン細胞母斑 | 下顎突出 | 低血糖 | 停留精巣 | 偽性副甲状腺機能低下症 | 先天性巨大尿管 | 先天性横隔膜ヘルニア | 先天性脈絡膜欠如 | 内臓肥大 | 副腎皮質巨細胞腫 | 副腎皮質癌 | 口蓋裂 | 在胎月齢より大きい児 | 外分泌性膵不全 | 外性器過成長 | 多発性小さい髄質腎嚢胞 | 多発性腎嚢胞 | 多血症 | 大きな泉門 | 大きな骨盤 | 尿管重複 | 巨舌 | 常染色体顕性遺伝 | 幅広い口 | 幅広い大泉門 | 循環器系の形態異常 | 心拡大 | 心筋症 | 性腺芽細胞腫 | 新生児低血糖 | 新生物 | 早産 | 横紋筋肉腫 | 泌尿生殖器瘻 | 火炎状母斑 | 片側肥大 | 甲状腺機能低下症 | 目立つ前頭縫合隆起 | 目立つ後頭 | 眼球突出 | 眼窩下の皺 | 睡眠時無呼吸 | 神経学的発語障害 | 神経発生遅延 | 神経芽腫 | 粗な顔貌 | 粗大運動発達遅延 | 羊水過多 | 耳介後小孔 | 耳朶の異常 | 耳朶前方ヒダ | 耳硬化症 | 肝腫 | 肝芽腫 | 肥大型心筋症 | 肥満 | 脾腫 | 腎拡大 | 腎症 | 腎皮質嚢胞 | 腎石灰化症 | 腎結石 | 腎芽腫 (Wilms 腫瘍) | 腹直筋離開 | 膀胱尿管逆流 | 膵形態の異常 | 膵過形成 | 臍ヘルニア | 臍帯ヘルニア | 薄い上口唇唇紅部 | 過剰な皮膚 | 過成長 | 長い臍帯 | 難聴 | 非対称性成長 | 項部耳輪小孔 | 顔面中部の異常 | 顔面中部後退 | 顔面血管腫 | 食餌摂取障害 in infancy | 骨成熟促進 | 高インスリン血症 | 高カルシウム尿 | 高身長 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200042", "label_en": "Spinocerebellar ataxia type 6", "label_ja": "脊髄小脳失調症6型", "yomigana": "せきずいしょうのうしっちょうしょう6がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200042", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal vestibulo-ocular reflex | Abnormality of vision | Ataxia | Autosomal dominant inheritance | Babinski sign | Blepharospasm | Cerebellar atrophy | Cerebral cortical atrophy | Diplopia | Dysarthria | Dysmetria | Dysphagia | Dystonia | Frequent falls | Gait ataxia | Gaze-evoked horizontal nystagmus | Genetic anticipation | Hyperreflexia | Impaired smooth pursuit | Incoordination | Insidious onset | Intention tremor | Juvenile onset | Loss of ambulation | Migraine without aura | Nausea and vomiting | Nystagmus | Postural instability | Progressive | Progressive cerebellar ataxia | Sensory neuropathy | Slurred speech | Truncal ataxia | Unsteady gait | Vertical nystagmus | Vertigo | Young adult onset" ], "symptoms_ja_list": [ "Babinski サイン | ジストニア | 不安定歩行 | 不明瞭言語 | 企図振戦 | 体幹失調 | 前兆のない偏頭痛 | 協調運動障害 | 反射亢進 | 吐気と 嘔吐 | 嚥下障害 | 垂直眼振 | 大脳皮質萎縮 | 姿勢不安定 | 小脳萎縮 | 常染色体顕性遺伝 | 感覚ニューロパチー | 構音障害 | 歩行失調 | 注視誘発性水平性眼振 | 測定障害 | 滑らかな追視の障害 | 異常な前庭眼球反射 | 眩暈 | 眼振 | 眼瞼スパスム | 表現促進現象 | 複視 | 視覚の異常 | 進行性小脳失調 | 進行性歩行不安定 | 運動失調 | 頻回の転倒" ] }, { "id": "NANDO:1200566", "label_en": "Focal cortical dysplasia type 1b", "label_ja": "限局性皮質異形成タイプ1b", "yomigana": "げんきょくせいひしついけいせいたいぷ1びー", "url": "http://nanbyodata.jp/ontology/NANDO_1200566", "notificationNumber": "137", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201081", "label_en": "Protein S deficiency", "label_ja": "先天性プロテインS欠乏症", "yomigana": "せんてんせいぷろていんえすけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201081", "notificationNumber": "327", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100059", "label_en": "Aneurysm of ventricle", "label_ja": "心室瘤", "yomigana": "しんしつりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2100059", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200306", "label_en": "Warm antibody hemolytic anemia", "label_ja": "温式自己免疫性溶血性貧血", "yomigana": "おんしきじこめんえきせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200306", "notificationNumber": "61", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal urinary color | Arthralgia | Autoimmune hemolytic anemia | Autoimmunity | Chest pain | Chronic lymphatic leukemia | Congestive heart failure | Exertional dyspnea | Fatigue | Fever | Headache | Hemoglobinuria | Jaundice | Lymphoproliferative disorder | Microspherocytosis | Pallor | Palpitations | Reticulocytosis | Splenomegaly | Systemic lupus erythematosus | Tachycardia | Unconjugated hyperbilirubinemia" ], "symptoms_ja_list": [ "うっ血性心不全 | ヘモグロビン尿 | リンパ増殖性疾患 | 不抱合型高ビリルビン血症 | 全身性紅斑性狼瘡 | 共通 | 動悸 | 小球状赤血球症 | 尿色異常 | 慢性リンパ性白血病 | 疲労 | 発熱 | 網状赤血球増多症 | 脾腫 | 自己免疫 | 自己免疫性溶血性貧血 | 蒼白 | 運動性呼吸困難 | 関節痛 | 頭痛 | 頻拍 | 黄疸" ] }, { "id": "NANDO:1200030", "label_en": "Chronic inflammatory demyelinating polyneuropathy", "label_ja": "慢性炎症性脱髄性多発神経炎", "yomigana": "まんせいえんしょうせいだつずいせいたはつしんけいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200030", "notificationNumber": "14", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Acute demyelinating polyneuropathy | Areflexia | Autosomal dominant inheritance | Decreased nerve conduction velocity | Difficulty climbing stairs | Falls | Gait disturbance | Motor conduction block | Paresthesia | Peripheral demyelination | Peripheral neuropathy | Segmental peripheral demyelination/remyelination | Sensory ataxia | Somatic sensory dysfunction | Spontaneous pain sensation | Unsteady gait" ], "symptoms_ja_list": [ "不安定歩行 | 分節性末梢神経脱髄/再髄鞘形成 | 常染色体顕性遺伝 | 急性脱髄性ポリニューロパチー | 感覚失調 | 感覚異常 | 感覚障害 | 末梢神経ニューロパチー | 末梢神経脱髄 | 歩行障害 | 無反射 | 神経活動電位の振幅減少 | 自然疼痛 | 転倒 | 運動性伝導ブロック | 階段の登り困難" ] }, { "id": "NANDO:1200371", "label_en": "Ossification of posterior longitudinal ligament", "label_ja": "後縦靱帯骨化症", "yomigana": "こうじゅうじんたいこっかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200371", "notificationNumber": "69", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormality of the vertebral column | Autosomal recessive inheritance | Diabetes mellitus | Ectopic ossification | Hyperreflexia | Increased bone mineral density | Myelopathy | Spinal cord compression" ], "symptoms_ja_list": [ "ミエロパチー | 反射亢進 | 常染色体潜性遺伝 | 異所性骨化 | 糖尿病 | 脊柱の異常 | 脊髄圧迫 | 骨ミネラル濃度の増加" ] }, { "id": "NANDO:2200945", "label_en": "Hirschsprung disease", "label_ja": "ヒルシュスプルング病", "yomigana": "ひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200945", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100275", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Aganglionic megacolon | Constipation | Diarrhea | Enterocolitis | Failure to thrive in infancy | Feeding difficulties | Functional abnormality of the gastrointestinal tract | Growth delay | Intestinal obstruction | Nausea and vomiting | Polyhydramnios | Sepsis | Short stature | Weight loss" ], "symptoms_ja_list": [ "下痢 | 乳児期の成長障害 (成長不全) | 低身長 | 体重喪失 | 便秘 | 吐気と 嘔吐 | 小腸結腸炎 | 成長遅滞 | 敗血症 | 無神経節性巨大結腸 | 羊水過多 | 胃腸管機能異常 | 腸閉塞 | 腹痛 | 腹部膨満 | 食餌摂取障害" ] }, { "id": "NANDO:1201145", "label_en": "DYT26 Dystonia", "label_ja": "DYT26 ジストニア", "yomigana": "でぃーわいてぃー26じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1201145", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Anxiety | Autosomal dominant inheritance | Blepharospasm | Childhood onset | Depression | Dysarthria | Dysphonia | Dystonia | Juvenile onset | Laryngeal dystonia | Myoclonus | Progressive | Torticollis" ], "symptoms_ja_list": [ "うつ | ジストニア | ミオクローヌス | 不安 | 喉頭ジストニア | 常染色体顕性遺伝 | 斜頚 | 構音障害 | 発音障害 | 眼瞼スパスム" ] }, { "id": "NANDO:2200832", "label_en": "Cockayne syndrome", "label_ja": "コケイン症候群", "yomigana": "こけいんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200832", "notificationNumber": "60", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100221", "symptoms_en_list": [ "Abnormal cornea morphology | Abnormal dental morphology | Abnormal electroretinogram | Abnormal epiphysis morphology | Abnormal eye morphology | Abnormal number of teeth | Abnormal renal physiology | Abnormal retinal pigmentation | Absence of pubertal development | Absent speech | Action tremor | Agenesis of permanent teeth | Alacrima | Anhidrosis | Areflexia | Ataxia | Atherosclerosis | Atypical behavior | Axial hypotonia | Band keratopathy | Basal ganglia calcification | Cachexia | Carious teeth | Cataract | Cerebellar atrophy | Cerebellar dentate nucleus calcification | Cerebral atrophy | Cerebral calcification | Cerebral dysmyelination | Cognitive impairment | Congenital contracture | Contractures of the large joints | Convex nasal ridge | Corneal ulceration | Cryptorchidism | Cutaneous photosensitivity | Decreased lacrimation | Decreased nerve conduction velocity | Deeply set eye | Delayed eruption of primary teeth | Delayed puberty | Demyelinating peripheral neuropathy | Dental malocclusion | Developmental cataract | Developmental regression | Diabetes mellitus | Dry hair | Elevated circulating hepatic transaminase concentration | Enamel hypoplasia | Feeding difficulties in infancy | Fine hair | Focal retinal arteriolar constriction | Gait disturbance | Gastroesophageal reflux | Gastrostomy tube feeding in infancy | Gliosis | Global developmental delay | Growth delay | Hepatomegaly | High-frequency sensorineural hearing impairment | Hypermetropia | Hyperreflexia | Hypertension | Hypertonia | Hyperuricemia | Hyporeflexia | Inability to walk | Intellectual disability | Intention tremor | Keratoconjunctivitis sicca | Kyphosis | Lentiglobus | Limb hypertonia | Mental deterioration | Microphthalmia | Miosis | Nephrotic syndrome | Neurogenic bladder | Nystagmus | Optic atrophy | Optic disc pallor | Patchy demyelination of subcortical white matter | Peripheral axonal neuropathy | Peripheral neuropathy | Photophobia | Pigmentary retinopathy | Postnatal growth retardation | Premature skin wrinkling | Primary microcephaly | Progressive gait ataxia | Progressive microcephaly | Progressive sensorineural hearing impairment | Progressive visual loss | Proteinuria | Reduced subcutaneous adipose tissue | Renal hypoplasia | Renal insufficiency | Retinal atrophy | Retinal degeneration | Retinal dystrophy | Retinal hemorrhage | Scoliosis | Seizure | Sensorimotor neuropathy | Severe short stature | Skeletal muscle atrophy | Somatic sensory dysfunction | Spasticity | Splenomegaly | Strabismus | Subcortical white matter calcifications | Thickened calvaria | Unilateral renal agenesis | Urinary incontinence | Vascular calcification | Weak cry" ], "symptoms_ja_list": [ "ネフローゼ症候群 | 不正咬合 | 乳児期の胃瘻管栄養 | 乳歯萠出遅延 | 乾いた毛髪 | 乾燥性 | 企図振戦 | 体幹の筋緊張低下 | 作動振戦 | 停留精巣 | 側弯 | 先天性小頭 | 先天性白内障 | 先天性関節拘縮 | 全般性発達遅滞 | 凸の鼻梁 | 分厚い頭蓋冠 | 動脈硬化症 | 反射亢進 | 反射低下 | 四肢筋緊張亢進 | 基底核石灰化 | 大脳石灰化 | 大脳萎縮 | 大脳髄鞘形成異常症 | 大関節拘縮 | 小眼球 | 小脳歯状核の濃い石灰化 | 小脳萎縮 | 帯状角膜症 | 弱い泣き声 | 後弯 | 思春期発達欠損 | 思春期遅発 | 悪液質 (カヘキシー) | 感覚運動ニューロパチー | 感覚障害 | 成長遅滞 | 斜視 | 早発性皮膚皺 | 末梢神経ニューロパチー | 末梢神経軸索ニューロパチー | 歩行不能 | 歩行障害 | 歯エナメル質低形成 | 歯形態異常 | 永久歯無発生 | 流涙減少 | 無反射 | 無汗症 | 無涙症 | 片側性腎無発生 | 球形円錐水晶体 | 生後の成長遅滞 | 異常な歯の数 | 痙性 | 発作 | 発語欠損 | 発達退行 | 白内障 | 皮下脂肪組織減少 | 皮膚光線過敏症 | 皮質下白質 石灰化 | 皮質下白質斑状脱髄 | 眼形態の異常 | 眼振 | 知的障害 | 知能悪化 | 神経因性膀胱 | 神経活動電位の振幅減少 | 神経膠症 | 筋緊張亢進 | 筋萎縮 | 糖尿病 | 細い毛髪 | 網膜ジストロフィー | 網膜出血 | 網膜変性 | 網膜小動脈狭窄 | 網膜色素異常 | 網膜萎縮 | 網膜電図異常 | 縮瞳 | 羞明 | 肝トランスアミナーゼ上昇 | 肝腫 | 胃食道逆流 | 脱髄性末梢運動神経ニューロパチー | 脾腫 | 腎不全 | 腎低形成 | 腎生理異常 | 色素性網膜症 | 落ちくぼんだ眼 | 蛋白尿 | 血管石灰化 | 行動異常 | 視神経杯蒼白 | 視神経萎縮 | 角膜の異常 | 角膜潰瘍 | 認知障害 | 進行性小頭 | 進行性感音難聴 | 進行性歩行失調 | 進行性視力喪失 | 運動失調 | 遠視 | 遺尿 | 重度の低身長 | 食餌摂取障害 in infancy | 骨端の異常 | 高尿酸血症 | 高血圧 | 高音感音難聴 | 齲歯" ] }, { "id": "NANDO:2201245", "label_en": "Atypical neuronal ceroid lipofuscinosis", "label_ja": "非定型神経セロイドリポフスチン症", "yomigana": "ひていけいしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201245", "notificationNumber": "121", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201151", "label_en": "Neurodegeneration with brain iron accumulation type6", "label_ja": "脳内鉄沈着神経変性症6型", "yomigana": "のうないてつちんちゃくしんけいへんせいしょう6がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201151", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal caudate nucleus morphology | Abnormal corpus striatum morphology | Abnormal globus pallidus morphology | Abnormal thalamus morphology | Areflexia of lower limbs | Autosomal recessive inheritance | Bradykinesia | Childhood onset | Cognitive impairment | Compulsive behaviors | Depression | Developmental regression | Distal amyotrophy | Dysarthria | Dystonia | Eye of the tiger anomaly of globus pallidus | Gait disturbance | Global developmental delay | Hypoplasia of the corpus callosum | Hyporeflexia | Intellectual disability | Mental deterioration | Motor axonal neuropathy | Motor tics | Neurodegeneration | Oromandibular dystonia | Parkinsonism | Peripheral axonal neuropathy | Pes cavus | Progressive | Rigidity | Spastic paraparesis | Spastic tetraplegia" ], "symptoms_ja_list": [ "うつ | ジストニア | パーキンソン症候群 | 下肢無反射 | 全般性発達遅滞 | 凹足 | 反射低下 | 口下顎ジストニア | 尾状核の異常 | 常染色体潜性遺伝 | 強迫性行動 | 末梢神経軸索ニューロパチー | 構音障害 | 歩行障害 | 淡蒼球の異常 | 淡蒼球の虎の眼奇形 | 痙性四肢麻痺 | 痙性対不全麻痺 | 発達退行 | 知的障害 | 知能悪化 | 硬直 | 神経変性 | 線条体の異常 | 脳梁低形成 | 視床形態の異常 | 認知障害 | 運動性チック | 運動性軸索ニューロパチー | 運動緩徐 | 遠位筋萎縮" ] }, { "id": "NANDO:2201514", "label_en": "Hereditary hyperkalemic periodic paralysis", "label_ja": "遺伝性高カリウム性周期性四肢麻痺", "yomigana": "いでんせいこうかりうむせいしゅうきせいししまひ", "url": "http://nanbyodata.jp/ontology/NANDO_2201514", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100307", "symptoms_en_list": [ "Arrhythmia | Autosomal dominant inheritance | Bowel incontinence | Cerebral palsy | Chest pain | Congestive heart failure | Death in early adulthood | Death in infancy | Diminished deep tendon reflex | EMG abnormality | Elevated circulating creatine kinase activity | Episodic flaccid weakness | Fasciculations | Feeding difficulties in infancy | Flexion contracture | Gait disturbance | Hyperkalemia | Hypertonia | Hypokalemia | Hyponatremia | Infantile onset | Malignant hyperthermia | Myalgia | Myopathy | Myotonia | Ophthalmoparesis | Paresthesia | Periodic hyperkalemic paralysis | Respiratory insufficiency | Skeletal muscle atrophy | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "うっ血性心不全 | ミオトニア | ミオパチー | 不整脈 | 低カリウム血症 | 低ナトリウム血症 | 共通 | 周期性高カルシウム血症性麻痺 | 呼吸不全 | 屈曲拘縮 | 常染色体顕性遺伝 | 弛緩性虚弱エピソード | 悪性高体温症 | 感覚異常 | 歩行障害 | 眼筋不全麻痺 | 筋痛 | 筋緊張亢進 | 筋肥大 | 筋萎縮 | 筋電図異常 | 線維束性収縮 | 脳性麻痺 | 腱反射減少 | 血清 creatine phosphokinase上昇 | 遺糞症 | 食餌摂取障害 in infancy | 高カリウム血症" ] }, { "id": "NANDO:1200778", "label_en": "Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia", "label_ja": "ビタミンD抵抗性くる病/骨軟化症", "yomigana": "びたみんでぃーていこうせいくるびょう/こつなんかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200778", "notificationNumber": "238", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200648", "label_en": "Ehlers-Danlos syndrome, vascular type", "label_ja": "血管型エーラス・ダンロス症候群", "yomigana": "けっかんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200648", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal bleeding | Abnormal cardiovascular system morphology | Abnormal eyelash morphology | Abnormal heart valve morphology | Abnormal intestine morphology | Abnormal oral frenulum morphology | Abnormal pupil morphology | Abnormal skin pigmentation | Abnormality of hair texture | Abnormality of the dentition | Abnormality of the face | Abnormality of the gingiva | Abnormality of the skin | Alopecia | Aortic aneurysm | Aortic dissection | Aplasia/Hypoplasia of the abdominal wall musculature | Aplasia/Hypoplasia of the earlobes | Aplasia/Hypoplasia of the eyebrow | Arterial dissection | Arterial stenosis | Arteriovenous fistula | Arteriovenous fistulas of celiac and mesenteric vessels | Ascending tubular aorta aneurysm | Bladder diverticulum | Blue sclerae | Bruising susceptibility | Carious teeth | Cigarette-paper scars | Cognitive impairment | Congenital hip dislocation | Cryptorchidism | Cystocele | Deeply set eye | Dermal translucency | Epicanthus | Excessive wrinkled skin | Flat face | Gastrointestinal infarctions | Gingival overgrowth | Gingivitis | Glaucoma | Global developmental delay | Hemoptysis | High", "narrow palate | Hypertelorism | Hypertension | Hypokalemia | Hypoplastic lacrimal duct | Hypospadias | Inguinal hernia | Internal hemorrhage | Joint dislocation | Joint hypermobility | Keratoconus | Macule | Melanocytic nevus | Microdontia | Migraine | Mitral valve prolapse | Narrow mouth | Narrow nasal bridge | Osteoarthritis | Osteolysis | Pectus excavatum | Periodontitis | Peripheral arteriovenous fistula | Pneumothorax | Premature birth | Premature loss of primary teeth | Prematurely aged appearance | Proptosis | Protruding ear | Ptosis | Pulmonary artery aneurysm | Reduced consciousness | Redundant skin | Renovascular hypertension | Respiratory insufficiency | Short stature | Sleep apnea | Sprengel anomaly | Subcutaneous nodule | Talipes equinovarus | Telangiectasia of the skin | Telecanthus | Thin skin | Thin vermilion border | Transient ischemic attack | Umbilical hernia | Uterine prolapse | Uterine rupture | Varicose veins | Vascular dilatation | Vertigo" ], "symptoms_ja_list": [ "Sprengel 奇形 | タバコ巻紙瘢痕 | メラニン細胞母斑 | 一過性虚血発作 | 上行大動脈拡張 | 両眼隔離 | 低カリウム血症 | 低身長 | 偏頭痛 | 停留精巣 | 僧帽弁逸脱 | 先天性股関節脱臼 | 全般性発達遅滞 | 内出血 | 内反尖足 | 内眼角外方偏位 | 内眼角贅皮 | 円錐角膜 | 出血傾向 | 動脈狭窄 | 動脈瘤 | 動脈解離 | 動静脈瘻 | 口腔小帯異常 | 呼吸不全 | 喀血 | 大動脈瘤 | 大動脈解離 | 子宮破裂 | 子宮脱 | 小歯 | 尿道下裂 | 平坦な顔 | 循環器系の形態異常 | 心弁の異常 | 意識減少/混乱 | 斑 | 早産 | 早発性乳歯喪失 | 早老外観 | 末梢動静脈瘻 | 歯の異常 | 歯周炎 | 歯肉の異常 | 歯肉炎 | 歯肉過成長 | 毛髪質の異常 | 気胸 | 涙管低形成 | 漏斗胸 | 狭い口 | 狭い鼻梁 | 異常な出血 | 皮下結節 | 皮膚の異常 | 皮膚毛細血管拡張 | 皮膚色素の異常 | 皮膚透明性 | 眉毛の無形成/低形成 | 眩暈 | 眼球突出 | 眼瞼下垂 | 睡眠時無呼吸 | 睫毛の異常 | 瞳孔の異常 | 禿頭 | 緑内障 | 耳介聳立 | 耳朶無形成/低形成 | 肺動脈瘤 | 胃腸梗塞 | 腎血管性高血圧 | 腸の異常 | 腹壁筋無形成/低形成 | 腹腔動脈と腸間膜動脈の動静脈瘻 | 膀胱憩室 | 膀胱瘤 | 臍ヘルニア | 落ちくぼんだ眼 | 薄い唇紅部縁 | 薄い皮膚 | 認知障害 | 過剰な皮膚 | 過剰な皺の多い皮膚 | 関節脱臼 | 関節過動 | 青色胸膜 sclerae | 静脈瘤 | 顔の異常 | 骨融解 | 骨関節炎 | 高狭口蓋 | 高血圧 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2100045", "label_en": "Complete atrio-ventricular block", "label_ja": "完全房室ブロック", "yomigana": "かんぜんぼうしつぶろっく", "url": "http://nanbyodata.jp/ontology/NANDO_2100045", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201062", "label_en": "Takayasu arteritis with occlusion of aortic arch", "label_ja": "弓分岐閉塞型高安動脈炎", "yomigana": "きゅうぶんきへいそくがたたかやすどうみゃくえん", "url": "http://nanbyodata.jp/ontology/NANDO_2201062", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100153", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200516", "label_en": "Dystonia 5a", "label_ja": "DYT5aジストニア", "yomigana": "でぃーわいてぃー5えーじすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200516", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal dominant inheritance | Autosomal recessive inheritance | Babinski sign | Bradykinesia | Childhood onset | Cogwheel rigidity | Dysarthria | Dysdiadochokinesis | Dystonia | Gait ataxia | Gaze-evoked horizontal nystagmus | Hyperreflexia | Impaired distal vibration sensation | Incoordination | Parkinsonism with favorable response to dopaminergic medication | Pes cavus | Postural tremor | Resting tremor | Scoliosis | Spasticity | Talipes equinovarus | Torticollis | Transient hyperphenylalaninemia | Writer's cramp" ], "symptoms_ja_list": [ "Babinski サイン | ジストニア | ドパミン製剤によく反応するパーキンソン症候群 | 一過性高フェニールアラニン血症 | 側弯 | 内反尖足 | 凹足 | 協調運動障害 | 反射亢進 | 姿勢性振戦 | 安静時振戦 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 拮抗運動反復不全 | 斜頚 | 書痙 | 構音障害 | 歩行失調 | 歯車様硬直 | 注視誘発性水平性眼振 | 痙性 | 運動緩徐 | 遠位振動覚障害" ] }, { "id": "NANDO:1200829", "label_en": "Glycogen storage diseases type VII", "label_ja": "筋型糖原病VII型", "yomigana": "きんがたとうげんびょう7がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200829", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Anemia | Autosomal recessive inheritance | Childhood onset | Cholelithiasis | Easy fatigability | Elevated circulating aldolase concentration | Elevated circulating creatine kinase activity | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced muscle fatigue | Exercise-induced muscle stiffness | Exercise-induced myalgia | Exercise-induced myoglobinuria | Gout | Hematuria | Hemolytic anemia | Hyperuricemia | Increased muscle glycogen content | Increased total bilirubin | Increased variability in muscle fiber diameter | Jaundice | Juvenile onset | Muscle weakness | Myalgia | Myotonia | Reticulocytosis | Skeletal muscle atrophy" ], "symptoms_ja_list": [ "アルドラーゼ値上昇 | ミオトニア | 常染色体潜性遺伝 | 易疲労性 | 溶血性貧血 | 筋グリコーゲン量増加 | 筋痛 | 筋線維直径の多様性増加 | 筋萎縮 | 筋虚弱 | 網状赤血球増多症 | 総ビリルビン増加 | 胆石症 | 血尿 | 血清 creatine phosphokinase上昇 | 貧血 | 通風 | 運動不耐症 | 運動誘発性ミオグロビン尿 | 運動誘発性筋けいれん | 運動誘発性筋疲労 | 運動誘発性筋痛 | 運動誘発性筋硬直 | 高尿酸血症 | 黄疸" ] }, { "id": "NANDO:1201078", "label_en": "Pseudohypoparathyroidism type 2", "label_ja": "偽性副甲状腺機能低下症II型", "yomigana": "ぎせいふくこうじょうせんきのうていかしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201078", "notificationNumber": "236", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abdominal symptom | Calcinosis | Ectopic calcification | Elevated circulating parathyroid hormone level | Hyperphosphatemia | Hypocalcemia | Hypocalcemic seizures | Hypocalcemic tetany | Laryngeal dystonia | Low urinary cyclic AMP response to PTH administration | Muscle spasm | Myoclonic spasms | Paresthesia | Prolonged QT interval | Pseudohypoparathyroidism | Sporadic" ], "symptoms_ja_list": [ "PTH 投与への尿中 cyclic AMP反応の低下 | ミオクローヌス性スパスム | 低カルシウム血症 | 低カルシウム血症性テタニー | 低カルシウム血症性発作 | 偽性副甲状腺機能低下症 | 喉頭ジストニア | 孤発性 | 循環性副甲状腺ホルモン(PTH) 値上昇 | 感覚異常 | 異所性石灰化 | 石灰症 | 筋けいれん | 腹部症状 | 遷延性 QT 間隔 | 高リン血漿" ] }, { "id": "NANDO:2200715", "label_en": "Dyskeratosis congenita", "label_ja": "先天性角化異常症", "yomigana": "せんてんせいかくかいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200715", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal eyebrow morphology | Abnormal eyelash morphology | Abnormal fingernail morphology | Abnormal morphology of female internal genitalia | Abnormal testis morphology | Abnormality of coagulation | Abnormality of neutrophils | Abnormality of the dentition | Abnormality of the pharynx | Alopecia | Anemia | Anorectal anomaly | Aplasia/Hypoplasia of the skin | Aplastic/hypoplastic toenail | Avascular necrosis | Blepharitis | Bone marrow hypocellularity | Carious teeth | Cataract | Cellular immunodeficiency | Cerebral calcification | Cirrhosis | Coarse metaphyseal trabecularization | Diabetes mellitus | Displacement of the urethral meatus | Esophageal stenosis | Global developmental delay | Hearing impairment | Hepatic failure | Hepatomegaly | Hyperhidrosis | Hypermelanotic macule | Hypodontia | Hypopigmented skin patches | Hypoplasia of the maxilla | Intrauterine growth retardation | Lymphoma | Macule | Malabsorption | Nail dystrophy | Neoplasm | Neoplasm of the pancreas | Oral leukoplakia | Osteoporosis | Palmoplantar keratoderma | Periodontitis | Premature graying of hair | Recurrent fractures | Recurrent respiratory infections | Scoliosis | Short stature | Skin ulcer | Skin vesicle | Sparse hair | Splenomegaly | Taurodontia | Telangiectasia of the skin | Thrombocytopenia | Tracheoesophageal fistula | Urethral stenosis | White hair" ], "symptoms_ja_list": [ "メラニン増加性斑 | リンパ腫 | 上顎低形成 | 低色素性皮膚斑 | 低身長 | 側弯 | 全般性発達遅滞 | 凝固の異常 | 反復性呼吸器感染症 | 反復性骨折 | 口腔ロイコプラキア | 吸収障害 | 咽頭の異常 | 外部尿道口位置異常 | 多汗 | 大脳石灰化 | 女性内性器異常 | 好中球の異常 | 子宮内成長遅滞 | 尿道狭窄 | 指爪の異常 | 掌蹠角皮症 | 斑 | 新生物 | 早発性毛髪白髪 | 歯の異常 | 歯周炎 | 気管食道瘻 | 減歯症 | 無菌性壊死 | 爪ジストロフィー | 牛歯 | 異常な皮膚水泡 | 疎な毛髪 | 白内障 | 白髪 | 皮膚小水疱 | 皮膚毛細血管拡張 | 皮膚潰瘍 | 皮膚無形成/低形成 | 眉毛の異常 | 眼瞼炎 | 睫毛の異常 | 禿頭 | 粗い骨梁 | 精巣異常 | 糖尿病 | 細胞免疫不全 | 肛門直腸奇形 | 肝不全 | 肝硬変 | 肝腫 | 脾腫 | 膵新生物 | 血小板減少 | 貧血 | 趾爪無形成/低形成 | 難聴 | 食道狭窄 | 骨粗鬆症 | 骨髄細胞数増多 | 齲歯" ] }, { "id": "NANDO:1201041", "label_en": "Homocystinuria type 3", "label_ja": "ホモシスチン尿症III型", "yomigana": "ほもしすちんにょうしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201041", "notificationNumber": "337", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal circulating enzyme concentration or activity | Abnormal periventricular white matter morphology | Abnormal thrombosis | Abnormality of the eye | Apnea | Ataxia | Atrophy of the spinal cord | Atypical behavior | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Brain atrophy | Cognitive impairment | Cystathioninemia | Deep venous thrombosis | Encephalopathy | Failure to thrive | Feeding difficulties in infancy | Focal-onset seizure | Gait disturbance | Generalized myoclonic seizure | Generalized neonatal hypotonia | Generalized non-motor (absence) seizure | Global developmental delay | Headache | Hemiparesis | Homocystinuria | Hydrocephalus | Hyperhomocystinemia | Hypomethioninemia | Incoordination | Intellectual disability | Lethargy | Lower limb muscle weakness | Lower limb spasticity | Mental deterioration | Microcephaly | Morphological central nervous system abnormality | Muscle weakness | Nystagmus | Optic atrophy | Paresthesia | Peripheral neuropathy | Psychosis | Psychotic episodes | Psychotic mentation | Seizure | Spastic paraparesis | Specific learning disability | Stroke | Thromboembolic stroke | Upper motor neuron dysfunction | Ventriculomegaly" ], "symptoms_ja_list": [ "シスタシオニン血症 | ホモシスチン尿 | 下肢痙性 | 下肢筋虚弱 | 中枢神経の形態異常 | 低メチオニン血症 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性新生児筋緊張低下 | 全身性間代性強直性発作 | 卒中 | 協調運動障害 | 大脳白質の異常 | 小頭 | 常染色体潜性遺伝 | 感覚異常 | 成長障害 (成長不全) | 末梢神経ニューロパチー | 欠神発作 | 歩行障害 | 水頭症 | 深部静脈血栓症 | 無呼吸 | 無気力 | 焦点性発作 | 片側不全麻痺 | 特異的学習障害 | 異常な血栓症 | 痙性対不全麻痺 | 発作 | 皮質脊髄路機能障害 | 眼の異常 | 眼振 | 知的障害 | 知能悪化 | 筋虚弱 | 精神病 | 精神病エピソード | 精神病的精神機能 | 脊髄萎縮 | 脳室周囲白質の異常 | 脳室拡大 | 脳症 | 脳萎縮 | 血栓塞栓性卒中 | 行動異常 | 視神経萎縮 | 認知障害 | 運動失調 | 頭痛 | 食餌摂取障害 in infancy | 高ホモシスチン血症 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2201184", "label_en": "Mucopolysaccharidosis type VII, mild form", "label_ja": "軽症型ムコ多糖症VII型", "yomigana": "けいしょうがたむこたとうしょう7がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201184", "notificationNumber": "134", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200409", "label_en": "Polycystic ovary syndrome", "label_ja": "多嚢胞性卵巣症候群", "yomigana": "たのうほうせいらんそうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200409", "notificationNumber": "63", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100149", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Amenorrhea | Autosomal dominant inheritance | Enlarged polycystic ovaries | Hirsutism | Obesity | Oligomenorrhea" ], "symptoms_ja_list": [ "代謝/ホメオスターシスの異常 | 多嚢胞性卵巣拡大 | 多毛 | 希発月経 | 常染色体顕性遺伝 | 無月経 | 肥満" ] }, { "id": "NANDO:2200482", "label_en": "Hyperargininemia", "label_ja": "高アルギニン血症", "yomigana": "こうあるぎにんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200482", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal speech pattern | Anorexia | Atypical behavior | Autosomal recessive inheritance | Cerebellar atrophy | Childhood onset | Cholestasis | Diaminoaciduria | EEG abnormality | Episodic vomiting | Frequent falls | Global developmental delay | Hemiplegia/hemiparesis | Hepatomegaly | Hyperactivity | Hyperammonemia | Intellectual disability | Irritability | Micronodular cirrhosis | Neonatal onset | Oroticaciduria | Portal fibrosis | Postnatal growth retardation | Progressive spastic quadriplegia | Seizure | Severe intellectual disability | Spastic gait | Spastic paraparesis | Vomiting" ], "symptoms_ja_list": [ "オロチン酸尿 | ジアミノ酸尿 | 全般性発達遅滞 | 嘔吐 | 嘔吐エピソード | 多動 | 小結節性肝硬変 | 小脳萎縮 | 常染色体潜性遺伝 | 片麻痺/片側不全麻痺 | 生後の成長遅滞 | 痙性対不全麻痺 | 痙性歩行 | 発作 | 知的障害 | 知的障害", "重度 | 神経学的発語障害 | 肝腫 | 胆汁うっ滞 | 脳波異常 | 行動異常 | 被刺激性 | 進行性痙性四肢麻痺 | 門脈線維症 | 頻回の転倒 | 食思不振 | 高アンモニア血症" ] }, { "id": "NANDO:2200963", "label_en": "Trisomy 18", "label_ja": "18トリソミー症候群", "yomigana": "18とりそみーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200963", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal cranial suture/fontanelle morphology | Abnormal hip bone morphology | Abnormal morphology of female internal genitalia | Abnormal retinal pigmentation | Abnormal rib morphology | Abnormality of the lower limb | Abnormality of the upper limb | Abnormality of the upper urinary tract | Anal atresia | Anencephaly | Aplasia/Hypoplasia of the corpus callosum | Aplasia/Hypoplasia of the radius | Atrial septal defect | Bilateral single transverse palmar creases | Blepharophimosis | Brachycephaly | Cachexia | Camptodactyly of finger | Cataract | Central apnea | Cerebellar hypoplasia | Chiari malformation | Choanal atresia | Choroid plexus cyst | Cleft palate | Cognitive impairment | Congenital diaphragmatic hernia | Corneal opacity | Cryptorchidism | Delayed skeletal maturation | Deviation of finger | Dolichocephaly | Epicanthus | Esophageal atresia | Feeding difficulties in infancy | Gastroesophageal reflux | Global developmental delay | Growth delay | Hand clenching | Hernia | Holoprosencephaly | Horseshoe kidney | Hydronephrosis | Hypertelorism | Hypertonia | Hypoplasia of the nasal bone | Hypotonia | Increased nuchal translucency | Intrauterine growth retardation | Iris coloboma | Microcephaly | Microphthalmia | Microretrognathia | Narrow palate | Narrow pelvis bone | Non-midline cleft of the upper lip | Omphalocele | Overlapping fingers | Pointed helix | Polyhydramnios | Posteriorly rotated ears | Prominent occiput | Pyloric stenosis | Seizure | Severe intellectual disability | Short stature | Short sternum | Single umbilical artery | Small nail | Spina bifida | Talipes equinovarus | Triangular face | Ventricular septal defect" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | コロボーマ | ヘルニア | 三角形の顔 | 上肢の異常 | 上部尿路異常 | 下肢の異常 | 両側性単一手掌横線 | 両眼隔離 | 中枢性無呼吸 | 二分脊椎 | 低身長 | 停留精巣 | 先天性横隔膜ヘルニア | 全前脳胞症 | 全般性発達遅滞 | 内反尖足 | 内眼角贅皮 | 単一臍帯動脈 | 口蓋裂 | 女性内性器異常 | 子宮内成長遅滞 | 寛骨の異常 | 小さい爪 | 小眼球 | 小脳低形成 | 小頭 | 小顎後退 | 尖った耳輪 | 屈指 | 幽門狭窄 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 悪液質 (カヘキシー) | 成長遅滞 | 指の重なり | 指偏位 | 握り手 | 橈骨無形成/低形成 | 水腎症 | 泉門と頭蓋骨縫合の異常 | 無脳症 | 狭い口蓋 | 狭い骨盤 | 発作 | 白内障 | 目立つ後頭 | 眼瞼裂狭小 | 知的障害", "重度 | 短い胸骨 | 短頭 | 筋緊張亢進 | 筋緊張低下 | 網膜色素異常 | 羊水過多 | 耳介後方回転 | 肋骨の異常 | 胃食道逆流 | 脈絡膜叢嚢胞 | 脳梁無形成/低形成 | 臍帯ヘルニア | 角膜混濁 | 認知障害 | 鎖肛 | 長頭 | 非正中口唇裂 | 項部透過性増加 | 食道閉鎖 | 食餌摂取障害 in infancy | 馬蹄腎 | 骨格骨化遅延 | 鼻骨低形成" ] }, { "id": "NANDO:2201191", "label_en": "Sialidosis type 1", "label_ja": "シアリドーシスI型", "yomigana": "しありどーしす1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201191", "notificationNumber": "117", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal speech pattern | Abnormal vertebral body morphology | Abnormality of movement | Aminoaciduria | Ataxia | Cataract | Cherry red spot of the macula | Coarse facial features | Corneal opacity | Decreased nerve conduction velocity | Delayed skeletal maturation | Dysostosis multiplex | EEG abnormality | Frontal bossing | Gait disturbance | Hernia | Hyperkeratosis | Hypotonia | Increased urinary O-linked sialopeptides | Intellectual disability | Kyphosis | Muscle weakness | Myoclonus | Nystagmus | Pectus carinatum | Progressive visual loss | Retinopathy | Scoliosis | Seizure | Sensorineural hearing impairment | Short stature | Short thorax | Skeletal dysplasia | Skeletal muscle atrophy | Slurred speech | Splenomegaly | Thick lower lip vermilion | Tremor | Urinary excretion of sialylated oligosaccharides | Vascular skin abnormality | Visual impairment | Wide nasal bridge" ], "symptoms_ja_list": [ "はと胸 | アミノ酸尿 | シアル化オリゴ糖の尿中排泄 | ヘルニア | ミオクローヌス | 不明瞭言語 | 低身長 | 側弯 | 分厚い下口唇唇紅部 | 前頭突出", "額突出 | 多発性異骨症 | 尿中 O-linked sialopeptides 増加 | 幅広い鼻梁 | 後弯 | 感音難聴 | 振戦 | 椎体骨形態異常 | 歩行障害 | 発作 | 白内障 | 眼振 | 知的障害 | 短い胸郭 | 神経学的発語障害 | 神経活動電位の振幅減少 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗な顔貌 | 網膜症 | 脳波異常 | 脾腫 | 血管皮膚異常 | 視力障害 | 角膜混濁 | 進行性視力喪失 | 運動の異常 | 運動失調 | 過角化症 | 骨格異形成 | 骨格骨化遅延 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2201045", "label_en": "Coronary aneurysms complicated with Kawasaki disease (abortive Kawasaki disease)", "label_ja": "川崎病性冠動脈瘤（不全型川崎病）", "yomigana": "かわさきびょうせいかんどうみゃくりゅう（ふぜんがたかわさきびょう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201045", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100068", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200723", "label_en": "Crescentic glomerulonephritis", "label_ja": "半月体形成性糸球体腎炎", "yomigana": "はんげつたいけいせいせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200723", "notificationNumber": "222", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201258", "label_en": "Ehlers-Danlos syndrome, vascular type", "label_ja": "血管型エーラス・ダンロス症候群", "yomigana": "けっかんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201258", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100172", "symptoms_en_list": [ "Abnormal bleeding | Abnormal cardiovascular system morphology | Abnormal eyelash morphology | Abnormal heart valve morphology | Abnormal intestine morphology | Abnormal oral frenulum morphology | Abnormal pupil morphology | Abnormal skin pigmentation | Abnormality of hair texture | Abnormality of the dentition | Abnormality of the face | Abnormality of the gingiva | Abnormality of the skin | Alopecia | Aortic aneurysm | Aortic dissection | Aplasia/Hypoplasia of the abdominal wall musculature | Aplasia/Hypoplasia of the earlobes | Aplasia/Hypoplasia of the eyebrow | Arterial dissection | Arterial stenosis | Arteriovenous fistula | Arteriovenous fistulas of celiac and mesenteric vessels | Ascending tubular aorta aneurysm | Bladder diverticulum | Blue sclerae | Bruising susceptibility | Carious teeth | Cigarette-paper scars | Cognitive impairment | Congenital hip dislocation | Cryptorchidism | Cystocele | Deeply set eye | Dermal translucency | Epicanthus | Excessive wrinkled skin | Flat face | Gastrointestinal infarctions | Gingival overgrowth | Gingivitis | Glaucoma | Global developmental delay | Hemoptysis | High", "narrow palate | Hypertelorism | Hypertension | Hypokalemia | Hypoplastic lacrimal duct | Hypospadias | Inguinal hernia | Internal hemorrhage | Joint dislocation | Joint hypermobility | Keratoconus | Macule | Melanocytic nevus | Microdontia | Migraine | Mitral valve prolapse | Narrow mouth | Narrow nasal bridge | Osteoarthritis | Osteolysis | Pectus excavatum | Periodontitis | Peripheral arteriovenous fistula | Pneumothorax | Premature birth | Premature loss of primary teeth | Prematurely aged appearance | Proptosis | Protruding ear | Ptosis | Pulmonary artery aneurysm | Reduced consciousness | Redundant skin | Renovascular hypertension | Respiratory insufficiency | Short stature | Sleep apnea | Sprengel anomaly | Subcutaneous nodule | Talipes equinovarus | Telangiectasia of the skin | Telecanthus | Thin skin | Thin vermilion border | Transient ischemic attack | Umbilical hernia | Uterine prolapse | Uterine rupture | Varicose veins | Vascular dilatation | Vertigo" ], "symptoms_ja_list": [ "Sprengel 奇形 | タバコ巻紙瘢痕 | メラニン細胞母斑 | 一過性虚血発作 | 上行大動脈拡張 | 両眼隔離 | 低カリウム血症 | 低身長 | 偏頭痛 | 停留精巣 | 僧帽弁逸脱 | 先天性股関節脱臼 | 全般性発達遅滞 | 内出血 | 内反尖足 | 内眼角外方偏位 | 内眼角贅皮 | 円錐角膜 | 出血傾向 | 動脈狭窄 | 動脈瘤 | 動脈解離 | 動静脈瘻 | 口腔小帯異常 | 呼吸不全 | 喀血 | 大動脈瘤 | 大動脈解離 | 子宮破裂 | 子宮脱 | 小歯 | 尿道下裂 | 平坦な顔 | 循環器系の形態異常 | 心弁の異常 | 意識減少/混乱 | 斑 | 早産 | 早発性乳歯喪失 | 早老外観 | 末梢動静脈瘻 | 歯の異常 | 歯周炎 | 歯肉の異常 | 歯肉炎 | 歯肉過成長 | 毛髪質の異常 | 気胸 | 涙管低形成 | 漏斗胸 | 狭い口 | 狭い鼻梁 | 異常な出血 | 皮下結節 | 皮膚の異常 | 皮膚毛細血管拡張 | 皮膚色素の異常 | 皮膚透明性 | 眉毛の無形成/低形成 | 眩暈 | 眼球突出 | 眼瞼下垂 | 睡眠時無呼吸 | 睫毛の異常 | 瞳孔の異常 | 禿頭 | 緑内障 | 耳介聳立 | 耳朶無形成/低形成 | 肺動脈瘤 | 胃腸梗塞 | 腎血管性高血圧 | 腸の異常 | 腹壁筋無形成/低形成 | 腹腔動脈と腸間膜動脈の動静脈瘻 | 膀胱憩室 | 膀胱瘤 | 臍ヘルニア | 落ちくぼんだ眼 | 薄い唇紅部縁 | 薄い皮膚 | 認知障害 | 過剰な皮膚 | 過剰な皺の多い皮膚 | 関節脱臼 | 関節過動 | 青色胸膜 sclerae | 静脈瘤 | 顔の異常 | 骨融解 | 骨関節炎 | 高狭口蓋 | 高血圧 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:1200761", "label_en": "Neonatal adrenoleukodystrophy", "label_ja": "新生児型副腎白質ジストロフィー", "yomigana": "しんせいじがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200761", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100232", "label_en": "Congenital neuropathy", "label_ja": "先天性ニューロパチー", "yomigana": "せんてんせいにゅーろぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_2100232", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201021", "label_en": "Pancreatic cystic fibrosis", "label_ja": "膵囊胞線維症", "yomigana": "ひのうほうせんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201021", "notificationNumber": "299", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abnormality of the liver | Absent vas deferens | Airway obstruction | Anxiety | Asthma | Autosomal recessive inheritance | Biliary cirrhosis | Bronchiectasis | Childhood onset | Chronic lung disease | Chronic sinusitis | Cirrhosis | Clubbing of fingers | Cor pulmonale | Dehydration | Depression | Diarrhea | Elevated circulating hepatic transaminase concentration | Elevated sweat chloride | Exocrine pancreatic insufficiency | Failure to thrive | Gastroesophageal reflux | Hearing impairment | Hemoptysis | Hepatomegaly | Hepatosplenomegaly | Hypercalciuria | Ileus | Infantile onset | Kidney stone | Malabsorption | Male infertility | Meconium ileus | Nasal polyposis | Osteopenia | Osteoporosis | Pancreatitis | Pneumothorax | Rectal prolapse | Recurrent Aspergillus infection | Recurrent Burkholderia cepacia infection | Recurrent Haemophilus influenzae infection | Recurrent Staphylococcus aureus infection | Recurrent bronchopulmonary infections | Recurrent lower respiratory tract infections | Recurrent pneumonia | Recurrent respiratory infections | Sinusitis | Steatorrhea" ], "symptoms_ja_list": [ "うつ | ばち指 | イレウス | メコニウム・イレウス | 下痢 | 不安 | 副鼻腔炎 | 反復性アスペルギルス感染症 | 反復性インフルエンザ菌感染症 | 反復性セパシア菌感染症 | 反復性下気道感染症 | 反復性呼吸器感染症 | 反復性気管支肺感染症 | 反復性肺炎 | 反復性黄色ブドウ球菌感染症 | 吸収障害 | 喀血 | 喘息 | 外分泌性膵不全 | 常染色体潜性遺伝 | 慢性副鼻腔炎 | 慢性肺疾患 | 成長障害 (成長不全) | 気管支拡張 | 気胸 | 汗中クロール上昇 | 男性不妊 | 直腸逸脱 | 肝の異常 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝脾腫 | 肝腫 | 肺性心 | 胃食道逆流 | 胆汁性肝硬変 | 脂肪便 | 脱水 | 腎結石 | 膵炎 | 輸精管欠損 | 閉塞性肺疾患 | 難聴 | 骨減少症 | 骨粗鬆症 | 高カルシウム尿 | 鼻ポリープ症" ] }, { "id": "NANDO:1200016", "label_en": "Charcot-Marie-Tooth disease", "label_ja": "シャルコー・マリー・トゥース病", "yomigana": "しゃるこー・まりー・とぅーすびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200016", "notificationNumber": "10", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200219", "label_en": "Oculopharyngodistal myopathy", "label_ja": "眼咽頭遠位型ミオパチー", "yomigana": "がんいんとうえんいがたみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200219", "notificationNumber": "30", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormality of facial musculature | Abnormality of masseter muscle | Abnormality of orbicularis oris muscle | Areflexia | Aspiration | Ataxia | Autophagic vacuoles | Autosomal dominant inheritance | Bilateral ptosis | Bowing of the vocal cords | Brain atrophy | Dilated cardiomyopathy | Distal amyotrophy | Distal lower limb amyotrophy | Distal lower limb muscle weakness | Distal muscle weakness | Distal upper limb amyotrophy | Distal upper limb muscle weakness | Dysarthria | Dysphagia | Dysphonia | EMG: myopathic abnormalities | EMG: myotonic discharges | Elevated circulating creatine kinase activity | External ophthalmoplegia | Facial palsy | Foot dorsiflexor weakness | Gait disturbance | High palate | High", "narrow palate | Hypercapnia | Hypernasal speech | Hypertrophic cardiomyopathy | Increased variability in muscle fiber diameter | Juvenile onset | Loss of ambulation | Middle age onset | Muscle spasm | Muscle weakness | Myopathic facies | Nasal dysarthria | Ophthalmoparesis | Oral-pharyngeal dysphagia | Paraplegia | Paroxysmal atrial fibrillation | Progressive distal muscle weakness | Progressive external ophthalmoplegia | Progressive proximal muscle weakness | Progressive ptosis | Progressive sensorineural hearing impairment | Proximal muscle weakness | Proximal upper limb muscle weakness | Ptosis | Recurrent aspiration pneumonia | Respiratory distress | Respiratory insufficiency due to muscle weakness | Restrictive ventilatory defect | Rimmed vacuoles | Sensorineural hearing impairment | Slowly progressive | Tibialis muscle weakness | Tongue muscle weakness | Tremor | Vocal cord paresis | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "ミオパチー顔貌 | 上肢の近位筋虚弱 | 不全麻痺 | 両側性眼瞼下垂 | 体重喪失 | 反復性誤嚥性肺炎 | 口腔咽頭嚥下障害 | 呼吸窮迫 | 嚥下障害 | 声帯不全麻痺 | 声帯湾曲 | 外眼筋麻痺 | 大脳白質の異常 | 常染色体顕性遺伝 | 感音難聴 | 拘束性肺疾患 | 拡張型心筋症 | 振戦 | 構音障害 | 歩行障害 | 無反射 | 発作性心房細動 | 発音障害 | 眼瞼下垂 | 眼筋不全麻痺 | 筋けいれん | 筋線維直径の多様性増加 | 筋虚弱 | 筋虚弱による呼吸不全 | 筋電図: ミオトニア放電 | 筋電図: ミオパチー異常 | 縁取り空胞 | 肥大型心筋症 | 脛骨筋虚弱 | 脳萎縮 | 自己貪食能性液胞 | 舌運動障害 | 血清 creatine phosphokinase上昇 | 誤嚥 | 足背屈筋虚弱 | 近位筋虚弱 | 進行性外眼筋麻痺 | 進行性感音難聴 | 進行性歩行不安定 | 進行性眼瞼下垂 | 進行性近位筋虚弱 | 進行性遠位筋虚弱 | 運動失調 | 遠位上肢筋萎縮 | 遠位上肢筋虚弱 | 遠位下肢筋萎縮 | 遠位下肢筋虚弱 | 遠位筋萎縮 | 遠位筋虚弱 | 顔面筋異常 | 顔面麻痺 | 高二酸化炭素症 | 高口蓋 | 高狭口蓋 | 鼻声の構音障害性発語 | 鼻声発語" ] }, { "id": "NANDO:2200196", "label_en": "bronchial stenosis", "label_ja": "気管支狭窄症", "yomigana": "きかんしきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200196", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200081", "label_en": "Bronchial tumour", "label_ja": "気管支腫瘍", "yomigana": "きかんししゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200081", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200764", "label_en": "Chronic mucocutaneous candidiasis", "label_ja": "慢性皮膚粘膜カンジダ症", "yomigana": "まんせいひふねんまくかんじだしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200764", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Abnormal dental enamel morphology | Abnormal endocardium morphology | Abnormal fingernail morphology | Abnormal lip morphology | Abnormal nail morphology | Abnormal toenail morphology | Abnormal vagina morphology | Abnormality of temperature regulation | Abnormality of the eye | Abnormality of the immune system | Abnormality of the mouth | Abnormality of the skin | Abnormality of vision | Broad nail | Cheilitis | Cough | Erythema | Feeding difficulties in infancy | Hematuria | Hemoptysis | Hepatitis | Hyperkeratosis | Papule | Pruritus | Recurrent infections | Recurrent respiratory infections | Recurrent urinary tract infections | Seizure | Skin rash | Skin ulcer" ], "symptoms_ja_list": [ "丘疹 | 体温調節の異常 | 免疫系の異常 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性感染症 | 口の異常 | 口唇の異常 | 口唇炎 | 喀血 | 外層 | 幅広い爪 | 心内膜の異常 | 指爪の異常 | 掻痒 | 歯エナメル質異常 | 爪の異常 | 発作 | 皮膚の異常 | 皮膚潰瘍 | 皮膚発疹 | 眼の異常 | 紅斑 | 肝炎 | 膣異常 | 血尿 | 視覚の異常 | 趾爪の異常 | 過角化症 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:2200549", "label_en": "Mucopolysaccharidosis type III", "label_ja": "ムコ多糖症III型", "yomigana": "むこたとうしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200549", "notificationNumber": "131", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal clavicle morphology | Abnormal facial shape | Abnormal mitral valve morphology | Abnormal myocardium morphology | Abnormal pyramidal sign | Abnormal rib morphology | Abnormal skeletal morphology | Abnormal vertebral body morphology | Abnormality of the dentition | Abnormality of the middle ear ossicles | Aggressive behavior | Aspiration pneumonia | Ataxia | Atrioventricular block | Atypical behavior | Avascular necrosis of the capital femoral epiphysis | Blindness | Cardiomegaly | Cataract | Central nervous system degeneration | Chronic otitis media | Coarse facial features | Coarse hair | Conductive hearing impairment | Constipation | Constriction of peripheral visual field | Constrictive median neuropathy | Corneal opacity | Craniofacial hyperostosis | Decreased circulating vitamin D concentration | Delayed speech and language development | Dementia | Developmental regression | Disinhibition | Dolichocephaly | Dysarthria | Dysostosis multiplex | Dysphagia | Flexion contracture | Gait disturbance | Generalized hirsutism | Genu valgum | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hip dysplasia | Hirsutism | Hydrocephalus | Hyperactive deep tendon reflexes | Hyperactivity | Hyperorality | Hypertonia | Increased susceptibility to fractures | Inguinal hernia | Intellectual disability | Intermittent diarrhea | Joint stiffness | Loss of ambulation | Macrocephaly | Macroglossia | Malabsorption | Mixed hearing impairment | Motor delay | Mucopolysacchariduria | Myopia | Nyctalopia | Obstructive sleep apnea | Opacification of the corneal stroma | Optic atrophy | Otitis media | Pigmentary retinopathy | Progressive neurologic deterioration | Protuberant abdomen | Recurrent sinopulmonary infections | Recurrent tonsillitis | Reduced bone mineral density | Reduced left ventricular ejection fraction | Respiratory tract infection | Retinal degeneration | Rod-cone dystrophy | Scoliosis | Seizure | Sensorineural hearing impairment | Severe intellectual disability | Sleep disturbance | Spasticity | Specific learning disability | Splenomegaly | Synophrys | Thick hair | Thick nasal alae | Thick vermilion border | Thickened helices | Umbilical hernia | Upper airway obstruction | Urinary glycosaminoglycan excretion | Ventriculomegaly | Vocal cord paresis" ], "symptoms_ja_list": [ "Dementia | ビタミンD欠乏症 | ムコ多糖症 | 上気道閉塞 | 中枢神経変性 | 中耳炎 | 中耳耳小骨の異常 | 伝音難聴 | 便秘 | 側弯 | 僧帽弁の異常 | 全身性多毛 | 分厚い唇紅部縁 | 分厚い毛髪 | 分厚い耳輪 | 分厚い鼻翼 | 反復性副鼻腔肺感染症 | 収縮性正中神経ニューロパチー | 口愛過度 | 吸収障害 | 呼吸器感染 | 嚥下障害 | 声帯不全麻痺 | 外反膝 | 多動 | 多毛 | 多発性異骨症 | 夜盲症 | 大動脈弁の異常 | 大腿骨骨頭骨端の無血管性壊死 | 大頭 | 尿中グリコサミノグリカン排泄 | 尿中硫酸ヘパラン排泄 | 屈曲拘縮 | 巨舌 | 心拡大 | 心筋の異常 | 感音難聴 | 慢性中耳炎 | 房室ブロック | 扁桃炎 | 攻撃的行動 | 易骨折性の増加 | 椎体骨形態異常 | 構音障害 | 歩行障害 | 歯の異常 | 水頭症 | 深部腱反射亢進 | 混合性難聴 | 特異的学習障害 | 異常な顔の形 | 痙性 | 発作 | 発語および言語発達遅延 | 発達退行 | 白内障 | 盲 | 睡眠障害 | 知的障害 | 知的障害", "重度 | 筋緊張亢進 | 粗い毛髪 | 粗な顔貌 | 網膜変性 | 肋骨の異常 | 肝腫 | 股関節異形成 | 脱抑制 | 脳室拡大 | 脾腫 | 腹部突出 | 臍ヘルニア | 色素性網膜炎 | 色素性網膜症 | 行動異常 | 視神経萎縮 | 視野狭窄 | 角膜混濁 | 角膜間質混濁形成 | 誤嚥性肺炎 | 近視 | 連続眉毛 | 進行性歩行不安定 | 進行性神経学的悪化 | 運動失調 | 運動発達遅滞 | 錐体路運動機能の異常 | 鎖骨の異常 | 長頭 | 閉塞性睡眠時無呼吸 | 間歇的下痢 | 関節拘縮 | 難聴 | 頭蓋顔面過骨症 | 駆出分画減少 | 骨ミネラル濃度減少 | 骨格形態の異常 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200676", "label_en": "Hemophilia A", "label_ja": "血友病Ａ", "yomigana": "けつゆうびょうえー", "url": "http://nanbyodata.jp/ontology/NANDO_2200676", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Abnormal bleeding | Abnormality of the elbow | Arthralgia | Autosomal dominant inheritance | Bleeding with minor or no trauma | Bruising susceptibility | Epistaxis | Gastrointestinal hemorrhage | Gingival bleeding | Hematemesis | Intracranial hemorrhage | Intramuscular hematoma | Joint hemorrhage | Joint swelling | Melena | Osteoarthritis | Persistent bleeding after trauma | Petechiae | Prolonged partial thromboplastin time | Purpura | Reduced factor VIII activity | Splenic rupture | Spontaneous hematomas | Thromboembolism | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | 下血 | 出血傾向 | 吐血 | 外傷後の持続性出血 | 常染色体顕性遺伝 | 歯肉出血 | 点状出血 | 異常な出血 | 第 VIII 因子活性の減少 | 筋内血腫 | 紫斑 | 肘異常 | 胃腸出血 | 脾破裂 | 自然血管腫 | 血栓塞栓症 | 軽微な外傷または外傷なしでの出血 | 部分的トロンボプラスチン時間遷延 | 関節出血 | 関節痛 | 関節腫脹 | 頭蓋内出血 | 骨関節炎 | 鼻出血" ] }, { "id": "NANDO:2201047", "label_en": "Familial pulmonary arterial hypertension", "label_ja": "家族性肺動脈性肺高血圧症", "yomigana": "かぞくせいはいどうみゃくせいはいこうけつあつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201047", "notificationNumber": "83", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100103", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100225", "label_en": "obsolete Inherited glycosylphosphatidylinositol deficiency", "label_ja": "obsolete 先天性グリコシルホスファチジルイノシトール欠損症", "yomigana": "せんてんせいぐりこしるほすふぁちじるいのしとーるけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100225", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100093", "label_en": "Subvalvular aortic stenosis", "label_ja": "大動脈弁下狭窄症", "yomigana": "だいどうみゃくべんかきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100093", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201420", "label_en": "Localized scleroderma/morphea", "label_ja": "限局性強皮症", "yomigana": "げんきょくせいきょうひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201420", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100304", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal bone structure | Abnormal cheek morphology | Abnormal facial skeleton morphology | Abnormal skin adnexa morphology | Abnormal upper lip morphology | Abnormality of the cardiovascular system | Abnormality of the dentition | Abnormality of the kidney | Abnormality of the nervous system | Abnormality of the nose | Abnormality of the respiratory system | Abnormality of vision | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Deeply set eye | Dental malocclusion | Erythema | Esophagitis | Facial asymmetry | Fasciitis | Flexion contracture | Focal impaired awareness seizure | Gastroesophageal reflux | Hashimoto thyroiditis | Headache | Hemifacial atrophy | Hyperpigmentation of the skin | Hypopigmented skin patches | Infra-orbital crease | Localized skin lesion | Migraine | Myopathy | Patchy alopecia | Progressive loss of facial adipose tissue | Proptosis | Sclerosis of finger phalanx | Seizure | Short dental root | Skeletal muscle atrophy | Skin erosion | Stroke | Thickened skin | Upper limb asymmetry | Uveitis | Vasculitis | Vitiligo" ], "symptoms_ja_list": [ "ブドウ膜炎 | ミオパチー | 上口唇の異常 | 上肢非対称 | 不整脈 | 不正咬合 | 低色素性皮膚斑 | 偏頭痛 | 分厚い皮膚 | 卒中 | 呼吸器の異常 | 屈曲拘縮 | 心血管系 | 意識または覚醒障害を伴う焦点性発作 | 指骨硬化症 | 斑状禿頭 | 橋本甲状腺炎 | 歯の異常 | 片側顔面萎縮 | 異常な皮膚水泡 | 発作 | 白斑 | 皮膚びらん | 皮膚付属器の異常 | 皮膚高色素 | 眼球突出 | 眼窩下の皺 | 短い歯根 | 神経系の異常 | 筋膜炎 | 筋萎縮 | 紅斑 | 胃食道逆流 | 腎異常 | 自己免疫 | 落ちくぼんだ眼 | 血管炎 | 視覚の異常 | 進行性顔面脂肪組織喪失 | 関節炎 | 関節痛 | 限局性皮膚病変 | 頬部の異常 | 頭痛 | 顔面非対称 | 顔面骨格異常 | 食道炎 | 骨構造異常 | 鼻の異常" ] }, { "id": "NANDO:1200176", "label_en": "Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome", "label_ja": "ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群", "yomigana": "みとこんどりあのうきんしょう・にゅうさんあしどーしす・のうそっちゅうようほっさしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200176", "notificationNumber": "21", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal central motor function | Abnormal left ventricular function | Abnormal mitochondria in muscle tissue | Agenesis of corpus callosum | Anemia | Anxiety | Aphasia | Aplasia/Hypoplasia of the cerebral white matter | Arrhythmia | Ataxia | Basal ganglia calcification | Bilateral sensorineural hearing impairment | Bilateral tonic-clonic seizure | Bipolar affective disorder | Brain atrophy | Cardiomyopathy | Cerebral cortical atrophy | Cerebral visual impairment | Concentric hypertrophic cardiomyopathy | Congestive heart failure | Constipation | Dementia | Depression | Developmental cataract | Diabetes mellitus | Diarrhea | Dilated cardiomyopathy | Distal peripheral sensory neuropathy | EEG abnormality | Elevated brain lactate level by MRS | Encephalopathy | Episodic vomiting | Erythema | Exercise intolerance | Failure to thrive | Fever | Fluctuations in consciousness | Focal segmental glomerulosclerosis | Focal-onset seizure | Gait disturbance | Gastrointestinal dysmotility | Global developmental delay | Growth abnormality | Hemianopia | Hemiparesis | Hypertension | Hypertrichosis | Hypertrophic cardiomyopathy | Hypogonadotropic hypogonadism | Hypoparathyroidism | Hypoplasia of the corpus callosum | Hypothyroidism | Impaired visuospatial constructive cognition | Increased CSF lactate | Increased CSF protein concentration | Increased circulating lactate concentration | Intestinal pseudo-obstruction | Lactic acidosis | Left ventricular hypertrophy | Memory impairment | Migraine | Mitochondrial inheritance | Mitochondrial myopathy | Mixed demyelinating and axonal polyneuropathy | Motor delay | Muscle weakness | Myoclonus | Myopathy | Nephropathy | Ophthalmoplegia | Optic atrophy | Peripheral axonal neuropathy | Peripheral neuropathy | Personality changes | Pigmentary retinopathy | Progressive external ophthalmoplegia | Progressive sensorineural hearing impairment | Proteinuria | Proximal tubulopathy | Psychosis | Psychotic mentation | Pulmonary arterial hypertension | Ragged-red muscle fibers | Recurrent pancreatitis | Recurrent paroxysmal headache | Reduced consciousness | Seizure | Sensorimotor neuropathy | Sensorineural hearing impairment | Short attention span | Short stature | Specific learning disability | Stroke-like episode | Type I diabetes mellitus | Type II diabetes mellitus | Variable expressivity | Visual loss | Vitiligo | Vomiting | Widened cerebral subarachnoid space | Wolff-Parkinson-White syndrome" ], "symptoms_ja_list": [ "Dementia | I 型糖尿病 | II 型糖尿病 | MRSによる脳尿酸値上昇 | Ragged-red 筋線維 | Wolff-Parkinson-White 症候群 | うっ血性心不全 | うつ | ミオクローヌス | ミオパチー | ミトコンドリアミオパチー | ミトコンドリア遺伝 | 下痢 | 不安 | 不整脈 | 両側性感音難聴 | 中枢性運動機能の異常 | 乳酸性アシドーシス | 低ゴナドトロピン性性腺機能低下症 | 低身長 | 便秘 | 偏頭痛 | 先天性白内障 | 全般性発達遅滞 | 全身性間代性強直性発作 | 副甲状腺機能低下症 | 半盲 | 卒中様エピソード | 双極性感情障害 | 反復性膵炎 | 嘔吐 | 嘔吐エピソード | 基底核石灰化 | 多毛症 | 大脳白質無形成/低形成 | 大脳皮質萎縮 | 失語症 | 巣状分節性糸球体硬化症 | 左室機能障害 | 左室肥大 | 幅広い大脳クモ膜下腔 | 心筋症 | 性格変化 | 意識下での線維束性収縮 | 意識減少/混乱 | 感覚運動ニューロパチー | 感音難聴 | 成長異常 | 成長障害 (成長不全) | 拡張型心筋症 | 末梢神経ニューロパチー | 末梢神経軸索ニューロパチー | 歩行障害 | 求心性肥大型心筋症 | 混合性脱髄性および軸索ポリニューロパチー | 焦点性発作 | 片側不全麻痺 | 特異的学習障害 | 甲状腺機能低下症 | 発作 | 発熱 | 白斑 | 皮質性視力障害 | 眼筋麻痺 | 短い注意期間 | 筋組織のミトコンドリア異常 | 筋虚弱 | 精神病 | 精神病的精神機能 | 糖尿病 | 紅斑 | 肥大型心筋症 | 肺高血圧 | 胃腸蠕動運動異常 | 脳梁低形成 | 脳梁無発生 of | 脳波異常 | 脳症 | 脳萎縮 | 腎症 | 腸偽閉塞 | 色素性網膜症 | 蛋白尿 | 血清乳酸増加 | 視力喪失 | 視神経萎縮 | 視空間建設的認知の障害 | 記憶障害 | 貧血 | 近位腎尿細管症 | 進行性外眼筋麻痺 | 進行性感音難聴 | 運動不耐症 | 運動失調 | 運動発達遅滞 | 遠位末梢感覚神経ニューロパチー | 頭痛 (褐色細胞腫を伴う) | 髄液タンパクの増加 | 髄液乳酸増加 | 高血圧" ] }, { "id": "NANDO:1201129", "label_en": "Hereditary cystatin C amyloidosis", "label_ja": "遺伝性シスタチンC アミロイドーシス", "yomigana": "いでんせいしすたちんしーあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201129", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201351", "label_en": "Spondyloperipheral dysplasia", "label_ja": "脊椎末梢異形成症", "yomigana": "せきついまっしょういけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201351", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal hip joint morphology | Abnormality of the vertebral endplates | Absent styloid process of ulna | Acetabular spurs | Arthralgia of the hip | Autosomal dominant inheritance | Barrel-shaped chest | Brachydactyly | Broad hallux | Broad palm | Broad thumb | Cataract | Cleft palate | Cone-shaped epiphyses of the phalanges of the hand | Congenital onset | Delayed pubic bone ossification | Depressed nasal bridge | Disproportionate short stature | Flat acetabular roof | Flat capital femoral epiphysis | Flattened epiphysis | Flattened femoral head | Hearing impairment | High myopia | Hip dysplasia | Hypoplasia of the ulna | Irregular epiphyses | Irregular vertebral endplates | Kyphosis | Limited elbow extension | Malar flattening | Midface retrusion | Myopia | Ovoid vertebral bodies | Pectus carinatum | Platyspondyly | Pugilistic facies | Retinal detachment | Rhizomelic arm shortening | Rhizomelic leg shortening | Sensorineural hearing impairment | Short distal phalanx of finger | Short distal phalanx of the 2nd finger | Short distal phalanx of the 3rd finger | Short distal phalanx of the 4th finger | Short distal phalanx of the 5th finger | Short foot | Short metacarpal | Short metatarsal | Short neck | Short stature | Short thumb | Short toe | Shortening of all middle phalanges of the fingers | Shortening of all proximal phalanges of the fingers | Spondyloepiphyseal dysplasia | Talipes | Type E brachydactyly" ], "symptoms_ja_list": [ "E型短指症 | はと胸 | ボクサー顔貌 | 不均衡型低身長 | 不規則な脊椎終板 | 不規則な骨端 | 低身長 | 卵形椎体骨 | 口蓋裂 | 四肢近位短縮性下肢短縮 | 四肢近位短縮性腕短縮 | 寛骨臼棘形成 | 尖足 | 尺骨低形成 | 常染色体顕性遺伝 | 幅広い手掌 | 幅広い母指 | 幅広い母趾 | 平坦な大腿骨頭 | 平坦な大腿骨骨頭骨端 | 平坦な寛骨臼蓋 | 平坦な頬 | 平坦な骨端 | 後弯 | 恥骨骨化遅延 | 感音難聴 | 扁平脊椎 | 指の全中節骨の短縮 | 指の全基節骨の短縮 | 指の指骨のの円錐骨端 | 樽状胸 | 白内障 | 短い中手骨 | 短い中足骨 | 短い指末節骨 | 短い母指 | 短い第2指末節骨 | 短い第3指末節骨 | 短い第4指末節骨 | 短い第5指末節骨 | 短い足 | 短い趾 | 短い頸部 | 短指症候群 | 網膜剥離 | 肘伸展制限 | 股関節異常 | 股関節異形成 | 股関節痛 | 脊椎終板の異常 | 脊椎骨端異形成 | 茎状突起欠損 | 落ちくぼんだ鼻梁 | 近視 | 重度近視 | 難聴 | 顔面中部後退" ] }, { "id": "NANDO:1200916", "label_en": "Type II biliary atresia", "label_ja": "II型胆道閉鎖症", "yomigana": "2がたたんどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200916", "notificationNumber": "296", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200036", "label_en": "Langerhans cell sarcoma", "label_ja": "ランゲルハンス細胞肉腫", "yomigana": "らんげるはんすさいぼうにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200036", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200663", "label_en": "Autosomal dominant thrombocytopenia 2", "label_ja": "常染色体優性遺伝性血小板減少症", "yomigana": "じょうせんしょくたいゆうせいいでんせいけっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200663", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [ "Abnormal platelet shape | Abnormal platelet volume | Autosomal dominant inheritance | Bruising susceptibility | Increased total leukocyte count | Thrombocytopenia" ], "symptoms_ja_list": [ "出血傾向 | 常染色体顕性遺伝 | 白血球増多症 | 血小板形の異常 | 血小板減少 | 血小板量の異常" ] }, { "id": "NANDO:1201089", "label_en": "Musculocontractural Ehlers-Danlos syndrome", "label_ja": "筋拘縮型エーラス・ダンロス症候群", "yomigana": "きんこうしゅくがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201089", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal bleeding | Abnormal heart morphology | Abnormal heart valve morphology | Abnormal mesentery morphology | Abnormal pinna morphology | Abnormal sternum morphology | Abnormality of the cervical spine | Arthrogryposis multiplex congenita | Astigmatism | Atlantoaxial dislocation | Atrophic scars | Blue sclerae | Bruising susceptibility | Cervical kyphosis | Cleft palate | Constipation | Craniosynostosis | Cryptorchidism | Decreased muscle mass | Decreased palmar creases | Delayed gross motor development | Disproportionate tall stature | Downslanted palpebral fissures | Dysesthesia | Functional abnormality of the bladder | Generalized joint hypermobility | Glaucoma | Hearing impairment | High palate | Horseshoe kidney | Hydronephrosis | Hyperextensible skin | Hypertelorism | Inguinal hernia | Kidney stone | Kyphoscoliosis | Large fontanelles | Long philtrum | Macrotia | Malrotation of small bowel | Microretrognathia | Muscle weakness | Myopathy | Myopia | Narrow mouth | Ocular hypertension | Pneumothorax | Posteriorly rotated ears | Prominent nasolabial fold | Protruding ear | Recurrent skin infections | Redundant skin | Retinal detachment | Scoliosis | Short nose | Slender finger | Strabismus | Subcutaneous hemorrhage | Tapered finger | Thin upper lip vermilion | Ventriculomegaly" ], "symptoms_ja_list": [ "ミオパチー | 不均衡型高身長 | 両眼隔離 | 乱視 | 便秘 | 停留精巣 | 側弯 | 先天性多発性関節拘縮 | 先細りの指 | 全身性関節弛緩 | 出血傾向 | 反復性皮膚感染症 | 口蓋裂 | 大きな泉門 | 大耳 | 小腸回転異常 | 小顎後退 | 後側弯 | 心弁の異常 | 心形態の異常 | 感覚異常 | 手掌屈曲線減少 | 斜視 | 気胸 | 水腎症 | 狭い口 | 環軸椎脱臼 | 異常な出血 | 皮下出血 | 目立つ鼻唇ヒダ | 眼内圧の増加 | 眼瞼裂斜下 | 短い鼻 | 筋虚弱 | 筋量減少 | 粗大運動発達遅延 | 細い指 | 網膜剥離 | 緑内障 | 耳介の異常 | 耳介後方回転 | 耳介聳立 | 胸骨の異常 | 脳室拡大 | 腎結石 | 腸間膜の異常 | 膀胱機能異常 | 萎縮性瘢痕 | 薄い上口唇唇紅部 | 近視 | 過伸展皮膚 | 過剰な皮膚 | 長い人中 | 難聴 | 青色胸膜 sclerae | 頚椎の異常 | 頚椎後弯 | 頭蓋合骨症 | 馬蹄腎 | 高口蓋 | 鼠径ヘルニア" ] }, { "id": "NANDO:1201032", "label_en": "Cerebral creatine deficiency syndromes", "label_ja": "脳クレアチン欠乏症候群", "yomigana": "のうくれあちんけつぼうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201032", "notificationNumber": "334", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200992", "label_en": "Harlequin ichthyosis", "label_ja": "道化師様魚鱗癬", "yomigana": "どうけしようぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_2200992", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [ "Autosomal recessive inheritance | Cataract | Congenital ichthyosiform erythroderma | Congenital onset | Death in infancy | Dehydration | Depressed nasal ridge | Eclabion | Ectropion | Erythroderma | Everted lower lip vermilion | Failure to thrive | Foot polydactyly | Hand polydactyly | Hearing abnormality | Hyperkeratosis | Ichthyosis | Limitation of joint mobility | Malignant hyperthermia | Motor delay | Neonatal death | Premature birth | Proptosis | Recurrent respiratory infections | Respiratory insufficiency | Rigidity | Self-injurious behavior | Short finger | Sudden cardiac death" ], "symptoms_ja_list": [ "下口唇唇紅部外反 | 先天性魚鱗癬型紅皮症 | 反復性呼吸器感染症 | 口唇外反 | 呼吸不全 | 外反(眼瞼) | 多指症 | 多趾症 | 常染色体潜性遺伝 | 悪性高体温症 | 成長障害 (成長不全) | 早産 | 白内障 | 眼球突出 | 短い指 | 硬直 | 突然心臓死 | 紅皮症 | 聴覚異常 | 脱水 | 自傷行動 | 落ちくぼんだ鼻梁 | 運動発達遅滞 | 過角化症 | 関節運動制限 | 魚鱗癬" ] }, { "id": "NANDO:1201116", "label_en": "Lowe syndrome", "label_ja": "ロウ症候群", "yomigana": "ろうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201116", "notificationNumber": "348", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal circulating calcium-phosphate regulating hormone concentration | Abnormal dental enamel morphology | Abnormal epiphysis morphology | Abnormal metaphysis morphology | Abnormal pupil morphology | Abnormal renal tubule morphology | Abnormal rib morphology | Abnormality of the dentition | Abnormality of the voice | Aggressive behavior | Amblyopia | Aminoaciduria | Anemia | Anxiety | Aphasia | Areflexia | Arthritis | Atelectasis | Attention deficit hyperactivity disorder | Atypical scarring of skin | Azoospermia | Benign neoplasm of the central nervous system | Bicarbonaturia | Buphthalmos | Camptodactyly of finger | Carious teeth | Cataract | Cheilitis | Chorioretinal dysplasia | Chronic otitis media | Clonus | Compulsive behaviors | Congenital onset | Constipation | Corneal opacity | Corneal scarring | Cryptorchidism | Death in infancy | Decreased circulating vitamin D concentration | Deep philtrum | Deeply set eye | Dehydration | Delayed eruption of teeth | Delayed puberty | Dense posterior cortical cataract | Dental crowding | Depression | Developmental cataract | Diabetes insipidus | EEG abnormality | Elevated amniotic fluid alpha-fetoprotein concentration | Elevated circulating creatine kinase activity | Elevated maternal circulating alpha-fetoprotein concentration | Elevated serum acid phosphatase | Enamel hypoplasia | Everted lower lip vermilion | Failure to thrive | Feeding difficulties in infancy | Fine hair | Flat occiput | Frontal bossing | Full cheeks | Gastroesophageal reflux | Generalized hypopigmentation | Genu valgum | Gingivitis | Glaucoma | Global developmental delay | Glomerulopathy | Hematuria | Hip dislocation | Hypercalciuria | Hypercholesterolemia | Hyperparathyroidism | Hyperphosphaturia | Hypoammonemia | Hypokalemia | Hyponatremia | Hypophosphatemia | Hypotonia | Increased circulating aldosterone concentration | Increased circulating lactate concentration | Inguinal hernia | Intellectual disability | Joint contracture of the hand | Joint hypermobility | Joint stiffness | Joint swelling | Keloids | Kidney stone | Kyphosis | Lacrimation abnormality | Lentiglobus | Long face | Long philtrum | Low-molecular-weight proteinuria | Malabsorption | Mandibular prognathia | Micrognathia | Microphthalmia | Motor stereotypy | Multiple renal cysts | Narrow palate | Neonatal hypotonia | Neoplasm of the skin | Nephrocalcinosis | Nystagmus | Odontogenic neoplasm | Oligosacchariduria | Open bite | Open mouth | Osteomalacia | Patellar dislocation | Pathologic fracture | Periodontitis | Periventricular cysts | Platyspondyly | Posteriorly rotated ears | Postnatal growth retardation | Proteinuria | Protruding ear | Proximal renal tubular acidosis | Recurrent fractures | Recurrent respiratory infections | Reduced visual acuity | Renal Fanconi syndrome | Renal insufficiency | Respiratory insufficiency | Rickets | Scoliosis | Seizure | Self-injurious behavior | Short stature | Skin ulcer | Sparse scalp hair | Stage 5 chronic kidney disease | Strabismus | Subcutaneous nodule | Taurodontia | Thin upper lip vermilion | Thrombocytopenia | Tooth agenesis | Umbilical hernia | Upslanted palpebral fissure | Urogenital fistula | Ventriculomegaly | Visual impairment | Wrist swelling | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うつ | くる病 | アミノ酸尿 | オリゴ糖尿 | カルシウム-リン代謝の異常 | クローヌス | ケロイド | ステージ5慢性腎疾患 | ビタミンD欠乏症 | 下口唇唇紅部外反 | 下顎突出 | 不安 | 中心視力減少 | 中枢神経良性新生物 | 低アンモニア血症 | 低カリウム血症 | 低ナトリウム血症 | 低リン血症 | 低分子量蛋白尿 | 低身長 | 便秘 | 停留精巣 | 側弯 | 先天性白内障 | 全般性発達遅滞 | 全身性低色素 | 前頭突出", "額突出 | 副甲状腺機能亢進症 | 反復性呼吸器感染症 | 反復性骨折 | 口唇炎 | 吸収障害 | 呼吸不全 | 声の異常 | 外反膝 | 多発性腎嚢胞 | 大きな頬 | 失語症 | 小眼球 | 小顎 | 尿崩症 | 屈指 | 常同行動 | 平坦な後頭 | 弱視 | 強迫性行動 | 後弯 | 思春期遅発 | 慢性中耳炎 | 成長障害 (成長不全) | 扁平脊椎 | 手関節拘縮 | 手関節腫脹 | 攻撃的行動 | 斜視 | 新生児筋緊張低下 | 歯の異常 | 歯エナメル質低形成 | 歯エナメル質異常 | 歯周炎 | 歯数の減少 number of teeth | 歯混雑 | 歯源性新生物 | 歯肉炎 | 歯萠出遅延 | 母体血清αフェトプロテイン高値 | 泌尿生殖器瘻 | 注意力欠陥多動性疾患 | 流涙異常 | 深い人中 | 濃い後皮質白内障 | 無反射 | 無気肺 | 無精子症 | 牛歯 | 牛眼 | 狭い口蓋 | 球形円錐水晶体 | 生後の成長遅滞 | 疎な頭髪 | 病的骨折 | 発作 | 白内障 | 皮下結節 | 皮膚新生物 | 皮膚潰瘍 | 眼振 | 眼瞼裂斜上 | 瞳孔の異常 | 知的障害 | 筋緊張低下 | 糸球体症 | 細い毛髪 | 緑内障 | 羊水中α-フェトプロテイン上昇 | 耳介後方回転 | 耳介聳立 | 肋骨の異常 | 股関節脱臼 | 胃食道逆流 | 脈絡膜網膜異形成 | 脱水 | 脳室周囲嚢胞 | 脳室拡大 | 脳波異常 | 腎不全 | 腎尿細管異常 | 腎性 Fanconi 症候群 | 腎石灰化症 | 腎結石 | 膝蓋骨脱臼 | 臍ヘルニア | 自傷行動 | 落ちくぼんだ眼 | 薄い上口唇唇紅部 | 蛋白尿 | 血小板減少 | 血尿 | 血清 creatine phosphokinase上昇 | 血清乳酸増加 | 血清酸性フォスファミリーターゼ上昇 | 視力障害 | 角膜混濁 | 角膜瘢痕 | 貧血 | 近位腎尿細管アシドーシス | 重炭酸尿 | 長い人中 | 長い顔 | 開口 | 開放咬合 | 関節拘縮 | 関節炎 | 関節腫脹 | 関節過動 | 非典型的皮膚瘢痕 | 食餌摂取障害 in infancy | 骨幹端の異常 | 骨端の異常 | 骨軟化症 | 高アルドステロン症 | 高カルシウム尿 | 高コレステロール血症 | 高リン尿 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2201223", "label_en": "Type 4 Farber disease", "label_ja": "新生児型ファーバー病", "yomigana": "しんせいじがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201223", "notificationNumber": "123", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100065", "label_en": "Congenital defect of the pericardium", "label_ja": "先天性心膜欠損症", "yomigana": "せんてんせいしんまくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100065", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200388", "label_en": "Hypogonadotropic hypogonadism", "label_ja": "ゴナドトロピン分泌低下症", "yomigana": "ごなどとろぴんぶんぷつていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200388", "notificationNumber": "78", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormality of body height | Abnormality of the dentition | Abnormality of the voice | Absence of pubertal development | Absence of secondary sex characteristics | Anxiety | Azoospermia | Breast hypoplasia | Camptodactyly | Cleft palate | Congenital sensorineural hearing impairment | Cryptorchidism | Decreased testicular size | Delayed puberty | Delayed skeletal maturation | Depressed nasal bridge | Depression | Eunuchoid habitus | Female hypogonadism | Generalized joint hypermobility | Gynecomastia | Hypertelorism | Hypogonadotropic hypogonadism | Hypoplasia of the ovary | Hypoplasia of the uterus | Impotence | Male hypogonadism | Micropenis | Non-obstructive azoospermia | Osteopenia | Osteoporosis | Phenotypic abnormality | Primary amenorrhea | Secondary amenorrhea | Sparse body hair | Wide intermamillary distance" ], "symptoms_ja_list": [ "うつ | インポテンス | 不安 | 両眼隔離 | 乳房低形成 | 二次性徴欠損 | 二次性無月経 | 低ゴナドトロピン性性腺機能低下症 | 停留精巣 | 先天性感音難聴 | 全身性関節弛緩 | 卵巣低形成 | 原発性無月経 | 口蓋裂 | 声の異常 | 女性型乳房 | 女性性腺機能低下症 hypogonadism | 子宮低形成 | 小陰茎 | 屈指 | 幅広い乳頭間距離 | 思春期発達欠損 | 思春期遅発 | 歯の異常 | 無精子症 | 男性性腺機能低下症 | 疎な体毛 | 精巣サイズ減少 | 落ちくぼんだ鼻梁 | 身長の異常 | 非閉塞性無精子症 | 類宦官体型 | 骨格骨化遅延 | 骨減少症 | 骨粗鬆症" ] }, { "id": "NANDO:1100015", "label_en": "obsolete Otorhinolaryngological disease", "label_ja": "obsolete 耳鼻科系疾患", "yomigana": "じびかけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100015", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100028", "label_en": "Lowe syndrome", "label_ja": "ロウ症候群", "yomigana": "ろうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100028", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201345", "label_en": "Achondrogenesis type 2", "label_ja": "軟骨無発生症2型", "yomigana": "なんこつむはっせいしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201345", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal bone ossification | Abnormal foot morphology | Abnormal vitreous humor morphology | Abnormality of the eye | Abnormally large globe | Absent vertebral body mineralization | Acromesomelia | Aplasia of the middle phalanges of the toes | Aplasia/Hypoplasia involving the metacarpal bones | Aplasia/Hypoplasia of metatarsal bones | Aplasia/Hypoplasia of the patella | Aplasia/Hypoplasia of the thumb | Autosomal dominant inheritance | Autosomal recessive inheritance | Barrel-shaped chest | Bowing of the long bones | Brachycephaly | Brachydactyly | Broad long bones | Cardiorespiratory arrest | Cataract | Cleft palate | Congenital onset | Cystic hygroma | Death in infancy | Delayed proximal femoral epiphyseal ossification | Delayed pubic bone ossification | Disproportionate short-limb short stature | Disproportionate short-trunk short stature | Edema | Fibular hypoplasia | Flexion contracture | Frontal bossing | Hearing impairment | Horizontal ribs | Hydrops fetalis | Hypoplasia of the radius | Hypoplasia of the ulna | Hypoplastic ilia | Hypoplastic iliac wing | Intellectual disability | Joint stiffness | Lens subluxation | Long philtrum | Micromelia | Microretrognathia | Midface retrusion | Myopia | Narrow chest | Pes valgus | Pierre-Robin sequence | Polyhydramnios | Postaxial hand polydactyly | Protuberant abdomen | Pulmonary hypoplasia | Retinal detachment | Sarcoma | Short digit | Short femur | Short foot | Short humerus | Short long bone | Short phalanx of finger | Short ribs | Short stature | Short tibia | Short toe | Short tubular bones of the hand | Skeletal dysplasia | Stillbirth | Synostosis of carpal bones | Tarsal synostosis | Valgus hand deformity" ], "symptoms_ja_list": [ "Pierre-Robin シークェンス | 不均衡型短肢低身長 | 不均衡性短躯低身長 | 中手骨無形成/低形成 | 中足骨無形成/低形成 | 低身長 | 前頭突出", "額突出 | 口蓋裂 | 外反手 | 外反足 | 大きな眼 | 小肢症 | 小顎後退 | 尺骨低形成 | 屈曲拘縮 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 幅広い長管骨 | 心肺停止 | 恥骨骨化遅延 | 手根骨癒合症 | 椎体骨ミネラル化欠損 | 樽状胸 | 橈骨低形成 | 母指無形成/低形成 | 水平肋骨 | 水晶体 亜脱臼 | 水滑性嚢腫 | 浮腫 | 狭い胸郭 | 白内障 | 眼の異常 | 知的障害 | 短い上腕骨 | 短い大腿骨 | 短い指趾 | 短い指骨 | 短い肋骨 | 短い脛骨 | 短い足 | 短い趾 | 短い長管骨 | 短い長管骨 (手) | 短指症候群 | 短頭 | 硝子体液の異常 | 網膜剥離 | 羊水過多 | 肉腫 | 肢端四肢中部短縮 | 肺低形成 | 胎児水腫 | 腓骨低形成 | 腸骨低形成 | 腸骨翼低形成 | 腹部突出 | 膝蓋骨無形成/低形成 | 足の異常 | 足根骨癒合症 | 趾の中節骨無形成 | 軸後性多指症 | 近位大腿骨骨端 | 近視 | 長い人中 | 長管骨湾曲 | 関節拘縮 | 難聴 | 顔面中部後退 | 骨の骨化異常 | 骨格異形成" ] }, { "id": "NANDO:1200816", "label_en": "Porphyria cutanea tarda", "label_ja": "晩発性皮膚ポルフィリン症", "yomigana": "ばんはつせいひふぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200816", "notificationNumber": "254", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal circulating enzyme concentration or activity | Abnormal circulating porphyrin concentration | Chronic hepatitis | Corneal scarring | Cutaneous photosensitivity | Diabetes mellitus | Ectropion | Elevated circulating hepatic transaminase concentration | Elevated circulating iron concentration | Elevated hepatic iron concentration | Fragile skin | Hematological neoplasm | Hepatic steatosis | Hepatocellular carcinoma | Hirsutism | Hyperpigmentation of the skin | Hypertrichosis | Hypopigmentation of the skin | Increased circulating ferritin concentration | Increased urinary porphobilinogen | Pain | Periportal fibrosis | Poor wound healing | Porphyrinuria | Recurrent bacterial skin infections | Scarring | Stage 5 chronic kidney disease | Systemic lupus erythematosus | Viral hepatitis" ], "symptoms_ja_list": [ "ウイルス性肝炎 | ステージ5慢性腎疾患 | ヘム生合成経路の異常 | ポルフィリン尿 | 傷治癒不全 | 全身性紅斑性狼瘡 | 反復性細菌性皮膚感染症 | 外反(眼瞼) | 多毛 | 多毛症 | 尿中ポルホビリノーゲン増加 | 慢性肝炎 | 異常な皮膚水泡 | 疼痛 | 瘢痕 | 皮膚低色素 | 皮膚光線過敏症 | 皮膚高色素 | 糖尿病 | 肝の鉄濃度上昇 | 肝トランスアミナーゼ上昇 | 肝細胞癌 | 脂肪肝 | 脆い皮膚 | 血液学的新生物 | 血清フェリチン増加 | 血清鉄増加 | 角膜瘢痕 | 門脈周囲線維症 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2201272", "label_en": "Secondary autoimmune hemolytic anemia", "label_ja": "続発性自己免疫性溶血性貧血", "yomigana": "ぞくはつせいじこめんえきせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2201272", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100181", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200429", "label_en": "Systemic sclerosis", "label_ja": "全身性強皮症", "yomigana": "ぜんしんせいきょうひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200429", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100155", "symptoms_en_list": [ "Abnormal esophagus morphology | Abnormal large intestine morphology | Abnormal phalangeal joint morphology of the hand | Abnormal pulmonary interstitial morphology | Abnormal small intestine morphology | Abnormal stomach morphology | Abnormality of facial soft tissue | Abnormality of the gastrointestinal tract | Abnormality of the kidney | Acral ulceration | Acute kidney injury | Albuminuria | Alopecia | Antinuclear antibody positivity | Arthralgia | Arthritis | Barrett esophagus | Bowel incontinence | Chronic kidney disease | Constrictive median neuropathy | Dysphagia | Dyspnea | Elevated circulating creatine kinase activity | Flexion contracture | Gangrene | Gastroesophageal reflux | Gastrointestinal telangiectasia | Gastroparesis | Glomerulonephritis | Hypohidrosis | Intestinal bleeding | Irregular hyperpigmentation | Joint swelling | Muscle weakness | Myalgia | Myocarditis | Nail bed telangiectasia | Narrow mouth | Osteolytic defects of the phalanges of the hand | Osteomyelitis | Pain | Pericarditis | Proteinuria | Pruritus | Pulmonary arterial hypertension | Pulmonary fibrosis | Recurrent skin infections | Renal insufficiency | Right ventricular failure | Sclerodactyly | Spotty hypopigmentation | Syncope | Telangiectasia | Thickened skin | Vascular dilatation" ], "symptoms_ja_list": [ "Barrett 食道 | アルブミン尿 | 不規則な高色素 | 分厚い皮膚 | 動脈瘤 | 反復性皮膚感染症 | 収縮性正中神経ニューロパチー | 右室不全 | 呼吸困難 | 嚥下障害 | 壊疽 | 大腸の異常 | 失心 | 小腸の異常 | 屈曲拘縮 | 強指症 | 心外膜炎 | 心筋炎 | 急性腎外傷 | 慢性腎疾患 | 手の指節関節の異常 | 抗核抗体陽性 | 指趾の自己切断となる肢端潰瘍 | 指骨の骨融解病変 | 掻痒 | 斑状低色素 | 毛細血管拡張 | 減汗症 | 爪床毛細血管拡張 | 狭い口 | 疼痛 | 禿頭 | 筋痛 | 筋虚弱 | 糸球体腎炎 | 肺線維症 | 肺高血圧 | 胃の異常 | 胃不全麻痺 | 胃腸毛細血管拡張 | 胃腸管の異常 | 胃食道逆流 | 腎不全 | 腎異常 | 腸出血 | 蛋白尿 | 血清 creatine phosphokinase上昇 | 遺糞症 | 間質性肺疾患 | 関節炎 | 関節痛 | 関節腫脹 | 顔面軟部組織異常 | 食道の異常 | 骨髄炎" ] }, { "id": "NANDO:1201114", "label_en": "α2-plasmin inhibitor deficiency", "label_ja": "α2-PI 欠乏症", "yomigana": "あるふぁー2-ぷらすみんいんひびたーけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201114", "notificationNumber": "347", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal bleeding | Abnormal umbilical stump bleeding | Autosomal recessive inheritance | Bone pain | Bruising susceptibility | Gingival bleeding | Hematuria | Hemothorax | Intracranial hemorrhage | Intramuscular hematoma | Joint hemorrhage | Persistent bleeding after trauma" ], "symptoms_ja_list": [ "出血傾向 | 外傷後の持続性出血 | 常染色体潜性遺伝 | 歯肉出血 | 異常な出血 | 異常な臍帯断端出血 | 筋内血腫 | 血尿 | 血性胸郭 | 関節出血 | 頭蓋内出血 | 骨痛" ] }, { "id": "NANDO:2200458", "label_en": "A20 haploinsufficiency", "label_ja": "A20ハプロ不全症", "yomigana": "えー20はぷろふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200458", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201469", "label_en": "Secondary Sjogren's syndrome", "label_ja": "二次性シェーグレン症候群", "yomigana": "にじせいしぇーぐれんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201469", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100074", "label_en": "Pulmonary atresia", "label_ja": "肺動脈閉鎖症 ", "yomigana": "はいどうみゃくへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100074", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200763", "label_en": "MyD88 deficiency", "label_ja": "MyD88欠損症", "yomigana": "みっど88 / まいでぃー88けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200763", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Autosomal recessive inheritance | Decreased total B cell count | Decreased total T cell count | Lymphadenitis | Recurrent meningitis | Recurrent skin infections | Sepsis | Septic arthritis" ], "symptoms_ja_list": [ "B リンパ球減少症 | T リンパ球減少症 | リンパ節炎 | 反復性皮膚感染症 | 反復性髄膜炎 | 常染色体潜性遺伝 | 敗血症 | 敗血症性関節炎" ] }, { "id": "NANDO:2201411", "label_en": "Pyridoxal 5'-phosphate-dependent epilepsy", "label_ja": "ピリドキサール依存症", "yomigana": "ぴりどきさーるいぞんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201411", "notificationNumber": "99", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100302", "symptoms_en_list": [ "Abnormal circulating arginine concentration | Abnormal circulating glycine concentration | Abnormal circulating histidine concentration | Abnormal circulating threonine concentration | Abnormal circulating tyrosine concentration | Abnormality of eye movement | Abnormality of the amniotic fluid | Anemia | Autosomal recessive inheritance | Axial hypotonia | Decreased CSF homovanillic acid concentration | EEG with burst suppression | Encephalopathy | Epileptic encephalopathy | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Global brain atrophy | Global developmental delay | Hypertonia | Hypoargininemia | Hypoglycemia | Increased circulating lactate concentration | Metabolic acidosis | Microcephaly | Myoclonus | Premature birth | Progressive microcephaly | Pyridoxine-responsive sideroblastic anemia | Rotary nystagmus | Seizure | Status epilepticus | Unsteady gait" ], "symptoms_ja_list": [ "てんかん性脳症 | てんかん重積 | アルギニン代謝の異常 | グリシン代謝の異常 | スレオニン代謝の異常 | チロシン代謝の異常 | ヒスチジンファミリーアミノ酸代謝の異常 | ピリドキシン反応性鉄芽球性貧血 | ミオクローヌス | 不安定歩行 | 代謝性アシドーシス | 低アルギニン血症 | 低血糖 | 体幹の筋緊張低下 | 全般性発達遅滞 | 全般性脳萎縮 | 回転性眼振 | 小頭 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 早産 | 発作 | 眼運動の異常 | 筋緊張亢進 | 羊水の異常 | 群発‐抑制交代を伴う脳波 | 脳症 | 血清乳酸増加 | 貧血 | 進行性小頭 | 食餌摂取障害 | 食餌摂取障害 in infancy | 髄液ホモバニリン酸(HVA)減少" ] }, { "id": "NANDO:2200305", "label_en": "Pulmonary valve regurgitation", "label_ja": "肺動脈弁閉鎖不全症", "yomigana": "はいどうみゃくべんへいさふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200305", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100105", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201303", "label_en": "Non-syndromic coronal craniosynostosis", "label_ja": "非症候性頭蓋骨縫合早期癒合症（冠状縫合）", "yomigana": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう（かんじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201303", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200249", "label_en": "Toxic epidermal necrolysis (particular form)", "label_ja": "中毒性表皮壊死症（特殊型）", "yomigana": "ちゅうどくせいひょうひえししょう（とくしゅがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200249", "notificationNumber": "39", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200107", "label_en": "Teratoma with malignant transformation", "label_ja": "悪性転化を伴う奇形腫", "yomigana": "あくせいてんかをともなうきけいしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200107", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200302", "label_en": "Congenital aplastic anemia", "label_ja": "先天性再生不良性貧血", "yomigana": "せんてんせいさいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200302", "notificationNumber": "60", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200126", "label_en": "Alpha-mannosidosis", "label_ja": "α-マンノシドーシス", "yomigana": "あるふぁまんのしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200126", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal helix morphology | Abnormal pyramidal sign | Abnormal rib cage morphology | Arthritis | Atypical behavior | Autosomal recessive inheritance | Avascular necrosis | Babinski sign | Bowing of the long bones | Broad forehead | Cataract | Cerebellar atrophy | Cerebral cortical atrophy | Chronic otitis media | Coarse facial features | Corneal opacity | Corpus callosum atrophy | Craniofacial hyperostosis | Decreased circulating immunoglobulin concentration | Delayed myelination | Delayed skeletal maturation | Dental malocclusion | Depressed nasal bridge | Depressed nasal ridge | Dysarthria | Dysostosis multiplex | Enlarged cisterna magna | Epicanthus | Femoral bowing | Flat occiput | Frontal bossing | Gait ataxia | Generalized abnormality of skin | Generalized hypotonia | Gingival overgrowth | Gliosis | Global developmental delay | Growth delay | Hallucinations | Hearing impairment | Hepatomegaly | Hip dysplasia | Hyperreflexia | Hypertelorism | Hypertrichosis | Hypoplastic inferior ilia | Hypotonia | Impaired smooth pursuit | Increased intracranial pressure | Increased vertebral height | Inguinal hernia | Intellectual disability | Kyphosis | Limb ataxia | Low anterior hairline | Macrocephaly | Macroglossia | Macrotia | Malar flattening | Mandibular prognathia | Midface retrusion | Narrow palate | Nystagmus | Open bite | Pectus carinatum | Prominent supraorbital ridges | Recurrent bacterial infections | Recurrent respiratory infections | Retinal degeneration | Scoliosis | Sensorineural hearing impairment | Short neck | Skeletal dysplasia | Spasticity | Spinocerebellar tract disease in lower limbs | Splenomegaly | Spondylolisthesis | Synostosis of joints | Thick eyebrow | Thickened calvaria | Thoracolumbar kyphosis | Type II diabetes mellitus | Vacuolated lymphocytes | Widely spaced teeth" ], "symptoms_ja_list": [ "Babinski サイン | II 型糖尿病 | はと胸 | 下肢の脊髄小脳路疾患 | 下顎突出 | 不正咬合 | 両眼隔離 | 低い前部毛髪線 | 低ガンマグロブリン血症 | 側弯 | 全般性発達遅滞 | 全身性皮膚異常 | 全身性筋緊張低下 | 内眼角贅皮 | 分厚い眉毛 | 分厚い頭蓋冠 | 前頭突出", "額突出 | 反射亢進 | 反復性呼吸器感染症 | 反復性細菌感染症 | 四肢失調 | 外耳輪の異常 | 多毛症 | 多発性異骨症 | 大槽拡大 | 大耳 | 大脳皮質萎縮 | 大腿骨湾曲 | 大頭 | 小脳萎縮 | 巨舌 | 常染色体潜性遺伝 | 幅広い額 | 平坦な後頭 | 平坦な頬 | 幻覚 | 後弯 | 感音難聴 | 慢性中耳炎 | 成長遅滞 | 構音障害 | 歩行失調 | 歯肉過成長 | 歯間隔離 | 滑らかな追視の障害 | 無菌性壊死 | 狭い口蓋 | 痙性 | 白内障 | 目立つ眼窩上縁 | 眼振 | 知的障害 | 短い頸部 | 神経膠症 | 空胞化リンパ球 | 筋緊張低下 | 粗な顔貌 | 網膜変性 | 肋骨胸郭の異常 | 肝腫 | 股関節異形成 | 胸腰椎後弯 | 脊椎すべり症 | 脊椎高の増加 | 脳梁萎縮 | 脾腫 | 腸骨下部低形成 | 落ちくぼんだ鼻梁 | 行動異常 | 角膜混濁 | 錐体路運動機能の異常 | 長管骨湾曲 | 開放咬合 | 関節炎 | 関節骨癒合症 | 難聴 | 頭蓋内圧の増加 | 頭蓋顔面過骨症 | 顔面中部後退 | 骨格異形成 | 骨格骨化遅延 | 髄鞘形成遅延 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200956", "label_en": "Benign adult familial myoclonus epilepsy", "label_ja": "良性成人型家族性ミオクローヌスてんかん", "yomigana": "りょうせいせいじんがたかぞくせいみおくろーぬすてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200956", "notificationNumber": "309", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Amaurosis fugax | EEG abnormality | Focal-onset seizure | Generalized-onset seizure | Hand tremor | Headache | Intellectual disability | Myoclonus" ], "symptoms_ja_list": [ "ミオクローヌス | 一過性黒内障 | 全身性発作 | 手振戦 | 焦点性発作 | 知的障害 | 脳波異常 | 頭痛" ] }, { "id": "NANDO:2200147", "label_en": "Nephro- and urolithiasis", "label_ja": "腎尿管結石", "yomigana": "じんにょうかんけっせき", "url": "http://nanbyodata.jp/ontology/NANDO_2200147", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100022", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200268", "label_en": "Incomplete atrioventricular septal defect", "label_ja": "不完全型房室中隔欠損症", "yomigana": "ふかんぜんがたぼうしつちゅうかくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200268", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100085", "symptoms_en_list": [ "Abnormal tricuspid valve morphology | Angina pectoris | Anomalous pulmonary venous return | Aortic valve stenosis | Atrial arrhythmia | Atrial flutter | Bacterial endocarditis | Bicuspid aortic valve | Coarctation of aorta | Common atrium | Double outlet right ventricle | Exercise-induced muscle fatigue | Exertional dyspnea | Hypoplastic left ventricle | Mitral regurgitation | Palpitations | Partial atrioventricular canal defect | Patent ductus arteriosus | Recurrent respiratory infections | Syncope | Tetralogy of Fallot | Transient ischemic attack" ], "symptoms_ja_list": [ "Fallot 四徴症 | 一過性虚血発作 | 三尖弁の異常 | 両大血管右室起始症 | 二弁性大動脈弁 | 僧帽弁逆流 | 動悸 | 動脈管開存症 | 単心房 | 原発性心房性不整脈 | 反復性呼吸器感染症 | 大動脈弁狭窄 | 大動脈縮窄 | 失心 | 左心低形成 | 心房粗動 | 狭心症 | 細菌性心内膜炎 | 肺静脈還流異常 | 運動性呼吸困難 | 運動誘発性筋疲労 | 部分的房室管欠損" ] }, { "id": "NANDO:1200120", "label_en": "Galactosialidosis, early infantile form", "label_ja": "新生児及び早期乳児型ガラクトシアリドーシス", "yomigana": "しんせいじおよびそうきにゅうじがたがらくとしありどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200120", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal bone marrow cell morphology | Abnormal facial shape | Abnormal macular morphology | Abnormality of metabolism/homeostasis | Abnormality of movement | Abnormality of the skeletal system | Ascites | Ataxia | Autosomal recessive inheritance | Bone-marrow foam cells | Cardiomegaly | Cardiomyopathy | Cataract | Cherry red spot of the macula | Coarse facial features | Corneal opacity | Death in childhood | Delayed speech and language development | Dysmetria | Dysostosis multiplex | Dysphonia | Dyspnea | Epiphyseal stippling | Facial edema | Flexion contracture | Generalized hypotonia | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrops fetalis | Hyperreflexia | Hypotonia | Increased urinary O-linked sialopeptides | Infantile onset | Inguinal hernia | Intellectual disability | Kyphosis | Muscle weakness | Myoclonus | Nephropathy | Nephrotic syndrome | Nystagmus | Osteoporosis | Pectus carinatum | Pedal edema | Pericardial effusion | Progressive visual loss | Proteinuria | Renal insufficiency | Seizure | Sensorineural hearing impairment | Severe intellectual disability | Short stature | Short thorax | Skeletal muscle atrophy | Slurred speech | Splenomegaly | Tremor | Umbilical hernia | Urinary excretion of sialylated oligosaccharides | Vacuolated lymphocytes" ], "symptoms_ja_list": [ "はと胸 | シアル化オリゴ糖の尿中排泄 | ネフローゼ症候群 | ミオクローヌス | 不明瞭言語 | 代謝/ホメオスターシスの異常 | 低身長 | 全般性発達遅滞 | 全身性筋緊張低下 | 反射亢進 | 呼吸困難 | 多発性異骨症 | 尿中 O-linked sialopeptides 増加 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弯 | 心外膜滲出液 | 心拡大 | 心筋症 | 感音難聴 | 振戦 | 浮腫 (下肢) | 測定障害 | 異常な顔の形 | 発作 | 発語および言語発達遅延 | 発音障害 | 白内障 | 眼振 | 知的障害 | 知的障害", "重度 | 短い胸郭 | 空胞化リンパ球 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗な顔貌 | 肝腫 | 胎児水腫 | 脾腫 | 腎不全 | 腎症 | 腹水 | 臍ヘルニア | 蛋白尿 | 角膜混濁 | 進行性視力喪失 | 運動の異常 | 運動失調 | 難聴 | 顔面浮腫 | 骨格の異常 | 骨端点状石灰化 | 骨粗鬆症 | 骨髄泡沫細胞 | 骨髄細胞形態の異常 | 黄斑のチェリーレッド斑 | 黄斑の異常 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200724", "label_en": "Chédiak-Higashi syndrome", "label_ja": "チェディアック・東症候群", "yomigana": "ちぇでぃあっく・ひがししょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200724", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Abnormal bleeding | Abnormal dense granules | Abnormal leukocyte morphology | Abnormal natural killer cell morphology | Abnormal neutrophil physiology | Abnormal platelet function | Abnormal retinal pigmentation | Abnormality of multiple cell lineages in the bone marrow | Abnormality of the nervous system | Anemia | Ataxia | Atrophy of alveolar ridges | Atrophy of the spinal cord | Autosomal recessive inheritance | Brain atrophy | Bruising susceptibility | Cerebellar atrophy | Cognitive impairment | Cranial nerve paralysis | Cutaneous photosensitivity | Decreased liver function | Decreased nerve conduction velocity | Decreased total leukocyte count | Decreased total neutrophil count | Dementia | Edema | Elevated circulating hepatic transaminase concentration | Epistaxis | Fever | Foot dorsiflexor weakness | Gait disturbance | Giant melanosomes in melanocytes | Gingival bleeding | Gingivitis | Hemophagocytosis | Hepatomegaly | Hepatosplenomegaly | Horizontal nystagmus | Hypertriglyceridemia | Hypofibrinogenemia | Hyponatremia | Hypopigmentation of hair | Hypopigmentation of the skin | Hypoproteinemia | Hyporeflexia | Immunodeficiency | Impaired neutrophil bactericidal activity | Inability to walk | Increased circulating ferritin concentration | Infantile onset | Intellectual disability | Iris hypopigmentation | Jaundice | Large clumps of pigment irregularly distributed along hair shaft | Lymphadenopathy | Macular hypoplasia | Motor polyneuropathy | Muscle weakness | Neonatal onset | Neurodegeneration | Nystagmus | Ocular albinism | Pancytopenia | Parkinsonism | Pericardial effusion | Periodontitis | Peripheral neuropathy | Photophobia | Pleural effusion | Progressive peripheral neuropathy | Recurrent bacterial infections | Recurrent bacterial skin infections | Recurrent infections | Recurrent respiratory infections | Recurrent staphylococcal infections | Recurrent systemic pyogenic infections | Reduced visual acuity | Rotary nystagmus | Seizure | Sensory neuropathy | Silver-gray hair | Skin rash | Somatic sensory dysfunction | Spastic paraplegia | Specific learning disability | Splenomegaly | Spontaneous", "recurrent epistaxis | Spotty hyperpigmentation | Strabismus | Thrombocytopenia | Tremor | Vacuolated lymphocytes | Young adult onset" ], "symptoms_ja_list": [ "Dementia | ナチュラルキラー細胞の異常 | パーキンソン症候群 | メラニン細胞の巨大メラノソーム | リンパ節腫大 | 中心視力減少 | 低タンパク血症 | 低ナトリウム血症 | 低フィブリノーゲン血症 | 免疫不全 | 出血傾向 | 反射低下 | 反復性ブドウ球菌感染症 | 反復性全身性化膿性感染症 | 反復性呼吸器感染症 | 反復性感染症 | 反復性細菌性皮膚感染症 | 反復性細菌感染症 | 回転性眼振 | 好中球殺菌能障害 | 好中球減少症 | 好中球生理の異常 | 小脳萎縮 | 常染色体潜性遺伝 | 心外膜滲出液 | 感覚ニューロパチー | 感覚障害 | 振戦 | 斑状高色素 | 斜視 | 末梢神経ニューロパチー | 歩行不能 | 歩行障害 | 歯周炎 | 歯槽隆起萎縮 | 歯肉出血 | 歯肉炎 | 毛髪低色素 | 毛髪軸に沿って不規則に分布した大きな色素の塊 | 水平性眼振 | 汎血球減少症 | 浮腫 | 特異的学習障害 | 異常な出血 | 痙性対麻痺 | 発作 | 発熱 | 白血球の異常 | 白血球減少症 | 皮膚低色素 | 皮膚光線過敏症 | 皮膚発疹 | 眼振 | 眼白子症 | 知的障害 | 神経変性 | 神経活動電位の振幅減少 | 神経系の異常 | 空胞化リンパ球 | 筋虚弱 | 網膜色素異常 | 羞明 | 肝トランスアミナーゼ上昇 | 肝機能低下 | 肝脾腫 | 肝腫 | 胸膜滲出液 | 脊髄萎縮 | 脳神経麻痺 | 脳萎縮 | 脾腫 | 自然反復性鼻出血 | 虹彩低色素 | 血小板機能の異常 | 血小板減少 | 血液貪食症 | 血清フェリチン増加 | 認知障害 | 貧血 | 足背屈筋虚弱 | 進行性末梢神経ニューロパチー | 運動失調 | 運動性ポリニューロパチー | 銀髪 | 骨髄の多細胞系の異常 | 高トリグリセリド血症 | 高密度顆粒異常 | 黄斑低形成 | 黄疸 | 鼻出血" ] }, { "id": "NANDO:1200105", "label_en": "Morquio syndrome", "label_ja": "モルキオ症候群", "yomigana": "もるきおしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200105", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal dental enamel morphology | Abnormal epiphysis morphology | Abnormal heart valve morphology | Abnormal metaphysis morphology | Abnormal rib morphology | Abnormality of the dentition | Anteverted nares | Bowing of the long bones | Carious teeth | Coarse facial features | Cognitive impairment | Corneal opacity | Coxa valga | Delayed skeletal maturation | Gait disturbance | Genu valgum | Grayish enamel | Hearing impairment | Hernia | Hyperlordosis | Joint dislocation | Joint hypermobility | Kyphosis | Macrocephaly | Mucopolysacchariduria | Pectus carinatum | Platyspondyly | Reduced bone mineral density | Scoliosis | Short neck | Short stature | Short thorax | Spinal canal stenosis | Wide mouth" ], "symptoms_ja_list": [ "はと胸 | ヘルニア | ムコ多糖症 | 上向きの鼻孔 | 低身長 | 側弯 | 前弯 | 外反股 | 外反膝 | 大頭 | 幅広い口 | 後弯 | 心弁の異常 | 扁平脊椎 | 歩行障害 | 歯の異常 | 歯エナメル質異常 | 灰色のエナメル質 | 短い胸郭 | 短い頸部 | 粗な顔貌 | 肋骨の異常 | 脊椎管狭窄 | 角膜混濁 | 認知障害 | 長管骨湾曲 | 関節脱臼 | 関節過動 | 難聴 | 骨ミネラル濃度減少 | 骨幹端の異常 | 骨格骨化遅延 | 骨端の異常 | 齲歯" ] }, { "id": "NANDO:1201007", "label_en": "Hutchinson-Gilford syndrome", "label_ja": "ハッチンソン・ギルフォード症候群", "yomigana": "はっちんそん・ぎるふぉーどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201007", "notificationNumber": "333", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal mitral valve morphology | Abnormal nasal tip morphology | Abnormal thorax morphology | Abnormally high-pitched voice | Absence of subcutaneous fat | Absent eyebrow | Alopecia | Alopecia totalis | Angina pectoris | Ankyloglossia | Aortic regurgitation | Aortic valve calcification | Aortic valve stenosis | Atherosclerosis | Autosomal dominant inheritance | Autosomal recessive inheritance | Avascular necrosis | Carotid artery occlusion | Conductive hearing impairment | Congestive heart failure | Convex nasal ridge | Corneal opacity | Corneal ulceration | Coxa valga | Craniofacial disproportion | Cyanosis | Decreased serum leptin | Delayed eruption of teeth | Delayed menarche | Dental crowding | Dermal atrophy | Dystrophic fingernails | Dystrophic toenail | Ectopic calcification | Exertional dyspnea | Female hypogonadism | Generalized abnormality of skin | Growth delay | High palate | High-frequency sensorineural hearing impairment | Hip dislocation | Hypermelanotic macule | Hypertension | Hypodontia | Hypoplastic male external genitalia | Impacted tooth | Insulin resistance | Intracranial hemorrhage | Joint stiffness | Lack of skin elasticity | Limitation of joint mobility | Limitation of movement at ankles | Limited hip movement | Limited shoulder movement | Limited wrist movement | Loss of eyelashes | Low-frequency sensorineural hearing impairment | Malar flattening | Micrognathia | Midface retrusion | Mitral regurgitation | Mitral stenosis | Mitral valve calcification | Myocardial infarction | Narrow mouth | Narrow nasal ridge | Narrow nasal tip | Osteoarthritis | Osteolysis | Osteolytic defects of the distal phalanges of the hand | Papule | Patchy alopecia | Persistence of primary teeth | Precocious atherosclerosis | Premature coronary artery atherosclerosis | Premature skin wrinkling | Progressive clavicular acroosteolysis | Prominent ear helix | Prominent superficial blood vessels | Prominent umbilicus | Pubertal developmental failure in females | Pulmonary arterial hypertension | Reduced bone mineral density | Relative macrocephaly | Retrognathia | Severe failure to thrive | Shallow orbits | Short chin | Short clavicles | Short lingual frenulum | Shuffling gait | Stroke | Thin vermilion border | Transient ischemic attack | Upper airway obstruction | Ventricular hypertrophy | Weight loss" ], "symptoms_ja_list": [ "うっ血性心不全 | ひきずり歩行 | インスリン抵抗性 | チアノーゼ | メラニン増加性斑 | 一過性虚血発作 | 上気道閉塞 | 下顎後退 | 丘疹 | 乳歯遺残 | 伝音難聴 | 低音感音難聴 | 体重喪失 | 僧帽弁の異常 | 僧帽弁狭窄 | 僧帽弁石灰化 | 僧帽弁逆流 | 全禿頭 | 全身性皮膚異常 | 凸の鼻梁 | 初潮遅延 | 動脈硬化症 | 卒中 | 埋伏歯 | 外反股 | 大動脈弁の異常 | 大動脈弁狭窄 | 大動脈弁石灰化 | 大動脈逆流 | 女性での思春期発達不全 | 女性性腺機能低下症 hypogonadism | 小顎 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 平坦な頬 | 心室肥大 | 心筋梗塞 | 成長遅滞 | 手の末節骨のの骨融解病変 | 手関節運動制限 | 指爪ジストロフィー | 斑状禿頭 | 早発性冠動脈疾患 | 早発性動脈硬化症 | 早発性皮膚皺 | 歯混雑 | 歯萠出遅延 | 比較的大頭 | 浅い眼窩 | 減歯症 | 無菌性壊死 | 狭い口 | 狭い鼻尖 | 狭い鼻梁 | 狭心症 | 男性外性器低形成 | 異所性石灰化 | 皮下脂肪の異常 | 皮膚弾性欠如 | 皮膚萎縮 | 目立つ体表血管 | 目立つ耳輪 | 眉毛欠損 | 睫毛喪失 | 短い下顎 | 短い舌小帯 | 短い鎖骨 | 禿頭 | 股関節脱臼 | 股関節運動制限 | 肩運動制限 | 肺高血圧 | 胸郭の異常 | 臍突出 | 舌癒着 | 薄い唇紅部縁 | 血清レプチン減少 | 角膜混濁 | 角膜潰瘍 | 足関節運動制限 | 趾爪ジストロフィー | 進行性鎖骨先端骨融解 | 運動性呼吸困難 | 重度の成長障害 (成長不全) | 関節拘縮 | 関節運動制限 | 頚動脈閉塞 | 頭蓋内出血 | 頭蓋顔面不均衡 | 顔面中部後退 | 骨ミネラル濃度減少 | 骨融解 | 骨関節炎 | 高口蓋 | 高血圧 | 高音の声 | 高音感音難聴 | 鼻尖の異常" ] }, { "id": "NANDO:3000002", "label_en": "Growth disorder, intellectual disability, and distinctive facial features", "label_ja": "成長障害・知的障害・特徴的な顔貌群", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_3000002", "notificationNumber": "", "obsolete": 1, "category": "other", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201129", "label_en": "Infantile-onset carnitine palmitoyl transferase I deficiency", "label_ja": "乳児期発症型カルニチンパルミトイルトランスフェラーゼI欠損症", "yomigana": "にゅうじきはっしょうがたかるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201129", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200744", "label_en": "Spondylo enchondro-dysplasiawith immune dysregulation", "label_ja": "SPENCDI", "yomigana": "えすぴーいーえぬしーでぃーあい", "url": "http://nanbyodata.jp/ontology/NANDO_2200744", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Abnormal periventricular white matter morphology | Abnormality of the nervous system | Antinuclear antibody positivity | Arthritis | Autoimmune hemolytic anemia | Autoimmune thrombocytopenia | Autoimmunity | Autosomal recessive inheritance | Barrel-shaped chest | Bowing of the legs | Cellular immunodeficiency | Cerebral calcification | Childhood onset | Chorea | Chronic kidney disease | Combined immunodeficiency | Congenital onset | Decreased response to growth hormone stimulation test | Decreased total T cell count | Decreased total lymphocyte count | Decreased total neutrophil count | Delayed eruption of teeth | Dental malocclusion | Disproportionate short-trunk short stature | Frontal bossing | Global developmental delay | Headache | Hematuria | Hepatitis | Hypermelanotic macule | Hypertension | Hypopigmented skin patches on arms | Hypoplastic ilia | Hypothyroidism | Immune dysregulation | Intellectual disability | Irregular vertebral endplates | Joint swelling | Juvenile onset | Juvenile rheumatoid arthritis | Kyphoscoliosis | Kyphosis | Limb undergrowth | Low-set ears | Lower limb pain | Lumbar hyperlordosis | Lymphadenopathy | Metaphyseal dysplasia | Metaphyseal irregularity | Metaphyseal sclerosis | Metaphyseal widening | Midface retrusion | Mild intellectual disability | Motor delay | Myalgia | Narrow nose | Pancytopenia | Pectus carinatum | Platyspondyly | Pneumonia | Progressive spastic quadriplegia | Proteinuria | Purpura | Recurrent infections | Recurrent otitis media | Recurrent respiratory infections | Recurrent sinusitis | Restrictive ventilatory defect | Rheumatoid arthritis | Sclerosis of skull base | Scoliosis | Seizure | Short distal phalanx of finger | Short iliac bones | Short stature | Skin rash | Spastic diplegia | Spasticity | Spondylometaphyseal dysplasia | Systemic lupus erythematosus | Tubulointerstitial fibrosis | Turricephaly | Vasculitis | Ventriculomegaly | Vitiligo" ], "symptoms_ja_list": [ "T リンパ球減少症 | はと胸 | メラニン増加性斑 | リンパ球減少症 | リンパ節腫大 | 下肢湾曲 | 下肢痛 | 不均衡性短躯低身長 | 不正咬合 | 不規則な脊椎終板 | 低身長 | 側弯 | 免疫調節障害 | 全般性発達遅滞 | 全身性紅斑性狼瘡 | 前頭突出", "額突出 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性呼吸器感染症 | 反復性感染症 | 四肢成長不全 | 塔状頭 | 大脳石灰化 | 好中球減少症 | 尿細管間質 線維症 | 常染色体潜性遺伝 | 後側弯 | 後弯 | 慢性腎疾患 | 成長ホルモン欠乏症 | 扁平脊椎 | 抗核抗体陽性 | 拘束性肺疾患 | 樽状胸 | 歯萠出遅延 | 汎血球減少症 | 狭い鼻 | 甲状腺機能低下症 | 痙性 | 痙性両麻痺 | 発作 | 白斑 | 皮膚発疹 | 知的障害 | 知的障害", "軽度 | 短い指末節骨 | 短い腸骨 | 神経系の異常 | 筋痛 | 紫斑 | 細胞免疫不全 | 耳介低位 | 肝炎 | 肺炎 | 脊椎骨幹端異形成 | 脳室周囲白質の異常 | 脳室拡大 | 腕の低色素性皮膚斑 | 腰椎前弯 hyperlordosis | 腸骨低形成 | 自己免疫 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 舞踏病 | 若年性関節リウマチ | 蛋白尿 | 血尿 | 血管炎 | 複合型免疫不全 | 進行性痙性四肢麻痺 | 運動発達遅滞 | 関節リウマチ | 関節炎 | 関節腫脹 | 頭痛 | 頭蓋底硬化症 | 顔面中部後退 | 骨幹端不規則性 | 骨幹端拡大 | 骨幹端異形成 | 骨幹端硬化症 | 高血圧" ] }, { "id": "NANDO:1200111", "label_en": "Sly syndrome", "label_ja": "Sly病", "yomigana": "すらいびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200111", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal heart valve morphology | Abnormal hip bone morphology | Abnormal pleura morphology | Accelerated skeletal maturation | Acetabular dysplasia | Airway obstruction | Anterior beaking of lower thoracic vertebrae | Anterior beaking of lumbar vertebrae | Arteriovenous malformation | Ascites | Autosomal recessive inheritance | Cardiomyopathy | Chronic bronchitis | Coarse facial features | Coarse hair | Corneal opacity | Dermatan sulfate excretion in urine | Diaphyseal undertubulation | Diastasis recti | Dysostosis multiplex | Enlarged thorax | Epicanthus | Epiphyseal stippling | Facial asymmetry | Fetal onset | Flat face | Flexion contracture | Genu valgum | Gingival overgrowth | Hearing impairment | Heparan sulfate excretion in urine | Hepatitis | Hepatomegaly | Hirsutism | Hydrocephalus | Hydrops fetalis | Hypoplasia of the odontoid process | Hypotonia | Infantile onset | Inguinal hernia | Intellectual disability | J-shaped sella turcica | Joint stiffness | Kyphosis | Large iliac wing | Limitation of joint mobility | Lymphedema | Macrocephaly | Macroglossia | Metatarsus adductus | Motor delay | Mucopolysacchariduria | Narrow greater sciatic notch | Neurodegeneration | Obstructive sleep apnea | Pectus carinatum | Pectus excavatum | Photophobia | Platyspondyly | Poor speech | Postnatal growth retardation | Protuberant abdomen | Proximal tapering of metacarpals | Recurrent otitis media | Recurrent respiratory infections | Recurrent upper respiratory tract infections | Scoliosis | Sensorineural hearing impairment | Severe short stature | Short neck | Short stature | Spatulate ribs | Splenomegaly | Talipes equinovarus | Thick eyebrow | Thoracolumbar kyphosis | Umbilical hernia | Urinary glycosaminoglycan excretion | Visual impairment | Widely spaced teeth" ], "symptoms_ja_list": [ "J字型トルコ鞍 | はと胸 | へら状肋骨 | ムコ多糖症 | リンパ性浮腫 | 下部胸椎のくちばし状前方突出 | 中手骨の近位の先細り | 低身長 | 側弯 | 内反尖足 | 内眼角贅皮 | 内転中足骨 | 分厚い眉毛 | 動静脈奇形 | 反復性上気道感染症 | 反復性中耳炎 | 反復性呼吸器感染症 | 外反膝 | 多毛 | 多発性異骨症 | 大きな腸骨翼 | 大頭 | 寛骨の異常 | 寛骨臼異形成 | 尿中グリコサミノグリカン排泄 | 尿中硫酸デルマタン排泄 | 尿中硫酸ヘパラン排泄 | 屈曲拘縮 | 巨舌 | 常染色体潜性遺伝 | 平坦な顔 | 後弯 | 心弁の異常 | 心筋症 | 感音難聴 | 慢性気管支炎 | 扁平脊椎 | 歯状突起低形成 | 歯肉過成長 | 歯間隔離 | 水頭症 | 漏斗胸 | 狭い大仙坐骨切痕 | 生後の成長遅滞 | 発語不全 | 知的障害 | 短い頸部 | 神経変性 | 筋緊張低下 | 粗い毛髪 | 粗な顔貌 | 羞明 | 肝炎 | 肝腫 | 胎児水腫 | 胸腰椎後弯 | 胸膜の異常 | 胸郭拡大 | 脾腫 | 腰椎のくちばし状前方突出 | 腹水 | 腹直筋離開 | 腹部突出 | 臍ヘルニア | 視力障害 | 角膜混濁 | 運動発達遅滞 | 重度の低身長 | 閉塞性睡眠時無呼吸 | 閉塞性肺疾患 | 関節拘縮 | 関節運動制限 | 難聴 | 顔面非対称 | 骨幹の肥厚 | 骨成熟促進 | 骨端点状石灰化 | 鼠径ヘルニア" ] }, { "id": "NANDO:2100267", "label_en": "obsolete Congenital hepatic fibrosis", "label_ja": "obsolete 先天性肝線維症", "yomigana": "せんてんせいかんせんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100267", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200805", "label_en": "Classic citrullinemia", "label_ja": "古典型シトルリン血症", "yomigana": "こてんがたしとるりんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200805", "notificationNumber": "251", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of the nervous system | Ankle clonus | Ataxia | Autosomal recessive inheritance | Borderline intellectual disability | Cerebral edema | Cirrhosis | Coma | Elevated plasma citrulline | Episodic ammonia intoxication | Failure to thrive | Feeding difficulties | Gastroesophageal reflux | Global developmental delay | Headache | Hepatic encephalopathy | Hepatic failure | Hepatomegaly | Hyperammonemia | Hyperglutaminemia | Hypoargininemia | Hypotonia | Increased intracranial pressure | Infantile onset | Intellectual disability | Irritability | Juvenile onset | Lethargy | Loss of consciousness | Migraine | Mild intellectual disability | Moderate intellectual disability | Neonatal onset | Oroticaciduria | Protein avoidance | Respiratory alkalosis | Scotoma | Seizure | Slurred speech | Spasticity | Stroke | Tachypnea | Torticollis | Vomiting" ], "symptoms_ja_list": [ "アンモニア中毒エピソード | オロチン酸尿 | 不明瞭言語 | 低アルギニン血症 | 偏頭痛 | 全般性発達遅滞 | 卒中 | 嘔吐 | 多呼吸 | 大脳浮腫 | 常染色体潜性遺伝 | 意識喪失 | 成長障害 (成長不全) | 斜頚 | 昏睡 | 暗点 | 活性減少アルカローシス | 無気力 | 痙性 | 発作 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "境界域 | 知的障害", "軽度 | 神経系の異常 | 筋緊張低下 | 肝不全 | 肝性脳症 | 肝硬変 | 肝腫 | 胃食道逆流 | 蛋白回避 | 血漿シトルリン上昇 | 被刺激性 | 足クローヌス | 運動失調 | 頭痛 | 頭蓋内圧の増加 | 食餌摂取障害 | 高アンモニア血症 | 高グルタミン血症" ] }, { "id": "NANDO:2201064", "label_en": "Mixed-type Takayasu arteritis", "label_ja": "混合型高安動脈炎", "yomigana": "こんごうがたたかやすどうみゃくえん", "url": "http://nanbyodata.jp/ontology/NANDO_2201064", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100153", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200187", "label_en": "Sporadic Creutzfeldt-Jakob disease", "label_ja": "孤発性クロイツフェルト・ヤコブ病", "yomigana": "こはつせいくろいつふぇると・やこぶびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200187", "notificationNumber": "23", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormality of extrapyramidal motor function | Akinetic mutism | Apathy | Astrocytosis | Ataxia | Atypical behavior | Babinski sign | Cerebral atrophy | Cerebral cortex with spongiform changes | Cognitive impairment | Confusion | Dementia | Depression | Emotional lability | Fatigue | Gliosis | Headache | Hyperactive deep tendon reflexes | Hypsarrhythmia | Increased CSF protein concentration | Irritability | Loss of speech | Memory impairment | Myoclonus | Neuronal loss in central nervous system | Recurrent aspiration pneumonia | Recurrent infections | Respiratory failure requiring assisted ventilation | Sepsis | Sleep disturbance | Spasticity | Upper motor neuron dysfunction | Vertigo | Visual hallucination | Visual impairment" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | うつ | ヒプスアリスミア | ミオクローヌス | 中枢神経のニューロン喪失 | 反復性感染症 | 反復性誤嚥性肺炎 | 大脳萎縮 | 情動不安定 | 敗血症 | 星状細胞増加; | 海綿状変化を伴う大脳皮質 | 深部腱反射亢進 | 無動性無言症 | 無関心", "感情鈍磨 | 疲労 | 痙性 | 発語喪失 | 皮質脊髄路機能障害 | 眩暈 | 睡眠障害 | 神経膠症 | 行動異常 | 被刺激性 | 補助換気が必要な呼吸不全 | 視力障害 | 視覚的幻覚 | 記憶障害 | 認知障害 | 運動失調 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 錯乱 | 頭痛 | 髄液タンパクの増加" ] }, { "id": "NANDO:2200347", "label_en": "Autoimmune polyendocrinopathy type 2", "label_ja": "自己免疫性多内分泌腺症候群2型", "yomigana": "じこめんえきせいたないぶんぴつせんしょうこうぐん 2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200347", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100125", "symptoms_en_list": [ "Abnormality of the musculature | Abnormality of the thyroid gland | Alopecia | Asplenia | Autosomal dominant inheritance | Autosomal recessive inheritance | Band keratopathy | Cataract | Celiac disease | Chronic hepatitis | Cirrhosis | Exocrine pancreatic insufficiency | Graves disease | Hashimoto thyroiditis | Hepatitis | Hyperthyroidism | Hypogonadism | Hypoparathyroidism | Hypopigmented skin patches | Hypothyroidism | Iron deficiency anemia | Keratoconjunctivitis | Non-Mendelian inheritance | Primary adrenal insufficiency | Recurrent mucocutaneous candidiasis | Seizure | Steatorrhea | Tetany | Thymoma | Type I diabetes mellitus | Type II diabetes mellitus" ], "symptoms_ja_list": [ "Graves 病 | I 型糖尿病 | II 型糖尿病 | セリアック秒 | テタニー | 低色素性皮膚斑 | 副甲状腺機能低下症 | 原発性副腎不全 | 外分泌性膵不全 | 多因子遺伝 | 帯状角膜症 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 性腺機能低下症 | 慢性粘膜皮膚カンジダ症 | 慢性肝炎 | 橋本甲状腺炎 | 無脾症 | 甲状腺機能亢進症 | 甲状腺機能低下症 | 甲状腺異常 | 発作 | 白内障 | 禿頭 | 筋の異常 | 肝炎 | 肝硬変 | 胸腺腫 | 脂肪便 | 角結膜炎 | 鉄欠乏症貧血" ] }, { "id": "NANDO:2100148", "label_en": "Multiple endocrine neoplasia", "label_ja": "多発性内分泌腫瘍", "yomigana": "たはつせいないぶんぴつしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2100148", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100034", "label_en": "Primary ciliary dyskinesia", "label_ja": "線毛機能不全症候群", "yomigana": "せんもうきのうふぜんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100034", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201448", "label_en": "Type 1 total anomalous pulmonary venous connection", "label_ja": "総肺静脈還流異常症I型", "yomigana": "そうはいじょうみゃくかんりゅういじょうしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201448", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100088", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200660", "label_en": "Congenital thrombocytopenia with radio-ulnar synostosis", "label_ja": "橈骨尺骨融合を伴う血小板減少症", "yomigana": "とうこつしゃっこつゆうごうをともなうけっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200660", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [ "Amegakaryocytic thrombocytopenia | Clinodactyly of the 5th finger | Finger syndactyly | Hip dysplasia | Radioulnar synostosis | Sensorineural hearing impairment" ], "symptoms_ja_list": [ "合指症 | 感音難聴 | 橈尺骨癒合 | 無巨核球性血小板減少 | 第5指弯指 | 股関節異形成" ] }, { "id": "NANDO:1200868", "label_en": "Pyogenic arthritis, pyoderma gangrenosum, acne syndrome", "label_ja": "化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群", "yomigana": "かのうせいむきんせいかんせつえん・えそせいのうひしょう・あくねしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200868", "notificationNumber": "269", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Acne | Allergy | Arthralgia | Arthritis | Autosomal dominant inheritance | Cellulitis | Colitis | Crohn's disease | Elbow flexion contracture | Elevated circulating C-reactive protein concentration | Fatigue | Fever | Hepatosplenomegaly | Increased circulating immunoglobulin concentration | Increased inflammatory response | Knee flexion contracture | Limitation of joint mobility | Lymphadenopathy | Microcytic anemia | Myositis | Pancytopenia | Proteinuria | Pustule | Skin ulcer | Thrombocytosis | Type I diabetes mellitus" ], "symptoms_ja_list": [ "?瘡 | CRP 上昇 | Crohn 病 | I 型糖尿病 | アレルギー | リンパ節腫大 | 小球性貧血 | 常染色体顕性遺伝 | 汎血球減少症 | 炎症反応増加 | 疲労 | 発熱 | 皮膚潰瘍 | 筋炎 | 結腸炎 | 肘屈曲拘縮 | 肝脾腫 | 膝屈曲拘縮 | 膿疱 | 蛋白尿 | 蜂巣織炎 | 血小板増多症 | 関節炎 | 関節痛 | 関節運動制限 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2100164", "label_en": "Disorder of carbohydrate metabolism", "label_ja": "糖質代謝異常症", "yomigana": "とうしつたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100164", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200689", "label_en": "Emanuel syndrome", "label_ja": "エマヌエル症候群", "yomigana": "えまぬえるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200689", "notificationNumber": "204", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormality of the ankle | Agenesis of corpus callosum | Anal atresia | Aortic valve stenosis | Astigmatism | Atrial septal defect | Bifid uvula | Breech presentation | Broad jaw | Cerebral atrophy | Chiari malformation | Cleft palate | Congenital diaphragmatic hernia | Congenital hip dislocation | Congenital onset | Constipation | Cough | Cryptorchidism | Dandy-Walker malformation | Decreased fetal movement | Deeply set eye | Delayed eruption of primary teeth | Delayed eruption of teeth | Delayed speech and language development | Dental crowding | Drooling | Dysphagia | Ectopic anus | Facial asymmetry | Failure to thrive | Feeding difficulties | Gastroesophageal reflux | Generalized hypotonia | Global developmental delay | Growth delay | Hearing impairment | High palate | Hydrocephalus | Hypermetropia | Hypogonadism | Hypoplasia of the corpus callosum | Hypotonia | Infertility | Inguinal hernia | Intellectual disability | Intestinal malrotation | Intrauterine growth retardation | Kyphoscoliosis | Kyphosis | Long philtrum | Low hanging columella | Low-set ears | Low-set nipples | Macrotia | Microcephaly | Micrognathia | Micropenis | Multiple joint contractures | Myopia | Oligohydramnios | Patent ductus arteriosus | Preauricular pit | Preauricular skin tag | Premature birth | Ptosis | Pulmonic stenosis | Recurrent Candida infection | Recurrent infections | Recurrent oral thrush | Recurrent otitis media | Recurrent respiratory infections | Recurrent sinusitis | Recurrent urinary tract infections | Redundant neck skin | Renal hypoplasia | Sacral dimple | Scoliosis | Seizure | Severe hearing impairment | Single umbilical artery | Strabismus | Submucous cleft lip | Supernumerary ribs | Thickened nuchal skin fold | Tooth malposition | Torticollis | Truncus arteriosus | Unilateral renal agenesis | Upslanted palpebral fissure | Ventricular septal defect | Ventriculomegaly" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | Dandy-Walker 奇形 | 不妊 | 乱視 | 乳歯萠出遅延 | 二分した口蓋垂 | 仙骨部陥凹 | 低い垂れ下がった鼻小柱 | 低位乳頭 | 便秘 | 停留精巣 | 側弯 | 先天性横隔膜ヘルニア | 先天性股関節脱臼 | 全般性発達遅滞 | 全身性筋緊張低下 | 分厚い後部皮膚ヒダ | 副肋骨 | 動脈管開存症 | 単一臍帯動脈 | 反復性カンジダ感染症 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性感染症 | 口蓋裂 | 嚥下障害 | 外層 | 多発性関節拘縮 | 大動脈弁狭窄 | 大耳 | 大脳白質の異常 | 大脳萎縮 | 子宮内成長遅滞 | 小陰茎 | 小頭 | 小顎 | 幅広い下顎 | 後側弯 | 後弯 | 心室中隔欠損 | 心房中隔欠損 | 性腺機能低下症 | 慢性口腔カンジダ症 | 成長遅滞 | 成長障害 (成長不全) | 斜視 | 斜頚 | 早産 | 歯不正配列 | 歯混雑 | 歯萠出遅延 | 水頭症 | 流涎 | 片側性腎無発生 | 異所性肛門 | 発作 | 発語および言語発達遅延 | 眼瞼下垂 | 眼瞼裂斜上 | 知的障害 | 筋緊張低下 | 粘膜下口唇裂 | 総動脈幹 | 羊水過少 | 耳介低位 | 耳介前小孔 | 耳介前皮膚肉柱 | 肺動脈狭窄 | 胃食道逆流 | 胎動減少 | 脳室拡大 | 脳梁低形成 | 脳梁無発生 of | 腎低形成 | 腸回転異常 | 落ちくぼんだ眼 | 豊富な頸部皮膚 | 足関節の異常 | 近視 | 遠視 | 重度難聴 | 鎖肛 | 長い人中 | 難聴 | 顔面非対称 | 食餌摂取障害 | 骨盤位 | 高口蓋 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200182", "label_en": "Hyperlacticacidemia with no identified etiology", "label_ja": "原因不明な高乳酸血症", "yomigana": "げんいんふめいなこうにゅうさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200182", "notificationNumber": "21", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200895", "label_en": "Aicardi-Goutieres syndrome 3", "label_ja": "RNASEH2C欠損症", "yomigana": "あーるえぬえーえすいーえいち2しーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200895", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100244", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Autosomal recessive inheritance | CSF lymphocytic pleiocytosis | Cerebral calcification | Chilblains | Death in childhood | Delayed myelination | Dystonia | Elevated circulating hepatic transaminase concentration | Encephalopathy | Generalized hypotonia | Hepatosplenomegaly | Hyperreflexia | Hypoplasia of the corpus callosum | Hypotonia | Nystagmus | Progressive | Progressive microcephaly | Severe global developmental delay | Spasticity | Thrombocytopenia" ], "symptoms_ja_list": [ "ジストニア | 全身性筋緊張低下 | 凍瘡病変 | 反射亢進 | 大脳白質の異常 | 大脳石灰化 | 常染色体潜性遺伝 | 痙性 | 眼振 | 筋緊張低下 | 肝トランスアミナーゼ上昇 | 肝脾腫 | 脳梁低形成 | 脳症 | 血小板減少 | 進行性小頭 | 重度の全般性発達遅滞 | 髄液リンパ球増多症 | 髄鞘形成遅延" ] }, { "id": "NANDO:1200297", "label_en": "Secondary aplastic anemia", "label_ja": "二次性再生不良性貧血", "yomigana": "にじせいさいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200297", "notificationNumber": "60", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100138", "label_en": "Hypogonadotropic hypogonadism", "label_ja": "低ゴナドトロピン性性腺機能低下症", "yomigana": "ていごなどとろぴんせいせいせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100138", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100265", "label_en": "obsolete Primary sclerosing cholangitis", "label_ja": "obsolete 原発性硬化性胆管炎", "yomigana": "げんぱつせいこうかせいたんかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100265", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200380", "label_en": "Hyperandrogenism", "label_ja": "アンドロゲン過剰症", "yomigana": "あんどろげんかじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200380", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100137", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200486", "label_en": "Gyrate atrophy of choroid and retina", "label_ja": "脳回転状脈絡膜網膜萎縮症を伴う高オルニチン血症", "yomigana": "のうかいてんじょうみゃくらくまくもうまくいしゅくしょうをともなうこうおるにちんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200486", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal hair morphology | Abnormal macular morphology | Aminoaciduria | Autosomal recessive inheritance | Blindness | Cataract | Childhood onset | Chorioretinal atrophy | Constriction of peripheral visual field | EMG abnormality | Foveoschisis | Hearing impairment | Hyperornithinemia | Myopia | Nyctalopia | Posterior subcapsular cataract | Progressive night blindness | Progressive visual loss | Proximal muscle weakness | Seizure | Subcapsular cataract | Visual impairment" ], "symptoms_ja_list": [ "アミノ酸尿 | 中心窩分離症 | 嚢下白内障 | 夜盲症 | 常染色体潜性遺伝 | 後嚢下白内障 | 毛髪の異常 | 発作 | 白内障 | 盲 | 筋電図異常 | 脈絡膜網膜萎縮 | 視力障害 | 視野狭窄 | 近位筋虚弱 | 近視 | 進行性夜盲症 | 進行性視力喪失 | 難聴 | 高オルニチン血症 | 黄斑の異常" ] }, { "id": "NANDO:2200364", "label_en": "Hyporeninemic hypoaldosteronism", "label_ja": "低レニン性低アルドステロン症", "yomigana": "ていれにんせいていあるどすてろんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200364", "notificationNumber": "69", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100132", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200487", "label_en": "Dystrophinopathies", "label_ja": "ジストロフィン異常症", "yomigana": "じすとろふぃんいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200487", "notificationNumber": "113", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201139", "label_en": "Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency", "label_ja": "発症前型極長鎖アシルCoA脱水素酵素欠損症", "yomigana": "はっしょうまえがたごくちょうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201139", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Anteriorly placed anus | Arrhythmia | Atrial septal defect | Atrioventricular block | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Cardiomegaly | Death in infancy | Decreased circulating carnitine concentration | Dicarboxylic aciduria | Dilated cardiomyopathy | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Enlarged cisterna magna | Episodic tachypnea | Episodic vomiting | Exercise-induced myalgia | Exercise-induced myoglobinuria | Exercise-induced rhabdomyolysis | Feeding difficulties | Floppy infant | Gastroesophageal reflux | Hepatic steatosis | Hepatocellular necrosis | Hepatomegaly | Hyperammonemia | Hypertrophic cardiomyopathy | Hypocalcemia | Hypoketotic hypoglycemia | Hypoproteinemia | Hypothermia | Hypotonia | Infantile onset | Inflammatory abnormality of the skin | Jaundice | Lethargy | Macrocephaly | Metabolic acidosis | Microcephaly | Muscle spasm | Muscle stiffness | Muscle weakness | Neonatal onset | Nonketotic hypoglycemia | Obesity | Pain | Patent foramen ovale | Pericardial effusion | Periportal fibrosis | Pneumonia | Prolonged QT interval | Reduced left ventricular ejection fraction | Respiratory arrest | Respiratory distress | Small for gestational age | Sudden cardiac death | Tachycardia | Tachypnea | Ventricular fibrillation | Ventricular septal defect | Ventricular tachycardia | Vomiting" ], "symptoms_ja_list": [ "ジカルボン酸尿 | 不整脈 | 乳児筋性筋緊張低下 | 代謝性アシドーシス | 低カルシウム血症 | 低ケトン性低血糖 | 低タンパク血症 | 低体温 | 全身性間代性強直性発作 | 前方位肛門 | 卵円孔開存 | 呼吸停止 | 呼吸窮迫 | 嘔吐 | 嘔吐エピソード | 在胎月齢より小さい児 | 多呼吸 | 多呼吸エピソード | 大槽拡大 | 大頭 | 小頭 | 常染色体潜性遺伝 | 心外膜滲出液 | 心室中隔欠損 | 心室性 頻拍 | 心室細動 | 心房中隔欠損 | 心拡大 | 房室ブロック | 拡張型心筋症 | 無気力 | 疼痛 | 皮膚の炎症性異常 | 突然心臓死 | 筋けいれん | 筋硬直 | 筋緊張低下 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝細胞壊死 | 肝腫 | 肥大型心筋症 | 肥満 | 肺炎 | 胃食道逆流 | 脂肪肝 | 血清 creatine phosphokinase上昇 | 血漿カルニチン減少 | 運動誘発性ミオグロビン尿 | 運動誘発性横紋筋融解 | 運動誘発性筋痛 | 遷延性 QT 間隔 | 門脈周囲線維症 | 非ケトン性低血糖 | 頻拍 | 食餌摂取障害 | 駆出分画減少 | 高アンモニア血症 | 黄疸" ] }, { "id": "NANDO:1200312", "label_en": "Classical paroxysmal nocturnal hemoglobinuria", "label_ja": "古典的発作性夜間ヘモグロビン尿症", "yomigana": "こてんてきほっさせいやかんへもぐろびんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200312", "notificationNumber": "62", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200056", "label_en": "Gaucher disease", "label_ja": "ゴーシェ病", "yomigana": "ごーしぇびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200056", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal pain | Abnormal bleeding | Abnormal bone structure | Abnormal heart valve morphology | Abnormal macular morphology | Abnormal myocardium morphology | Abnormal pericardium morphology | Abnormal pulmonary interstitial morphology | Abnormal skin pigmentation | Abnormality of coagulation | Abnormality of extrapyramidal motor function | Abnormality of movement | Abnormality of the skeletal system | Anemia | Aortic valve calcification | Arthralgia | Arthrogryposis multiplex congenita | Ataxia | Avascular necrosis | Bilateral tonic-clonic seizure | Bone pain | Cherry red spot of the macula | Cholelithiasis | Cirrhosis | Corneal opacity | Cranial nerve paralysis | Death in infancy | Decreased beta-glucocerebrosidase level | Decreased circulating HDL-C concentration | Decreased total leukocyte count | Delayed puberty | Delayed skeletal maturation | Dementia | Depression | Developmental regression | Dysphagia | Elevated circulating C-reactive protein concentration | Erlenmeyer flask deformity of the femurs | Fatigue | Feeding difficulties in infancy | Fever | Generalized myoclonic seizure | Gingival bleeding | Growth delay | Hearing impairment | Hematuria | Hemiplegia/hemiparesis | Hepatic failure | Hepatic fibrosis | Hepatitis | Hepatomegaly | Hydrocephalus | Hydrops fetalis | Hypotonia | Ichthyosis | Increased bone mineral density | Increased circulating ferritin concentration | Increased circulating immunoglobulin concentration | Intellectual disability | Joint dislocation | Joint stiffness | Kyphosis | Mitral valve calcification | Multiple myeloma | Oculomotor apraxia | Opisthotonus | Osteoarthritis | Osteolysis | Osteomyelitis | Osteopenia | Osteoporosis | Pancytopenia | Parkinsonism | Pathologic fracture | Polyclonal elevation of circulating IgM concentration | Proteinuria | Pulmonary arterial hypertension | Pulmonary fibrosis | Recurrent fractures | Respiratory insufficiency | Retinopathy | Sensorimotor neuropathy | Short stature | Splenic rupture | Splenomegaly | Strabismus | Thrombocytopenia | Tremor | Ventriculomegaly" ], "symptoms_ja_list": [ "CRP 上昇 | Dementia | β-グルコセレブロシダーゼタンパクと活性の減少 | うつ | パーキンソン症候群 | ポリクローナル IgM 上昇 | 低身長 | 僧帽弁石灰化 | 先天性多発性関節拘縮 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 凝固の異常 | 反復性骨折 | 呼吸不全 | 嚥下障害 | 多発性骨髄腫 | 大動脈弁石灰化 | 大腿骨のErlenmeyer フラスコ変形 | 後弓反張 | 後弯 | 心外膜の異常 | 心弁の異常 | 心筋の異常 | 思春期遅発 | 感覚運動ニューロパチー | 成長遅滞 | 振戦 | 斜視 | 歯肉出血 | 水頭症 | 汎血球減少症 | 無菌性壊死 | 片麻痺/片側不全麻痺 | 異常な出血 | 疲労 | 病的骨折 | 発熱 | 発達退行 | 白血球減少症 | 皮膚色素の異常 | 眼球運動失行症 | 知的障害 | 筋緊張低下 | 網膜症 | 肝不全 | 肝炎 | 肝硬変 | 肝線維症 | 肝腫 | 肺線維症 | 肺高血圧 | 胆石症 | 胎児水腫 | 脳室拡大 | 脳神経麻痺 | 脾破裂 | 脾腫 | 腹痛 | 蛋白尿 | 血小板減少 | 血尿 | 血清フェリチン増加 | 角膜混濁 | 貧血 | 運動の異常 | 運動失調 | 錐体外路運動機能の異常 | 間質性肺疾患 | 関節拘縮 | 関節痛 | 関節脱臼 | 難聴 | 食餌摂取障害 in infancy | 骨ミネラル濃度の増加 | 骨格の異常 | 骨格骨化遅延 | 骨構造異常 | 骨減少症 | 骨痛 | 骨粗鬆症 | 骨融解 | 骨関節炎 | 骨髄炎 | 高αリポ蛋白血症 | 高ガンマグロブリン血症 | 魚鱗癬 | 黄斑のチェリーレッド斑 | 黄斑の異常" ] }, { "id": "NANDO:1200138", "label_en": "Pompe disease", "label_ja": "ポンペ病", "yomigana": "ぽんぺびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200138", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal internal carotid artery morphology | Areflexia | Atelectasis | Bowel incontinence | Camptocormia | Cardiomegaly | Chronic pain | Cognitive impairment | Cranial nerve paralysis | Delayed speech and language development | Diaphragmatic weakness | Difficulty climbing stairs | Dilatation of the cerebral artery | Dysarthria | Dysphagia | EMG: myopathic abnormalities | Elevated circulating creatine kinase activity | Exercise intolerance | Exertional dyspnea | Facial hypotonia | Failure to thrive | Fatigue | Feeding difficulties in infancy | Flexion contracture | Floppy infant | Gait disturbance | Generalized muscle weakness | Gowers sign | Growth delay | Hearing impairment | Hepatomegaly | Hyperlordosis | Hypertrophic cardiomyopathy | Hypomimic face | Hyporeflexia | Impaired mastication | Inability to walk | Left ventricular hypertrophy | Lower limb muscle weakness | Macroglossia | Motor axonal neuropathy | Motor delay | Muscle weakness | Myalgia | Oligosacchariduria | Orthopnea | Osteoporosis | Progressive proximal muscle weakness | Ptosis | Recurrent respiratory infections | Respiratory distress | Respiratory failure | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Respiratory tract infection | Scoliosis | Shortened PR interval | Sleep apnea | Thoracic aortic aneurysm | Tongue fasciculations | Tongue muscle weakness | Transient ischemic attack | Vasculitis" ], "symptoms_ja_list": [ "Gowers サイン | オリゴ糖尿 | 一過性虚血発作 | 下肢筋虚弱 | 乳児筋性筋緊張低下 | 仮面顔 | 側弯 | 全身性筋虚弱 | 前屈症 | 前弯 | 反射低下 | 反復性呼吸器感染症 | 呼吸不全 | 呼吸器感染 | 呼吸窮迫 | 咀嚼こんな | 嚥下障害 | 大脳動脈瘤 | 屈曲拘縮 | 左室肥大 | 巨舌 | 心拡大 | 慢性疼痛 | 成長遅滞 | 成長障害 (成長不全) | 構音障害 | 横隔膜虚弱 | 歩行不能 | 歩行障害 | 無反射 | 無気肺 | 疲労 | 発語および言語発達遅延 | 眼瞼下垂 | 睡眠時無呼吸 | 短い PR 間隔 | 筋痛 | 筋虚弱 | 筋虚弱による呼吸不全 | 筋電図: ミオパチー異常 | 肝腫 | 肥大型心筋症 | 胸部大動脈瘤 | 脳神経麻痺 | 舌線維束性収縮 | 舌運動障害 | 血清 creatine phosphokinase上昇 | 血管炎 | 認知障害 | 起坐呼吸 | 進行性近位筋虚弱 | 運動不耐症 | 運動性呼吸困難 | 運動性軸索ニューロパチー | 運動発達遅滞 | 遺糞症 | 階段の登り困難 | 難聴 | 顔面筋緊張低下 | 食餌摂取障害 in infancy | 骨粗鬆症" ] }, { "id": "NANDO:1200743", "label_en": "Interstitial cystitis (Hunner type)", "label_ja": "間質性膀胱炎（ハンナ型）", "yomigana": "かんしつせいぼうこうえん(はんながた)", "url": "http://nanbyodata.jp/ontology/NANDO_1200743", "notificationNumber": "226", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Abnormal labia morphology | Abnormal vagina morphology | Abnormality of the bladder | Abnormality of the genital system | Abnormality of the menstrual cycle | Abnormality of the urethra | Abnormality of tumor necrosis factor secretion | Autoimmunity | Depression | Dysuria | Elevated circulating C-reactive protein concentration | Functional abnormality of the bladder | Nocturia | Pollakisuria | Urinary bladder inflammation | Urinary urgency" ], "symptoms_ja_list": [ "CRP 上昇 | うつ | 夜尿 | 尿意切迫 | 尿道異常 | 性器異常 | 排尿障害 | 月経周期異常 | 腫瘍壊死因子分泌の異常 | 膀胱機能異常 | 膀胱炎症 | 膀胱異常 | 膣異常 | 自己免疫 | 陰唇異常 | 頻用" ] }, { "id": "NANDO:1201058", "label_en": "RAPADILINO syndrome", "label_ja": "ラパデリノ症候群", "yomigana": "らぱでりのしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201058", "notificationNumber": "186", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Absent thumb | Aplasia/Hypoplasia of the patella | Aplasia/Hypoplasia of the radius | Aplasia/Hypoplasia of the thumb | Autosomal recessive inheritance | Blepharophimosis | Cleft palate | Decreased circulating immunoglobulin concentration | Decreased total T cell count | Diarrhea | Feeding difficulties | Hearing impairment | High palate | High", "narrow palate | Intellectual disability | Intrauterine growth retardation | Joint dislocation | Long face | Mild intellectual disability | Mottled pigmentation | Poikiloderma | Postnatal growth retardation | Short chin | Short stature | Slender nose | Sparse eyelashes | Sparse scalp hair | Stiff interphalangeal joints" ], "symptoms_ja_list": [ "T リンパ球減少症 | 下痢 | 低ガンマグロブリン血症 | 低身長 | 口蓋裂 | 多形皮膚萎縮症 (ポイキロデルマ) | 子宮内成長遅滞 | 常染色体潜性遺伝 | 斑状色素沈着 | 橈骨無形成/低形成 | 母指欠損 | 母指無形成/低形成 | 生後の成長遅滞 | 疎な睫毛 | 疎な頭髪 | 眼瞼裂狭小 | 知的障害 | 知的障害", "軽度 | 短い下顎 | 硬い指間(IP)関節 | 細い鼻 | 膝蓋骨無形成/低形成 | 長い顔 | 関節脱臼 | 難聴 | 食餌摂取障害 | 高口蓋 | 高狭口蓋" ] }, { "id": "NANDO:2200737", "label_en": "STAT5b deficiency", "label_ja": "STAT5b欠損症", "yomigana": "えすてぃーえーてぃー5びーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200737", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Abnormally high-pitched voice | Autosomal recessive inheritance | Concave nasal ridge | Decreased response to growth hormone stimulation test | Failure to thrive | Lymphocytic interstitial pneumonia | Prominent forehead | Respiratory distress | Severe short stature" ], "symptoms_ja_list": [ "リンパ性間質性肺炎 | 呼吸窮迫 | 常染色体潜性遺伝 | 成長ホルモン欠乏症 | 成長障害 (成長不全) | 目立つ額 | 窪んだ鼻梁 | 重度の低身長 | 高音の声" ] }, { "id": "NANDO:2200613", "label_en": "Acquired pure red cell aplasia", "label_ja": "後天性赤芽球癆", "yomigana": "こうてんせいせきがきゅうろう", "url": "http://nanbyodata.jp/ontology/NANDO_2200613", "notificationNumber": "26", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100177", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201177", "label_en": "Tuberous sclerosis complex-associated lymphangioleiomyomatosis", "label_ja": "結節性硬化症に合併した LAM", "yomigana": "けっせつせいこうかしょう に がっぺいした らむ", "url": "http://nanbyodata.jp/ontology/NANDO_1201177", "notificationNumber": "89", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201307", "label_en": "Apert syndrome (sagittal synostosis)", "label_ja": "アペール症候群（矢状縫合）", "yomigana": "あぺーるしょうこうぐん（しじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201307", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200558", "label_en": "Congenital suprabulbar paresis", "label_ja": "先天性核上性球麻痺", "yomigana": "せんてんせいかくじょうせいきゅうまひ", "url": "http://nanbyodata.jp/ontology/NANDO_1200558", "notificationNumber": "132", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cranial nerve morphology | Abnormal speech pattern | Attention deficit hyperactivity disorder | Autosomal dominant inheritance | Cognitive impairment | Drooling | Dysarthria | Dysphagia | Dysphonia | EEG abnormality | Gastroesophageal reflux | Hyperreflexia | Intellectual disability | Microcephaly | Muscle weakness | Recurrent respiratory infections | Seizure | Sensorineural hearing impairment | Specific learning disability | Tetraplegia | Tongue muscle weakness" ], "symptoms_ja_list": [ "反射亢進 | 反復性呼吸器感染症 | 嚥下障害 | 四肢麻痺 | 小頭 | 常染色体顕性遺伝 | 感音難聴 | 構音障害 | 注意力欠陥多動性疾患 | 流涎 | 特異的学習障害 | 発作 | 発音障害 | 知的障害 | 神経学的発語障害 | 筋虚弱 | 胃食道逆流 | 脳波異常 | 脳神経の異常 | 舌運動障害 | 認知障害" ] }, { "id": "NANDO:1200281", "label_en": "Secondary Sjogren's syndrome", "label_ja": "二次性シェーグレン症候群", "yomigana": "にじせいしぇーぐれんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200281", "notificationNumber": "53", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200755", "label_en": "Leukocyte adhesion deficiency", "label_ja": "白血球接着不全症", "yomigana": "はっけっきゅうせっちゃくふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200755", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Abnormal bleeding | Abnormal neutrophil physiology | Abnormality of the dentition | Acute myeloid leukemia | Autism | Bone marrow hypocellularity | Bronchiectasis | Cerebral atrophy | Coarse facial features | Conjunctivitis | Coronal craniosynostosis | Gingivitis | Glomerulonephritis | Growth delay | Hemolytic-uremic syndrome | Hyperinsulinemic hypoglycemia | Impaired platelet aggregation | Increased total leukocyte count | Intellectual disability | Intrauterine growth retardation | Lymphocytic interstitial pneumonia | Meningitis | Microcephaly | Nail dystrophy | Osteomyelitis | Otitis media | Perianal abscess | Peritonitis | Pneumonia | Polycythemia | Recurrent aphthous stomatitis | Recurrent bacterial infections | Recurrent fungal infections | Recurrent oral thrush | Recurrent skin infections | Recurrent staphylococcal infections | Recurrent tonsillitis | Recurrent urinary tract infections | Respiratory tract infection | Seizure | Sepsis | Severe periodontitis | Short stature | Sinusitis | Thrombocytosis" ], "symptoms_ja_list": [ "リンパ性間質性肺炎 | 中耳炎 | 低身長 | 冠状縫合早期癒合 | 副鼻腔炎 | 反復性アフタ性口内炎 | 反復性カビ感染症 | 反復性ブドウ球菌感染症 | 反復性尿路感染症 | 反復性皮膚感染症 | 反復性細菌感染症 | 呼吸器感染 | 多血症 | 大脳萎縮 | 好中球生理の異常 | 子宮内成長遅滞 | 小頭 | 急性骨髄性白血病 | 慢性口腔カンジダ症 | 成長遅滞 | 扁桃炎 | 敗血症 | 歯の異常 | 歯肉炎 | 気管支拡張 | 溶血性尿毒症候群症候群 | 爪ジストロフィー | 異常な出血 | 発作 | 白血球増多症 | 知的障害 | 粗な顔貌 | 糸球体腎炎 | 結膜炎 | 肛門周囲膿瘍 | 肺炎 | 腹膜炎 | 自閉症 | 血小板凝集障害 | 血小板増多症 | 重度の歯周炎 | 骨髄炎 | 骨髄細胞数増多 | 髄膜炎 | 高インスリン血症性低血糖" ] }, { "id": "NANDO:1200976", "label_en": "Trifunctional protein deficiency, intermediate type", "label_ja": "乳幼児期発症型三頭酵素欠損症", "yomigana": "にゅうようじきはっしょうがたさんとうこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200976", "notificationNumber": "317", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200512", "label_en": "Very-long-chain acyl-CoA dehydrogenase deficiency", "label_ja": "極長鎖アシルCoA脱水素酵素欠損症", "yomigana": "ごくちょうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200512", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Anteriorly placed anus | Arrhythmia | Atrial septal defect | Atrioventricular block | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Cardiomegaly | Death in infancy | Decreased circulating carnitine concentration | Dicarboxylic aciduria | Dilated cardiomyopathy | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Enlarged cisterna magna | Episodic tachypnea | Episodic vomiting | Exercise-induced myalgia | Exercise-induced myoglobinuria | Exercise-induced rhabdomyolysis | Feeding difficulties | Floppy infant | Gastroesophageal reflux | Hepatic steatosis | Hepatocellular necrosis | Hepatomegaly | Hyperammonemia | Hypertrophic cardiomyopathy | Hypocalcemia | Hypoketotic hypoglycemia | Hypoproteinemia | Hypothermia | Hypotonia | Infantile onset | Inflammatory abnormality of the skin | Jaundice | Lethargy | Macrocephaly | Metabolic acidosis | Microcephaly | Muscle spasm | Muscle stiffness | Muscle weakness | Neonatal onset | Nonketotic hypoglycemia | Obesity | Pain | Patent foramen ovale | Pericardial effusion | Periportal fibrosis | Pneumonia | Prolonged QT interval | Reduced left ventricular ejection fraction | Respiratory arrest | Respiratory distress | Small for gestational age | Sudden cardiac death | Tachycardia | Tachypnea | Ventricular fibrillation | Ventricular septal defect | Ventricular tachycardia | Vomiting" ], "symptoms_ja_list": [ "ジカルボン酸尿 | 不整脈 | 乳児筋性筋緊張低下 | 代謝性アシドーシス | 低カルシウム血症 | 低ケトン性低血糖 | 低タンパク血症 | 低体温 | 全身性間代性強直性発作 | 前方位肛門 | 卵円孔開存 | 呼吸停止 | 呼吸窮迫 | 嘔吐 | 嘔吐エピソード | 在胎月齢より小さい児 | 多呼吸 | 多呼吸エピソード | 大槽拡大 | 大頭 | 小頭 | 常染色体潜性遺伝 | 心外膜滲出液 | 心室中隔欠損 | 心室性 頻拍 | 心室細動 | 心房中隔欠損 | 心拡大 | 房室ブロック | 拡張型心筋症 | 無気力 | 疼痛 | 皮膚の炎症性異常 | 突然心臓死 | 筋けいれん | 筋硬直 | 筋緊張低下 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝細胞壊死 | 肝腫 | 肥大型心筋症 | 肥満 | 肺炎 | 胃食道逆流 | 脂肪肝 | 血清 creatine phosphokinase上昇 | 血漿カルニチン減少 | 運動誘発性ミオグロビン尿 | 運動誘発性横紋筋融解 | 運動誘発性筋痛 | 遷延性 QT 間隔 | 門脈周囲線維症 | 非ケトン性低血糖 | 頻拍 | 食餌摂取障害 | 駆出分画減少 | 高アンモニア血症 | 黄疸" ] }, { "id": "NANDO:1200335", "label_en": "PMS2 deficiency", "label_ja": "PMS2異常症", "yomigana": "ぴーえむえす2いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200335", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201140", "label_en": "Neonatal-onset very-long-chain acyl-CoA dehydrogenase deficiency", "label_ja": "新生児期発症型極長鎖アシルCoA脱水素酵素欠損症", "yomigana": "しんせいじきはっしょうがたごくちょうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201140", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200779", "label_en": "C1s deficiency", "label_ja": "C1s 欠損症", "yomigana": "しー1えすけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200779", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Abnormality of complement system | Hashimoto thyroiditis | Hepatitis | Systemic lupus erythematosus" ], "symptoms_ja_list": [ "全身性紅斑性狼瘡 | 橋本甲状腺炎 | 肝炎 | 補体系の異常" ] }, { "id": "NANDO:2200537", "label_en": "Glycogen synthase deficiency", "label_ja": "グリコーゲン合成酵素欠損症", "yomigana": "ぐりこーげんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200537", "notificationNumber": "61", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormality of the gastrointestinal tract | Autosomal recessive inheritance | Elevated circulating hepatic transaminase concentration | Failure to thrive | Fasting hypoglycemia | Global developmental delay | Glycosuria | Hyperlipidemia | Increased circulating lactate concentration | Irritability | Ketonuria | Ketosis | Ketotic hypoglycemia | Lethargy | Neonatal hypoglycemia | Postprandial hyperglycemia | Seizure | Short stature" ], "symptoms_ja_list": [ "ケトン尿 | ケトン性低血糖 | ケトン症 | 低身長 | 全般性発達遅滞 | 尿糖 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 新生児低血糖 | 無気力 | 発作 | 空腹時低血糖 | 肝トランスアミナーゼ上昇 | 胃腸管の異常 | 血清乳酸増加 | 被刺激性 | 食後高血糖 | 高脂血症" ] }, { "id": "NANDO:2200557", "label_en": "Galactosialidosis", "label_ja": "ガラクトシアリドーシス", "yomigana": "がらくとしありどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200557", "notificationNumber": "113", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal vertebral morphology | Abnormality of the vertebral column | Autosomal recessive inheritance | Cherry red spot of the macula | Coarse facial features | Conjunctival telangiectasia | Corneal opacity | Decreased beta-galactosidase activity | Dysostosis multiplex | Hearing impairment | Hemangioma | Hepatosplenomegaly | Intellectual disability | Nonimmune hydrops fetalis | Opacification of the corneal stroma | Seizure | Severe short stature | Skeletal dysplasia | Visceromegaly" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | 内臓肥大 | 多発性異骨症 | 常染色体潜性遺伝 | 発作 | 知的障害 | 粗な顔貌 | 結膜毛細血管拡張 | 肝脾腫 | 脊柱の異常 | 脊椎の異常 | 血管腫 | 角膜混濁 | 角膜間質混濁形成 | 重度の低身長 | 難聴 | 非免疫性胎児水腫 | 骨格異形成 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2200519", "label_en": "Pyruvate carboxylase deficiency", "label_ja": "ピルビン酸カルボキシラーゼ欠損症", "yomigana": "ぴるびんさんかるぼきしらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200519", "notificationNumber": "86", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [ "Abnormal pattern of respiration | Abnormal pyramidal sign | Agenesis of corpus callosum | Anorexia | Apathy | Ataxia | Athetosis | Autosomal recessive inheritance | Basal ganglia gliosis | CNS hypomyelination | Cerebellar gliosis | Cerebral white matter atrophy | Clonus | Coma | Compulsive behaviors | Congenital onset | Dehydration | Delayed myelination | Dyskinesia | Dystonia | Elevated brain choline level by MRS | Elevated brain lactate level by MRS | Elevated plasma citrulline | Excessive daytime somnolence | Failure to thrive | Generalized clonic seizure | Generalized hypotonia | Global developmental delay | Growth delay | Hepatomegaly | Hyperalaninemia | Hyperammonemia | Hyperglycemia | Hyperlysinemia | Hypernatremia | Hyperprolinemia | Hypoglycemia | Hypotonia | Increased CSF lactate | Increased caudate lactate level | Increased circulating lactate concentration | Increased circulating pyruvate concentration | Infantile onset | Infantile spasms | Intellectual disability | Lactic acidosis | Lacticaciduria | Leukodystrophy | Metabolic acidosis | Neonatal hyperbilirubinemia | Neurodevelopmental delay | Neuronal loss in the cerebral cortex | Nystagmus | Periventricular cysts | Periventricular leukomalacia | Poor speech | Proximal renal tubular acidosis | Recurrent hand flapping | Reduced brain N-acetyl aspartate level by MRS | Reduced eye contact | Seizure | Subependymal cysts | Tachypnea | Tremor | Ventriculomegaly | Vomiting" ], "symptoms_ja_list": [ "MRSによる脳 N-acetyl aspartate 値現象 | MRSによる脳コリン値上昇 | MRSによる脳尿酸値上昇 | アテトーゼ | クローヌス | ジスキネジア | ジストニア | ニューロンal loss in the 大脳皮質 | ロイコジストロフィー | 上衣下嚢胞 | 中枢神経髄鞘形成低下 | 乳児スパスム | 乳酸尿 | 乳酸性アシドーシス | 代謝性アシドーシス | 低血糖 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性間代性発作 | 反復性の手 | 呼吸パターンの異常 | 嗜眠 | 嘔吐 | 基底核神経膠症 (グリオーシス) | 多呼吸 | 大脳白質萎縮 | 小脳神経膠症 | 尾状核乳酸値の増加 | 常染色体潜性遺伝 | 強迫性行動 | 成長遅滞 | 成長障害 (成長不全) | 振戦 | 新生児高ビリルビン血症 | 昏睡 | 無関心", "感情鈍磨 | 発作 | 発語不全 | 眼があわない | 眼振 | 知的障害 | 神経発生遅延 | 筋緊張低下 | 肝腫 | 脱水 | 脳室周囲嚢胞 | 脳室周囲白質軟化症 | 脳室拡大 | 脳梁無発生 of | 血清ピルビン酸増加 | 血清乳酸増加 | 血漿シトルリン上昇 | 近位腎尿細管アシドーシス | 運動失調 | 錐体路運動機能の異常 | 食思不振 | 髄液乳酸増加 | 髄鞘形成遅延 | 高アラニン血症 | 高アンモニア血症 | 高ナトリウム血症 | 高プロリン血症 | 高リジン血症 | 高血糖" ] }, { "id": "NANDO:2100167", "label_en": "Disorder of metal metabolism", "label_ja": "金属代謝異常症", "yomigana": "きんぞくたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100167", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201087", "label_en": "Presymptomatic carbamoylphosphate synthetase deficiency", "label_ja": "発症前型カルバミルリン酸合成酵素欠損症", "yomigana": "はっしょうまえがたかるばみるりんさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201087", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201105", "label_en": "Secondary central diabetes insipidu", "label_ja": "続発性中枢性尿崩症", "yomigana": "ぞくはつせいちゅうすうせいにょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201105", "notificationNumber": "72", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200661", "label_en": "Joubert syndrome and related disorders", "label_ja": "ジュベール症候群関連疾患", "yomigana": "じゅべーるしょうこうぐんかんれんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200661", "notificationNumber": "177", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200540", "label_en": "Glycogen storage disease type IV", "label_ja": "糖原病IV型", "yomigana": "とうげんびょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200540", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormal muscle glycogen content | Arthrogryposis multiplex congenita | Ascites | Autosomal recessive inheritance | Bradycardia | Cardiomyopathy | Cirrhosis | Congestive heart failure | Decreased fetal movement | Decreased liver function | Dilated cardiomyopathy | Diminished deep tendon reflex | Edema | Elevated circulating hepatic transaminase concentration | Esophageal varix | Failure to thrive | Fetal akinesia sequence | Flexion contracture | Generalized abnormality of skin | Generalized hypotonia | Hepatic failure | Hepatomegaly | Hepatosplenomegaly | Hydrops fetalis | Hypoalbuminemia | Hyporeflexia | Hypotonia | Motor delay | Muscle weakness | Myopathy | Nonimmune hydrops fetalis | Polyhydramnios | Portal hypertension | Prolonged partial thromboplastin time | Prolonged prothrombin time | Respiratory distress | Respiratory insufficiency | Severe muscular hypotonia | Skeletal muscle atrophy | Talipes equinovarus | Tubulointerstitial fibrosis" ], "symptoms_ja_list": [ "うっ血性心不全 | プロトロンビン時間遷延 | ミオパチー | 先天性多発性関節拘縮 | 全身性皮膚異常 | 全身性筋緊張低下 | 内反尖足 | 反射低下 | 呼吸不全 | 呼吸窮迫 | 尿細管間質 線維症 | 屈曲拘縮 | 常染色体潜性遺伝 | 徐脈 | 心筋症 | 成長障害 (成長不全) | 拡張型心筋症 | 浮腫 | 異常な筋グリコーゲン量 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 羊水過多 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝機能低下 | 肝硬変 | 肝脾腫 | 肝腫 | 胎児水腫 | 胎児無動シークェンス | 胎動減少 | 腱反射減少 | 腹水 | 運動発達遅滞 | 部分的トロンボプラスチン時間遷延 | 重度筋緊張低下 | 門脈圧亢進 | 非免疫性胎児水腫 | 食道静脈瘤 | 高アルブミン血症" ] }, { "id": "NANDO:2200518", "label_en": "Pyruvate dehydrogenase complex deficiency", "label_ja": "ピルビン酸脱水素酵素複合体欠損症", "yomigana": "ぴるびんさんだっすいそこうそふくごうたいけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200518", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [ "Abnormal facial shape | Abnormal pyramidal sign | Abnormality of eye movement | Aplasia/Hypoplasia of the corpus callosum | Ataxia | Cerebral palsy | Choreoathetosis | Dysarthria | Dyspnea | Dystonia | Epicanthus | Feeding difficulties in infancy | Frontal bossing | Gait disturbance | Global developmental delay | Growth delay | High palate | Hypertelorism | Hypotonia | Intrauterine growth retardation | Lethargy | Long philtrum | Microcephaly | Multiple lipomas | Narrow face | Osteolytic defects of the middle phalanx of the 4th toe | Pectus excavatum | Seizure | Spasticity | Tachypnea | Tremor | Trigonocephaly | Upslanted palpebral fissure | Ventriculomegaly | Wide nasal bridge" ], "symptoms_ja_list": [ "ジストニア | 三角頭蓋 | 両眼隔離 | 全般性発達遅滞 | 内眼角贅皮 | 前頭突出", "額突出 | 呼吸困難 | 多呼吸 | 多発性脂肪腫 | 子宮内成長遅滞 | 小頭 | 幅広い鼻梁 | 成長遅滞 | 振戦 | 構音障害 | 歩行障害 | 漏斗胸 | 無気力 | 狭い顔 | 異常な顔の形 | 痙性 | 発作 | 眼瞼裂斜上 | 眼運動の異常 | 第4趾中節骨の骨融解病変 | 筋緊張低下 | 脳室拡大 | 脳性麻痺 | 脳梁無形成/低形成 | 舞踏病アテトーゼ | 運動失調 | 錐体路運動機能の異常 | 長い人中 | 食餌摂取障害 in infancy | 高口蓋" ] }, { "id": "NANDO:2200212", "label_en": "Sick sinus syndrome", "label_ja": "洞不全症候群", "yomigana": "どうふぜんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200212", "notificationNumber": "72", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100043", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201449", "label_en": "Type 2 total anomalous pulmonary venous connection", "label_ja": "総肺静脈還流異常症II型", "yomigana": "そうはいじょうみゃくかんりゅういじょうしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201449", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100088", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200958", "label_en": "Partial trisomy 1q", "label_ja": "1q部分重複症候群", "yomigana": "1きゅーぶぶんじゅうふくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200958", "notificationNumber": "310", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200857", "label_en": "Abetalipoproteinemia", "label_ja": "無βリポタンパク血症", "yomigana": "むべーたりぽたんぱくけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200857", "notificationNumber": "264", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abetalipoproteinemia | Abnormal bleeding | Abnormal retinal pigmentation | Abnormality of the nervous system | Acanthocytosis | Anemia | Areflexia | Ataxia | Autosomal recessive inheritance | Babinski sign | Blindness | Broad-based gait | CNS demyelination | Cardiomegaly | Chronic diarrhea | Cirrhosis | Color vision defect | Congestive heart failure | Corneal ulceration | Decreased circulating HDL-C concentration | Decreased circulating LDL-C concentration | Decreased circulating vitamin D concentration | Decreased circulating vitamin E concentration | Distal lower limb muscle weakness | Dysarthria | Dysmetria | Elevated circulating hepatic transaminase concentration | Failure to thrive | Fat malabsorption | Fundus hypopigmentation | Gait ataxia | Hepatic fibrosis | Hepatic steatosis | Hepatomegaly | Hyperbilirubinemia | Hypoalbuminemia | Hypocholesterolemia | Hypothyroidism | Hypotriglyceridemia | Impaired distal proprioception | Impaired proprioception | Impaired vibratory sensation | Keratoconjunctivitis sicca | Kyphoscoliosis | Myalgia | Myopathy | Nyctalopia | Ophthalmoplegia | Osteopenia | Peripheral demyelination | Pes cavus | Positive Romberg sign | Progressive visual loss | Prolonged prothrombin time | Ptosis | Reduced circulating vitamin A concentration | Respiratory failure | Reticulocytosis | Retinal degeneration | Retinopathy | Rod-cone dystrophy | Scotoma | Steatorrhea | Steppage gait | Talipes equinovarus | Upper motor neuron dysfunction | Vomiting" ], "symptoms_ja_list": [ "Babinski サイン | Romberg サイン陽性 | うっ血性心不全 | ビタミンA欠乏症 | ビタミンD欠乏症 | ビタミンE欠乏症 | プロトロンビン時間遷延 | ミオパチー | 中枢神経脱髄 | 乾燥性 | 低βリポ蛋白血症 | 低コレステロール血症 | 低トリグリセリド血症 | 内反尖足 | 凹足 | 呼吸不全 | 嘔吐 | 固有覚障害 | 夜盲症 | 常染色体潜性遺伝 | 幅広歩行 | 後側弯 | 心拡大 | 慢性下痢 | 成長障害 (成長不全) | 振動覚障害 | 暗点 | 有棘赤血球増加 | 末梢神経脱髄 | 構音障害 | 歩行失調 | 測定障害 | 無βリポ蛋白血症 | 無反射 | 甲状腺機能低下症 | 異常な出血 | 皮質脊髄路機能障害 | 盲 | 眼底低色素 | 眼瞼下垂 | 眼筋麻痺 | 神経系の異常 | 筋痛 | 網状赤血球増多症 | 網膜変性 | 網膜症 | 網膜色素異常 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝線維症 | 肝腫 | 脂肪便 | 脂肪吸収不全 | 脂肪肝 | 色素性網膜炎 | 色覚異常 | 角膜潰瘍 | 貧血 | 進行性視力喪失 | 運動失調 | 遠位下肢筋虚弱 | 遠位固有覚障害 | 骨減少症 | 高αリポ蛋白血症 | 高アルブミン血症 | 高ビリルビン血症 | 鶏歩" ] }, { "id": "NANDO:2200003", "label_en": "T-cell lymphoblastic leukemia", "label_ja": "T細胞急性リンパ性白血病", "yomigana": "てぃーさいぼうきゅうせいりんぱせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200003", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200153", "label_en": "Late infantile neuronal ceroid lipofuscinosis", "label_ja": "遅発乳児型神経セロイドリポフスチン症", "yomigana": "ちはつにゅうじがたしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200153", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal nervous system electrophysiology | Ataxia | Autosomal recessive inheritance | Cerebral atrophy | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | Delayed speech and language development | Developmental regression | Increased extraneuronal autofluorescent lipopigment | Increased neuronal autofluorescent lipopigment | Myoclonus | Progressive visual loss | Retinal degeneration | Seizure | Undetectable electroretinogram" ], "symptoms_ja_list": [ "ミオクローヌス | 大脳萎縮 | 常染色体潜性遺伝 | 異常な神経系電気生理 | 発作 | 発語および言語発達遅延 | 発達退行 | 神経び自己蛍光脂肪色素の増加 | 神経外自己蛍光脂肪色素の増加 | 網膜変性 | 網膜電図 (ERG) 廃絶 | 自己蛍光性脂肪色素蓄積物質の曲線状細胞内蓄積 | 進行性視力喪失 | 運動失調" ] }, { "id": "NANDO:1200006", "label_en": "Spinal muscular atrophy type III", "label_ja": "脊髄性筋萎縮症III型", "yomigana": "せきずいせいきんいしゅくしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200006", "notificationNumber": "3", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Absent Achilles reflex | Absent patellar reflexes | Autosomal recessive inheritance | Degeneration of anterior horn cells | Distal amyotrophy | EMG: chronic denervation signs | Hand tremor | Hyporeflexia | Juvenile onset | Limb fasciculations | Loss of ambulation | Lower limb muscle weakness | Muscle spasm | Pelvic girdle amyotrophy | Pelvic girdle muscle weakness | Progressive | Proximal lower limb amyotrophy | Proximal muscle weakness | Shoulder girdle muscle atrophy | Shoulder girdle muscle weakness | Spinal muscular atrophy | Tongue fasciculations" ], "symptoms_ja_list": [ "アキレス腱反射欠損 | 下肢筋虚弱 | 前角細胞変性 | 反射低下 | 四肢線維束性収縮 | 常染色体潜性遺伝 | 手振戦 | 筋けいれん | 筋電図: 慢性変性サイン | 肩帯筋筋萎縮 | 肩帯筋虚弱 | 脊髄性筋萎縮 | 膝蓋腱反射 | 舌線維束性収縮 | 近位下肢筋萎縮 | 近位筋虚弱 | 進行性歩行不安定 | 遠位筋萎縮 | 骨盤帯筋筋萎縮 | 骨盤帯筋筋虚弱" ] }, { "id": "NANDO:2100010", "label_en": "Chronic glomerulonephritis", "label_ja": "慢性糸球体腎炎", "yomigana": "まんせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100010", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201133", "label_en": "juvenile polymyositis", "label_ja": "若年性多発性筋炎", "yomigana": "じゃくねんせいたはつせいきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201133", "notificationNumber": "50", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201041", "label_en": "Hypertrophic nonobstructive cardiomyopathy", "label_ja": "非閉塞性肥大型心筋症", "yomigana": "ひへいそくせいひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201041", "notificationNumber": "88", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100054", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200212", "label_en": "wild-type transthyretin amyloidosis", "label_ja": "全身性野生型トランスサイレチンアミロイドーシス", "yomigana": "ぜんしんせいやせいがたとらんすさいれちんあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200212", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal EKG | Abnormal autonomic nervous system physiology | Abnormal pulmonary interstitial morphology | Aortic valve stenosis | Arrhythmia | Atrial fibrillation | Autonomic bladder dysfunction | Bowel incontinence | Bradycardia | Chronic diarrhea | Congestive heart failure | Constrictive median neuropathy | Decreased/absent ankle reflexes | Elevated circulating alkaline phosphatase concentration | Gastrointestinal dysmotility | Hepatomegaly | Hypertrophic cardiomyopathy | Impaired vibratory sensation | Intermittent diarrhea | Myocardial infarction | Nephropathy | Nephrotic syndrome | Orthostatic hypotension due to autonomic dysfunction | Pedal edema | Pleural effusion | Proteinuria | Pulmonary edema | Renal insufficiency | Sensory neuropathy | Spinal canal stenosis | Weight loss" ], "symptoms_ja_list": [ "うっ血性心不全 | アルカリホスファターゼ上昇 | ネフローゼ症候群 | 不整脈 | 体重喪失 | 収縮性正中神経ニューロパチー | 大動脈弁狭窄 | 徐脈 | 心房細動 | 心筋梗塞 | 心電図異常 | 感覚ニューロパチー | 慢性下痢 | 振動覚障害 | 浮腫 (下肢) | 異常な自律神経生理 | 肝腫 | 肥大型心筋症 | 肺浮腫 | 胃腸蠕動運動異常 | 胸膜滲出液 | 脊椎管狭窄 | 腎不全 | 腎症 | 自律神経性機能障害による起立性低血圧 | 自律神経性膀胱機能障害 | 蛋白尿 | 足腱反射の減少/欠損 | 遺糞症 | 間歇的下痢 | 間質性肺疾患" ] }, { "id": "NANDO:2200767", "label_en": "WHIM syndrome", "label_ja": "WHIM症候群", "yomigana": "だぶるえいちあいえむしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200767", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200529", "label_en": "Dystonia 16", "label_ja": "DYT16ジストニア", "yomigana": "でぃーわいてぃー16じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200529", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormal pyramidal tract morphology | Autosomal recessive inheritance | Bradykinesia | Childhood onset | Cognitive impairment | Delayed speech and language development | Dysarthria | Dyskinesia | Dysphagia | Dysphonia | Gait disturbance | Generalized dystonia | Hyperreflexia | Intellectual disability | Involuntary movements | Juvenile onset | Laryngeal dystonia | Limb dystonia | Limb pain | Lower limb pain | Motor delay | Orofacial dyskinesia | Parkinsonism | Postural tremor | Progressive | Retrocollis | Torticollis | Unsteady gait" ], "symptoms_ja_list": [ "ジスキネジア | パーキンソン症候群 | 下肢痛 | 不安定歩行 | 不随意運動 | 全身性ジストニア | 反射亢進 | 口顔面ジスキネジア | 喉頭ジストニア | 嚥下障害 | 四肢ジストニア | 四肢痛 | 姿勢性振戦 | 常染色体潜性遺伝 | 斜頚 | 構音障害 | 歩行障害 | 発語および言語発達遅延 | 発音障害 | 直腸結腸炎 | 知的障害 | 認知障害 | 運動発達遅滞 | 運動緩徐 | 錐体路の形態異常 | 錐体路運動機能の異常" ] }, { "id": "NANDO:2200420", "label_en": "Sjogren's syndrome", "label_ja": "シェーグレン症候群", "yomigana": "しぇーぐれんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200420", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [ "Abnormal cerebellum morphology | Abnormal pulmonary interstitial morphology | Abnormal spinal cord morphology | Abnormality of blood and blood-forming tissues | Abnormality of the kidney | Abnormality of the musculature | Abnormality of the nervous system | Abnormality of the skin | Airway obstruction | Anxiety | Arteritis | Arthralgia | Arthritis | Atypical behavior | Autoimmunity | Autosomal recessive inheritance | Biliary cirrhosis | Bronchitis | Chorea | Chronic active hepatitis | Chronic hepatitis | Chronic pain | Cognitive impairment | Corneal perforation | Cryoglobulinemia | Cutis marmorata | Decreased circulating complement C3 concentration | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total lymphocyte count | Dementia | Depression | Dry skin | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Enlargement of parotid gland | Erythema nodosum | Fatigue | Functional motor deficit | Glomerulonephritis | Increased circulating immunoglobulin concentration | Keratoconjunctivitis sicca | Lymphadenopathy | Lymphocytic interstitial pneumonia | Lymphoma | Lymphoproliferative disorder | Meningitis | Morphological central nervous system abnormality | Muscle weakness | Myalgia | Myositis | Normochromic anemia | Normocytic anemia | Optic neuritis | Parotitis | Peripheral neuropathy | Polyarticular arthropathy | Purpura | Reduced circulating complement concentration | Renal insufficiency | Rheumatoid arthritis | Rheumatoid factor positive | Seizure | Sensorimotor neuropathy | Skin rash | Skin ulcer | Somatic sensory dysfunction | Thrombocytopenia | Thyroiditis | Tubulointerstitial nephritis | Vasculitis | Vitiligo | Xerostomia" ], "symptoms_ja_list": [ "CRP 上昇 | Dementia | うつ | リウマチ因子陽性 | リオグロブリン血症 | リンパ増殖性疾患 | リンパ性間質性肺炎 | リンパ球減少症 | リンパ節腫大 | リンパ腫 | 不安 | 中枢神経の形態異常 | 乾いた皮膚 | 乾燥性 | 低ガンマグロブリン血症 | 動脈炎 | 口内乾燥症 | 多関節関節症 | 大理石皮膚 | 小脳の異常 | 尿細管間質性腎炎 | 常染色体潜性遺伝 | 性色素性貧血 | 感覚運動ニューロパチー | 感覚障害 | 慢性活動性肝炎 | 慢性疼痛 | 慢性肝炎 | 末梢神経ニューロパチー | 機能的筋異常 | 正球性貧血 | 気管支炎 | 甲状腺炎 | 疲労 | 発作 | 白斑 | 白血球減少症 | 皮膚の異常 | 皮膚潰瘍 | 皮膚発疹 | 神経系の異常 | 筋の異常 | 筋炎 | 筋痛 | 筋虚弱 | 糸球体腎炎 | 紫斑 | 結節性紅斑 | 耳下腺拡大 | 耳下腺炎 | 胆汁性肝硬変 | 脊髄の異常 | 腎不全 | 腎異常 | 自己免疫 | 舞踏病 | 血小板減少 | 血液および血液痙性組織の異常 | 血清補体 C3減少 | 血管炎 | 行動異常 | 補体欠乏症 | 視神経炎 | 角膜穿孔 | 認知障害 | 赤沈値上昇 | 閉塞性肺疾患 | 間質性肺疾患 | 関節リウマチ | 関節炎 | 関節痛 | 髄膜炎 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2201037", "label_en": "Unilateral retinoblastoma (left)", "label_ja": "片側性網膜芽細胞腫（左）", "yomigana": "へんそくせいもうまくがさいぼうしゅ（ひだり）", "url": "http://nanbyodata.jp/ontology/NANDO_2201037", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200549", "label_en": "Behavioral variant frontotemporal dementia", "label_ja": "（行動異常型）前頭側頭型認知症", "yomigana": "(こうどういじょうがた)ぜんとうそくとうがたにんちしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200549", "notificationNumber": "127", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal brain FDG positron emission tomography | Abnormal cerebral white matter morphology | Abnormality of extrapyramidal motor function | Abulia | Aggressive behavior | Apathy | Aphasia | Astrocytosis | Atypical behavior | Bilateral tonic-clonic seizure | Disinhibition | Dyscalculia | Dysgraphia | Dyslexia | EEG with continuous slow activity | Echolalia | Fasciculations | Frontotemporal cerebral atrophy | Frontotemporal dementia | Gait disturbance | Hyperorality | Hyperreflexia | Inappropriate behavior | Irritability | Lack of insight | Loss of speech | Memory impairment | Mental deterioration | Motor stereotypy | Mutism | Personality changes | Poor speech | Psychosis | Restlessness | Restrictive behavior | Thickened nuchal skin fold | Upper motor neuron dysfunction" ], "symptoms_ja_list": [ "不穏状態 | 不適切行動 | 全身性間代性強直性発作 | 分厚い後部皮膚ヒダ | 前頭側頭葉萎縮 | 前頭側頭葉認知症 | 反射亢進 | 反響言語 | 口愛過度 | 大脳白質の異常 | 失語症 | 失読症. | 常同行動 | 性格変化 | 拘束性行動r | 攻撃的行動 | 星状細胞増加; | 書字障害 | 歩行障害 | 洞察欠損 | 無為 | 無言症 | 無関心", "感情鈍磨 | 異常な脳 FDG ポジトロンCT | 発語不全 | 発語喪失 | 皮質脊髄路機能障害 | 知能悪化 | 精神病 | 線維束性収縮 | 脱抑制 | 行動異常 | 被刺激性 | 計算障害 | 記憶障害 | 連続性徐波活動を伴う脳波 | 錐体外路運動機能の異常" ] }, { "id": "NANDO:1200174", "label_en": "Chronic progressive external ophthalmoplegia", "label_ja": "慢性進行性外眼筋麻痺症候群", "yomigana": "まんせいしんこうせいがいがんきんまひしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200174", "notificationNumber": "21", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201516", "label_en": "Andersen-Tawil syndrome", "label_ja": "Andersen-Tawil症候群", "yomigana": "あんだーせん・たうぃるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201516", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100307", "symptoms_en_list": [ "2-3 toe syndactyly | Abnormal T-wave | Abnormal facial shape | Abnormality of dental color | Abnormality of the dentition | Antegonial notching of mandible | Autosomal dominant inheritance | Bidirectional ventricular ectopy | Blepharophimosis | Brachydactyly | Broad forehead | Bulbous nose | Cleft palate | Clinodactyly of the 5th finger | Clinodactyly of the 5th toe | Delayed eruption of permanent teeth | Delayed skeletal maturation | Dental crowding | Depression | Dilated cardiomyopathy | Enamel hypoplasia | Episodic flaccid weakness | Facial asymmetry | Growth abnormality | Growth delay | High palate | Hypertelorism | Hyperthyroidism | Hypokalemia | Hypoplasia of the maxilla | Increased circulating aldosterone concentration | Joint hypermobility | Juvenile onset | Low-set ears | Malar flattening | Microcephaly | Micrognathia | Muscle weakness | Neurodevelopmental delay | Oligodontia | Palpitations | Periodic hyperkalemic paralysis | Periodic hypokalemic paresis | Periodic paralysis | Persistence of primary teeth | Polymorphic and polytopic ventricular extrasystoles | Preauricular pit | Premature ventricular contraction | Prolonged QT interval | Prolonged QTc interval | Prominent frontal sinuses | Renal hypoplasia | Renal tubular dysfunction | Scapular winging | Scoliosis | Seizure | Short foot | Short mandibular rami | Short metacarpal | Short metatarsal | Short palm | Short palpebral fissure | Short phalanx of finger | Short stature | Slender long bone | Small hand | Specific learning disability | Syncope | Thin upper lip vermilion | Toe syndactyly | Torsade de pointes | Triangular face | Ventricular arrhythmia | Wide nasal bridge" ], "symptoms_ja_list": [ "うつ | トルサードドポアンツ (Torsade de pointes) | 三角形の顔 | 上顎低形成 | 下顎角前切痕 | 両眼隔離 | 乏歯症 | 乳歯遺残 | 低カリウム血症 | 低身長 | 側弯 | 動悸 | 双方向性異所性心室 | 口蓋裂 | 合趾症 | 周期性低カルシウム血症性不全麻痺 | 周期性高カルシウム血症性麻痺 | 周期性麻痺 | 多形性および多源性心室性期外収縮 | 失心 | 小さい手 | 小頭 | 小顎 | 常染色体顕性遺伝 | 幅広い額 | 幅広い鼻梁 | 平坦な頬 | 弛緩性虚弱エピソード | 心室性不整脈 | 心室性期外収縮 | 心電図: T-波異常 | 成長異常 | 成長遅滞 | 拡張型心筋症 | 歯の異常 | 歯エナメル質低形成 | 歯混雑 | 歯色の異常 | 永久歯萠出遅延 | 特異的学習障害 | 球状の鼻 | 甲状腺機能亢進症 | 異常な顔の形 | 発作 | 目立つ前頭洞 | 眼瞼裂狭小 | 短い下顎枝 | 短い中手骨 | 短い中足骨 | 短い手掌 | 短い指骨 | 短い眼瞼裂 | 短い足 | 短指症候群 | 神経発生遅延 | 第2-3 合趾症 | 第5指弯指 | 第5趾弯趾 | 筋虚弱 | 細い長管骨 | 翼状肩甲骨 | 耳介低位 | 耳介前小孔 | 腎低形成 | 腎尿細管機能障害 | 薄い上口唇唇紅部 | 遷延性 QT 間隔 | 遷延性 QTc 間隔 | 関節過動 | 顔面非対称 | 骨格骨化遅延 | 高アルドステロン症 | 高口蓋" ] }, { "id": "NANDO:2100174", "label_en": "Alpha-1-antitrypsin deficiency", "label_ja": "α1-アンチトリプシン欠損症", "yomigana": "あるふぁ1あんちとりぷしんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100174", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201035", "label_en": "Kasabach-Merritt syndrome", "label_ja": "カサバッハ・メリット症候群", "yomigana": "かさばっは・めりっとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201035", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100297", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormal lymphatic vessel morphology | Anemia | Autosomal dominant inheritance | Capillary hemangioma | Chronic disseminated intravascular coagulation | Decreased total leukocyte count | Decreased total neutrophil count | Hemangioma | Hyperhidrosis | Hyperkalemia | Hypertrichosis | Hypofibrinogenemia | Microangiopathic hemolytic anemia | Neoplasm of the skin | Petechiae | Prolonged prothrombin time | Purpura | Respiratory distress | Reticulocytosis | Thrombocytopenia | Tufted angioma | Ventricular arrhythmia" ], "symptoms_ja_list": [ "タフトのある血管腫 | プロトロンビン時間遷延 | リンパ管野以上 | 低フィブリノーゲン血症 | 呼吸窮迫 | 多毛症 | 多汗 | 好中球減少症 | 常染色体顕性遺伝 | 微小血管症性溶血性貧血 | 心室性不整脈 | 慢性播種性血管内凝固 | 毛細血管血管腫 | 点状出血 | 白血球減少症 | 皮膚新生物 | 紫斑 | 網状赤血球増多症 | 腹痛 | 腹部膨満 | 血小板減少 | 血管腫 | 貧血 | 高カリウム血症" ] }, { "id": "NANDO:1200062", "label_en": "Niemann-Pick disease type B", "label_ja": "ニーマン・ピック病B型", "yomigana": "にーまん・ぴっくびょうびーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200062", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal bleeding | Abnormal blood gas level | Abnormal cerebellum morphology | Abnormal circulating lipid concentration | Abnormal heart valve morphology | Abnormal macular morphology | Abnormal pulmonary interstitial morphology | Abnormality of the nervous system | Acute promyelocytic leukemia | Anemia | Apraxia | Arthralgia | Ataxia | Attention deficit hyperactivity disorder | Atypical behavior | Autoimmune thrombocytopenia | Autosomal recessive inheritance | Bipolar affective disorder | Bone-marrow foam cells | Cherry red spot of the macula | Childhood onset | Cholelithiasis | Cirrhosis | Coronary artery atherosclerosis | Decreased circulating HDL-C concentration | Decreased liver function | Delayed gross motor development | Delayed puberty | Delayed skeletal maturation | Depression | Diffuse reticular or finely nodular infiltrations | Dyspnea | Elevated circulating LDL-C concentration | Foam cells with lamellar inclusion bodies | Generalized non-motor (absence) seizure | Hepatic failure | Hepatomegaly | Hyperlipidemia | Hypersplenism | Hypertriglyceridemia | Intellectual disability | Interstitial pneumonitis | Juvenile onset | Mental deterioration | Middle age onset | Neoplasm of the liver | Nystagmus | Osteopenia | Osteoporosis | Pathologic fracture | Peripheral neuropathy | Progressive pulmonary function impairment | Recurrent respiratory infections | Respiratory failure requiring assisted ventilation | Sea-blue histiocytosis | Short stature | Specific learning disability | Splenomegaly | Systemic lupus erythematosus | Thrombocytopenia | Young adult onset" ], "symptoms_ja_list": [ "うつ | びまん性網状または微細結節性浸潤 | 低身長 | 全身性紅斑性狼瘡 | 冠動脈疾患 | 双極性感情障害 | 反復性呼吸器感染症 | 呼吸困難 | 失行症 | 小脳の異常 | 層状封入体を伴う泡沫細胞 | 常染色体潜性遺伝 | 心弁の異常 | 思春期遅発 | 急性前骨髄球性白血病 | 末梢神経ニューロパチー | 欠神発作 | 注意力欠陥多動性疾患 | 海青組織球症 | 特異的学習障害 | 異常な出血 | 病的骨折 | 眼振 | 知的障害 | 知能悪化 | 神経系の異常 | 粗大運動発達遅延 | 肝不全 | 肝新生物 | 肝機能低下 | 肝硬変 | 肝腫 | 胆石症 | 脂質代謝の異常 | 脾機能亢進 | 脾腫 | 自己免疫性血小板減少 | 血小板減少 | 血液ガス値異常 | 行動異常 | 補助換気が必要な呼吸不全 | 貧血 | 進行性肺機能障害 | 運動失調 | 間質性肺疾患 | 間質性肺臓炎 | 関節痛 | 骨格骨化遅延 | 骨減少症 | 骨粗鬆症 | 骨髄泡沫細胞 | 高αリポ蛋白血症 | 高βリポタンパク血症 | 高トリグリセリド血症 | 高脂血症 | 黄斑のチェリーレッド斑 | 黄斑の異常" ] }, { "id": "NANDO:2200084", "label_en": "Pilocytic astrocytoma", "label_ja": "毛様細胞性星細胞腫", "yomigana": "もうようさいぼうせいせいさいぼうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200084", "notificationNumber": "68", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200164", "label_en": "Crossed renal ectopia", "label_ja": "交差性変位腎", "yomigana": "こうさせいへんいじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200164", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100163", "label_en": "Mitochondrial diseases", "label_ja": "ミトコンドリア病", "yomigana": "みとこんどりあびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100163", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201098", "label_en": "Transient receptor potential cation channel, vanilloid subfamily, member 4 (TRPV4) -associated disorders", "label_ja": "TRPV4異常症", "yomigana": "てぃーあーるぴーぶい4いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201098", "notificationNumber": "341", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100019", "label_en": "Renal tubular acidosis", "label_ja": "尿細管性アシドーシス", "yomigana": "にょうさいかんせいあしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2100019", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200286", "label_en": "Hypertrophic cardiomyopathy", "label_ja": "肥大型心筋症", "yomigana": "ひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200286", "notificationNumber": "58", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201377", "label_en": "Other epidermolysis bullosa simplex", "label_ja": "単純型表皮水疱症（その他）", "yomigana": "たんじゅんがたひょうひすいほうしょう（そのた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201377", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200221", "label_en": "Autophagic vacuolar myopathy", "label_ja": "自己貪食空胞性ミオパチー", "yomigana": "じこどんしょくくうほうせいみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200221", "notificationNumber": "32", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200994", "label_en": "NLRC4 mutation", "label_ja": "NLRC4異常症", "yomigana": "えぬえるあーるしー4いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200994", "notificationNumber": "325", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal natural killer cell physiology | Anemia | Arthralgia | Autosomal dominant inheritance | Disseminated intravascular coagulation | Elevated circulating C-reactive protein concentration | Enterocolitis | Episodic vomiting | Failure to thrive | Fatigue | Feeding difficulties in infancy | Fever | Hypoalbuminemia | Hypofibrinogenemia | Increased circulating ferritin concentration | Meningitis | Myalgia | Neonatal onset | Pancytopenia | Recurrent fever | Secretory diarrhea | Short stature | Skin rash | Splenomegaly | Thrombocytopenia | Urticaria | Villous atrophy" ], "symptoms_ja_list": [ "CRP 上昇 | ナチュラルキラー細胞生理の異常 | 低フィブリノーゲン血症 | 低身長 | 分泌性下痢 | 嘔吐エピソード | 小腸結腸炎 | 常染色体顕性遺伝 | 成長障害 (成長不全) | 播種性血管内凝固 | 汎血球減少症 | 疲労 | 発熱 | 発熱エピソード | 皮膚発疹 | 筋痛 | 絨毛萎縮 | 脾腫 | 蕁麻疹 | 血小板減少 | 血清フェリチン増加 | 貧血 | 関節痛 | 食餌摂取障害 in infancy | 髄膜炎 | 高アルブミン血症" ] }, { "id": "NANDO:2200608", "label_en": "Lipoid proteinosis", "label_ja": "リポイドタンパク症", "yomigana": "りぽいどたんぱくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200608", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100172", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal oral mucosa morphology | Abnormality of the gingiva | Acne | Aggressive behavior | Alopecia of scalp | Autosomal recessive inheritance | Bilateral intracerebral calcifications | Cerebral calcification | Childhood onset | Congenital onset | Dysphagia | Dystonia | Generalized non-motor (absence) seizure | Hallucinations | High palate | Hoarse voice | Hyperkeratosis | Infantile onset | Memory impairment | Microglossia | Nasal polyposis | Papule | Paranoia | Patchy alopecia | Pustule | Recurrent respiratory infections | Scarring | Seizure | Skin erosion | Skin plaque | Subcutaneous nodule | Thick lower lip vermilion | Thickened skin | Tongue nodules | Verrucae" ], "symptoms_ja_list": [ "?瘡 | ジストニア | パラノイア | 丘疹 | 両側性頭蓋内石灰化 | 分厚い下口唇唇紅部 | 分厚い皮膚 | 反復性呼吸器感染症 | 口腔粘膜異常 | 嗄声 | 嚥下障害 | 大脳石灰化 | 小舌 | 常染色体潜性遺伝 | 幻覚 | 攻撃的行動 | 斑状禿頭 | 欠神発作 | 歯肉の異常 | 異常な皮膚水泡 | 疣贅 | 瘢痕 | 発作 | 皮下結節 | 皮膚びらん | 皮膚局面 | 膿疱 | 舌結節 | 記憶障害 | 過角化症 | 頭髪禿頭 | 高口蓋 | 鼻ポリープ症" ] }, { "id": "NANDO:1200630", "label_en": "Conradi Hünermann Happle syndrome", "label_ja": "Conradi-Hünermann-Happle 症候群", "yomigana": "こんらーでぃひゅーねるまんはっぷる症候群", "url": "http://nanbyodata.jp/ontology/NANDO_1200630", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal hair pattern | Abnormal lung morphology | Abnormal nail morphology | Abnormal pelvic girdle bone morphology | Abnormal pinna morphology | Abnormal skull morphology | Abnormal thorax morphology | Abnormality of prenatal development or birth | Abnormality of the skin | Abnormally ossified vertebrae | Anomalous tracheal cartilage | Anterior rib punctate calcifications | Arachnoid cyst | Bilateral talipes equinovarus | Calcific stippling | Cataract | Coarse hair | Concave nasal ridge | Congenital ichthyosiform erythroderma | Congenital nonbullous ichthyosiform erythroderma | Congenital onset | Dandy-Walker malformation | Depressed nasal bridge | Downslanted palpebral fissures | Edema | Elevated 8(9)-cholestenol | Elevated 8-dehydrocholesterol | Epiphyseal stippling | Erythroderma | Facial asymmetry | Failure to thrive | Flat face | Flexion contracture | Frontal bossing | Glaucoma | Hearing impairment | Hemiatrophy | Hemivertebrae | High palate | Hip dislocation | Hydronephrosis | Hypertelorism | Hypoplastic cervical vertebrae | Ichthyosis | Kyphoscoliosis | Low-set ears | Lower limb asymmetry | Malar flattening | Microcornea | Microphthalmia | Moderate intellectual disability | Neonatal epiphyseal stippling | Neonatal hypoglycemia | Neuropathic spinal arthropathy | Nystagmus | Patchy alopecia | Patellar dislocation | Polyhydramnios | Postaxial polydactyly | Postnatal growth retardation | Punctate vertebral calcifications | Rhizomelia | Scarring alopecia of scalp | Scoliosis | Sensorineural hearing impairment | Severe postnatal growth retardation | Short neck | Short stature | Sparse eyelashes | Sparse hair | Stippled calcification in carpal bones | Talipes equinovarus | Tarsal stippling | Tracheal calcification | Tracheal stenosis | Upper limb asymmetry | Ventriculomegaly | X-linked dominant inheritance" ], "symptoms_ja_list": [ "8(9)-cholestenol 上昇 | 8-dehydrocholesterol 上昇 | Dandy-Walker 奇形 | X連鎖顕性遺伝 | くも膜嚢胞 | 上肢非対称 | 下肢非対称 | 両側性内反尖足 | 両眼隔離 | 低身長 | 側弯 | 先天性非水泡性魚鱗癬型紅皮症 | 先天性魚鱗癬型紅皮症 | 内反尖足 | 出生前または出生時発達の異常 | 前部肋骨点状石灰化 | 前頭突出", "額突出 | 半脊椎 | 四肢近位短縮 | 小眼球 | 小角膜 | 屈曲拘縮 | 平坦な頬 | 平坦な顔 | 後側弯 | 感音難聴 | 成長障害 (成長不全) | 手根骨の点状石灰化 | 斑状禿頭 | 新生児低血糖 | 新生児骨端点状石灰化 | 気管狭窄 | 気管石灰化 | 気管軟骨異常 | 水腎症 | 浮腫 | 点状石灰化 | 爪の異常 | 片側萎縮 | 生後の成長遅滞 | 異常な毛髪パターン | 疎な毛髪 | 疎な睫毛 | 白内障 | 皮膚の異常 | 眼振 | 眼瞼裂斜下 | 知的障害", "中道動脈瘤 | 短い頸部 | 窪んだ鼻梁 | 粗い毛髪 | 紅皮症 | 緑内障 | 羊水過多 | 耳介の異常 | 耳介低位 | 股関節脱臼 | 肺の異常 | 胸郭の異常 | 脊椎変形 | 脊椎点状石灰化 | 脊椎骨骨化異常 | 脳室拡大 | 膝蓋骨脱臼 | 落ちくぼんだ鼻梁 | 足根骨点状石灰化 | 軸後性多指趾症 | 重度の生後の成長遅滞 | 難聴 | 頚椎低形成 | 頭皮の瘢痕性禿頭 | 頭蓋骨の異常 | 顔面非対称 | 骨盤帯骨の形態異常 | 骨端点状石灰化 | 高口蓋 | 魚鱗癬" ] }, { "id": "NANDO:1200387", "label_en": "Hypopituitarism syndrome", "label_ja": "下垂体前葉機能低下症", "yomigana": "かすいたいぜんようきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200387", "notificationNumber": "78", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100106", "label_en": "Supramitral ring", "label_ja": "僧帽弁弁上輪", "yomigana": "そうぼうべんべんじょうりん", "url": "http://nanbyodata.jp/ontology/NANDO_2100106", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100105", "label_en": "Valvular heart disease", "label_ja": "心臓弁膜症", "yomigana": "しんぞうべんまくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100105", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200088", "label_en": "Ependymoma", "label_ja": "上衣腫", "yomigana": "じょういしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200088", "notificationNumber": "53", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Distal muscle weakness | Dysesthesia | Ependymoma | Gait disturbance | Migraine | Neoplasm of the breast | Neoplasm of the liver | Neoplasm of the lung | Ovarian neoplasm | Pain | Seizure | Spinal cord tumor | Vomiting" ], "symptoms_ja_list": [ "上衣腫 | 乳房新生物 | 偏頭痛 | 卵巣新生物 | 嘔吐 | 感覚異常 | 歩行障害 | 疼痛 | 発作 | 肝新生物 | 肺新生物 | 脊髄腫瘍 | 遠位筋虚弱" ] }, { "id": "NANDO:2100011", "label_en": "Chronic tubulointerstitial nephritis (excluding urinary tract malformation)", "label_ja": "慢性尿細管間質性腎炎", "yomigana": "まんせいにょうさいかんかんしつせいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100011", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200044", "label_en": "Spinocerebellar ataxia type 31", "label_ja": "脊髄小脳失調症31型", "yomigana": "せきずいしょうのうしっちょうしょう31がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200044", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Ataxia | Autosomal dominant inheritance | Cerebellar atrophy | Dysarthria | Gait ataxia | Gaze-evoked horizontal nystagmus | Hearing impairment | Hyperactive deep tendon reflexes | Hyperreflexia | Hyporeflexia | Impaired vibratory sensation | Late onset | Limb ataxia | Nystagmus | Sensorineural hearing impairment | Spasticity | Tremor" ], "symptoms_ja_list": [ "反射亢進 | 反射低下 | 四肢失調 | 小脳萎縮 | 常染色体顕性遺伝 | 感音難聴 | 振動覚障害 | 振戦 | 構音障害 | 歩行失調 | 注視誘発性水平性眼振 | 深部腱反射亢進 | 痙性 | 眼振 | 運動失調 | 難聴" ] }, { "id": "NANDO:1201090", "label_en": "Myopathic Ehlers-Danlos syndrome", "label_ja": "ミオパチー型エーラス・ダンロス症候群", "yomigana": "みおぱちーがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201090", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Adducted thumb | Ankle flexion contracture | Areflexia | Atrophic scars | Autosomal dominant inheritance | Blue sclerae | Congenital bilateral hip dislocation | Congenital contracture | Congenital finger flexion contractures | Congenital muscular torticollis | Decreased muscle mass | Delayed fine motor development | Difficulty running | Elbow flexion contracture | Elevated circulating creatine kinase activity | Exercise intolerance | Failure to thrive | Flexion contracture | Foot joint contracture | Generalized hypotonia | Generalized muscle weakness | High", "narrow palate | Hip dislocation | Hyperextensible skin | Hyperlordosis | Hypotonia | Increased variability in muscle fiber diameter | Joint contracture of the hand | Joint hypermobility | Knee flexion contracture | Kyphoscoliosis | Kyphosis | Laryngomalacia | Micrognathia | Mildly elevated creatine kinase | Motor delay | Multiple joint contractures | Muscle weakness | Myopathy | Myopia | Neonatal hypotonia | Pallor | Patellar subluxation | Pectus excavatum | Pes planus | Poor wound healing | Proximal muscle weakness | Scapular winging | Scoliosis | Shoulder flexion contracture | Soft skin | Talipes equinovarus | Tapered finger" ], "symptoms_ja_list": [ "creatine phosphokinase の軽度上昇 | ミオパチー | 側弯 | 傷治癒不全 | 先天性両側性股関節脱臼 | 先天性指屈曲拘縮 | 先天性筋性斜頚 | 先天性関節拘縮 | 先細りの指 | 全身性筋緊張低下 | 全身性筋虚弱 | 内反尖足 | 内転母指 | 前弯 | 喉頭軟化症 | 多発性関節拘縮 | 小顎 | 屈曲拘縮 | 常染色体顕性遺伝 | 後側弯 | 後弯 | 成長障害 (成長不全) | 扁平足 | 手関節拘縮 | 新生児筋緊張低下 | 柔らかい皮膚 | 漏斗胸 | 無反射 | 筋緊張低下 | 筋線維直径の多様性増加 | 筋虚弱 | 筋量減少 | 繊細運動発達遅延 | 翼状肩甲骨 | 肘屈曲拘縮 | 股関節脱臼 | 肩屈曲拘縮 | 膝屈曲拘縮 | 膝蓋骨亜脱臼 | 萎縮性瘢痕 | 蒼白 | 血清 creatine phosphokinase上昇 | 走行困難 | 足関節の拘縮 | 足関節拘縮 | 近位筋虚弱 | 近視 | 運動不耐症 | 運動発達遅滞 | 過伸展皮膚 | 関節過動 | 青色胸膜 sclerae | 高狭口蓋" ] }, { "id": "NANDO:1200322", "label_en": "Reticular dysgenesis", "label_ja": "細網異形成症", "yomigana": "さいもういけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200322", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal T cell physiology | Abnormality of mitochondrial metabolism | Abnormality of neutrophils | Anemia | Aplasia/Hypoplasia of the thymus | Autosomal recessive inheritance | Cellular immunodeficiency | Chronic otitis media | Combined immunodeficiency | Congenital agranulocytosis | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total lymphocyte count | Dehydration | Diarrhea | Failure to thrive | Fever | Hearing impairment | Hypoplasia of the thymus | Malabsorption | Recurrent respiratory infections | Sepsis | Severe combined immunodeficiency | Skin rash | Skin ulcer | Weight loss | obsolete Absent cellular immunity" ], "symptoms_ja_list": [ "T 細胞生理の異常 | ミトコンドリア代謝の異常 | リンパ球減少症 | 下痢 | 低ガンマグロブリン血症 | 体重喪失 | 先天性無顆粒球症 | 反復性呼吸器感染症 | 吸収障害 | 好中球の異常 | 常染色体潜性遺伝 | 慢性中耳炎 | 成長障害 (成長不全) | 敗血症 | 発熱 | 白血球減少症 | 皮膚潰瘍 | 皮膚発疹 | 細胞免疫の欠損 | 細胞免疫不全 | 胸腺低形成 | 胸腺無形成/低形成 | 脱水 | 複合型免疫不全 | 貧血 | 重症複合型免疫不全 | 難聴" ] }, { "id": "NANDO:2201208", "label_en": "Infantile-onset Niemann-Pick disease type C", "label_ja": "乳児型ニーマン・ピック病C型", "yomigana": "にゅうじがたにーまん・ぴっくびょうしーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201208", "notificationNumber": "122", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200498", "label_en": "Thomsen disease", "label_ja": "トムゼン病", "yomigana": "とむぜんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200498", "notificationNumber": "114", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Arrhythmia | Clumsiness | Dysphagia | EMG abnormality | EMG: myopathic abnormalities | EMG: myotonic discharges | Feeding difficulties in infancy | Muscle spasm | Muscle stiffness | Myalgia | Myotonia | Myotonia with warm-up phenomenon | Progressive distal muscle weakness | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "ウォームアップ減少を伴うミオトニア | ミオトニア | 不器用 | 不整脈 | 嚥下障害 | 筋けいれん | 筋痛 | 筋硬直 | 筋肥大 | 筋電図: ミオトニア放電 | 筋電図: ミオパチー異常 | 筋電図異常 | 進行性遠位筋虚弱 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:2200568", "label_en": "Mucolipidosis III", "label_ja": "ムコリピドーシスIII型", "yomigana": "むこりぴどーしす3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200568", "notificationNumber": "136", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abdominal wall muscle weakness | Abnormal cardiovascular system morphology | Abnormal hip bone morphology | Abnormal vertebral body morphology | Aortic regurgitation | Autosomal recessive inheritance | Bone pain | Broad ribs | Bullet-shaped distal phalanges of the hand | C1-C2 subluxation | Cardiomyopathy | Carpal bone hypoplasia | Childhood onset | Chronic pain | Coarse facial features | Cognitive impairment | Conductive hearing impairment | Congestive heart failure | Constrictive median neuropathy | Corneal opacity | Craniofacial hyperostosis | Craniosynostosis | Deficiency of N-acetylglucosamine-1-phosphotransferase | Depressed nasal bridge | Diastasis recti | Dysostosis multiplex | Elevated circulating beta-hexosaminidase activity | Epicanthus | Failure to thrive | Fatigue | Flexion contracture | Full cheeks | Gait disturbance | Genu valgum | Gingival overgrowth | Global developmental delay | Hepatomegaly | Hip dysplasia | Hoarse voice | Hyperlordosis | Hyperopic astigmatism | Hypertonia | Hypoplastic inferior ilia | Increased iduronate sulfatase level | Infantile onset | Inguinal hernia | Intellectual disability | Irregular carpal bones | J-shaped sella turcica | Joint stiffness | Juvenile onset | Keratan sulfate excretion in urine | Knee flexion contracture | Kyphoscoliosis | Kyphosis | Large iliac wing | Limitation of joint mobility | Loss of ambulation | Low-set ears | Lumbar hemivertebrae | Mandibular prognathia | Microcephaly | Mitral regurgitation | Mitral valve prolapse | Motor polyneuropathy | Mucopolysacchariduria | Oligosacchariduria | Opacification of the corneal stroma | Osteoarthritis | Osteolysis | Osteopenia | Pectus carinatum | Plagiocephaly | Postnatal growth retardation | Prominent occiput | Proptosis | Recurrent otitis media | Recurrent upper respiratory tract infections | Reduced bone mineral density | Restrictive ventilatory defect | Retinal degeneration | Retinopathy | Right ventricular hypertrophy | Scoliosis | Sensorineural hearing impairment | Sensory neuropathy | Severely reduced left ventricular ejection fraction | Shallow acetabular fossae | Short long bone | Short neck | Short ribs | Short stature | Small for gestational age | Soft tissue swelling of interphalangeal joints | Specific learning disability | Spinal cord compression | Splenomegaly | Spondylolisthesis | Thick vermilion border | Thickened skin | Trigonocephaly | Umbilical hernia | Visual impairment | Waddling gait | Young adult onset" ], "symptoms_ja_list": [ "C1-C2 亜脱臼 | J字型トルコ鞍 | N-acetylglucosamine-1-phosphotransferase 欠乏症 | うっ血性心不全 | はと胸 | よたつき歩行 | オリゴ糖尿 | ムコ多糖症 | 三角頭蓋 | 下顎突出 | 不規則な手根骨 | 伝音難聴 | 低身長 | 側弯 | 僧帽弁逆流 | 僧帽弁逸脱 | 全般性発達遅滞 | 内眼角贅皮 | 分厚い唇紅部縁 | 分厚い皮膚 | 前弯 | 反復性上気道感染症 | 反復性中耳炎 | 収縮性正中神経ニューロパチー | 右室肥大 | 嗄声 | 在胎月齢より小さい児 | 外反膝 | 多発性異骨症 | 大きな腸骨翼 | 大きな頬 | 大動脈逆流 | 寛骨の異常 | 小頭 | 尿中硫酸ケラタン排泄 | 屈曲拘縮 | 常染色体潜性遺伝 | 幅広い肋骨 | 弾丸型の手の末節骨 | 後側弯 | 後弯 | 循環器系の形態異常 | 心筋症 | 感覚ニューロパチー | 感音難聴 | 慢性疼痛 | 成長障害 (成長不全) | 手根骨低形成 | 拘束性肺疾患 | 指間 (IP)関節の軟部組織腫脹 | 斜頭 | 椎体骨形態異常 | 歩行障害 | 歯肉過成長 | 浅い寛骨臼窩 | 特異的学習障害 | 生後の成長遅滞 | 疲労 | 目立つ後頭 | 眼球突出 | 知的障害 | 短い肋骨 | 短い長管骨 | 短い頸部 | 筋緊張亢進 | 粗な顔貌 | 網膜変性 | 網膜症 | 耳介低位 | 肝腫 | 股関節異形成 | 脊椎すべり症 | 脊髄圧迫 | 脾腫 | 腰椎半脊椎 | 腸骨下部低形成 | 腹直筋離開 | 腹筋虚弱 | 膝屈曲拘縮 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 血清 beta-hexosaminidase の増加 | 血清 iduronate sulfatase 活性の増加 | 視力障害 | 角膜混濁 | 角膜間質混濁形成 | 認知障害 | 進行性歩行不安定 | 運動性ポリニューロパチー | 遠視性乱視 | 関節拘縮 | 関節運動制限 | 頭蓋合骨症 | 頭蓋顔面過骨症 | 駆出分画の重度の減少 | 骨ミネラル濃度減少 | 骨減少症 | 骨痛 | 骨融解 | 骨関節炎 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201445", "label_en": "Acquired generalized lipodystrophy", "label_ja": "後天性全身性脂肪萎縮症", "yomigana": "こうてんせいぜんしんせいしぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201445", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100147", "symptoms_en_list": [ "Abnormal cardiovascular system physiology | Abnormal circulating lipid concentration | Abnormality of complement system | Acanthosis nigricans | Accelerated skeletal maturation | Acute pancreatitis | Astrocytoma | Autoimmunity | Calf muscle pseudohypertrophy | Cardiomyopathy | Cirrhosis | Generalized hirsutism | Generalized hyperpigmentation | Generalized lipodystrophy | Hepatic steatosis | Hepatomegaly | Hyperinsulinemia | Hypertension | Hypertriglyceridemia | Insulin resistance | Insulin-resistant diabetes mellitus | Lymphoma | Myopathy | Panniculitis | Polycystic ovaries | Progeroid facial appearance | Proteinuria | Unicameral bone cyst" ], "symptoms_ja_list": [ "インスリン抵抗性 | インスリン抵抗性糖尿病 | プロゲリア様顔貌 | ミオパチー | リンパ腫 | 全身性リポジストロフィー | 全身性多毛 | 全身性高色素 | 単房性骨嚢胞 | 多嚢胞性卵巣 | 心筋症 | 心血管系生理の異常 | 急性膵炎 | 星状細胞腫 | 肝硬変 | 肝腫 | 脂肪織炎 | 脂肪肝 | 脂質代謝の異常 | 腓腹筋仮性肥大 | 自己免疫 | 蛋白尿 | 補体系の異常 | 骨成熟促進 | 高インスリン血症 | 高トリグリセリド血症 | 高血圧 | 黒色表皮腫" ] }, { "id": "NANDO:1200679", "label_en": "Sotos syndrome", "label_ja": "ソトス症候群", "yomigana": "そとすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200679", "notificationNumber": "194", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "2-3 toe syndactyly | Abnormal heart morphology | Abnormal vertebral morphology | Abnormality of the dentition | Abnormality of the kidney | Absent speech | Accelerated skeletal maturation | Acute lymphoblastic leukemia | Advanced eruption of teeth | Aganglionic megacolon | Agenesis of permanent teeth | Aggressive behavior | Ankle flexion contracture | Anteverted nares | Anxiety | Aortic aneurysm | Aplasia/Hypoplasia of the corpus callosum | Arachnoid cyst | Astigmatism | Astrocytoma | Atrial septal defect | Attention deficit hyperactivity disorder | Atypical behavior | Autistic behavior | Autosomal dominant inheritance | Bilateral camptodactyly | Bilateral tonic-clonic seizure | Broad forehead | Broad nasal tip | Cataract | Cavum septum pellucidum | Cerebellar vermis hypoplasia | Cerebral atrophy | Childhood onset | Cholesteatoma | Chronic otitis media | Coarse facial features | Conductive hearing impairment | Congenital posterior urethral valve | Constipation | Craniosynostosis | Cryptorchidism | Decreased fertility | Decreased fetal movement | Delayed eruption of permanent teeth | Delayed speech and language development | Depressed nasal bridge | Dolichocephaly | Downslanted palpebral fissures | Dyscalculia | Enlarged cisterna magna | Enlarged naris | Episodic vomiting | Esotropia | Expressive language delay | Feeding difficulties | Fetal onset | Flexion contracture | Focal impaired awareness seizure | Frontal bossing | Gastroesophageal reflux | Generalized myoclonic seizure | Generalized non-motor (absence) seizure | Genu valgum | Global developmental delay | Glucose intolerance | Hearing impairment | Hemangioma | High anterior hairline | High forehead | High palate | High", "narrow palate | Hip contracture | Hydrocele testis | Hydronephrosis | Hypercalcemia | Hypermetropia | Hyperpigmentation of the skin | Hyperreflexia | Hypertelorism | Hypodontia | Hypopigmentation of the skin | Hypospadias | Hypothyroidism | Hypotonia | Incoordination | Increased arm span | Increased body weight | Inguinal hernia | Intellectual disability | Joint hypermobility | Kyphosis | Large hands | Long face | Long foot | Long metacarpals | Long phalanx of finger | Low-set ears | Macrocephaly | Macrotia | Mandibular prognathia | Mild intellectual disability | Moderate intellectual disability | Motor delay | Muscular ventricular septal defect | Myopia | Narrow face | Narrow jaw | Narrow palate | Neonatal hypoglycemia | Neonatal hypotonia | Neonatal onset | Neoplasm | Neuroblastoma | Nystagmus | Otitis media | Overgrowth | Partial agenesis of the corpus callosum | Patent ductus arteriosus | Pectus excavatum | Pedal edema | Pes planus | Phimosis | Pointed chin | Posteriorly rotated ears | Prolonged neonatal jaundice | Prominent forehead | Renal agenesis | Renal insufficiency | Scoliosis | Seizure | Severe intellectual disability | Small nail | Sparse anterior scalp hair | Strabismus | Talipes equinovarus | Tall stature | Tremor | Triangular face | Umbilical hernia | Ureteral duplication | Ureteropelvic junction obstruction | Ventricular septal defect | Ventriculomegaly | Vesicoureteral reflux" ], "symptoms_ja_list": [ "くも膜嚢胞 | コレステリン腫 | 三角形の顔 | 上向きの鼻孔 | 下顎突出 | 不安 | 両側性屈指 | 両眼隔離 | 中耳炎 | 乱視 | 伝音難聴 | 体重増加 | 便秘 | 停留精巣 | 側弯 | 先天性後部尿道弁 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 内反尖足 | 内斜視 | 前頭突出", "額突出 | 動脈管開存症 | 協調運動障害 | 反射亢進 | 嘔吐エピソード | 外反膝 | 大きな手 | 大動脈瘤 | 大槽拡大 | 大耳 | 大脳萎縮 | 大頭 | 妊孕性減少 | 小さい爪 | 小脳虫部低形成 | 尖った下顎 | 尿管腎盂接合部閉塞 | 尿管重複 | 尿道下裂 | 屈曲拘縮 | 常染色体顕性遺伝 | 幅広い額 | 幅広い鼻尖 | 後弯 | 心室中隔欠損 | 心形態の異常 | 心房中隔欠損 | 急性リンパ性白血病 | 意識または覚醒障害を伴う焦点性発作 | 慢性中耳炎 | 扁平足 | 振戦 | 攻撃的行動 | 斜視 | 新生児低血糖 | 新生児筋緊張低下 | 新生物 | 方形 | 星状細胞腫 | 欠神発作 | 歯の異常 | 歯萠出促進 | 水腎症 | 永久歯無発生 | 永久歯萠出遅延 | 注意力欠陥多動性疾患 | 浮腫 (下肢) | 減歯症 | 漏斗胸 | 無神経節性巨大結腸 | 狭い下顎 | 狭い口蓋 | 狭い顔 | 甲状腺機能低下症 | 疎な前部頭髪 | 発作 | 発語および言語発達遅延 | 発語欠損 | 発語遅延 | 白内障 | 皮膚低色素 | 皮膚高色素 | 目立つ額 | 眼振 | 眼瞼裂斜下 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "軽度 | 知的障害", "重度 | 神経芽腫 | 第2-3 合趾症 | 筋性心室中隔欠損 | 筋緊張低下 | 粗な顔貌 | 耐糖能異常 | 耳介低位 | 耳介後方回転 | 股関節拘縮 | 胃食道逆流 | 胎動減少 | 脊椎の異常 | 脳室拡大 | 脳梁の部分的無発生 | 脳梁無形成/低形成 | 腎不全 | 腎無発生 | 腎異常 | 腕長増加 | 膀胱尿管逆流 | 臍ヘルニア | 自閉性行動 | 落ちくぼんだ鼻梁 | 血管腫 | 行動異常 | 計算障害 | 足関節拘縮 | 近視 | 透明中隔嚢胞 | 運動発達遅滞 | 過成長 | 遠視 | 遷延性新生児黄疸 | 長い中手骨 | 長い指骨 | 長い足 | 長い顔 | 長頭 | 関節過動 | 陰嚢水腫 | 難聴 | 頭蓋合骨症 | 食餌摂取障害 | 骨成熟促進 | 高い前部毛髪線 | 高い額 | 高カルシウム血症 | 高口蓋 | 高狭口蓋 | 高身長 | 鼠径ヘルニア | 鼻孔拡大" ] }, { "id": "NANDO:2100275", "label_en": "Hirschsprung disease and related disease", "label_ja": "ヒルシュスプルング病及び類縁疾患", "yomigana": "ひるしゅすぷるんぐびょうおよびるいえんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100275", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201070", "label_en": "Subcortical band heterotopia", "label_ja": "皮質下帯状異所性灰白質", "yomigana": "ひしつかたいじょういしょせいはいはくしつ", "url": "http://nanbyodata.jp/ontology/NANDO_1201070", "notificationNumber": "138", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200930", "label_en": "biliary atresia", "label_ja": "胆道閉鎖症", "yomigana": "たんどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200930", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [ "Abnormal facial shape | Acholic stools | Atretic gallbladder | Bile duct proliferation | Cholestasis | Cirrhosis | Conjugated hyperbilirubinemia | Decreased liver function | Elevated circulating alkaline phosphatase concentration | Elevated circulating hepatic transaminase concentration | Failure to thrive | Fat malabsorption | Hepatomegaly | Hypothyroidism | Jaundice | Ophthalmoplegia | Periportal fibrosis | Prolonged neonatal jaundice | Prolonged prothrombin time | Pruritus | Seizure | Severe failure to thrive | Small for gestational age | Splenomegaly | Xanthelasma" ], "symptoms_ja_list": [ "アルカリホスファターゼ上昇 | プロトロンビン時間遷延 | 在胎月齢より小さい児 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 掻痒 | 無胆汁便 | 甲状腺機能低下症 | 異常な顔の形 | 発作 | 眼筋麻痺 | 肝トランスアミナーゼ上昇 | 肝機能低下 | 肝硬変 | 肝腫 | 胆嚢閉鎖 | 胆汁うっ滞 | 胆管増殖 | 脂肪吸収不全 | 脾腫 | 遷延性新生児黄疸 | 重度の成長障害 (成長不全) | 門脈周囲線維症 | 黄疸 | 黄色板症" ] }, { "id": "NANDO:2100271", "label_en": "obsolete Congenital hepatoportal arteriovenous fistula", "label_ja": "obsolete 門脈・肝動脈瘻", "yomigana": "もんみゃく・かんどうみゃくろう", "url": "http://nanbyodata.jp/ontology/NANDO_2100271", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201117", "label_en": "Acute-onset isovaleric acidemia", "label_ja": "急性発症型イソ吉草酸血症", "yomigana": "きゅうせいはっしょうがたいそきっそうさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201117", "notificationNumber": "95", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200386", "label_en": "Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone", "label_ja": "下垂体性成長ホルモン分泌亢進症", "yomigana": "かすいたいせいせいちょうほるもんぶんぴつこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200386", "notificationNumber": "77", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200890", "label_en": "Congenital rubella syndrome", "label_ja": "先天性風疹症候群", "yomigana": "せんてんせいふうしんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200890", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100243", "symptoms_en_list": [ "Abnormal cranial suture/fontanelle morphology | Abnormal metaphysis morphology | Abnormal retinal pigmentation | Abnormal speech pattern | Abnormality of the pulmonary artery | Anemia | Aplasia/Hypoplasia of the iris | Atrial septal defect | Cataract | Corneal opacity | Glaucoma | Hepatomegaly | Hypotonia | Intellectual disability | Intrauterine growth retardation | Jaundice | Microcephaly | Microphthalmia | Nystagmus | Patent ductus arteriosus | Seizure | Sensorineural hearing impairment | Short stature | Skin rash | Spastic diplegia | Splenomegaly | Strabismus | Thrombocytopenia | Type I diabetes mellitus | Ventricular septal defect | Visual impairment" ], "symptoms_ja_list": [ "I 型糖尿病 | 低身長 | 動脈管開存症 | 子宮内成長遅滞 | 小眼球 | 小頭 | 心室中隔欠損 | 心房中隔欠損 | 感音難聴 | 斜視 | 泉門と頭蓋骨縫合の異常 | 痙性両麻痺 | 発作 | 白内障 | 皮膚発疹 | 眼振 | 知的障害 | 神経学的発語障害 | 筋緊張低下 | 網膜色素異常 | 緑内障 | 肝腫 | 肺動脈の異常 | 脾腫 | 虹彩無形成/低形成 | 血小板減少 | 視力障害 | 角膜混濁 | 貧血 | 骨幹端の異常 | 黄疸" ] }, { "id": "NANDO:2100116", "label_en": "Syndrome of inappropriate secretion of antidiuretic hormone", "label_ja": "抗利尿ホルモン不適切分泌症候群", "yomigana": "こうりにょうほるもんふてきせつぶんぴつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100116", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201009", "label_en": "Systemic granulomatosis with polyangiitis", "label_ja": "全身型多発血管炎性肉芽腫症", "yomigana": "ぜんしんがたたはつけっかんえんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201009", "notificationNumber": "44", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal oral cavity morphology | Abnormality of the hypothalamus-pituitary axis | Abnormality of the nose | Angina pectoris | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Cerebral ischemia | Chest pain | Chronic otitis media | Chronic pulmonary obstruction | Concave nasal ridge | Conjunctivitis | Cough | Cranial nerve paralysis | Diabetes insipidus | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Episcleritis | Epistaxis | Fatigue | Fever | Gangrene | Gastrointestinal hemorrhage | Glomerulonephritis | Glomerulopathy | Granulomatosis | Headache | Hematuria | Hemiplegia | Hemoptysis | Hydronephrosis | Hypertension | Increased inflammatory response | Inflammatory abnormality of the eye | Intestinal obstruction | Keratitis | Meningitis | Middle age onset | Myalgia | Nasolacrimal duct obstruction | Nausea and vomiting | Oral ulcer | Otitis media | Pancreatitis | Papule | Pericarditis | Periorbital edema | Peripheral neuropathy | Pleural effusion | Pleuritis | Polyarticular arthritis | Polygenic inheritance | Proptosis | Prostatitis | Proteinuria | Pulmonary fibrosis | Pulmonary infiltrates | Purpura | Recurrent intrapulmonary hemorrhage | Recurrent respiratory infections | Renal insufficiency | Respiratory insufficiency | Restrictive ventilatory defect | Retinal hemorrhage | Retinopathy | Scleritis | Seizure | Sensorineural hearing impairment | Sensory neuropathy | Sinusitis | Skin rash | Skin ulcer | Subglottic stenosis | Tracheal stenosis | Ureteral stenosis | Uveitis | Vasculitis | Venous thrombosis | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | ブドウ膜炎 | 上強膜炎 | 不整脈 | 丘疹 | 中耳炎 | 体重喪失 | 共通 | 前立腺炎 | 副鼻腔炎 | 反復性呼吸器感染症 | 反復性肺内出血 | 口腔の異常 | 口腔潰瘍 | 吐気と 嘔吐 | 呼吸不全 | 喀血 | 壊疽 | 声門下狭窄 | 外層 | 多因子遺伝 | 多関節関節炎 | 大脳虚血 | 尿崩症 | 尿管狭窄 | 心外膜炎 | 感覚ニューロパチー | 感音難聴 | 慢性中耳炎 | 慢性閉塞性肺疾患 | 拘束性肺疾患 | 末梢神経ニューロパチー | 気管狭窄 | 水腎症 | 炎症反応増加 | 片麻痺 | 狭心症 | 疲労 | 発作 | 発熱 | 皮膚潰瘍 | 皮膚発疹 | 眼の炎症性異常 | 眼球突出 | 眼窩周囲浮腫 | 窪んだ鼻梁 | 筋痛 | 糸球体症 | 糸球体腎炎 | 紫斑 | 結膜炎 | 網膜出血 | 網膜症 | 肉芽腫症 | 肺浸潤 | 肺線維症 | 胃腸出血 | 胸膜滲出液 | 胸膜炎 | 脳神経麻痺 | 腎不全 | 腸閉塞 | 腹痛 | 膵炎 | 自己免疫 | 蛋白尿 | 血尿 | 血管炎 | 視力障害 | 視床下部-下垂体軸異常 | 角膜炎 | 赤沈値上昇 | 関節炎 | 関節痛 | 静脈血栓症 | 頭痛 | 髄膜炎 | 高血圧 | 鼻の異常 | 鼻出血 | 鼻涙管閉塞" ] }, { "id": "NANDO:2200433", "label_en": "TNF receptor-associated periodic fever syndrome", "label_ja": "TNF受容体関連周期性症候群", "yomigana": "てぃーえぬえふじゅようたいかんれんしゅうきせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200433", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abdominal pain | Abnormal myocardium morphology | Abnormal sacroiliac joint morphology | Arthralgia | Arthritis | Atypical behavior | Autosomal dominant inheritance | Bone pain | Bruising susceptibility | Cellulitis | Chest pain | Chronic constipation | Chronic diarrhea | Conjunctivitis | Constipation | Cranial nerve paralysis | Diarrhea | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Erysipelas | Erythema | Fasciitis | Gastrointestinal hemorrhage | Headache | Hepatic amyloidosis | Hepatomegaly | Hypermelanotic macule | Increased total leukocyte count | Intestinal obstruction | Lymphadenopathy | Macule | Migraine | Muscle stiffness | Myalgia | Myositis | Orchitis | Paresthesia | Pericarditis | Periorbital edema | Peritonitis | Pleuritis | Polyarticular arthritis | Recurrent fever | Recurrent pharyngitis | Skin rash | Splenomegaly | Uveitis | Vasculitis | Vertigo | Vomiting" ], "symptoms_ja_list": [ "CRP 上昇 | ブドウ膜炎 | メラニン増加性斑 | リンパ節腫大 | 下痢 | 丹毒 | 仙腸関節の異常 | 便秘 | 偏頭痛 | 共通 | 出血傾向 | 反復性咽頭炎 | 嘔吐 | 多関節関節炎 | 常染色体顕性遺伝 | 心外膜炎 | 心筋の異常 | 感覚異常 | 慢性下痢 | 慢性便秘 | 斑 | 発熱エピソード | 白血球増多症 | 皮膚発疹 | 眩暈 | 眼窩周囲浮腫 | 筋炎 | 筋痛 | 筋硬直 | 筋膜炎 | 精巣炎 | 紅斑 | 結膜炎 | 肝アミロイドーシス | 肝腫 | 胃腸出血 | 胸膜炎 | 脳神経麻痺 | 脾腫 | 腸閉塞 | 腹痛 | 腹膜炎 | 蜂巣織炎 | 血管炎 | 行動異常 | 赤沈値上昇 | 関節炎 | 関節痛 | 頭痛 | 骨痛" ] }, { "id": "NANDO:1200223", "label_en": "X-linked Myopathy with excessive autophagy", "label_ja": "過剰自己貪食を伴うＸ連鎖性ミオパチー", "yomigana": "かじょうじこどんしょくをともなうえっくすれんさせいみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200223", "notificationNumber": "32", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of the cardiovascular system | Childhood onset | Difficulty climbing stairs | Difficulty running | Elevated circulating creatine kinase activity | Flexion contracture | Gowers sign | Intellectual disability | Limited extraocular movements | Motor delay | Muscle fiber necrosis | Myopathy | Myotonia | Neonatal hypotonia | Proximal lower limb amyotrophy | Proximal lower limb muscle weakness | Respiratory insufficiency | Scoliosis | Skeletal muscle atrophy | Slowly progressive | Typified by incomplete penetrance | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Gowers サイン | X連鎖潜性遺伝 | ミオトニア | ミオパチー | 下肢の近位筋虚弱 | 側弯 | 呼吸不全 | 外眼球運動制限 | 屈曲拘縮 | 心血管系 | 新生児筋緊張低下 | 知的障害 | 筋線維壊死 | 筋萎縮 | 血清 creatine phosphokinase上昇 | 走行困難 | 近位下肢筋萎縮 | 運動発達遅滞 | 階段の登り困難" ] }, { "id": "NANDO:2201285", "label_en": "Altman type II sacrococcygeal teratoma", "label_ja": "仙尾部奇形腫（Altman II型）", "yomigana": "せんびぶきけいしゅ（あるとまん2がた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201285", "notificationNumber": "57", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100216", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200095", "label_en": "Pituitary adenoma", "label_ja": "下垂体腺腫", "yomigana": "かすいたいせんしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200095", "notificationNumber": "50", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200405", "label_en": "Multiple endocrine neoplasia type 1", "label_ja": "多発性内分泌腫瘍1型", "yomigana": "たはつせいないぶんぴつしゅよう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200405", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100148", "symptoms_en_list": [ "Abdominal pain | Adenoma sebaceum | Adrenocortical abnormality | Adrenocortical adenoma | Adrenocortical carcinoma | Adult onset | Amenorrhea | Angiofibromas | Anorexia | Atypical absence status epilepticus | Autosomal dominant inheritance | Cafe-au-lait spot | Carcinoid tumor | Coma | Confetti-like hypopigmented macules | Confusion | Constipation | Cranial nerve compression | Dehydration | Depression | Diarrhea | Duodenal ulcer | Elevated circulating calcitonin concentration | Elevated circulating growth hormone concentration | Ependymoma | Esophagitis | Galactorrhea | Gastroesophageal reflux | Gingival fibromatosis | Goiter | Headache | Hematemesis | Hypercalcemia | Hypercalciuria | Hypertension | Hypoglycemia | Impotence | Increased circulating cortisol level | Increased circulating prolactin concentration | Increased serum serotonin | Increased susceptibility to fractures | Insulinoma | Intestinal carcinoid | Kidney stone | Large cafe-au-lait macules with irregular margins | Lethargy | Melena | Meningioma | Multiple lipomas | Nausea | Neoplasm of the pancreas | Osteolysis | Pancreatic islet cell adenoma | Parathyroid adenoma | Parathyroid carcinoma | Parathyroid hyperplasia | Peptic ulcer | Pheochromocytoma | Pituitary adenoma | Pituitary corticotropic cell adenoma | Pituitary gonadotropic cell adenoma | Pituitary growth hormone cell adenoma | Pituitary null cell adenoma | Pituitary prolactin cell adenoma | Pituitary thyrotropic cell adenoma | Primary hypercortisolism | Primary hyperparathyroidism | Proportionate tall stature | Reduced bone mineral density | Short attention span | Shortened QT interval | Subcutaneous lipoma | Thymoma | Thyroid adenoma | Thyroid carcinoma | Vomiting | Weight loss | Zollinger-Ellison syndrome" ], "symptoms_ja_list": [ "Confetti 様低色素斑 | Zollinger-Ellison 症候群 | うつ | インスリノーマ | インポテンス | カフェオーレ斑 | カルシトニン上昇 | カルチノイド | プロラクチン過剰症 | 上衣腫 | 下垂体ゴナドトロピン産生細胞腺腫 | 下垂体ヌル細胞腺腫 | 下垂体プロラクチン細胞腺腫 | 下垂体副腎皮質刺激ホルモン分泌細胞腺腫 | 下垂体成長ホルモン細胞腺腫 | 下垂体甲状腺刺激ホルモン産生細胞腺腫 | 下垂体腺腫 | 下痢 | 下血 | 不均衡型高身長 | 不規則な縁を伴う大きなカフェオーレ斑 | 乳汁漏出 | 低血糖 | 体重喪失 | 便秘 | 副甲状腺癌 | 副甲状腺腺腫 | 副甲状腺過形成 | 副腎皮質異常 | 副腎皮質癌 | 副腎皮質腺腫 | 十二指腸潰瘍 | 原発性副甲状腺機能亢進症 | 原発性副腎皮質機能亢進症 | 吐気 | 吐血 | 嘔吐 | 多発性脂肪腫 | 常染色体顕性遺伝 | 循環性コルチゾール 値増加 | 成長ホルモン過剰症 | 昏睡 | 易骨折性の増加 | 歯肉線維腫症 | 消化性潰瘍 | 無月経 | 無気力 | 甲状腺癌 | 甲状腺腫 | 甲状腺腺腫 | 皮下脂肪腫 | 皮脂腺腺腫 | 短い QT 間隔 | 短い注意期間 | 胃食道逆流 | 胸腺腫 | 脱水 | 脳神経圧迫 | 腎結石 | 腸カルチノイド | 腹痛 | 膵新生物 | 膵頭部細胞腺腫 | 血清セロトニン増加 | 血管線維腫 | 褐色細胞腫 | 鈍麻状態 | 錯乱 | 頭痛 | 食思不振 | 食道炎 | 骨ミネラル濃度減少 | 骨融解 | 髄膜腫 | 高カルシウム尿 | 高カルシウム血症 | 高血圧" ] }, { "id": "NANDO:1200024", "label_en": "Relapsing-remitting multiple sclerosis", "label_ja": "再発寛解型多発性硬化症", "yomigana": "さいはつかんかいがたたはつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200024", "notificationNumber": "13", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201008", "label_en": "Thoracic insufficiency syndrome", "label_ja": "胸郭不全症候群", "yomigana": "きょうかくふぜんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201008", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100292", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201149", "label_en": "Trifunctional protein deficiency, intermediate type", "label_ja": "乳幼児期発症型三頭酵素欠損症", "yomigana": "にゅうようじきはっしょうがたさんとうこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201149", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100216", "label_en": "Sacrococcygeal teratoma", "label_ja": "仙尾部奇形腫", "yomigana": "せんびぶきけいしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2100216", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201355", "label_en": "Stickler-like syndrome", "label_ja": "Stickler様症候群", "yomigana": "すてぃっくらーようしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201355", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200456", "label_en": "Eosinophilic esophagitis", "label_ja": "好酸球性食道炎", "yomigana": "こうさんきゅうせいしょくどうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200456", "notificationNumber": "98", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200746", "label_en": "Pulmonary alveolar proteinosis", "label_ja": "肺胞蛋白症", "yomigana": "はいほうたんぱくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200746", "notificationNumber": "229", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal circulating protein concentration | Acute infectious pneumonia | Cough | Failure to thrive in infancy | Foam cells | Hypoxemia | Respiratory distress | Respiratory failure requiring assisted ventilation | Restrictive ventilatory defect | Tachycardia | Tachypnea" ], "symptoms_ja_list": [ "乳児期の成長障害 (成長不全) | 低酸素血症への感受性の減少 | 呼吸窮迫 | 外層 | 多呼吸 | 循環性タンパク値の異常 | 急性感染性肺炎 | 拘束性肺疾患 | 泡沫細胞 | 補助換気が必要な呼吸不全 | 頻拍" ] }, { "id": "NANDO:2200719", "label_en": "Isolated IgG subclass deficiency", "label_ja": "IgGサブクラス欠損症", "yomigana": "あいじーじーさぶくらすけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200719", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100205", "symptoms_en_list": [ "Allergic rhinitis | Arthralgia | Arthritis | Asthma | Atopic dermatitis | Autoimmunity | Autosomal recessive inheritance | Bronchiectasis | Bronchitis | Celiac disease | Childhood onset | Cholecystitis | Chronic diarrhea | Chronic gastritis | Chronic sinusitis | Decreased circulating IgA concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased circulating specific pneumococcal antibody concentration | Diabetes mellitus | Diarrhea | Epididymitis | Fatigue | Liver abscess | Lymphoma | Myalgia | Pneumonia | Psoriasiform dermatitis | Recurrent bacterial infections | Recurrent herpes | Recurrent infections | Recurrent lower respiratory tract infections | Recurrent otitis media | Recurrent pneumonia | Recurrent respiratory infections | Recurrent tonsillitis | Recurrent upper respiratory tract infections | Recurrent urinary tract infections | Rheumatoid arthritis | Scleroderma | Sepsis | Skin rash | Systemic lupus erythematosus | Viral hepatitis" ], "symptoms_ja_list": [ "IgA欠乏症 | IgG欠乏症 | IgM欠乏症 | アトピー性皮膚炎 | アレルギー性鼻炎 | ウイルス性肝炎 | セリアック秒 | ヘルペスウイルスへの感受性 | リンパ腫 | 下痢 | 乾癬 | 全身性紅斑性狼瘡 | 反復性上気道感染症 | 反復性下気道感染症 | 反復性中耳炎 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性感染症 | 反復性細菌感染症 | 反復性肺炎 | 喘息 | 常染色体潜性遺伝 | 強皮症 | 慢性下痢 | 慢性副鼻腔炎 | 慢性胃炎 | 扁桃炎 | 敗血症 | 気管支拡張 | 気管支炎 | 特異的肺炎球菌抗体欠乏症 | 疲労 | 皮膚発疹 | 筋痛 | 精巣上体炎 | 糖尿病 | 肝膿瘍 | 肺炎 | 胆嚢炎 | 自己免疫 | 関節リウマチ | 関節炎 | 関節痛" ] }, { "id": "NANDO:1200841", "label_en": "Hepatic glycogen storage disease type Ib", "label_ja": "肝型糖原病Ib型", "yomigana": "かんがたとうげんびょう1びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200841", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal bleeding | Abnormal circulating enzyme concentration or activity | Abnormal myeloid leukocyte morphology | Abnormality of von Willebrand factor | Absence of bactericidal oxidative respiratory burst in phagocytes | Anemia | Autosomal recessive inheritance | Bruising susceptibility | Carious teeth | Chronic pancreatitis | Cognitive impairment | Decreased circulating vitamin D concentration | Decreased glomerular filtration rate | Decreased total neutrophil count | Delayed eruption of permanent teeth | Delayed puberty | Diarrhea | Doll-like facies | Elevated circulating hepatic transaminase concentration | Enlarged kidney | Enterocolitis | Epistaxis | Failure to thrive | Focal segmental glomerulosclerosis | Full cheeks | Gingivitis | Global developmental delay | Gout | Growth delay | Hematuria | Hepatic steatosis | Hepatoblastoma | Hepatocellular adenoma | Hepatocellular carcinoma | Hepatomegaly | Hypercholesterolemia | Hyperlipidemia | Hypertension | Hypertriglyceridemia | Hyperuricemia | Hypoglycemia | Hypoglycemic seizures | Hypothyroidism | Increased hepatic glycogen content | Increased susceptibility to fractures | Infantile onset | Inflammation of the large intestine | Irregular menstruation | Ketosis | Kidney stone | Lactic acidosis | Lipemia retinalis | Menorrhagia | Metabolic acidosis | Motor delay | Neonatal onset | Nephrocalcinosis | Oral ulcer | Osteopenia | Osteoporosis | Pancreatic fibrosis | Pancreatitis | Periodontitis | Polycystic ovaries | Prolonged bleeding following procedure | Proteinuria | Protuberant abdomen | Pulmonary arterial hypertension | Recurrent bacterial infections | Recurrent upper respiratory tract infections | Renal insufficiency | Round face | Short stature | Spider hemangioma | Splenomegaly | Stage 5 chronic kidney disease | Stomatitis | Thyroiditis | Tubulointerstitial fibrosis | Ulcerative colitis | Xanthelasma | Xanthomatosis" ], "symptoms_ja_list": [ "von Willebrand 因子の異常 | くも状血管腫 | ケトン症 | ステージ5慢性腎疾患 | ビタミンD欠乏症 | 下痢 | 丸い顔 | 乳酸性アシドーシス | 人形様顔貌 | 代謝性アシドーシス | 低血糖 | 低血糖性発作 | 低身長 | 全般性発達遅滞 | 処置に続く遷延性出 | 出血傾向 | 反復性上気道感染症 | 反復性細菌感染症 | 口内炎 | 口腔潰瘍 | 多嚢胞性卵巣 | 大きな頬 | 大腸の炎症 | 好中球減少症 | 小腸結腸炎 | 尿細管間質 線維症 | 巣状分節性糸球体硬化症 | 常染色体潜性遺伝 | 思春期遅発 | 慢性膵炎 | 成長遅滞 | 成長障害 (成長不全) | 易骨折性の増加 | 月経不純 | 月経痛 | 歯周炎 | 歯肉炎 | 永久歯萠出遅延 | 潰瘍性大腸炎 | 甲状腺機能低下症 | 甲状腺炎 | 異常な出血 | 糸球体濾過率減少 | 網膜脂肪血症 | 肝グリコーゲン量増加 | 肝トランスアミナーゼ上昇 | 肝細胞癌 | 肝細胞腺腫 | 肝腫 | 肝芽腫 | 肺高血圧 | 脂肪肝 | 脾腫 | 腎不全 | 腎拡大 | 腎石灰化症 | 腎結石 | 腹部突出 | 膵炎 | 膵線維症 | 蛋白尿 | 血尿 | 認知障害 | 貧血 | 貪食細胞での殺菌的酸化 '呼吸バースト' の欠損 | 通風 | 運動発達遅滞 | 骨減少症 | 骨粗鬆症 | 骨髄球系白血球の異常 | 高コレステロール血症 | 高トリグリセリド血症 | 高尿酸血症 | 高度/補酵素活性異常 | 高脂血症 | 高血圧 | 黄色板症 | 黄色腫症 | 鼻出血 | 齲歯" ] }, { "id": "NANDO:2200135", "label_en": "Other chronic glomerulonephritis", "label_ja": "8から21までに掲げるもののほか、慢性糸球体腎炎", "yomigana": "8から21までにかかげるもののほか、まんせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200135", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200878", "label_en": "West syndrome", "label_ja": "点頭てんかん", "yomigana": "てんとうてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200878", "notificationNumber": "73", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201237", "label_en": "Infantile free sialic acid storage disease", "label_ja": "乳児型遊離シアル酸蓄積症", "yomigana": "にゅうじがたゆうりしあるさんちくせきしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201237", "notificationNumber": "137", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal foot morphology | Abnormal thorax morphology | Anteverted nares | Ascites | Autosomal recessive inheritance | Cardiomegaly | Cerebral atrophy | Coarse facial features | Congestive heart failure | Conjugated hyperbilirubinemia | Death in childhood | Epicanthus | Failure to thrive | Fair hair | Generalized hypotonia | Gingival overgrowth | Global developmental delay | Hepatomegaly | High palate | Hydrocephalus | Hydrops fetalis | Hypopigmentation of the skin | Hypotonia | J-shaped sella turcica | Metaphyseal irregularity | Nephrotic syndrome | Nystagmus | Osteopenia | Premature birth | Ptosis | Seizure | Splenomegaly | Vacuolated lymphocytes" ], "symptoms_ja_list": [ "J字型トルコ鞍 | うっ血性心不全 | ネフローゼ症候群 | 上向きの鼻孔 | 全般性発達遅滞 | 全身性筋緊張低下 | 内眼角贅皮 | 大脳萎縮 | 常染色体潜性遺伝 | 心拡大 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 早産 | 歯肉過成長 | 水頭症 | 発作 | 皮膚低色素 | 眼振 | 眼瞼下垂 | 空胞化リンパ球 | 筋緊張低下 | 粗な顔貌 | 肝腫 | 胎児水腫 | 胸郭の異常 | 脾腫 | 腹水 | 足の異常 | 金髪 | 骨幹端不規則性 | 骨減少症 | 高口蓋" ] }, { "id": "NANDO:2201432", "label_en": "Spinal muscular atrophy type III", "label_ja": "脊髄性筋萎縮症III型", "yomigana": "せきずいせいきんいしゅくしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201432", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100231", "symptoms_en_list": [ "Absent Achilles reflex | Absent patellar reflexes | Autosomal recessive inheritance | Degeneration of anterior horn cells | Distal amyotrophy | EMG: chronic denervation signs | Hand tremor | Hyporeflexia | Juvenile onset | Limb fasciculations | Loss of ambulation | Lower limb muscle weakness | Muscle spasm | Pelvic girdle amyotrophy | Pelvic girdle muscle weakness | Progressive | Proximal lower limb amyotrophy | Proximal muscle weakness | Shoulder girdle muscle atrophy | Shoulder girdle muscle weakness | Spinal muscular atrophy | Tongue fasciculations" ], "symptoms_ja_list": [ "アキレス腱反射欠損 | 下肢筋虚弱 | 前角細胞変性 | 反射低下 | 四肢線維束性収縮 | 常染色体潜性遺伝 | 手振戦 | 筋けいれん | 筋電図: 慢性変性サイン | 肩帯筋筋萎縮 | 肩帯筋虚弱 | 脊髄性筋萎縮 | 膝蓋腱反射 | 舌線維束性収縮 | 近位下肢筋萎縮 | 近位筋虚弱 | 進行性歩行不安定 | 遠位筋萎縮 | 骨盤帯筋筋萎縮 | 骨盤帯筋筋虚弱" ] }, { "id": "NANDO:1201073", "label_en": "Schizencephaly", "label_ja": "裂脳症", "yomigana": "れつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201073", "notificationNumber": "138", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Agenesis of corpus callosum | Aplasia/Hypoplasia of the corpus callosum | Cerebral cortical atrophy | EEG abnormality | Global developmental delay | Hemiparesis | Intellectual disability | Porencephalic cyst | Schizencephaly | Seizure | Spastic tetraplegia | Spasticity | Strabismus" ], "symptoms_ja_list": [ "全般性発達遅滞 | 大脳皮質萎縮 | 孔脳症 | 斜視 | 片側不全麻痺 | 痙性 | 痙性四肢麻痺 | 発作 | 知的障害 | 脳梁無形成/低形成 | 脳梁無発生 of | 脳波異常 | 裂脳症" ] }, { "id": "NANDO:1200268", "label_en": "Arterial thrombosis in antiphospholipid syndrome", "label_ja": "動脈血栓症を有する抗リン脂質抗体症候群", "yomigana": "どうみゃくけっせんしょうをゆうするこうりんししつこうたいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200268", "notificationNumber": "48", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200172", "label_en": "Simple renal cyst", "label_ja": "単純性腎嚢胞", "yomigana": "たんじゅんせいじんのうほう", "url": "http://nanbyodata.jp/ontology/NANDO_2200172", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100246", "label_en": "Rasmussen's encephalitis", "label_ja": "ラスムッセン脳炎", "yomigana": "らすむっせんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100246", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200340", "label_en": "Hyper-IgE syndrome", "label_ja": "高IgE症候群", "yomigana": "こうあいじーいーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200340", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200245", "label_en": "Coronary aneurysms complicated with Kawasaki disease", "label_ja": "川崎病性冠動脈瘤", "yomigana": "かわさきびょうせいかんどうみゃくりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2200245", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100068", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200809", "label_en": "Lysinuric protein intolerance", "label_ja": "リジン尿性蛋白不耐症", "yomigana": "りじんにょうせいたんぱくふたいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200809", "notificationNumber": "252", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal bleeding | Abnormal circulating immunoglobulin concentration | Abnormal circulating serine concentration | Abnormal heart morphology | Abnormal pulmonary interstitial morphology | Abnormal renal tubule morphology | Abnormality of humoral immunity | Aminoaciduria | Anemia | Antinuclear antibody positivity | Argininuria | Autosomal recessive inheritance | Chronic kidney disease | Cirrhosis | Cognitive impairment | Coma | Cutis laxa | Decreased circulating HDL-C concentration | Decreased circulating immunoglobulin concentration | Decreased glomerular filtration rate | Decreased response to growth hormone stimulation test | Decreased total leukocyte count | Delayed skeletal maturation | Diarrhea | Elevated circulating LDL-C concentration | Elevated circulating hepatic transaminase concentration | Elevated plasma citrulline | Failure to thrive | Feeding difficulties | Fine hair | Floppy infant | Global developmental delay | Glomerulonephritis | Growth delay | Hematuria | Hemophagocytosis | Hepatic amyloidosis | Hepatic failure | Hepatomegaly | Hepatosplenomegaly | Hyperalaninemia | Hyperammonemia | Hypercholesterolemia | Hyperextensible skin | Hyperglutaminemia | Hyperglycinemia | Hyperlysinuria | Hyperprolinemia | Hypertension | Hypertriglyceridemia | Hypofibrinogenemia | Hypotonia | Increased circulating ferritin concentration | Increased circulating immunoglobulin concentration | Increased circulating lactate concentration | Increased serum zinc | Infantile onset | Intellectual disability | Intraalveolar phospholipid accumulation | Lethargy | Malnutrition | Megakaryocytopenia | Membranous nephropathy | Muscle weakness | Nausea | Nephrocalcinosis | Oral aversion | Ornithinuria | Oroticaciduria | Osteopenia | Osteoporosis | Pancreatitis | Pathologic fracture | Protein avoidance | Proteinuria | Psychotic episodes | Pulmonary fibrosis | Recurrent bacterial infections | Recurrent fractures | Reduced circulating complement concentration | Renal amyloidosis | Renal tubular acidosis | Renal tubular dysfunction | Respiratory insufficiency | Short stature | Skeletal muscle atrophy | Sparse hair | Splenomegaly | Stage 5 chronic kidney disease | Steatorrhea | Thrombocytopenia | Truncal obesity | Tubulointerstitial nephritis | Vomiting" ], "symptoms_ja_list": [ "アミノ酸尿 | アルギニン尿症 | オルニチン尿 | オロチン酸尿 | ステージ5慢性腎疾患 | セリン代謝の異常 | 下痢 | 乳児筋性筋緊張低下 | 低ガンマグロブリン血症 | 低フィブリノーゲン血症 | 低身長 | 体幹肥満 | 免疫グロブリン値異常 | 全般性発達遅滞 | 反復性細菌感染症 | 反復性骨折 | 口嫌悪 | 吐気 | 呼吸不全 | 嘔吐 | 尿細管間質性腎炎 | 巨核球減少症 | 常染色体潜性遺伝 | 弛緩性皮膚 | 心形態の異常 | 慢性腎疾患 | 成長ホルモン欠乏症 | 成長遅滞 | 成長障害 (成長不全) | 抗核抗体陽性 | 昏睡 | 栄養失調 | 液性免疫の異常 | 無気力 | 異常な出血 | 疎な毛髪 | 病的骨折 | 白血球減少症 | 知的障害 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 精神病エピソード | 糸球体濾過率減少 | 糸球体腎炎 | 細い毛髪 | 肝アミロイドーシス | 肝トランスアミナーゼ上昇 | 肝不全 | 肝硬変 | 肝脾腫 | 肝腫 | 肺線維症 | 肺胞タンパク沈着症 | 脂肪便 | 脾腫 | 腎アミロイド症 | 腎尿細管アシドーシス | 腎尿細管機能障害 | 腎尿細管異常 | 腎石灰化症 | 膜性腎症 | 膵炎 | 蛋白回避 | 蛋白尿 | 血小板減少 | 血尿 | 血液貪食症 | 血清フェリチン増加 | 血清乳酸増加 | 血清亜鉛増加 | 血漿シトルリン上昇 | 補体欠乏症 | 認知障害 | 貧血 | 過伸展皮膚 | 間質性肺疾患 | 食餌摂取障害 | 骨格骨化遅延 | 骨減少症 | 骨粗鬆症 | 高αリポ蛋白血症 | 高βリポタンパク血症 | 高アラニン血症 | 高アンモニア血症 | 高ガンマグロブリン血症 | 高グリシン血症 | 高グルタミン血症 | 高コレステロール血症 | 高トリグリセリド血症 | 高プロリン血症 | 高リジン尿 | 高血圧" ] }, { "id": "NANDO:2200620", "label_en": "Other autoimmune hemolytic anemia", "label_ja": "7及び8に掲げるもののほか、自己免疫性溶血性貧血", "yomigana": "7および8にかかげるもののほか、じこめんえきせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200620", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100181", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100256", "label_en": "obsolete Intestinal lymphangiectasia", "label_ja": "obsolete 腸リンパ管拡張症", "yomigana": "ちょうりんぱかんかくちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100256", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200814", "label_en": "Variegate porphyria", "label_ja": "異型ポルフィリン症", "yomigana": "いけいぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200814", "notificationNumber": "254", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal pain | Abnormal autonomic nervous system physiology | Abnormal blistering of the skin | Abnormal circulating enzyme concentration or activity | Abnormal circulating porphyrin concentration | Abnormality of the liver | Abnormality of the nervous system | Anemia | Anxiety | Atypical behavior | Autosomal dominant inheritance | Back pain | Chest pain | Chronic kidney disease | Coma | Constipation | Cutaneous photosensitivity | Elevated circulating hepatic transaminase concentration | Elevated urinary delta-aminolevulinic acid | Hallucinations | Hepatocellular carcinoma | Hyperpigmentation of the skin | Hyperreflexia | Hypertension | Hypertrichosis | Hyponatremia | Hypopigmentation of the skin | Hyporeflexia | Ileus | Increased urinary porphobilinogen | Localized skin lesion | Milia | Motor polyneuropathy | Muscle weakness | Nausea | Neurogenic bladder | Paralysis | Paranoia | Peripheral neuropathy | Porphyrinuria | Proximal upper limb muscle weakness | Psychosis | Respiratory paralysis | Scarring | Seizure | Skin erosion | Skin vesicle | Somatic sensory dysfunction | Tachycardia | Tetraparesis | Thickened skin | Vomiting | Young adult onset" ], "symptoms_ja_list": [ "イレウス | パラノイア | ヘム生合成経路の異常 | ポルフィリン尿 | 上肢の近位筋虚弱 | 不安 | 低ナトリウム血症 | 便秘 | 共通 | 分厚い皮膚 | 反射亢進 | 反射低下 | 吐気 | 呼吸麻痺 | 嘔吐 | 四肢不全麻痺 | 多毛症 | 尿中δ-アミノレブリン酸上昇 | 尿中ポルホビリノーゲン増加 | 常染色体顕性遺伝 | 幻覚 | 感覚障害 | 慢性腎疾患 | 昏睡 | 末梢神経ニューロパチー | 異常な皮膚水泡 | 異常な自律神経生理 | 瘢痕 | 発作 | 皮膚びらん | 皮膚低色素 | 皮膚光線過敏症 | 皮膚小水疱 | 皮膚高色素 | 神経因性膀胱 | 神経系の異常 | 稗粒腫 | 筋虚弱 | 精神病 | 肝の異常 | 肝トランスアミナーゼ上昇 | 肝細胞癌 | 背部痛 | 腹痛 | 行動異常 | 貧血 | 運動性ポリニューロパチー | 限局性皮膚病変 | 頻拍 | 高度/補酵素活性異常 | 高血圧 | 麻痺" ] }, { "id": "NANDO:2201012", "label_en": "Hypophosphatasia", "label_ja": "低ホスファターゼ症", "yomigana": "ていほすふぁたーぜしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201012", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal metaphysis morphology | Abnormal rib morphology | Abnormality of the dentition | Anemia | Bowing of the long bones | Craniosynostosis | Emphysema | Failure to thrive in infancy | Feeding difficulties in infancy | Hypercalcemia | Hypotonia | Irritability | Large fontanelles | Narrow chest | Recurrent fractures | Respiratory insufficiency | Seizure | Short stature | Skin dimple | Skin dimple over apex of long bone angulation" ], "symptoms_ja_list": [ "乳児期の成長障害 (成長不全) | 低身長 | 反復性骨折 | 呼吸不全 | 大きな泉門 | 歯の異常 | 狭い胸郭 | 発作 | 皮膚小孔 | 筋緊張低下 | 肋骨の異常 | 肺気腫 | 被刺激性 | 貧血 | 長管骨湾曲 | 長管骨角部先端上の皮膚小孔 | 頭蓋合骨症 | 食餌摂取障害 in infancy | 骨幹端の異常 | 高カルシウム血症" ] }, { "id": "NANDO:2200344", "label_en": "Parathyroid gland defect", "label_ja": "副甲状腺欠損症", "yomigana": "ふくこうじょうせんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200344", "notificationNumber": "80", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100124", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200967", "label_en": "Nail-patella syndrome", "label_ja": "ネイル・パテラ症候群", "yomigana": "ねいる・ぱてらしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200967", "notificationNumber": "315", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Abnormal digit morphology | Abnormal femur morphology | Abnormal gastrointestinal tract morphology | Abnormal iris pigmentation | Abnormal nail morphology | Abnormal patella morphology | Abnormal tibia morphology | Abnormality of the elbow | Abnormality of the eye | Abnormality of the kidney | Abnormality of the knee | Abnormality of the vasculature | Absence of pectoralis minor muscle | Absent distal interphalangeal creases | Achilles tendon contracture | Anonychia | Antecubital pterygium | Arthritis | Autosomal dominant inheritance | Back pain | Biceps aplasia | Cataract | Cleft palate | Cleft upper lip | Clinodactyly of the 5th finger | Concave nail | Constipation | Contracture of the distal interphalangeal joint of the fingers | Coronary artery dissection | Cubitus valgus | Decreased muscle mass | Dislocated radial head | Disproportionate prominence of the femoral medial condyle | Elbow flexion contracture | Elongated radius | Enamel hypoplasia | Equinovarus deformity | Fingernail dysplasia | Flexion contracture | Glaucoma | Glenoid fossa hypoplasia | Glomerulonephritis | Hematuria | High anterior hairline | High forehead | Hypoplasia of first ribs | Hypoplastic radial head | Iliac horns | Impaired pain sensation | Impaired temperature sensation | Internal carotid artery hypoplasia | Keratoconus | Knee flexion contracture | Lester's sign | Limited elbow extension | Limited pronation/supination of forearm | Lumbar hyperlordosis | Microcornea | Microphakia | Nephritis | Nephrotic syndrome | Ocular hypertension | Open angle glaucoma | Osteochondritis dissecans | Osteoporosis | Patellar aplasia | Patellar dislocation | Patellar hypoplasia | Pectus excavatum | Pes planus | Primary congenital glaucoma | Proteinuria | Proximal finger joint hyperextensibility | Ptosis | Quadriceps aplasia | Reduced bone mineral density | Renal insufficiency | Ridged nail | Scoliosis | Seizure | Sensorineural hearing impairment | Short stature | Spina bifida | Spondylolisthesis | Spondylolysis | Stage 5 chronic kidney disease | Talipes calcaneovalgus | Talipes calcaneovarus | Talipes equinovalgus | Talipes equinovarus | Thickened glomerular basement membrane | Thickening of the lateral border of the scapula | Toenail dysplasia | Triceps aplasia" ], "symptoms_ja_list": [ "Lester サイン | アキレス腱拘縮 | ステージ5慢性腎疾患 | ネフローゼ症候群 | 上口唇裂 | 上腕三頭筋無形成 | 上腕二頭筋無形成 | 不均衡な大腿骨内側顆隆起 | 二分脊椎 | 低身長 | 便秘 | 側弯 | 内反尖足 | 内反尖足変形 | 内反踵足 | 内頚動脈低形成 | 円錐角膜 | 凹爪 | 前弯回内/回外制限 | 原発性先天性緑内障 | 原発性開放隅角緑内障 | 口蓋裂 | 外反尖足 | 外反肘 | 外反踵骨 | 大腿四頭筋無形成 | 大腿骨の異常 | 小水晶体 | 小胸筋の異常 | 小角膜 | 屈曲拘縮 | 常染色体顕性遺伝 | 感音難聴 | 扁平足 | 指の遠位指間(DIP)関節拘縮 | 指爪異形成 | 指趾の異常 | 橈骨頭低形成 | 橈骨頭脱臼 | 歯エナメル質低形成 | 温度覚障害 | 漏斗胸 | 無爪症 | 爪の異常 | 痛覚障害 | 発作 | 白内障 | 眼の異常 | 眼内圧の増加 | 眼瞼下垂 | 第1肋骨低形成 | 第5指弯指 | 筋量減少 | 糸球体基底膜肥厚 | 糸球体腎炎 | 緑内障 | 肘伸展制限 | 肘前翼状片 | 肘屈曲拘縮 | 肘異常 | 肩甲骨外側肥厚 | 肩甲骨関節窩低形成 | 胃腸管の形態異常 | 背部痛 | 脊椎すべり症 | 脊椎分離症 | 脛骨の異常 | 腎不全 | 腎炎 | 腎異常 | 腰椎前弯 hyperlordosis | 腸骨角 | 膝の異常 | 膝屈曲拘縮 | 膝蓋骨の異常 | 膝蓋骨低形成 | 膝蓋骨無形成無形成 | 膝蓋骨脱臼 | 自然冠動脈解離 | 虹彩色素異常 | 蛋白尿 | 血尿 | 血管の異常 | 趾爪異形成 | 近位指関節過伸展 | 遠位指間屈曲線欠損 | 長い橈骨 | 関節炎 | 隆起した爪 | 離断性骨軟骨症 | 骨ミネラル濃度減少 | 骨粗鬆症 | 高い前部毛髪線 | 高い額" ] }, { "id": "NANDO:2200888", "label_en": "Infantile bilateral striatal necrosis", "label_ja": "乳児両側線条体壊死", "yomigana": "にゅうじりょうそくせんじょうたいえし", "url": "http://nanbyodata.jp/ontology/NANDO_2200888", "notificationNumber": "82", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100242", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100144", "label_en": "Vitamin D-dependent rickets", "label_ja": "ビタミンD依存性くる病", "yomigana": "びたみんでぃーいぞんせいくるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100144", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100013", "label_en": "Amyloid nephropathy", "label_ja": "アミロイド腎", "yomigana": "あみろいどじん", "url": "http://nanbyodata.jp/ontology/NANDO_2100013", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200199", "label_en": "Idiopathic interstitial pneumonia", "label_ja": "特発性間質性肺炎", "yomigana": "とくはつせいかんしつせいはいえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200199", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100033", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200544", "label_en": "HTRA1-Related Cerebral Small Vessel Disease", "label_ja": "HTRA1関連脳小血管病", "yomigana": "はとらわんかんれんのうしょうけっかんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200544", "notificationNumber": "123", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormality of extrapyramidal motor function | Abulia | Aggressive behavior | Akinetic mutism | Alopecia | Alopecia of scalp | Anxiety | Apathy | Aphasia | Arteriosclerosis | Arteriosclerosis of small cerebral arteries | Ataxia | Atypical behavior | Autosomal recessive inheritance | Babinski sign | Back pain | Bilateral tonic-clonic seizure | Bowel incontinence | Brain atrophy | Carotid artery stenosis | Cervical spondylosis | Cognitive impairment | Delusion | Dementia | Diffuse cerebral atrophy | Diffuse demyelination of the cerebral white matter | Diffuse white matter abnormalities | Dysarthria | Dysmetria | Emotional lability | Gait apraxia | Gait disturbance | Hallucinations | Hemiparesis | Hyperreflexia | Irritability | Juvenile onset | Kyphoscoliosis | Leukoencephalopathy | Low back pain | Lower limb pain | Mental deterioration | Middle age onset | Nystagmus | Progressive encephalopathy | Pseudobulbar paralysis | Pseudobulbar signs | Rigidity | Somatic sensory dysfunction | Spastic ataxia | Spasticity | Stroke | Stroke-like episode | Transient ischemic attack | Urinary incontinence | Vascular granular osmiophilic material deposition" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | びまん性大脳萎縮 | びまん性白質異常 | 一過性虚血発作 | 下肢痛 | 下背部痛 | 不安 | 偽性球麻痺 | 偽性球麻痺サイン | 全身性間代性強直性発作 | 動脈硬化 | 卒中 | 卒中様エピソード | 反射亢進 | 大脳白質のびまん性脱髄 | 失語症 | 妄想 | 小大脳動脈動脈硬化 | 常染色体潜性遺伝 | 幻覚 | 後側弯 | 情動不安定 | 感覚障害 | 攻撃的行動 | 構音障害 | 歩行失行 | 歩行障害 | 測定障害 | 無動性無言症 | 無為 | 無関心", "感情鈍磨 | 片側不全麻痺 | 痙性 | 痙性失調 | 白質脳症 | 眼振 | 知能悪化 | 硬直 | 禿頭 | 細胞内顆粒状オスミウム好性沈着物 (GROD) | 背部痛 | 脳萎縮 | 行動異常 | 被刺激性 | 認知障害 | 進行性脳症 | 運動失調 | 遺尿 | 遺糞症 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 頚動脈狭窄 | 頚椎症 | 頭髪禿頭" ] }, { "id": "NANDO:2200308", "label_en": "Supramitral ring", "label_ja": "僧帽弁弁上輪", "yomigana": "そうぼうべんべんじょうりん", "url": "http://nanbyodata.jp/ontology/NANDO_2200308", "notificationNumber": "55", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100106", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200536", "label_en": "Atypical pantothenate kinase-associated neurodegeneration", "label_ja": "パントテン酸キナーゼ変異に伴う神経変性症（非典型例）", "yomigana": "ぱんとてんさんきなーぜへんいにともなうしんけいへんせいしょう（ひてんけいれい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200536", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormal speech pattern | Blindness | Chorea | Clumsiness | Cognitive impairment | Compulsive behaviors | Depression | Dysarthria | Dysphagia | Emotional lability | Focal dystonia | Frequent falls | Gait disturbance | Hyperreflexia | Impulsivity | Irritability | Limb dystonia | Optic atrophy | Oromandibular dystonia | Parkinsonism | Psychosis | Retinopathy | Rigidity | Spasticity | Tongue atrophy | Tremor | Upper motor neuron dysfunction | Violent behavior" ], "symptoms_ja_list": [ "うつ | パーキンソン症候群 | 不器用 | 反射亢進 | 口下顎ジストニア | 嚥下障害 | 四肢ジストニア | 強迫性行動 | 情動不安定 | 振戦 | 暴力的行動 | 構音障害 | 歩行障害 | 焦点性ジストニア | 痙性 | 皮質脊髄路機能障害 | 盲 | 硬直 | 神経学的発語障害 | 精神病 | 網膜症 | 舌萎縮 | 舞踏病 | 衝動性 | 被刺激性 | 視神経萎縮 | 認知障害 | 錐体路運動機能の異常 | 頻回の転倒" ] }, { "id": "NANDO:2100091", "label_en": "Double-chambered right ventricle", "label_ja": "右室二腔症", "yomigana": "うしつにくうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100091", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201292", "label_en": "Allan-Herndon-Dudley syndrome", "label_ja": "アラン・ハーンドン・ダドリー症候群", "yomigana": "あらん・はーんどん・だどりーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201292", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Abnormal conjugate eye movement | Abnormal pyramidal sign | Abnormality of extrapyramidal motor function | Abnormality of thyroid physiology | Ankle clonus | Ataxia | Athetosis | Axial hypotonia | Babinski sign | Brain atrophy | Brisk reflexes | Choreoathetosis | Clonus | Congenital onset | Cryptorchidism | Decreased fetal movement | Delayed CNS myelination | Delayed myelination | Delayed speech and language development | Drooling | Dysarthria | Dyskinesia | Dystonia | Elevated circulating thyroid-stimulating hormone concentration | Failure to thrive in infancy | Feeding difficulties in infancy | Flexion contracture | Generalized amyotrophy | Generalized muscle weakness | Hallux valgus | Hyperhidrosis | Hyperreflexia | Hypertension | Hypokinesia | Hypothyroidism | Inability to walk | Increased circulating free T3 | Intellectual disability | Irritability | Kyphoscoliosis | Leukodystrophy | Limb hypertonia | Long face | Macrocephaly at birth | Macrotia | Microcephaly | Moderate intellectual disability | Myopathic facies | Narrow face | Narrow forehead | Neonatal hypotonia | Nystagmus | Pectus excavatum | Pes planus | Pes valgus | Polyhydramnios | Poor head control | Premature birth | Prolonged neonatal jaundice | Prominent antihelix | Recurrent respiratory infections | Rotary nystagmus | Scoliosis | Seizure | Severe global developmental delay | Severe intellectual disability | Short stature | Skeletal muscle atrophy | Sleep disturbance | Small for gestational age | Spastic paraplegia | Spastic tetraplegia | Spasticity | Stahl ear | Tachycardia | Underfolded superior helices | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Babinski サイン | Stahl 耳 | X連鎖潜性遺伝 | アテトーゼ | クローヌス | ジスキネジア | ジストニア | ミオパチー顔貌 | ロイコジストロフィー | 中枢神経髄鞘形成遅延 | 乳児期の成長障害 (成長不全) | 低身長 | 体幹の筋緊張低下 | 停留精巣 | 側弯 | 全身性筋萎縮 | 全身性筋虚弱 | 出生時の大頭 | 協同眼運動の異常 | 反射亢進 | 反射活発 | 反復性呼吸器感染症 | 四肢筋緊張亢進 | 回転性眼振 | 在胎月齢より小さい児 | 外反母趾 | 外反足 | 多汗 | 大耳 | 小頭 | 屈曲拘縮 | 巻き込み不足の上部耳輪 | 後側弯 | 扁平足 | 新生児筋緊張低下 | 早産 | 構音障害 | 歩行不能 | 流涎 | 漏斗胸 | 狭い額 | 狭い顔 | 甲状腺刺激ホルモン過剰症 | 甲状腺機能低下症 | 甲状腺生理異常 | 痙性 | 痙性四肢麻痺 | 痙性対麻痺 | 発作 | 発語および言語発達遅延 | 目立つ対耳輪 | 眼振 | 睡眠障害 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "重度 | 筋萎縮 | 羊水過多 | 胎動減少 | 脳萎縮 | 舞踏病アテトーゼ | 血清 free トリヨードチロニン (fT3)増加 | 被刺激性 | 足クローヌス | 運動失調 | 運動減少 | 遷延性新生児黄疸 | 重度の全般性発達遅滞 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 長い顔 | 頸定不全 | 頻拍 | 食餌摂取障害 in infancy | 髄鞘形成遅延 | 高血圧" ] }, { "id": "NANDO:1200623", "label_en": "Neutral lipid storage disease with ichthyosis", "label_ja": "中性脂肪蓄積症", "yomigana": "ちゅうせいしぼうちくせきしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200623", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal granulocyte morphology | Abnormality of blood and blood-forming tissues | Alopecia | Areflexia | Ataxia | Autosomal recessive inheritance | Cardiomyopathy | Central nervous system degeneration | Congenital nonbullous ichthyosiform erythroderma | EMG: myopathic abnormalities | Eclabion | Ectropion | Elevated circulating hepatic transaminase concentration | Everted lower lip vermilion | Gait disturbance | Global developmental delay | Hepatic steatosis | Hepatomegaly | Hypertriglyceridemia | Increased CSF protein concentration | Increased intramyocellular lipid droplets | Intellectual disability | Ketosis | Micronodular cirrhosis | Microtia | Muscle weakness | Myopathy | Nystagmus | Obesity | Progressive proximal muscle weakness | Ptosis | Sensorineural hearing impairment | Short stature | Shoulder girdle muscle weakness | Small earlobe | Strabismus | Subcapsular cataract" ], "symptoms_ja_list": [ "ケトン症 | ミオパチー | 下口唇唇紅部外反 | 中枢神経変性 | 低身長 | 先天性非水泡性魚鱗癬型紅皮症 | 全般性発達遅滞 | 口唇外反 | 嚢下白内障 | 外反(眼瞼) | 小さい耳朶 | 小結節性肝硬変 | 小耳 | 常染色体潜性遺伝 | 心筋症 | 感音難聴 | 斜視 | 歩行障害 | 無反射 | 眼振 | 眼瞼下垂 | 知的障害 | 禿頭 | 筋細胞内脂肪滴増加 | 筋虚弱 | 筋電図: ミオパチー異常 | 肝トランスアミナーゼ上昇 | 肝腫 | 肥満 | 肩帯筋虚弱 | 脂肪肝 | 血液および血液痙性組織の異常 | 進行性近位筋虚弱 | 運動失調 | 顆粒球の異常 | 髄液タンパクの増加 | 高トリグリセリド血症" ] }, { "id": "NANDO:1200280", "label_en": "Primary Sjogren's syndrome", "label_ja": "一次性シェーグレン症候群", "yomigana": "いちじせいしぇーぐれんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200280", "notificationNumber": "53", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal cerebellum morphology | Abnormal pulmonary interstitial morphology | Abnormal spinal cord morphology | Abnormality of blood and blood-forming tissues | Abnormality of the kidney | Abnormality of the musculature | Abnormality of the nervous system | Abnormality of the skin | Airway obstruction | Anxiety | Arteritis | Arthralgia | Arthritis | Atypical behavior | Autoimmunity | Autosomal recessive inheritance | Biliary cirrhosis | Bronchitis | Chorea | Chronic active hepatitis | Chronic hepatitis | Chronic pain | Cognitive impairment | Corneal perforation | Cryoglobulinemia | Cutis marmorata | Decreased circulating complement C3 concentration | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total lymphocyte count | Dementia | Depression | Dry skin | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Enlargement of parotid gland | Erythema nodosum | Fatigue | Functional motor deficit | Glomerulonephritis | Increased circulating immunoglobulin concentration | Keratoconjunctivitis sicca | Lymphadenopathy | Lymphocytic interstitial pneumonia | Lymphoma | Lymphoproliferative disorder | Meningitis | Morphological central nervous system abnormality | Muscle weakness | Myalgia | Myositis | Normochromic anemia | Normocytic anemia | Optic neuritis | Parotitis | Peripheral neuropathy | Polyarticular arthropathy | Purpura | Reduced circulating complement concentration | Renal insufficiency | Rheumatoid arthritis | Rheumatoid factor positive | Seizure | Sensorimotor neuropathy | Skin rash | Skin ulcer | Somatic sensory dysfunction | Thrombocytopenia | Thyroiditis | Tubulointerstitial nephritis | Vasculitis | Vitiligo | Xerostomia" ], "symptoms_ja_list": [ "CRP 上昇 | Dementia | うつ | リウマチ因子陽性 | リオグロブリン血症 | リンパ増殖性疾患 | リンパ性間質性肺炎 | リンパ球減少症 | リンパ節腫大 | リンパ腫 | 不安 | 中枢神経の形態異常 | 乾いた皮膚 | 乾燥性 | 低ガンマグロブリン血症 | 動脈炎 | 口内乾燥症 | 多関節関節症 | 大理石皮膚 | 小脳の異常 | 尿細管間質性腎炎 | 常染色体潜性遺伝 | 性色素性貧血 | 感覚運動ニューロパチー | 感覚障害 | 慢性活動性肝炎 | 慢性疼痛 | 慢性肝炎 | 末梢神経ニューロパチー | 機能的筋異常 | 正球性貧血 | 気管支炎 | 甲状腺炎 | 疲労 | 発作 | 白斑 | 白血球減少症 | 皮膚の異常 | 皮膚潰瘍 | 皮膚発疹 | 神経系の異常 | 筋の異常 | 筋炎 | 筋痛 | 筋虚弱 | 糸球体腎炎 | 紫斑 | 結節性紅斑 | 耳下腺拡大 | 耳下腺炎 | 胆汁性肝硬変 | 脊髄の異常 | 腎不全 | 腎異常 | 自己免疫 | 舞踏病 | 血小板減少 | 血液および血液痙性組織の異常 | 血清補体 C3減少 | 血管炎 | 行動異常 | 補体欠乏症 | 視神経炎 | 角膜穿孔 | 認知障害 | 赤沈値上昇 | 閉塞性肺疾患 | 間質性肺疾患 | 関節リウマチ | 関節炎 | 関節痛 | 髄膜炎 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2201183", "label_en": "Mucopolysaccharidosis type VII, severe neonatal form", "label_ja": "新生児型ムコ多糖症VII型", "yomigana": "しんせいじがたむこたとうしょう7がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201183", "notificationNumber": "134", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200490", "label_en": "Other disorders of amino acid metabolism", "label_ja": "1から21までに掲げるもののほか、アミノ酸代謝異常症", "yomigana": "1から21までにかかげるもののほか、あみのさんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200490", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200907", "label_en": "Entire colon Hirschsprung disease", "label_ja": "全結腸型ヒルシュスプルング病", "yomigana": "ぜんけっちょうがたひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200907", "notificationNumber": "291", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200649", "label_en": "Thrombotic thrombocytopenic purpura", "label_ja": "血栓性血小板減少性紫斑病", "yomigana": "けっせんせいけっしょうばんげんしょうせいしはんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200649", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100189", "symptoms_en_list": [ "Abdominal pain | Abnormality of the nervous system | Acute kidney injury | Arrhythmia | Coma | Confusion | Decreased serum creatinine | Diarrhea | Dyspnea | Fever | Generalized muscle weakness | Headache | Hematuria | Microangiopathic hemolytic anemia | Myocardial infarction | Proteinuria | Renal insufficiency | Reticulocytosis | Seizure | Stroke | Thrombocytopenia" ], "symptoms_ja_list": [ "下痢 | 不整脈 | 全身性筋虚弱 | 卒中 | 呼吸困難 | 微小血管症性溶血性貧血 | 心筋梗塞 | 急性腎外傷 | 昏睡 | 発作 | 発熱 | 神経系の異常 | 網状赤血球増多症 | 腎不全 | 腹痛 | 蛋白尿 | 血小板減少 | 血尿 | 血清クレアチニン減少 | 錯乱 | 頭痛" ] }, { "id": "NANDO:2200225", "label_en": "Atrial flutter", "label_ja": "心房粗動", "yomigana": "しんぼうそどう", "url": "http://nanbyodata.jp/ontology/NANDO_2200225", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100050", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200709", "label_en": "Tetralogy of Fallot", "label_ja": "ファロー四徴症", "yomigana": "ふぁろーしちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200709", "notificationNumber": "215", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal nasal morphology | Autosomal dominant inheritance | Brachydactyly | Broad forehead | Clinodactyly of the 5th finger | Cryptorchidism | Dolichocephaly | Intrauterine growth retardation | Preauricular pit | Proptosis | Tetralogy of Fallot | Thin vermilion border | Underdeveloped supraorbital ridges" ], "symptoms_ja_list": [ "Fallot 四徴症 | 停留精巣 | 子宮内成長遅滞 | 常染色体顕性遺伝 | 幅広い額 | 異常な鼻形態 | 眼球突出 | 眼窩上縁未発達 | 短指症候群 | 第5指弯指 | 耳介前小孔 | 薄い唇紅部縁 | 長頭" ] }, { "id": "NANDO:2200455", "label_en": "PLCG2-associated antibody deficiency and immune dysregulation", "label_ja": "フォスフォリパーゼCγ2関連抗体欠損免疫異常症", "yomigana": "ふぉすふぉりぱーぜしーがんま2かんれんこうたいけっそんめんえきいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200455", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Allergic rhinitis | Allergy | Angioedema | Antinuclear antibody positivity | Asthma | Autosomal dominant inheritance | Childhood onset | Dermatographic urticaria | Erythema | Hashimoto thyroiditis | Infantile onset | Pruritus | Recurrent otitis media | Recurrent sinopulmonary infections | Unusual fungal nail infection | Vitiligo" ], "symptoms_ja_list": [ "アレルギー | アレルギー性鼻炎 | 反復性中耳炎 | 反復性副鼻腔肺感染症 | 喘息 | 常染色体顕性遺伝 | 抗核抗体陽性 | 掻痒 | 描画症性蕁麻疹 | 橋本甲状腺炎 | 爪真菌症 | 白斑 | 紅斑 | 血管性浮腫" ] }, { "id": "NANDO:2201458", "label_en": "Juvenile polyposis of infancy", "label_ja": "新生児・乳児期発症型若年性ポリポーシス", "yomigana": "しんせいじ・にゅうじきはっしょうがたじゃくねんせいぽりぽーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201458", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100257", "symptoms_en_list": [ "Abdominal pain | Abnormal bleeding | Abnormal facial shape | Abnormal heart morphology | Adenomatous colonic polyposis | Anemia | Atrial septal defect | Broad phalanx of the toes | Broad thumb | Cachexia | Clubbing of fingers | Depressed nasal bridge | Diarrhea | Downslanted palpebral fissures | Frontal bossing | Gastrointestinal hemorrhage | Generalized hypotonia | Hamartomatous polyposis | Hemangioblastoma | Hemangioma | Hematochezia | High", "narrow palate | Hypertelorism | Hypoalbuminemia | Intellectual disability | Intestinal bleeding | Intussusception | Large forehead | Low-set ears | Macrocephaly | Melena | Midclavicular hypoplasia | Mild intellectual disability | Motor delay | Narrow mouth | Patent ductus arteriosus | Protein-losing enteropathy | Rectal prolapse | Refractory anemia | Short chin | Short stature | Subcutaneous lipoma" ], "symptoms_ja_list": [ "ばち指 | タンパク漏出性腸症 | 下痢 | 下血 | 両眼隔離 | 低身長 | 全身性筋緊張低下 | 前頭突出", "額突出 | 動脈管開存症 | 大きな額 | 大頭 | 幅広い母指 | 幅広い趾骨 | 心形態の異常 | 心房中隔欠損 | 悪液質 (カヘキシー) | 狭い口 | 異常な出血 | 異常な顔の形 | 皮下脂肪腫 | 直腸逸脱 | 眼瞼裂斜下 | 知的障害 | 知的障害", "軽度 | 短い下顎 | 耳介低位 | 胃腸出血 | 腸出血 | 腸重積 | 腹痛 | 腺腫性結腸ポリープ症 | 落ちくぼんだ鼻梁 | 血便排泄 | 血管腫 | 血管芽腫 | 貧血 | 運動発達遅滞 | 過誤腫ポリープ | 鎖骨中部低形成 | 難治性貧血 | 高アルブミン血症 | 高狭口蓋" ] }, { "id": "NANDO:1200668", "label_en": "Pfeiffer syndrome", "label_ja": "ファイファー症候群", "yomigana": "ふぁいふぁーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200668", "notificationNumber": "183", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [ "Autosomal dominant inheritance | Brachydactyly | Brachyturricephaly | Broad hallux | Broad thumb | Bronchomalacia | Chiari malformation | Choanal atresia | Choanal stenosis | Clinodactyly of the 5th finger | Cloverleaf skull | Coronal craniosynostosis | Dental crowding | Depressed nasal bridge | Downslanted palpebral fissures | Elbow ankylosis | Facial asymmetry | Finger syndactyly | Flat face | High forehead | High palate | Hip dysplasia | Humeroradial synostosis | Hydrocephalus | Hyperlordosis | Hypertelorism | Hypoplasia of the maxilla | Hypoplasia of the zygomatic bone | Intellectual disability | Mandibular prognathia | Open mouth | Ptosis | Shallow orbits | Short middle phalanx of toe | Short neck | Short nose | Short philtrum | Short stature | Shortening of all middle phalanges of the fingers | Strabismus | Syndactyly | Synostosis of carpal bones | Tracheal cartilaginous sleeve | Turricephaly | Wide nasal bridge | obsolete Symphalangism affecting the phalanges of the hand" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | クローバー型頭蓋骨 | 上腕骨橈骨癒合 | 上顎低形成 | 下顎突出 | 両眼隔離 | 低身長 | 冠状縫合早期癒合 | 前弯 | 合指症 | 合指趾症 | 塔状頭 | 常染色体顕性遺伝 | 幅広い母指 | 幅広い母趾 | 幅広い鼻梁 | 平坦な顔 | 後鼻孔狭窄 | 後鼻孔閉鎖 | 手根骨癒合症 | 指の全中節骨の短縮 | 指骨の指関節癒合症 | 斜視 | 歯混雑 | 気管支軟化症 | 水頭症 | 浅い眼窩 | 眼瞼下垂 | 眼瞼裂斜下 | 知的障害 | 短い人中 | 短い趾中節骨 | 短い頸部 | 短い鼻 | 短塔状頭 | 短指症候群 | 第5指弯指 | 肘強直 | 股関節異形成 | 落ちくぼんだ鼻梁 | 軟骨性気管 | 開口 | 頬骨未発達 | 顔面非対称 | 高い額 | 高口蓋" ] }, { "id": "NANDO:1200160", "label_en": "Heterozygous Fabry disease", "label_ja": "ファブリー病顕性ヘテロ接合体", "yomigana": "ふぁぶりーびょうけんせいへてろせつごうたい", "url": "http://nanbyodata.jp/ontology/NANDO_1200160", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200939", "label_en": "Congenital absence of portal vein", "label_ja": "先天性門脈欠損症", "yomigana": "せんてんせいもんみゃくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200939", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100269", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200276", "label_en": "Polymyositis", "label_ja": "多発性筋炎", "yomigana": "たはつせいきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200276", "notificationNumber": "50", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal atrioventricular conduction | Abnormal mitral valve morphology | Abnormal muscle fiber morphology | Abnormal pulmonary interstitial morphology | Abnormal renal tubule morphology | Abnormality of the voice | Anorexia | Antinuclear antibody positivity | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Camptocormia | Chondrocalcinosis | Congestive heart failure | Constipation | Cough | Dilated cardiomyopathy | Diminished deep tendon reflex | Dysphonia | EMG abnormality | Elevated circulating aldolase concentration | Elevated circulating creatine kinase activity | Elevated erythrocyte sedimentation rate | Exertional dyspnea | Fatigue | Fever | Gait disturbance | Gastroesophageal reflux | Gastrointestinal hemorrhage | Hepatomegaly | Hypernasal speech | Hypertrophic cardiomyopathy | Hypotonia | Increased total lymphocyte count | Myalgia | Myocardial infarction | Neuromuscular dysphagia | Pericarditis | Proximal muscle weakness | Pulmonary fibrosis | Respiratory insufficiency | Skin rash | Thrombocytosis | Vasculitis | Venous thrombosis | Weight loss" ], "symptoms_ja_list": [ "うっ血性心不全 | アルドラーゼ値上昇 | リンパ球増多症 | 不整脈 | 体重喪失 | 便秘 | 僧帽弁の異常 | 前屈症 | 呼吸不全 | 声の異常 | 外層 | 心外膜炎 | 心筋梗塞 | 抗核抗体陽性 | 拡張型心筋症 | 歩行障害 | 異常な房室電動 | 疲労 | 発熱 | 発音障害 | 皮膚発疹 | 神経筋性嚥下障害 | 筋痛 | 筋緊張低下 | 筋線維の異常 | 筋電図異常 | 肝腫 | 肥大型心筋症 | 肺線維症 | 胃腸出血 | 胃食道逆流 | 腎尿細管異常 | 腱反射減少 | 腹痛 | 自己免疫 | 血小板増多症 | 血清 creatine phosphokinase上昇 | 血管炎 | 赤沈値上昇 | 軟骨石灰化症 | 近位筋虚弱 | 運動性呼吸困難 | 間質性肺疾患 | 関節炎 | 関節痛 | 静脈血栓症 | 食思不振 | 鼻声発語" ] }, { "id": "NANDO:2200291", "label_en": "Vascular sling", "label_ja": "左肺動脈右肺動脈起始症", "yomigana": "ひだりはいどうみゃくみぎはいどうみゃくきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200291", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100100", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200662", "label_en": "Familial platelet disorder with propensity to myeloid.", "label_ja": "骨髄悪性腫瘍傾向を伴う家族性血小板減少症", "yomigana": "こつずいあくせいしゅようけいこうをともなうかぞくせいけっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200662", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [ "Abnormal alpha granule content | Abnormal dense granule content | Abnormal platelet shape | Acute monocytic leukemia | Acute myeloid leukemia | Autosomal dominant inheritance | Bruising susceptibility | Childhood onset | Epistaxis | Impaired ADP-induced platelet aggregation | Impaired arachidonic acid-induced platelet aggregation | Impaired collagen-induced platelet aggregation | Impaired platelet aggregation | Lymphoma | Myelodysplasia | Neuroblastoma | Petechiae | Prolonged bleeding time | Purpura | Thrombocytopenia" ], "symptoms_ja_list": [ "ADP-誘発性血小板凝集障害 | α顆粒内容の異常 | アラキドン酸誘発性血小板凝集障害 | コラーゲン誘発性血小板凝集障害 | リンパ腫 | 出血傾向 | 常染色体顕性遺伝 | 急性単球性白血病 | 急性骨髄性白血病 | 点状出血 | 神経芽腫 | 紫斑 | 血小板凝集障害 | 血小板形の異常 | 血小板減少 | 遷出血時間遷延 | 骨髄異形成 | 高密度顆粒内容の異常 | 鼻出血" ] }, { "id": "NANDO:2200240", "label_en": "Congenital defect of the pericardium", "label_ja": "先天性心膜欠損症", "yomigana": "せんてんせいしんまくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200240", "notificationNumber": "53", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100065", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200241", "label_en": "Idiopathic rupture of chordae tendineae of the mitral valve in infants", "label_ja": "乳児特発性僧帽弁腱索断裂", "yomigana": "にゅうじとくはつせいそうぼうべんけんさくだんれつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200241", "notificationNumber": "76", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100066", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100166", "label_en": "Peroxisomal disorder", "label_ja": "ペルオキシソーム病", "yomigana": "ぺるおきしそーむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100166", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200993", "label_en": "Hereditary autoinflammatory syndrome", "label_ja": "遺伝性自己炎症疾患", "yomigana": "いでんせいじこえんしょうしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200993", "notificationNumber": "325", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200841", "label_en": "Inherited glycosylphosphatidylinositol deficiency", "label_ja": "先天性グリコシルホスファチジルイノシトール欠損症", "yomigana": "せんてんせいぐりこしるほすふぁちじるいのしとーるけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200841", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100301", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200518", "label_en": "Dystonia 7", "label_ja": "DYT7ジストニア", "yomigana": "でぃーわいてぃー7じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200518", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal dominant inheritance | Blepharospasm | Clumsiness | Dysphonia | Hand tremor | Oromandibular dystonia | Skeletal muscle hypertrophy | Torsion dystonia | Torticollis | Writer's cramp" ], "symptoms_ja_list": [ "不器用 | 口下顎ジストニア | 常染色体顕性遺伝 | 手振戦 | 捻転ジストニア | 斜頚 | 書痙 | 発音障害 | 眼瞼スパスム | 筋肥大" ] }, { "id": "NANDO:1200382", "label_en": "obsolete Idiopathic hypogonadotropic hypogonadism", "label_ja": "obsolete 特発性ゴナドトロピン分泌低下症", "yomigana": "とくはつせいごなどとろぴんぶんぴつていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200382", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201436", "label_en": "Progressive familial intrahepatic cholestasis type 1", "label_ja": "進行性家族性肝内胆汁うっ滞症1型", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201436", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [ "Autosomal recessive inheritance | Cholelithiasis | Cirrhosis | Conjugated hyperbilirubinemia | Diarrhea | Epistaxis | Failure to thrive | Fat malabsorption | Hepatomegaly | Infantile onset | Intrahepatic cholestasis with episodic jaundice | Jaundice | Juvenile onset | Osteopenia | Pruritus | Rickets | Short stature | Splenomegaly" ], "symptoms_ja_list": [ "くる病 | 下痢 | 低身長 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 掻痒 | 肝硬変 | 肝腫 | 胆石症 | 脂肪吸収不全 | 脾腫 | 骨減少症 | 黄疸 | 黄疸エピソードを伴う肝内胆汁うっ滞 | 鼻出血" ] }, { "id": "NANDO:2100035", "label_en": "Cystic fibrosis", "label_ja": "嚢胞性線維症", "yomigana": "のうほうせいせんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100035", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200145", "label_en": "Gitelman syndrome", "label_ja": "ギッテルマン症候群", "yomigana": "ぎってるまんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200145", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100020", "symptoms_en_list": [ "Abdominal pain | Abnormal T-wave | Arthralgia | Ataxia | Autosomal recessive inheritance | Blurred vision | Cerebral calcification | Chondrocalcinosis | Constipation | Decreased urinary potassium | Delayed puberty | Diabetic ketoacidosis | Diarrhea | Enuresis | Excessive daytime somnolence | Failure to thrive | Fatigue | Focal segmental glomerulosclerosis | Focal-onset seizure | Generalized muscle weakness | Glucose intolerance | Gout | Graves disease | Growth delay | Hashimoto thyroiditis | Headache | Hyperhidrosis | Hypermagnesemia | Hypocalcemia | Hypocalciuria | Hypokalemia | Hypokalemic alkalosis | Hypomagnesemia | Hypotension | Increased circulating renin concentration | Insomnia | Insulin resistance | Iron deficiency anemia | Juvenile onset | Low-to-normal blood pressure | Maternal diabetes | Metabolic alkalosis | Mitochondrial encephalopathy | Muscle spasm | Muscle weakness | Myalgia | Nausea and vomiting | Neoplasm of the pancreas | Nocturia | Palpitations | Paralysis | Parathyroid adenoma | Paresthesia | Pericardial effusion | Polydipsia | Polyuria | Primary hyperaldosteronism | Prolonged PR interval | Prolonged QT interval | Proteinuria | Recurrent fever | Renal Fanconi syndrome | Renal magnesium wasting | Renal potassium wasting | Renal tubular acidosis | Respiratory distress | Rhabdomyolysis | ST segment depression | Scleroderma | Seizure | Syncope | Tetany | Tinnitus | Tubulointerstitial nephritis | Type I diabetes mellitus | Type II diabetes mellitus | Urinary incontinence | Varicose veins | Ventricular fibrillation | Ventricular tachycardia | Vertigo | Vomiting" ], "symptoms_ja_list": [ "Graves 病 | I 型糖尿病 | II 型糖尿病 | ST 部分低下 | インスリン抵抗性 | テタニー | ミトコンドリア脳症 | 下痢 | 不眠 | 代謝性アルカローシス | 低?正常血圧 | 低カリウム血症 | 低カリウム血症性アルカロージス | 低カルシウム尿 | 低カルシウム血症 | 低マグネシウム血症 | 低血圧 | 便秘 | 全身性筋虚弱 | 副甲状腺腺腫 | 動悸 | 原発性高アルドステロン症 | 吐気と 嘔吐 | 呼吸窮迫 | 嗜眠 | 嘔吐 | 多尿 | 多汗 | 多飲 | 夜尿 | 大脳石灰化 | 失心 | 尿中カリウム減少 | 尿細管間質性腎炎 | 巣状分節性糸球体硬化症 | 常染色体潜性遺伝 | 強皮症 | 循環性レニン値増加 | 心外膜滲出液 | 心室性 頻拍 | 心室細動 | 心電図: T-波異常 | 思春期遅発 | 感覚異常 | 成長遅滞 | 成長障害 (成長不全) | 横紋筋融解 | 橋本甲状腺炎 | 母体糖尿病 | 焦点性発作 | 疲労 | 発作 | 発熱エピソード | 眩暈 | 筋けいれん | 筋痛 | 筋虚弱 | 糖尿病性ケトアシドーシス | 耐糖能異常 | 耳鳴 | 腎尿細管アシドーシス | 腎性 Fanconi 症候群 | 腎性カリウム喪失 | 腎性マグネシウム喪失 | 腹痛 | 膵新生物 | 蛋白尿 | 視力障害(霧視、かすみ目) | 軟骨石灰化症 | 通風 | 運動失調 | 遷延性 PR 間隔 | 遷延性 QT 間隔 | 遺尿 | 鉄欠乏症貧血 | 関節痛 | 静脈瘤 | 頭痛 | 高マグネシウム血症 | 麻痺" ] }, { "id": "NANDO:1200246", "label_en": "Toxic epidermal necrolysis", "label_ja": "中毒性表皮壊死症", "yomigana": "ちゅうどくせいひょうひえししょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200246", "notificationNumber": "39", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abdominal distention | Abnormal blistering of the skin | Abnormal penis morphology | Abnormality of the anus | Abnormality of the larynx | Abnormality of the pharynx | Acantholysis | Acute kidney injury | Anemia | Anonychia | Anorexia | Anterior uveitis | Anxiety | Atypical scarring of skin | Blindness | Chemosis | Chronic lung disease | Conjunctivitis | Corneal erosion | Cough | Decreased total neutrophil count | Depression | Diarrhea | Dysuria | Elevated circulating hepatic transaminase concentration | Fatigue | Fever | Gastrointestinal inflammation | Generalized abnormality of skin | Headache | Hematuria | Hyperpigmentation of the skin | Hypopigmentation of the skin | Inflammatory abnormality of the skin | Keratitis | Keratoconjunctivitis sicca | Moderate albuminuria | Myalgia | Nail dystrophy | Oral mucosal blisters | Oral synechia | Oral-pharyngeal dysphagia | Photophobia | Pneumonia | Renal tubular epithelial necrosis | Respiratory distress | Respiratory failure requiring assisted ventilation | Rhinitis | Sepsis | Skin rash | Skin ulcer | Trichiasis | Visual loss | Xerostomia" ], "symptoms_ja_list": [ "うつ | 下痢 | 不安 | 乾燥性 | 全身性皮膚異常 | 前部ブドウ膜炎 | 口内乾燥症 | 口腔咽頭嚥下障害 | 口腔癒着 | 口腔粘膜水泡 | 呼吸窮迫 | 咽頭の異常 | 喉頭の異常 | 外層 | 好中球減少症 | 微量アルブミン尿 | 急性尿細管壊死 | 急性腎外傷 | 慢性肺疾患 | 排尿障害 | 敗血症 | 有棘細胞解離 | 無爪症 | 爪ジストロフィー | 異常な皮膚水泡 | 疲労 | 発熱 | 皮膚の炎症性異常 | 皮膚低色素 | 皮膚潰瘍 | 皮膚発疹 | 皮膚高色素 | 盲 | 睫毛乱生 | 筋痛 | 結膜浮腫 | 結膜炎 | 羞明 | 肛門の異常 | 肝トランスアミナーゼ上昇 | 肺炎 | 胃腸炎症 | 腹部膨満 | 血尿 | 補助換気が必要な呼吸不全 | 視力喪失 | 角膜びらん | 角膜炎 | 貧血 | 陰茎異常 | 非典型的皮膚瘢痕 | 頭痛 | 食思不振 | 鼻炎" ] }, { "id": "NANDO:1201066", "label_en": "Non-Herlitz junctional epidermolysis bullosa", "label_ja": "接合部型表皮水疱症（非ヘルリッツ型）", "yomigana": "せつごうぶがたひょうひすいほうしょう（ひへるりっつがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1201066", "notificationNumber": "36", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Autosomal recessive inheritance | Camptodactyly of finger | Carious teeth | Congenital onset | Enamel hypoplasia | Fragile nails | Hypodontia | Nail dystrophy | Oral mucosal blisters | Palmar hyperhidrosis | Patchy alopecia | Plantar hyperkeratosis" ], "symptoms_ja_list": [ "口腔粘膜水泡 | 屈指 | 常染色体潜性遺伝 | 手掌多汗症 | 斑状禿頭 | 歯エナメル質低形成 | 減歯症 | 爪ジストロフィー | 異常な皮膚水泡 | 脆い爪 nails | 足底過角化症 | 齲歯" ] }, { "id": "NANDO:2200553", "label_en": "Fucosidosis", "label_ja": "フコシドーシス", "yomigana": "ふこしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200553", "notificationNumber": "125", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal facial shape | Abnormal nail morphology | Abnormal pyramidal sign | Abnormality of skull size | Abnormality of the cardiovascular system | Abnormality of the dentition | Abnormality of the gallbladder | Absent/hypoplastic coccyx | Absent/hypoplastic paranasal sinuses | Acrocyanosis | Angiokeratoma | Anhidrosis | Anterior beaking of lumbar vertebrae | Anterior beaking of thoracic vertebrae | Autosomal recessive inheritance | Barrel-shaped chest | Beaking of vertebral bodies | Brachycephaly | Brisk reflexes | Bruising susceptibility | CNS hypomyelination | Cardiomegaly | Cerebral atrophy | Cervical platyspondyly | Cherry red spot of the macula | Coarse facial features | Corneal opacity | Coxa valga | Decreased muscle mass | Delayed gross motor development | Depressed nasal bridge | Developmental regression | Dry skin | Dysostosis multiplex | Dystonia | Elevated sweat chloride | Failure to thrive | Flexion contracture | Frontal bossing | Generalized amyotrophy | Generalized hyperkeratosis | Global developmental delay | Glycopeptiduria | Hearing impairment | Hemiplegia | Hepatomegaly | Hernia | Hyperhidrosis | Hypertelorism | Hypothyroidism | Hypotonia | Infantile onset | Intellectual disability | Kyphosis | Lipoatrophy | Low-set ears | Lumbar hyperlordosis | Macroglossia | Mental deterioration | Mucopolysacchariduria | Muscle weakness | Oligosacchariduria | Ovoid vertebral bodies | Petechiae | Polyneuropathy | Prominent forehead | Recurrent respiratory infections | Scoliosis | Seizure | Severe intellectual disability | Shield chest | Short stature | Spastic gait | Spastic tetraplegia | Spasticity | Splenomegaly | Thick eyebrow | Thick lower lip vermilion | Tortuosity of conjunctival vessels | Vacuolated lymphocytes | Vascular skin abnormality | Wide nose" ], "symptoms_ja_list": [ "くちばし状椎体骨 | オリゴ糖尿 | ジストニア | ヘルニア | ポリニューロパチー | ムコ多糖症 | 両眼隔離 | 中枢神経髄鞘形成低下 | 乾いた皮膚 | 低身長 | 側弯 | 全般性発達遅滞 | 全身性筋萎縮 | 全身性過角化症 | 出血傾向 | 分厚い下口唇唇紅部 | 分厚い眉毛 | 前頭突出", "額突出 | 副鼻腔欠損/低形成 | 卵形椎体骨 | 反射活発 | 反復性呼吸器感染症 | 外反股 | 多汗 | 多発性異骨症 | 大脳萎縮 | 尾骨欠損/低形成 | 屈曲拘縮 | 巨舌 | 常染色体潜性遺伝 | 幅広い鼻 | 後弯 | 心拡大 | 心血管系 | 成長障害 (成長不全) | 樽状胸 | 歯の異常 | 汗中クロール上昇 | 点状出血 | 無汗症 | 爪の異常 | 片麻痺 | 甲状腺機能低下症 | 異常な顔の形 | 痙性 | 痙性四肢麻痺 | 痙性歩行 | 発作 | 発達退行 | 目立つ額 | 盾状胸 | 知的障害 | 知的障害", "重度 | 知能悪化 | 短頭 | 空胞化リンパ球 | 筋緊張低下 | 筋虚弱 | 筋量減少 | 粗な顔貌 | 粗大運動発達遅延 | 糖ペプチド尿 | 結膜血管蛇行 | 耳介低位 | 肝腫 | 肢端チアノーゼ | 胆嚢の異常 | 胸椎のくちばし状前方突出 | 脂肪萎縮 | 脾腫 | 腰椎のくちばし状前方突出 | 腰椎前弯 hyperlordosis | 落ちくぼんだ鼻梁 | 血管皮膚異常 | 被角血管腫 | 角膜混濁 | 錐体路運動機能の異常 | 難聴 | 頚椎扁平脊椎 | 頭蓋骨サイズの異常 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2201491", "label_en": "Syringomyelia associated with type I Chiari malformation", "label_ja": "キアリ奇形1型を伴う脊髄空洞症", "yomigana": "きありきけい1がたをともなうせきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201491", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200858", "label_en": "Limb-girdle muscular dystrophy", "label_ja": "肢帯型筋ジストロフィー", "yomigana": "したいがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200858", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100184", "label_en": "Hemolytic anemia due to hypersplenism", "label_ja": "溶血性貧血（脾機能亢進症によるものに限る。）", "yomigana": "ようけつせいひんけつ（ひきのうこうしんしょうによるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2100184", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201476", "label_en": "Classical Hodgkin's lymphoma", "label_ja": "古典的ホジキンリンパ腫", "yomigana": "こてんてきほじきんりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2201476", "notificationNumber": "89", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [ "Anemia | Anorexia | Ataxia | Autosomal recessive inheritance | Back pain | Bone marrow hypocellularity | Bone pain | Cellular immunodeficiency | Chest pain | Cough | Decreased total lymphocyte count | Elevated circulating C-reactive protein concentration | Fatigue | Fever | Hemoptysis | Hepatomegaly | Hodgkin lymphoma | Hyperhidrosis | Increased total eosinophil count | Increased total leukocyte count | Lymphadenopathy | Lymphoma | Migraine | Neoplasm | Osteolysis | Peripheral neuropathy | Polyclonal elevation of circulating IgM concentration | Poor appetite | Pruritus | Respiratory insufficiency | Skin rash | Splenomegaly | Weight loss | obsolete Impaired lymphocyte transformation with phytohemagglutinin" ], "symptoms_ja_list": [ "CRP 上昇 | Hodgkin リンパ腫 | PHによるリンパ球変態障害 | ポリクローナル IgM 上昇 | リンパ球減少症 | リンパ節腫大 | リンパ腫 | 体重喪失 | 偏頭痛 | 共通 | 呼吸不全 | 喀血 | 外層 | 多汗 | 好酸球増多症 | 常染色体潜性遺伝 | 掻痒 | 新生物 | 末梢神経ニューロパチー | 疲労 | 発熱 | 白血球増多症 | 皮膚発疹 | 細胞免疫不全 | 肝腫 | 背部痛 | 脾腫 | 貧血 | 運動失調 | 食思不振 | 骨痛 | 骨融解 | 骨髄細胞数増多" ] }, { "id": "NANDO:2200825", "label_en": "Rett syndrome", "label_ja": "レット症候群", "yomigana": "れっとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200825", "notificationNumber": "105", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100219", "symptoms_en_list": [ "Abnormal T-wave | Abnormal autonomic nervous system physiology | Abnormal muscle tone | Abnormal pattern of respiration | Abnormality of the dentition | Absent speech | Agitation | Apnea | Autistic behavior | Bradykinesia | Bruxism | Cachexia | Cerebral cortical atrophy | Childhood onset | Cholecystitis | Constipation | Developmental regression | Dystonia | EEG abnormality | Failure to thrive | Floppy infant | Gait apraxia | Gait ataxia | Gait disturbance | Gastroesophageal reflux | Global developmental delay | Growth delay | Hyperammonemia | Inability to walk | Increased CSF lactate | Increased circulating lactate concentration | Increased circulating pyruvate concentration | Intermittent hyperventilation | Kyphosis | Motor deterioration | Motor stereotypy | Primary microcephaly | Profound intellectual disability | Progressive language deterioration | Progressive microcephaly | Prolonged QTc interval | Scoliosis | Secondary microcephaly | Seizure | Short foot | Short stature | Skeletal muscle atrophy | Sleep disturbance | Spasticity | Stereotypical hand wringing | Truncal ataxia | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | ジストニア | 不穏 | 乳児筋性筋緊張低下 | 低身長 | 体幹失調 | 便秘 | 側弯 | 先天性小頭 | 全般性発達遅滞 | 呼吸パターンの異常 | 大脳皮質萎縮 | 常同的手絞り動作 | 常同行動 | 後弯 | 心電図: T-波異常 | 悪液質 (カヘキシー) | 成長遅滞 | 成長障害 (成長不全) | 歩行不能 | 歩行失行 | 歩行失調 | 歩行障害 | 歯ぎしり | 歯の異常 | 無呼吸 | 生後の小頭 | 異常な筋緊張 | 異常な自律神経生理 | 痙性 | 発作 | 発語欠損 | 発達退行 | 睡眠障害 | 知的障害", "最重度 | 短い足 | 筋萎縮 | 胃食道逆流 | 胆嚢炎 | 脳波異常 | 自閉性行動 | 血清ピルビン酸増加 | 血清乳酸増加 | 進行性小頭 | 進行性言語悪化 | 運動発達悪化 | 運動緩徐 | 遷延性 QTc 間隔 | 間歇的過換気 | 髄液乳酸増加 | 高アンモニア血症" ] }, { "id": "NANDO:2200211", "label_en": "Congenital cystic lung disease", "label_ja": "先天性嚢胞性肺疾患", "yomigana": "せんてんせいのうほうせいはいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200211", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100041", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200054", "label_en": "Primitive neuroectodermal tumors", "label_ja": "未分化神経外胚葉性腫瘍（末梢性のものに限る。）", "yomigana": "みぶんかしんけいがいはいようせいしゅよう（まっしょうせいのものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200054", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abdominal distention | Abnormal bleeding | Abnormal scalp morphology | Abnormal superior cerebellar peduncle morphology | Abnormal thoracic spine morphology | Anemia | Anorexia | Ascites | Back pain | Elevated circulating alpha-fetoprotein concentration | Episodic abdominal pain | Headache | Hyporeflexia | Jaundice | Lower limb muscle weakness | Metrorrhagia | Nausea and vomiting | Neoplasm of the pancreas | Neoplasm of the scrotum | Ovarian neoplasm | Pancreatitis | Precocious puberty | Proptosis | Pruritus | Seizure | Somatic sensory dysfunction | Spinal cord tumor | Torticollis | Upper limb pain | Uterine neoplasm | Vertigo | Weight loss" ], "symptoms_ja_list": [ "α-フェトプロテイン上昇 | 上小脳脚の異常 | 上肢痛 | 下肢筋虚弱 | 不正子宮出血 | 体重喪失 | 卵巣新生物 | 反射低下 | 吐気と 嘔吐 | 子宮新生物 | 思春期早発 | 感覚障害 | 掻痒 | 斜頚 | 異常な出血 | 発作 | 眩暈 | 眼球突出 | 背部痛 | 胸椎の異常 | 脊髄腫瘍 | 腹水 | 腹痛エピソード | 腹部膨満 | 膵新生物 | 膵炎 | 貧血 | 陰嚢新生物 | 頭痛 | 頭皮の異常 | 食思不振 | 黄疸" ] }, { "id": "NANDO:1200749", "label_en": "Secondary Pulmonary Alveolar Proteinosis", "label_ja": "続発性肺胞蛋白症", "yomigana": "ぞくはつせいはいほうたんぱくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200749", "notificationNumber": "229", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200423", "label_en": "Takayasu arteritis", "label_ja": "高安動脈炎", "yomigana": "たかやすどうみゃくえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200423", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100153", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal endocardium morphology | Abnormal heart valve morphology | Abnormal speech pattern | Amaurosis fugax | Anemia | Anorexia | Aortic regurgitation | Arterial stenosis | Arteritis | Arthralgia | Arthritis | Ascending tubular aorta aneurysm | Autosomal recessive inheritance | Cerebral ischemia | Chest pain | Congestive heart failure | Dilated cardiomyopathy | Dyspnea | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Erythema nodosum | Fatigue | Fever | Gangrene | Gastrointestinal infarctions | Headache | Hemoptysis | Hypertension | Hypertensive crisis | Increased inflammatory response | Intermittent claudication | Migraine | Muscle weakness | Myalgia | Myocardial infarction | Pulmonary arterial hypertension | Reduced consciousness | Renal artery stenosis | Retinopathy | Seizure | Skin ulcer | Stroke | Transient ischemic attack | Vascular dilatation | Vasculitis | Vertigo | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | うっ血性心不全 | 一過性虚血発作 | 一過性黒内障 | 上行大動脈拡張 | 体重喪失 | 偏頭痛 | 共通 | 動脈炎 | 動脈狭窄 | 動脈瘤 | 卒中 | 呼吸困難 | 喀血 | 壊疽 | 大動脈弁の異常 | 大動脈逆流 | 大脳虚血 | 常染色体潜性遺伝 | 心内膜の異常 | 心弁の異常 | 心筋梗塞 | 意識減少/混乱 | 拡張型心筋症 | 炎症反応増加 | 疲労 | 発作 | 発熱 | 皮膚潰瘍 | 眩暈 | 神経学的発語障害 | 筋痛 | 筋虚弱 | 結節性紅斑 | 網膜症 | 肺高血圧 | 胃腸梗塞 | 腎動脈狭窄 | 血管炎 | 視力障害 | 貧血 | 赤沈値上昇 | 間歇的跛行 | 関節炎 | 関節痛 | 頭痛 | 食思不振 | 高血圧 | 高血圧クライシス" ] }, { "id": "NANDO:1200059", "label_en": "Gaucher disease type 3", "label_ja": "ゴーシェ病3型", "yomigana": "ごーしぇびょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200059", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal heart valve morphology | Abnormal myocardium morphology | Abnormal pulmonary interstitial morphology | Abnormal speech pattern | Abnormality of the dentition | Adult onset | Anemia | Anodontia | Aortic valve calcification | Ataxia | Autosomal recessive inheritance | Avascular necrosis | Bone pain | Calcification of the aorta | Childhood onset | Decreased beta-glucocerebrosidase level | Decreased body weight | Delayed puberty | Delayed skeletal maturation | Dementia | Depression | Encephalopathy | Fatigue | Gait disturbance | Generalized myoclonic seizure | Growth delay | Hematuria | Hepatomegaly | Horizontal supranuclear gaze palsy | Hydrops fetalis | Increased bone mineral density | Increased circulating immunoglobulin concentration | Increased susceptibility to fractures | Mitral valve calcification | Motor delay | Myoclonus | Ophthalmoplegia | Osteolysis | Osteopenia | Pancytopenia | Pericardial effusion | Progressive neurologic deterioration | Proteinuria | Pulmonary arterial hypertension | Recurrent respiratory infections | Seizure | Short stature | Slowed horizontal saccades | Spastic paraparesis | Splenomegaly | Strabismus | Thrombocytopenia | Vascular calcification" ], "symptoms_ja_list": [ "Dementia | β-グルコセレブロシダーゼタンパクと活性の減少 | うつ | ミオクローヌス | 低身長 | 体重減少 | 僧帽弁石灰化 | 全身性ミオクローヌス発作 | 反復性呼吸器感染症 | 大動脈弁石灰化 | 大動脈石灰化 | 常染色体潜性遺伝 | 心外膜滲出液 | 心弁の異常 | 心筋の異常 | 思春期遅発 | 成長遅滞 | 斜視 | 易骨折性の増加 | 歩行障害 | 歯の異常 | 水平性核上注視 麻痺 | 汎血球減少症 | 無歯 | 無菌性壊死 | 疲労 | 痙性対不全麻痺 | 発作 | 眼筋麻痺 | 神経学的発語障害 | 緩徐な水平サッカード | 肝腫 | 肺高血圧 | 胎児水腫 | 脳症 | 脾腫 | 蛋白尿 | 血小板減少 | 血尿 | 血管石灰化 | 貧血 | 進行性神経学的悪化 | 運動失調 | 運動発達遅滞 | 間質性肺疾患 | 骨ミネラル濃度の増加 | 骨格骨化遅延 | 骨減少症 | 骨痛 | 骨融解 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2201487", "label_en": "STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy", "label_ja": "乳児発症ＳＴＩＮＧ関連血管炎", "yomigana": "にゅうじはっしょう すてぃんぐ かんれんけっかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2201487", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Anemia | Antinuclear antibody positivity | Antiphospholipid antibody positivity | Arthralgia | Autosomal dominant inheritance | Cutis marmorata | Decreased total leukocyte count | Decreased total lymphocyte count | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Erythema | Failure to thrive | Follicular hyperplasia | Increased circulating IgA concentration | Increased circulating IgG concentration | Infantile onset | Joint stiffness | Myositis | Nail dystrophy | Neonatal onset | Pulmonary fibrosis | Pustule | Recurrent fever | Recurrent infections | Recurrent respiratory infections | Rheumatoid factor positive | Skeletal muscle atrophy | Skin rash | Sparse hair | Tachypnea | Telangiectasia | Thrombocytosis" ], "symptoms_ja_list": [ "CRP 上昇 | IgA 値増加 | IgG 値増加 | リウマチ因子陽性 | リンパ球減少症 | 反復性呼吸器感染症 | 反復性感染症 | 多呼吸 | 大理石皮膚 | 常染色体顕性遺伝 | 成長障害 (成長不全) | 抗リン脂質抗体陽性 | 抗核抗体陽性 | 毛細血管拡張 | 濾胞過形成 | 爪ジストロフィー | 疎な毛髪 | 発熱エピソード | 白血球減少症 | 皮膚発疹 | 筋炎 | 筋萎縮 | 紅斑 | 肺線維症 | 膿疱 | 血小板増多症 | 貧血 | 赤沈値上昇 | 関節拘縮 | 関節痛" ] }, { "id": "NANDO:1200688", "label_en": "22q11.2 deletion syndrome", "label_ja": "22q11.2欠失症候群", "yomigana": "22きゅー11.2けっしつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200688", "notificationNumber": "203", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal T cell physiology | Abnormal aortic arch morphology | Abnormal aortic valve morphology | Abnormal cardiovascular system morphology | Abnormal dental enamel morphology | Abnormal eyelid morphology | Abnormal facial shape | Abnormal lung lobation | Abnormal pulmonary valve morphology | Abnormal skull morphology | Abnormal thorax morphology | Abnormal thymus morphology | Abnormality of the dentition | Abnormality of the ear | Abnormality of the hand | Abnormality of the middle ear | Abnormality of the pharynx | Abnormality of the tonsils | Abnormality of the uterus | Abnormality of thrombocytes | Acne | Aganglionic megacolon | Aggressive behavior | Amblyopia | Anal atresia | Anemia | Anorectal anomaly | Anxiety | Aphasia | Arachnodactyly | Arrhinencephaly | Arthritis | Asthma | Atelectasis | Atrial septal defect | Attention deficit hyperactivity disorder | Atypical behavior | Autism | Autoimmunity | Autosomal dominant inheritance | Bifid uvula | Bipolar affective disorder | Blepharophimosis | Bowel incontinence | Bulbous nose | Carious teeth | Cataract | Choanal atresia | Cholelithiasis | Chronic otitis media | Chronic pulmonary obstruction | Cleft palate | Conductive hearing impairment | Constipation | Corneal neovascularization | Cryptorchidism | Delayed speech and language development | Depression | Double aortic arch | Downslanted palpebral fissures | Drooling | Emotional lability | Epicanthus | Esotropia | Exotropia | Failure to thrive | Feeding difficulties in infancy | Femoral hernia | Foot polydactyly | Gastroesophageal reflux | Gastrointestinal hemorrhage | Glaucoma | Global developmental delay | Hand polydactyly | Hearing impairment | Hemiparesis | Hepatic steatosis | High palate | High", "narrow palate | Hydrocele testis | Hydrocephalus | Hydronephrosis | Hypernasal speech | Hypertelorism | Hypertensive crisis | Hyperthyroidism | Hypocalcemia | Hypoparathyroidism | Hypopigmented skin patches | Hypoplasia of the thymus | Hypospadias | Hypothyroidism | Hypotonia | Immunodeficiency | Inguinal hernia | Intellectual disability | Interrupted aortic arch | Intervertebral disk degeneration | Intestinal malrotation | Intrauterine growth retardation | Joint hypermobility | Laryngomalacia | Long face | Long philtrum | Low-set ears | Malar flattening | Meningocele | Microcephaly | Micrognathia | Microphthalmia | Mild intellectual disability | Multiple renal cysts | Multiple suture craniosynostosis | Myalgia | Narrow mouth | Obesity | Open mouth | Optic atrophy | Ovarian cyst | Overfolded helix | Paranoia | Parathyroid agenesis | Parathyroid hypoplasia | Parkinsonism | Patellar dislocation | Patent ductus arteriosus | Pierre-Robin sequence | Pilonidal sinus | Platybasia | Polycystic kidney dysplasia | Polyhydramnios | Posterior embryotoxon | Prominent nasal bridge | Ptosis | Pulmonary artery atresia | Purpura | Recurrent infections | Recurrent otitis media | Recurrent pneumonia | Recurrent sinusitis | Renal dysplasia | Renal hypoplasia | Renal insufficiency | Retinal arteriolar tortuosity | Retinal vascular tortuosity | Retrognathia | Right aortic arch with mirror image branching | Schizophrenia | Sclerocornea | Scoliosis | Seborrheic dermatitis | Seizure | Short neck | Short palpebral fissure | Short philtrum | Short stature | Small earlobe | Specific learning disability | Spina bifida | Splenomegaly | Strabismus | Submucous cleft hard palate | Talipes | Talipes equinovarus | Telecanthus | Tetany | Tetralogy of Fallot | Thrombocytopenia | Tricuspid atresia | Truncus arteriosus | Turricephaly | Umbilical hernia | Underdeveloped nasal alae | Unilateral primary pulmonary dysgenesis | Unilateral renal agenesis | Upslanted palpebral fissure | Varicose veins | Velopharyngeal insufficiency | Ventricular septal defect | Vesicoureteral reflux | Wide nasal bridge" ], "symptoms_ja_list": [ "?瘡 | Fallot 四徴症 | Pierre-Robin シークェンス | T 細胞生理の異常 | うつ | くも指 | テタニー | パラノイア | パーキンソン症候群 | 三尖弁閉鎖 | 下顎後退 | 不安 | 両眼隔離 | 中耳の異常 | 二分した口蓋垂 | 二分脊椎 | 伝音難聴 | 低カルシウム血症 | 低色素性皮膚斑 | 低身長 | 便秘 | 停留精巣 | 側弯 | 免疫不全 | 全般性発達遅滞 | 内反尖足 | 内斜視 | 内眼角外方偏位 | 内眼角贅皮 | 副甲状腺低形成 | 副甲状腺機能低下症 | 副甲状腺無発生 | 動脈管開存症 | 卵巣嚢胞 | 双極性感情障害 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性感染症 | 反復性肺炎 | 口蓋帆咽頭不全 | 口蓋裂 | 咽頭の異常 | 喉頭軟化症 | 喘息 | 塔状頭 | 外斜視 | 多嚢胞性腎異形成 | 多指症 | 多発性腎嚢胞 | 多発性頭蓋骨縫合早期癒合 | 多趾症 | 大動脈弁の異常 | 大動脈弓の異常 | 大動脈弓離断 | 大腿ヘルニア | 失語症 | 子宮内成長遅滞 | 子宮異常 | 小さい耳朶 | 小眼球 | 小頭 | 小顎 | 尖足 | 尿道下裂 | 常染色体顕性遺伝 | 幅広い鼻梁 | 平坦な頬 | 弱視 | 後部胎生環 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 情動不安定 | 慢性中耳炎 | 慢性閉塞性肺疾患 | 成長障害 (成長不全) | 扁平頭蓋底 | 扁桃の異常 | 手の異常 | 攻撃的行動 | 斜視 | 椎間板変性 | 歯の異常 | 歯エナメル質異常 | 毛巣洞 | 水腎症 | 水頭症 | 注意力欠陥多動性疾患 | 流涎 | 無嗅脳症 | 無気肺 | 無神経節性巨大結腸 | 片側不全麻痺 | 片側性原発性肺異発生 | 片側性腎無発生 | 特異的学習障害 | 狭い口 | 球状の鼻 | 甲状腺機能亢進症 | 甲状腺機能低下症 | 異常な顔の形 | 発作 | 発語および言語発達遅延 | 白内障 | 目立つ鼻梁 | 眼瞼の異常 | 眼瞼下垂 | 眼瞼裂斜上 | 眼瞼裂斜下 | 眼瞼裂狭小 | 知的障害 | 知的障害", "軽度 | 短い人中 | 短い眼瞼裂 | 短い頸部 | 筋痛 | 筋緊張低下 | 粘膜下硬口蓋裂 | 紫斑 | 統合失調症 | 網膜小動脈蛇行 | 網膜血管蛇行 | 総動脈幹 | 緑内障 | 羊水過多 | 耳の異常 | 耳介低位 | 耳輪の過剰な巻き込み | 肛門直腸奇形 | 肥満 | 肺分葉の異常 | 肺動脈弁の異常 | 肺動脈閉鎖 | 胃腸出血 | 胃食道逆流 | 胆石症 | 胸腺の異常 | 胸腺低形成 | 胸郭の異常 | 脂漏性皮膚炎 | 脂肪肝 | 脾腫 | 腎不全 | 腎低形成 | 腎異形成 | 腸回転異常 | 膀胱尿管逆流 | 膝蓋骨脱臼 | 臍ヘルニア | 自己免疫 | 自閉症 | 血小板の異常 | 血小板減少 | 行動異常 | 視神経萎縮 | 角膜硬化 | 角膜血管新生 | 貧血 | 遺糞症 | 重複大動脈弓 | 鎖肛 | 鏡像分枝を伴う右大動脈弓 | 長い人中 | 長い顔 | 開口 | 関節炎 | 関節過動 | 陰嚢水腫 | 難聴 | 静脈瘤 | 頭蓋骨の異常 | 食餌摂取障害 in infancy | 髄膜瘤 | 高口蓋 | 高狭口蓋 | 高血圧クライシス | 鼠径ヘルニア | 鼻声発語 | 鼻翼未発達 | 齲歯" ] }, { "id": "NANDO:1200846", "label_en": "Hepatic glycogen storage disease type VI", "label_ja": "肝型糖原病VI型", "yomigana": "かんがたとうげんびょう6がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200846", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal distention | Abnormality of the kidney | Autosomal recessive inheritance | Cirrhosis | Delayed puberty | Elevated circulating hepatic transaminase concentration | Exercise-induced muscle cramps | Failure to thrive | Failure to thrive in infancy | Growth delay | Hepatic fibrosis | Hepatocellular carcinoma | Hepatomegaly | Hypercholesterolemia | Hyperlipidemia | Hypertriglyceridemia | Hypertrophic cardiomyopathy | Hypoglycemia | Hypotonia | Increased hepatic glycogen content | Intermittent lactic acidemia | Irritability | Ketosis | Motor delay | Osteopenia | Osteoporosis | Portal fibrosis | Postnatal growth retardation | Postprandial hyperlactemia | Proteinuria | Short stature | Sleep disturbance" ], "symptoms_ja_list": [ "ケトン症 | 乳児期の成長障害 (成長不全) | 低血糖 | 低身長 | 常染色体潜性遺伝 | 思春期遅発 | 成長遅滞 | 成長障害 (成長不全) | 生後の成長遅滞 | 睡眠障害 | 筋緊張低下 | 肝グリコーゲン量増加 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝細胞癌 | 肝線維症 | 肝腫 | 肥大型心筋症 | 腎異常 | 腹部膨満 | 蛋白尿 | 被刺激性 | 運動発達遅滞 | 運動誘発性筋けいれん | 門脈線維症 | 間歇的乳酸性酸血症 | 食後高乳酸血症 | 骨減少症 | 骨粗鬆症 | 高コレステロール血症 | 高トリグリセリド血症 | 高脂血症" ] }, { "id": "NANDO:2201011", "label_en": "Osteogenesis imperfecta", "label_ja": "骨形成不全症", "yomigana": "こつけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201011", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal cortical bone morphology | Abnormal dental enamel morphology | Abnormal endocardium morphology | Abnormal femur morphology | Abnormal hip bone morphology | Abnormal long bone morphology | Abnormal metaphysis morphology | Abnormal rib morphology | Abnormal tibia morphology | Abnormal vertebral body morphology | Abnormality of dental color | Abnormality of the dentition | Anxiety | Aortic aneurysm | Aortic dissection | Aortic regurgitation | Aortic root aneurysm | Arterial dissection | Arthralgia | Ataxia | Basilar invagination | Biconcave vertebral bodies | Blue sclerae | Bone pain | Bowing of the long bones | Brachycephaly | Brain stem compression | Bruising susceptibility | Carious teeth | Cerebral hemorrhage | Cervical kyphosis | Constipation | Convex nasal ridge | Corneal opacity | Cranial nerve paralysis | Cutis laxa | Decreased skull ossification | Delayed eruption of teeth | Dental malocclusion | Dentinogenesis imperfecta | Diaphyseal undertubulation | Dislocated radial head | Dysphagia | Enlarged vertebral pedicles | Exercise intolerance | Fatigue | Femoral bowing | Flexion contracture | Gait disturbance | Genu valgum | Glaucoma | Growth delay | Headache | Hearing impairment | Hydrocephalus | Hypercalciuria | Hyperhidrosis | Increased susceptibility to fractures | Inguinal hernia | Intestinal obstruction | Intrauterine growth retardation | Joint hypermobility | Kidney stone | Kyphosis | Large fontanelles | Loss of ambulation | Macrocephaly | Micrognathia | Micromelia | Mitral valve prolapse | Mixed hearing impairment | Morphological central nervous system abnormality | Multiple rib fractures | Narrow chest | Neonatal respiratory distress | Noncommunicating hydrocephalus | Nystagmus | Osteoarthritis | Osteopenia | Osteoporosis | Paresthesia | Pectus carinatum | Pectus excavatum | Progressive hearing impairment | Prominent occiput | Protrusio acetabuli | Pulmonary hypoplasia | Recurrent fractures | Recurrent long bone fractures | Reduced bone mineral density | Relative macrocephaly | Rhizomelia | Scoliosis | Short stature | Slender long bone | Small for gestational age | Somatic sensory dysfunction | Syringomyelia | Tetraparesis | Thin ribs | Thoracic hypoplasia | Thrombocytopenia | Triangular face | Trigeminal neuralgia | Umbilical hernia | Ventriculomegaly | Vertebral compression fracture | Visceral angiomatosis | Visual impairment | Wormian bones" ], "symptoms_ja_list": [ "はと胸 | ウォルム氏骨 | 三叉神経痛 | 三角形の顔 | 不安 | 不正咬合 | 両凹の椎体骨 | 中枢神経の形態異常 | 低身長 | 便秘 | 側弯 | 僧帽弁逸脱 | 内臓血管腫症 | 凸の鼻梁 | 出血傾向 | 動脈解離 | 反復性骨折 | 嚥下障害 | 四肢不全麻痺 | 四肢近位短縮 | 在胎月齢より小さい児 | 外反膝 | 多汗 | 多発性肋骨骨折 | 大きな泉門 | 大動脈基部拡大 | 大動脈瘤 | 大動脈解離 | 大動脈逆流 | 大脳出血 | 大腿骨の異常 | 大腿骨湾曲 | 大頭 | 子宮内成長遅滞 | 寛骨の異常 | 寛骨臼突出 | 小肢症 | 小顎 | 屈曲拘縮 | 弛緩性皮膚 | 後弯 | 循環器系の形態異常 | 心内膜の異常 | 感覚異常 | 感覚障害 | 成長遅滞 | 新生児呼吸窮迫 | 易骨折性の増加 | 椎体骨形態異常 | 橈骨頭脱臼 | 歩行障害 | 歯の異常 | 歯エナメル質異常 | 歯色の異常 | 歯萠出遅延 | 比較的大頭 | 水頭症 | 混合性難聴 | 漏斗胸 | 狭い胸郭 | 疲労 | 目立つ後頭 | 眼振 | 短頭 | 細い肋骨 | 細い長管骨 | 緑内障 | 肋骨の異常 | 肺低形成 | 胸郭低形成 | 脊椎圧迫骨折 | 脊椎椎弓根の拡大 | 脊髄空洞症 | 脛骨の異常 | 脳室拡大 | 脳幹圧迫 | 脳神経麻痺 | 腎結石 | 腸閉塞 | 臍ヘルニア | 血小板減少 | 視力障害 | 角膜混濁 | 象牙質形成不全 | 進行性歩行不安定 | 進行性難聴 | 運動不耐症 | 運動失調 | 長管骨形態の異常 | 長管骨湾曲 | 長管骨骨折 | 関節痛 | 関節過動 | 難聴 | 青色胸膜 sclerae | 非交通性水頭症 | 頚椎後弯 | 頭痛 | 頭蓋底嵌頓 | 頭蓋骨骨化減少 | 骨ミネラル濃度減少 | 骨幹の肥厚 | 骨幹端の異常 | 骨減少症 | 骨痛 | 骨皮質形態異常 | 骨粗鬆症 | 骨関節炎 | 高カルシウム尿 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:1200792", "label_en": "Propionic acidemia", "label_ja": "プロピオン酸血症", "yomigana": "ぷろぴおんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200792", "notificationNumber": "245", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of immune system physiology | Acute encephalopathy | Anemia | Apnea | Arrhythmia | Autosomal recessive inheritance | Axial hypotonia | Cardiomyopathy | Cerebellar hemorrhage | Cerebral atrophy | Coma | Constipation | Decreased total neutrophil count | Dehydration | Dystonia | Eczematoid dermatitis | Failure to thrive | Feeding difficulties in infancy | Global developmental delay | Hepatomegaly | Hyperammonemia | Hyperglycinemia | Hyperglycinuria | Hypoglycemia | Intellectual disability | Lactic acidosis | Lethargy | Limb hypertonia | Metabolic acidosis | Organic aciduria | Osteoporosis | Pancreatitis | Pancytopenia | Poor appetite | Propionyl-CoA carboxylase deficiency | Seizure | Short stature | Tachypnea | Thrombocytopenia | Vomiting" ], "symptoms_ja_list": [ "Propionyl-CoA carboxylase 欠乏症 | ジストニア | 不整脈 | 乳酸性アシドーシス | 代謝性アシドーシス | 低血糖 | 低身長 | 体幹の筋緊張低下 | 便秘 | 免疫系生理の異常 | 全般性発達遅滞 | 嘔吐 | 四肢筋緊張亢進 | 多呼吸 | 大脳萎縮 | 好中球減少症 | 小脳出血 | 常染色体潜性遺伝 | 心筋症 | 急性脳症 | 成長障害 (成長不全) | 昏睡 | 有機酸尿 | 汎血球減少症 | 湿疹 | 無呼吸 | 無気力 | 発作 | 知的障害 | 肝腫 | 脱水 | 膵炎 | 血小板減少 | 貧血 | 食思不振 | 食餌摂取障害 in infancy | 骨粗鬆症 | 高アンモニア血症 | 高グリシン尿 | 高グリシン血症" ] }, { "id": "NANDO:1200996", "label_en": "Aicardi-Goutières Syndrome", "label_ja": "エカルディ・グティエール症候群", "yomigana": "えかるでぃ・ぐてぃえーるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200996", "notificationNumber": "325", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormality of extrapyramidal motor function | Abnormality of eye movement | Acrocyanosis | Aortic aneurysm | Arrhinencephaly | Arthritis | Autoimmunity | Axial hypotonia | Brain atrophy | Calcification of the aorta | Cardiomegaly | Cerebral calcification | Chilblains | Chronic CSF lymphocytosis | Chronic lymphatic leukemia | Convex nasal ridge | Cutis marmorata | Demyelinating peripheral neuropathy | Developmental glaucoma | Developmental regression | Diabetes mellitus | Dry skin | Dystonia | Elevated circulating hepatic transaminase concentration | Extrapyramidal muscular rigidity | Eyelid coloboma | Gait disturbance | Glaucoma | Global developmental delay | Headache | Hemiplegia/hemiparesis | Hepatosplenomegaly | Hoarse voice | Hypertonia | Hypertrophic cardiomyopathy | Hypoplasia of the corpus callosum | Hypothyroidism | Increased CSF interferon alpha | Irritability | Leukodystrophy | Lipoatrophy | Loss of speech | Low-set ears | Microcephaly | Micropenis | Moyamoya phenomenon | Multifocal cerebral white matter abnormalities | Multiple joint contractures | Muscle stiffness | Myositis | Neonatal alloimmune thrombocytopenia | Nystagmus | Panniculitis | Plagiocephaly | Porencephalic cyst | Profound intellectual disability | Prolonged neonatal jaundice | Ptosis | Scoliosis | Seizure | Short stature | Spastic paraparesis | Spastic tetraplegia | Spasticity | Tremor | Unexplained fevers | Ventriculomegaly" ], "symptoms_ja_list": [ "もやもや現象 | ジストニア | ロイコジストロフィー | 不明熱 | 乾いた皮膚 | 低身長 | 体幹の筋緊張低下 | 側弯 | 先天性緑内障 | 全般性発達遅滞 | 凍瘡病変 | 凸の鼻梁 | 嗄声 | 多巣性大脳白質異常 | 多発性関節拘縮 | 大動脈瘤 | 大動脈石灰化 | 大理石皮膚 | 大脳石灰化 | 孔脳症 | 小陰茎 | 小頭 | 心拡大 | 慢性リンパ性白血病 | 慢性髄液細胞増多症 | 振戦 | 斜頭 | 新生児同種免疫性血小板減少 | 歩行障害 | 無嗅脳症 | 片麻痺/片側不全麻痺 | 甲状腺機能低下症 | 痙性 | 痙性四肢麻痺 | 痙性対不全麻痺 | 発作 | 発語喪失 | 発達退行 | 眼振 | 眼瞼下垂 | 眼瞼裂 | 眼運動の異常 | 知的障害", "最重度 | 筋炎 | 筋硬直 | 筋緊張亢進 | 糖尿病 | 緑内障 | 耳介低位 | 肝トランスアミナーゼ上昇 | 肝脾腫 | 肢端チアノーゼ | 肥大型心筋症 | 脂肪織炎 | 脂肪萎縮 | 脱髄性末梢運動神経ニューロパチー | 脳室拡大 | 脳梁低形成 | 脳萎縮 | 自己免疫 | 被刺激性 | 遷延性新生児黄疸 | 錐体外路筋硬直 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 関節炎 | 頭痛 | 髄液インターフェロンα増加" ] }, { "id": "NANDO:1200717", "label_en": "Anti-GBM rapidly progressive glomerulonephritis", "label_ja": "急速進行性糸球体腎炎（抗GBM抗体陽性）", "yomigana": "きゅうそくしんこうせいしきゅうたいじんえん（こうじーびーえむこうたいようせい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200717", "notificationNumber": "220", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Anemia | Arthralgia | Arthritis | Autoimmunity | Chest pain | Cough | Cyanosis | Cylindruria | Erythrocyte cylindruria | Exertional dyspnea | Fatigue | Fever | Glomerulonephritis | Glomerulopathy | Hematuria | Hemoptysis | Increased blood urea nitrogen | Macroscopic hematuria | Myalgia | Pallor | Persistence of primary teeth | Polygenic inheritance | Proteinuria | Pulmonary infiltrates | Purpura | Renal insufficiency | Respiratory insufficiency | Restrictive ventilatory defect | Retinal detachment | Tachypnea | Vasculitis | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "チアノーゼ | 乳歯遺残 | 体重喪失 | 共通 | 円柱尿 | 呼吸不全 | 喀血 | 外層 | 多呼吸 | 多因子遺伝 | 拘束性肺疾患 | 疲労 | 発熱 | 筋痛 | 糸球体症 | 糸球体腎炎 | 紫斑 | 網膜剥離 | 肉眼的血尿 | 肺浸潤 | 腎不全 | 自己免疫 | 蒼白 | 蛋白尿 | 血中尿素窒素(BUN)増加 | 血尿 | 血管炎 | 貧血 | 赤血球円柱尿 | 運動性呼吸困難 | 関節炎 | 関節痛" ] }, { "id": "NANDO:1200998", "label_en": "Osteopetrosis", "label_ja": "大理石骨病", "yomigana": "だいりせきこつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200998", "notificationNumber": "326", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201312", "label_en": "Crouzon disease (sagittal synostosis)", "label_ja": "クルーゾン病（矢状縫合）", "yomigana": "くるーぞんびょう（しじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201312", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200249", "label_en": "Hypoplastic left heart syndrome", "label_ja": "左心低形成症候群", "yomigana": "さしんていけいせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200249", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100071", "symptoms_en_list": [ "Abnormality of chromosome segregation | Atrial septal defect | Hypoplastic aortic arch | Hypoplastic left ventricle | Maternal diabetes | Mitral atresia | Mitral stenosis | Patent ductus arteriosus" ], "symptoms_ja_list": [ "僧帽弁狭窄 | 僧帽弁閉鎖 | 動脈管開存症 | 大動脈弓低形成 | 左心低形成 | 心房中隔欠損 | 染色体分離の異常 | 母体糖尿病" ] }, { "id": "NANDO:1200828", "label_en": "Glycogen storage diseases type V", "label_ja": "筋型糖原病V型", "yomigana": "きんがたとうげんびょう5がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200828", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Acute kidney injury | Autosomal recessive inheritance | Childhood onset | Chronic kidney disease | Dysphagia | Elevated circulating creatine kinase activity | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced muscle stiffness | Exercise-induced myalgia | Exercise-induced myoglobinuria | Exercise-induced rhabdomyolysis | Exertional dyspnea | Fatigue | Hypertrophic cardiomyopathy | Hyperuricemia | Impaired mastication | Increased muscle glycogen content | Juvenile onset | Middle age onset | Muscle weakness | Myoglobinuria | Progressive proximal muscle weakness | Recurrent myoglobinuria | Rhabdomyolysis | Skeletal muscle atrophy | Tachycardia" ], "symptoms_ja_list": [ "ミオグロビン尿 | 反復性ミオグロビン尿 | 咀嚼こんな | 嚥下障害 | 常染色体潜性遺伝 | 急性腎外傷 | 慢性腎疾患 | 横紋筋融解 | 疲労 | 筋グリコーゲン量増加 | 筋萎縮 | 筋虚弱 | 肥大型心筋症 | 血清 creatine phosphokinase上昇 | 進行性近位筋虚弱 | 運動不耐症 | 運動性呼吸困難 | 運動誘発性ミオグロビン尿 | 運動誘発性横紋筋融解 | 運動誘発性筋けいれん | 運動誘発性筋痛 | 運動誘発性筋硬直 | 頻拍 | 高尿酸血症" ] }, { "id": "NANDO:2100132", "label_en": "Hypoaldosteronism", "label_ja": "低アルドステロン症", "yomigana": "ていあるどすてろんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100132", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200570", "label_en": "Acid lipase deficiency", "label_ja": "酸性リパーゼ欠損症", "yomigana": "さんせいりぱーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200570", "notificationNumber": "116", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abdominal distention | Acute hepatic failure | Adrenal calcification | Adrenal insufficiency | Anemia | Ascites | Autosomal recessive inheritance | Bone-marrow foam cells | Cachexia | Death in infancy | Esophageal varix | Failure to thrive | Fever | Global developmental delay | Growth delay | Hepatic failure | Hepatomegaly | Infantile onset | Malnutrition | Nausea and vomiting | Splenomegaly | Steatorrhea | Vomiting" ], "symptoms_ja_list": [ "全般性発達遅滞 | 副腎不全 | 副腎石灰化 | 吐気と 嘔吐 | 嘔吐 | 常染色体潜性遺伝 | 急性肝不全 | 悪液質 (カヘキシー) | 成長遅滞 | 成長障害 (成長不全) | 栄養失調 | 発熱 | 肝不全 | 肝腫 | 脂肪便 | 脾腫 | 腹水 | 腹部膨満 | 貧血 | 食道静脈瘤 | 骨髄泡沫細胞" ] }, { "id": "NANDO:1200596", "label_en": "Hemiconvulsion-hemiplegia-epilepsy syndrome", "label_ja": "片側痙攣・片麻痺・てんかん症候群", "yomigana": "へんそくけいれん・かたまひ・てんかんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200596", "notificationNumber": "149", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200465", "label_en": "Lipoatrophic diabetes", "label_ja": "脂肪萎縮性糖尿病", "yomigana": "しぼういしゅくせいとうにょうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200465", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [ "Abnormal facial shape | Acanthosis nigricans | Accelerated skeletal maturation | Adipose tissue loss | Amenorrhea | Bone cyst | Cirrhosis | Clitoral hypertrophy | Congestive heart failure | Diabetes mellitus | Failure to thrive | Global developmental delay | Hepatic steatosis | Hepatomegaly | Hypercholesterolemia | Hyperinsulinemia | Hypertrichosis | Hypertriglyceridemia | Hypertrophic cardiomyopathy | Insulin resistance | Intellectual disability | Large hands | Lipodystrophy | Long foot | Low anterior hairline | Low posterior hairline | Macroglossia | Mandibular prognathia | Oligomenorrhea | Overgrowth of external genitalia | Polycystic ovaries | Precocious puberty in females | Prominent superficial veins | Prominent supraorbital ridges | Proportionate tall stature | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "うっ血性心不全 | インスリン抵抗性 | リポジストロフィー | 下顎突出 | 不均衡型高身長 | 低い前部毛髪線 | 全般性発達遅滞 | 外性器過成長 | 多嚢胞性卵巣 | 多毛症 | 大きな手 | 女性での思春期早発 | 巨舌 | 希発月経 | 後部毛髪線低位 | 成長障害 (成長不全) | 無月経 | 異常な顔の形 | 目立つ眼窩上縁 | 目立つ表面静脈 | 知的障害 | 筋肥大 | 糖尿病 | 肝硬変 | 肝腫 | 肥大型心筋症 | 脂肪組織喪失 | 脂肪肝 | 長い足 | 陰核肥大 | 骨嚢胞 | 骨成熟促進 | 高インスリン血症 | 高コレステロール血症 | 高トリグリセリド血症 | 黒色表皮腫" ] }, { "id": "NANDO:2200314", "label_en": "Pituitary gigantism", "label_ja": "下垂体性巨人症", "yomigana": "かすいたいせいきょじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200314", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100111", "symptoms_en_list": [ "Accelerated skeletal maturation | Amenorrhea | Coarse facial features | Elevated circulating growth hormone concentration | Frontal bossing | Galactorrhea | Hyperhidrosis | Hypertrophic cardiomyopathy | Increased circulating prolactin concentration | Large hands | Left ventricular hypertrophy | Long foot | Mandibular prognathia | Pituitary growth hormone cell adenoma | Pituitary prolactin cell adenoma | Premature pubarche | Proportionate tall stature | Tall stature | Type II diabetes mellitus" ], "symptoms_ja_list": [ "II 型糖尿病 | プロラクチン過剰症 | 下垂体プロラクチン細胞腺腫 | 下垂体成長ホルモン細胞腺腫 | 下顎突出 | 不均衡型高身長 | 乳汁漏出 | 前頭突出", "額突出 | 多汗 | 大きな手 | 左室肥大 | 恥毛早発 | 成長ホルモン過剰症 | 無月経 | 粗な顔貌 | 肥大型心筋症 | 長い足 | 骨成熟促進 | 高身長" ] }, { "id": "NANDO:2100015", "label_en": "Nephronophthisis", "label_ja": "ネフロン癆", "yomigana": "ねふろんろう", "url": "http://nanbyodata.jp/ontology/NANDO_2100015", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200112", "label_en": "Minimal change nephrotic syndrome", "label_ja": "微小変化型ネフローゼ症候群", "yomigana": "びしょうへんかがたねふろーぜしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200112", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200230", "label_en": "Arrhythmogenic right ventricular cardiomyopathy or dysplasia", "label_ja": "不整脈源性右室心筋症", "yomigana": "ふせいみゃくげんせいうしつしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200230", "notificationNumber": "91", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100055", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200707", "label_en": "Bloom syndrome", "label_ja": "ブルーム症候群", "yomigana": "ぶるーむしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200707", "notificationNumber": "54", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [ "Abdominal obesity | Abnormal blistering of the skin | Abnormality of chromosome stability | Abnormality of the immune system | Abnormally high-pitched voice | Acute lymphoblastic leukemia | Acute myeloid leukemia | Adipose tissue loss | Agenesis of maxillary lateral incisor | Autosomal recessive inheritance | Azoospermia | Bronchiectasis | Bronchitis | Cafe-au-lait spot | Cheilitis | Chronic lung disease | Chronic pulmonary obstruction | Clinodactyly of the 5th finger | Congenital onset | Cryptorchidism | Cutaneous photosensitivity | Decreased circulating IgA concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased circulating immunoglobulin concentration | Decreased fertility in females | Diabetes mellitus | Dolichocephaly | Esophageal neoplasm | Facial erythema | Facial telangiectasia in butterfly midface distribution | Gastroesophageal reflux | Gastrostomy tube feeding in infancy | Growth delay | Hand polydactyly | Hepatic steatosis | Hypertrichosis | Hypopigmentation of the skin | Infantile onset | Insulin resistance | Intrauterine growth retardation | Leukemia | Lymphoma | Malar flattening | Male infertility | Malignant genitourinary tract tumor | Microcephaly | Micrognathia | Mild intellectual disability | Myelodysplasia | Narrow face | Neoplasm | Neoplasm of the breast | Neoplasm of the colon | Neoplasm of the skin | Nephroblastoma | Oligozoospermia | Otitis media | Paronychia | Patchy alopecia | Pneumonia | Poikiloderma | Poor appetite | Postnatal growth retardation | Premature ovarian insufficiency | Prominent nose | Protruding ear | Recurrent herpes | Recurrent infections | Recurrent tonsillitis | Recurrent upper respiratory tract infections | Recurrent urinary tract infections | Respiratory failure | Respiratory tract infection | Retinopathy | Retrognathia | Rhinitis | Severe postnatal growth retardation | Skin rash | Small for gestational age | Sparse eyelashes | Specific learning disability | Spotty hypopigmentation | Squamous cell carcinoma | Stomach cancer | Syndactyly | Telangiectasia | Type II diabetes mellitus | Uveitis" ], "symptoms_ja_list": [ "II 型糖尿病 | IgA欠乏症 | IgG欠乏症 | IgM欠乏症 | インスリン抵抗性 | カフェオーレ斑 | ブドウ膜炎 | ヘルペスウイルスへの感受性 | リンパ腫 | 上顎側切歯無発生 | 下顎後退 | 中耳炎 | 乏精子症 | 乳児期の胃瘻管栄養 | 乳房新生物 | 低ガンマグロブリン血症 | 停留精巣 | 免疫系の異常 | 反復性上気道感染症 | 反復性尿路感染症 | 反復性感染症 | 口唇炎 | 合指趾症 | 呼吸不全 | 呼吸器感染 | 在胎月齢より小さい児 | 基底細胞癌 | 多形皮膚萎縮症 (ポイキロデルマ) | 多指症 | 多毛症 | 女性の妊孕性減少 | 子宮内成長遅滞 | 小頭 | 小顎 | 常染色体潜性遺伝 | 平坦な頬 | 急性リンパ性白血病 | 急性骨髄性白血病 | 悪性泌尿生殖器腫瘍 | 慢性肺疾患 | 慢性閉塞性肺疾患 | 成長遅滞 | 扁桃炎 | 斑状低色素 | 斑状禿頭 | 新生物 | 早発性卵巣不全 | 染色体安定性の異常 | 毛細血管拡張 | 気管支拡張 | 気管支炎 | 無精子症 | 爪周囲炎 | 特異的学習障害 | 狭い顔 | 生後の成長遅滞 | 男性不妊 | 異常な皮膚水泡 | 疎な睫毛 | 白血病 | 皮膚低色素 | 皮膚光線過敏症 | 皮膚新生物 | 皮膚発疹 | 目立つ鼻 | 知的障害", "軽度 | 第5指弯指 | 糖尿病 | 結腸新生物 | 網膜症 | 耳介聳立 | 肺炎 | 胃癌 | 胃食道逆流 | 脂肪組織喪失 | 脂肪肝 | 腎芽腫 (Wilms 腫瘍) | 腹部肥満 | 蝶形顔面中部分布の顔面毛細血管拡張 | 重度の生後の成長遅滞 | 長頭 | 顔面紅斑 | 食思不振 | 食道新生物 | 骨髄異形成 | 高音の声 | 鼻炎" ] }, { "id": "NANDO:1200528", "label_en": "Dystonia 15", "label_ja": "DYT15ジストニア", "yomigana": "でぃーわいてぃー15じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200528", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal dominant inheritance | Dystonia | Myoclonus | Writer's cramp" ], "symptoms_ja_list": [ "ジストニア | ミオクローヌス | 常染色体顕性遺伝 | 書痙" ] }, { "id": "NANDO:1200157", "label_en": "Fabry disease", "label_ja": "ファブリー病", "yomigana": "ふぁぶりーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200157", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal pain | Abnormal aortic valve morphology | Abnormal autonomic nervous system physiology | Abnormal circulating lipid concentration | Abnormal endocardium morphology | Abnormal femur morphology | Abnormal glycosphingolipid metabolism | Abnormal myocardium morphology | Abnormal renal tubule morphology | Abnormality of the hand | Achalasia | Airway obstruction | Anemia | Angina pectoris | Angiokeratoma | Angiokeratoma corporis diffusum | Anorexia | Anxiety | Arrhythmia | Arthralgia | Arthritis | Atrioventricular block | Atypical behavior | Bundle branch block | Cataract | Chronic pain | Chronic pulmonary obstruction | Coarse facial features | Cognitive impairment | Congestive heart failure | Conjunctival telangiectasia | Corneal dystrophy | Corneal opacity | Delayed puberty | Depression | Developmental regression | Diabetes insipidus | Diarrhea | Dyspnea | Emphysema | Exercise intolerance | Fasciculations | Fatigue | Fever | Glomerulopathy | Hearing impairment | Heat intolerance | Hematuria | Hyperhidrosis | Hyperkeratosis | Hyperlipidemia | Hypertension | Hypertrophic cardiomyopathy | Hypohidrosis | Juvenile onset | Left ventricular hypertrophy | Lymphedema | Malabsorption | Mitral regurgitation | Mucosal telangiectasiae | Muscle spasm | Myalgia | Myocardial infarction | Nausea | Nausea and vomiting | Nephropathy | Nephrotic syndrome | Optic atrophy | Paresthesia | Proteinuria | Reduced bone mineral density | Renal insufficiency | Respiratory insufficiency | Seizure | Sensorineural hearing impairment | Short stature | Stroke | Subcutaneous nodule | Telangiectasia of the skin | Tenesmus | Thick lower lip vermilion | Tinnitus | Transient ischemic attack | Ventricular septal hypertrophy | Vertigo | Vomiting | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うっ血性心不全 | うつ | びまん性体部被角血管腫 | アカラジア | グリコスフィンゴリピド 代謝の異常 | ネフローゼ症候群 | リンパ性浮腫 | 一過性虚血発作 | 下痢 | 不安 | 不整脈 | 低身長 | 僧帽弁逆流 | 分厚い下口唇唇紅部 | 卒中 | 吐気 | 吐気と 嘔吐 | 吸収障害 | 呼吸不全 | 呼吸困難 | 嘔吐 | 多汗 | 大動脈弁の異常 | 大腿骨の異常 | 尿崩症 | 左室中隔肥大 | 左室肥大 | 心内膜の異常 | 心筋の異常 | 心筋梗塞 | 思春期遅発 | 感覚異常 | 感音難聴 | 慢性疼痛 | 慢性閉塞性肺疾患 | 房室ブロック | 手の異常 | 減汗症 | 熱不耐性 | 狭心症 | 異常な自律神経生理 | 疲労 | 発作 | 発熱 | 発達退行 | 白内障 | 皮下結節 | 皮膚毛細血管拡張 | 眩暈 | 筋けいれん | 筋痛 | 粗な顔貌 | 粘膜の毛細血管拡張 | 糸球体症 | 結膜毛細血管拡張 | 線維束性収縮 | 耳鳴 | 肥大型心筋症 | 肺気腫 | 脂質代謝の異常 | 脚ブロック | 腎不全 | 腎尿細管異常 | 腎症 | 腹痛 | 蛋白尿 | 血尿 | 行動異常 | 被角血管腫 | 裏急後重", "テネスムス | 視神経萎縮 | 角膜ジストロフィー | 角膜混濁 | 認知障害 | 貧血 | 運動不耐症 | 過角化症 | 閉塞性肺疾患 | 関節炎 | 関節痛 | 難聴 | 食思不振 | 骨ミネラル濃度減少 | 高脂血症 | 高血圧" ] }, { "id": "NANDO:2201482", "label_en": "Secondary atrophic kidney", "label_ja": "続発性萎縮腎", "yomigana": "ぞくはつせいいしゅくじん", "url": "http://nanbyodata.jp/ontology/NANDO_2201482", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100026", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200629", "label_en": "Other hereditary hemolytic anemia", "label_ja": "11から17までに掲げるもののほか、遺伝性溶血性貧血", "yomigana": "11から17までにかかげるもののほか、いでんせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200629", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200755", "label_en": "Alpha-1-antitrypsin deficiency", "label_ja": "α1-アンチトリプシン欠乏症", "yomigana": "あるふぁわんあんちとりぷしんけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200755", "notificationNumber": "231", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Asthma | Autosomal recessive inheritance | Bronchiectasis | Bronchitis | Cholestasis | Chronic bronchitis | Chronic pulmonary obstruction | Cirrhosis | Cough | Dyspnea | Elevated circulating hepatic transaminase concentration | Emphysema | Failure to thrive in infancy | Hemoptysis | Hepatic fibrosis | Hepatitis | Hepatocellular carcinoma | Jaundice | Neonatal unconjugated hyperbilirubinemia | Panniculitis | Portal hypertension | Prolonged neonatal jaundice | Splenomegaly" ], "symptoms_ja_list": [ "乳児期の成長障害 (成長不全) | 呼吸困難 | 喀血 | 喘息 | 外層 | 常染色体潜性遺伝 | 慢性気管支炎 | 慢性閉塞性肺疾患 | 新生児不抱合型高ビリルビン血症 | 気管支拡張 | 気管支炎 | 肝トランスアミナーゼ上昇 | 肝炎 | 肝硬変 | 肝細胞癌 | 肝線維症 | 肺気腫 | 胆汁うっ滞 | 脂肪織炎 | 脾腫 | 遷延性新生児黄疸 | 門脈圧亢進 | 黄疸" ] }, { "id": "NANDO:2201162", "label_en": "Glycogen storage disease type IV, childhood combined hepatic and myopathic form", "label_ja": "幼児筋・肝型糖原病IV型", "yomigana": "ようじきん・かんがたとうげんびょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201162", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201092", "label_en": "Late-onset ornitine transcarbamylase deficiency", "label_ja": "遅発型オルニチントランスカルバミラーゼ欠損症", "yomigana": "ちはつがたおるにちんとらんすかるばみらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201092", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200014", "label_en": "Chorea-acanthocytosis", "label_ja": "有棘赤血球舞踏病", "yomigana": "ゆうきょくせっけっきゅうぶとうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200014", "notificationNumber": "9", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormality of eye movement | Absent Achilles reflex | Acanthocytosis | Aggressive behavior | Anxiety | Apathy | Areflexia | Arthritis | Atypical behavior | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Blepharospasm | Bradykinesia | Bruxism | Caudate atrophy | Cerebral cortical atrophy | Chorea | Compulsive behaviors | Decreased amplitude of sensory action potentials | Decreased number of peripheral myelinated nerve fibers | Dementia | Depression | Dilated cardiomyopathy | Diminished deep tendon reflex | Disinhibition | Distal amyotrophy | Distal muscle weakness | Drooling | Dysarthria | Dysphagia | Dystonia | EMG: neuropathic changes | Elevated circulating creatine kinase activity | Emotional lability | Equinovarus deformity | Falls | Frontal cortical atrophy | Functional motor deficit | Hair-pulling | Head titubation | Head-banging | Hepatomegaly | Hyperactivity | Hyperkinetic movements | Hypertonia | Hyporeflexia | Hypotonia | Impaired vibratory sensation | Inappropriate behavior | Incoordination | Involuntary movements | Iron accumulation in brain | Irritability | Laryngeal dystonia | Lateral ventricle dilatation | Limb dystonia | Limb muscle weakness | Loss of ambulation | Mental deterioration | Middle age onset | Motor tics | Muscle fiber atrophy | Myopathy | Orofacial dyskinesia | Oromandibular dystonia | Paranoia | Parkinsonism | Peripheral axonal neuropathy | Peroneal muscle atrophy | Personality changes | Pes cavus | Phonic tics | Progressive | Progressive choreoathetosis | Protruding tongue | Psychosis | Resting tremor | Seizure | Self-injurious behavior | Self-mutilation of tongue and lips due to involuntary movements | Sensory neuropathy | Short attention span | Skeletal muscle atrophy | Sleep disturbance | Slow saccadic eye movements | Slurred speech | Small basal ganglia | Splenomegaly | Temporomandibular joint crepitus | Tics | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "Dementia | うつ | アキレス腱反射欠損 | ジストニア | チック | パラノイア | パーキンソン症候群 | ミオパチー | 不安 | 不明瞭言語 | 不適切行動 | 不随意運動 | 不随意運動による舌と口唇の自己切断 | 体重喪失 | 側脳室拡大 | 側頭骨下顎関節捻髪音 | 全身性間代性強直性発作 | 内反尖足変形 | 凹足 | 前頭葉皮質萎縮 | 協調運動障害 | 反射低下 | 口下顎ジストニア | 口顔面ジスキネジア | 喉頭ジストニア | 嚥下障害 | 四肢ジストニア | 四肢筋虚弱 | 多動 | 大脳皮質萎縮 | 安静時振戦 | 小さい基底核 | 尾状核萎縮 | 常染色体潜性遺伝 | 強迫性行動 | 性格変化 | 情動不安定 | 感覚ニューロパチー | 手揺動 | 抜毛症 | 拡張型心筋症 | 振動覚障害 | 攻撃的行動 | 有棘赤血球増加 | 末梢有髄神経線維数の減少 | 末梢神経軸索ニューロパチー | 構音障害 | 機能的筋異常 | 歯ぎしり | 流涎 | 無反射 | 無関心", "感情鈍磨 | 異常な自律神経生理 | 発作 | 眼瞼スパスム | 眼運動の異常 | 睡眠障害 | 知能悪化 | 知覚神経活動電位の振幅減少 | 短い注意期間 | 筋緊張亢進 | 筋緊張低下 | 筋線維萎縮 | 筋萎縮 | 筋電図: 神経症変化 | 精神病 | 緩徐なサッカード性眼球運動 | 肝腫 | 脱抑制 | 脳内鉄沈着 | 脾腫 | 腓骨筋萎縮 | 腱反射減少 | 自傷行動 | 舌挺出 | 舞踏病 | 血清 creatine phosphokinase上昇 | 行動異常 | 被刺激性 | 転倒 | 進行性歩行不安定 | 進行性舞踏病様アテトーゼ | 運動性チック | 運動緩徐 | 遠位筋萎縮 | 遠位筋虚弱 | 関節炎 | 音性チック tics | 頭部強打" ] }, { "id": "NANDO:2201244", "label_en": "Adult neuronal ceroid lipofuscinosis", "label_ja": "成人型神経セロイドリポフスチン症", "yomigana": "せいじんがたしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201244", "notificationNumber": "121", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201016", "label_en": "Type II collagenopathy", "label_ja": "2型コラーゲン異常症関連疾患", "yomigana": "2がたこらーげんいじょうしょうかんれんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2201016", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal diaphysis morphology | Abnormal elbow epiphysis morphology | Abnormal epiphysis morphology | Abnormal metaphysis morphology | Abnormal patella morphology | Abnormal radial epiphysis morphology | Abnormal rib morphology | Abnormal vertebral body morphology | Abnormality of the ankle | Abnormality of the epiphyses of the feet | Abnormality of the knee | Anteverted nares | Arthralgia of the hip | Bell-shaped thorax | Bilateral coxa valga | Brachydactyly | Broad ribs | Camptodactyly of finger | Cleft palate | Coxa vara | Depressed nasal bridge | Downslanted palpebral fissures | Fragmented metacarpal epiphysis | Genu valgum | Genu varum | Hearing abnormality | Hypertelorism | Hypoplastic fingernail | Hypoplastic scapulae | Limb undergrowth | Low-set ears | Micromelia | Muscle weakness | Myopathy | Narrow chest | Narrow mouth | Omphalocele | Osteoarthritis | Plagiocephaly | Proptosis | Radially deviated wrists | Reduced arm span | Respiratory insufficiency | Round face | Short neck | Short ribs | Short stature | Ulnar deviated club hands | Waddling gait | Wide anterior fontanel" ], "symptoms_ja_list": [ "よたつき歩行 | ベル型胸 | ミオパチー | 上向きの鼻孔 | 両側性外反股 | 両眼隔離 | 中手骨骨端の断片化 | 丸い顔 | 低身長 | 内反股 | 内反膝 | 口蓋裂 | 呼吸不全 | 四肢成長不全 | 外反膝 | 小肢症 | 尺側内反手 | 屈指 | 幅広い大泉門 | 幅広い肋骨 | 手関節の橈側偏位 | 指爪低形成 | 斜頭 | 椎体骨形態異常 | 橈骨骨端の異常 | 狭い口 | 狭い胸郭 | 眼球突出 | 眼瞼裂斜下 | 短い肋骨 | 短い頸部 | 短指症候群 | 筋虚弱 | 耳介低位 | 聴覚異常 | 肋骨の異常 | 肘骨端の異常 | 股関節痛 | 肩甲骨低形成 | 腕長減少 | 膝の異常 | 膝蓋骨の異常 | 臍帯ヘルニア | 落ちくぼんだ鼻梁 | 足関節の異常 | 足骨端の異常 | 骨幹形態異常 | 骨幹端の異常 | 骨端の異常 | 骨関節炎" ] }, { "id": "NANDO:2200913", "label_en": "Microvillus inclusion disease", "label_ja": "微絨毛封入体病", "yomigana": "びじゅうもうふうにゅうたいびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200913", "notificationNumber": "30", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100254", "symptoms_en_list": [ "Abdominal distention | Abnormal intestine morphology | Abnormal renal physiology | Abnormal small intestinal villus morphology | Autosomal recessive inheritance | Death in infancy | Dehydration | Diarrhea | Global developmental delay | Growth delay | Hypovolemia | Malnutrition | Metabolic acidosis | Neonatal onset | Nephrocalcinosis | Protracted diarrhea | Pruritus | Villous atrophy" ], "symptoms_ja_list": [ "下痢 | 代謝性アシドーシス | 全般性発達遅滞 | 小腸絨毛形態の異常 | 常染色体潜性遺伝 | 循環血液量減少 | 成長遅滞 | 掻痒 | 栄養失調 | 絨毛萎縮 | 脱水 | 腎生理異常 | 腎石灰化症 | 腸の異常 | 腹部膨満 | 遷延性下痢" ] }, { "id": "NANDO:1200317", "label_en": "Congenital thrombotic thrombocytopenic purpura", "label_ja": "先天性血栓性血小板減少性紫斑病", "yomigana": "せんてんせいけっせんせいけっしょうばんげんしょうせいしはんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200317", "notificationNumber": "64", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal renal physiology | Autosomal recessive inheritance | Confusion | Elevated circulating creatinine concentration | Fever | Hemolytic-uremic syndrome | Increased blood urea nitrogen | Increased circulating lactate concentration | Jaundice | Microangiopathic hemolytic anemia | Microscopic hematuria | Myocardial infarction | Prolonged neonatal jaundice | Proteinuria | Respiratory distress | Reticulocytosis | Schistocytosis | Stroke | Thrombocytopenia | Transient ischemic attack | Tremor" ], "symptoms_ja_list": [ "一過性虚血発作 | 分裂赤血球増加症 | 卒中 | 呼吸窮迫 | 常染色体潜性遺伝 | 微小血管症性溶血性貧血 | 心筋梗塞 | 振戦 | 溶血性尿毒症候群症候群 | 発熱 | 網状赤血球増多症 | 腎生理異常 | 蛋白尿 | 血中尿素窒素(BUN)増加 | 血小板減少 | 血清クレアチン症状 | 血清乳酸増加 | 遷延性新生児黄疸 | 錯乱 | 顕微血尿 | 黄疸" ] }, { "id": "NANDO:1200848", "label_en": "Hepatic glycogen storage disease type IXb", "label_ja": "肝型糖原病IXb型", "yomigana": "かんがたとうげんびょう9びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200848", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Anemia | Autosomal recessive inheritance | Childhood onset | Cirrhosis | Delayed gross motor development | Delayed speech and language development | Diarrhea | Dysmenorrhea | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Exercise intolerance | Fasting hypoglycemia | Fatigue | Growth delay | Hepatic fibrosis | Hepatocellular adenoma | Hepatocellular carcinoma | Hepatomegaly | Hypercholesterolemia | Hypertriglyceridemia | Hyperuricemia | Hypoglycemia | Hypotonia | Increased body weight | Increased hepatic glycogen content | Increased muscle glycogen content | Infantile onset | Irregular menstruation | Ketotic hypoglycemia | Lactic acidosis | Limb-girdle muscle weakness | Mild global developmental delay | Muscle spasm | Muscle weakness | Myalgia | Myoglobinuria | Nausea | Oligomenorrhea | Osteoporosis | Pelvic girdle muscle weakness | Polycystic ovaries | Postnatal growth retardation | Progressive muscle weakness | Recurrent hypoglycemia | Recurrent infections | Renal tubular acidosis | Rhabdomyolysis | Short stature | Skeletal muscle atrophy | Splenomegaly | Vomiting" ], "symptoms_ja_list": [ "ケトン性低血糖 | ミオグロビン尿 | 下痢 | 乳酸性アシドーシス | 低血糖 | 低身長 | 体重増加 | 反復性低血糖 | 反復性感染症 | 吐気 | 嘔吐 | 多嚢胞性卵巣 | 希発月経 | 常染色体潜性遺伝 | 成長遅滞 | 月経不純 | 月経困難 | 横紋筋融解 | 生後の成長遅滞 | 疲労 | 発語および言語発達遅延 | 空腹時低血糖 | 筋けいれん | 筋グリコーゲン量増加 | 筋痛 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗大運動発達遅延 | 肝グリコーゲン量増加 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝細胞癌 | 肝細胞腺腫 | 肝線維症 | 肝腫 | 肢帯筋虚弱 | 脾腫 | 腎尿細管アシドーシス | 血清 creatine phosphokinase上昇 | 貧血 | 軽度の全般性発達遅滞 | 進行性筋虚弱 | 運動不耐症 | 骨盤帯筋筋虚弱 | 骨粗鬆症 | 高コレステロール血症 | 高トリグリセリド血症 | 高尿酸血症 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2201519", "label_en": "Congenital esophageal atresia Gross type B", "label_ja": "先天性食道閉鎖症 Gross B型", "yomigana": "せんてんせいしょくどうへいさしょう ぐろすびーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201519", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100308", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200926", "label_en": "Diffuse-type autoimmune pancreatitis", "label_ja": "びまん型自己免疫性膵炎", "yomigana": "びまんがたじこめんえきせいすいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200926", "notificationNumber": "300", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200444", "label_en": "Crohn's disease", "label_ja": "クローン病", "yomigana": "くろーんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200444", "notificationNumber": "96", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200831", "label_en": "Phosphoglycerate kinase deficiency", "label_ja": "ホスホグリセリン酸キナーゼ欠損症", "yomigana": "ほすほぐりせりんさんきなーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200831", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal nervous system physiology | Ataxia | Blindness | Delayed speech and language development | Emotional lability | Erythroid hyperplasia | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced muscle fatigue | Exercise-induced myalgia | Exercise-induced myoglobinuria | Global developmental delay | Hemolytic anemia | Hyperbilirubinemia | Intellectual disability | Juvenile onset | Migraine | Muscle spasm | Muscle weakness | Myoglobinuria | Myopathy | Renal insufficiency | Reticulocytosis | Retinal dystrophy | Rhabdomyolysis | Seizure | Tremor | Visual loss | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | ミオグロビン尿 | ミオパチー | 偏頭痛 | 全般性発達遅滞 | 情動不安定 | 振戦 | 横紋筋融解 | 溶血性貧血 | 発作 | 発語および言語発達遅延 | 盲 | 知的障害 | 神経系生理の異常 | 筋けいれん | 筋虚弱 | 網状赤血球増多症 | 網膜ジストロフィー | 腎不全 | 視力喪失 | 赤芽球系過形成 | 運動不耐症 | 運動失調 | 運動誘発性ミオグロビン尿 | 運動誘発性筋けいれん | 運動誘発性筋疲労 | 運動誘発性筋痛 | 高ビリルビン血症" ] }, { "id": "NANDO:2200427", "label_en": "Eosinophilic granulomatosis with polyangiitis", "label_ja": "好酸球性多発血管炎性肉芽腫症", "yomigana": "こうさんきゅうせいたはつけっかんえんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200427", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100153", "symptoms_en_list": [ "Abdominal pain | Abnormal pericardium morphology | Abnormal pleura morphology | Acrocyanosis | Airway obstruction | Arthralgia | Arthritis | Asthma | Autoimmunity | Central nervous system degeneration | Congestive heart failure | Cough | Cranial nerve paralysis | Crescentic glomerulonephritis | Cutis marmorata | Dysphagia | Endocarditis | Fatigue | Fever | Gait disturbance | Gastroesophageal reflux | Glomerulopathy | Hematuria | Hemiplegia/hemiparesis | Hemoptysis | Hypertension | Hypertrophic cardiomyopathy | Hypopigmented skin patches | Increased circulating IgE concentration | Increased inflammatory response | Increased total eosinophil count | Intestinal obstruction | Malabsorption | Myalgia | Myocardial infarction | Myocarditis | Myositis | Nasal polyposis | Nausea and vomiting | Papule | Peripheral neuropathy | Pleural effusion | Proteinuria | Pulmonary infiltrates | Purpura | Recurrent intrapulmonary hemorrhage | Renal insufficiency | Respiratory insufficiency | Rheumatoid factor positive | Sinusitis | Skin rash | Subcutaneous nodule | Transient ischemic attack | Tubulointerstitial nephritis | Urticaria | Vasculitis | Venous thrombosis | Weight loss" ], "symptoms_ja_list": [ "IgE 値増加 | うっ血性心不全 | リウマチ因子陽性 | 一過性虚血発作 | 丘疹 | 中枢神経変性 | 低色素性皮膚斑 | 体重喪失 | 副鼻腔炎 | 半月形糸球体腎炎 | 反復性肺内出血 | 吐気と 嘔吐 | 吸収障害 | 呼吸不全 | 喀血 | 喘息 | 嚥下障害 | 外層 | 大理石皮膚 | 好酸球増多症 | 尿細管間質性腎炎 | 心内膜炎 | 心外膜の異常 | 心筋梗塞 | 心筋炎 | 末梢神経ニューロパチー | 歩行障害 | 炎症反応増加 | 片麻痺/片側不全麻痺 | 疲労 | 発熱 | 皮下結節 | 皮膚発疹 | 筋炎 | 筋痛 | 糸球体症 | 紫斑 | 肢端チアノーゼ | 肥大型心筋症 | 肺浸潤 | 胃食道逆流 | 胸膜の異常 | 胸膜滲出液 | 脳神経麻痺 | 腎不全 | 腸閉塞 | 腹痛 | 自己免疫 | 蕁麻疹 | 蛋白尿 | 血尿 | 血管炎 | 閉塞性肺疾患 | 関節炎 | 関節痛 | 静脈血栓症 | 高血圧 | 鼻ポリープ症" ] }, { "id": "NANDO:2200569", "label_en": "Pompe disease", "label_ja": "ポンペ病", "yomigana": "ぽんぺびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200569", "notificationNumber": "126", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal internal carotid artery morphology | Areflexia | Atelectasis | Bowel incontinence | Camptocormia | Cardiomegaly | Chronic pain | Cognitive impairment | Cranial nerve paralysis | Delayed speech and language development | Diaphragmatic weakness | Difficulty climbing stairs | Dilatation of the cerebral artery | Dysarthria | Dysphagia | EMG: myopathic abnormalities | Elevated circulating creatine kinase activity | Exercise intolerance | Exertional dyspnea | Facial hypotonia | Failure to thrive | Fatigue | Feeding difficulties in infancy | Flexion contracture | Floppy infant | Gait disturbance | Generalized muscle weakness | Gowers sign | Growth delay | Hearing impairment | Hepatomegaly | Hyperlordosis | Hypertrophic cardiomyopathy | Hypomimic face | Hyporeflexia | Impaired mastication | Inability to walk | Left ventricular hypertrophy | Lower limb muscle weakness | Macroglossia | Motor axonal neuropathy | Motor delay | Muscle weakness | Myalgia | Oligosacchariduria | Orthopnea | Osteoporosis | Progressive proximal muscle weakness | Ptosis | Recurrent respiratory infections | Respiratory distress | Respiratory failure | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Respiratory tract infection | Scoliosis | Shortened PR interval | Sleep apnea | Thoracic aortic aneurysm | Tongue fasciculations | Tongue muscle weakness | Transient ischemic attack | Vasculitis" ], "symptoms_ja_list": [ "Gowers サイン | オリゴ糖尿 | 一過性虚血発作 | 下肢筋虚弱 | 乳児筋性筋緊張低下 | 仮面顔 | 側弯 | 全身性筋虚弱 | 前屈症 | 前弯 | 反射低下 | 反復性呼吸器感染症 | 呼吸不全 | 呼吸器感染 | 呼吸窮迫 | 咀嚼こんな | 嚥下障害 | 大脳動脈瘤 | 屈曲拘縮 | 左室肥大 | 巨舌 | 心拡大 | 慢性疼痛 | 成長遅滞 | 成長障害 (成長不全) | 構音障害 | 横隔膜虚弱 | 歩行不能 | 歩行障害 | 無反射 | 無気肺 | 疲労 | 発語および言語発達遅延 | 眼瞼下垂 | 睡眠時無呼吸 | 短い PR 間隔 | 筋痛 | 筋虚弱 | 筋虚弱による呼吸不全 | 筋電図: ミオパチー異常 | 肝腫 | 肥大型心筋症 | 胸部大動脈瘤 | 脳神経麻痺 | 舌線維束性収縮 | 舌運動障害 | 血清 creatine phosphokinase上昇 | 血管炎 | 認知障害 | 起坐呼吸 | 進行性近位筋虚弱 | 運動不耐症 | 運動性呼吸困難 | 運動性軸索ニューロパチー | 運動発達遅滞 | 遺糞症 | 階段の登り困難 | 難聴 | 顔面筋緊張低下 | 食餌摂取障害 in infancy | 骨粗鬆症" ] }, { "id": "NANDO:2201100", "label_en": "Neonatal-onset hyperargininemia", "label_ja": "新生児期発症型高アルギニン血症", "yomigana": "しんせいじきはっしょうがたこうあるぎにんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201100", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201241", "label_en": "Infantile neuronal ceroid lipofuscinosis", "label_ja": "乳児型神経セロイドリポフスチン症", "yomigana": "にゅうじがたしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201241", "notificationNumber": "121", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Ataxia | Autosomal recessive inheritance | Blindness | Cerebral atrophy | Decreased light- and dark-adapted electroretinogram amplitude | Depression | EEG abnormality | Flexion contracture | Generalized hypotonia | Global developmental delay | Hallucinations | Hypotonia | Increased neuronal autofluorescent lipopigment | Intellectual disability | Irritability | Juvenile onset | Loss of speech | Macular degeneration | Myoclonus | Optic atrophy | Progressive microcephaly | Progressive visual loss | Psychomotor deterioration | Retinal degeneration | Secondary microcephaly | Seizure | Sleep disturbance | Spasticity | Undetectable electroretinogram | Vacuolated lymphocytes | Vascular granular osmiophilic material deposition" ], "symptoms_ja_list": [ "うつ | ミオクローヌス | 代謝/ホメオスターシスの異常 | 全般性発達遅滞 | 全身性筋緊張低下 | 大脳萎縮 | 屈曲拘縮 | 常染色体潜性遺伝 | 幻覚 | 生後の小頭 | 痙性 | 発作 | 発語喪失 | 盲 | 睡眠障害 | 知的障害 | 神経び自己蛍光脂肪色素の増加 | 空胞化リンパ球 | 筋緊張低下 | 精神運動発達悪化 | 細胞内顆粒状オスミウム好性沈着物 (GROD) | 網膜変性 | 網膜電図 (ERG) 廃絶 | 網膜電図 (ERG) 振幅減少 | 脳波異常 | 被刺激性 | 視神経萎縮 | 進行性小頭 | 進行性視力喪失 | 運動失調 | 黄斑変性" ] }, { "id": "NANDO:2100076", "label_en": "Double outlet right ventricle", "label_ja": "両大血管右室起始症", "yomigana": "りょうだいけっかんうしつきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100076", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200749", "label_en": "Clericuzio-type poikiloderma with neutropenia syndrome", "label_ja": "好中球減少を伴うClericuzio型多形皮膚萎縮症", "yomigana": "こうちゅうきゅうげんしょうをともなうくれりっくじおがたたけいひふいしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200749", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Autosomal recessive inheritance | Blepharitis | Carious teeth | Conjunctivitis | Decreased total leukocyte count | Decreased total neutrophil count | Depressed nasal bridge | Dermal atrophy | Edema | Elevated circulating creatine kinase activity | Frontal bossing | Growth delay | Hyperkeratosis | Hypertelorism | Infantile onset | Joint hypermobility | Joint stiffness | Long philtrum | Low posterior hairline | Micrognathia | Midface retrusion | Nail dystrophy | Nasolacrimal duct obstruction | Palmoplantar keratoderma | Plantar hyperkeratosis | Poikiloderma | Recurrent bronchopulmonary infections | Recurrent otitis media | Recurrent pneumonia | Recurrent sinusitis | Reticular hyperpigmentation | Retrognathia | Short nose | Short stature | Skin rash | Sparse lateral eyebrow | Splenomegaly | Telangiectasia | Underdeveloped nasal alae" ], "symptoms_ja_list": [ "下顎後退 | 両眼隔離 | 低身長 | 前頭突出", "額突出 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性気管支肺感染症 | 反復性肺炎 | 多形皮膚萎縮症 (ポイキロデルマ) | 好中球減少症 | 小顎 | 常染色体潜性遺伝 | 後部毛髪線低位 | 成長遅滞 | 掌蹠角皮症 | 毛細血管拡張 | 浮腫 | 爪ジストロフィー | 疎な外側眉毛 | 白血球減少症 | 皮膚発疹 | 皮膚萎縮 | 眼瞼炎 | 短い鼻 | 結膜炎 | 網状高色素 | 脾腫 | 落ちくぼんだ鼻梁 | 血清 creatine phosphokinase上昇 | 足底過角化症 | 過角化症 | 長い人中 | 関節拘縮 | 関節過動 | 顔面中部後退 | 鼻涙管閉塞 | 鼻翼未発達 | 齲歯" ] }, { "id": "NANDO:2100242", "label_en": "Infantile bilateral striatal necrosis", "label_ja": "乳児両側線条体壊死", "yomigana": "にゅうじりょうそくせんじょうたいえし", "url": "http://nanbyodata.jp/ontology/NANDO_2100242", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201171", "label_en": "Mucopolysaccharidosis type II, attenuated form", "label_ja": "軽症型ムコ多糖症II型", "yomigana": "けいしょうがたむこたとうしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201171", "notificationNumber": "130", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200489", "label_en": "Cystinuria", "label_ja": "シスチン尿症", "yomigana": "しすちんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200489", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal urinary odor | Abnormality of amino acid metabolism | Argininuria | Autosomal dominant inheritance | Autosomal recessive inheritance | Cystinuria | Hematuria | Hypercalciuria | Hyperlysinuria | Hypertension | Hyperuricemia | Hyperuricosuria | Hypocitraturia | Kidney stone | Nausea and vomiting | Ornithinuria | Recurrent urinary tract infections | Renal insufficiency" ], "symptoms_ja_list": [ "アミノ酸代謝の異常 | アルギニン尿症 | オルニチン尿 | シスチン尿 | 低クエン酸尿 | 反復性尿路感染症 | 吐気と 嘔吐 | 尿臭異常 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 腎不全 | 腎結石 | 血尿 | 高カルシウム尿 | 高リジン尿 | 高尿酸尿 | 高尿酸血症 | 高血圧" ] }, { "id": "NANDO:1200476", "label_en": "Blau syndrome", "label_ja": "ブラウ症候群", "yomigana": "ぶらうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200476", "notificationNumber": "110", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal choroid morphology | Abnormal cranial nerve morphology | Abnormal inflammatory response | Abnormal optic nerve morphology | Abnormal retinal vascular morphology | Abnormal salivary gland morphology | Abnormality of the ear | Abnormality of the liver | Anemia | Aortic aneurysm | Arthralgia | Arthritis | Autosomal dominant inheritance | Band keratopathy | Camptodactyly of finger | Cataract | Clear cell renal cell carcinoma | Cystoid macular edema | Dry skin | Dyspnea | Eczematoid dermatitis | Erythema | Erythema nodosum | Facial palsy | Fever | Flexion contracture of toe | Glaucoma | Hyperpigmentation of the skin | Hypertension | Ichthyosis | Intermittent generalized erythematous papular rash | Iridocyclitis | Iritis | Joint swelling | Keratitis | Large vessel vasculitis | Limitation of joint mobility | Lymphadenopathy | Nephropathy | Nongranulomatous uveitis | Papule | Pericarditis | Photophobia | Polyarticular arthritis | Posterior uveitis | Pulmonary arterial hypertension | Retinopathy | Retrobulbar optic neuritis | Skin rash | Skin ulcer | Splenomegaly | Stage 5 chronic kidney disease | Synovitis | Uveitis | Visual loss | Xerostomia" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | ブドウ膜炎 | リンパ節腫大 | 丘疹 | 乾いた皮膚 | 口内乾燥症 | 呼吸困難 | 唾液腺の異常 | 多関節関節炎 | 大動脈瘤 | 大血管血管炎 | 屈指 | 帯状角膜症 | 常染色体顕性遺伝 | 後部ブドウ膜炎 | 心外膜炎 | 湿疹 | 滑膜炎 | 異常な炎症反応 | 発熱 | 白内障 | 皮膚潰瘍 | 皮膚発疹 | 皮膚高色素 | 眼球後部視神経炎 | 紅斑 | 結節性紅斑 | 網膜症 | 網膜血管の異常 | 緑内障 | 羞明 | 耳の異常 | 肝の異常 | 肺高血圧 | 脈絡膜の異常 | 脳神経の異常 | 脾腫 | 腎明細胞癌 | 腎症 | 虹彩毛様体炎 | 虹彩炎 | 視力喪失 | 視神経の異常 | 角膜炎 | 貧血 | 趾屈曲拘縮 | 間歇的全身性紅斑性丘疹 | 関節炎 | 関節痛 | 関節腫脹 | 関節運動制限 | 非肉芽腫性ブドウ膜炎 | 顔面麻痺 | 類嚢胞性黄斑浮腫 | 高血圧 | 魚鱗癬" ] }, { "id": "NANDO:2201248", "label_en": "Adrenomyeloneuropathy", "label_ja": "副腎脊髄ニューロパチー", "yomigana": "ふくじんせきずいにゅーろぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_2201248", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [ "Abnormal circulating fatty acid concentration | Abnormal skin pigmentation | Abnormal spinal cord morphology | Adrenal insufficiency | Adrenocortical abnormality | Adrenocorticotropic hormone excess | Atrophy of the spinal cord | Atrophy/Degeneration involving the corticospinal tracts | Atypical behavior | Babinski sign | Back pain | Bowel incontinence | Cerebral dysmyelination | Cognitive impairment | Decreased circulating vitamin B12 concentration | Delayed somatosensory central conduction time | Distal lower limb muscle weakness | Distal sensory impairment | Dorsal column degeneration | Dysarthria | Dysesthesia | Erectile dysfunction | Fatigue | Fine hair | Frontal balding | Functional motor deficit | Hyperreflexia | Intra-oral hyperpigmentation | Leg muscle stiffness | Lip hyperpigmentation | Memory impairment | Peripheral axonal degeneration | Peripheral neuropathy | Primary adrenal insufficiency | Progressive spastic paraparesis | Spastic gait | Spasticity | Urinary bladder sphincter dysfunction | Urinary incontinence | Urinary retention | Urinary urgency | Very long chain fatty acid accumulation" ], "symptoms_ja_list": [ "Babinski サイン | ビタミンB12欠乏症 | 下肢筋硬直 | 中枢性身体感覚誘発電位の異常 | 前頭部禿頭 | 副腎不全 | 副腎皮質刺激ホルモン過剰 | 副腎皮質異常 | 勃起異常 | 原発性副腎不全 | 反射亢進 | 口唇高色素 | 口腔内高色素 | 大脳髄鞘形成異常症 | 尿意切迫 | 尿閉 | 後柱変性 | 感覚異常 | 末梢神経ニューロパチー | 末梢神経軸索変性 | 極長鎖脂肪酸蓄積 | 構音障害 | 機能的筋異常 | 疲労 | 痙性 | 痙性歩行 | 皮膚色素の異常 | 皮質脊髄路萎縮/変性 | 細い毛髪 | 背部痛 | 脂肪酸代謝の異常 | 脊髄の異常 | 脊髄萎縮 | 膀胱括約筋機能障害 | 行動異常 | 記憶障害 | 認知障害 | 進行性痙性対不全麻痺 | 遠位下肢筋虚弱 | 遠位感覚障害 | 遺尿 | 遺糞症" ] }, { "id": "NANDO:2200887", "label_en": "Infantile neuroaxonal dystrophy", "label_ja": "乳児神経軸索ジストロフィー", "yomigana": "にゅうじしんけいじくさくじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200887", "notificationNumber": "96", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100241", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200967", "label_en": "CFC Syndrome", "label_ja": "CFC症候群", "yomigana": "しーえふしーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200967", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal eyelash morphology | Abnormal heart valve morphology | Abnormal speech pattern | Abnormality of the eye | Abnormality of the gastrointestinal tract | Abnormality of vision | Anteverted nares | Aplasia/Hypoplasia of the eyebrow | Atrial septal defect | Biparietal narrowing | Brittle hair | Cavernous hemangioma | Cerebral cortical atrophy | Coarse facial features | Cryptorchidism | Cubitus valgus | Deep palmar crease | Depressed nasal bridge | Downslanted palpebral fissures | Dry skin | Dysarthria | Dystrophic fingernails | EEG abnormality | Epicanthus | Excessive wrinkled skin | Failure to thrive in infancy | Feeding difficulties in infancy | Fine hair | Frontal bossing | Full cheeks | Functional abnormality of the gastrointestinal tract | Generalized hyperpigmentation | Genu valgum | Global developmental delay | High forehead | High palate | Hydrocephalus | Hydronephrosis | Hyperextensible skin | Hyperkeratosis | Hypertelorism | Hypertrophic cardiomyopathy | Hypoplasia of the zygomatic bone | Hypotonia | Ichthyosis | Intellectual disability | Long face | Long palpebral fissure | Long philtrum | Low posterior hairline | Lymphedema | Macrocephaly | Macrotia | Multiple cafe-au-lait spots | Multiple lentigines | Myopia | Nystagmus | Optic atrophy | Palmoplantar keratoderma | Pectus excavatum | Posteriorly rotated ears | Premature birth | Ptosis | Pulmonic stenosis | Redundant skin | Scoliosis | Short neck | Short nose | Short stature | Slow-growing hair | Sparse hair | Sparse or absent eyelashes | Strabismus | Submucous cleft hard palate | Thickened helices | Underdeveloped supraorbital ridges | Webbed neck" ], "symptoms_ja_list": [ "リンパ性浮腫 | 上向きの鼻孔 | 両眼隔離 | 両頭頂径狭小 | 乳児期の成長障害 (成長不全) | 乾いた皮膚 | 低身長 | 停留精巣 | 側弯 | 全般性発達遅滞 | 全身性高色素 | 内眼角贅皮 | 分厚い耳輪 | 前頭突出", "額突出 | 外反肘 | 外反膝 | 多発性カフェオーレ斑 | 多発性黒子 | 大きな頬 | 大耳 | 大脳皮質萎縮 | 大頭 | 後部毛髪線低位 | 循環器系の形態異常 | 心弁の異常 | 心房中隔欠損 | 成長の遅い毛髪 | 指爪ジストロフィー | 掌蹠角皮症 | 斜視 | 早産 | 構音障害 | 水腎症 | 水頭症 | 海綿状血管腫 | 深い手掌屈曲線 | 漏斗胸 | 疎な/欠損した睫毛 | 疎な毛髪 | 眉毛の無形成/低形成 | 眼の異常 | 眼振 | 眼瞼下垂 | 眼瞼裂斜下 | 眼窩上縁未発達 | 睫毛の異常 | 知的障害 | 短い頸部 | 短い鼻 | 神経学的発語障害 | 筋緊張低下 | 粗な顔貌 | 粘膜下硬口蓋裂 | 細い毛髪 | 翼状頚 | 耳介後方回転 | 肥大型心筋症 | 肺動脈狭窄 | 胃腸管の異常 | 胃腸管機能異常 | 脆い毛髪 | 脳波異常 | 落ちくぼんだ鼻梁 | 視神経萎縮 | 視覚の異常 | 近視 | 過伸展皮膚 | 過剰な皮膚 | 過剰な皺の多い皮膚 | 過角化症 | 長い人中 | 長い眼瞼裂 | 長い顔 | 頬骨未発達 | 食餌摂取障害 in infancy | 高い額 | 高口蓋 | 魚鱗癬" ] }, { "id": "NANDO:2200008", "label_en": "Acute monocytic leukemia", "label_ja": "急性骨髄単球性白血病", "yomigana": "きゅうせいこつずいたんきゅうせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200008", "notificationNumber": "72", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [ "Abnormality of multiple cell lineages in the bone marrow | Acute monocytic leukemia | Anemia | Ankle swelling | Anorexia | Central hypothyroidism | Exertional dyspnea | Fatigue | Fever | Hypochromic anemia | Increased total leukocyte count | Increased total lymphocyte count | Oliguria | Periorbital edema | Progressive hearing impairment | Subcutaneous nodule | Typified by somatic mosaicism | Weight loss" ], "symptoms_ja_list": [ "リンパ球増多症 | 中枢性甲状腺機能低下症 | 乏尿 | 低色素性貧血 | 体細胞モザイク | 体重喪失 | 急性単球性白血病 | 疲労 | 発熱 | 白血球増多症 | 皮下結節 | 眼窩周囲浮腫 | 貧血 | 足関節腫大 | 進行性難聴 | 運動性呼吸困難 | 食思不振 | 骨髄の多細胞系の異常" ] }, { "id": "NANDO:1200817", "label_en": "Congenital erythropoietic porphyria", "label_ja": "先天性骨髄性ポルフィリン症", "yomigana": "せんてんせいこつずいせいぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200817", "notificationNumber": "254", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal bleeding | Abnormal blistering of the skin | Abnormal circulating porphyrin concentration | Abnormality of the amniotic fluid | Absent eyebrow | Alopecia | Anisocytosis | Atypical scarring of skin | Autosomal recessive inheritance | Blindness | Cholelithiasis | Congenital onset | Conjunctivitis | Corneal scarring | Corneal ulceration | Cutaneous photosensitivity | Decreased circulating vitamin D concentration | Decreased total leukocyte count | Ectropion | Edema | Erythroid hyperplasia | Facial hypertrichosis | Fragile skin | Hemolytic anemia | Hepatomegaly | Hyperpigmentation of the skin | Hypertrichosis | Hypopigmentation of the skin | Increased connective tissue | Increased erythrocyte protoporphyrin concentration | Increased urinary porphobilinogen | Jaundice | Joint contracture of the hand | Keratoconjunctivitis | Loss of eyelashes | Neoplasm of the skin | Nonimmune hydrops fetalis | Osteolysis | Osteopenia | Osteoporosis | Paresthesia | Pathologic fracture | Poikilocytosis | Porphyrinuria | Pruritus | Recurrent bacterial skin infections | Reticulocytosis | Scarring | Scarring alopecia of scalp | Scleritis | Scleroderma | Severe photosensitivity | Short stature | Skin erosion | Splenomegaly | Squamous cell carcinoma | Thickened skin | Thrombocytopenia | Unconjugated hyperbilirubinemia | Vertebral compression fracture" ], "symptoms_ja_list": [ "ビタミンD欠乏症 | ヘム生合成経路の異常 | ポルフィリン尿 | 不抱合型高ビリルビン血症 | 低身長 | 分厚い皮膚 | 反復性細菌性皮膚感染症 | 基底細胞癌 | 外反(眼瞼) | 多毛症 | 尿中ポルホビリノーゲン増加 | 常染色体潜性遺伝 | 強皮症 | 感覚異常 | 手関節拘縮 | 掻痒 | 浮腫 | 溶血性貧血 | 異型赤血球増加症 | 異常な出血 | 異常な皮膚水泡 | 病的骨折 | 瘢痕 | 白血球減少症 | 皮膚びらん | 皮膚低色素 | 皮膚光線過敏症 | 皮膚新生物 | 皮膚高色素 | 盲 | 眉毛欠損 | 睫毛喪失 | 禿頭 | 結合織増加 | 結膜炎 | 網状赤血球増多症 | 羊水の異常 | 肝腫 | 胆石症 | 胸膜炎 | 脆い皮膚 | 脊椎圧迫骨折 | 脾腫 | 血小板減少 | 角結膜炎 | 角膜潰瘍 | 角膜瘢痕 | 赤芽球系過形成 | 赤血球プロトポルフィリン濃度増加 | 赤血球大小不同 | 重度の光線過敏症 | 非免疫性胎児水腫 | 非典型的皮膚瘢痕 | 頭皮の瘢痕性禿頭 | 顔面多毛症 | 骨減少症 | 骨粗鬆症 | 骨融解 | 黄疸" ] }, { "id": "NANDO:2200103", "label_en": "Neurinoma", "label_ja": "神経鞘腫", "yomigana": "しんけいしょうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200103", "notificationNumber": "55", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Abnormal cranial nerve morphology | Abnormal esophagus morphology | Abnormal fibula morphology | Abnormal parotid gland morphology | Abnormal temporal bone morphology | Abnormality of the adrenal glands | Abnormality of the breast | Abnormality of the larynx | Abnormality of the liver | Abnormality of the twelfth cranial nerve | Acute episodes of neuropathic symptoms | Allodynia | Facial palsy | Hearing abnormality | Intestinal polyposis | Malignant peripheral nerve sheath tumor | Morphological central nervous system abnormality | Nasal polyposis | Pain | Peripheral schwannoma | Schwannoma | Scleral schwannoma | Vertigo | Vestibular schwannoma" ], "symptoms_ja_list": [ "シュワン細胞腫 | 中枢神経の形態異常 | 乳房の異常 | 側頭骨の異常 | 前庭シュワン細胞腫 | 副腎異常 | 喉頭の異常 | 強膜シュワン細胞腫 | 末梢神経シュワン細胞腫 | 異痛症 | 疼痛 | 眩暈 | 神経病症状の急性エピソード | 神経線維肉腫 | 第12脳神経の異常 | 耳下腺異常 | 聴覚異常 | 肝の異常 | 脳神経の異常 | 腓骨の異常 | 腸ポリープ症 | 顔面麻痺 | 食道の異常 | 鼻ポリープ症" ] }, { "id": "NANDO:1200124", "label_en": "Mucolipidosis II", "label_ja": "ムコリピドーシスII型", "yomigana": "むこりぴどーしす2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200124", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal cardiovascular system morphology | Abnormal long bone morphology | Abnormal mitral valve morphology | Abnormal rib cage morphology | Anteverted nares | Aortic regurgitation | Appendicular hypotonia | Arthrogryposis multiplex congenita | Atlantoaxial dislocation | Autosomal recessive inheritance | Axial hypotonia | Beaking of vertebral bodies T12-L3 | Brittle hair | Bullet-shaped phalanges of the hand | Camptodactyly | Cardiomegaly | Cardiomyopathy | Carpal bone hypoplasia | Cavernous hemangioma | Cerebral cortical atrophy | Childhood onset | Coarse facial features | Cognitive impairment | Conductive hearing impairment | Congestive heart failure | Coxa valga | Craniosynostosis | Death in childhood | Decreased movement range in interphalangeal joints | Deficiency of N-acetylglucosamine-1-phosphotransferase | Depressed nasal bridge | Diastasis recti | Dry hair | Elevated circulating beta-hexosaminidase activity | Enlarged kidney | Epicanthus | Expressive language delay | Failure to thrive | Fetal onset | Fine hair | Flared iliac wing | Flat acetabular roof | Flat face | Gastrostomy tube feeding in infancy | Generalized hypotonia | Gingival overgrowth | Global developmental delay | Growth delay | Hepatomegaly | Hepatosplenomegaly | High forehead | Hip contracture | Hip dislocation | Hip dysplasia | Hoarse voice | Hypertelorism | Hypertrophic cardiomyopathy | Hypopigmentation of the skin | Hypoplasia of the odontoid process | Hypoplastic scapulae | Hyporeflexia | Hypotonia | Inability to walk | Increased iduronate sulfatase level | Infantile onset | Inguinal hernia | Knee flexion contracture | Kyphosis | Large sella turcica | Left ventricular hypertrophy | Limitation of joint mobility | Limited shoulder movement | Limited wrist movement | Long philtrum | Lower thoracic interpediculate narrowness | Lumbar scoliosis | Macroglossia | Megalocornea | Metaphyseal widening | Micrognathia | Mitral regurgitation | Motor delay | Mucopolysacchariduria | Myelopathy | Narrow chest | Narrow forehead | Neonatal hypotonia | Obstructive sleep apnea | Oligohydramnios | Opacification of the corneal stroma | Osteopenia | Otitis media | Ovoid vertebral bodies | Palpebral edema | Patent foramen ovale | Pathologic fracture | Pectus excavatum | Poor head control | Poor speech | Postnatal growth retardation | Premature anterior fontanel closure | Progressive alveolar ridge hypertrophy | Prominent metopic ridge | Protuberant abdomen | Pulmonic regurgitation | Recurrent bronchitis | Recurrent otitis media | Recurrent pneumonia | Recurrent respiratory infections | Respiratory failure requiring assisted ventilation | Restricted chest movement | Restrictive ventilatory defect | Sensorineural hearing impairment | Severe global developmental delay | Severe postnatal growth retardation | Shallow orbits | Short long bone | Short stature | Sparse hair | Splenomegaly | Split hand | Stridor | Talipes equinovarus | Telangiectases of the cheeks | Thickened calvaria | Thickened skin | Thoracolumbar kyphoscoliosis | Trigonocephaly | Umbilical hernia | Varus deformity of humeral neck | Weight loss | White hair | Wide intermamillary distance | Wide mouth" ], "symptoms_ja_list": [ "N-acetylglucosamine-1-phosphotransferase 欠乏症 | うっ血性心不全 | くちばし状T12-L3椎体骨 | ミエロパチー | ムコ多糖症 | 三角頭蓋 | 上向きの鼻孔 | 上腕骨頸部の内反変形 | 下胸椎椎弓根間狭窄 | 両眼隔離 | 中耳炎 | 乳児期の胃瘻管栄養 | 乾いた毛髪 | 伝音難聴 | 低身長 | 体幹の筋緊張低下 | 体肢筋筋緊張低下 | 体重喪失 | 僧帽弁の異常 | 僧帽弁逆流 | 先天性多発性関節拘縮 | 全般性発達遅滞 | 全身性筋緊張低下 | 内反尖足 | 内眼角贅皮 | 分厚い皮膚 | 分厚い頭蓋冠 | 卵円孔開存 | 卵形椎体骨 | 反射低下 | 反復性中耳炎 | 反復性呼吸器感染症 | 反復性気管支炎 | 反復性肺炎 | 喘鳴 | 嗄声 | 外反股 | 大きなトルコ鞍 | 大動脈弁の異常 | 大動脈逆流 | 大脳皮質萎縮 | 小顎 | 屈指 | 左室肥大 | 巨大角膜 | 巨舌 | 常染色体潜性遺伝 | 幅広い乳頭間距離 | 幅広い口 | 平坦な寛骨臼蓋 | 平坦な顔 | 弾丸型の手の指骨 | 後弯 | 循環器系の形態異常 | 心拡大 | 心筋症 | 感音難聴 | 成長遅滞 | 成長障害 (成長不全) | 手根骨低形成 | 手関節運動制限 | 拘束性肺疾患 | 指間関節の運動範囲減少 | 新生児筋緊張低下 | 早発性大泉門閉鎖 | 歩行不能 | 歯状突起低形成 | 歯肉過成長 | 浅い眼窩 | 海綿状血管腫 | 漏斗胸 | 狭い胸郭 | 狭い額 | 環軸椎脱臼 | 生後の成長遅滞 | 疎な毛髪 | 病的骨折 | 発語不全 | 発語遅延 | 白髪 | 皮膚低色素 | 目立つ前頭縫合隆起 | 眼瞼浮腫 | 短い長管骨 | 筋緊張低下 | 粗な顔貌 | 細い毛髪 | 羊水過少 | 肋骨胸郭の異常 | 肝脾腫 | 肝腫 | 股関節拘縮 | 股関節異形成 | 股関節脱臼 | 肥大型心筋症 | 肩甲骨低形成 | 肩運動制限 | 肺不全 | 胸腰椎後側弯 | 胸郭運動制限 | 脆い毛髪 | 脾腫 | 腎拡大 | 腰椎側弯 | 腸骨翼フレア | 腹直筋離開 | 腹部突出 | 膝屈曲拘縮 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 血清 beta-hexosaminidase の増加 | 血清 iduronate sulfatase 活性の増加 | 裂手 | 補助換気が必要な呼吸不全 | 角膜間質混濁形成 | 認知障害 | 進行性歯槽隆起肥大 | 運動発達遅滞 | 重度の全般性発達遅滞 | 重度の生後の成長遅滞 | 長い人中 | 長管骨形態の異常 | 閉塞性睡眠時無呼吸 | 関節運動制限 | 頬部毛細血管拡張 | 頭蓋合骨症 | 頸定不全 | 骨幹端拡大 | 骨減少症 | 高い額 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200779", "label_en": "Vitamin D-resistant rickets", "label_ja": "ビタミンD抵抗性くる病", "yomigana": "びたみんでぃーていこうせいくるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200779", "notificationNumber": "238", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal circulating calcium concentration | Abnormal dentin morphology | Abnormal epiphysis morphology | Abnormal lower-limb metaphysis morphology | Abnormal pelvic girdle bone morphology | Alopecia | Arthralgia | Arthritis | Bone pain | Bowing of the legs | Bowing of the long bones | Bulging epiphyses | Cellulitis | Chiari type I malformation | Craniosynostosis | Cupped metaphyses of hand bones | Delayed epiphyseal ossification | Delayed gross motor development | Disproportionate short stature | Dysphagia | Elevated circulating alkaline phosphatase concentration | Elevated circulating parathyroid hormone level | Enamel hypomineralization | Enlargement of the costochondral junction | Enthesitis | Fatigue | Femoral bowing | Fibular bowing | Flared iliac wing | Flattening of the talar dome | Frontal bossing | Generalized bone demineralization | Generalized osteosclerosis | Genu valgum | Genu varum | Growth delay | Hepatosplenomegaly | Hypocalciuria | Hypophosphatemia | Hypophosphatemic rickets | Infantile onset | Kidney stone | Limitation of joint mobility | Metaphyseal irregularity | Multiple rib fractures | Muscle weakness | Nephrocalcinosis | Odontodysplasia | Osteoarthritis | Osteomalacia | Rachitic rosary | Reduced bone mineral density | Renal phosphate wasting | Renal tubular dysfunction | Rickets | Rickets of the lower limbs | Sacroiliac joint synovitis | Secondary hyperparathyroidism | Sensorineural hearing impairment | Short stature | Shortening of the talar neck | Sleep disturbance | Sparse bone trabeculae | Spinal canal stenosis | Spinal cord compression | Sporadic | Thin bony cortex | Tibial bowing | Tinnitus | Trapezoidal distal femoral condyles | Upper limb metaphyseal widening | Vertebral hyperostosis | Waddling gait | X-linked dominant inheritance" ], "symptoms_ja_list": [ "I 型Arnold-Chiari 奇形 | X連鎖顕性遺伝 | くる病 | くる病 (下肢) | くる病性念珠 | よたつき歩行 | アルカリホスファターゼ上昇 | エナメル質低ミネラル化 | カルシウムホメオスターシスの異常 | 上肢の骨幹端拡大 | 下肢湾曲 | 下肢骨骨幹端の異常 | 不均衡型低身長 | 二次性副甲状腺機能亢進症 | 仙腸関節滑膜炎 | 低カルシウム尿 | 低リン血症 | 低リン血症性くる病 | 低身長 | 全身性骨硬化症 | 全身性骨脱ミネラル化 | 内反膝 | 前頭突出", "額突出 | 台形の遠位大腿骨顆 | 嚥下障害 | 外反膝 | 多発性肋骨骨折 | 大腿骨湾曲 | 孤発性 | 平坦な距骨ドーム | 循環性副甲状腺ホルモン(PTH) 値上昇 | 感音難聴 | 成長遅滞 | 手骨の杯状骨幹端 | 疎な骨梁 | 疲労 | 睡眠障害 | 短い距骨頸部 | 禿頭 | 突出した骨端 | 筋虚弱 | 粗大運動発達遅延 | 耳鳴 | 肋軟骨接合部の拡大 | 肝脾腫 | 脊椎管狭窄 | 脊椎過骨症 | 脊髄圧迫 | 脛骨湾曲 | 腎尿細管機能障害 | 腎性リン喪失 | 腎石灰化症 | 腎結石 | 腓骨湾曲 | 腱付着部炎 | 腸骨翼フレア | 薄い骨皮質 | 蜂巣織炎 | 象牙質異常 | 貝形歯 | 長管骨湾曲 | 関節炎 | 関節痛 | 関節運動制限 | 頭蓋合骨症 | 骨ミネラル濃度減少 | 骨幹端不規則性 | 骨痛 | 骨盤帯骨の形態異常 | 骨端の異常 | 骨端骨化遅延 | 骨軟化症 | 骨関節炎" ] }, { "id": "NANDO:1200794", "label_en": "Methylmalonyl-Coenzyme A mutase deficiency", "label_ja": "コバラミン代謝異常（MCM欠損症）", "yomigana": "こばらみんたいしゃいじょう（えむしーえむけっそんしょう）", "url": "http://nanbyodata.jp/ontology/NANDO_1200794", "notificationNumber": "246", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal globus pallidus morphology | Abnormal speech pattern | Anemia | Ataxia | Autosomal recessive inheritance | Cardiomyopathy | Cerebellar hemorrhage | Childhood onset | Choreoathetosis | Coma | Decreased total leukocyte count | Decreased total neutrophil count | Dehydration | Delayed CNS myelination | Diarrhea | Episodic metabolic acidosis | Failure to thrive | Feeding difficulties | Global developmental delay | Hepatomegaly | Hyperammonemia | Hyperglycinemia | Hypoglycemia | Hypotonia | Immunodeficiency | Infantile onset | Intellectual disability | Lethargy | Macrocytic anemia | Metabolic ketoacidosis | Methylmalonic acidemia | Methylmalonic aciduria | Muscle weakness | Nausea and vomiting | Neonatal onset | Optic atrophy | Pancreatitis | Paraparesis | Renal insufficiency | Respiratory distress | Respiratory insufficiency | Seizure | Stage 5 chronic kidney disease | Tetraparesis | Thrombocytopenia | Tubulointerstitial nephritis | Vomiting" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | メチルマロン酸尿 | メチルマロン酸血症 | 下痢 | 不全対麻痺 | 中枢神経髄鞘形成遅延 | 代謝性アシドーシスエピソード | 代謝性ケトアシドーシス | 低血糖 | 免疫不全 | 全般性発達遅滞 | 吐気と 嘔吐 | 呼吸不全 | 呼吸窮迫 | 嘔吐 | 四肢不全麻痺 | 大球性貧血 | 好中球減少症 | 小脳出血 | 尿細管間質性腎炎 | 常染色体潜性遺伝 | 心筋症 | 成長障害 (成長不全) | 昏睡 | 淡蒼球の異常 | 無気力 | 発作 | 白血球減少症 | 知的障害 | 神経学的発語障害 | 筋緊張低下 | 筋虚弱 | 肝腫 | 脱水 | 腎不全 | 膵炎 | 舞踏病アテトーゼ | 血小板減少 | 視神経萎縮 | 貧血 | 運動失調 | 食餌摂取障害 | 高アンモニア血症 | 高グリシン血症" ] }, { "id": "NANDO:2200284", "label_en": "Coarctation complex", "label_ja": "大動脈縮窄複合", "yomigana": "だいどうみゃくしゅくさくふくごう", "url": "http://nanbyodata.jp/ontology/NANDO_2200284", "notificationNumber": "60", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100098", "symptoms_en_list": [ "Abnormal left ventricular outflow tract morphology | Aortic valve atresia | Autosomal dominant inheritance | Bicuspid aortic valve | Cardiomegaly | Coarctation of aorta | Coarctation of the descending aortic arch | Congestive heart failure | Coronary artery atherosclerosis | Hypertension | Hypoplastic aortic arch | Hypoplastic left ventricle | Interrupted aortic arch | Non-Mendelian inheritance | Patent ductus arteriosus | Perimembranous ventricular septal defect | Persistent left superior vena cava | Pseudocoarctation of the aorta | Pulmonary arterial hypertension | Stroke | Tetralogy of Fallot" ], "symptoms_ja_list": [ "Fallot 四徴症 | うっ血性心不全 | 下行大動脈弓縮窄 | 二弁性大動脈弁 | 偽大動脈縮窄 | 冠動脈疾患 | 動脈管開存症 | 卒中 | 多因子遺伝 | 大動脈弁閉鎖 | 大動脈弓低形成 | 大動脈弓離断 | 大動脈縮窄 | 左室拍出路の異常 | 左心低形成 | 常染色体顕性遺伝 | 心拡大 | 持続性左上大静脈 | 肺高血圧 | 膜様部周囲心室中隔欠損 | 高血圧" ] }, { "id": "NANDO:1200430", "label_en": "Lymphangioleiomyomatosis", "label_ja": "リンパ脈管筋腫症", "yomigana": "りんぱみゃくかんきんしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200430", "notificationNumber": "89", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Pulmonary lymphangiomyomatosis | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "体細胞モザイク | 肺リンパ管筋腫症" ] }, { "id": "NANDO:2200986", "label_en": "Oculocutaneous albinism", "label_ja": "眼皮膚白皮症", "yomigana": "がんひふはくひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200986", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100282", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200600", "label_en": "Other disorder of neurotransmitter metabolism and transport", "label_ja": "122から127までに掲げるもののほか、神経伝達物質異常症", "yomigana": "122から127までにかかげるもののほか、しんけいでんたつぶっしついじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200600", "notificationNumber": "56", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100170", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200296", "label_en": "Idiopathic aplastic anemia", "label_ja": "特発性再生不良性貧血", "yomigana": "とくはつせいさいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200296", "notificationNumber": "60", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Anemia | Bone marrow hypocellularity | Decreased total neutrophil count | Epistaxis | Gingival bleeding | Pancytopenia | Recurrent infections | Reticulocytopenia | Retinal hemorrhage | Thrombocytopenia" ], "symptoms_ja_list": [ "反復性感染症 | 好中球減少症 | 歯肉出血 | 汎血球減少症 | 網状赤血球減少症 | 網膜出血 | 血小板減少 | 貧血 | 骨髄細胞数増多 | 鼻出血" ] }, { "id": "NANDO:1200214", "label_en": "Hereditary Transthyretin Amyloidosis", "label_ja": "遺伝性トランスサイレチンアミロイドーシス", "yomigana": "いでんせいとらんすさいれちんあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200214", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Anhidrosis | Arrhythmia | Cerebral amyloid angiopathy | Congestive heart failure | Constipation | Constrictive median neuropathy | Diarrhea | Foot dorsiflexor weakness | Gastroparesis | Glaucoma | Heart block | Impaired temperature sensation | Impotence | Keratoconjunctivitis sicca | Left ventricular hypertrophy | Lumbar spinal canal stenosis | Muscle weakness | Nausea and vomiting | Nephropathy | Nephrotic syndrome | Orthostatic hypotension due to autonomic dysfunction | Pain | Renal insufficiency | Restrictive cardiomyopathy | Sensorimotor neuropathy | Skeletal muscle atrophy | Tendon rupture | Urinary retention | Vitreous floaters | Weight loss" ], "symptoms_ja_list": [ "うっ血性心不全 | インポテンス | ネフローゼ症候群 | 下痢 | 不整脈 | 乾燥性 | 体重喪失 | 便秘 | 収縮性正中神経ニューロパチー | 吐気と 嘔吐 | 大脳アミロイド血管症 | 尿閉 | 左室肥大 | 心ブロック | 感覚運動ニューロパチー | 拘束性心筋症 | 温度覚障害 | 無汗症 | 異常な自律神経生理 | 疼痛 | 筋萎縮 | 筋虚弱 | 緑内障 | 胃不全麻痺 | 腎不全 | 腎症 | 腰椎脊椎管狭窄 | 腱破裂 | 自律神経性機能障害による起立性低血圧 | 足背屈筋虚弱 | 飛蚊症" ] }, { "id": "NANDO:2200369", "label_en": "Pseudohypoaldosteronism type II", "label_ja": "偽性低アルドステロン症II型", "yomigana": "ぎせいていあるどすてろんしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200369", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100133", "symptoms_en_list": [ "Abnormal dental enamel morphology | Abnormality of the dentition | Growth delay | Hyperkalemia | Hypertension | Muscle weakness | Nausea and vomiting | Periodic paralysis | Short stature" ], "symptoms_ja_list": [ "低身長 | 吐気と 嘔吐 | 周期性麻痺 | 成長遅滞 | 歯の異常 | 歯エナメル質異常 | 筋虚弱 | 高カリウム血症 | 高血圧" ] }, { "id": "NANDO:2200006", "label_en": "Acute myeloid leukemia with maturation", "label_ja": "成熟を伴う急性骨髄性白血病", "yomigana": "せいじゅくをともなうきゅうせいこつずいせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200006", "notificationNumber": "78", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200574", "label_en": "Neuronal migration defects", "label_ja": "神経細胞移動異常症", "yomigana": "しんけいさいぼういどういじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200574", "notificationNumber": "138", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200781", "label_en": "C2 deficiency", "label_ja": "C2 欠損症", "yomigana": "しー2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200781", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Purpura | Systemic lupus erythematosus" ], "symptoms_ja_list": [ "全身性紅斑性狼瘡 | 常染色体潜性遺伝 | 紫斑" ] }, { "id": "NANDO:2100089", "label_en": "Pulmonary venous obstruction", "label_ja": "肺静脈狭窄症", "yomigana": "はいじょうみゃくきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100089", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200254", "label_en": "Tetralogy of Fallot", "label_ja": "ファロー四徴症", "yomigana": "ふぁろーしちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200254", "notificationNumber": "89", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100075", "symptoms_en_list": [ "Abnormal nasal morphology | Autosomal dominant inheritance | Brachydactyly | Broad forehead | Clinodactyly of the 5th finger | Cryptorchidism | Dolichocephaly | Intrauterine growth retardation | Preauricular pit | Proptosis | Tetralogy of Fallot | Thin vermilion border | Underdeveloped supraorbital ridges" ], "symptoms_ja_list": [ "Fallot 四徴症 | 停留精巣 | 子宮内成長遅滞 | 常染色体顕性遺伝 | 幅広い額 | 異常な鼻形態 | 眼球突出 | 眼窩上縁未発達 | 短指症候群 | 第5指弯指 | 耳介前小孔 | 薄い唇紅部縁 | 長頭" ] }, { "id": "NANDO:1200242", "label_en": "Childhood generalized pustular psoriasis", "label_ja": "小児汎発性膿疱性乾癬", "yomigana": "しょうにはんぱつせいのうほうせいかんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200242", "notificationNumber": "37", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200019", "label_en": "Intermediate Charcot-Marie-Tooth disease", "label_ja": "中間型シャルコー・マリー・トゥース病", "yomigana": "ちゅうかんがたしゃるこー・まりー・とぅーすびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200019", "notificationNumber": "10", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201072", "label_en": "Cobblestone brain malformation", "label_ja": "敷石様皮質異形成", "yomigana": "しきいしようひしついけいせい", "url": "http://nanbyodata.jp/ontology/NANDO_1201072", "notificationNumber": "138", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200185", "label_en": "Unilateral moyamoya disease", "label_ja": "もやもや病（片側型）", "yomigana": "もやもやびょう（かたがわがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200185", "notificationNumber": "22", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200800", "label_en": "Thrombomodulin deficiency", "label_ja": "Thrombomodulin欠損症", "yomigana": "とろんぼもじゅりんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200800", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200628", "label_en": "Hemolytic anemia due to red cell pyruvate kinase deficiency", "label_ja": "ピルビン酸キナーゼ欠乏性貧血", "yomigana": "ぴるびんさんきなーぜけつぼうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200628", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [ "Abnormal erythrocyte morphology | Anemia | Anisocytosis | Autosomal recessive inheritance | Childhood onset | Cholecystitis | Cholelithiasis | Chronic hemolytic anemia | Congenital hemolytic anemia | Congenital onset | Elevated circulating iron concentration | Elevated transferrin saturation | Erythroid hyperplasia | Hepatomegaly | Hydrops fetalis | Increased circulating ferritin concentration | Increased red cell osmotic fragility | Intrauterine growth retardation | Jaundice | Nonimmune hydrops fetalis | Pallor | Poikilocytosis | Prolonged neonatal jaundice | Reticulocytosis | Splenomegaly | Unconjugated hyperbilirubinemia" ], "symptoms_ja_list": [ "トランスフェリン飽和上昇 | 不抱合型高ビリルビン血症 | 先天性溶血性貧血 | 子宮内成長遅滞 | 常染色体潜性遺伝 | 慢性溶血性貧血 | 異型赤血球増加症 | 網状赤血球増多症 | 肝腫 | 胆嚢炎 | 胆石症 | 胎児水腫 | 脾腫 | 蒼白 | 血清フェリチン増加 | 血清鉄増加 | 貧血 | 赤芽球系過形成 | 赤血球の異常 | 赤血球大小不同 | 赤血球浸透圧脆弱性の増加 | 遷延性新生児黄疸 | 非免疫性胎児水腫 | 黄疸" ] }, { "id": "NANDO:1200452", "label_en": "Ulcerative proctitis", "label_ja": "潰瘍性大腸炎（直腸炎型）", "yomigana": "かいようせいだいちょうえん（ちょくちょうえんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200452", "notificationNumber": "97", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201465", "label_en": "Long-segment Hirschsprung's disease", "label_ja": "左右結腸型ヒルシュスプルング病", "yomigana": "さゆうけっちょうがたひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201465", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100275", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Aganglionic megacolon | Constipation | Diarrhea | Enterocolitis | Failure to thrive in infancy | Feeding difficulties | Functional abnormality of the gastrointestinal tract | Growth delay | Intestinal obstruction | Nausea and vomiting | Polyhydramnios | Sepsis | Short stature | Weight loss" ], "symptoms_ja_list": [ "下痢 | 乳児期の成長障害 (成長不全) | 低身長 | 体重喪失 | 便秘 | 吐気と 嘔吐 | 小腸結腸炎 | 成長遅滞 | 敗血症 | 無神経節性巨大結腸 | 羊水過多 | 胃腸管機能異常 | 腸閉塞 | 腹痛 | 腹部膨満 | 食餌摂取障害" ] }, { "id": "NANDO:2200053", "label_en": "Ewing's sarcoma", "label_ja": "ユーイング肉腫", "yomigana": "ゆーいんぐにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200053", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Ewing sarcoma | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "Ewing 肉腫 | 体細胞モザイク" ] }, { "id": "NANDO:1200145", "label_en": "obsolete Danon disease", "label_ja": "obsolete ダノン病", "yomigana": "だのんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200145", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201230", "label_en": "Childhood-onset Pompe disease", "label_ja": "小児型ポンペ病", "yomigana": "しょうにがたぽんぺびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201230", "notificationNumber": "126", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200094", "label_en": "Hurler disease", "label_ja": "ハーラー病", "yomigana": "はーらーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200094", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal CNS myelination | Abnormal clavicle morphology | Abnormal diaphysis morphology | Abnormal epiphysis morphology | Abnormal heart valve morphology | Abnormal pyramidal sign | Abnormal rib morphology | Abnormal skin pigmentation | Abnormal vertebral morphology | Abnormality of the elbow | Abnormality of the skeletal system | Abnormality of the tonsils | Angina pectoris | Anteverted nares | Aortic regurgitation | Autosomal recessive inheritance | Biconcave vertebral bodies | Bilateral ptosis | Broad nasal tip | C1-C2 subluxation | Calvarial hyperostosis | Camptodactyly of finger | Cardiomyopathy | Cerebral palsy | Chronic diarrhea | Coarse facial features | Constrictive median neuropathy | Corneal opacity | Coxa valga | Cranial hyperostosis | Death in infancy | Depressed nasal bridge | Depression | Dermatan sulfate excretion in urine | Diaphyseal undertubulation | Dolichocephaly | Dysostosis multiplex | Endocardial fibroelastosis | Everted lower lip vermilion | Feeding difficulties | Flared iliac wing | Flexion contracture | Frontal bossing | Full cheeks | Generalized hirsutism | Gingival overgrowth | Glaucoma | Global developmental delay | Growth delay | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hepatosplenomegaly | Hernia | Hirsutism | Hydrocephalus | Hypertelorism | Hypertension | Hypoplasia of the femoral head | Hypoplasia of the odontoid process | Hypotonia | Inguinal hernia | Intellectual disability | J-shaped sella turcica | Joint stiffness | Kyphosis | Large face | Limitation of joint mobility | Macrocephaly | Macroglossia | Metaphyseal widening | Microdontia | Mitral regurgitation | Mucopolysacchariduria | Narrow pelvis bone | Neurodegeneration | Opacification of the corneal stroma | Progressive neurologic deterioration | Protuberant abdomen | Recurrent otitis media | Recurrent respiratory infections | Retinal degeneration | Retinopathy | Rhinitis | Scoliosis | Short clavicles | Short neck | Short stature | Skeletal dysplasia | Sleep disturbance | Spastic paraparesis | Spinal canal stenosis | Splenomegaly | Thick eyebrow | Thick vermilion border | Umbilical hernia | Urinary glycosaminoglycan excretion | Wide nasal bridge" ], "symptoms_ja_list": [ "C1-C2 亜脱臼 | J字型トルコ鞍 | うつ | ヘルニア | ムコ多糖症 | 上向きの鼻孔 | 下口唇唇紅部外反 | 両側性眼瞼下垂 | 両凹の椎体骨 | 両眼隔離 | 低身長 | 側弯 | 僧帽弁逆流 | 全般性発達遅滞 | 全身性多毛 | 分厚い唇紅部縁 | 分厚い眉毛 | 前頭突出", "額突出 | 反復性中耳炎 | 反復性呼吸器感染症 | 収縮性正中神経ニューロパチー | 外反股 | 多毛 | 多発性異骨症 | 大きな頬 | 大きな顔 | 大動脈逆流 | 大腿骨頭低形成 | 大頭 | 小歯 | 尿中グリコサミノグリカン排泄 | 尿中硫酸デルマタン排泄 | 尿中硫酸ヘパラン排泄 | 屈指 | 屈曲拘縮 | 巨舌 | 常染色体潜性遺伝 | 幅広い鼻尖 | 幅広い鼻梁 | 後弯 | 心内膜線維弾性症 | 心弁の異常 | 心筋症 | 慢性下痢 | 成長遅滞 | 扁桃の異常 | 歯状突起低形成 | 歯肉過成長 | 水頭症 | 狭い骨盤 | 狭心症 | 異常な中枢神経髄鞘形成 | 痙性対不全麻痺 | 皮膚色素の異常 | 睡眠障害 | 知的障害 | 短い鎖骨 | 短い頸部 | 神経変性 | 筋緊張低下 | 粗な顔貌 | 網膜変性 | 網膜症 | 緑内障 | 肋骨の異常 | 肘異常 | 肝脾腫 | 肝腫 | 脊椎の異常 | 脊椎管狭窄 | 脳性麻痺 | 脾腫 | 腸骨翼フレア | 腹部突出 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 角膜混濁 | 角膜間質混濁形成 | 進行性神経学的悪化 | 錐体路運動機能の異常 | 鎖骨の異常 | 長頭 | 関節拘縮 | 関節運動制限 | 難聴 | 頭蓋冠過骨症 | 頭蓋骨過骨症 | 食餌摂取障害 | 骨幹の肥厚 | 骨幹形態異常 | 骨幹端拡大 | 骨格の異常 | 骨格異形成 | 骨端の異常 | 高血圧 | 鼠径ヘルニア | 鼻炎" ] }, { "id": "NANDO:2200502", "label_en": "Glutaric acidemia type 2", "label_ja": "グルタル酸血症2型", "yomigana": "ぐるたるさんけつしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200502", "notificationNumber": "98", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "3-Methylglutaric aciduria | Abnormal facial shape | Abnormal heart morphology | Abnormal pinna morphology | Abnormality of the genital system | Abnormality of the skeletal system | Acidosis | Acute pancreatitis | Areflexia | Arrhythmia | Autosomal recessive inheritance | Cardiomyopathy | Cardiorespiratory arrest | Congestive heart failure | Decreased circulating carnitine concentration | Decreased liver function | Depressed nasal bridge | Developmental cataract | Difficulty climbing stairs | Dysphagia | Dyspnea | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | Elevated circulating creatine kinase activity | Elevated circulating glutaric acid concentration | Elevated circulating hepatic transaminase concentration | Encephalopathy | Ethylmalonic aciduria | Exercise intolerance | Exercise-induced muscle fatigue | Feeding difficulties | Generalized aminoaciduria | Gliosis | Glutaric aciduria | Glycosuria | Gray matter heterotopia | Hepatic periportal necrosis | Hepatic steatosis | Hepatomegaly | High forehead | Hyperammonemia | Hyperlordosis | Hypertrophic cardiomyopathy | Hypoglycemia | Hypoglycemic coma | Hypotonia | Inability to walk | Increased intramyocellular lipid droplets | Intermittent diarrhea | Jaundice | Juvenile onset | Lactic acidosis | Lacticaciduria | Macrocephaly | Metabolic acidosis | Methylmalonic aciduria | Muscle weakness | Myalgia | Nausea | Neonatal death | Pachygyria | Pancreatitis | Phenotypic abnormality | Polycystic kidney dysplasia | Poor head control | Proximal muscle weakness | Proximal tubulopathy | Pulmonary hypoplasia | Renal cortical cysts | Respiratory distress | Respiratory failure | Restrictive ventilatory defect | Reye syndrome-like episodes | Rhabdomyolysis | Scapular winging | Seizure | Skeletal muscle atrophy | Telecanthus | Vomiting | Wide anterior fontanel" ], "symptoms_ja_list": [ "3-メチルグルタル酸尿症 | Electron transfer flavoprotein-ubiquinone oxidoreductase 障害 | Reye 症様エピソード | うっ血性心不全 | アシドーシス | エチルマロン酸尿 | グルタル酸尿 | グルタル酸酸血症 | メチルマロン酸尿 | 不整脈 | 乳酸尿 | 乳酸性アシドーシス | 代謝性アシドーシス | 低血糖 | 低血糖性昏睡 | 先天性白内障 | 内眼角外方偏位 | 前弯 | 吐気 | 呼吸不全 | 呼吸困難 | 呼吸窮迫 | 嘔吐 | 嚥下障害 | 多嚢胞性腎異形成 | 大頭 | 尿糖 | 常染色体潜性遺伝 | 幅広い大泉門 | 心形態の異常 | 心筋症 | 心肺停止 | 急性膵炎 | 性器異常 | 拘束性肺疾患 | 横紋筋融解 | 歩行不能 | 汎アミノ酸尿 | 無反射 | 異常な顔の形 | 発作 | 神経膠症 | 筋痛 | 筋細胞内脂肪滴増加 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 組織異所発生 | 翼状肩甲骨 | 耳介の異常 | 肝トランスアミナーゼ上昇 | 肝機能低下 | 肝腫 | 肝門脈周囲壊死 | 肥大型心筋症 | 肺低形成 | 脂肪肝 | 脳回肥厚 | 脳症 | 腎皮質嚢胞 | 膵炎 | 落ちくぼんだ鼻梁 | 血清 creatine phosphokinase上昇 | 血漿カルニチン減少 | 近位筋虚弱 | 近位腎尿細管症 | 運動不耐症 | 運動誘発性筋疲労 | 間歇的下痢 | 階段の登り困難 | 頸定不全 | 食餌摂取障害 | 骨格の異常 | 高い額 | 高アンモニア血症 | 黄疸" ] }, { "id": "NANDO:2200717", "label_en": "Common variable immunodeficiency", "label_ja": "分類不能型免疫不全症", "yomigana": "ぶんるいふのうがためんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200717", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100205", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200838", "label_en": "Hepatic glycogen storage disease", "label_ja": "肝型糖原病", "yomigana": "かんがたとうげんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200838", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of the gastrointestinal tract | Autosomal recessive inheritance | Elevated circulating hepatic transaminase concentration | Failure to thrive | Fasting hypoglycemia | Global developmental delay | Glycosuria | Hyperlipidemia | Increased circulating lactate concentration | Irritability | Ketonuria | Ketosis | Ketotic hypoglycemia | Lethargy | Neonatal hypoglycemia | Postprandial hyperglycemia | Seizure | Short stature" ], "symptoms_ja_list": [ "ケトン尿 | ケトン性低血糖 | ケトン症 | 低身長 | 全般性発達遅滞 | 尿糖 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 新生児低血糖 | 無気力 | 発作 | 空腹時低血糖 | 肝トランスアミナーゼ上昇 | 胃腸管の異常 | 血清乳酸増加 | 被刺激性 | 食後高血糖 | 高脂血症" ] }, { "id": "NANDO:2200447", "label_en": "IL-10RA deficiency", "label_ja": "IL-10RA欠損症", "yomigana": "あいえる10あーるえーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200447", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Autosomal recessive inheritance | Colitis | Crohn's disease | Enterocolitis | Growth delay | Hematochezia | Oral ulcer | Perianal abscess | Pyoderma" ], "symptoms_ja_list": [ "Crohn 病 | 口腔潰瘍 | 小腸結腸炎 | 常染色体潜性遺伝 | 成長遅滞 | 結腸炎 | 肛門周囲膿瘍 | 膿皮症 | 血便排泄" ] }, { "id": "NANDO:2200881", "label_en": "Lafora disease", "label_ja": "ラフォラ病", "yomigana": "らふぉらびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200881", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100237", "symptoms_en_list": [ "Ataxia | Atonic seizure | Atypical absence seizure | Bilateral tonic-clonic seizure | Bilateral tonic-clonic seizure with focal onset | Brain atrophy | Confusion | Dementia | Depression | Dysarthria | Emotional lability | Focal impaired awareness seizure | Focal sensory seizure with visual features | Focal-onset seizure | Gait disturbance | Generalized myoclonic seizure | Generalized non-motor (absence) seizure | Giant somatosensory evoked potentials | Headache | Hepatic failure | Hypsarrhythmia | Inability to walk | Lafora bodies | Mental deterioration | Myoclonus | Recurrent aspiration pneumonia | Seizure | Severe photosensitivity | Sleep disturbance | Spasticity | Status epilepticus | Visual hallucination" ], "symptoms_ja_list": [ "Dementia | Lafora 小体 | うつ | てんかん重積 | ヒプスアリスミア | ミオクローヌス | 両側性けいれん発作 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 反復性誤嚥性肺炎 | 巨大身体感覚誘発電位 | 情動不安定 | 意識または覚醒障害を伴う焦点性発作 | 構音障害 | 欠神発作 | 歩行不能 | 歩行障害 | 焦点性発作 | 痙性 | 発作 | 睡眠障害 | 知能悪化 | 肝不全 | 脱力発作 | 脳萎縮 | 視覚的前兆 | 視覚的幻覚 | 運動失調 | 重度の光線過敏症 | 錯乱 | 非典型的欠伸発作 | 頭痛" ] }, { "id": "NANDO:2201006", "label_en": "Stevens-Johnson syndrome", "label_ja": "スティーヴンス・ジョンソン症候群", "yomigana": "すてぃーぶんす・じょんそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201006", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100290", "symptoms_en_list": [ "Abdominal pain | Abnormal blistering of the skin | Abnormal myocardium morphology | Abnormal pleura morphology | Abnormality of neutrophils | Abnormality of the urethra | Acantholysis | Acute hepatic failure | Anemia | Conjunctivitis | Corneal erosion | Cough | Diarrhea | Dysphagia | Dyspnea | Dysuria | Elevated circulating hepatic transaminase concentration | Entropion | Erythema | Esophageal stricture | Excessive salivation | Fatigue | Fever | Gastrointestinal hemorrhage | Hypokalemic metabolic alkalosis | Macule | Myocardial infarction | Nausea and vomiting | Pancreatitis | Photophobia | Recurrent respiratory infections | Renal insufficiency | Restrictive ventilatory defect | Sepsis | Sudden cardiac death | Thrombocytopenia | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "下痢 | 低カリウム血症性代謝性アルカロージス | 体重喪失 | 内反(眼瞼) | 反復性呼吸器感染症 | 吐気と 嘔吐 | 呼吸困難 | 嚥下障害 | 外層 | 好中球の異常 | 尿道異常 | 心筋の異常 | 心筋梗塞 | 急性肝不全 | 拘束性肺疾患 | 排尿障害 | 敗血症 | 斑 | 有棘細胞解離 | 異常な皮膚水泡 | 疲労 | 発熱 | 突然心臓死 | 紅斑 | 結膜炎 | 羞明 | 肝トランスアミナーゼ上昇 | 胃腸出血 | 胸膜の異常 | 腎不全 | 腹痛 | 膵炎 | 血小板減少 | 視力障害 | 角膜びらん | 誇張された唾液分泌 | 貧血 | 食道胸抱く" ] }, { "id": "NANDO:1200987", "label_en": "Beta-ketothiolase deficiency", "label_ja": "β-ケトチオラーゼ欠損症", "yomigana": "べーたけとちおらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200987", "notificationNumber": "322", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal metabolic brain imaging by MRS | Abnormality of mental function | Acidosis | Agitation | Anorexia | Apathy | Ataxia | Autosomal recessive inheritance | Coma | Cough | Dehydration | Diarrhea | Edema | Episodic ketoacidosis | Excessive daytime somnolence | Extrapyramidal dyskinesia | Fever | Hepatomegaly | Hyperammonemia | Hyperglycemia | Hypertension | Hyperuricemia | Hypoglycemia | Hyporeflexia | Hypotension | Hypotonia | Increased circulating lactate concentration | Increased total leukocyte count | Intellectual disability | Ketoacidosis | Ketonuria | Metabolic acidosis | Mild intellectual disability | Motor delay | Oral aversion | Pallor | Reduced consciousness | Seizure | Severe intellectual disability | Spasticity | Tachypnea | Thrombocytosis | Vomiting | Weight loss" ], "symptoms_ja_list": [ "MRSでの異常な代謝性脳画像 | アシドーシス | ケトアシドーシス | ケトアシドーシスエピソード | ケトン尿 | 下痢 | 不穏 | 代謝性アシドーシス | 低血圧 | 低血糖 | 体重喪失 | 反射低下 | 口嫌悪 | 嗜眠 | 嘔吐 | 外層 | 多呼吸 | 常染色体潜性遺伝 | 意識減少/混乱 | 昏睡 | 浮腫 | 無関心", "感情鈍磨 | 痙性 | 発作 | 発熱 | 白血球増多症 | 知的障害 | 知的障害", "軽度 | 知的障害", "重度 | 筋緊張低下 | 肝腫 | 脱水 | 蒼白 | 血小板増多症 | 血清乳酸増加 | 運動失調 | 運動発達遅滞 | 錐体外路ジスキネジア | 食思不振 | 高アンモニア血症 | 高尿酸血症 | 高次精神機能の異常 | 高血圧 | 高血糖" ] }, { "id": "NANDO:1200202", "label_en": "Subacute sclerosing panencephalitis presenting only with convulsion", "label_ja": "亜急性硬化性全脳炎（症状が痙攣のみの例）", "yomigana": "あきゅうせいこうかせいぜんのうえん（しょうじょうがけいれんのみのれい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200202", "notificationNumber": "24", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200289", "label_en": "Aortic arch occlusive disease", "label_ja": "大動脈弓閉塞症", "yomigana": "だいどうみゃくきゅうへいそくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200289", "notificationNumber": "56", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100099", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200770", "label_en": "Plasmalogen biosynthesis enzyme deficiency", "label_ja": "プラスマローゲン合成系酵素欠損症", "yomigana": "ぷらすまろーげんごうせいけいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200770", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200133", "label_en": "Glomerulopathy with fibronectin deposits, fibronectin nephropathy", "label_ja": "フィブロネクチン腎症", "yomigana": "ふぃぶろねくちんじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200133", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [ "Abnormal glomerular mesangium morphology | Cerebral hemorrhage | Glomerulopathy | Hypertension | Hypoalbuminemia | Microscopic hematuria | Nephrotic syndrome | Pedal edema | Proteinuria | Renal insufficiency" ], "symptoms_ja_list": [ "ネフローゼ症候群 | メサンギウム異常 | 大脳出血 | 浮腫 (下肢) | 糸球体症 | 腎不全 | 蛋白尿 | 顕微血尿 | 高アルブミン血症 | 高血圧" ] }, { "id": "NANDO:2201236", "label_en": "Non-nephropathic cystinosis ", "label_ja": "非腎型シスチン症", "yomigana": "ひじんがたしすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201236", "notificationNumber": "120", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal retinal morphology | Autosomal recessive inheritance | Corneal crystals | Elevated circulating creatinine concentration | Juvenile onset | Photophobia | Visual impairment | Young adult onset" ], "symptoms_ja_list": [ "常染色体潜性遺伝 | 網膜の異常 | 羞明 | 血清クレアチン症状 | 視力障害 | 角膜結晶" ] }, { "id": "NANDO:1200410", "label_en": "Allgrove syndrome", "label_ja": "Allgrove症候群", "yomigana": "おーるぐろーぶしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200410", "notificationNumber": "237", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormality of the hypothenar eminence | Abnormality of visual evoked potentials | Achalasia | Adrenal insufficiency | Adrenocorticotropin receptor defect | Alacrima | Anisocoria | Ataxia | Autosomal recessive inheritance | Babinski sign | Childhood onset | Corneal ulceration | Cough | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Developmental regression | Dysarthria | Failure to thrive in infancy | Feeding difficulties in infancy | Generalized hyperpigmentation | Global developmental delay | Hypernasal speech | Hyperpigmentation of the skin | Hyperreflexia | Hypoglycemia | Hypoglycemic seizures | Hypotension | Hypotonia | Increased circulating ACTH level | Intellectual disability | Juvenile onset | Keratoconjunctivitis sicca | Microcephaly | Motor axonal neuropathy | Muscle weakness | Optic atrophy | Orthostatic hypotension | Palmoplantar hyperkeratosis | Palmoplantar keratoderma | Pes cavus | Plantar hyperkeratosis | Progressive | Respiratory insufficiency | Sensorineural hearing impairment | Short stature | Visual impairment | Vomiting | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "Babinski サイン | アカラジア | 乳児期の成長障害 (成長不全) | 乾燥性 | 低アルドステロン症 | 低血圧 | 低血糖 | 低血糖性発作 | 低身長 | 体重喪失 | 全般性発達遅滞 | 全身性高色素 | 凹足 | 副腎不全 | 副腎皮質刺激ホルモン(ACTH) 受容体 (ACTHR) 障害 | 反射亢進 | 呼吸不全 | 嘔吐 | 外層 | 小指球隆起の異常 | 小頭 | 常染色体潜性遺伝 | 循環性ACTH 値増加 | 循環性コルチゾール値減少 | 感音難聴 | 掌蹠角皮症 | 掌蹠過角化症 | 構音障害 | 無涙症 | 異常な自律神経生理 | 発達退行 | 皮膚高色素 | 瞳孔左右不同症; | 知的障害 | 筋緊張低下 | 筋虚弱 | 視力障害 | 視神経萎縮 | 視覚誘発電位の異常 | 角膜潰瘍 | 起立性低血圧 | 足底過角化症 | 運動失調 | 運動性軸索ニューロパチー | 食餌摂取障害 in infancy | 鼻声発語" ] }, { "id": "NANDO:1200017", "label_en": "Charcot-Marie-Tooth disease type 1", "label_ja": "脱髄型シャルコー・マリー・トゥース病", "yomigana": "だつずいがたしゃるこー・まりー・とぅーすびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200017", "notificationNumber": "10", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200278", "label_en": "Mixed connective tissue disease", "label_ja": "混合性結合組織病", "yomigana": "こんごうせいけつごうそしきびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200278", "notificationNumber": "52", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal EKG | Abnormal pulmonary interstitial morphology | Alopecia | Anasarca | Arthralgia | Arthritis | Autoimmunity | Avascular necrosis | Chest pain | Decreased total leukocyte count | Depression | Dyspnea | Edema of the dorsum of hands | Elevated erythrocyte sedimentation rate | Erythema nodosum | Fatigue | Fever | Gastritis | Gastroesophageal reflux | Gastrointestinal hemorrhage | Headache | Hearing impairment | Hemolytic anemia | Hypoproteinemia | Increased circulating immunoglobulin concentration | Joint stiffness | Joint swelling | Keratoconjunctivitis sicca | Lymphadenopathy | Mediastinal lymphadenopathy | Membranous nephropathy | Myalgia | Myocarditis | Myositis | Nephropathy | Oral ulcer | Osteolysis | Pericardial effusion | Pericarditis | Peripheral neuropathy | Pleuritis | Prolonged bleeding time | Proteinuria | Psychosis | Pulmonary arterial hypertension | Pulmonary fibrosis | Purpura | Rheumatoid factor positive | Sclerodactyly | Scleroderma | Seizure | Skin rash | Splenomegaly | Telangiectasia | Thrombocytopenia | Trigeminal neuralgia | Xerostomia" ], "symptoms_ja_list": [ "うつ | リウマチ因子陽性 | リンパ節腫大 | 三叉神経痛 | 乾燥性 | 低タンパク血症 | 全身性浮腫 | 共通 | 口内乾燥症 | 口腔潰瘍 | 呼吸困難 | 強指症 | 強皮症 | 心外膜滲出液 | 心外膜炎 | 心筋炎 | 心電図異常 | 末梢神経ニューロパチー | 毛細血管拡張 | 浮腫 (手背) | 溶血性貧血 | 無菌性壊死 | 疲労 | 発作 | 発熱 | 白血球減少症 | 皮膚発疹 | 禿頭 | 筋炎 | 筋痛 | 精神病 | 紫斑 | 結節性紅斑 | 縦隔リンパ節腫大 | 肺線維症 | 肺高血圧 | 胃炎 | 胃腸出血 | 胃食道逆流 | 胸膜炎 | 脾腫 | 腎症 | 膜性腎症 | 自己免疫 | 蛋白尿 | 血小板減少 | 赤沈値上昇 | 遷出血時間遷延 | 間質性肺疾患 | 関節拘縮 | 関節炎 | 関節痛 | 関節腫脹 | 難聴 | 頭痛 | 骨融解 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2201283", "label_en": "p40phox-deficient chronic granulomatous disease", "label_ja": "p40phox欠損慢性肉芽腫症", "yomigana": "ぴー40ふぉっくすけっそんまんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201283", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Abdominal pain | Anoperineal fistula | Autosomal recessive inheritance | Childhood onset | Colitis | Diarrhea | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Perioral eczema | Recurrent aphthous stomatitis | Recurrent infections | Recurrent sinusitis" ], "symptoms_ja_list": [ "CRP 上昇 | 下痢 | 反復性アフタ性口内炎 | 反復性副鼻腔炎 | 反復性感染症 | 口周囲湿疹 | 常染色体潜性遺伝 | 結腸炎 | 肛門会陰部瘻 | 腹痛 | 赤沈値上昇" ] }, { "id": "NANDO:1200136", "label_en": "Schindler disease type 2", "label_ja": "シンドラー病II型", "yomigana": "しんどらーびょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200136", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal posterior periventricular white matter morphology | Adult onset | Aminoaciduria | Angiokeratoma corporis diffusum | Autosomal recessive inheritance | Cardiomegaly | Cerebral atrophy | Coarse facial features | Cognitive impairment | Depressed nasal bridge | Distal muscle weakness | Distal sensory impairment | Distal sensory impairment of all modalities | Dry skin | Hearing impairment | Hyperkeratosis | Increased urinary O-linked sialopeptides | Lip telangiectasia | Lymphedema | Mild intellectual disability | Opacification of the corneal stroma | Papule | Peripheral axonal neuropathy | Peripheral neuropathy | Petechiae | Sensorineural hearing impairment | Subcutaneous nodule | Telangiectasia of the oral mucosa | Telangiectasia of the skin | Thick lower lip vermilion | Thick vermilion border | Tinnitus | Tortuosity of conjunctival vessels | Vertigo" ], "symptoms_ja_list": [ "びまん性体部被角血管腫 | アミノ酸尿 | リンパ性浮腫 | 丘疹 | 乾いた皮膚 | 全感覚の遠位感覚障害 | 分厚い下口唇唇紅部 | 分厚い唇紅部縁 | 口唇毛細血管拡張 | 口腔粘膜毛細血管拡張 | 大脳萎縮 | 尿中 O-linked sialopeptides 増加 | 常染色体潜性遺伝 | 後部脳室周囲領域の白質異常 | 心拡大 | 感音難聴 | 末梢神経ニューロパチー | 末梢神経軸索ニューロパチー | 点状出血 | 皮下結節 | 皮膚毛細血管拡張 | 眩暈 | 知的障害", "軽度 | 粗な顔貌 | 結膜血管蛇行 | 耳鳴 | 落ちくぼんだ鼻梁 | 角膜間質混濁形成 | 認知障害 | 過角化症 | 遠位感覚障害 | 遠位筋虚弱 | 難聴" ] }, { "id": "NANDO:1200722", "label_en": "Focal segmental glomerulosclerosis", "label_ja": "巣状分節性糸球体硬化症", "yomigana": "そうじょうぶんせつせいしきゅうたいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200722", "notificationNumber": "222", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200039", "label_en": "Cortical cerebellar atrophy", "label_ja": "皮質性小脳萎縮症", "yomigana": "ひしつせいしょうのういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200039", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200919", "label_en": "Cyclic vomiting syndrome", "label_ja": "周期性嘔吐症候群", "yomigana": "しゅうきせいおうとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200919", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100258", "symptoms_en_list": [ "Abdominal pain | Anorexia | Ataxia | Attention deficit hyperactivity disorder | Autism | Cardiomyopathy | Childhood onset | Cognitive impairment | Exercise intolerance | Gastrointestinal dysmotility | Generalized hypotonia | Growth delay | Hearing impairment | Hypotonia | Intellectual disability | Lethargy | Microcephaly | Migraine | Mitochondrial inheritance | Motor delay | Muscle weakness | Nausea | Non-Mendelian inheritance | Pallor | Seizure | Strabismus | Vomiting" ], "symptoms_ja_list": [ "ミトコンドリア遺伝 | 偏頭痛 | 全身性筋緊張低下 | 吐気 | 嘔吐 | 多因子遺伝 | 小頭 | 心筋症 | 成長遅滞 | 斜視 | 注意力欠陥多動性疾患 | 無気力 | 発作 | 知的障害 | 筋緊張低下 | 筋虚弱 | 胃腸蠕動運動異常 | 腹痛 | 自閉症 | 蒼白 | 認知障害 | 運動不耐症 | 運動失調 | 運動発達遅滞 | 難聴 | 食思不振" ] }, { "id": "NANDO:1100005", "label_en": "Cardiovascular disease", "label_ja": "循環器系疾患", "yomigana": "じゅんかんきけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100005", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200516", "label_en": "3-hydroxy acyl-CoA dehydrogenase deficiency", "label_ja": "3-ヒドロキシアシルCoA脱水素酵素欠損症", "yomigana": "3ひどろきしあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200516", "notificationNumber": "45", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200488", "label_en": "Duchenne muscular dystrophy", "label_ja": "デュシェンヌ型筋ジストロフィー", "yomigana": "でゅしぇんぬがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200488", "notificationNumber": "113", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal EKG | Achilles tendon contracture | Arrhythmia | Calf muscle hypertrophy | Calf muscle pseudohypertrophy | Cardiomyopathy | Childhood onset | Cognitive impairment | Congestive heart failure | Delayed gross motor development | Delayed speech and language development | Difficulty climbing stairs | Dilated cardiomyopathy | Elevated circulating creatine kinase activity | Flexion contracture | Global developmental delay | Gowers sign | Hamstring contractures | Hyperlordosis | Hyporeflexia | Hypotonia | Hypoventilation | Knee flexion contracture | Loss of ambulation | Mild intellectual disability | Motor delay | Muscle weakness | Muscular dystrophy | Obstructive sleep apnea | Progressive muscle weakness | Proximal muscle weakness | Respiratory failure | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Restrictive ventilatory defect | Scoliosis | Skeletal muscle atrophy | Specific learning disability | Waddling gait | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Gowers サイン | X連鎖潜性遺伝 | うっ血性心不全 | よたつき歩行 | アキレス腱拘縮 | ハムストリング拘縮 | 不整脈 | 低換気 | 側弯 | 全般性発達遅滞 | 前弯 | 反射低下 | 呼吸不全 | 屈曲拘縮 | 心筋症 | 心電図異常 | 拘束性肺疾患 | 拡張型心筋症 | 特異的学習障害 | 発語および言語発達遅延 | 知的障害", "軽度 | 筋ジストロフィー | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 筋虚弱による呼吸不全 | 粗大運動発達遅延 | 腓腹筋仮性肥大 | 腓腹筋肥大 | 膝屈曲拘縮 | 血清 creatine phosphokinase上昇 | 認知障害 | 近位筋虚弱 | 進行性歩行不安定 | 進行性筋虚弱 | 運動発達遅滞 | 閉塞性睡眠時無呼吸 | 階段の登り困難" ] }, { "id": "NANDO:1200552", "label_en": "Acute encephalopathy with biphasic seizures and late reduced diffusion", "label_ja": "痙攣重積型（二相性）急性脳症", "yomigana": "けいれんじゅうせきがた（にそうせい）きゅうせいのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200552", "notificationNumber": "129", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal metabolic brain imaging by MRS | Bilateral tonic-clonic seizure | Complex febrile seizure | Hypointensity of cerebral white matter on MRI | Loss of consciousness | Takotsubo cardiomyopathy | Uncontrolled eye movements" ], "symptoms_ja_list": [ "MRIの大脳白質低輝度 | MRSでの異常な代謝性脳画像 | タコ壺心筋症 | 全身性間代性強直性発作 | 意識喪失 | 複雑型熱性けいれん | 調節不能の眼球運動" ] }, { "id": "NANDO:2201384", "label_en": "Other dystrophic epidermolysis bullosa", "label_ja": "栄養障害型表皮水疱症（その他）", "yomigana": "えいようしょうがいがたひょうひすいほうしょう（そのた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201384", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200593", "label_en": "Other disorders of vitamin metabolism", "label_ja": "120に掲げるもののほか、ビタミン代謝異常症", "yomigana": "120にかかげるもののほか、びたみんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200593", "notificationNumber": "74", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100169", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201151", "label_en": "Glycogen storage disease type 0a", "label_ja": "糖原病0a型", "yomigana": "とうげんびょう0えーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201151", "notificationNumber": "61", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormality of the gastrointestinal tract | Autosomal recessive inheritance | Elevated circulating hepatic transaminase concentration | Failure to thrive | Fasting hypoglycemia | Global developmental delay | Glycosuria | Hyperlipidemia | Increased circulating lactate concentration | Irritability | Ketonuria | Ketosis | Ketotic hypoglycemia | Lethargy | Neonatal hypoglycemia | Postprandial hyperglycemia | Seizure | Short stature" ], "symptoms_ja_list": [ "ケトン尿 | ケトン性低血糖 | ケトン症 | 低身長 | 全般性発達遅滞 | 尿糖 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 新生児低血糖 | 無気力 | 発作 | 空腹時低血糖 | 肝トランスアミナーゼ上昇 | 胃腸管の異常 | 血清乳酸増加 | 被刺激性 | 食後高血糖 | 高脂血症" ] }, { "id": "NANDO:2201088", "label_en": "Neonatal-onset carbamoyl phosphate synthetase deficiency", "label_ja": "新生児期発症型カルバミルリン酸合成酵素欠損症", "yomigana": "しんせいじきはっしょうがたかるばみるりんさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201088", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200239", "label_en": "Constrictive pericarditis", "label_ja": "収縮性心膜炎", "yomigana": "しゅうしゅくせいしんまくえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200239", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100064", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200912", "label_en": "Lipase deficiency", "label_ja": "リパーゼ欠損症", "yomigana": "りぱーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200912", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100254", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormality of the nervous system | Autosomal recessive inheritance | Colitis | Decreased circulating vitamin D concentration | Decreased circulating vitamin E concentration | Decreased circulating vitamin K concentration | Diarrhea | Edema | Elevated sweat chloride | Exocrine pancreatic insufficiency | Fat malabsorption | Fatigue | Growth delay | Hemeralopia | Hypocholesterolemia | Iron deficiency anemia | Keratoconjunctivitis sicca | Neonatal onset | Osteomalacia | Osteoporosis | Reduced circulating vitamin A concentration | Rickets | Steatorrhea | Weight loss" ], "symptoms_ja_list": [ "くる病 | ビタミンA欠乏症 | ビタミンD欠乏症 | ビタミンE欠乏症 | ビタミンK欠乏症 | 下痢 | 乾燥性 | 低コレステロール血症 | 体重喪失 | 外分泌性膵不全 | 常染色体潜性遺伝 | 成長遅滞 | 昼盲 | 汗中クロール上昇 | 浮腫 | 疲労 | 神経系の異常 | 結腸炎 | 脂肪便 | 脂肪吸収不全 | 腹痛 | 腹部膨満 | 鉄欠乏症貧血 | 骨粗鬆症 | 骨軟化症" ] }, { "id": "NANDO:2200754", "label_en": "obsolete Glycogen storage disease type 1b", "label_ja": "obsolete 糖原病Ib型", "yomigana": "とうげんびょう1びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2200754", "notificationNumber": "", "obsolete": 1, "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201200", "label_en": "Sandhoff disease", "label_ja": "サンドホフ病", "yomigana": "さんどほふびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201200", "notificationNumber": "119", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal glycosphingolipid metabolism | Abnormality of movement | Ataxia | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Blindness | CNS hypomyelination | Cardiomegaly | Cherry red spot of the macula | Chronic diarrhea | Coarse facial features | Congestive heart failure | Death in childhood | Developmental regression | Dysarthria | Episodic abdominal pain | Exaggerated startle response | Failure to thrive | Fasciculations | Full cheeks | Hearing impairment | Hepatomegaly | Hepatosplenomegaly | Hyperhidrosis | Hyperreflexia | Hypohidrosis | Hypotonia | Impaired temperature sensation | Impotence | Infantile onset | Kyphosis | Macrocephaly | Macroglossia | Motor deterioration | Muscle weakness | Orthostatic hypotension | Progressive psychomotor deterioration | Recurrent respiratory infections | Seizure | Skeletal dysplasia | Skeletal muscle atrophy | Spasticity | Splenomegaly | Upper motor neuron dysfunction | Urinary incontinence" ], "symptoms_ja_list": [ "うっ血性心不全 | インポテンス | グリコスフィンゴリピド 代謝の異常 | 中枢神経髄鞘形成低下 | 全身性間代性強直性発作 | 反射亢進 | 反復性呼吸器感染症 | 多汗 | 大きな頬 | 大頭 | 巨舌 | 常染色体潜性遺伝 | 後弯 | 心拡大 | 慢性下痢 | 成長障害 (成長不全) | 構音障害 | 減汗症 | 温度覚障害 | 痙性 | 発作 | 発達退行 | 皮質脊髄路機能障害 | 盲 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗な顔貌 | 線維束性収縮 | 肝脾腫 | 肝腫 | 脾腫 | 腹痛エピソード | 誇張された驚愕反応 | 起立性低血圧 | 進行性精神運動発達悪化 | 運動の異常 | 運動失調 | 運動発達悪化 | 遺尿 | 難聴 | 骨格異形成 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:1200947", "label_en": "Eosinophilic sinusitis", "label_ja": "好酸球性副鼻腔炎", "yomigana": "こうさんきゅうせいふくびくうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200947", "notificationNumber": "306", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200759", "label_en": "Peroxisome biogenesis disorders", "label_ja": "ペルオキシソーム形成異常症", "yomigana": "ぺるおきしそーむけいせいいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200759", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201268", "label_en": "Congenital erythropoietic porphyria", "label_ja": "先天性骨髄性ポルフィリン症", "yomigana": "せんてんせいこつずいせいぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201268", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100173", "symptoms_en_list": [ "Abnormal bleeding | Abnormal blistering of the skin | Abnormal circulating porphyrin concentration | Abnormality of the amniotic fluid | Absent eyebrow | Alopecia | Anisocytosis | Atypical scarring of skin | Autosomal recessive inheritance | Blindness | Cholelithiasis | Congenital onset | Conjunctivitis | Corneal scarring | Corneal ulceration | Cutaneous photosensitivity | Decreased circulating vitamin D concentration | Decreased total leukocyte count | Ectropion | Edema | Erythroid hyperplasia | Facial hypertrichosis | Fragile skin | Hemolytic anemia | Hepatomegaly | Hyperpigmentation of the skin | Hypertrichosis | Hypopigmentation of the skin | Increased connective tissue | Increased erythrocyte protoporphyrin concentration | Increased urinary porphobilinogen | Jaundice | Joint contracture of the hand | Keratoconjunctivitis | Loss of eyelashes | Neoplasm of the skin | Nonimmune hydrops fetalis | Osteolysis | Osteopenia | Osteoporosis | Paresthesia | Pathologic fracture | Poikilocytosis | Porphyrinuria | Pruritus | Recurrent bacterial skin infections | Reticulocytosis | Scarring | Scarring alopecia of scalp | Scleritis | Scleroderma | Severe photosensitivity | Short stature | Skin erosion | Splenomegaly | Squamous cell carcinoma | Thickened skin | Thrombocytopenia | Unconjugated hyperbilirubinemia | Vertebral compression fracture" ], "symptoms_ja_list": [ "ビタミンD欠乏症 | ヘム生合成経路の異常 | ポルフィリン尿 | 不抱合型高ビリルビン血症 | 低身長 | 分厚い皮膚 | 反復性細菌性皮膚感染症 | 基底細胞癌 | 外反(眼瞼) | 多毛症 | 尿中ポルホビリノーゲン増加 | 常染色体潜性遺伝 | 強皮症 | 感覚異常 | 手関節拘縮 | 掻痒 | 浮腫 | 溶血性貧血 | 異型赤血球増加症 | 異常な出血 | 異常な皮膚水泡 | 病的骨折 | 瘢痕 | 白血球減少症 | 皮膚びらん | 皮膚低色素 | 皮膚光線過敏症 | 皮膚新生物 | 皮膚高色素 | 盲 | 眉毛欠損 | 睫毛喪失 | 禿頭 | 結合織増加 | 結膜炎 | 網状赤血球増多症 | 羊水の異常 | 肝腫 | 胆石症 | 胸膜炎 | 脆い皮膚 | 脊椎圧迫骨折 | 脾腫 | 血小板減少 | 角結膜炎 | 角膜潰瘍 | 角膜瘢痕 | 赤芽球系過形成 | 赤血球プロトポルフィリン濃度増加 | 赤血球大小不同 | 重度の光線過敏症 | 非免疫性胎児水腫 | 非典型的皮膚瘢痕 | 頭皮の瘢痕性禿頭 | 顔面多毛症 | 骨減少症 | 骨粗鬆症 | 骨融解 | 黄疸" ] }, { "id": "NANDO:2200368", "label_en": "Pseudohypoaldosteronism type I", "label_ja": "偽性低アルドステロン症I型", "yomigana": "ぎせいていあるどすてろんしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200368", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100133", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201422", "label_en": "Linear scleroderma", "label_ja": "線状強皮症", "yomigana": "せんじょうきょうひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201422", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100304", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200554", "label_en": "Mannosidosis", "label_ja": "マンノシドーシス", "yomigana": "まんのしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200554", "notificationNumber": "128", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200685", "label_en": "Paternal uniparental disomy of chromosome 14", "label_ja": "第14番染色体父親性ダイソミー症候群", "yomigana": "だい14ばんせんしょくたいちちおやせいだいそみーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200685", "notificationNumber": "200", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal aortic arch morphology | Abnormal distal phalanx morphology of finger | Abnormal facial shape | Abnormality of the costochondral junction | Abnormality of the skeletal system | Absent glenoid fossa | Adducted thumb | Anterior rib cupping | Anteverted nares | Atrial septal defect | Autosomal dominant inheritance | Avascular peripheral retina | Bell-shaped thorax | Blepharophimosis | Broad distal phalanx of finger | Camptodactyly | Chin with H-shaped crease | Chin with horizontal crease | Coat hanger sign of ribs | Coxa valga | Cryptorchidism | Cutis laxa | Deep philtrum | Deeply set eye | Depressed nasal bridge | Diastasis recti | Drooling | Epicanthus | Epiphyseal stippling | External genital hypoplasia | Feeding difficulties | Flexion contracture | Frontal bossing | Frontal hirsutism | Gastrostomy tube feeding in infancy | Generalized hypotonia | Global developmental delay | Growth delay | Hemivertebrae | Hepatoblastoma | Hepatomegaly | Hepatosplenomegaly | Hernia of the abdominal wall | Hoarse cry | Hypertrophic cardiomyopathy | Hypoplasia of the maxilla | Hypoplastic ilia | Hypoplastic iliac wing | Hypoplastic nipples | Hypoplastic scapulae | Hypotonia | Inguinal hernia | Interphalangeal joint contracture of finger | Intrauterine growth retardation | Inverted nipples | Kyphoscoliosis | Large for gestational age | Large placenta | Laryngomalacia | Limb undergrowth | Lissencephaly | Long clavicle | Long fingers | Long philtrum | Macroglossia | Mandibular prognathia | Metaphyseal spurs | Metatarsus adductus | Microcephaly | Micrognathia | Microtia | Miscarriage | Moderate global developmental delay | Narrow chest | Narrow mouth | Omphalocele | Overgrowth | Patent ductus arteriosus | Pectus excavatum | Plagiocephaly | Polyhydramnios | Posteriorly rotated ears | Postnatal growth retardation | Premature birth | Prominent calcaneus | Prominent glabella | Prominent sternum | Protuberant abdomen | Pulmonary arterial hypertension | Pulmonary artery stenosis | Pulmonary hypoplasia | Pulmonic stenosis | Redundant neck skin | Respiratory failure | Restrictive ventilatory defect | Retrognathia | Sclerosis of skull base | Scoliosis | Seizure | Severe global developmental delay | Short 1st metacarpal | Short femoral neck | Short neck | Short palpebral fissure | Short philtrum | Short ribs | Short stature | Short tibia | Single transverse palmar crease | Small nail | Small proximal tibial epiphyses | Spinal dysraphism | Splenomegaly | Sporadic | Tented upper lip vermilion | Thick vermilion border | Thin ribs | Thoracic hypoplasia | Thumb contracture | Tibial bowing | Ulnar deviation of the wrist | Undulate ribs | Upper limb undergrowth | Ventricular septal defect | Wide anterior fontanel | Wide intermamillary distance | Wide nasal bridge | Wide nose | Wormian bones" ], "symptoms_ja_list": [ "H字型ヒダを伴う下顎 | ウォルム氏骨 | テント状上口唇唇紅部 | ベル型胸 | 上向きの鼻孔 | 上肢成長不全 | 上顎低形成 | 下顎後退 | 下顎突出 | 中等度の全般性発達遅滞 | 乳児期の胃瘻管栄養 | 乳頭低形成 | 低身長 | 停留精巣 | 側弯 | 全般性発達遅滞 | 全身性筋緊張低下 | 内眼角贅皮 | 内転中足骨 | 内転母指 | 分厚い唇紅部縁 | 前方肋骨カッピング | 前頭突出", "額突出 | 前頭部多毛 | 動脈管開存症 | 半脊椎 | 呼吸不全 | 喉頭軟化症 | 四肢成長不全 | 在胎月齢より大きい児 | 外反股 | 外性器低形成 | 大きな骨盤 | 大動脈弓の異常 | 子宮内成長遅滞 | 孤発性 | 小さい爪 | 小さい近位脛骨骨端 | 小耳 | 小頭 | 小顎 | 屈指 | 屈曲拘縮 | 巨舌 | 常染色体顕性遺伝 | 幅広い乳頭間距離 | 幅広い大泉門 | 幅広い指末節骨 | 幅広い鼻 | 幅広い鼻梁 | 弛緩性皮膚 | 後側弯 | 心室中隔欠損 | 心房中隔欠損 | 成長遅滞 | 手掌横線 | 手関節の尺側偏位 | 拘束性肺疾患 | 指の末節骨の異常 | 指間(IP)関節拘縮 | 斜頭 | 早産 | 末梢網膜無血管化 | 母指屈曲拘縮 | 水平のヒダを伴う下顎 | 波打つ肋骨 | 流涎 | 深い人中 | 滑脳症 | 漏斗胸 | 狭い口 | 狭い胸郭 | 生後の成長遅滞 | 異常な顔の形 | 発作 | 目立つ眉間 | 目立つ胸骨 | 眼瞼裂狭小 | 短い人中 | 短い大腿骨頸部 | 短い眼瞼裂 | 短い第1中手骨 | 短い肋骨 | 短い脛骨 | 短い頸部 | 筋緊張低下 | 粗い泣き声 | 細い肋骨 | 羊水過多 | 耳介後方回転 | 肋軟骨接合部異常 | 肋骨のコートハンガーサイン | 肝脾腫 | 肝腫 | 肝芽腫 | 肥大型心筋症 | 肩甲骨低形成 | 肩甲骨関節窩欠損 | 肺低形成 | 肺動脈狭窄 | 肺高血圧 | 胸郭低形成 | 脊椎破裂 | 脛骨湾曲 | 脾腫 | 腸骨低形成 | 腸骨翼低形成 | 腹壁ヘルニア | 腹直筋離開 | 腹部突出 | 臍帯ヘルニア | 自然流産 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 豊富な頸部皮膚 | 踵骨突出 | 逆位乳頭 | 過成長 | 重度の全般性発達遅滞 | 長い人中 | 長い指 | 長い鎖骨 | 頭蓋底硬化症 | 食餌摂取障害 | 骨幹端棘 | 骨格の異常 | 骨端点状石灰化 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200434", "label_en": "Blau syndrome, early onset sarcoidosis", "label_ja": "ブラウ症候群", "yomigana": "ぶらうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200434", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abnormal choroid morphology | Abnormal cranial nerve morphology | Abnormal inflammatory response | Abnormal optic nerve morphology | Abnormal retinal vascular morphology | Abnormal salivary gland morphology | Abnormality of the ear | Abnormality of the liver | Anemia | Aortic aneurysm | Arthralgia | Arthritis | Autosomal dominant inheritance | Band keratopathy | Camptodactyly of finger | Cataract | Clear cell renal cell carcinoma | Cystoid macular edema | Dry skin | Dyspnea | Eczematoid dermatitis | Erythema | Erythema nodosum | Facial palsy | Fever | Flexion contracture of toe | Glaucoma | Hyperpigmentation of the skin | Hypertension | Ichthyosis | Intermittent generalized erythematous papular rash | Iridocyclitis | Iritis | Joint swelling | Keratitis | Large vessel vasculitis | Limitation of joint mobility | Lymphadenopathy | Nephropathy | Nongranulomatous uveitis | Papule | Pericarditis | Photophobia | Polyarticular arthritis | Posterior uveitis | Pulmonary arterial hypertension | Retinopathy | Retrobulbar optic neuritis | Skin rash | Skin ulcer | Splenomegaly | Stage 5 chronic kidney disease | Synovitis | Uveitis | Visual loss | Xerostomia" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | ブドウ膜炎 | リンパ節腫大 | 丘疹 | 乾いた皮膚 | 口内乾燥症 | 呼吸困難 | 唾液腺の異常 | 多関節関節炎 | 大動脈瘤 | 大血管血管炎 | 屈指 | 帯状角膜症 | 常染色体顕性遺伝 | 後部ブドウ膜炎 | 心外膜炎 | 湿疹 | 滑膜炎 | 異常な炎症反応 | 発熱 | 白内障 | 皮膚潰瘍 | 皮膚発疹 | 皮膚高色素 | 眼球後部視神経炎 | 紅斑 | 結節性紅斑 | 網膜症 | 網膜血管の異常 | 緑内障 | 羞明 | 耳の異常 | 肝の異常 | 肺高血圧 | 脈絡膜の異常 | 脳神経の異常 | 脾腫 | 腎明細胞癌 | 腎症 | 虹彩毛様体炎 | 虹彩炎 | 視力喪失 | 視神経の異常 | 角膜炎 | 貧血 | 趾屈曲拘縮 | 間歇的全身性紅斑性丘疹 | 関節炎 | 関節痛 | 関節腫脹 | 関節運動制限 | 非肉芽腫性ブドウ膜炎 | 顔面麻痺 | 類嚢胞性黄斑浮腫 | 高血圧 | 魚鱗癬" ] }, { "id": "NANDO:2200578", "label_en": "Other peroxisomal diseases", "label_ja": "103から105までに掲げるもののほか、ペルオキシソーム病", "yomigana": "103から105までにかかげるもののほか、ぺるおきしそーむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200578", "notificationNumber": "84", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201165", "label_en": "Glycogen storage disease type IXb", "label_ja": "糖原病IXb型", "yomigana": "とうげんびょう9びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201165", "notificationNumber": "69", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Anemia | Autosomal recessive inheritance | Childhood onset | Cirrhosis | Delayed gross motor development | Delayed speech and language development | Diarrhea | Dysmenorrhea | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Exercise intolerance | Fasting hypoglycemia | Fatigue | Growth delay | Hepatic fibrosis | Hepatocellular adenoma | Hepatocellular carcinoma | Hepatomegaly | Hypercholesterolemia | Hypertriglyceridemia | Hyperuricemia | Hypoglycemia | Hypotonia | Increased body weight | Increased hepatic glycogen content | Increased muscle glycogen content | Infantile onset | Irregular menstruation | Ketotic hypoglycemia | Lactic acidosis | Limb-girdle muscle weakness | Mild global developmental delay | Muscle spasm | Muscle weakness | Myalgia | Myoglobinuria | Nausea | Oligomenorrhea | Osteoporosis | Pelvic girdle muscle weakness | Polycystic ovaries | Postnatal growth retardation | Progressive muscle weakness | Recurrent hypoglycemia | Recurrent infections | Renal tubular acidosis | Rhabdomyolysis | Short stature | Skeletal muscle atrophy | Splenomegaly | Vomiting" ], "symptoms_ja_list": [ "ケトン性低血糖 | ミオグロビン尿 | 下痢 | 乳酸性アシドーシス | 低血糖 | 低身長 | 体重増加 | 反復性低血糖 | 反復性感染症 | 吐気 | 嘔吐 | 多嚢胞性卵巣 | 希発月経 | 常染色体潜性遺伝 | 成長遅滞 | 月経不純 | 月経困難 | 横紋筋融解 | 生後の成長遅滞 | 疲労 | 発語および言語発達遅延 | 空腹時低血糖 | 筋けいれん | 筋グリコーゲン量増加 | 筋痛 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗大運動発達遅延 | 肝グリコーゲン量増加 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝細胞癌 | 肝細胞腺腫 | 肝線維症 | 肝腫 | 肢帯筋虚弱 | 脾腫 | 腎尿細管アシドーシス | 血清 creatine phosphokinase上昇 | 貧血 | 軽度の全般性発達遅滞 | 進行性筋虚弱 | 運動不耐症 | 骨盤帯筋筋虚弱 | 骨粗鬆症 | 高コレステロール血症 | 高トリグリセリド血症 | 高尿酸血症 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2200701", "label_en": "MHC class I deficiency", "label_ja": "MHCクラスI欠損症", "yomigana": "えむえいちしーくらす1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200701", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100203", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200305", "label_en": "Autoimmune hemolytic anemia", "label_ja": "自己免疫性溶血性貧血", "yomigana": "じこめんえきせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200305", "notificationNumber": "61", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Autoimmune hemolytic anemia | Autosomal recessive inheritance" ], "symptoms_ja_list": [ "代謝/ホメオスターシスの異常 | 常染色体潜性遺伝 | 自己免疫性溶血性貧血" ] }, { "id": "NANDO:2100118", "label_en": "Cerebral salt wasting syndrome", "label_ja": "中枢性塩喪失症候群", "yomigana": "ちゅうすうせいえんそうしつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100118", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200022", "label_en": "Multiple sclerosis/Neuromyelitis optica spectrum disorders", "label_ja": "多発性硬化症／視神経脊髄炎", "yomigana": "たはつせいこうかしょう／ししんけいせきずいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200022", "notificationNumber": "13", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200143", "label_en": "Renal arteriovenous fistula", "label_ja": "腎動静脈瘻", "yomigana": "じんどうじょうみゃくろう", "url": "http://nanbyodata.jp/ontology/NANDO_2200143", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100018", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201474", "label_en": "Idiopathic portal hypertension", "label_ja": "特発性門脈圧亢進症", "yomigana": "とくはつせいもんみゃくあつこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201474", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100269", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200121", "label_en": "IgA nephropathy", "label_ja": "IgA腎症", "yomigana": "あいじーえーじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200121", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [ "Acute kidney injury | Ascites | Celiac disease | Cirrhosis | Facial edema | Glomerulonephritis | Hypertension | IgA deposition in the glomerulus | Increased circulating IgA concentration | Macroscopic hematuria | Microscopic hematuria | Mild proteinuria | Nephrotic range proteinuria | Renal insufficiency" ], "symptoms_ja_list": [ "IgA 値増加 | IgA 沈着 (糸球体) | セリアック秒 | ネフローゼ範囲の蛋白尿 | 急性腎外傷 | 糸球体腎炎 | 肉眼的血尿 | 肝硬変 | 腎不全 | 腹水 | 軽度の蛋白尿 | 顔面浮腫 | 顕微血尿 | 高血圧" ] }, { "id": "NANDO:1200524", "label_en": "Rapid-onset dystonia-parkinsonism", "label_ja": "急性発症ジストニア・パーキンソニズム", "yomigana": "きゅうせいはっしょうじすとにあ・ぱーきんそにずむ", "url": "http://nanbyodata.jp/ontology/NANDO_1200524", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Anxiety | Autosomal dominant inheritance | Bradykinesia | Bulbar signs | Cerebellar atrophy | Childhood onset | Craniofacial dystonia | Depression | Drooling | Dysarthria | Dysphagia | Dystonia | Emotional lability | Gait ataxia | Generalized hypotonia | Hypomimic face | Juvenile onset | Limb dystonia | Motor delay | Mutism | Parkinsonism | Postural instability | Resting tremor | Seizure | Torticollis | Tremor | Typified by incomplete penetrance | Unsteady gait | Young adult onset" ], "symptoms_ja_list": [ "うつ | ジストニア | パーキンソン症候群 | 不安 | 不安定歩行 | 仮面顔 | 全身性筋緊張低下 | 嚥下障害 | 四肢ジストニア | 姿勢不安定 | 安静時振戦 | 小脳萎縮 | 常染色体顕性遺伝 | 情動不安定 | 振戦 | 斜頚 | 構音障害 | 歩行失調 | 流涎 | 無言症 | 球症状 | 発作 | 運動発達遅滞 | 運動緩徐 | 頭蓋顔面ジストニア" ] }, { "id": "NANDO:2200624", "label_en": "Sickle cell disease", "label_ja": "鎌状赤血球症", "yomigana": "かまじょうせっけっきゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200624", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [ "Abdominal pain | Abnormality of the nervous system | Abnormality of the spleen | Abnormality of the vasculature | Autosomal recessive inheritance | Avascular necrosis | Cardiomegaly | Chest pain | Cholelithiasis | Chronic hemolytic anemia | Chronic kidney disease | Elevated circulating creatinine concentration | Hematuria | Hemolytic anemia | Hepatomegaly | Hypertension | Hyphema | Hypochromic anemia | Hypoxemia | Increased mean corpuscular volume | Increased red cell sickling tendency | Increased total leukocyte count | Intrahepatic cholestasis | Iron deficiency anemia | Ischemic stroke | Jaundice | Microcytic anemia | Osteomyelitis | Osteoporosis | Pain | Persistence of hemoglobin F | Pigment gallstones | Priapism | Pulmonary arterial hypertension | Recurrent bacterial infections | Recurrent infections | Renal insufficiency | Reticulocytosis | Retinopathy | Skin ulcer | Splenomegaly | Stroke | Thrombocytosis | Unconjugated hyperbilirubinemia" ], "symptoms_ja_list": [ "ヘモグロビン F 持続 | 不抱合型高ビリルビン血症 | 低色素性貧血 | 低酸素血症への感受性の減少 | 共通 | 前房出血 | 卒中 | 反復性感染症 | 反復性細菌感染症 | 小球性貧血 | 巨大赤血球症 | 常染色体潜性遺伝 | 心拡大 | 慢性溶血性貧血 | 慢性腎疾患 | 持続勃起症 | 溶血性貧血 | 無菌性壊死 | 疼痛 | 白血球増多症 | 皮膚潰瘍 | 神経系の異常 | 網状赤血球増多症 | 網膜症 | 肝内胆汁うっ滞 | 肝腫 | 肺高血圧 | 胆石症 | 脾の異常 | 脾腫 | 腎不全 | 腹痛 | 色素性胆石 | 虚血卒中 | 血小板増多症 | 血尿 | 血清クレアチン症状 | 血管の異常 | 赤血球鎌状化傾向の増加 | 鉄欠乏症貧血 | 骨粗鬆症 | 骨髄炎 | 高血圧 | 黄疸" ] }, { "id": "NANDO:2201189", "label_en": "Alpha-mannosidosis, adult form", "label_ja": "若年成人型α - マンノシドーシス", "yomigana": "じゃくねんせいじんがたあるふぁまんのしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201189", "notificationNumber": "128", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Anxiety | Aortic regurgitation | Ataxia | Atypical behavior | Cataract | Cerebellar atrophy | Cerebral cortical atrophy | Clumsiness | Confusion | Corneal opacity | Delayed speech and language development | Delusion | Depression | Drowsiness | Hallucinations | Hepatosplenomegaly | Immunodeficiency | Macroglossia | Mild intellectual disability | Mixed hearing impairment | Myopia | Oligosacchariduria | Optic disc pallor | Osteopenia | Pancytopenia | Pneumonia | Recurrent infections | Subcortical cerebral atrophy" ], "symptoms_ja_list": [ "うつ | オリゴ糖尿 | 不器用 | 不安 | 免疫不全 | 反復性感染症 | 大動脈逆流 | 大脳皮質萎縮 | 妄想 | 小脳萎縮 | 巨舌 | 幻覚 | 汎血球減少症 | 混合性難聴 | 発語および言語発達遅延 | 白内障 | 皮質下 大脳萎縮 | 眠気 | 知的障害", "軽度 | 肝脾腫 | 肺炎 | 行動異常 | 視神経杯蒼白 | 角膜混濁 | 近視 | 運動失調 | 錯乱 | 骨減少症" ] }, { "id": "NANDO:1200859", "label_en": "Generalized congenital lipodystrophy", "label_ja": "先天性全身性脂肪萎縮症", "yomigana": "せんてんせいぜんしんせいしぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200859", "notificationNumber": "265", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal facial shape | Acanthosis nigricans | Accelerated skeletal maturation | Adipose tissue loss | Amenorrhea | Bone cyst | Cirrhosis | Clitoral hypertrophy | Congestive heart failure | Diabetes mellitus | Failure to thrive | Global developmental delay | Hepatic steatosis | Hepatomegaly | Hypercholesterolemia | Hyperinsulinemia | Hypertrichosis | Hypertriglyceridemia | Hypertrophic cardiomyopathy | Insulin resistance | Intellectual disability | Large hands | Lipodystrophy | Long foot | Low anterior hairline | Low posterior hairline | Macroglossia | Mandibular prognathia | Oligomenorrhea | Overgrowth of external genitalia | Polycystic ovaries | Precocious puberty in females | Prominent superficial veins | Prominent supraorbital ridges | Proportionate tall stature | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "うっ血性心不全 | インスリン抵抗性 | リポジストロフィー | 下顎突出 | 不均衡型高身長 | 低い前部毛髪線 | 全般性発達遅滞 | 外性器過成長 | 多嚢胞性卵巣 | 多毛症 | 大きな手 | 女性での思春期早発 | 巨舌 | 希発月経 | 後部毛髪線低位 | 成長障害 (成長不全) | 無月経 | 異常な顔の形 | 目立つ眼窩上縁 | 目立つ表面静脈 | 知的障害 | 筋肥大 | 糖尿病 | 肝硬変 | 肝腫 | 肥大型心筋症 | 脂肪組織喪失 | 脂肪肝 | 長い足 | 陰核肥大 | 骨嚢胞 | 骨成熟促進 | 高インスリン血症 | 高コレステロール血症 | 高トリグリセリド血症 | 黒色表皮腫" ] }, { "id": "NANDO:2201215", "label_en": "Heterozygous Fabry disease", "label_ja": "ファブリー病顕性ヘテロ接合体", "yomigana": "ふぁぶりーびょうけんせいへてろせつごうたい", "url": "http://nanbyodata.jp/ontology/NANDO_2201215", "notificationNumber": "124", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100110", "label_en": "Hypopituitarism", "label_ja": "下垂体機能低下症", "yomigana": "かすいたいきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100110", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100086", "label_en": "Complete atrioventricular septal defect", "label_ja": "完全型房室中隔欠損症", "yomigana": "かんぜんがたぼうしつちゅうかくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100086", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100302", "label_en": "Vitamine B6-dependent epilepsy", "label_ja": "ビタミンB6依存性てんかん", "yomigana": "びたみんびー6いぞんせいてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100302", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200478", "label_en": "Carbamoylphosphate synthetase deficiency", "label_ja": "カルバミルリン酸合成酵素欠損症", "yomigana": "かるばみるりんさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200478", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Aminoaciduria | Ataxia | Autosomal recessive inheritance | Cerebral edema | Coma | Episodic ammonia intoxication | Failure to thrive | Global developmental delay | Hyperammonemia | Hypoargininemia | Hypotonia | Intellectual disability | Irritability | Lethargy | Low plasma citrulline | Neonatal onset | Protein avoidance | Respiratory alkalosis | Respiratory insufficiency | Seizure | Stroke | Vomiting" ], "symptoms_ja_list": [ "アミノ酸尿 | アンモニア中毒エピソード | 低アルギニン血症 | 全般性発達遅滞 | 卒中 | 呼吸不全 | 嘔吐 | 大脳浮腫 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 昏睡 | 活性減少アルカローシス | 無気力 | 発作 | 知的障害 | 筋緊張低下 | 蛋白回避 | 血症シトルリン低値 | 被刺激性 | 運動失調 | 高アンモニア血症" ] }, { "id": "NANDO:2100165", "label_en": "Lysosomal storage disease", "label_ja": "ライソゾーム病", "yomigana": "らいそぞーむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100165", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200835", "label_en": "Glycogen storage diseases type XIII", "label_ja": "筋型糖原病XIII型", "yomigana": "きんがたとうげんびょう13がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200835", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Adult onset | Autosomal recessive inheritance | Elevated circulating creatine kinase activity | Exercise intolerance | Increased muscle glycogen content | Myalgia" ], "symptoms_ja_list": [ "常染色体潜性遺伝 | 筋グリコーゲン量増加 | 筋痛 | 血清 creatine phosphokinase上昇 | 運動不耐症" ] }, { "id": "NANDO:2200040", "label_en": "Neuroblastoma", "label_ja": "神経芽腫", "yomigana": "しんけいがしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200040", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abdominal distention | Abnormal bleeding | Abnormality of coagulation | Anemia | Anemic pallor | Ataxia | Bone pain | Chronic diarrhea | Elevated circulating catecholamine level | Elevated urinary catecholamine level | Elevated urinary homovanillic acid | Elevated urinary vanillylmandelic acid | Fatigue | Fever | Horner syndrome | Hypertension | Increased circulating ferritin concentration | Irritability | Lymphadenopathy | Myoclonus | Neoplasm of the nervous system | Neuroblastoma | Opsoclonus | Pathologic fracture | Proptosis | Respiratory distress | Spinal cord compression | Subcutaneous nodule | Thrombocytopenia | Weight loss" ], "symptoms_ja_list": [ "Horner 症候群 | ミオクローヌス | リンパ節腫大 | 体重喪失 | 凝固の異常 | 呼吸窮迫 | 尿中カテコラミン上昇 | 尿中バニリルマンデル酸上昇 | 尿中ホモバニリン酸上昇 | 循環性カテコラミン値上昇 | 慢性下痢 | 異常な出血 | 疲労 | 病的骨折 | 発熱 | 皮下結節 | 眼球クローヌス | 眼球突出 | 神経新生物 | 神経芽腫 | 脊髄圧迫 | 腹部膨満 | 血小板減少 | 血清フェリチン増加 | 被刺激性 | 貧血 | 貧血性蒼白 | 運動失調 | 骨痛 | 高血圧" ] }, { "id": "NANDO:2200498", "label_en": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency", "label_ja": "3-ヒドロキシ-3-メチルグルタリルCoA合成酵素欠損症", "yomigana": "3ひどろきし3めちるぐるたりるこえーごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200498", "notificationNumber": "101", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Autosomal recessive inheritance | Childhood onset | Coma | Diarrhea | Dicarboxylic aciduria | Elevated circulating hepatic transaminase concentration | Encephalopathy | Hepatic steatosis | Hepatomegaly | Hypoglycemia | Hypoglycemic coma | Hypophosphatemia | Infantile onset | Juvenile onset | Ketonuria | Metabolic acidosis | Seizure | Steatorrhea | Vomiting" ], "symptoms_ja_list": [ "ケトン尿 | ジカルボン酸尿 | 下痢 | 代謝/ホメオスターシスの異常 | 代謝性アシドーシス | 低リン血症 | 低血糖 | 低血糖性昏睡 | 嘔吐 | 常染色体潜性遺伝 | 昏睡 | 発作 | 肝トランスアミナーゼ上昇 | 肝腫 | 脂肪便 | 脂肪肝 | 脳症" ] }, { "id": "NANDO:1200197", "label_en": "Rapidly progressive subacute sclerosing panencephalitis", "label_ja": "急速進行型亜急性硬化性全脳炎", "yomigana": "きゅうそくしんこうがたあきゅうせいこうかせいぜんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200197", "notificationNumber": "24", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200567", "label_en": "Focal cortical dysplasia type 1c", "label_ja": "限局性皮質異形成タイプ1c", "yomigana": "げんきょくせいひしついけいせいたいぷ1しー", "url": "http://nanbyodata.jp/ontology/NANDO_1200567", "notificationNumber": "137", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200521", "label_en": "Succinyl-CoA ligase deficiency", "label_ja": "スクシニル-CoAリガーゼ欠損症", "yomigana": "すくしにるこえーりがーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200521", "notificationNumber": "85", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200462", "label_en": "Maturity-onset diabetes of the young", "label_ja": "若年発症成人型糖尿病", "yomigana": "じゃくねんはっしょうせいじんがたとうにょうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200462", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [ "Abnormal oral glucose tolerance | Abnormality of the genitourinary system | Abnormality of the kidney | Acanthosis nigricans | Diabetic ketoacidosis | Exocrine pancreatic insufficiency | Glucose intolerance | Glycosuria | Hepatocellular adenoma | Hyperglycemia | Hyperinsulinemic hypoglycemia | Insulin-resistant diabetes mellitus | Intrauterine growth retardation | Large for gestational age | Neonatal hypoglycemia | Nephropathy | Obesity | Pancreatic hypoplasia | Renal cyst | Retinopathy | Transient neonatal diabetes mellitus" ], "symptoms_ja_list": [ "インスリン抵抗性糖尿病 | 一過性新生児糖尿病 | 在胎月齢より大きい児 | 外分泌性膵不全 | 子宮内成長遅滞 | 尿糖 | 新生児低血糖 | 泌尿生殖器異常 | 糖尿病性ケトアシドーシス | 経口ブドウ糖負荷異常 | 網膜症 | 耐糖能異常 | 肝細胞腺腫 | 肥満 | 腎嚢胞 | 腎異常 | 腎症 | 膵低形成 | 高インスリン血症性低血糖 | 高血糖 | 黒色表皮腫" ] }, { "id": "NANDO:2200228", "label_en": "Long qt syndrome", "label_ja": "QT延長症候群", "yomigana": "きゅーてぃーえんちょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200228", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100053", "symptoms_en_list": [ "Abnormal T-wave | Abnormal autonomic nervous system physiology | Abnormality of prenatal development or birth | Hearing impairment | Hypokalemia | Prolonged QTc interval | Seizure | Sinus bradycardia | Sudden cardiac death | Syncope | Torsade de pointes | Ventricular arrhythmia" ], "symptoms_ja_list": [ "トルサードドポアンツ (Torsade de pointes) | 低カリウム血症 | 出生前または出生時発達の異常 | 失心 | 心室性不整脈 | 心電図: T-波異常 | 洞性徐脈 | 異常な自律神経生理 | 発作 | 突然心臓死 | 遷延性 QTc 間隔 | 難聴" ] }, { "id": "NANDO:1200928", "label_en": "IgG4-related sclerosing cholangitis", "label_ja": "IgG4関連硬化性胆管炎", "yomigana": "あいじーじー4かんれんこうかせいたんかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200928", "notificationNumber": "300", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201212", "label_en": "Gaucher disease type 3", "label_ja": "ゴーシェ病3型", "yomigana": "ごーしぇびょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201212", "notificationNumber": "115", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal heart valve morphology | Abnormal myocardium morphology | Abnormal pulmonary interstitial morphology | Abnormal speech pattern | Abnormality of the dentition | Adult onset | Anemia | Anodontia | Aortic valve calcification | Ataxia | Autosomal recessive inheritance | Avascular necrosis | Bone pain | Calcification of the aorta | Childhood onset | Decreased beta-glucocerebrosidase level | Decreased body weight | Delayed puberty | Delayed skeletal maturation | Dementia | Depression | Encephalopathy | Fatigue | Gait disturbance | Generalized myoclonic seizure | Growth delay | Hematuria | Hepatomegaly | Horizontal supranuclear gaze palsy | Hydrops fetalis | Increased bone mineral density | Increased circulating immunoglobulin concentration | Increased susceptibility to fractures | Mitral valve calcification | Motor delay | Myoclonus | Ophthalmoplegia | Osteolysis | Osteopenia | Pancytopenia | Pericardial effusion | Progressive neurologic deterioration | Proteinuria | Pulmonary arterial hypertension | Recurrent respiratory infections | Seizure | Short stature | Slowed horizontal saccades | Spastic paraparesis | Splenomegaly | Strabismus | Thrombocytopenia | Vascular calcification" ], "symptoms_ja_list": [ "Dementia | β-グルコセレブロシダーゼタンパクと活性の減少 | うつ | ミオクローヌス | 低身長 | 体重減少 | 僧帽弁石灰化 | 全身性ミオクローヌス発作 | 反復性呼吸器感染症 | 大動脈弁石灰化 | 大動脈石灰化 | 常染色体潜性遺伝 | 心外膜滲出液 | 心弁の異常 | 心筋の異常 | 思春期遅発 | 成長遅滞 | 斜視 | 易骨折性の増加 | 歩行障害 | 歯の異常 | 水平性核上注視 麻痺 | 汎血球減少症 | 無歯 | 無菌性壊死 | 疲労 | 痙性対不全麻痺 | 発作 | 眼筋麻痺 | 神経学的発語障害 | 緩徐な水平サッカード | 肝腫 | 肺高血圧 | 胎児水腫 | 脳症 | 脾腫 | 蛋白尿 | 血小板減少 | 血尿 | 血管石灰化 | 貧血 | 進行性神経学的悪化 | 運動失調 | 運動発達遅滞 | 間質性肺疾患 | 骨ミネラル濃度の増加 | 骨格骨化遅延 | 骨減少症 | 骨痛 | 骨融解 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2200582", "label_en": "Aceruloplasminemia", "label_ja": "無セルロプラスミン血症", "yomigana": "むせるろぷらすみんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200582", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100167", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal corpus striatum morphology | Abnormal dentate nucleus morphology | Abnormal pancreas morphology | Abnormal retinal pigmentation | Abnormal thalamic MRI signal intensity | Abnormality of extrapyramidal motor function | Abnormality of the nervous system | Adult onset | Akinesia | Anemia | Apathy | Ataxia | Autosomal recessive inheritance | Blepharospasm | Chorea | Cirrhosis | Cognitive impairment | Cogwheel rigidity | Congestive heart failure | Craniofacial dystonia | Decreased circulating ceruloplasmin concentration | Decreased circulating copper concentration | Dementia | Diabetes mellitus | Dysarthria | Dystonia | Elevated hepatic iron concentration | Facial grimacing | Gait ataxia | Hepatic fibrosis | Hypochromic microcytic anemia | Increased circulating ferritin concentration | Involuntary movements | Iron accumulation in brain | Limb ataxia | Macular degeneration | Memory impairment | Nystagmus | Parkinsonism | Refractory anemia | Retinal degeneration | Rigidity | Scanning speech | Torticollis | Tremor" ], "symptoms_ja_list": [ "Dementia | うっ血性心不全 | しかめ顔 | ジストニア | パーキンソン症候群 | 不随意運動 | 低色素性小球性貧血 | 低銅血症 | 四肢失調 | 常染色体潜性遺伝 | 振戦 | 斜頚 | 断綴言 | 構音障害 | 歩行失調 | 歯状核の異常 | 歯車様硬直 | 無動症 | 無関心", "感情鈍磨 | 異常な視床MRI シグナル強度 | 眼振 | 眼瞼スパスム | 硬直 | 神経系の異常 | 糖尿病 | 網膜変性 | 網膜色素異常 | 線条体の異常 | 肝の鉄濃度上昇 | 肝硬変 | 肝線維症 | 脳内鉄沈着 | 膵形態の異常 | 舞踏病 | 血清セルロプラスミン減少 | 血清フェリチン増加 | 記憶障害 | 認知障害 | 貧血 | 運動失調 | 錐体外路運動機能の異常 | 難治性貧血 | 頭蓋顔面ジストニア | 高度/補酵素活性異常 | 黄斑変性" ] }, { "id": "NANDO:2200066", "label_en": "Dysgerminoma", "label_ja": "未分化胚細胞腫", "yomigana": "みぶんかはいさいぼうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200066", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200724", "label_en": "Endocapillary proliferative glomerulonephritis", "label_ja": "管内増殖性糸球体腎炎", "yomigana": "かんないぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200724", "notificationNumber": "222", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200665", "label_en": "ACTN1 mutations", "label_ja": "αアクチニン1異常症", "yomigana": "あるふぁあくちにん1いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200665", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [ "Autosomal dominant inheritance | Epistaxis | Impaired ADP-induced platelet aggregation | Increased mean platelet volume | Thrombocytopenia" ], "symptoms_ja_list": [ "ADP-誘発性血小板凝集障害 | 常染色体顕性遺伝 | 平均血小板容量増加 | 血小板減少 | 鼻出血" ] }, { "id": "NANDO:1200569", "label_en": "Focal cortical dysplasia type 2b", "label_ja": "限局性皮質異形成タイプ2b", "yomigana": "げんきょくせいひしついけいせいたいぷ2びー", "url": "http://nanbyodata.jp/ontology/NANDO_1200569", "notificationNumber": "137", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200320", "label_en": "IGF1 insensitivity", "label_ja": "インスリン様成長因子1不応症", "yomigana": "いんすりんようせいちょういんし1ふおうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200320", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100114", "symptoms_en_list": [ "Abnormal facial shape | Abnormal rib cage morphology | Abnormally high-pitched voice | Agitation | Anxiety | Atrial septal defect | Autosomal dominant inheritance | Autosomal recessive inheritance | Broad nasal tip | Congenital onset | Decreased body weight | Deeply set eye | Delayed skeletal maturation | Delayed speech and language development | Diabetes mellitus | Everted lower lip vermilion | Global developmental delay | Growth delay | High palate | Highly arched eyebrow | Hypoplasia of the corpus callosum | Intellectual disability | Intrauterine growth retardation | Lipodystrophy | Long philtrum | Low-set ears | Microcephaly | Micrognathia | Motor delay | Narrow mouth | Patent foramen ovale | Pectus excavatum | Radial deviation of finger | Reduced subcutaneous adipose tissue | Retrognathia | Rieger anomaly | Sandal gap | Severe short stature | Short finger | Short foot | Short palm | Short stature | Small hand | Smooth philtrum | Sparse scalp hair | Strabismus | Synophrys | Thick eyebrow | Thin upper lip vermilion | Thin vermilion border | Triangular face | Truncal obesity | Upslanted palpebral fissure | Ventricular septal defect | Webbed neck | Wide intermamillary distance | Wide nasal bridge" ], "symptoms_ja_list": [ "Rieger 奇形 | サンダルギャップ | リポジストロフィー | 三角形の顔 | 下口唇唇紅部外反 | 下顎後退 | 不安 | 不穏 | 低身長 | 体幹肥満 | 体重減少 | 全般性発達遅滞 | 分厚い眉毛 | 卵円孔開存 | 子宮内成長遅滞 | 小さい手 | 小頭 | 小顎 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 幅広い乳頭間距離 | 幅広い鼻尖 | 幅広い鼻梁 | 平坦な人中 | 心室中隔欠損 | 心房中隔欠損 | 成長遅滞 | 指の橈側偏位 | 斜視 | 漏斗胸 | 狭い口 | 異常な顔の形 | 疎な頭髪 | 発語および言語発達遅延 | 皮下脂肪組織減少 | 眼瞼裂斜上 | 知的障害 | 短い手掌 | 短い指 | 短い足 | 糖尿病 | 翼状頚 | 耳介低位 | 肋骨胸郭の異常 | 脳梁低形成 | 落ちくぼんだ眼 | 薄い上口唇唇紅部 | 薄い唇紅部縁 | 連続眉毛 | 運動発達遅滞 | 重度の低身長 | 長い人中 | 骨格骨化遅延 | 高位の弓形眉毛 | 高口蓋 | 高音の声" ] }, { "id": "NANDO:2201257", "label_en": "Ehlers-Danlos syndrome, hypermobility type", "label_ja": "関節型エーラス・ダンロス症候群", "yomigana": "かんせつがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201257", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100172", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal foot morphology | Abnormality of the wrist | Acrocyanosis | Anorectal anomaly | Anxiety | Aortic root aneurysm | Aplasia/Hypoplasia of the abdominal wall musculature | Apnea | Arachnodactyly | Arrhythmia | Arterial dissection | Arthralgia | Ascending tubular aorta aneurysm | Atypical scarring of skin | Autosomal dominant inheritance | Bruising susceptibility | Chronic pain | Constipation | Cystocele | Decreased fertility | Decreased nerve conduction velocity | Dental crowding | Depression | Elbow dislocation | Epicanthus | Epistaxis | Exercise-induced myalgia | Fatigue | Gastroesophageal reflux | Gastrointestinal dysmotility | Genital hernia | Gingival overgrowth | Gingivitis | High myopia | High", "narrow palate | Hip dislocation | Hyperextensible skin | Hypotonia | Inguinal hernia | Joint dislocation | Joint hypermobility | Keratoconjunctivitis sicca | Keratoconus | Limitation of joint mobility | Loss of ambulation | Malabsorption | Microdontia | Migraine | Mitral valve prolapse | Muscle weakness | Myalgia | Nausea and vomiting | Osteoarthritis | Osteolysis | Paresthesia | Pes planus | Ptosis | Rectal prolapse | Scarring | Scoliosis | Sleep disturbance | Soft skin | Striae distensae | Subcutaneous nodule | Tendon rupture | Thin skin | Umbilical hernia | Venous insufficiency | Vertigo | Wormian bones" ], "symptoms_ja_list": [ "うつ | くも指 | ウォルム氏骨 | 上行大動脈拡張 | 不安 | 不整脈 | 乾燥性 | 伸展線 | 便秘 | 偏頭痛 | 側弯 | 僧帽弁逸脱 | 内眼角贅皮 | 円錐角膜 | 出血傾向 | 動脈解離 | 吐気と 嘔吐 | 吸収障害 | 大動脈基部拡大 | 妊孕性減少 | 小歯 | 常染色体顕性遺伝 | 性器ヘルニア | 感覚異常 | 慢性疼痛 | 扁平足 | 手関節の異常 | 柔らかい皮膚 | 歯混雑 | 歯肉炎 | 歯肉過成長 | 無呼吸 | 異常な自律神経生理 | 疲労 | 瘢痕 | 皮下結節 | 直腸逸脱 | 眩暈 | 眼瞼下垂 | 睡眠障害 | 神経活動電位の振幅減少 | 筋痛 | 筋緊張低下 | 筋虚弱 | 肘脱臼 | 肛門直腸奇形 | 股関節脱臼 | 肢端チアノーゼ | 胃腸蠕動運動異常 | 胃食道逆流 | 腱破裂 | 腹壁筋無形成/低形成 | 膀胱瘤 | 臍ヘルニア | 薄い皮膚 | 足の異常 | 進行性歩行不安定 | 運動誘発性筋痛 | 過伸展皮膚 | 重度近視 | 関節痛 | 関節脱臼 | 関節運動制限 | 関節過動 | 静脈不全 | 非典型的皮膚瘢痕 | 骨融解 | 骨関節炎 | 高狭口蓋 | 鼠径ヘルニア | 鼻出血" ] }, { "id": "NANDO:2200854", "label_en": "Congenital insensitivity to pain with anhidrosis", "label_ja": "先天性無痛無汗症", "yomigana": "せんてんせいむつうむかんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200854", "notificationNumber": "49", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100232", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal emotional state | Abnormal hip bone morphology | Abnormal lumbar spine morphology | Abnormality of humoral immunity | Abnormality of lower limb joint | Abnormality of peripheral nerve conduction | Abnormality of the ankle | Abnormality of the autonomic nervous system | Abnormality of the immune system | Acral ulceration | Alveolar ridge overgrowth | Anemia | Anhidrosis | Aplasia of the sweat glands | Atypical scarring of skin | Autoamputation of digits | Autosomal recessive inheritance | Avascular necrosis | Bruising susceptibility | Chronic kidney disease | Corneal scarring | Corneal ulceration | Decreased corneal reflex | Decreased number of small peripheral myelinated nerve fibers | Distal sensory impairment | Dry skin | Dysphagia | Emotional lability | Fasciitis | Feeding difficulties | Functional motor deficit | Gait disturbance | Global developmental delay | Growth delay | Hyperactivity | Hyperesthesia | Hyperhidrosis | Hypothermia | Impaired temperature sensation | Impulsivity | Infantile onset | Intellectual disability | Keratitis | Lichenification | Nail dysplasia | Nail dystrophy | Nail-biting | Neuropathic arthropathy | Opacification of the corneal stroma | Orthostatic hypotension due to autonomic dysfunction | Osteomyelitis | Pain insensitivity | Painless fractures due to injury | Poor wound healing | Postural hypotension with compensatory tachycardia | Premature loss of teeth | Recurrent Staphylococcus aureus infection | Recurrent aspiration pneumonia | Recurrent corneal erosions | Recurrent fever | Self-mutilation | Septic arthritis | Short attention span | Somatic sensory dysfunction | Sparse scalp hair | Specific learning disability | Syncope | Trophic limb changes | Unexplained fevers" ], "symptoms_ja_list": [ "ニューロパチー性関節症 | 下肢関節の異常 | 不明熱 | 乾いた皮膚 | 代償性頻拍を伴う姿勢性低血圧 | 低体温 | 傷治癒不全 | 免疫系の異常 | 全般性発達遅滞 | 出血傾向 | 反復性角膜びらん | 反復性誤嚥性肺炎 | 反復性黄色ブドウ球菌感染症 | 嚥下障害 | 外傷による無痛性骨折 | 多動 | 多汗 | 失心 | 寛骨の異常 | 小さな末梢有髄神経線維数の減少 | 常染色体潜性遺伝 | 情動不安定 | 感覚障害 | 慢性腎疾患 | 成長遅滞 | 指趾の自己切断となる肢端潰瘍 | 敗血症性関節炎 | 早発性歯喪失 | 末梢神経伝導の異常 | 栄養性四肢変化 | 機能的筋異常 | 歩行障害 | 歯槽隆起 過成長 | 汗腺無形成 | 液性免疫の異常 | 温度覚障害 | 無汗症 | 無菌性壊死 | 爪ジストロフィー | 爪噛み | 爪異形成 | 特異的学習障害 | 異常な感情/情動行動 | 異常な自律神経生理 | 疎な頭髪 | 疼痛不応性 | 発熱エピソード | 知的障害 | 知覚過敏 | 短い注意期間 | 筋膜炎 | 腰椎の異常 | 自己切断 | 自律神経の異常 | 自律神経性機能障害による起立性低血圧 | 苔癬化 | 衝動性 | 角膜反射減少 | 角膜潰瘍 | 角膜炎 | 角膜瘢痕 | 角膜間質混濁形成 | 貧血 | 足関節の異常 | 趾の自然切断", "自己切断 | 遠位感覚障害 | 非典型的皮膚瘢痕 | 食餌摂取障害 | 骨髄炎" ] }, { "id": "NANDO:1200235", "label_en": "Epidermolysis bullosa simplex", "label_ja": "単純型表皮水疱症", "yomigana": "たんじゅんがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200235", "notificationNumber": "36", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100134", "label_en": "Congenital adrenal hyperplasia", "label_ja": "先天性副腎過形成症", "yomigana": "せんてんせいふくじんかけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100134", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200384", "label_en": "obsolete Acquired hypogonadotropic hypogonadism", "label_ja": "obsolete 続発性ゴナドトロピン分泌低下症", "yomigana": "ぞくはつせいごなどとろぴんぶんぴつていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200384", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201072", "label_en": "Maturity-onset diabetes of the young type 4", "label_ja": "MODY4", "yomigana": "えむおーでぃーわい4", "url": "http://nanbyodata.jp/ontology/NANDO_2201072", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [ "Autosomal dominant inheritance | Maturity-onset diabetes of the young | Type II diabetes mellitus" ], "symptoms_ja_list": [ "II 型糖尿病 | 常染色体顕性遺伝 | 若年発症成人型糖尿病" ] }, { "id": "NANDO:2200439", "label_en": "Deficiency of the interleukin-1-receptor antagonist", "label_ja": "インターロイキンI受容体拮抗分子欠損症", "yomigana": "いんたーろいきん1じゅようたいきっこうぶんしけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200439", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Arthralgia | Autosomal recessive inheritance | Broad ribs | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Failure to thrive in infancy | Flaring of rib cage | Fused cervical vertebrae | Hepatomegaly | Hyperkeratosis | Increased total neutrophil count | Joint swelling | Motor delay | Neonatal onset | Osteolysis | Osteomyelitis | Osteopenia | Pulmonary fibrosis | Pustule | Respiratory distress | Skin rash | Splenomegaly | Stomatitis" ], "symptoms_ja_list": [ "CRP 上昇 | 乳児期の成長障害 (成長不全) | 口内炎 | 呼吸窮迫 | 好中球増多症 | 常染色体潜性遺伝 | 幅広い肋骨 | 皮膚発疹 | 肋骨胸郭のフレア | 肝腫 | 肺線維症 | 脾腫 | 膿疱 | 赤沈値上昇 | 運動発達遅滞 | 過角化症 | 関節痛 | 関節腫脹 | 頚椎癒合 | 骨減少症 | 骨融解 | 骨髄炎" ] }, { "id": "NANDO:2201364", "label_en": "Melorheostosis", "label_ja": "流蝋骨症", "yomigana": "りゅうろうこつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201364", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormality of the skeletal system | Arthralgia | Arthritis | Atypical scarring of skin | Bone pain | Cranial nerve paralysis | Ectopic ossification in muscle tissue | Failure to thrive | Hyperostosis | Increased bone mineral density | Joint stiffness | Lower limb asymmetry | Lymphedema | Peripheral arteriovenous fistula | Progressive | Skeletal dysplasia | Skeletal muscle atrophy | Sporadic | Upper limb asymmetry" ], "symptoms_ja_list": [ "リンパ性浮腫 | 上肢非対称 | 下肢非対称 | 孤発性 | 成長障害 (成長不全) | 末梢動静脈瘻 | 筋組織の異所性骨化 | 筋萎縮 | 脳神経麻痺 | 関節拘縮 | 関節炎 | 関節痛 | 非典型的皮膚瘢痕 | 骨ミネラル濃度の増加 | 骨化過剰 | 骨格の異常 | 骨格異形成 | 骨痛" ] }, { "id": "NANDO:2201024", "label_en": "Osteopoikilosis", "label_ja": "骨斑紋症", "yomigana": "こつはんもんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201024", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200888", "label_en": "Congenital dyserythropoietic anemia type III", "label_ja": "先天性赤血球形成異常性貧血 Type III", "yomigana": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ たいぷ3", "url": "http://nanbyodata.jp/ontology/NANDO_1200888", "notificationNumber": "282", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal erythrocyte morphology | Abnormal erythroid lineage cell morphology | Anemia | Anemia of inadequate production | Anisocytosis | Autosomal dominant inheritance | Congenital hypoplastic anemia | Elevated circulating hepatic transaminase concentration | Elevated circulating iron concentration | Fatigue | Gingival bleeding | Headache | Hemosiderinuria | Hyperbilirubinemia | Increased mean corpuscular volume | Jaundice | Macrocytic anemia | Melena | Pallor | Poikilocytosis | Post-partum hemorrhage | Short stature" ], "symptoms_ja_list": [ "ヘモジデリン尿 | 下血 | 不適切な産生貧血 | 低身長 | 先天性再生不良性貧血 | 大球性貧血 | 巨大赤血球症 | 常染色体顕性遺伝 | 歯肉出血 | 産後出血 | 異型赤血球増加症 | 疲労 | 肝トランスアミナーゼ上昇 | 蒼白 | 血清鉄増加 | 貧血 | 赤血球の異常 | 赤血球大小不同 | 赤血球系細胞の異常 | 頭痛 | 高ビリルビン血症 | 黄疸" ] }, { "id": "NANDO:2201175", "label_en": "Mucopolysaccharidosis type III B", "label_ja": "B型ムコ多糖症III型", "yomigana": "びーがたむこたとうしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201175", "notificationNumber": "131", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Aggressive behavior | Asymmetric septal hypertrophy | Autosomal recessive inheritance | Cardiomegaly | Childhood onset | Coarse facial features | Coarse hair | Dense calvaria | Diarrhea | Dysostosis multiplex | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hirsutism | Hyperactivity | Intellectual disability | Joint stiffness | Juvenile onset | Ovoid thoracolumbar vertebrae | Progressive neurologic deterioration | Recurrent upper respiratory tract infections | Seizure | Sleep disturbance | Splenomegaly | Synophrys | Thickened ribs" ], "symptoms_ja_list": [ "下痢 | 卵形胸腰椎 | 反復性上気道感染症 | 多動 | 多毛 | 多発性異骨症 | 尿中硫酸ヘパラン排泄 | 常染色体潜性遺伝 | 心拡大 | 攻撃的行動 | 濃い頭蓋冠 | 発作 | 睡眠障害 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 肋骨肥厚 | 肝腫 | 脾腫 | 連続眉毛 | 進行性神経学的悪化 | 関節拘縮 | 難聴 | 非対称性中隔肥大" ] }, { "id": "NANDO:2200481", "label_en": "Argininosuccinic aciduria", "label_ja": "アルギニノコハク酸尿症", "yomigana": "あるぎにのこはくさんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200481", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal hair quantity | Aminoaciduria | Arrhythmia | Ataxia | Attention deficit hyperactivity disorder | Autosomal recessive inheritance | Brittle hair | Carious teeth | Cerebral edema | Chronic pancreatitis | Cirrhosis | Coma | Delayed speech and language development | Diarrhea | Drowsiness | Dry hair | Dystonia | EEG abnormality | Eczematoid dermatitis | Elevated circulating hepatic transaminase concentration | Elevated plasma citrulline | Episodic ammonia intoxication | Failure to thrive | Feeding difficulties in infancy | Focal T2 hyperintense basal ganglia lesion | Global brain atrophy | Global developmental delay | Hepatic failure | Hepatic fibrosis | Hepatocellular carcinoma | Hepatomegaly | Hyperammonemia | Hyperglutaminemia | Hypertension | Hypertriglyceridemia | Hypoargininemia | Hypokalemia | Intellectual disability | Irritability | Lethargy | Motor delay | Muscle weakness | Neonatal onset | Neurodevelopmental delay | Oroticaciduria | Patchy alopecia | Periventricular leukomalacia | Pili torti | Protein avoidance | Psychosis | Renal insufficiency | Respiratory alkalosis | Seizure | Self-mutilation | Specific learning disability | Tachypnea | Thrombocytosis | Tremor | Trichorrhexis nodosa | Vomiting" ], "symptoms_ja_list": [ "アミノ酸尿 | アンモニア中毒エピソード | オロチン酸尿 | ジストニア | 下痢 | 不整脈 | 乾いた毛髪 | 低アルギニン血症 | 低カリウム血症 | 全般性発達遅滞 | 全般性脳萎縮 | 嘔吐 | 多呼吸 | 大脳浮腫 | 巣状 T2 高輝度基底核病変 | 常染色体潜性遺伝 | 慢性膵炎 | 成長障害 (成長不全) | 振戦 | 捻転毛 | 斑状禿頭 | 昏睡 | 注意力欠陥多動性疾患 | 活性減少アルカローシス | 湿疹 | 無気力 | 特異的学習障害 | 異常な毛髪量 | 発作 | 発語および言語発達遅延 | 眠気 | 知的障害 | 神経発生遅延 | 筋虚弱 | 精神病 | 結節性裂毛症 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝硬変 | 肝細胞癌 | 肝線維症 | 肝腫 | 脆い毛髪 | 脳室周囲白質軟化症 | 脳波異常 | 腎不全 | 自己切断 | 蛋白回避 | 血小板増多症 | 血漿シトルリン上昇 | 被刺激性 | 運動失調 | 運動発達遅滞 | 食餌摂取障害 in infancy | 高アンモニア血症 | 高グルタミン血症 | 高トリグリセリド血症 | 高血圧 | 齲歯" ] }, { "id": "NANDO:2100139", "label_en": "Hypergonadotropic hypogonadism", "label_ja": "高ゴナドトロピン性性腺機能低下症", "yomigana": "こうごなどとろぴんせいせいせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100139", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201022", "label_en": "Osteosclerotic diseases", "label_ja": "骨硬化性疾患", "yomigana": "こつこうかせいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2201022", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200103", "label_en": "Sanfilippo disease type C", "label_ja": "サンフィリッポ症候群C型", "yomigana": "さんふぃりっぽしょうこうぐんしーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200103", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Asymmetric septal hypertrophy | Autosomal recessive inheritance | Beaking of vertebral bodies | Cellular metachromasia | Childhood onset | Coarse facial features | Coarse hair | Dense calvaria | Diarrhea | Dolichocephaly | Dysostosis multiplex | Dysphagia | Everted lower lip vermilion | Global developmental delay | Growth abnormality | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hernia | Hirsutism | Hyperactivity | Hypertrichosis | Intellectual disability | Joint stiffness | Juvenile onset | Kyphoscoliosis | Loss of speech | Motor delay | Motor deterioration | Ovoid thoracolumbar vertebrae | Recurrent upper respiratory tract infections | Rod-cone dystrophy | Seizure | Sleep disturbance | Splenomegaly | Synophrys | Thickened ribs" ], "symptoms_ja_list": [ "くちばし状椎体骨 | ヘルニア | 下口唇唇紅部外反 | 下痢 | 全般性発達遅滞 | 卵形胸腰椎 | 反復性上気道感染症 | 嚥下障害 | 多動 | 多毛 | 多毛症 | 多発性異骨症 | 尿中硫酸ヘパラン排泄 | 常染色体潜性遺伝 | 後側弯 | 成長異常 | 濃い頭蓋冠 | 発作 | 発語喪失 | 睡眠障害 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 細胞異染性 | 肋骨肥厚 | 肝腫 | 脾腫 | 色素性網膜炎 | 連続眉毛 | 運動発達悪化 | 運動発達遅滞 | 長頭 | 関節拘縮 | 難聴 | 非対称性中隔肥大" ] }, { "id": "NANDO:2200873", "label_en": "Other congenital structural myopathy", "label_ja": "56から61までに掲げるもののほか、先天性ミオパチー", "yomigana": "56から61までにかかげるもののほか、せんてんせいみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_2200873", "notificationNumber": "56", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100234", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100176", "label_en": "Megaloblastic anemia", "label_ja": "巨赤芽球性貧血", "yomigana": "きょせきがきゅうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2100176", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200906", "label_en": "Myasthenia gravis", "label_ja": "重症筋無力症", "yomigana": "じゅうしょうきんむりょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200906", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100252", "symptoms_en_list": [ "Abnormal thymus morphology | Abnormality of the endocrine system | Abnormality of the immune system | Acrocyanosis | Autoimmunity | Bulbar palsy | Difficulty climbing stairs | Diplopia | Dysarthria | Dysphagia | Dysphonia | Dyspnea | Facial palsy | Fatigable weakness | Fatigue | Glycosuria | Hashimoto thyroiditis | Hearing impairment | Hemolytic anemia | Hepatitis | Hyperacusis | Hypernasal speech | Hyperthyroidism | Impaired mastication | Limb muscle weakness | Muscle weakness | Myositis | Non-Mendelian inheritance | Ophthalmoparesis | Paresthesia | Primary adrenal insufficiency | Proximal muscle weakness | Psychosis | Ptosis | Pure red cell aplasia | Respiratory failure | Rheumatoid arthritis | Seizure | Skeletal muscle atrophy | Systemic lupus erythematosus | Thymoma | Thymus hyperplasia | Tongue atrophy" ], "symptoms_ja_list": [ "免疫系の異常 | 全身性紅斑性狼瘡 | 内分泌系異常 | 原発性副腎不全 | 呼吸不全 | 呼吸困難 | 咀嚼こんな | 嚥下障害 | 四肢筋虚弱 | 多因子遺伝 | 尿糖 | 感覚異常 | 構音障害 | 橋本甲状腺炎 | 溶血性貧血 | 球麻痺 | 甲状腺機能亢進症 | 疲労 | 疲労性虚弱 | 発作 | 発音障害 | 眼瞼下垂 | 眼筋不全麻痺 | 筋炎 | 筋萎縮 | 筋虚弱 | 精神病 | 純粋赤血球無形成 | 聴覚過敏 | 肝炎 | 肢端チアノーゼ | 胸腺の異常 | 胸腺腫 | 胸腺過形成 | 自己免疫 | 舌萎縮 | 複視 | 近位筋虚弱 | 関節リウマチ | 階段の登り困難 | 難聴 | 顔面麻痺 | 鼻声発語" ] }, { "id": "NANDO:2100007", "label_en": "Central nervous system tumors", "label_ja": "中枢神経系腫瘍", "yomigana": "ちゅうすうしんけいけいしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2100007", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200163", "label_en": "Intermediate cystinosis", "label_ja": "中間型シスチン症", "yomigana": "ちゅうかんがたしすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200163", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cornea morphology | Abnormal long bone morphology | Abnormal urine potassium concentration | Aminoaciduria | Autosomal recessive inheritance | Chronic kidney disease | Corneal crystals | Decreased circulating vitamin D concentration | Dehydration | Delayed skeletal maturation | Elevated alkaline phosphatase of bone origin | Elevated circulating creatinine concentration | Elevated intracellular cystine | Failure to thrive | Feeding difficulties | Glycosuria | Growth abnormality | Growth delay | Hypocalcemia | Hypocalcemic tetany | Hypokalemia | Hyponatremia | Hypophosphatemia | Hypothyroidism | Hypouricemia | Hypovolemia | Juvenile onset | Low-molecular-weight proteinuria | Metabolic acidosis | Microscopic hematuria | Ocular pain | Photophobia | Polydipsia | Poor appetite | Proteinuria | Proximal tubulopathy | Renal Fanconi syndrome | Renal insufficiency | Renal phosphate wasting | Retinal pigment epithelial mottling | Retinopathy | Rickets | Seizure | Stage 5 chronic kidney disease | Vomiting" ], "symptoms_ja_list": [ "くる病 | アミノ酸尿 | ステージ5慢性腎疾患 | ビタミンD欠乏症 | 代謝性アシドーシス | 低カリウム血症 | 低カルシウム血症 | 低カルシウム血症性テタニー | 低ナトリウム血症 | 低リン血症 | 低分子量蛋白尿 | 低尿酸血症 | 嘔吐 | 塩胡椒網膜症 | 多飲 | 尿中カリウム濃度異常 | 尿糖 | 常染色体潜性遺伝 | 循環血液量減少 | 慢性腎疾患 | 成長異常 | 成長遅滞 | 成長障害 (成長不全) | 甲状腺機能低下症 | 発作 | 眼痛 | 細胞内シスチン上昇 | 網膜症 | 羞明 | 脱水 | 腎不全 | 腎性 Fanconi 症候群 | 腎性リン喪失 | 蛋白尿 | 血清クレアチン症状 | 角膜の異常 | 角膜結晶 | 近位腎尿細管症 | 長管骨形態の異常 | 顕微血尿 | 食思不振 | 食餌摂取障害 | 骨格骨化遅延 | 骨由来アルカリホスファターゼ上昇" ] }, { "id": "NANDO:2200083", "label_en": "Other solid tumours", "label_ja": "27から68までに掲げるもののほか、固形腫瘍", "yomigana": "27から68までにかかげるもののほか、こけいしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200083", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200716", "label_en": "X-linked agammaglobulinemia", "label_ja": "X連鎖無ガンマグロブリン血症", "yomigana": "えっくすれんさむがんまぐろぶりんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200716", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100205", "symptoms_en_list": [ "Abnormal lung morphology | Abnormality of the lymphatic system | Abnormality of the tonsils | Agammaglobulinemia | Alopecia | Anemia | Arthritis | Autoimmunity | Bronchiectasis | Bronchiolitis obliterans | Cellulitis | Childhood onset | Chronic diarrhea | Chronic otitis media | Conjunctivitis | Cor pulmonale | Decreased circulating IgA concentration | Decreased circulating IgE concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased total B cell count | Decreased total T cell count | Decreased total neutrophil count | Delayed speech and language development | Enteroviral dermatomyositis syndrome | Enteroviral hepatitis | Epididymitis | Failure to thrive | Fatigue | Fever | Glossoptosis | Hearing impairment | Hepatitis | Hepatocellular carcinoma | Hypocalcemia | Hypopigmented skin patches | Immunodeficiency | Infantile onset | Infectious encephalitis | Juvenile onset | Lymph node hypoplasia | Malabsorption | Meningitis | Neonatal onset | Neoplasm | Osteomyelitis | Prostatitis | Pyoderma | Recurrent cutaneous abscess formation | Recurrent infections | Recurrent lower respiratory tract infections | Recurrent otitis media | Recurrent pneumonia | Recurrent sinusitis | Recurrent urinary tract infections | Sensorineural hearing impairment | Sepsis | Septic arthritis | Short stature | Sinusitis | Skin rash | Skin ulcer | Thrombocytopenia | Weight loss | X-linked recessive inheritance" ], "symptoms_ja_list": [ "B リンパ球減少症 | IgA欠乏症 | IgE欠乏症 | IgG欠乏症 | IgM欠乏症 | T リンパ球減少症 | X連鎖潜性遺伝 | エンテロウイルス性皮膚筋炎症候群 | エンテロウイルス肝炎 | リンパ節低形成 | リンパ系の異常 | 低カルシウム血症 | 低色素性皮膚斑 | 低身長 | 体重喪失 | 免疫不全 | 前立腺炎 | 副鼻腔炎 | 反復性下気道感染症 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性尿路感染症 | 反復性感染症 | 反復性皮膚膿瘍形成 | 反復性肺炎 | 吸収障害 | 好中球減少症 | 感音難聴 | 慢性下痢 | 慢性中耳炎 | 成長障害 (成長不全) | 扁桃の異常 | 敗血症 | 敗血症性関節炎 | 新生物 | 気管支拡張 | 無ガンマグロブリン血症 | 疲労 | 発熱 | 発語および言語発達遅延 | 皮膚潰瘍 | 皮膚発疹 | 禿頭 | 精巣上体炎 | 結膜炎 | 肝炎 | 肝細胞癌 | 肺の異常 | 肺性心 | 脳炎 | 膿皮症 | 自己免疫 | 舌根沈下 | 蜂巣織炎 | 血小板減少 | 貧血 | 閉塞性細気管支炎 | 関節炎 | 難聴 | 骨髄炎 | 髄膜炎" ] }, { "id": "NANDO:1201037", "label_en": "Homozygous familial hypobetalipoproteinemia 1", "label_ja": "家族性低βリポタンパク血症1（ホモ接合体）", "yomigana": "かぞくせいていべーたりぽたんぱくけっしょう1（ほもせつごうたい）", "url": "http://nanbyodata.jp/ontology/NANDO_1201037", "notificationNumber": "336", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Acanthocytosis | Ataxia | Autosomal recessive inheritance | Decreased circulating HDL-C concentration | Decreased circulating LDL-C concentration | Decreased circulating vitamin E concentration | Diminished deep tendon reflex | Hypertriglyceridemia | Hypocholesterolemia | Infantile onset | Reduced circulating vitamin A concentration | Retinal degeneration | Rod-cone dystrophy | Steatorrhea" ], "symptoms_ja_list": [ "ビタミンA欠乏症 | ビタミンE欠乏症 | 低βリポ蛋白血症 | 低コレステロール血症 | 常染色体潜性遺伝 | 有棘赤血球増加 | 網膜変性 | 脂肪便 | 腱反射減少 | 色素性網膜炎 | 運動失調 | 高αリポ蛋白血症 | 高トリグリセリド血症" ] }, { "id": "NANDO:1200720", "label_en": "Minimal change nephrotic syndrome", "label_ja": "微小変化型ネフローゼ症候群", "yomigana": "びしょうへんかがたねふろーぜしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200720", "notificationNumber": "222", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200245", "label_en": "Stevens-Johnson syndrome", "label_ja": "スティーヴンス・ジョンソン症候群", "yomigana": "すてぃーぶんす・じょんそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200245", "notificationNumber": "38", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abdominal pain | Abnormal blistering of the skin | Abnormal myocardium morphology | Abnormal pleura morphology | Abnormality of neutrophils | Abnormality of the urethra | Acantholysis | Acute hepatic failure | Anemia | Conjunctivitis | Corneal erosion | Cough | Diarrhea | Dysphagia | Dyspnea | Dysuria | Elevated circulating hepatic transaminase concentration | Entropion | Erythema | Esophageal stricture | Excessive salivation | Fatigue | Fever | Gastrointestinal hemorrhage | Hypokalemic metabolic alkalosis | Macule | Myocardial infarction | Nausea and vomiting | Pancreatitis | Photophobia | Recurrent respiratory infections | Renal insufficiency | Restrictive ventilatory defect | Sepsis | Sudden cardiac death | Thrombocytopenia | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "下痢 | 低カリウム血症性代謝性アルカロージス | 体重喪失 | 内反(眼瞼) | 反復性呼吸器感染症 | 吐気と 嘔吐 | 呼吸困難 | 嚥下障害 | 外層 | 好中球の異常 | 尿道異常 | 心筋の異常 | 心筋梗塞 | 急性肝不全 | 拘束性肺疾患 | 排尿障害 | 敗血症 | 斑 | 有棘細胞解離 | 異常な皮膚水泡 | 疲労 | 発熱 | 突然心臓死 | 紅斑 | 結膜炎 | 羞明 | 肝トランスアミナーゼ上昇 | 胃腸出血 | 胸膜の異常 | 腎不全 | 腹痛 | 膵炎 | 血小板減少 | 視力障害 | 角膜びらん | 誇張された唾液分泌 | 貧血 | 食道胸抱く" ] }, { "id": "NANDO:1200672", "label_en": "Kabuki syndrome", "label_ja": "歌舞伎症候群", "yomigana": "かぶきしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200672", "notificationNumber": "187", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cardiac septum morphology | Abnormal dental morphology | Abnormal dermatoglyphics | Abnormal heart morphology | Abnormal localization of kidney | Abnormal vertebral body morphology | Abnormality of the dentition | Abnormality of the outer ear | Abnormality of the urinary system | Anorectal anomaly | Atrial septal defect | Autistic behavior | Blue sclerae | Brachydactyly | Butterfly vertebrae | Cerebral cortical atrophy | Chronic otitis media | Cleft palate | Clinodactyly of the 5th finger | Coarctation of aorta | Coloboma | Conductive hearing impairment | Congenital diaphragmatic hernia | Crossed fused renal ectopia | Cryptorchidism | Decreased circulating IgA concentration | Depressed nasal tip | Duplicated collecting system | EEG abnormality | Eversion of lateral third of lower eyelids | Failure to thrive | Feeding difficulties | Floppy infant | Gastroesophageal reflux | Hemivertebrae | High palate | Highly arched eyebrow | Hip dislocation | Hydrocephalus | Hydronephrosis | Hyperinsulinemic hypoglycemia | Hypertrichosis | Hypodontia | Hypoplasia of penis | Hypospadias | Hypotonia | Intellectual disability | Joint dislocation | Joint hypermobility | Lip pit | Long eyelashes | Long palpebral fissure | Macrotia | Microcephaly | Microcornea | Microdontia | Microphthalmia | Neurodevelopmental delay | Nystagmus | Obesity | Optic nerve hypoplasia | Orofacial cleft | Peters anomaly | Postnatal growth retardation | Preauricular skin tag | Precocious puberty | Premature thelarche | Prominent fingertip pads | Protruding ear | Ptosis | Recurrent infections | Renal hypoplasia/aplasia | Scoliosis | Seizure | Sensorineural hearing impairment | Short 5th finger | Short columella | Short middle phalanx of finger | Short stature | Small hand | Sparse lateral eyebrow | Strabismus | Ureteropelvic junction obstruction | Ventriculomegaly | Vertebral clefting | Widely spaced teeth" ], "symptoms_ja_list": [ "IgA欠乏症 | Peters 奇形 | コロボーマ | 下眼瞼外側1/3の外反 | 乳児筋性筋緊張低下 | 乳房発育早発 | 交叉癒合性異所性腎 | 伝音難聴 | 低身長 | 停留精巣 | 側弯 | 先天性横隔膜ヘルニア | 半脊椎 | 反復性感染症 | 口唇小孔 | 口腔裂 | 口蓋裂 | 外耳の異常 | 多毛症 | 大動脈縮窄 | 大耳 | 大脳皮質萎縮 | 小さい手 | 小歯 | 小眼球 | 小角膜 | 小頭 | 尿管腎盂接合部閉塞 | 尿路異常 | 尿道下裂 | 心中隔 | 心形態の異常 | 心房中隔欠損 | 思春期早発 | 感音難聴 | 慢性中耳炎 | 成長障害 (成長不全) | 斜視 | 椎体骨形態異常 | 歯の異常 | 歯形態異常 | 歯間隔離 | 水腎症 | 水頭症 | 減歯症 | 生後の成長遅滞 | 異常な皮膚紋理 | 疎な外側眉毛 | 発作 | 目立つ指尖パッド | 眼振 | 眼瞼下垂 | 知的障害 | 短い指中節骨 | 短い第5指 | 短い鼻小柱 | 短指症候群 | 神経発生遅延 | 第5指弯指 | 筋緊張低下 | 耳介前皮膚肉柱 | 耳介聳立 | 肛門直腸奇形 | 股関節脱臼 | 肥満 | 胃食道逆流 | 脊椎裂 | 脳室拡大 | 脳波異常 | 腎位置異常 | 腎低形成/無形成 | 自閉性行動 | 落ちくぼんだ鼻尖 | 蝶形脊椎骨 | 視神経低形成 | 長い眼瞼裂 | 長い睫毛 | 関節脱臼 | 関節過動 | 陰茎低形成 | 集合管重複 | 青色胸膜 sclerae | 食餌摂取障害 | 高インスリン血症性低血糖 | 高位の弓形眉毛 | 高口蓋" ] }, { "id": "NANDO:2100072", "label_en": "Single ventricle", "label_ja": "単心室症", "yomigana": "たんしんしつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100072", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200553", "label_en": "Congenital insensitivity to pain with anhidrosis", "label_ja": "先天性無痛無汗症", "yomigana": "せんてんせいむつうむかんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200553", "notificationNumber": "130", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal emotional state | Abnormal hip bone morphology | Abnormal lumbar spine morphology | Abnormality of humoral immunity | Abnormality of lower limb joint | Abnormality of peripheral nerve conduction | Abnormality of the ankle | Abnormality of the autonomic nervous system | Abnormality of the immune system | Acral ulceration | Alveolar ridge overgrowth | Anemia | Anhidrosis | Aplasia of the sweat glands | Atypical scarring of skin | Autoamputation of digits | Autosomal recessive inheritance | Avascular necrosis | Bruising susceptibility | Chronic kidney disease | Corneal scarring | Corneal ulceration | Decreased corneal reflex | Decreased number of small peripheral myelinated nerve fibers | Distal sensory impairment | Dry skin | Dysphagia | Emotional lability | Fasciitis | Feeding difficulties | Functional motor deficit | Gait disturbance | Global developmental delay | Growth delay | Hyperactivity | Hyperesthesia | Hyperhidrosis | Hypothermia | Impaired temperature sensation | Impulsivity | Infantile onset | Intellectual disability | Keratitis | Lichenification | Nail dysplasia | Nail dystrophy | Nail-biting | Neuropathic arthropathy | Opacification of the corneal stroma | Orthostatic hypotension due to autonomic dysfunction | Osteomyelitis | Pain insensitivity | Painless fractures due to injury | Poor wound healing | Postural hypotension with compensatory tachycardia | Premature loss of teeth | Recurrent Staphylococcus aureus infection | Recurrent aspiration pneumonia | Recurrent corneal erosions | Recurrent fever | Self-mutilation | Septic arthritis | Short attention span | Somatic sensory dysfunction | Sparse scalp hair | Specific learning disability | Syncope | Trophic limb changes | Unexplained fevers" ], "symptoms_ja_list": [ "ニューロパチー性関節症 | 下肢関節の異常 | 不明熱 | 乾いた皮膚 | 代償性頻拍を伴う姿勢性低血圧 | 低体温 | 傷治癒不全 | 免疫系の異常 | 全般性発達遅滞 | 出血傾向 | 反復性角膜びらん | 反復性誤嚥性肺炎 | 反復性黄色ブドウ球菌感染症 | 嚥下障害 | 外傷による無痛性骨折 | 多動 | 多汗 | 失心 | 寛骨の異常 | 小さな末梢有髄神経線維数の減少 | 常染色体潜性遺伝 | 情動不安定 | 感覚障害 | 慢性腎疾患 | 成長遅滞 | 指趾の自己切断となる肢端潰瘍 | 敗血症性関節炎 | 早発性歯喪失 | 末梢神経伝導の異常 | 栄養性四肢変化 | 機能的筋異常 | 歩行障害 | 歯槽隆起 過成長 | 汗腺無形成 | 液性免疫の異常 | 温度覚障害 | 無汗症 | 無菌性壊死 | 爪ジストロフィー | 爪噛み | 爪異形成 | 特異的学習障害 | 異常な感情/情動行動 | 異常な自律神経生理 | 疎な頭髪 | 疼痛不応性 | 発熱エピソード | 知的障害 | 知覚過敏 | 短い注意期間 | 筋膜炎 | 腰椎の異常 | 自己切断 | 自律神経の異常 | 自律神経性機能障害による起立性低血圧 | 苔癬化 | 衝動性 | 角膜反射減少 | 角膜潰瘍 | 角膜炎 | 角膜瘢痕 | 角膜間質混濁形成 | 貧血 | 足関節の異常 | 趾の自然切断", "自己切断 | 遠位感覚障害 | 非典型的皮膚瘢痕 | 食餌摂取障害 | 骨髄炎" ] }, { "id": "NANDO:1200739", "label_en": "Primary membranoproliferative glomerulonephritis type II", "label_ja": "一次性膜性増殖性糸球体腎炎II型", "yomigana": "いちじせいまくせいぞうしょくせいしきゅうたいじんえん2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200739", "notificationNumber": "223", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200723", "label_en": "Other predominantly antibody deficiencies", "label_ja": "23から29までに掲げるもののほか、液性免疫不全を主とする疾患", "yomigana": "23から29までにかかげるもののほか、えきせいめんえきふぜんをしゅとするしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200723", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100205", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200224", "label_en": "Propranolol sensitive VT", "label_ja": "プロプラノロール感受性心室頻拍", "yomigana": "ぷろぷらのろーるかんじゅせいしんしつひんぱく", "url": "http://nanbyodata.jp/ontology/NANDO_2200224", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100049", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200995", "label_en": "Other congenital ichthyoses", "label_ja": "2から6までに掲げるもののほか、先天性魚鱗癬", "yomigana": "2から6までにかかげるもののほか、せんてんせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_2200995", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200295", "label_en": "Pulmonary arteriovenous fistulae", "label_ja": "肺動静脈瘻", "yomigana": "はいどうじょうみゃくろう", "url": "http://nanbyodata.jp/ontology/NANDO_2200295", "notificationNumber": "70", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100102", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200313", "label_en": "Paroxysmal nocturnal hemoglobinuria in the setting of another specified bone marrow disorder", "label_ja": "骨髄不全型発作性夜間ヘモグロビン尿症", "yomigana": "こつずいふぜんがたほっさせいやかんへもぐろびんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200313", "notificationNumber": "62", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201466", "label_en": "Entire colon Hirschsprung disease", "label_ja": "全結腸型ヒルシュスプルング病", "yomigana": "ぜんけっちょうがたひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201466", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100275", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Aganglionic megacolon | Constipation | Diarrhea | Enterocolitis | Failure to thrive in infancy | Feeding difficulties | Functional abnormality of the gastrointestinal tract | Growth delay | Intestinal obstruction | Nausea and vomiting | Polyhydramnios | Sepsis | Short stature | Weight loss" ], "symptoms_ja_list": [ "下痢 | 乳児期の成長障害 (成長不全) | 低身長 | 体重喪失 | 便秘 | 吐気と 嘔吐 | 小腸結腸炎 | 成長遅滞 | 敗血症 | 無神経節性巨大結腸 | 羊水過多 | 胃腸管機能異常 | 腸閉塞 | 腹痛 | 腹部膨満 | 食餌摂取障害" ] }, { "id": "NANDO:2200807", "label_en": "Eosinophilic gastrointestinal disorders", "label_ja": "好酸球性消化管疾患", "yomigana": "こうさんきゅうせいしょうかかんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200807", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100210", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201014", "label_en": "Multiple cartilaginous exostosis", "label_ja": "多発性軟骨性外骨腫症", "yomigana": "たはつせいなんこつせいがいこつしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201014", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal bone structure | Abnormal carpal morphology | Abnormal cartilage morphology | Abnormal femur morphology | Abnormal fibula morphology | Abnormal hand morphology | Abnormal tibia morphology | Abnormality of the knee | Abnormality of the tarsal bones | Arthritis | Asymmetric growth | Bowing of the long bones | Cervical myelopathy | Chest pain | Chondrosarcoma | Coxa valga | Deformed forearm bones | Deformed radius | Dysphagia | Forearm undergrowth | Functional motor deficit | Genu valgum | Hemothorax | Intestinal obstruction | Limb undergrowth | Limitation of joint mobility | Limitation of knee mobility | Limited hip movement | Lower limb asymmetry | Metaphyseal widening | Myalgia | Neuropathic spinal arthropathy | Pain | Peripheral nerve compression | Pneumothorax | Rib exostoses | Scapular exostoses | Short long bone | Short lower limbs | Short metacarpal | Short stature | Somatic sensory dysfunction | Spinal cord compression | Syringomyelia | Talipes valgus | Tethered cord | Urinary retention" ], "symptoms_ja_list": [ "下肢非対称 | 低身長 | 係留脊髄 | 共通 | 前腕成長不良 | 嚥下障害 | 四肢成長不全 | 変形した前腕骨 | 変形した橈骨 | 外反股 | 外反膝 | 外反足 | 大腿骨の異常 | 尿閉 | 感覚障害 | 手形態異常 | 手根骨の異常 | 末梢神経神経圧迫 | 機能的筋異常 | 気胸 | 疼痛 | 短い下肢 | 短い中手骨 | 短い長管骨 | 筋痛 | 肋骨外骨症 | 股関節運動制限 | 肩甲骨外骨症 | 脊椎変形 | 脊髄圧迫 | 脊髄空洞症 | 脛骨の異常 | 腓骨の異常 | 腸閉塞 | 膝の異常 | 膝運動制限 | 血性胸郭 | 足根骨の異常 | 軟骨形態異常 | 軟骨肉腫 | 長管骨湾曲 | 関節炎 | 関節運動制限 | 非対称性成長 | 頚髄ミエロパチー | 骨幹端拡大 | 骨構造異常" ] }, { "id": "NANDO:1201138", "label_en": "Incomplete Behçet’s disease-b", "label_ja": "不全型bベーチェット病", "yomigana": "ふぜんがたびーべーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201138", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201343", "label_en": "Dystrophic epidermolysis bullosa", "label_ja": "栄養障害型表皮水疱症", "yomigana": "えいようしょうがいがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201343", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100190", "label_en": "Thrombocytopenia (limited to those caused by hypersplenism.)", "label_ja": "血小板減少症（脾機能亢進症によるものに限る。）", "yomigana": "けっしょうばんげんしょうしょう（ひきのうこうしんしょうによるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2100190", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200783", "label_en": "Vitamin D-dependent rickets, type 2", "label_ja": "ビタミンD依存症2型", "yomigana": "びたみんでぃーいぞんしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200783", "notificationNumber": "239", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal adipose tissue morphology | Abnormal bone structure | Abnormal hip bone morphology | Abnormal metaphysis morphology | Abnormal thorax morphology | Abnormal vertebral body morphology | Abnormality of the dentition | Abnormality of the skin | Alopecia | Bone cyst | Bone pain | Coarse metaphyseal trabecularization | Dolichocephaly | Frontal bossing | Gait disturbance | Genu valgum | Genu varum | Hyperparathyroidism | Hypocalcemia | Hypophosphatemia | Joint dislocation | Kidney stone | Osteolysis | Osteomalacia | Premature loss of primary teeth | Recurrent fractures | Scoliosis | Short stature" ], "symptoms_ja_list": [ "低カルシウム血症 | 低リン血症 | 低身長 | 側弯 | 内反膝 | 前頭突出", "額突出 | 副甲状腺機能亢進症 | 反復性骨折 | 外反膝 | 寛骨の異常 | 早発性乳歯喪失 | 椎体骨形態異常 | 歩行障害 | 歯の異常 | 皮膚の異常 | 禿頭 | 粗い骨梁 | 胸郭の異常 | 脂肪組織の異常 | 腎結石 | 長頭 | 関節脱臼 | 骨嚢胞 | 骨幹端の異常 | 骨構造異常 | 骨痛 | 骨融解 | 骨軟化症" ] }, { "id": "NANDO:2201156", "label_en": "Glycogen storage disease type 3b", "label_ja": "糖原病IIIb型", "yomigana": "とうげんびょう3びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201156", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201064", "label_en": "Kearns-Sayre syndrome", "label_ja": "カーンズ・セイヤー症候群", "yomigana": "かーんず・せいやーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201064", "notificationNumber": "21", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Anterior hypopituitarism | Arrhythmia | Ataxia | Basal ganglia calcification | Cardiomyopathy | Chronic kidney disease | Cognitive impairment | Delayed puberty | Delayed skeletal maturation | Dementia | Diabetes mellitus | Diminished deep tendon reflex | Dysphagia | EMG abnormality | Exercise intolerance | Hearing impairment | Hemiplegia/hemiparesis | Hypoparathyroidism | Hypotonia | Increased CSF protein concentration | Lactic acidosis | Microcephaly | Mitochondrial inheritance | Muscle weakness | Neck muscle weakness | Pigmentary retinopathy | Primary adrenal insufficiency | Progressive external ophthalmoplegia | Progressive intervertebral space narrowing | Ptosis | Ragged-red muscle fibers | Renal Fanconi syndrome | Renal tubular acidosis | Seizure | Sensorineural hearing impairment | Sensory neuropathy | Short stature | Sideroblastic anemia | Skeletal muscle atrophy | Third degree atrioventricular block | Tremor" ], "symptoms_ja_list": [ "3度房室ブロック | Dementia | Ragged-red 筋線維 | ミトコンドリア遺伝 | 下垂体前葉機能低下症 | 不整脈 | 乳酸性アシドーシス | 低身長 | 副甲状腺機能低下症 | 原発性副腎不全 | 嚥下障害 | 基底核石灰化 | 小頭 | 心筋症 | 思春期遅発 | 感覚ニューロパチー | 感音難聴 | 慢性腎疾患 | 振戦 | 片麻痺/片側不全麻痺 | 発作 | 眼瞼下垂 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 筋電図異常 | 糖尿病 | 腎尿細管アシドーシス | 腎性 Fanconi 症候群 | 腱反射減少 | 色素性網膜症 | 認知障害 | 進行性外眼筋麻痺 | 進行性椎間腔狭窄 | 運動不耐症 | 運動失調 | 鉄芽球性貧血 | 難聴 | 頸部筋虚弱 | 骨格骨化遅延 | 髄液タンパクの増加" ] }, { "id": "NANDO:2201479", "label_en": "Hereditary hypophosphatemic rickets with hypercalciuria", "label_ja": "高カルシウム尿症を伴う遺伝性低リン血性くる病", "yomigana": "こうかるしうむにょうしょうをともなういでんせいていりんけっせいくるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201479", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100145", "symptoms_en_list": [ "Abnormal circulating calcium concentration | Abnormality of the skeletal system | Autosomal recessive inheritance | Bone pain | Bowing of the legs | Bulging epiphyses | Bulging of the costochondral junction | Calcium nephrolithiasis | Deformed rib cage | Delayed epiphyseal ossification | Difficulty standing | Elevated alkaline phosphatase of bone origin | Elevated circulating alkaline phosphatase concentration | Enlargement of the ankles | Enlargement of the costochondral junction | Enlargement of the wrists | Failure to thrive | Femoral bowing | Fibular bowing | Flat occiput | Frontal bossing | Gait disturbance | Growth delay | Hypercalciuria | Hyperphosphaturia | Hypophosphatemia | Hypophosphatemic rickets | Hypotonia | Infantile onset | Kidney stone | Medullary nephrocalcinosis | Metaphyseal irregularity | Muscle weakness | Osteomalacia | Pathologic fracture | Rachitic rosary | Recurrent fractures | Reduced bone mineral density | Renal phosphate wasting | Renal tubular dysfunction | Rickets | Short stature | Sparse bone trabeculae | Thin bony cortex | Tibial bowing | Waddling gait | Widely patent fontanelles and sutures" ], "symptoms_ja_list": [ "くる病 | くる病性念珠 | よたつき歩行 | アルカリホスファターゼ上昇 | カルシウムホメオスターシスの異常 | カルシウム腎結石 | 下肢湾曲 | 低リン血症 | 低リン血症性くる病 | 低身長 | 前頭突出", "額突出 | 反復性骨折 | 変形した肋骨胸郭 | 大腿骨湾曲 | 常染色体潜性遺伝 | 平坦な後頭 | 成長遅滞 | 成長障害 (成長不全) | 手関節の拡大 | 歩行障害 | 泉門および縫合開大 | 疎な骨梁 | 病的骨折 | 突出した骨端 | 筋緊張低下 | 筋虚弱 | 肋軟骨接合部の拡大 | 肋軟骨接合部突出 | 脛骨湾曲 | 腎尿細管機能障害 | 腎性リン喪失 | 腎結石 | 腓骨湾曲 | 薄い骨皮質 | 起立困難 | 足関節の拡大 | 骨ミネラル濃度減少 | 骨幹端不規則性 | 骨格の異常 | 骨由来アルカリホスファターゼ上昇 | 骨痛 | 骨端骨化遅延 | 骨軟化症 | 髄質腎石灰化症 | 高カルシウム尿 | 高リン尿" ] }, { "id": "NANDO:2200039", "label_en": "Rosai-Dorfman disease", "label_ja": "ロサイ・ドルフマン病", "yomigana": "ろさい・どるふまんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200039", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100005", "symptoms_en_list": [ "Anemia | Erythema | Fever | Headache | Lymphadenopathy | Osteolysis | Papule | Paraplegia | Paresthesia | Seizure | Subcutaneous nodule | obsolete Dysgammaglobulinemia" ], "symptoms_ja_list": [ "リンパ節腫大 | 不全麻痺 | 丘疹 | 感覚異常 | 異常ガンマグロブリン血症 | 発作 | 発熱 | 皮下結節 | 紅斑 | 貧血 | 頭痛 | 骨融解" ] }, { "id": "NANDO:1200463", "label_en": "Costello syndrome", "label_ja": "コステロ症候群", "yomigana": "こすてろしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200463", "notificationNumber": "104", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal dental enamel morphology | Abnormal dermatoglyphics | Abnormal fingernail morphology | Abnormal hair morphology | Abnormality of the dentition | Abnormality of the skin | Acanthosis nigricans | Achilles tendon contracture | Anteverted nares | Arrhythmia | Astigmatism | Atrial septal defect | Autosomal dominant inheritance | Barrel-shaped chest | Bladder carcinoma | Bronchomalacia | Cerebral atrophy | Cerebral cortical atrophy | Chiari type I malformation | Coarse facial features | Concave nail | Cryptorchidism | Curly hair | Deep palmar crease | Deep plantar creases | Deep-set nails | Delayed skeletal maturation | Depressed nasal bridge | Downslanted palpebral fissures | Enlarged cerebellum | Epicanthus | Failure to thrive | Failure to thrive in infancy | Feeding difficulties in infancy | Fragile nails | Full cheeks | Gastroesophageal reflux | Generalized hyperpigmentation | Global developmental delay | High palate | Hoarse voice | Hydrocephalus | Hyperextensibility of the finger joints | Hyperkeratosis | Hypermetropia | Hyperpigmentation of the skin | Hypertelorism | Hypertrophic cardiomyopathy | Hypoglycemia | Hypoplastic toenails | Intellectual disability | Joint hypermobility | Keratoconus | Lack of skin elasticity | Large earlobe | Large face | Limited elbow movement | Low-set ears | Macrocephaly | Macroglossia | Micrognathia | Mitral valve prolapse | Myopia | Narrow palate | Nevus | Nystagmus | Obstructive sleep apnea | Optic disc pallor | Overgrowth | Papilloma | Pectus carinatum | Pneumothorax | Pointed chin | Polyhydramnios | Poor suck | Posteriorly rotated ears | Premature birth | Ptosis | Pulmonic stenosis | Pyloric stenosis | Redundant neck skin | Redundant skin | Renal insufficiency | Respiratory failure | Respiratory insufficiency | Rhabdomyosarcoma | Short neck | Short stature | Sparse hair | Sporadic | Strabismus | Sudden death | Talipes equinovarus | Thick lower lip vermilion | Thickened Achilles tendon | Thickened nuchal skin fold | Thin nail | Tracheomalacia | Ulnar deviation of finger | Ventricular septal defect | Ventriculomegaly | Vestibular schwannoma | Webbed neck | Wide anterior fontanel | Woolly hair" ], "symptoms_ja_list": [ "I 型Arnold-Chiari 奇形 | はと胸 | アキレス腱拘縮 | アキレス腱肥厚 | カール毛 | 上向きの鼻孔 | 不整脈 | 両眼隔離 | 乱視 | 乳児期の成長障害 (成長不全) | 乳頭腫 | 低血糖 | 低身長 | 停留精巣 | 僧帽弁逸脱 | 全般性発達遅滞 | 全身性高色素 | 内反尖足 | 内眼角贅皮 | 円錐角膜 | 凹爪 | 分厚い下口唇唇紅部 | 分厚い後部皮膚ヒダ | 前庭シュワン細胞腫 | 吸啜不全 | 呼吸不全 | 嗄声 | 大きな耳朶 | 大きな頬 | 大きな顔 | 大脳皮質萎縮 | 大脳萎縮 | 大頭 | 孤発性 | 小脳拡大 | 小顎 | 尖った下顎 | 巨舌 | 常染色体顕性遺伝 | 幅広い大泉門 | 幽門狭窄 | 心室中隔欠損 | 心房中隔欠損 | 成長障害 (成長不全) | 指の尺側偏位 | 指爪の異常 | 指関節過伸展 | 斜視 | 早産 | 横紋筋肉腫 | 樽状胸 | 歯の異常 | 歯エナメル質異常 | 母斑 | 毛髪の異常 | 気管支軟化症 | 気管軟化症 | 気胸 | 水頭症 | 深い手掌屈曲線 | 深い足底屈曲線 | 深くセットされた爪 | 狭い口蓋 | 異常な皮膚紋理 | 疎な毛髪 | 皮膚の異常 | 皮膚弾性欠如 | 皮膚高色素 | 眼振 | 眼瞼下垂 | 眼瞼裂斜下 | 知的障害 | 短い頸部 | 粗な顔貌 | 羊毛様毛髪 | 羊水過多 | 翼状頚 | 耳介低位 | 耳介後方回転 | 肘運動制限 | 肥大型心筋症 | 肺動脈狭窄 | 胃食道逆流 | 脆い爪 nails | 脳室拡大 | 腎不全 | 膀胱癌 | 落ちくぼんだ鼻梁 | 薄い爪 | 視神経杯蒼白 | 豊富な頸部皮膚 | 趾爪低形成 | 近視 | 過剰な皮膚 | 過成長 | 過角化症 | 遠視 | 閉塞性睡眠時無呼吸 | 関節過動 | 食餌摂取障害 in infancy | 骨格骨化遅延 | 高口蓋 | 黒色表皮腫" ] }, { "id": "NANDO:2201467", "label_en": "Extensive aganglionosis Hirschsprung disease", "label_ja": "小腸型ヒルシュスプルング病", "yomigana": "しょうちょうがたひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201467", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100275", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Aganglionic megacolon | Constipation | Diarrhea | Enterocolitis | Failure to thrive in infancy | Feeding difficulties | Functional abnormality of the gastrointestinal tract | Growth delay | Intestinal obstruction | Nausea and vomiting | Polyhydramnios | Sepsis | Short stature | Weight loss" ], "symptoms_ja_list": [ "下痢 | 乳児期の成長障害 (成長不全) | 低身長 | 体重喪失 | 便秘 | 吐気と 嘔吐 | 小腸結腸炎 | 成長遅滞 | 敗血症 | 無神経節性巨大結腸 | 羊水過多 | 胃腸管機能異常 | 腸閉塞 | 腹痛 | 腹部膨満 | 食餌摂取障害" ] }, { "id": "NANDO:2200526", "label_en": "Myoclonus epilepsy associated with ragged-red fibers", "label_ja": "赤色ぼろ線維・ミオクローヌスてんかん症候群", "yomigana": "せきしょくぼろせんい・みおくろーぬすてんかんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200526", "notificationNumber": "92", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [ "Abnormality of movement | Ataxia | Cognitive impairment | EMG abnormality | Generalized myoclonic seizure | Increased circulating lactate concentration | Increased circulating pyruvate concentration | Mitochondrial inheritance | Multiple lipomas | Muscle weakness | Myoclonus | Myopathy | Optic atrophy | Ragged-red muscle fibers | Seizure | Sensorineural hearing impairment | Short stature | Spasticity" ], "symptoms_ja_list": [ "Ragged-red 筋線維 | ミオクローヌス | ミオパチー | ミトコンドリア遺伝 | 低身長 | 全身性ミオクローヌス発作 | 多発性脂肪腫 | 感音難聴 | 痙性 | 発作 | 筋虚弱 | 筋電図異常 | 血清ピルビン酸増加 | 血清乳酸増加 | 視神経萎縮 | 認知障害 | 運動の異常 | 運動失調" ] }, { "id": "NANDO:2200691", "label_en": "Antithrombin deficiency", "label_ja": "先天性アンチトロンビン欠乏症", "yomigana": "せんてんせいあんちとろんびんけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200691", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100199", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201134", "label_en": "Late-onset carnitine palmitoyltransferase II deficiency", "label_ja": "遅発型カルニチンパルミトイルトランスフェラーゼII欠損症", "yomigana": "ちはつがたかるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201134", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Abnormal basal ganglia morphology | Abnormal brain morphology | Abnormality of neuronal migration | Agenesis of corpus callosum | Arrhythmia | Cardiomyopathy | Cerebellar vermis hypoplasia | Cerebral calcification | Cold-induced muscle cramps | Coma | Cystic renal dysplasia | Decreased plasma free carnitine | Decreased plasma total carnitine | Elevated circulating creatine kinase activity | Episodic abdominal pain | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced myalgia | Headache | Hepatic calcification | Hepatic failure | Hepatomegaly | Hydrocephalus | Hyperlipidemia | Hypoketotic hypoglycemia | Intermittent painful muscle spasms | Muscle weakness | Myalgia | Myoglobinuria | Myopathy | Neonatal respiratory distress | Pachygyria | Polycystic kidney dysplasia | Polymicrogyria | Reduced tissue carnitine O-palmitoyltransferase 2 activity | Renal tubular epithelial necrosis | Rhabdomyolysis | Seizure | Stage 5 chronic kidney disease | Tubulointerstitial nephritis" ], "symptoms_ja_list": [ "carnitine O-palmitoyltransferase 活性減少 | ステージ5慢性腎疾患 | ニューロン移動の異常 | ミオグロビン尿 | ミオパチー | 不整脈 | 低ケトン性低血糖 | 嚢胞性腎異形成 | 基底核の異常 | 多嚢胞性腎異形成 | 多小脳回 | 大脳石灰化 | 寒冷誘発性筋けいれん (こむらがえり) | 小脳虫部低形成 | 尿細管間質性腎炎 | 心筋症 | 急性尿細管壊死 | 新生児呼吸窮迫 | 昏睡 | 横紋筋融解 | 水頭症 | 発作 | 筋痛 | 筋虚弱 | 肝不全 | 肝石灰化 | 肝腫 | 脳回肥厚 | 脳形態の異常 | 脳梁無発生 of | 腹痛エピソード | 血清 creatine phosphokinase上昇 | 血漿フリーカルニチン減少 | 血漿総カルニチン減少 | 運動不耐症 | 運動誘発性筋けいれん | 運動誘発性筋痛 | 間歇的有痛性筋スパスム | 頭痛 | 高脂血症" ] }, { "id": "NANDO:2201127", "label_en": "Presymptomatic carnitine palmitoyltransferase I deficiency", "label_ja": "発症前型カルニチンパルミトイルトランスフェラーゼI欠損症", "yomigana": "はっしょうまえがたかるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201127", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200615", "label_en": "Congenital dyserythropoietic anemia", "label_ja": "先天性赤血球形成異常性貧血", "yomigana": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200615", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100178", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200960", "label_en": "Cornelia de lange syndrome", "label_ja": "コルネリア・デランゲ症候群", "yomigana": "こるねりあ・でらんげしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200960", "notificationNumber": "310", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal speech pattern | Abnormality of the uterus | Abnormally low-pitched voice | Anteverted nares | Anxiety | Aplasia/Hypoplasia of the cerebellum | Atresia of the external auditory canal | Atrial septal defect | Attention deficit hyperactivity disorder | Autism | Bilateral single transverse palmar creases | Blepharitis | Brachycephaly | Cataract | Cerebral cortical atrophy | Choanal atresia | Cleft palate | Clinodactyly of the 5th finger | Compulsive behaviors | Conductive hearing impairment | Congenital diaphragmatic hernia | Cryptorchidism | Curly eyelashes | Cutis marmorata | Delayed eruption of teeth | Delayed puberty | Delayed skeletal maturation | Depressed nasal bridge | Downturned corners of mouth | Elbow dislocation | Failure to thrive | Feeding difficulties in infancy | Gastroesophageal reflux | Generalized hirsutism | Glaucoma | High palate | Highly arched eyebrow | Hip dislocation | Hip dysplasia | Hypertonia | Hypoplasia of penis | Hypoplastic labia majora | Hypoplastic nipples | Hypospadias | Hypotonia | Increased nuchal translucency | Intellectual disability | Intestinal malrotation | Intrauterine growth retardation | Joint stiffness | Long eyelashes | Long philtrum | Low anterior hairline | Low posterior hairline | Macrotia | Microcephaly | Microcornea | Micrognathia | Micromelia | Multicystic kidney dysplasia | Myopia | Nystagmus | Oligodactyly | Pectus excavatum | Peripheral neuropathy | Phthisis bulbi | Posteriorly rotated ears | Premature birth | Prenatal movement abnormality | Primary amenorrhea | Proximal placement of thumb | Ptosis | Pyloric stenosis | Radioulnar synostosis | Renal insufficiency | Seizure | Sensorineural hearing impairment | Severe intellectual disability | Severe postnatal growth retardation | Short 1st metacarpal | Short foot | Short neck | Short nose | Short stature | Sleep disturbance | Small hand | Strabismus | Synophrys | Talipes | Thick eyebrow | Thin vermilion border | Toe syndactyly | Truncal obesity | Ventricular septal defect | Ventriculomegaly | Vesicoureteral reflux | Volvulus | Widely spaced teeth" ], "symptoms_ja_list": [ "カールした睫毛 | 上向きの鼻孔 | 不安 | 両側性単一手掌横線 | 乏指趾症 | 乳頭低形成 | 伝音難聴 | 低い前部毛髪線 | 低身長 | 体幹肥満 | 停留精巣 | 先天性横隔膜ヘルニア | 全身性多毛 | 出生前の運動異常 | 分厚い眉毛 | 原発性無月経 | 口蓋裂 | 口角下垂 | 合趾症 | 外耳道閉鎖 | 多嚢胞腎異形成 | 大理石皮膚 | 大耳 | 大脳皮質萎縮 | 大陰唇低形成 | 子宮内成長遅滞 | 子宮異常 | 小さい手 | 小肢症 | 小脳無形成/低形成 | 小角膜 | 小頭 | 小顎 | 尖足 | 尿道下裂 | 幽門狭窄 | 強迫性行動 | 後部毛髪線低位 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 思春期遅発 | 感音難聴 | 成長障害 (成長不全) | 斜視 | 早産 | 末梢神経ニューロパチー | 橈尺骨癒合 | 歯萠出遅延 | 歯間隔離 | 注意力欠陥多動性疾患 | 漏斗胸 | 異常に低音の声 | 発作 | 白内障 | 眼振 | 眼球癆 | 眼瞼下垂 | 眼瞼炎 | 睡眠障害 | 知的障害 | 知的障害", "重度 | 短い第1中手骨 | 短い足 | 短い頸部 | 短い鼻 | 短頭 | 神経学的発語障害 | 第5指弯指 | 筋緊張亢進 | 筋緊張低下 | 緑内障 | 耳介後方回転 | 肘脱臼 | 股関節異形成 | 股関節脱臼 | 胃食道逆流 | 脳室拡大 | 腎不全 | 腸回転異常 | 腸捻転 | 膀胱尿管逆流 | 自閉症 | 落ちくぼんだ鼻梁 | 薄い唇紅部縁 | 近位母指 | 近視 | 連続眉毛 | 重度の生後の成長遅滞 | 長い人中 | 長い睫毛 | 関節拘縮 | 陰茎低形成 | 項部透過性増加 | 食餌摂取障害 in infancy | 骨格骨化遅延 | 高位の弓形眉毛 | 高口蓋" ] }, { "id": "NANDO:2200669", "label_en": "ADP receptor deficiencies", "label_ja": "ADP受容体異常症", "yomigana": "えーでぃーぴーじゅようたいいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200669", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [ "Abnormal bleeding | Autosomal recessive inheritance | Bruising susceptibility | Epistaxis | Impaired ADP-induced platelet aggregation | Persistent bleeding after trauma | Prolonged bleeding after surgery" ], "symptoms_ja_list": [ "ADP-誘発性血小板凝集障害 | 出血傾向 | 外傷後の持続性出血 | 常染色体潜性遺伝 | 異常な出血 | 術後の遷延性出血 | 鼻出血" ] }, { "id": "NANDO:1200523", "label_en": "Dystonia 12", "label_ja": "DYT12ジストニア", "yomigana": "でぃーわいてぃー12じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200523", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Anxiety | Autosomal dominant inheritance | Bradykinesia | Bulbar signs | Cerebellar atrophy | Childhood onset | Craniofacial dystonia | Depression | Drooling | Dysarthria | Dysphagia | Dystonia | Emotional lability | Gait ataxia | Generalized hypotonia | Hypomimic face | Juvenile onset | Limb dystonia | Motor delay | Mutism | Parkinsonism | Postural instability | Resting tremor | Seizure | Torticollis | Tremor | Typified by incomplete penetrance | Unsteady gait | Young adult onset" ], "symptoms_ja_list": [ "うつ | ジストニア | パーキンソン症候群 | 不安 | 不安定歩行 | 仮面顔 | 全身性筋緊張低下 | 嚥下障害 | 四肢ジストニア | 姿勢不安定 | 安静時振戦 | 小脳萎縮 | 常染色体顕性遺伝 | 情動不安定 | 振戦 | 斜頚 | 構音障害 | 歩行失調 | 流涎 | 無言症 | 球症状 | 発作 | 運動発達遅滞 | 運動緩徐 | 頭蓋顔面ジストニア" ] }, { "id": "NANDO:2200169", "label_en": "Horseshoe kidney", "label_ja": "馬蹄腎", "yomigana": "ばていじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200169", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200134", "label_en": "Schindler disease", "label_ja": "シンドラー病", "yomigana": "しんどらーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200134", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Autism | Blindness | Cardiomegaly | Cataract | Cerebellar hypoplasia | Cerebral cortical atrophy | Clonus | Coarse facial features | Constipation | Developmental regression | Gastroesophageal reflux | Global developmental delay | Hearing impairment | Hypotonia | Intellectual disability | Lymphedema | Nystagmus | Oligosacchariduria | Peripheral neuropathy | Recurrent pneumonia | Scoliosis | Seizure | Spasticity | Strabismus | Tetraplegia | Thick vermilion border | Vascular skin abnormality | Vertigo" ], "symptoms_ja_list": [ "オリゴ糖尿 | クローヌス | リンパ性浮腫 | 便秘 | 側弯 | 全般性発達遅滞 | 分厚い唇紅部縁 | 反復性肺炎 | 四肢麻痺 | 大脳皮質萎縮 | 小脳低形成 | 心拡大 | 斜視 | 末梢神経ニューロパチー | 痙性 | 発作 | 発達退行 | 白内障 | 盲 | 眩暈 | 眼振 | 知的障害 | 筋緊張低下 | 粗な顔貌 | 胃食道逆流 | 自閉症 | 血管皮膚異常 | 難聴" ] }, { "id": "NANDO:2200633", "label_en": "Stomatocytic xerocytosis", "label_ja": "Stomatocytic Xerocytosis", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_2200633", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [ "Abdominal pain | Abnormal circulating potassium concentration | Anemia of inadequate production | Cholelithiasis | Congenital hemolytic anemia | Edema | Episodic fatigue | Hemolytic anemia | Increased circulating ferritin concentration | Increased circulating hemoglobin concentration | Increased mean corpuscular volume | Increased red cell osmotic fragility | Increased total bilirubin | Intermittent jaundice | Macrocytic anemia | Neonatal hyperbilirubinemia | Nonspherocytic hemolytic anemia | Polycythemia | Reticulocytosis | Schistocytosis | Splenomegaly | Thromboembolism" ], "symptoms_ja_list": [ "カリウムホメオスターシスの異常 | ヘモグロビン増加 | 不適切な産生貧血 | 先天性溶血性貧血 | 分裂赤血球増加症 | 多血症 | 大球性貧血 | 巨大赤血球症 | 新生児高ビリルビン血症 | 浮腫 | 溶血性貧血 | 疲労エピソード | 網状赤血球増多症 | 総ビリルビン増加 | 胆石症 | 脾腫 | 腹痛 | 血栓塞栓症 | 血清フェリチン増加 | 赤血球浸透圧脆弱性の増加 | 間歇的黄疸 | 非球状赤血球性溶血性貧血" ] }, { "id": "NANDO:1201141", "label_en": "Intra- and extrahepatic primary sclerosing cholangitis", "label_ja": "肝内外型原発性硬化性胆管炎", "yomigana": "かんないがいがたげんぱつせいこうかせいたんかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201141", "notificationNumber": "94", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200485", "label_en": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "label_ja": "高オルニチン血症・高アンモニア血症・ホモシトルリン尿症症候群", "yomigana": "こうおるにちんけっしょう・こうあんもにあけっしょう・ほもしとるりんにょうしょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200485", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal circulating citrulline concentration | Abnormal pyramidal sign | Abnormality of the coagulation cascade | Acute encephalopathy | Acute hepatitis | Autosomal recessive inheritance | Cerebral cortical atrophy | Chorioretinal atrophy | Clonus | Cognitive impairment | Coma | Confusion | Decreased liver function | Decreased nerve conduction velocity | Dysdiadochokinesis | Dysmetria | Elevated circulating hepatic transaminase concentration | Episodic vomiting | Failure to thrive | Feeding difficulties | Fundus hypopigmentation | Generalized hypotonia | Generalized myoclonic seizure | Global developmental delay | Hepatic failure | Hepatitis | Hepatomegaly | Hyperammonemia | Hyperornithinemia | Hyperreflexia | Hypotonia | Impaired vibratory sensation | Incoordination | Infantile onset | Intellectual disability | Juvenile onset | Lethargy | Motor delay | Multifocal cerebral white matter abnormalities | Neurodevelopmental delay | Oroticaciduria | Progressive cerebellar ataxia | Protein avoidance | Respiratory alkalosis | Scanning speech | Seizure | Severe intellectual disability | Spastic diplegia | Spastic gait | Spastic paraparesis | Spastic paraplegia | Spasticity | Specific learning disability | Speech apraxia | Tachypnea | Truncal ataxia" ], "symptoms_ja_list": [ "オロチン酸尿 | クローヌス | シトルリン代謝の異常 | 体幹失調 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性筋緊張低下 | 凝固カスケードの異常 | 協調運動障害 | 反射亢進 | 嘔吐エピソード | 多呼吸 | 多巣性大脳白質異常 | 大脳皮質萎縮 | 常染色体潜性遺伝 | 急性肝炎 | 急性脳症 | 成長障害 (成長不全) | 拮抗運動反復不全 | 振動覚障害 | 断綴言 | 昏睡 | 活性減少アルカローシス | 測定障害 | 無気力 | 特異的学習障害 | 痙性 | 痙性両麻痺 | 痙性対不全麻痺 | 痙性対麻痺 | 痙性歩行 | 発作 | 発語失行症 | 眼底低色素 | 知的障害 | 知的障害", "重度 | 神経活動電位の振幅減少 | 神経発生遅延 | 筋緊張低下 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝機能低下 | 肝炎 | 肝腫 | 脈絡膜網膜萎縮 | 蛋白回避 | 認知障害 | 進行性小脳失調 | 運動発達遅滞 | 錐体路運動機能の異常 | 錯乱 | 食餌摂取障害 | 高アンモニア血症 | 高オルニチン血症" ] }, { "id": "NANDO:2201410", "label_en": "Pyridoxine-dependent seizures", "label_ja": "ピリドキシン依存性てんかん", "yomigana": "ぴりどきしんいぞんせいてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_2201410", "notificationNumber": "99", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100302", "symptoms_en_list": [ "Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Delayed speech and language development | EEG with burst suppression | Generalized myoclonic seizure | Global developmental delay | Hydrocephalus | Hypotonia | Intellectual disability | Neonatal onset | Neonatal respiratory distress | Prenatal movement abnormality | Status epilepticus | Strabismus" ], "symptoms_ja_list": [ "てんかん重積 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 出生前の運動異常 | 常染色体潜性遺伝 | 斜視 | 新生児呼吸窮迫 | 水頭症 | 発語および言語発達遅延 | 知的障害 | 筋緊張低下 | 群発‐抑制交代を伴う脳波" ] }, { "id": "NANDO:1200771", "label_en": "Rhizomelic chondrodysplasia punctata type 2", "label_ja": "根性点状軟骨異形成症2型", "yomigana": "こんじょうてんじょうなんこついけいせいしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200771", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal pelvic girdle bone morphology | Anteverted nares | Autosomal recessive inheritance | Calcific stippling | Cataract | Congenital onset | Coronal cleft vertebrae | Depressed nasal bridge | Disproportionate short stature | Epiphyseal stippling | Failure to thrive | Flexion contracture | Generalized hypotonia | High forehead | High palate | Hip contracture | Hypotonia | Inguinal hernia | Intellectual disability | Irregular vertebral endplates | Large fontanelles | Microcephaly | Micrognathia | Midface retrusion | Optic nerve hypoplasia | Osteopenia | Rhizomelia | Scoliosis | Severe intellectual disability | Short humerus | Short stature | Stippled calcification proximal humeral epiphyses | Submucous cleft hard palate | Tetralogy of Fallot | Wide nasal bridge | Zonular cataract" ], "symptoms_ja_list": [ "Fallot 四徴症 | 上向きの鼻孔 | 不均衡型低身長 | 不規則な脊椎終板 | 低身長 | 側弯 | 全身性筋緊張低下 | 冠状脊椎裂 | 四肢近位短縮 | 大きな泉門 | 小頭 | 小顎 | 屈曲拘縮 | 層間白内障 | 常染色体潜性遺伝 | 幅広い鼻梁 | 成長障害 (成長不全) | 点状石灰化 | 白内障 | 知的障害 | 知的障害", "重度 | 短い上腕骨 | 筋緊張低下 | 粘膜下硬口蓋裂 | 股関節拘縮 | 落ちくぼんだ鼻梁 | 視神経低形成 | 近位上腕骨骨端の点状石灰化 | 顔面中部後退 | 骨減少症 | 骨盤帯骨の形態異常 | 骨端点状石灰化 | 高い額 | 高口蓋 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200129", "label_en": "Rapidly progressive glomerulonephritis due to microscopic poly-angitis", "label_ja": "急速進行性糸球体腎炎（顕微鏡的多発血管炎によるものに限る。）", "yomigana": "きゅうそくしんこうせいしきゅうたいじんえん（けんびきょうてきたはつけっかんえんによるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200129", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201145", "label_en": "Infant-onset medium-chain acyl-CoA dehydrogenase deficiency", "label_ja": "乳児期発症型中鎖アシルCoA脱水素酵素欠損症", "yomigana": "にゅうじきはっしょうがたちゅうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201145", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200202", "label_en": "Pulmonary alveolar microlithiasis", "label_ja": "肺胞微石症", "yomigana": "はいほうびせきしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200202", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100033", "symptoms_en_list": [ "Abnormal circulating calcium concentration | Abnormal circulating phosphate ion concentration | Autosomal recessive inheritance | Bronchiectasis | Bronchitis | Calcification of the aorta | Calcium nephrolithiasis | Chest pain | Childhood onset | Clubbing of fingers | Cyanosis | Decreased fertility | Dyspnea | Ectopic calcification | Exertional dyspnea | Fatigable weakness | Fatigue | Fever | Gonadal calcification | Hematuria | Hemoptysis | Hepatomegaly | Hypoxemia | Increased pulmonary vascular resistance | Intraalveolar nodular calcifications | Juvenile onset | Mitral valve calcification | Peripheral edema | Pneumothorax | Progressive pulmonary function impairment | Pulmonary fibrosis | Pulmonary infiltrates | Respiratory failure | Respiratory insufficiency | Respiratory tract infection | Restrictive ventilatory defect | Right ventricular failure | Slowly progressive | Stippled calcification in carpal bones | Tachypnea | Testicular microlithiasis | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "ばち指 | カルシウムホメオスターシスの異常 | カルシウム腎結石 | チアノーゼ | リンのホメオスターシスの異常 | 低酸素血症への感受性の減少 | 体重喪失 | 僧帽弁石灰化 | 共通 | 右室不全 | 呼吸不全 | 呼吸器感染 | 呼吸困難 | 喀血 | 多呼吸 | 大動脈石灰化 | 妊孕性減少 | 常染色体潜性遺伝 | 性腺石灰化 | 手根骨の点状石灰化 | 拘束性肺疾患 | 末梢性浮腫 | 気管支拡張 | 気管支炎 | 気胸 | 異所性石灰化 | 疲労 | 疲労性虚弱 | 発熱 | 精巣微小結石症 | 肝腫 | 肺浸潤 | 肺線維症 | 肺胞内結節性石灰化 | 肺血管抵抗の増加 | 血尿 | 進行性肺機能障害 | 運動性呼吸困難" ] }, { "id": "NANDO:1201119", "label_en": "olivopontocerebellar atrophy", "label_ja": "オリーブ橋小脳萎縮症", "yomigana": "おりーぶきょうしょうのういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201119", "notificationNumber": "17", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200948", "label_en": "Congenital Isolated Hypoganglionosis", "label_ja": "腸管神経節細胞僅少症", "yomigana": "ちょうかんしんけいせつさいぼうきんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200948", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100275", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Aganglionic megacolon | Autosomal recessive inheritance | Constipation | Diarrhea | Enterocolitis | Failure to thrive in infancy | Feeding difficulties | Functional abnormality of the gastrointestinal tract | Growth delay | Intestinal obstruction | Nausea and vomiting | Polyhydramnios | Sepsis | Short stature | Total intestinal aganglionosis | Weight loss" ], "symptoms_ja_list": [ "下痢 | 乳児期の成長障害 (成長不全) | 低身長 | 体重喪失 | 便秘 | 全腸無神経節症 | 吐気と 嘔吐 | 小腸結腸炎 | 常染色体潜性遺伝 | 成長遅滞 | 敗血症 | 無神経節性巨大結腸 | 羊水過多 | 胃腸管機能異常 | 腸閉塞 | 腹痛 | 腹部膨満 | 食餌摂取障害" ] }, { "id": "NANDO:2200488", "label_en": "Lysinuric protein intolerance", "label_ja": "リジン尿性蛋白不耐症", "yomigana": "りじんにょうせいたんぱくふたいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200488", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal bleeding | Abnormal circulating immunoglobulin concentration | Abnormal circulating serine concentration | Abnormal heart morphology | Abnormal pulmonary interstitial morphology | Abnormal renal tubule morphology | Abnormality of humoral immunity | Aminoaciduria | Anemia | Antinuclear antibody positivity | Argininuria | Autosomal recessive inheritance | Chronic kidney disease | Cirrhosis | Cognitive impairment | Coma | Cutis laxa | Decreased circulating HDL-C concentration | Decreased circulating immunoglobulin concentration | Decreased glomerular filtration rate | Decreased response to growth hormone stimulation test | Decreased total leukocyte count | Delayed skeletal maturation | Diarrhea | Elevated circulating LDL-C concentration | Elevated circulating hepatic transaminase concentration | Elevated plasma citrulline | Failure to thrive | Feeding difficulties | Fine hair | Floppy infant | Global developmental delay | Glomerulonephritis | Growth delay | Hematuria | Hemophagocytosis | Hepatic amyloidosis | Hepatic failure | Hepatomegaly | Hepatosplenomegaly | Hyperalaninemia | Hyperammonemia | Hypercholesterolemia | Hyperextensible skin | Hyperglutaminemia | Hyperglycinemia | Hyperlysinuria | Hyperprolinemia | Hypertension | Hypertriglyceridemia | Hypofibrinogenemia | Hypotonia | Increased circulating ferritin concentration | Increased circulating immunoglobulin concentration | Increased circulating lactate concentration | Increased serum zinc | Infantile onset | Intellectual disability | Intraalveolar phospholipid accumulation | Lethargy | Malnutrition | Megakaryocytopenia | Membranous nephropathy | Muscle weakness | Nausea | Nephrocalcinosis | Oral aversion | Ornithinuria | Oroticaciduria | Osteopenia | Osteoporosis | Pancreatitis | Pathologic fracture | Protein avoidance | Proteinuria | Psychotic episodes | Pulmonary fibrosis | Recurrent bacterial infections | Recurrent fractures | Reduced circulating complement concentration | Renal amyloidosis | Renal tubular acidosis | Renal tubular dysfunction | Respiratory insufficiency | Short stature | Skeletal muscle atrophy | Sparse hair | Splenomegaly | Stage 5 chronic kidney disease | Steatorrhea | Thrombocytopenia | Truncal obesity | Tubulointerstitial nephritis | Vomiting" ], "symptoms_ja_list": [ "アミノ酸尿 | アルギニン尿症 | オルニチン尿 | オロチン酸尿 | ステージ5慢性腎疾患 | セリン代謝の異常 | 下痢 | 乳児筋性筋緊張低下 | 低ガンマグロブリン血症 | 低フィブリノーゲン血症 | 低身長 | 体幹肥満 | 免疫グロブリン値異常 | 全般性発達遅滞 | 反復性細菌感染症 | 反復性骨折 | 口嫌悪 | 吐気 | 呼吸不全 | 嘔吐 | 尿細管間質性腎炎 | 巨核球減少症 | 常染色体潜性遺伝 | 弛緩性皮膚 | 心形態の異常 | 慢性腎疾患 | 成長ホルモン欠乏症 | 成長遅滞 | 成長障害 (成長不全) | 抗核抗体陽性 | 昏睡 | 栄養失調 | 液性免疫の異常 | 無気力 | 異常な出血 | 疎な毛髪 | 病的骨折 | 白血球減少症 | 知的障害 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 精神病エピソード | 糸球体濾過率減少 | 糸球体腎炎 | 細い毛髪 | 肝アミロイドーシス | 肝トランスアミナーゼ上昇 | 肝不全 | 肝硬変 | 肝脾腫 | 肝腫 | 肺線維症 | 肺胞タンパク沈着症 | 脂肪便 | 脾腫 | 腎アミロイド症 | 腎尿細管アシドーシス | 腎尿細管機能障害 | 腎尿細管異常 | 腎石灰化症 | 膜性腎症 | 膵炎 | 蛋白回避 | 蛋白尿 | 血小板減少 | 血尿 | 血液貪食症 | 血清フェリチン増加 | 血清乳酸増加 | 血清亜鉛増加 | 血漿シトルリン上昇 | 補体欠乏症 | 認知障害 | 貧血 | 過伸展皮膚 | 間質性肺疾患 | 食餌摂取障害 | 骨格骨化遅延 | 骨減少症 | 骨粗鬆症 | 高αリポ蛋白血症 | 高βリポタンパク血症 | 高アラニン血症 | 高アンモニア血症 | 高ガンマグロブリン血症 | 高グリシン血症 | 高グルタミン血症 | 高コレステロール血症 | 高トリグリセリド血症 | 高プロリン血症 | 高リジン尿 | 高血圧" ] }, { "id": "NANDO:1200895", "label_en": "Moderate Epstein syndrome", "label_ja": "中等症エプスタイン症候群", "yomigana": "ちゅうとうしょうえぷすたいんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200895", "notificationNumber": "287", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200416", "label_en": "Systemic lupus erythematosus", "label_ja": "全身性エリテマトーデス", "yomigana": "ぜんしんせいえりてまとーです", "url": "http://nanbyodata.jp/ontology/NANDO_2200416", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [ "Abnormal pigmentation of the oral mucosa | Abnormality of salivation | Alopecia | Anorexia | Antineutrophil antibody positivity | Antinuclear antibody positivity | Antiphospholipid antibody positivity | Arthritis | Autosomal dominant inheritance | Cheilitis | Chorea | Cutaneous photosensitivity | Decreased circulating complement C3 concentration | Decreased total leukocyte count | Depression | Discoid lupus rash | Fatigue | Fever | Hematuria | Hemolytic anemia | Hypertension | Lymphadenopathy | Nephritis | Oral ulcer | Pericarditis | Pleuritis | Polyarticular arthritis | Proteinuria | Psychosis | Pyuria | Retinopathy | Seizure | Systemic lupus erythematosus | Thrombocytopenia | Vasculitis in the skin | Weight loss" ], "symptoms_ja_list": [ "うつ | リンパ節腫大 | 体重喪失 | 全身性紅斑性狼瘡 | 円板状紅斑性狼瘡 | 口唇炎 | 口腔潰瘍 | 唾液分泌の異常 | 多関節関節炎 | 常染色体顕性遺伝 | 心外膜炎 | 抗リン脂質抗体陽性 | 抗好中球抗体陽性 | 抗核抗体陽性 | 溶血性貧血 | 異常な口腔粘膜色素沈着 | 疲労 | 発作 | 発熱 | 白血球減少症 | 皮膚光線過敏症 | 皮膚血管炎 | 禿頭 | 精神病 | 網膜症 | 胸膜炎 | 腎炎 | 膿尿 | 舞踏病 | 蛋白尿 | 血小板減少 | 血尿 | 血清補体 C3減少 | 関節炎 | 食思不振 | 高血圧" ] }, { "id": "NANDO:2201416", "label_en": "Bainbridge–Ropers syndrome", "label_ja": "バインブリッジ・ロパース症候群", "yomigana": "ばいんぶりっじ・ろぱーすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201416", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal speech pattern | Abnormality of the skeletal system | Absent speech | Anteverted nares | Arachnodactyly | Autism | Autistic behavior | Autosomal dominant inheritance | Breech presentation | Broad nasal tip | Bulbous nose | Caesarean section | Cerebellar vermis hypoplasia | Choanal stenosis | Contracture of the proximal interphalangeal joint of the 4th finger | Cryptorchidism | Death in infancy | Decreased facial expression | Deep palmar crease | Deeply set eye | Delayed speech and language development | Dental crowding | Depressed nasal bridge | Disproportionate tall stature | Dolichocephaly | Downslanted palpebral fissures | Epicanthus | Everted lower lip vermilion | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Floppy infant | Gastroesophageal reflux | Generalized hypotonia | Gingival overgrowth | Global developmental delay | Growth delay | Hand clenching | High palate | High", "narrow palate | Highly arched eyebrow | Hirsutism | Hypermetropia | Hypertelorism | Hypertonia | Hypoplasia of the corpus callosum | Hypotonia | Inability to walk | Inferior cerebellar vermis hypoplasia | Intellectual disability | Intestinal malrotation | Intrauterine growth retardation | Large fontanelles | Laryngomalacia | Lateral ventricle dilatation | Long eyelashes | Long nose | Low hanging columella | Low-set ears | Malar flattening | Metopic synostosis | Microcephaly | Micrognathia | Moderate intellectual disability | Motor stereotypy | Open mouth | Periorbital fullness | Pes planus | Polyhydramnios | Posteriorly rotated ears | Precocious puberty | Profound intellectual disability | Prominent forehead | Prominent nasal bridge | Proptosis | Recurrent hand flapping | Recurrent infections | Retrognathia | Scoliosis | Seizure | Self-injurious behavior | Severe global developmental delay | Severe intellectual disability | Short chin | Short columella | Short nose | Sleep disturbance | Sloping forehead | Sparse hair | Strabismus | Supernumerary nipple | Synophrys | Thick eyebrow | Thin upper lip vermilion | Trigonocephaly | Ulnar deviation of the hand | Underdeveloped nasal alae | Upslanted palpebral fissure | Vomiting | Wide mouth | Wide nasal bridge" ], "symptoms_ja_list": [ "くも指 | 三角頭蓋 | 上向きの鼻孔 | 下口唇唇紅部外反 | 下小脳虫部低形成 | 下顎後退 | 不均衡型高身長 | 両眼隔離 | 乳児筋性筋緊張低下 | 人字縫合早期癒合 | 低い垂れ下がった鼻小柱 | 停留精巣 | 側弯 | 側脳室拡大 | 全般性発達遅滞 | 全身性筋緊張低下 | 内眼角贅皮 | 分厚い眉毛 | 副甲状腺乳頭 | 反復性の手 | 反復性感染症 | 喉頭軟化症 | 嘔吐 | 多毛 | 大きな泉門 | 大きな眼窩周囲 | 大脳白質の異常 | 子宮内成長遅滞 | 小脳虫部低形成 | 小頭 | 小顎 | 帝王切開 | 常同行動 | 常染色体顕性遺伝 | 幅広い口 | 幅広い鼻尖 | 幅広い鼻梁 | 平坦な頬 | 後鼻孔狭窄 | 思春期早発 | 成長遅滞 | 成長障害 (成長不全) | 扁平足 | 手の尺側偏位 | 握り手 | 斜視 | 歩行不能 | 歯混雑 | 歯肉過成長 | 深い手掌屈曲線 | 球状の鼻 | 疎な毛髪 | 発作 | 発語および言語発達遅延 | 発語欠損 | 目立つ額 | 目立つ鼻梁 | 眼球突出 | 眼瞼裂斜上 | 眼瞼裂斜下 | 睡眠障害 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "最重度 | 知的障害", "重度 | 短い下顎 | 短い鼻 | 短い鼻小柱 | 神経学的発語障害 | 第4指近位指間(PIP)関節拘縮 | 筋緊張亢進 | 筋緊張低下 | 羊水過多 | 耳介低位 | 耳介後方回転 | 胃食道逆流 | 脳梁低形成 | 腸回転異常 | 自傷行動 | 自閉性行動 | 自閉症 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 表情の減少 | 連続眉毛 | 遠視 | 重度の全般性発達遅滞 | 長い睫毛 | 長い鼻 | 長頭 | 開口 | 額傾斜 | 食餌摂取障害 | 食餌摂取障害 in infancy | 骨格の異常 | 骨盤位 | 高位の弓形眉毛 | 高口蓋 | 高狭口蓋 | 鼻翼未発達" ] }, { "id": "NANDO:2201350", "label_en": "Kniest dysplasia", "label_ja": "Kniest異形成症", "yomigana": "くにーすといけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201350", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal bone structure | Abnormal cartilage collagen | Abnormal joint morphology | Abnormality of the epiphysis of the femoral head | Abnormality of the respiratory system | Anterior vertebral fusion | Aplasia/Hypoplasia of the lens | Aplasia/hypoplasia of the extremities | Arthropathy | Autosomal dominant inheritance | Bell-shaped thorax | Bilateral ptosis | Cataract | Cervical spine instability | Cleft palate | Conductive hearing impairment | Congenital onset | Coronal cleft vertebrae | Coxa vara | Degenerative vitreoretinopathy | Delayed epiphyseal ossification | Delayed patellar ossification | Depressed nasal bridge | Disproportionate short stature | Disproportionate short-trunk short stature | Dumbbell-shaped femur | Dumbbell-shaped long bone | Enlarged epiphyses | Enlarged joints | Enlarged metaphyses | Flared metaphysis | Flattened", "squared-off epiphyses of tubular bones | Flexion contracture of finger | Fused cervical vertebrae | Gait disturbance | Genu varum | Hearing impairment | High myopia | Hip contracture | Hip dislocation | Hypoplasia of the odontoid process | Hypoplastic pelvis | Inguinal hernia | Joint stiffness | Keratan sulfate excretion in urine | Laryngotracheomalacia | Lattice retinal degeneration | Lens luxation | Limitation of joint mobility | Lumbar kyphoscoliosis | Macrocephaly | Malar flattening | Metaphyseal widening | Midface retrusion | Motor delay | Myopia | Pectus excavatum | Pierre-Robin sequence | Platyspondyly | Proptosis | Recurrent otitis media | Respiratory distress | Retinal detachment | Rhegmatogenous retinal detachment | Rhizomelia | Round face | Short long bone | Short neck | Short thorax | Spinal cord compression | Splayed epiphyses | Tibial bowing | Tracheomalacia | Umbilical hernia | Vertebral wedging | Vitreoretinopathy" ], "symptoms_ja_list": [ "Pierre-Robin シークェンス | ダンベル型大腿骨 | ダンベル型長管骨 | ベル型胸 | 不均衡型低身長 | 不均衡性短躯低身長 | 両側性眼瞼下垂 | 丸い顔 | 伝音難聴 | 内反股 | 内反膝 | 冠状脊椎裂 | 反復性中耳炎 | 口蓋裂 | 呼吸器の異常 | 呼吸窮迫 | 喉頭気管軟化症 | 四肢無形成/低形成 | 四肢近位短縮 | 変性性硝子体網膜症 | 大腿骨頭骨端の異常 | 大頭 | 尿中硫酸ケラタン排泄 | 常染色体顕性遺伝 | 平坦な頬 | 扁平脊椎 | 拡大した骨端 | 指屈曲拘縮 | 格子性網膜 変性 | 楔状脊椎骨 | 歩行障害 | 歯状突起低形成 | 気管軟化症 | 水晶体無形成/低形成 | 水晶体脱臼 | 漏斗胸 | 白内障 | 眼球突出 | 短い胸郭 | 短い長管骨 | 短い頸部 | 破裂性網膜剥離 | 硝子体網膜移乗 | 網膜剥離 | 股関節拘縮 | 股関節脱臼 | 脊髄圧迫 | 脛骨湾曲 | 腰椎後側弯 | 膝蓋骨骨化遅延 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 軟骨コラーゲン異常 | 近視 | 運動発達遅滞 | 遠方脊椎癒合 | 重度近視 | 長管骨の平坦で四角い骨端 | 関節の拡大 | 関節形態異常 | 関節拘縮 | 関節症 | 関節運動制限 | 難聴 | 頚椎不安定 | 頚椎癒合 | 顔面中部後退 | 骨幹端の拡大 | 骨幹端フレア | 骨幹端拡大 | 骨構造異常 | 骨盤低形成 | 骨端拡大 | 骨端骨化遅延 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201461", "label_en": "Unilateral renal agenesis", "label_ja": "一側腎無形成", "yomigana": "いっそくじんむけいせい", "url": "http://nanbyodata.jp/ontology/NANDO_2201461", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200506", "label_en": "Inborn errors of bile acid metabolism", "label_ja": "先天性胆汁酸代謝異常症", "yomigana": "せんてんせいたんじゅうさんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200506", "notificationNumber": "104", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200256", "label_en": "Type IV Takayasu arteritis", "label_ja": "高安動脈炎（IV型）", "yomigana": "たかやすどうみゃくえん（4がた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200256", "notificationNumber": "40", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200466", "label_en": "Familial cold autoinflammatorysyndrome", "label_ja": "家族性寒冷自己炎症性症候群", "yomigana": "かぞくせいかんれいじこえんしょうせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200466", "notificationNumber": "106", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Arthralgia | Arthritis | Conjunctivitis | Dehydration | Dysesthesia | Erythema | Fatigue | Fever | Headache | Hyperhidrosis | Myalgia | Nausea and vomiting | Polydipsia | Pruritus | Sensorineural hearing impairment | Urticaria" ], "symptoms_ja_list": [ "吐気と 嘔吐 | 多汗 | 多飲 | 感覚異常 | 感音難聴 | 掻痒 | 疲労 | 発熱 | 筋痛 | 紅斑 | 結膜炎 | 脱水 | 腹痛 | 蕁麻疹 | 関節炎 | 関節痛 | 頭痛" ] }, { "id": "NANDO:2200689", "label_en": "Protein C deficiency", "label_ja": "先天性プロテインC欠乏症", "yomigana": "せんてんせいぷろていんしーけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200689", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100197", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Abnormal skin pigmentation | Aplasia/Hypoplasia of the skin | Gangrene | Pulmonary embolism | Purpura | Thin skin | Venous insufficiency | Venous thrombosis | Warfarin-induced skin necrosis" ], "symptoms_ja_list": [ "ワーファリン誘発性皮膚壊死 | 壊疽 | 大脳血管の異常 | 皮膚無形成/低形成 | 皮膚色素の異常 | 紫斑 | 肺塞栓症 | 薄い皮膚 | 静脈不全 | 静脈血栓症" ] }, { "id": "NANDO:2200642", "label_en": "Stem cell transplant-associated thrombotic microangiopathy", "label_ja": "造血幹細胞移植後血栓性微小血管障害症", "yomigana": "ぞうけつかんさいぼういしょくごけっせんせいびしょうけっかんしょうがいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200642", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100185", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201038", "label_en": "Bilateral retinoblastoma", "label_ja": "両側性網膜芽細胞腫", "yomigana": "りょうそくせいもうまくがさいぼうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2201038", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200007", "label_en": "Acute promyelocytic leukemia", "label_ja": "急性前骨髄球性白血病", "yomigana": "きゅうせいぜんこつずいきゅうせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200007", "notificationNumber": "74", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [ "Abdominal pain | Abnormal bleeding | Abnormal granulocytopoietic cell morphology | Acute promyelocytic leukemia | Anemia | Anorexia | Bone pain | Bruising susceptibility | Decreased total leukocyte count | Decreased total neutrophil count | Disseminated intravascular coagulation | Epistaxis | Exertional dyspnea | Fatigue | Fever | Gangrene | Gingival bleeding | Gingival overgrowth | Hematuria | Hypofibrinogenemia | Increased total leukocyte count | Lymphadenopathy | Metrorrhagia | Muscle weakness | Pancytopenia | Petechiae | Purpura | Stomatitis | Thrombocytopenia | Typified by somatic mosaicism | Vertigo | Weight loss" ], "symptoms_ja_list": [ "リンパ節腫大 | 不正子宮出血 | 低フィブリノーゲン血症 | 体細胞モザイク | 体重喪失 | 出血傾向 | 口内炎 | 壊疽 | 好中球減少症 | 急性前骨髄球性白血病 | 播種性血管内凝固 | 歯肉出血 | 歯肉過成長 | 汎血球減少症 | 点状出血 | 異常な出血 | 疲労 | 発熱 | 白血球増多症 | 白血球減少症 | 眩暈 | 筋虚弱 | 紫斑 | 腹痛 | 血小板減少 | 血尿 | 貧血 | 運動性呼吸困難 | 顆粒球系細胞の異常 | 食思不振 | 骨痛 | 鼻出血" ] }, { "id": "NANDO:2200523", "label_en": "Mitochondrial DNA depletion syndrome", "label_ja": "ミトコンドリアDNA枯渇症候群", "yomigana": "みとこんどりあでぃーえぬえーこかつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200523", "notificationNumber": "91", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200028", "label_en": "Baló concentric sclerosis", "label_ja": "Baló病", "yomigana": "ばろーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200028", "notificationNumber": "13", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200700", "label_en": "ZAP-70 deficiency", "label_ja": "ZAP-70欠損症", "yomigana": "ざっぷ70けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200700", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100203", "symptoms_en_list": [ "Abnormal lymph node morphology | Abnormal total B cell count | Absence of CD8+ T cells | Autoimmune hemolytic anemia | Autoimmune thrombocytopenia | Autosomal recessive inheritance | Chronic diarrhea | Colitis | Decreased total CD8+ T cell proportion | Eczematoid dermatitis | Failure to thrive | Hepatomegaly | Hepatosplenomegaly | Increased total eosinophil count | Increased total lymphocyte count | Infantile onset | Lymphadenitis | Lymphadenopathy | Lymphoma | Lymphoproliferative disorder | Nephrotic syndrome | Panhypogammaglobulinemia | Pneumonia | Recurrent Candida infection | Recurrent bacterial infections | Recurrent bacterial skin infections | Recurrent infection of the gastrointestinal tract | Recurrent mucocutaneous candidiasis | Recurrent mycobacterial infections | Recurrent opportunistic infections | Recurrent oral thrush | Recurrent respiratory infections | Recurrent upper and lower respiratory tract infections | Recurrent viral infections | Skin rash | Splenomegaly | Stomatitis | Stroke | obsolete Impaired lymphocyte transformation with phytohemagglutinin" ], "symptoms_ja_list": [ "B 細胞数の異常 | CD8+ T 細胞数の減少 | CD8+ T 細胞欠損 | PHによるリンパ球変態障害 | ネフローゼ症候群 | リンパ増殖性疾患 | リンパ球増多症 | リンパ節の異常 | リンパ節炎 | リンパ節腫大 | リンパ腫 | 卒中 | 反復性ウイルス感染症 | 反復性カンジダ感染症 | 反復性マイコバクテリウム感染症 | 反復性上気道および下気道感染症 | 反復性呼吸器感染症 | 反復性日和見感染症 | 反復性細菌性皮膚感染症 | 反復性細菌感染症 | 口内炎 | 好酸球増多症 | 常染色体潜性遺伝 | 慢性下痢 | 慢性口腔カンジダ症 | 慢性粘膜皮膚カンジダ症 | 成長障害 (成長不全) | 汎低ガンマグロブリン血症 | 湿疹 | 皮膚発疹 | 結腸炎 | 肝脾腫 | 肝腫 | 肺炎 | 胃腸管の反復感染症 | 脾腫 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少" ] }, { "id": "NANDO:2201063", "label_en": "Atypical coarctation type Takayasu arteritis", "label_ja": "異型大動脈縮窄型高安動脈炎", "yomigana": "いけいだいどうみゃくきょうさくがたたかやすどうみゃくえん", "url": "http://nanbyodata.jp/ontology/NANDO_2201063", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100153", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200791", "label_en": "Factor H deficiency", "label_ja": "Factor H 欠損症", "yomigana": "ふぁくたーえいちけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200791", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal dominant inheritance | Autosomal recessive inheritance | Chronic kidney disease | Decreased circulating complement factor H concentration | Depletion of components of the alternative complement pathway | Glomerular subendothelial electron-dense deposits | Hematuria | Juvenile onset | Recurrent bacterial infections | Thickened glomerular basement membrane" ], "symptoms_ja_list": [ "デンスデポジット糸球体腎炎", "密沈積症 | 副補体経路の補体枯渇 | 反復性細菌感染症 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 慢性腎疾患 | 糸球体基底膜肥厚 | 血尿 | 血清補体 factor H減少" ] }, { "id": "NANDO:1200832", "label_en": "Glycogen storage diseases type X", "label_ja": "筋型糖原病X型", "yomigana": "きんがたとうげんびょう10がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200832", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Autosomal recessive inheritance | Elevated circulating creatine kinase activity | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced myalgia | Myoglobinuria | Myopathy | Renal insufficiency | Rhabdomyolysis" ], "symptoms_ja_list": [ "ミオグロビン尿 | ミオパチー | 常染色体潜性遺伝 | 横紋筋融解 | 腎不全 | 血清 creatine phosphokinase上昇 | 運動不耐症 | 運動誘発性筋けいれん | 運動誘発性筋痛" ] }, { "id": "NANDO:1200013", "label_en": "Neuroacanthocytosis", "label_ja": "神経有棘赤血球症", "yomigana": "しんけいゆうきょくせっけっきゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200013", "notificationNumber": "9", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201074", "label_en": "Other maturity-onset diabetes of the young", "label_ja": "若年発症成人型糖尿病（その他）", "yomigana": "じゃくねんはっしょうせいじんがたとうにょうびょう（そのた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201074", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200725", "label_en": "X-linked lymphoproliferative syndrome", "label_ja": "X連鎖リンパ増殖症候群", "yomigana": "えっくすれんさりんぱぞうしょくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200725", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200475", "label_en": "Acquired aHUS", "label_ja": "後天性非典型溶血性尿毒症症候群", "yomigana": "こうてんせいひてんけいようけつせいにょうどくしょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200475", "notificationNumber": "109", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200536", "label_en": "Phosphoenolpyruvate carboxykinase deficiency", "label_ja": "ホスホエノールピルビン酸カルボキシキナーゼ欠損症", "yomigana": "ほすほえのーるぴるびんさんかるぼきしきなーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200536", "notificationNumber": "71", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Acute encephalopathy | Decreased liver function | Drowsiness | Hepatic steatosis | Hyperammonemia | Hyperglutaminemia | Hypoglycemic coma | Hypoglycemic seizures | Hypotonia | Increased circulating lactate concentration | Increased urine alpha-ketoglutarate concentration | Lactic acidosis | Lacticaciduria | Lethargy | Microcephaly | Neonatal hypoglycemia | Neurodevelopmental delay | Recurrent hypoglycemia | Vomiting" ], "symptoms_ja_list": [ "乳酸尿 | 乳酸性アシドーシス | 低血糖性昏睡 | 低血糖性発作 | 反復性低血糖 | 嘔吐 | 小頭 | 尿中αケトグルタル酸濃度増加 | 急性脳症 | 新生児低血糖 | 無気力 | 眠気 | 神経発生遅延 | 筋緊張低下 | 肝機能低下 | 脂肪肝 | 血清乳酸増加 | 高アンモニア血症 | 高グルタミン血症" ] }, { "id": "NANDO:2200051", "label_en": "Chondroblastoma", "label_ja": "軟骨芽細胞腫", "yomigana": "なんこつがさいぼうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200051", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200652", "label_en": "Fanconi anemia", "label_ja": "ファンコニ貧血", "yomigana": "ふぁんこにひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200652", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100191", "symptoms_en_list": [ "Abnormal aortic morphology | Abnormal aortic valve morphology | Abnormal cardiac septum morphology | Abnormal carotid artery morphology | Abnormal eyelid morphology | Abnormal femur morphology | Abnormal foot morphology | Abnormal localization of kidney | Abnormal nervous system morphology | Abnormal pinna morphology | Abnormal preputium morphology | Abnormal renal morphology | Abnormal skin pigmentation | Abnormal testis morphology | Abnormal thumb morphology | Abnormality of blood and blood-forming tissues | Abnormality of chromosome stability | Abnormality of the eye | Abnormality of the hypothalamus-pituitary axis | Abnormality of the liver | Abnormality of the upper limb | Abnormality of the urinary system | Abnormality of the uterus | Abnormality of vision | Absent testis | Aganglionic megacolon | Almond-shaped palpebral fissure | Anal atresia | Anemia | Aplasia/Hypoplasia of fingers | Aplasia/Hypoplasia of the iris | Aplasia/Hypoplasia of the radius | Aplasia/Hypoplasia of the uvula | Arteriovenous malformation | Astigmatism | Atrial septal defect | Azoospermia | Bicornuate uterus | Cataract | Choanal atresia | Cleft palate | Clinodactyly of the 5th finger | Clubbing of toes | Cranial nerve paralysis | Cryptorchidism | Decreased fertility in males | Decreased total leukocyte count | Dolichocephaly | Duodenal stenosis | Epicanthus | Facial asymmetry | Finger syndactyly | Frontal bossing | Global developmental delay | Growth delay | Hearing abnormality | Hearing impairment | High palate | Hip dislocation | Hydrocephalus | Hydroureter | Hyperreflexia | Hypertelorism | Hypertrophic cardiomyopathy | Hypogonadism | Hypopigmented skin patches | Hypoplasia of the ulna | Hypospadias | Intellectual disability | Intrauterine growth retardation | Irregular hyperpigmentation | Meckel diverticulum | Microcephaly | Micrognathia | Microphthalmia | Multiple cafe-au-lait spots | Myelodysplasia | Neoplasm | Nystagmus | Oligohydramnios | Patent ductus arteriosus | Pes planus | Proptosis | Ptosis | Pyridoxine-responsive sideroblastic anemia | Recurrent urinary tract infections | Reduced bone mineral density | Renal hypoplasia/aplasia | Renal insufficiency | Scoliosis | Short palpebral fissure | Short stature | Sloping forehead | Spina bifida | Strabismus | Tetralogy of Fallot | Thrombocytopenia | Toe syndactyly | Tracheoesophageal fistula | Triphalangeal thumb | Umbilical hernia | Upslanted palpebral fissure | Ventriculomegaly | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "Fallot 四徴症 | Meckel 憩室 | ばち趾 | アーモンド型眼瞼裂 | ピリドキシン反応性鉄芽球性貧血 | 三指節母指 | 上肢の異常 | 不規則な高色素 | 両眼隔離 | 乱視 | 二分脊椎 | 低色素性皮膚斑 | 低身長 | 体重喪失 | 停留精巣 | 側弯 | 全般性発達遅滞 | 内眼角贅皮 | 前頭突出", "額突出 | 動脈管開存症 | 動静脈奇形 | 包皮異常 | 十二指腸狭窄 | 双角子宮 | 反射亢進 | 反復性尿路感染症 | 口蓋垂の無形成/低形成 | 口蓋裂 | 合指症 | 合趾症 | 多発性カフェオーレ斑 | 大動脈の異常 | 大動脈弁の異常 | 大腿骨の異常 | 子宮内成長遅滞 | 子宮異常 | 小眼球 | 小頭 | 小顎 | 尺骨低形成 | 尿路異常 | 尿道下裂 | 後鼻孔閉鎖 | 心中隔 | 心房中隔欠損 | 性腺機能低下症 | 成長遅滞 | 扁平足 | 指の無形成/低形成 | 斜視 | 新生物 | 染色体安定性の異常 | 橈骨無形成/低形成 | 母指の異常 | 気管食道瘻 | 水尿管症 | 水頭症 | 無神経節性巨大結腸 | 無精子症 | 男性の妊孕性減少 | 白内障 | 白血球減少症 | 皮膚色素の異常 | 眼の異常 | 眼振 | 眼球突出 | 眼瞼の異常 | 眼瞼下垂 | 眼瞼裂斜上 | 知的障害 | 短い眼瞼裂 | 神経系形態の異常 | 第5指弯指 | 精巣無形成 | 精巣異常 | 羊水過少 | 耳介の異常 | 聴覚異常 | 肝の異常 | 股関節脱臼 | 肥大型心筋症 | 脳室拡大 | 脳神経麻痺 | 腎不全 | 腎位置異常 | 腎低形成/無形成 | 腎形態異常 | 臍ヘルニア | 虹彩無形成/低形成 | 血小板減少 | 血液および血液痙性組織の異常 | 視力障害 | 視床下部-下垂体軸異常 | 視覚の異常 | 貧血 | 足の異常 | 鎖肛 | 長頭 | 難聴 | 頸動脈の異常 | 額傾斜 | 顔面非対称 | 骨ミネラル濃度減少 | 骨髄異形成 | 高口蓋" ] }, { "id": "NANDO:2201369", "label_en": "Sclerosteosis", "label_ja": "硬化性骨症", "yomigana": "こうかせいこつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201369", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "2-3 finger cutaneous syndactyly | Abnormal cortical bone morphology | Abnormality of the nose | Craniofacial hyperostosis | Curved distal phalanges of the hand | Diaphyseal undertubulation | Facial palsy | Finger syndactyly | Fingernail dysplasia | Increased bone mineral density | Optic atrophy | Ptosis | Sensorineural hearing impairment | Tall stature" ], "symptoms_ja_list": [ "合指症 | 感音難聴 | 指爪異形成 | 湾曲した指の末節骨 | 眼瞼下垂 | 第2-3合指症 | 視神経萎縮 | 頭蓋顔面過骨症 | 顔面麻痺 | 骨ミネラル濃度の増加 | 骨幹の肥厚 | 骨皮質形態異常 | 高身長 | 鼻の異常" ] }, { "id": "NANDO:2201054", "label_en": "Medullary thyroid carcinoma", "label_ja": "家族性甲状腺髄様癌", "yomigana": "かぞくせいこうじょうせんずいようがん", "url": "http://nanbyodata.jp/ontology/NANDO_2201054", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100148", "symptoms_en_list": [ "Diarrhea | Dysphagia | Dysphonia | Elevated circulating calcitonin concentration | Hyperhidrosis | Lymphadenopathy | Medullary thyroid carcinoma | Neoplasm of the lung | Neoplasm of the skeletal system | Nodular goiter | Pheochromocytoma | Primary hyperparathyroidism | Weight loss" ], "symptoms_ja_list": [ "カルシトニン上昇 | リンパ節腫大 | 下痢 | 体重喪失 | 原発性副甲状腺機能亢進症 | 嚥下障害 | 多汗 | 甲状腺髄様癌 | 発音障害 | 結節性甲状腺腫 | 肺新生物 | 褐色細胞腫 | 骨格新生物" ] }, { "id": "NANDO:2100297", "label_en": "Kasabach-Merritt syndrome", "label_ja": "カサバッハ・メリット症候群 ", "yomigana": "かさばっは・めりっとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100297", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100294", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100123", "label_en": "Hyperparathyroidism", "label_ja": "副甲状腺機能亢進症", "yomigana": "ふくこうじょうせんきのうこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100123", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201426", "label_en": "Thanatophoric dysplasia", "label_ja": "タナトフォリック骨異形成症", "yomigana": "たなとふぉりっくこついけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201426", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal ilium morphology | Abnormal metaphysis morphology | Abnormal sacroiliac joint morphology | Abnormality of the kidney | Acanthosis nigricans | Atrial septal defect | Brachydactyly | Cloverleaf skull | Depressed nasal bridge | Disproportionate short-limb short stature | Downslanted palpebral fissures | Flat face | Frontal bossing | Gray matter heterotopia | Hearing impairment | Hip dysplasia | Hydrocephalus | Hypotonia | Increased nuchal translucency | Intrauterine growth retardation | Joint hypermobility | Joint stiffness | Kyphosis | Low-set ears | Macrocephaly | Micromelia | Midface retrusion | Narrow chest | Patent ductus arteriosus | Platyspondyly | Polyhydramnios | Profound intellectual disability | Proptosis | Pulmonary hypoplasia | Redundant skin | Respiratory insufficiency | Seizure | Short thorax | Skeletal dysplasia | Ventriculomegaly" ], "symptoms_ja_list": [ "クローバー型頭蓋骨 | 不均衡型短肢低身長 | 仙腸関節の異常 | 前頭突出", "額突出 | 動脈管開存症 | 呼吸不全 | 大頭 | 子宮内成長遅滞 | 小肢症 | 平坦な顔 | 後弯 | 循環器系の形態異常 | 心房中隔欠損 | 扁平脊椎 | 水頭症 | 狭い胸郭 | 発作 | 眼球突出 | 眼瞼裂斜下 | 知的障害", "最重度 | 短い胸郭 | 短指症候群 | 筋緊張低下 | 組織異所発生 | 羊水過多 | 耳介低位 | 股関節異形成 | 肺低形成 | 脳室拡大 | 腎異常 | 腸骨の異常 | 落ちくぼんだ鼻梁 | 過剰な皮膚 | 関節拘縮 | 関節過動 | 難聴 | 項部透過性増加 | 顔面中部後退 | 骨幹端の異常 | 骨格異形成 | 黒色表皮腫" ] }, { "id": "NANDO:2201220", "label_en": "Type 1 Farber disease", "label_ja": "古典型ファーバー病", "yomigana": "こてんがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201220", "notificationNumber": "123", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200758", "label_en": "Myeloperoxidase deficiency", "label_ja": "ミエロペルオキシダーゼ欠損症", "yomigana": "みえろぺるおきしだーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200758", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Abnormality of blood and blood-forming tissues | Abnormality of metabolism/homeostasis | Abnormality of the immune system | Autosomal recessive inheritance" ], "symptoms_ja_list": [ "代謝/ホメオスターシスの異常 | 免疫系の異常 | 常染色体潜性遺伝 | 血液および血液痙性組織の異常" ] }, { "id": "NANDO:2201193", "label_en": "Galactosialidosis, early infantile form", "label_ja": "新生児及び早期乳児型ガラクトシアリドーシス", "yomigana": "しんせいじおよびそうきにゅうじがたがらくとしありどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201193", "notificationNumber": "113", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal bone marrow cell morphology | Abnormal facial shape | Abnormal macular morphology | Abnormality of metabolism/homeostasis | Abnormality of movement | Abnormality of the skeletal system | Ascites | Ataxia | Autosomal recessive inheritance | Bone-marrow foam cells | Cardiomegaly | Cardiomyopathy | Cataract | Cherry red spot of the macula | Coarse facial features | Corneal opacity | Death in childhood | Delayed speech and language development | Dysmetria | Dysostosis multiplex | Dysphonia | Dyspnea | Epiphyseal stippling | Facial edema | Flexion contracture | Generalized hypotonia | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrops fetalis | Hyperreflexia | Hypotonia | Increased urinary O-linked sialopeptides | Infantile onset | Inguinal hernia | Intellectual disability | Kyphosis | Muscle weakness | Myoclonus | Nephropathy | Nephrotic syndrome | Nystagmus | Osteoporosis | Pectus carinatum | Pedal edema | Pericardial effusion | Progressive visual loss | Proteinuria | Renal insufficiency | Seizure | Sensorineural hearing impairment | Severe intellectual disability | Short stature | Short thorax | Skeletal muscle atrophy | Slurred speech | Splenomegaly | Tremor | Umbilical hernia | Urinary excretion of sialylated oligosaccharides | Vacuolated lymphocytes" ], "symptoms_ja_list": [ "はと胸 | シアル化オリゴ糖の尿中排泄 | ネフローゼ症候群 | ミオクローヌス | 不明瞭言語 | 代謝/ホメオスターシスの異常 | 低身長 | 全般性発達遅滞 | 全身性筋緊張低下 | 反射亢進 | 呼吸困難 | 多発性異骨症 | 尿中 O-linked sialopeptides 増加 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弯 | 心外膜滲出液 | 心拡大 | 心筋症 | 感音難聴 | 振戦 | 浮腫 (下肢) | 測定障害 | 異常な顔の形 | 発作 | 発語および言語発達遅延 | 発音障害 | 白内障 | 眼振 | 知的障害 | 知的障害", "重度 | 短い胸郭 | 空胞化リンパ球 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗な顔貌 | 肝腫 | 胎児水腫 | 脾腫 | 腎不全 | 腎症 | 腹水 | 臍ヘルニア | 蛋白尿 | 角膜混濁 | 進行性視力喪失 | 運動の異常 | 運動失調 | 難聴 | 顔面浮腫 | 骨格の異常 | 骨端点状石灰化 | 骨粗鬆症 | 骨髄泡沫細胞 | 骨髄細胞形態の異常 | 黄斑のチェリーレッド斑 | 黄斑の異常 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200917", "label_en": "Type III biliary atresia", "label_ja": "III型胆道閉鎖症", "yomigana": "3がたたんどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200917", "notificationNumber": "296", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200320", "label_en": "Primary immunodeficiency syndrome", "label_ja": "原発性免疫不全症候群", "yomigana": "げんぱつせいめんえきふぜんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200320", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200021", "label_en": "Anaplastic large cell lymphoma", "label_ja": "未分化大細胞リンパ腫", "yomigana": "みぶんかだいさいぼうりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200021", "notificationNumber": "90", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200460", "label_en": "Congenital isolated hypoganglionosis", "label_ja": "腸管神経節細胞僅少症", "yomigana": "ちょうかんしんけいせつさいぼうきんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200460", "notificationNumber": "101", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Autosomal recessive inheritance | Total intestinal aganglionosis" ], "symptoms_ja_list": [ "全腸無神経節症 | 常染色体潜性遺伝" ] }, { "id": "NANDO:2200357", "label_en": "Congenital adrenal hypoplasia", "label_ja": "先天性副腎低形成症", "yomigana": "せんてんせいふくじんていけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200357", "notificationNumber": "82", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100128", "symptoms_en_list": [ "Absence of pubertal development | Adrenal hypoplasia | Adrenal insufficiency | Adrenocortical cytomegaly | Azoospermia | Childhood onset | Cryptorchidism | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Decreased testicular size | Dehydration | Delayed puberty | Diarrhea | Erectile dysfunction | Failure to thrive | Failure to thrive in infancy | Fatigue | Hyperkalemia | Hyperpigmentation of the skin | Hypogonadotropic hypogonadism | Hyponatremia | Increased circulating ACTH level | Infantile onset | Juvenile onset | Muscular dystrophy | Nausea | Neonatal onset | Oligozoospermia | Precocious puberty | Primary adrenal insufficiency | Renal salt wasting | Seizure | Sparse pubic hair | Vertigo | Vomiting | Weight loss | X-linked recessive inheritance | Young adult onset" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | 下痢 | 乏精子症 | 乳児期の成長障害 (成長不全) | 低アルドステロン症 | 低ゴナドトロピン性性腺機能低下症 | 低ナトリウム血症 | 体重喪失 | 停留精巣 | 副腎不全 | 副腎低形成 | 副腎皮質巨細胞腫 | 勃起異常 | 原発性副腎不全 | 吐気 | 嘔吐 | 循環性ACTH 値増加 | 循環性コルチゾール値減少 | 思春期早発 | 思春期発達欠損 | 思春期遅発 | 成長障害 (成長不全) | 無精子症 | 疎な恥毛 | 疲労 | 発作 | 皮膚高色素 | 眩暈 | 筋ジストロフィー | 精巣サイズ減少 | 脱水 | 腎性塩類喪失 | 高カリウム血症" ] }, { "id": "NANDO:1200236", "label_en": "Junctional epidermolysis bullosa", "label_ja": "接合部型表皮水疱症", "yomigana": "せつごうぶがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200236", "notificationNumber": "36", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200359", "label_en": "Mendelian susceptibility to mycobacterial disease", "label_ja": "メンデル遺伝型マイコバクテリア易感染症", "yomigana": "めんでるいでんがたまいこばくてりあいかんせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200359", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201056", "label_en": "End-plate acetylcholine esterase deficiency", "label_ja": "終板アセチルコリンエステラーゼ欠損症", "yomigana": "しゅうばんあせちるこりんえすてらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201056", "notificationNumber": "12", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal facial shape | Abnormal synaptic transmission at the neuromuscular junction | Abnormality of the knee | Areflexia | Autosomal recessive inheritance | Axial muscle weakness | Bilateral ptosis | Congenital onset | Decreased muscle mass | Decreased size of nerve terminals | Distal muscle weakness | Dysarthria | Dysphagia | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | Easy fatigability | Exertional dyspnea | Facial palsy | Fatigable weakness | Feeding difficulties in infancy | Frequent falls | Generalized hypotonia | Generalized muscle weakness | Global developmental delay | High palate | Hyperlordosis | Hyporeflexia | Hypotonia | Hypoventilation | Impaired mastication | Infantile onset | Intellectual disability | Juvenile onset | Limb muscle weakness | Limited extraocular movements | Limited wrist extension | Mandibular prognathia | Muscle weakness | Myopathy | Neck muscle weakness | Neonatal respiratory distress | Ophthalmoparesis | Poor head control | Poor suck | Prolonged miniature endplate currents | Proximal muscle weakness | Ptosis | Pulmonary arterial hypertension | Recurrent lower respiratory tract infections | Respiratory distress | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Right ventricular hypertrophy | Scapular winging | Scoliosis | Skeletal muscle atrophy | Sleep apnea | Talipes equinovarus | Triangular mouth | Type 1 muscle fiber predominance | Type 2 muscle fiber atrophy | Waddling gait | Weak cry" ], "symptoms_ja_list": [ "1型筋線維有意 | 2型筋線維萎縮 | よたつき歩行 | ミオパチー | 三角形の口 | 下顎突出 | 両側性眼瞼下垂 | 低換気 | 側弯 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性筋虚弱 | 内反尖足 | 前弯 | 反射低下 | 反復性下気道感染症 | 右室肥大 | 吸啜不全 | 呼吸不全 | 呼吸窮迫 | 咀嚼こんな | 嚥下障害 | 四肢筋虚弱 | 外眼球運動制限 | 常染色体潜性遺伝 | 弱い泣き声 | 手関節伸展制限 | 新生児呼吸窮迫 | 易疲労性 | 構音障害 | 無反射 | 異常な顔の形 | 疲労性虚弱 | 眼瞼下垂 | 眼筋不全麻痺 | 睡眠時無呼吸 | 知的障害 | 神経筋接合部の異常 | 神経終末サイズの減少 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 筋虚弱による呼吸不全 | 筋量減少 | 筋電図: 反復性刺激への複合筋活動電位 (CMAP) の反応漸減 | 翼状肩甲骨 | 肺高血圧 | 膝の異常 | 軸性筋虚弱 | 近位筋虚弱 | 運動性呼吸困難 | 遠位筋虚弱 | 遷延性微小終板電位 | 頸定不全 | 頸部筋虚弱 | 頻回の転倒 | 顔面麻痺 | 食餌摂取障害 in infancy | 高口蓋 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2100156", "label_en": "Autoinflammatory disease", "label_ja": "自己炎症性疾患", "yomigana": "じこえんしょうせいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100156", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100151", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200422", "label_en": "Behcet's disease", "label_ja": "ベーチェット病", "yomigana": "べーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200422", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [ "Abdominal pain | Abnormal blistering of the skin | Abnormal myocardium morphology | Abnormal pyramidal sign | Acne | Anorexia | Aortic regurgitation | Arterial thrombosis | Arthralgia | Arthritis | Ataxia | Atypical behavior | Autosomal recessive inheritance | Avascular necrosis | Blindness | Cataract | Cerebral ischemia | Chorioretinitis | Confusion | Cranial nerve paralysis | Developmental regression | Diarrhea | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Endocarditis | Epididymitis | Erythema | Erythema nodosum | Fatigue | Fever | Gait disturbance | Gangrene | Gastrointestinal hemorrhage | Genital ulcers | Glomerulonephritis | Glomerulopathy | Headache | Hemiparesis | Hemoptysis | Hyperreflexia | Immunologic hypersensitivity | Increased inflammatory response | Increased intracranial pressure | Infectious encephalitis | Iridocyclitis | Iritis | Irritability | Keratoconjunctivitis sicca | Lymphadenopathy | Malabsorption | Memory impairment | Meningitis | Migraine | Mitral regurgitation | Myalgia | Myocardial infarction | Myocarditis | Myositis | Nausea and vomiting | Nongranulomatous uveitis | Optic neuritis | Oral ulcer | Orchitis | Pancreatitis | Panuveitis | Papule | Paresthesia | Patchy alopecia | Pericarditis | Photophobia | Pleural effusion | Pleuritis | Pulmonary embolism | Pulmonary infiltrates | Pustule | Recurrent aphthous stomatitis | Recurrent fever | Renal insufficiency | Retinopathy | Retrobulbar optic neuritis | Seizure | Splenomegaly | Subcutaneous nodule | Superficial thrombophlebitis | Vasculitis | Venous thrombosis | Vertigo | Weight loss" ], "symptoms_ja_list": [ "?瘡 | CRP 上昇 | リンパ節腫大 | 下痢 | 丘疹 | 乾燥性 | 体重喪失 | 偏頭痛 | 僧帽弁逆流 | 免疫学的過敏性 | 動脈血栓症 | 反射亢進 | 反復性アフタ性口内炎 | 口腔潰瘍 | 吐気と 嘔吐 | 吸収障害 | 喀血 | 壊疽 | 大動脈逆流 | 大脳虚血 | 常染色体潜性遺伝 | 心内膜炎 | 心外膜炎 | 心筋の異常 | 心筋梗塞 | 心筋炎 | 性器潰瘍 | 感覚異常 | 斑状禿頭 | 歩行障害 | 汎ブドウ膜炎 | 炎症反応増加 | 無菌性壊死 | 片側不全麻痺 | 異常な皮膚水泡 | 疲労 | 発作 | 発熱 | 発熱エピソード | 発達退行 | 白内障 | 皮下結節 | 盲 | 眩暈 | 眼球後部視神経炎 | 筋炎 | 筋痛 | 精巣上体炎 | 精巣炎 | 糸球体症 | 糸球体腎炎 | 紅斑 | 結節性紅斑 | 網膜症 | 羞明 | 肺塞栓症 | 肺浸潤 | 胃腸出血 | 胸膜滲出液 | 胸膜炎 | 脈絡膜網膜炎 | 脳炎 | 脳神経麻痺 | 脾腫 | 腎不全 | 腹痛 | 膵炎 | 膿疱 | 虹彩毛様体炎 | 虹彩炎 | 血管炎 | 行動異常 | 表在性血栓性静脈炎 | 被刺激性 | 視神経炎 | 記憶障害 | 赤沈値上昇 | 運動失調 | 錐体路運動機能の異常 | 錯乱 | 関節炎 | 関節痛 | 静脈血栓症 | 非肉芽腫性ブドウ膜炎 | 頭痛 | 頭蓋内圧の増加 | 食思不振 | 髄膜炎" ] }, { "id": "NANDO:1200925", "label_en": "Autoimmune pancreatitis", "label_ja": "自己免疫性膵炎", "yomigana": "じこめんえきせいすいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200925", "notificationNumber": "300", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200514", "label_en": "Short-chain acyl-CoA dehydrogenase deficiency", "label_ja": "短鎖アシルCoA脱水素酵素欠損症", "yomigana": "たんさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200514", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal facial shape | Abnormal pyramidal sign | Ataxia | Atypical behavior | Autosomal recessive inheritance | Cardiomyopathy | Childhood onset | Delayed speech and language development | Dystonia | Episodic metabolic acidosis | Ethylmalonic aciduria | External ophthalmoplegia | Failure to thrive | Feeding difficulties | Flexion contracture | Floppy infant | Global developmental delay | Hepatic steatosis | Hypertonia | Hypoglycemic encephalopathy | Hypotonia | Infantile onset | Intrauterine growth retardation | Ketotic hypoglycemia | Lethargy | Metabolic acidosis | Microcephaly | Myopathy | Neonatal onset | Neurodevelopmental delay | Optic atrophy | Psychosis | Respiratory distress | Scoliosis | Seizure | Sutural cataract" ], "symptoms_ja_list": [ "エチルマロン酸尿 | ケトン性低血糖 | ジストニア | ミオパチー | 乳児筋性筋緊張低下 | 代謝性アシドーシス | 代謝性アシドーシスエピソード | 低血糖性脳症 | 側弯 | 全般性発達遅滞 | 呼吸窮迫 | 外眼筋麻痺 | 大脳白質の異常 | 子宮内成長遅滞 | 小頭 | 屈曲拘縮 | 常染色体潜性遺伝 | 心筋症 | 成長障害 (成長不全) | 無気力 | 異常な顔の形 | 発作 | 発語および言語発達遅延 | 神経発生遅延 | 筋緊張亢進 | 筋緊張低下 | 精神病 | 縫合白内障 | 脂肪肝 | 行動異常 | 視神経萎縮 | 運動失調 | 錐体路運動機能の異常 | 食餌摂取障害" ] }, { "id": "NANDO:2100269", "label_en": "hepatic circulatory abnormalities", "label_ja": "肝血行異常症", "yomigana": "かんけっこういじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100269", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201484", "label_en": "Arteriosclerotic contracted kidney", "label_ja": "動脈硬化性萎縮腎", "yomigana": "どうみゃくこうかせいいしゅくじん", "url": "http://nanbyodata.jp/ontology/NANDO_2201484", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100026", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200870", "label_en": "Ankylosing spondylitis", "label_ja": "強直性脊椎炎", "yomigana": "きょうちょくせいせきついえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200870", "notificationNumber": "271", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200395", "label_en": "Resistance to thyroid hormone", "label_ja": "甲状腺ホルモン不応症", "yomigana": "こうじょうせんほるもんふおうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200395", "notificationNumber": "80", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Attention deficit hyperactivity disorder | Autosomal recessive inheritance | Compensated hypothyroidism | Diabetes mellitus | Elevated circulating thyroid-stimulating hormone concentration | Epiphyseal stippling | Fatigue | Goiter | Hearing impairment | Impaired sensitivity to thyroid hormone | Increased body weight | Juvenile onset | Proptosis | Small for gestational age | Type II diabetes mellitus" ], "symptoms_ja_list": [ "II 型糖尿病 | 代償性甲状腺機能低下症 | 体重増加 | 在胎月齢より小さい児 | 常染色体潜性遺伝 | 注意力欠陥多動性疾患 | 甲状腺ホルモン受容体障害 | 甲状腺刺激ホルモン過剰症 | 甲状腺腫 | 疲労 | 眼球突出 | 糖尿病 | 難聴 | 骨端点状石灰化" ] }, { "id": "NANDO:2201313", "label_en": "Crouzon disease (coronal synostosis)", "label_ja": "クルーゾン病（冠状縫合）", "yomigana": "くるーぞんびょう（かんじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201313", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100109", "label_en": "Endocrine disease", "label_ja": "内分泌疾患", "yomigana": "ないぶんぴつしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100109", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200042", "label_en": "Retinoblastoma", "label_ja": "網膜芽細胞腫", "yomigana": "もうまくがさいぼうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200042", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abnormal eye morphology | Abnormal retinal pigmentation | Cellulitis | Cleft palate | Ewing sarcoma | Glaucoma | Glioma | Heterochromia iridis | Hyphema | Leiomyosarcoma | Leukemia | Leukocoria | Lymphoma | Melanoma | Osteosarcoma | Proptosis | Reduced visual acuity | Retinal calcification | Retinoblastoma | Rhabdomyosarcoma | Strabismus | Uveitis | Vitreous hemorrhage" ], "symptoms_ja_list": [ "Ewing 肉腫 | ブドウ膜炎 | リンパ腫 | 中心視力減少 | 前房出血 | 口蓋裂 | 斜視 | 横紋筋肉腫 | 白色瞳孔 | 白血病 | 眼形態の異常 | 眼球突出 | 硝子体出血 | 網膜石灰化 | 網膜色素異常 | 網膜芽細胞腫 | 緑内障 | 膠腫 | 虹彩異色症 | 蜂巣織炎 | 骨肉腫 | 黒色腫" ] }, { "id": "NANDO:1200486", "label_en": "Muscular dystrophy", "label_ja": "筋ジストロフィー", "yomigana": "きんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200486", "notificationNumber": "113", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201082", "label_en": "Antithrombin deficiency", "label_ja": "先天性アンチトロンビン欠乏症", "yomigana": "せんてんせいあんちとろんびんけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201082", "notificationNumber": "327", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200897", "label_en": "Autoimmune hemorrhaphilia XIII/13", "label_ja": "自己免疫性後天性凝固第 XIII/13 因子欠乏症", "yomigana": "じこめんえきせいこうてんせいぎょうこだい13/13いんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200897", "notificationNumber": "288", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200993", "label_en": "Netherton syndrome", "label_ja": "ネザートン症候群", "yomigana": "ねざーとんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200993", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [ "Abnormal hair morphology | Abnormal intestine morphology | Abnormal neutrophil physiology | Absent eyebrow | Acanthosis nigricans | Allergic rhinitis | Allergy | Alopecia | Aminoaciduria | Anaphylactic shock | Anemia | Angioedema | Apnea | Appendicular hypotonia | Asthma | Atopic dermatitis | Autosomal recessive inheritance | Bacterial endocarditis | Blepharitis | Brittle hair | Brittle scalp hair | Caesarean section | Cellulitis | Chronic constipation | Chronic diarrhea | Chronic rhinitis | Coarse hair | Congenital exfoliative erythroderma | Congenital ichthyosiform erythroderma | Congenital nonbullous ichthyosiform erythroderma | Congenital onset | Conjunctivitis | Cow milk allergy | Decreased circulating IgG concentration | Decreased circulating complement C3 concentration | Decreased circulating immunoglobulin concentration | Dehydration | Dermatographic urticaria | Diarrhea | Dry hair | Dry skin | Dyspnea | Eclabion | Ectopic kidney | Ectropion | Eczematoid dermatitis | Emphysema | Erythema | Erythroderma | Facial edema | Failure to thrive | Feeding difficulties | Fine hair | Flexural lichenification | Global developmental delay | Growth delay | Hearing impairment | Hepatitis | Humoral immunodeficiency | Hydrocephalus | Hydronephrosis | Hyperkeratosis | Hypernatremia | Hypernatremic dehydration | Hypotonia | Ichthyosis | Immunologic hypersensitivity | Increased circulating IgE concentration | Increased total eosinophil count | Infantile onset | Intellectual disability | Interstitial pneumonitis | Intestinal atresia | Intussusception | Irregular hyperpigmentation | Irritability | Jaundice | Juvenile onset | Lichenification | Malabsorption | Malnutrition | Meningitis | Neonatal onset | Neonatal respiratory distress | Nevus | Papule | Parakeratosis | Pili torti | Pneumonia | Postnatal-onset ichthyosiform erythroderma | Premature birth | Pruritus | Psoriasiform dermatitis | Pustule | Recurrent fever | Recurrent infection of the gastrointestinal tract | Recurrent infections | Recurrent lower respiratory tract infections | Recurrent otitis media | Recurrent pneumonia | Recurrent respiratory infections | Recurrent sinusitis | Recurrent skin infections | Recurrent upper respiratory tract infections | Rhinitis | Seasonal allergy | Seborrheic dermatitis | Seizure | Sensorineural hearing impairment | Sepsis | Short stature | Skin plaque | Skin rash | Sparse eyelashes | Sparse hair | Sparse scalp hair | Trichorrhexis nodosa | Urticaria | Villous atrophy" ], "symptoms_ja_list": [ "IgE 値増加 | IgG欠乏症 | アトピー性皮膚炎 | アナフィラキシーショック | アミノ酸尿 | アレルギー | アレルギー性鼻炎 | 下痢 | 不全角化症 | 不規則な高色素 | 丘疹 | 乾いた毛髪 | 乾いた皮膚 | 乾癬 | 低ガンマグロブリン血症 | 低身長 | 体肢筋筋緊張低下 | 先天性剥奪性紅皮症 | 先天性非水泡性魚鱗癬型紅皮症 | 先天性魚鱗癬型紅皮症 | 免疫学的過敏性 | 全般性発達遅滞 | 反復性上気道感染症 | 反復性下気道感染症 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性呼吸器感染症 | 反復性感染症 | 反復性皮膚感染症 | 反復性肺炎 | 口唇外反 | 吸収障害 | 呼吸困難 | 喘息 | 外反(眼瞼) | 好中球生理の異常 | 好酸球増多症 | 季節性アレルギー | 屈曲部苔癬化 | 帝王切開 | 常染色体潜性遺伝 | 感音難聴 | 慢性下痢 | 慢性便秘 | 慢性鼻炎 | 成長遅滞 | 成長障害 (成長不全) | 捻転毛 | 掻痒 | 描画症性蕁麻疹 | 敗血症 | 新生児呼吸窮迫 | 早産 | 栄養失調 | 母斑 | 毛髪の異常 | 水腎症 | 水頭症 | 湿疹 | 無呼吸 | 牛乳アレルギー | 生後発症性魚鱗癬型紅皮症 | 異所性腎 | 疎な毛髪 | 疎な睫毛 | 疎な頭髪 | 発作 | 発熱エピソード | 皮膚局面 | 皮膚発疹 | 眉毛欠損 | 眼瞼炎 | 知的障害 | 禿頭 | 筋緊張低下 | 粗い毛髪 | 紅斑 | 紅皮症 | 細い毛髪 | 細菌性心内膜炎 | 結節性裂毛症 | 結膜炎 | 絨毛萎縮 | 肝炎 | 肺気腫 | 肺炎 | 胃腸管の反復感染症 | 脂漏性皮膚炎 | 脆い毛髪 | 脆い頭髪 | 脱水 | 腸の異常 | 腸重積 | 腸閉鎖 | 膿疱 | 苔癬化 | 蕁麻疹 | 蜂巣織炎 | 血清補体 C3減少 | 血管性浮腫 | 被刺激性 | 貧血 | 過角化症 | 部分的駅制免疫不全 | 間質性肺臓炎 | 難聴 | 顔面浮腫 | 食餌摂取障害 | 髄膜炎 | 高ナトリウム血症 | 高ナトリウム血症性脱水 | 魚鱗癬 | 黄疸 | 黒色表皮腫 | 鼻炎" ] }, { "id": "NANDO:2200028", "label_en": "Peripheral T-cell lymphoma, not otherwise specified", "label_ja": "末梢性T細胞リンパ腫-非特定型", "yomigana": "まっしょうせいてぃーさいぼうりんぱしゅ-ひとくていがた", "url": "http://nanbyodata.jp/ontology/NANDO_2200028", "notificationNumber": "91", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201290", "label_en": "Hypomyelination with atrophy of the basal ganglia and cerebellum", "label_ja": "基底核および小脳萎縮を伴う髄鞘形成不全症", "yomigana": "きていかくおよびしょうのういしゅくをともなうずいしょうけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201290", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Ataxia | Autosomal dominant inheritance | Axial hypotonia | Cerebellar atrophy | Cerebral hypomyelination | Childhood onset | Choreoathetosis | Delayed speech and language development | Developmental regression | Dysarthria | Dystonia | Hypometric saccades | Hypotonia | Infantile onset | Intellectual disability | Leukodystrophy | Microcephaly | Motor delay | Nystagmus | Oculomotor apraxia | Optic atrophy | Poor speech | Progressive | Rigidity | Seizure | Short stature | Spasticity | Specific learning disability | Sporadic | Tremor | Visual impairment" ], "symptoms_ja_list": [ "ジストニア | ロイコジストロフィー | 低身長 | 体幹の筋緊張低下 | 大脳髄鞘低形成 | 孤発性 | 小脳萎縮 | 小頭 | 常染色体顕性遺伝 | 振戦 | 構音障害 | 測定過少性サッケード (断続性運動) | 特異的学習障害 | 痙性 | 発作 | 発語および言語発達遅延 | 発語不全 | 発達退行 | 眼振 | 眼球運動失行症 | 知的障害 | 硬直 | 筋緊張低下 | 舞踏病アテトーゼ | 視力障害 | 視神経萎縮 | 運動失調 | 運動発達遅滞" ] }, { "id": "NANDO:2200614", "label_en": "Congenital red cell aplasia", "label_ja": "先天性赤芽球癆", "yomigana": "せんてんせいせきがきゅうろう", "url": "http://nanbyodata.jp/ontology/NANDO_2200614", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100177", "symptoms_en_list": [ "Abnormal heart morphology | Abnormality of the genitourinary system | Abnormality of the head | Abnormality of the thenar eminence | Abnormality of the upper limb | Absent thumb | Acute myeloid leukemia | Atrial septal defect | Cleft soft palate | Coarctation of aorta | Decreased total leukocyte count | Decreased total neutrophil count | Depressed nasal bridge | Developmental cataract | Developmental glaucoma | Epicanthus | Erythroid hypoplasia | Growth delay | High palate | Horseshoe kidney | Hypertelorism | Hypospadias | Increased mean corpuscular volume | Lethargy | Low anterior hairline | Low-set ears | Macrocytic dyserythropoietic anemia | Malignant genitourinary tract tumor | Microcephaly | Micrognathia | Microtia | Myelodysplasia | Neurodevelopmental delay | Nonimmune hydrops fetalis | Normochromic anemia | Osteosarcoma | Pallor | Partial duplication of thumb phalanx | Persistence of hemoglobin F | Ptosis | Pure red cell aplasia | Renal agenesis | Reticulocytopenia | Short neck | Short stature | Short thumb | Small for gestational age | Sprengel anomaly | Strabismus | Thrombocytopenia | Thrombocytosis | Triphalangeal thumb | Ventricular septal defect | Webbed neck | Wide nasal bridge" ], "symptoms_ja_list": [ "Sprengel 奇形 | ヘモグロビン F 持続 | 三指節母指 | 上肢の異常 | 両眼隔離 | 低い前部毛髪線 | 低身長 | 先天性白内障 | 先天性緑内障 | 内眼角贅皮 | 在胎月齢より小さい児 | 大動脈縮窄 | 大球性異常造血性貧血 | 好中球減少症 | 小耳 | 小頭 | 小顎 | 尿道下裂 | 巨大赤血球症 | 幅広い鼻梁 | 心室中隔欠損 | 心形態の異常 | 心房中隔欠損 | 急性骨髄性白血病 | 性色素性貧血 | 悪性泌尿生殖器腫瘍 | 成長遅滞 | 斜視 | 母指指骨の部分重複 | 母指欠損 | 母指球の異常 | 泌尿生殖器異常 | 無気力 | 白血球減少症 | 眼瞼下垂 | 短い母指 | 短い頸部 | 神経発生遅延 | 純粋赤血球無形成 | 網状赤血球減少症 | 翼状頚 | 耳介低位 | 腎無発生 | 落ちくぼんだ鼻梁 | 蒼白 | 血小板増多症 | 血小板減少 | 赤芽球系低形成 | 軟口蓋裂 | 非免疫性胎児水腫 | 頭部の異常 | 馬蹄腎 | 骨肉腫 | 骨髄異形成 | 高口蓋" ] }, { "id": "NANDO:2200015", "label_en": "Juvenile myelomonocytic leukemia", "label_ja": "若年性骨髄単球性白血病", "yomigana": "じゃくねんせいこつずいたんきゅうせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200015", "notificationNumber": "76", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [ "Autosomal dominant inheritance | Juvenile myelomonocytic leukemia | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "体細胞モザイク | 常染色体顕性遺伝 | 若年性骨髄単球性白血病" ] }, { "id": "NANDO:2200061", "label_en": "Synovial sarcoma", "label_ja": "滑膜肉腫", "yomigana": "かつまくにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200061", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Synovial sarcoma | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "体細胞モザイク | 滑膜肉腫" ] }, { "id": "NANDO:2200544", "label_en": "Glycogen storage disease type IX", "label_ja": "糖原病IX型", "yomigana": "とうげんびょう9がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200544", "notificationNumber": "69", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200901", "label_en": "Cronkhite-Canada syndrome", "label_ja": "クロンカイト・カナダ症候群", "yomigana": "くろんかいと・かなだしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200901", "notificationNumber": "289", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abdominal pain | Abnormal fingernail morphology | Abnormal skin pigmentation | Abnormality of the vasculature | Alopecia | Anemia | Anorexia | Aplasia/Hypoplasia of the eyebrow | Cachexia | Cataract | Clubbing | Clubbing of fingers | Colon cancer | Diarrhea | Dystrophic fingernails | Dystrophic toenail | Fatigue | Furrowed tongue | Gastrointestinal carcinoma | Generalized hyperpigmentation | Glossitis | Hamartomatous polyposis | Hematochezia | Hepatomegaly | Hyperpigmentation of the skin | Hypocalcemia | Hypogeusia | Hypokalemia | Hypomagnesemia | Hypoplastic toenails | Intestinal polyposis | Lymphedema | Macrocephaly | Malabsorption | Muscle weakness | Nail dysplasia | Nail dystrophy | Neoplasm | Paresthesia | Patchy alopecia | Protein-losing enteropathy | Seizure | Sparse body hair | Splenomegaly | Sporadic | Stomach cancer | Tapered finger | Thromboembolism | Vomiting | Xerostomia" ], "symptoms_ja_list": [ "ばち指 | ばち状化 | タンパク漏出性腸症 | リンパ性浮腫 | 下痢 | 低カリウム血症 | 低カルシウム血症 | 低マグネシウム血症 | 先細りの指 | 全身性高色素 | 口内乾燥症 | 吸収障害 | 味覚減少 | 嘔吐 | 大頭 | 孤発性 | 悪液質 (カヘキシー) | 感覚異常 | 指爪の異常 | 指爪ジストロフィー | 斑状禿頭 | 新生物 | 溝舌 | 爪ジストロフィー | 爪異形成 | 疎な体毛 | 疲労 | 発作 | 白内障 | 皮膚色素の異常 | 皮膚高色素 | 眉毛の無形成/低形成 | 禿頭 | 筋虚弱 | 結腸癌 | 肝腫 | 胃癌 | 胃腸癌 | 脾腫 | 腸ポリープ症 | 腹痛 | 舌炎 | 血便排泄 | 血栓塞栓症 | 血管の異常 | 貧血 | 趾爪ジストロフィー | 趾爪低形成 | 過誤腫ポリープ | 食思不振" ] }, { "id": "NANDO:2200547", "label_en": "Mucopolysaccharidosis type I", "label_ja": "ムコ多糖症I型", "yomigana": "むこたとうしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200547", "notificationNumber": "129", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal epiphysis morphology | Abnormal heart valve morphology | Abnormal hip bone morphology | Abnormal metaphysis morphology | Abnormal nasal morphology | Abnormal tendon morphology | Abnormal vertebral body morphology | Abnormality of the face | Abnormality of the tonsils | Abnormality of the voice | Apnea | Arthralgia | Avascular necrosis | Chronic otitis media | Coarse facial features | Congestive heart failure | Corneal opacity | Cough | Depressed nasal bridge | Developmental regression | Dolichocephaly | Enlarged thorax | Everted lower lip vermilion | Full cheeks | Generalized hirsutism | Gingival overgrowth | Glaucoma | Hearing impairment | Hemiplegia/hemiparesis | Hernia | Hydrocephalus | Hypertrophic cardiomyopathy | Inguinal hernia | Intellectual disability | Joint dislocation | Joint stiffness | Low anterior hairline | Macrocephaly | Malabsorption | Microdontia | Mucopolysacchariduria | Optic atrophy | Paresthesia | Recurrent respiratory infections | Retinopathy | Scoliosis | Sensorineural hearing impairment | Short stature | Sinusitis | Spinal canal stenosis | Splenomegaly | Split hand | Thick lower lip vermilion | Thick nasal alae | Visual impairment | Widely spaced teeth" ], "symptoms_ja_list": [ "うっ血性心不全 | ヘルニア | ムコ多糖症 | 下口唇唇紅部外反 | 低い前部毛髪線 | 低身長 | 側弯 | 全身性多毛 | 分厚い下口唇唇紅部 | 分厚い鼻翼 | 副鼻腔炎 | 反復性呼吸器感染症 | 吸収障害 | 声の異常 | 外層 | 大きな頬 | 大動脈弁の異常 | 大頭 | 寛骨の異常 | 小歯 | 心弁の異常 | 感覚異常 | 感音難聴 | 慢性中耳炎 | 扁桃の異常 | 椎体骨形態異常 | 歯肉過成長 | 歯間隔離 | 水頭症 | 無呼吸 | 無菌性壊死 | 片麻痺/片側不全麻痺 | 異常な鼻形態 | 発達退行 | 知的障害 | 粗な顔貌 | 網膜症 | 緑内障 | 肥大型心筋症 | 胸郭拡大 | 脊椎管狭窄 | 脾腫 | 腱形態異常 | 落ちくぼんだ鼻梁 | 裂手 | 視力障害 | 視神経萎縮 | 角膜混濁 | 長頭 | 関節拘縮 | 関節痛 | 関節脱臼 | 難聴 | 顔の異常 | 骨幹端の異常 | 骨端の異常 | 鼠径ヘルニア" ] }, { "id": "NANDO:1100011", "label_en": "Eye and visual system disease", "label_ja": "視覚系疾患", "yomigana": "しかくけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100011", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100121", "label_en": "Resistance to thyroid hormone", "label_ja": "甲状腺ホルモン不応症", "yomigana": "こうじょうせんほるもんふおうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100121", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201106", "label_en": "Methylmalonic acidemia cblB type", "label_ja": "コバラミン代謝異常 cblB", "yomigana": "こばらみんたいしゃいじょう しーびーえるびー", "url": "http://nanbyodata.jp/ontology/NANDO_2201106", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Anemia | Autosomal recessive inheritance | Childhood onset | Coma | Decreased circulating adenosylcobalamin concentration | Decreased methylmalonyl-CoA mutase activity | Decreased total neutrophil count | Dehydration | Delayed gross motor development | Dilated cardiomyopathy | Failure to thrive | Feeding difficulties in infancy | Global developmental delay | Hepatomegaly | Hyperammonemia | Hyperglycinemia | Hypoglycemia | Hypotonia | Infantile onset | Ketonuria | Ketosis | Lethargy | Metabolic acidosis | Methylmalonic acidemia | Methylmalonic aciduria | Neonatal onset | Pancytopenia | Respiratory distress | Thrombocytopenia | Vomiting" ], "symptoms_ja_list": [ "methylmalonyl-CoA mutase 活性の減少 | アデノシルコバラミンの減少 | ケトン尿 | ケトン症 | メチルマロン酸尿 | メチルマロン酸血症 | 代謝性アシドーシス | 低血糖 | 全般性発達遅滞 | 呼吸窮迫 | 嘔吐 | 好中球減少症 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 拡張型心筋症 | 昏睡 | 汎血球減少症 | 無気力 | 筋緊張低下 | 粗大運動発達遅延 | 肝腫 | 脱水 | 血小板減少 | 貧血 | 食餌摂取障害 in infancy | 高アンモニア血症 | 高グリシン血症" ] }, { "id": "NANDO:2200805", "label_en": "Hyper eosinophilic syndrome", "label_ja": "好酸球増加症", "yomigana": "こうさんきゅうぞうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200805", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100210", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200029", "label_en": "Chronic inflammatory demyelinating polyneuropathy/Multifocal motor neuropathy", "label_ja": "慢性炎症性脱髄性多発神経炎／多巣性運動ニューロパチー", "yomigana": "まんせいえんしょうせいだつずいせいたはつしんけいえん／ たそうせいうんどうにゅーろぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200029", "notificationNumber": "14", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200179", "label_en": "Vesicoureteral reflux", "label_ja": "膀胱尿管逆流", "yomigana": "ぼうこうにょうかんぎゃくりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2200179", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100025", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201326", "label_en": "Generalized myasthenia gravis", "label_ja": "全身型重症筋無力症", "yomigana": "せんしんがたじゅうしょうきんむりょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201326", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100252", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100047", "label_en": "Polymorphic ventricular premature beat", "label_ja": "多源性心室期外収縮", "yomigana": "たげんせいしんしつきがいしゅうしゅく", "url": "http://nanbyodata.jp/ontology/NANDO_2100047", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200050", "label_en": "Chondrosarcoma", "label_ja": "軟骨肉腫", "yomigana": "なんこつにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200050", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Chondrosarcoma | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "体細胞モザイク | 軟骨肉腫" ] }, { "id": "NANDO:1200096", "label_en": "Hurler-Scheie disease", "label_ja": "ハーラー／シェイエ病", "yomigana": "はーらー/しゃいえびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200096", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal heart valve morphology | Abnormal pyramidal sign | Abnormal vertebral morphology | Abnormality of the tonsils | Aortic regurgitation | Autosomal recessive inheritance | Camptodactyly of finger | Cardiomyopathy | Childhood onset | Coarse facial features | Contracture of the distal interphalangeal joint of the fingers | Corneal opacity | Depressed nasal bridge | Dermatan sulfate excretion in urine | Dysostosis multiplex | Generalized hirsutism | Growth delay | Heparan sulfate excretion in urine | Hepatomegaly | Hernia | Hirsutism | Inguinal hernia | Joint stiffness | Kyphosis | Limitation of joint mobility | Micrognathia | Mitral regurgitation | Obstructive sleep apnea | Pulmonary arterial hypertension | Recurrent respiratory infections | Rhinitis | Scoliosis | Sensorineural hearing impairment | Short stature | Skeletal dysplasia | Spinal canal stenosis | Splenomegaly | Thenar muscle atrophy | Thick vermilion border | Thickened skin | Tracheal stenosis | Umbilical hernia" ], "symptoms_ja_list": [ "ヘルニア | 低身長 | 側弯 | 僧帽弁逆流 | 全身性多毛 | 分厚い唇紅部縁 | 分厚い皮膚 | 反復性呼吸器感染症 | 多毛 | 多発性異骨症 | 大動脈逆流 | 小顎 | 尿中硫酸デルマタン排泄 | 尿中硫酸ヘパラン排泄 | 屈指 | 常染色体潜性遺伝 | 後弯 | 心弁の異常 | 心筋症 | 感音難聴 | 成長遅滞 | 扁桃の異常 | 指の遠位指間(DIP)関節拘縮 | 母指球筋萎縮 | 気管狭窄 | 粗な顔貌 | 肝腫 | 肺高血圧 | 脊椎の異常 | 脊椎管狭窄 | 脾腫 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 角膜混濁 | 錐体路運動機能の異常 | 閉塞性睡眠時無呼吸 | 関節拘縮 | 関節運動制限 | 骨格異形成 | 鼠径ヘルニア | 鼻炎" ] }, { "id": "NANDO:2200770", "label_en": "STAT2 deficiency", "label_ja": "STAT2欠損症", "yomigana": "えすてぃーえーてぃー2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200770", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Autosomal recessive inheritance | Childhood onset | Decreased circulating IgA concentration | Decreased circulating IgM concentration | Decreased total lymphocyte count | Encephalopathy | Increased circulating lactate concentration | Infantile onset" ], "symptoms_ja_list": [ "IgA欠乏症 | IgM欠乏症 | リンパ球減少症 | 常染色体潜性遺伝 | 脳症 | 血清乳酸増加" ] }, { "id": "NANDO:2200589", "label_en": "Genetic defects in urate transporters", "label_ja": "尿酸トランスポーター異常症", "yomigana": "にょうさんとらんすぽーたーいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200589", "notificationNumber": "78", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100168", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200101", "label_en": "Atypical teratoid, rhabdoid tumour", "label_ja": "異型奇形腫瘍／ラブドイド腫瘍", "yomigana": "いけいきけいしゅよう／らぶどいどしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200101", "notificationNumber": "49", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Apathy | Ataxia | Cerebral calcification | Cerebral palsy | Cranial nerve paralysis | Hemiplegia/hemiparesis | Hydrocephalus | Irritability | Limitation of joint mobility | Macrocephaly | Malignant neoplasm of the central nervous system | Migraine | Muscle weakness | Nausea and vomiting | Reduced consciousness | Seizure" ], "symptoms_ja_list": [ "中枢神経悪性新生物 | 偏頭痛 | 吐気と 嘔吐 | 大脳石灰化 | 大頭 | 意識減少/混乱 | 水頭症 | 無関心", "感情鈍磨 | 片麻痺/片側不全麻痺 | 発作 | 筋虚弱 | 脳性麻痺 | 脳神経麻痺 | 被刺激性 | 運動失調 | 関節運動制限" ] }, { "id": "NANDO:2201205", "label_en": "Saposin B deficiency", "label_ja": "サポシンB欠損症", "yomigana": "さぽしんびーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201205", "notificationNumber": "112", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal periventricular white matter morphology | Autosomal recessive inheritance | Babinski sign | CNS demyelination | Childhood onset | Decreased nerve conduction velocity | Developmental regression | Dysarthria | Dysphagia | Gait ataxia | Global developmental delay | Hyperreflexia | Hyporeflexia | Hypotonia | Increased CSF protein concentration | Loss of ambulation | Loss of speech | Mental deterioration | Motor deterioration | Muscle weakness | Peripheral demyelination | Peripheral neuropathy | Polyneuropathy | Seizure | Spastic tetraparesis | Urinary incontinence" ], "symptoms_ja_list": [ "Babinski サイン | ポリニューロパチー | 中枢神経脱髄 | 全般性発達遅滞 | 反射亢進 | 反射低下 | 嚥下障害 | 常染色体潜性遺伝 | 末梢神経ニューロパチー | 末梢神経脱髄 | 構音障害 | 歩行失調 | 痙性四肢不全麻痺 | 発作 | 発語喪失 | 発達退行 | 知能悪化 | 神経活動電位の振幅減少 | 筋緊張低下 | 筋虚弱 | 脳室周囲白質の異常 | 進行性歩行不安定 | 運動発達悪化 | 遺尿 | 髄液タンパクの増加" ] }, { "id": "NANDO:2200989", "label_en": "Autosomal recessive epidermolytic ichthyosis", "label_ja": "常染色体劣性表皮融解性魚鱗癬", "yomigana": "じょうせんしょくたいれっせいひょうひゆうかいせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_2200989", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200860", "label_en": "Acquired generalized lipodystrophy", "label_ja": "後天性全身性脂肪萎縮症", "yomigana": "こうてんせいぜんしんせいしぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200860", "notificationNumber": "265", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal cardiovascular system physiology | Abnormal circulating lipid concentration | Abnormality of complement system | Acanthosis nigricans | Accelerated skeletal maturation | Acute pancreatitis | Astrocytoma | Autoimmunity | Calf muscle pseudohypertrophy | Cardiomyopathy | Cirrhosis | Generalized hirsutism | Generalized hyperpigmentation | Generalized lipodystrophy | Hepatic steatosis | Hepatomegaly | Hyperinsulinemia | Hypertension | Hypertriglyceridemia | Insulin resistance | Insulin-resistant diabetes mellitus | Lymphoma | Myopathy | Panniculitis | Polycystic ovaries | Progeroid facial appearance | Proteinuria | Unicameral bone cyst" ], "symptoms_ja_list": [ "インスリン抵抗性 | インスリン抵抗性糖尿病 | プロゲリア様顔貌 | ミオパチー | リンパ腫 | 全身性リポジストロフィー | 全身性多毛 | 全身性高色素 | 単房性骨嚢胞 | 多嚢胞性卵巣 | 心筋症 | 心血管系生理の異常 | 急性膵炎 | 星状細胞腫 | 肝硬変 | 肝腫 | 脂肪織炎 | 脂肪肝 | 脂質代謝の異常 | 腓腹筋仮性肥大 | 自己免疫 | 蛋白尿 | 補体系の異常 | 骨成熟促進 | 高インスリン血症 | 高トリグリセリド血症 | 高血圧 | 黒色表皮腫" ] }, { "id": "NANDO:2200037", "label_en": "Juvenile xanthogranuloma", "label_ja": "若年性黄色肉芽腫", "yomigana": "じゃくねんせいおうしょくにくげしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200037", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100005", "symptoms_en_list": [ "Abnormal oral mucosa morphology | Abnormality of the respiratory system | Asymmetry of iris pigmentation | Blepharitis | Glaucoma | Hyphema | Iritis | Multiple cafe-au-lait spots | Myeloproliferative disorder | Proptosis | Uveitis | Visual loss" ], "symptoms_ja_list": [ "ブドウ膜炎 | 前房出血 | 口腔粘膜異常 | 呼吸器の異常 | 多発性カフェオーレ斑 | 眼球突出 | 眼瞼炎 | 緑内障 | 虹彩炎 | 虹彩色素非対称 | 視力喪失 | 骨髄増殖性疾患" ] }, { "id": "NANDO:1200867", "label_en": "Nakajo-Nishimura syndrome", "label_ja": "中條・西村症候群", "yomigana": "なかじょう・にしむらしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200867", "notificationNumber": "268", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200203", "label_en": "Subacute sclerosing panencephalitis with prolonged Jabbour's clinical stage I", "label_ja": "亜急性硬化性全脳炎（Jabbour分類の I 期が遷延する例）", "yomigana": "あきゅうせいこうかせいぜんのうえん（じゃばーぶんるいの1きがせんえんするれい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200203", "notificationNumber": "24", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200818", "label_en": "Schizencephaly", "label_ja": "裂脳症", "yomigana": "れつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200818", "notificationNumber": "93", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [ "Agenesis of corpus callosum | Aplasia/Hypoplasia of the corpus callosum | Cerebral cortical atrophy | EEG abnormality | Global developmental delay | Hemiparesis | Intellectual disability | Porencephalic cyst | Schizencephaly | Seizure | Spastic tetraplegia | Spasticity | Strabismus" ], "symptoms_ja_list": [ "全般性発達遅滞 | 大脳皮質萎縮 | 孔脳症 | 斜視 | 片側不全麻痺 | 痙性 | 痙性四肢麻痺 | 発作 | 知的障害 | 脳梁無形成/低形成 | 脳梁無発生 of | 脳波異常 | 裂脳症" ] }, { "id": "NANDO:2201442", "label_en": "Generalized lipodystrophy", "label_ja": "全身性脂肪萎縮症", "yomigana": "ぜんしんせいしぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201442", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100147", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200911", "label_en": "Amylase deficiency", "label_ja": "アミラーゼ欠損症", "yomigana": "あみらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200911", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100254", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormal circulating enzyme concentration or activity | Chronic diarrhea | Malabsorption | Nausea | Vomiting" ], "symptoms_ja_list": [ "吐気 | 吸収障害 | 嘔吐 | 慢性下痢 | 腹痛 | 腹部膨満 | 高度/補酵素活性異常" ] }, { "id": "NANDO:1200348", "label_en": "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells", "label_ja": "特異抗体産生不全症", "yomigana": "とくいこうたいさんせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200348", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100111", "label_en": "Pituitary gigantism", "label_ja": "下垂体性巨人症", "yomigana": "かすいたいせいきょじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100111", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200733", "label_en": "Hermansky-Pudlak syndrome type 2", "label_ja": "Hermansky-Pudlak症候群2型", "yomigana": "へるまんすきーぱどらっくしょうこうぐん2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200733", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Aberrant melanosome maturation | Abnormal natural killer cell physiology | Acetabular dysplasia | Albinism | Autosomal recessive inheritance | Carious teeth | Coarse facial features | Congenital onset | Decreased total neutrophil count | Epicanthus | Fair hair | Gastroesophageal reflux | Generalized hypopigmentation | Hepatomegaly | Hepatosplenomegaly | Horizontal nystagmus | Impaired ADP-induced platelet aggregation | Long philtrum | Low-set ears | Microcephaly | Mild global developmental delay | Mild intellectual disability | Motor delay | Nystagmus | Ocular albinism | Periodontitis | Photophobia | Posteriorly rotated ears | Prolonged bleeding time | Pulmonary fibrosis | Recurrent abscess formation | Recurrent bacterial infections | Recurrent oral thrush | Recurrent otitis media | Recurrent pneumonia | Reduced visual acuity | Smooth philtrum | Splenomegaly | Strabismus | Thin upper lip vermilion | Thrombocytopenia | Upslanted palpebral fissure | Wide nasal bridge" ], "symptoms_ja_list": [ "ADP-誘発性血小板凝集障害 | ナチュラルキラー細胞生理の異常 | メラノソーム成熟異常 | 中心視力減少 | 全身性低色素 | 内眼角贅皮 | 反復性中耳炎 | 反復性細菌感染症 | 反復性肺炎 | 反復性膿瘍形成 | 好中球減少症 | 寛骨臼異形成 | 小頭 | 常染色体潜性遺伝 | 幅広い鼻梁 | 平坦な人中 | 慢性口腔カンジダ症 | 斜視 | 歯周炎 | 水平性眼振 | 白皮症 | 眼振 | 眼白子症 | 眼瞼裂斜上 | 知的障害", "軽度 | 粗な顔貌 | 羞明 | 耳介低位 | 耳介後方回転 | 肝脾腫 | 肝腫 | 肺線維症 | 胃食道逆流 | 脾腫 | 薄い上口唇唇紅部 | 血小板減少 | 軽度の全般性発達遅滞 | 運動発達遅滞 | 遷出血時間遷延 | 金髪 | 長い人中 | 齲歯" ] }, { "id": "NANDO:2201255", "label_en": "Homozygous familial hypercholesterolemia", "label_ja": "家族性高コレステロール血症ホモ接合体", "yomigana": "かぞくせいこうこれすてろーるけっしょうほもせつごうたい", "url": "http://nanbyodata.jp/ontology/NANDO_2201255", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100171", "symptoms_en_list": [ "Abnormal eye physiology | Abnormal internal carotid artery morphology | Abnormal left ventricular function | Abnormal nervous system physiology | Abnormal tendon morphology | Angina pectoris | Aortic atherosclerotic lesion | Arthralgia | Calcification of the aorta | Cerebral artery atherosclerosis | Coronary artery atherosclerosis | Dyspnea | Elevated circulating LDL-C concentration | Hepatic steatosis | Hypercholesterolemia | Hyperlipidemia | Hypertension | Mitral regurgitation | Myocardial infarction | Myocardial steatosis | Optic neuropathy | Peripheral arterial stenosis | Precocious atherosclerosis | Premature arteriosclerosis | Premature coronary artery atherosclerosis | Renal artery stenosis | Renal steatosis | Sudden cardiac death | Supravalvular aortic stenosis | Tendon xanthomatosis | Xanthomatosis" ], "symptoms_ja_list": [ "僧帽弁逆流 | 冠動脈疾患 | 呼吸困難 | 大動脈動脈硬化症 | 大動脈石灰化 | 大脳動脈動脈硬化症 | 左室機能障害 | 弁上性大動脈狭窄 | 心筋梗塞 | 心筋脂肪症 | 早発性冠動脈疾患 | 早発性動脈硬化症 | 末梢動脈疾患 | 狭心症 | 眼生理の異常 | 神経系生理の異常 | 突然心臓死 | 脂肪肝 | 腎動脈狭窄 | 腎脂肪症 | 腱形態異常 | 腱黄色腫症 | 視神経ニューロパチー | 関節痛 | 高βリポタンパク血症 | 高コレステロール血症 | 高脂血症 | 高血圧 | 黄色腫症" ] }, { "id": "NANDO:2200002", "label_en": "Mature B-cell lymphoblastic leukemia", "label_ja": "成熟B細胞急性リンパ性白血病", "yomigana": "せいじゅくびーさいぼうきゅうせいりんぱせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200002", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200021", "label_en": "Congenital myasthenic syndrome", "label_ja": "先天性筋無力症候群", "yomigana": "せんてんせいきんむりょくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200021", "notificationNumber": "12", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Apneic episodes precipitated by illness", "fatigue", "stress | Areflexia | Arthrogryposis multiplex congenita | Ataxia | Bulbar palsy | Central sleep apnea | Congenital hip dislocation | Cyanosis | Decreased fetal movement | Diplopia | Distal amyotrophy | Distal lower limb muscle weakness | Dysphagia | Dysphonia | EEG with polyspike wave complexes | EMG: impaired neuromuscular transmission | EMG: myopathic abnormalities | Easy fatigability | Episodic respiratory distress | Esotropia | Fatigable weakness | Feeding difficulties | Frontalis muscle weakness | Gait disturbance | Gastroesophageal reflux | Generalized muscle weakness | High palate | Hypernasal speech | Hyporeflexia | Hypotonia | Intellectual disability | Intermittent episodes of respiratory insufficiency due to muscle weakness | Joint hypermobility | Kyphoscoliosis | Limb-girdle muscle weakness | Long face | Low-set ears | Microretrognathia | Motor delay | Motor polyneuropathy | Muscle fiber atrophy | Narrow jaw | Nasal regurgitation | Neck muscle weakness | Neuropathic spinal arthropathy | Nystagmus | Obstructive sleep apnea | Ophthalmoplegia | Pectus carinatum | Pes cavus | Polyhydramnios | Poor head control | Poor suck | Proximal muscle weakness | Ptosis | Recurrent respiratory infections | Respiratory arrest | Seizure | Sensorineural hearing impairment | Spinal rigidity | Stridor | Sudden episodic apnea | Waddling gait | Weak cry" ], "symptoms_ja_list": [ "はと胸 | よたつき歩行 | チアノーゼ | 中枢性睡眠時無呼吸 | 先天性多発性関節拘縮 | 先天性股関節脱臼 | 全身性筋虚弱 | 内斜視 | 凹足 | 前頭筋虚弱 | 反射低下 | 反復性呼吸器感染症 | 吸啜不全 | 呼吸停止 | 呼吸窮迫エピソード | 喘鳴 | 嚥下障害 | 多棘除波複合を伴う脳波 | 小顎後退 | 弱い泣き声 | 後側弯 | 感音難聴 | 易疲労性 | 歩行障害 | 無反射 | 狭い下顎 | 球麻痺 | 疲労性虚弱 | 疾病，疲労，ストレスに誘発され無呼吸エピソード | 発作 | 発音障害 | 眼振 | 眼瞼下垂 | 眼筋麻痺 | 知的障害 | 突然無呼吸エピソード | 筋緊張低下 | 筋線維萎縮 | 筋虚弱による呼吸不全の間歇的エピソード | 筋電図: ミオパチー異常 | 筋電図: 神経筋伝達障害 | 羊水過多 | 耳介低位 | 肢帯筋虚弱 | 胃食道逆流 | 胎動減少 | 脊椎変形 | 脊椎強直 | 複視 | 近位筋虚弱 | 運動失調 | 運動性ポリニューロパチー | 運動発達遅滞 | 遠位下肢筋虚弱 | 遠位筋萎縮 | 長い顔 | 閉塞性睡眠時無呼吸 | 関節過動 | 頸定不全 | 頸部筋虚弱 | 食餌摂取障害 | 高口蓋 | 鼻声発語 | 鼻逆流" ] }, { "id": "NANDO:2200115", "label_en": "Other nephrotic syndromes", "label_ja": "1から6までに掲げるもののほか、ネフローゼ症候群", "yomigana": "1から6までにかかげるもののほか、ねふろーぜしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200115", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201008", "label_en": "Limited form of granulomatosis with polyangiitis", "label_ja": "限局型多発血管炎性肉芽腫症", "yomigana": "げんきょくがたたはつけっかんえんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201008", "notificationNumber": "44", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200862", "label_en": "Acquired partial lipodystrophy", "label_ja": "後天性部分性脂肪萎縮症", "yomigana": "こうてんせいぶぶんせいしぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200862", "notificationNumber": "265", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Arthralgia | Autoimmunity | Decreased circulating complement C3 concentration | Generalized hirsutism | Glomerulopathy | Hearing impairment | Hepatic steatosis | Immunodeficiency | Increased total lymphocyte count | Insulin resistance | Intellectual disability | Lipoatrophy | Microscopic hematuria | Myopathy | Progeroid facial appearance | Proteinuria | Seizure" ], "symptoms_ja_list": [ "インスリン抵抗性 | プロゲリア様顔貌 | ミオパチー | リンパ球増多症 | 免疫不全 | 全身性多毛 | 発作 | 知的障害 | 糸球体症 | 脂肪肝 | 脂肪萎縮 | 自己免疫 | 蛋白尿 | 血清補体 C3減少 | 関節痛 | 難聴 | 顕微血尿" ] }, { "id": "NANDO:1200431", "label_en": "Retinitis pigmentosa", "label_ja": "網膜色素変性症", "yomigana": "もうまくしきそへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200431", "notificationNumber": "90", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal electroretinogram | Abnormal retinal pigmentation | Abnormal retinal vascular morphology | Attenuation of retinal blood vessels | Autosomal dominant inheritance | Autosomal recessive inheritance | Blindness | Color vision defect | Conductive hearing impairment | Constriction of peripheral visual field | Cystoid macular edema | Glaucoma | Hyperinsulinemia | Keratoconus | Nyctalopia | Nystagmus | Ophthalmoplegia | Optic atrophy | Optic disc drusen | Optic disc pallor | Peripheral visual field loss | Photophobia | Posterior subcapsular cataract | Progressive night blindness | Reduced visual acuity | Retinal atrophy | Retinal degeneration | Rod-cone dystrophy | Sensorineural hearing impairment | Spicular pigmentation of the retina | Visual impairment | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | 中心視力減少 | 伝音難聴 | 円錐角膜 | 夜盲症 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 後嚢下白内障 | 感音難聴 | 末梢視野喪失 | 盲 | 眼振 | 眼筋麻痺 | 網膜変性 | 網膜色素異常 | 網膜萎縮 | 網膜血管の異常 | 網膜血管減弱 | 網膜電図異常 | 緑内障 | 羞明 | 色素性網膜炎 | 色覚異常 | 視力障害 | 視神経杯ドルーゼ | 視神経杯蒼白 | 視神経萎縮 | 視野狭窄 | 進行性夜盲症 | 類嚢胞性黄斑浮腫 | 骨小棘色素性網膜症 | 高インスリン血症" ] }, { "id": "NANDO:2200870", "label_en": "Central core disease", "label_ja": "セントラルコア病", "yomigana": "せんとらるこあびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200870", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100234", "symptoms_en_list": [ "Ankle flexion contracture | Autosomal dominant inheritance | Autosomal recessive inheritance | Bulbar signs | Centrally nucleated skeletal muscle fibers | Congenital hip dislocation | Easy fatigability | Elevated circulating creatine kinase activity | Feeding difficulties | Fetal akinesia sequence | Generalized muscle weakness | Hyporeflexia | Hypotonia | Increased variability in muscle fiber diameter | Infantile onset | Joint hypermobility | Kyphoscoliosis | Malignant hyperthermia | Mitral valve prolapse | Motor delay | Multiple joint contractures | Muscle stiffness | Muscle weakness | Myopathy | Nemaline bodies | Neonatal hypotonia | Neonatal onset | Neonatal respiratory distress | Ophthalmoplegia | Pelvic girdle muscle weakness | Pes planus | Respiratory insufficiency due to muscle weakness | Scoliosis | Skeletal muscle atrophy | Slowly progressive | Talipes | Talipes equinovarus | Type 1 muscle fiber predominance" ], "symptoms_ja_list": [ "1型筋線維有意 | ネマリン小体 | ミオパチー | 中央核骨格筋線維 | 側弯 | 僧帽弁逸脱 | 先天性股関節脱臼 | 全身性筋虚弱 | 内反尖足 | 反射低下 | 多発性関節拘縮 | 尖足 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 後側弯 | 悪性高体温症 | 扁平足 | 新生児呼吸窮迫 | 新生児筋緊張低下 | 易疲労性 | 球症状 | 眼筋麻痺 | 筋硬直 | 筋緊張低下 | 筋線維直径の多様性増加 | 筋萎縮 | 筋虚弱 | 筋虚弱による呼吸不全 | 胎児無動シークェンス | 血清 creatine phosphokinase上昇 | 足関節拘縮 | 運動発達遅滞 | 関節過動 | 食餌摂取障害 | 骨盤帯筋筋虚弱" ] }, { "id": "NANDO:1201059", "label_en": "Baller-Gerold syndrome", "label_ja": "バレー・ジェロルド症候群", "yomigana": "ばれー・じぇろるどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201059", "notificationNumber": "186", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal carpal morphology | Abnormal heart morphology | Abnormal localization of kidney | Abnormal metacarpal morphology | Abnormal vertebral morphology | Abnormality of the kidney | Abnormality of the ureter | Absent radius | Absent thumb | Agenesis of corpus callosum | Anal atresia | Anomalous splenoportal venous system | Anteriorly placed anus | Aphalangy of the hands | Aplasia of metacarpal bones | Aplasia/Hypoplasia of the patella | Aplasia/Hypoplasia of the radius | Aplasia/Hypoplasia of the thumb | Astigmatism | Autosomal recessive inheritance | Bicoronal synostosis | Bifid uvula | Bowing of the long bones | Brachycephaly | Brachyturricephaly | Broad forehead | Carpal bone aplasia | Carpal synostosis | Chiari malformation | Choanal stenosis | Cleft palate | Concave nasal ridge | Conductive hearing impairment | Congenital onset | Coronal craniosynostosis | Craniosynostosis | Dermal atrophy | Downslanted palpebral fissures | Epicanthus | Erythema | Failure to thrive in infancy | Feeding difficulties | Finger aplasia | Flat forehead | Forearm undergrowth | Frontal bossing | Growth delay | High myopia | High palate | Hydrocephalus | Hydronephrosis | Hypertelorism | Hypoplasia of the radius | Hypoplasia of the ulna | Hypotelorism | Intellectual disability | Intrauterine growth retardation | Lambdoidal craniosynostosis | Large fontanelles | Limited elbow movement | Limited shoulder movement | Long upper lip | Low-set ears | Lymphoma | Malabsorption | Micrognathia | Midface capillary hemangioma | Mixed hearing impairment | Motor delay | Myopia | Narrow face | Narrow mouth | Narrow nasal bridge | Nystagmus | Obstructive sleep apnea | Oligodactyly | Optic atrophy | Optic nerve hypoplasia | Osteosarcoma | Oxycephaly | Patellar aplasia | Patellar hypoplasia | Perineal fistula | Poikiloderma | Polymicrogyria | Posteriorly rotated ears | Prominent forehead | Prominent nasal bridge | Proptosis | Radial deviation of the hand | Rectovaginal fistula | Rib fusion | Sagittal craniosynostosis | Scoliosis | Seizure | Severe intrauterine growth retardation | Severe short stature | Short humerus | Short nose | Short stature | Spina bifida occulta | Strabismus | Thin vermilion border | Turricephaly | Ulnar bowing | Underdeveloped nasal alae | Urogenital fistula | Vesicoureteral reflux | Wide anterior fontanel" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | リンパ腫 | 両冠状縫合早期癒合 | 両眼接近 | 両眼隔離 | 中手骨形態異常 | 中手骨無形成 | 乏指趾症 | 乱視 | 乳児期の成長障害 (成長不全) | 二分した口蓋垂 | 人字縫合早期癒合 | 会陰瘻 | 伝音難聴 | 低身長 | 側弯 | 内眼角贅皮 | 冠状縫合早期癒合 | 前方位肛門 | 前腕成長不良 | 前頭突出", "額突出 | 口蓋裂 | 吸収障害 | 塔状頭 | 多小脳回 | 多形皮膚萎縮症 (ポイキロデルマ) | 大きな泉門 | 子宮内成長遅滞 | 小顎 | 尺骨低形成 | 尺骨湾曲 | 尿管異常 | 常染色体潜性遺伝 | 幅広い大泉門 | 幅広い額 | 平坦な額 | 後鼻孔狭窄 | 循環器系の形態異常 | 心中隔 | 心形態の異常 | 成長遅滞 | 手の橈側偏位 | 手根骨の異常 | 手根骨無形成 | 手根骨癒合 | 指無形成 | 斜視 | 橈骨低形成 | 橈骨欠損 | 橈骨無形成/低形成 | 母指欠損 | 母指無形成/低形成 | 水腎症 | 水頭症 | 泌尿生殖器瘻 | 混合性難聴 | 潜在性二分脊椎 | 無指骨(手) | 狭い口 | 狭い顔 | 狭い鼻梁 | 発作 | 皮膚萎縮 | 目立つ額 | 目立つ鼻梁 | 直腸膣瘻 | 眼振 | 眼球突出 | 眼瞼裂斜下 | 矢状縫合早期癒合 | 知的障害 | 短い上腕骨 | 短い鼻 | 短塔状頭 | 短頭 | 窪んだ鼻梁 | 紅斑 | 耳介低位 | 耳介後方回転 | 肋骨癒合 | 肘運動制限 | 肩運動制限 | 脊椎の異常 | 脳梁無発生 of | 脾門脈静脈系奇形 | 腎位置異常 | 腎異常 | 膀胱尿管逆流 | 膝蓋骨低形成 | 膝蓋骨無形成/低形成 | 膝蓋骨無形成無形成 | 薄い唇紅部縁 | 視神経低形成 | 視神経萎縮 | 近視 | 運動発達遅滞 | 重度の低身長 | 重度の子宮内成長遅滞 | 重度近視 | 鎖肛 | 長い上口唇 | 長管骨湾曲 | 閉塞性睡眠時無呼吸 | 頭蓋合骨症 | 顔面中部毛細血管腫 | 食餌摂取障害 | 骨肉腫 | 高口蓋 | 鼻翼未発達" ] }, { "id": "NANDO:2200338", "label_en": "Radiation-induced hypothyroidism", "label_ja": "放射線性甲状腺機能低下症", "yomigana": "ほうしゃせんせいこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200338", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200845", "label_en": "Hepatic GSD type IIId", "label_ja": "肝型糖原病IIId型", "yomigana": "かんがたとうげんびょう3でぃーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200845", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200047", "label_en": "Spinocerebellar ataxia type 7", "label_ja": "脊髄小脳失調症7型", "yomigana": "せきずいしょうのうしっちょうしょう7がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200047", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200434", "label_en": "Autosomal recessive retinitis pigmentosa", "label_ja": "網膜色素変性症（常染色体劣性遺伝型）", "yomigana": "もうまくしきそへんせいしょう（じょうせんしょくたいれっせいいでんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200434", "notificationNumber": "90", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200328", "label_en": "MHC class I deficiency", "label_ja": "MHCクラスI欠損症", "yomigana": "えむえいちしーくらす1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200328", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200216", "label_en": "Polymorphic ventricular premature beat", "label_ja": "多源性心室期外収縮", "yomigana": "たげんせいしんしつきがいしゅうしゅく", "url": "http://nanbyodata.jp/ontology/NANDO_2200216", "notificationNumber": "67", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100047", "symptoms_en_list": [ "Atrial fibrillation | Cardiac arrest | Palpitations | Sudden cardiac death | Supraventricular tachycardia | Syncope | Ventricular fibrillation | Ventricular tachycardia | Vertigo" ], "symptoms_ja_list": [ "上室性頻拍 | 動悸 | 失心 | 心停止 | 心室性 頻拍 | 心室細動 | 心房細動 | 眩暈 | 突然心臓死" ] }, { "id": "NANDO:1200612", "label_en": "Autosomal recessive epidermolytic ichthyosis", "label_ja": "常染色体劣性表皮融解性魚鱗癬", "yomigana": "じょうせんしょくたいれっせいひょうひゆうかいせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200612", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200494", "label_en": "Fukuyama type congenital muscular dystrophy", "label_ja": "福山型先天性筋ジストロフィー", "yomigana": "ふくやまがたせんてんせいきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200494", "notificationNumber": "113", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of eye movement | Agenesis of corpus callosum | Aplasia/Hypoplasia of the corpus callosum | Areflexia | Atrial septal defect | Autosomal recessive inheritance | Brachycephaly | Calf muscle hypertrophy | Camptodactyly of finger | Cataract | Cerebellar cyst | Cerebellar hypoplasia | Delayed speech and language development | Dilated cardiomyopathy | Dolichocephaly | EEG abnormality | EMG abnormality | Elevated circulating creatine kinase activity | Encephalocele | Exaggerated startle response | Flexion contracture | Gait disturbance | Generalized hypotonia | Glaucoma | Global developmental delay | Holoprosencephaly | Hydrocephalus | Hypermetropia | Hypoplasia of the brainstem | Hypoplasia of the pyramidal tract | Hypotonia | Infantile onset | Intellectual disability | Intrauterine growth retardation | Lissencephaly | Mask-like facies | Microphthalmia | Muscle weakness | Muscular dystrophy | Myocardial fibrosis | Myopathy | Myopia | Optic atrophy | Pachygyria | Pectus excavatum | Plagiocephaly | Polymicrogyria | Pulmonic stenosis | Respiratory insufficiency | Retinal detachment | Retinal dysplasia | Scoliosis | Seizure | Severe intellectual disability | Skeletal muscle atrophy | Spinal rigidity | Strabismus | Transposition of the great arteries | Type II lissencephaly | Ventriculomegaly | Visual impairment | Weak cry" ], "symptoms_ja_list": [ "II型滑脳症 | ミオパチー | 仮面様顔貌 | 側弯 | 全前脳胞症 | 全般性発達遅滞 | 全身性筋緊張低下 | 呼吸不全 | 多小脳回 | 大血管転位 | 子宮内成長遅滞 | 小眼球 | 小脳低形成 | 小脳嚢胞 | 屈指 | 屈曲拘縮 | 常染色体潜性遺伝 | 弱い泣き声 | 心房中隔欠損 | 心筋線維症 | 拡張型心筋症 | 斜視 | 斜頭 | 歩行障害 | 水頭症 | 滑脳症 | 漏斗胸 | 無反射 | 発作 | 発語および言語発達遅延 | 白内障 | 眼運動の異常 | 知的障害 | 知的障害", "重度 | 短頭 | 筋ジストロフィー | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 筋電図異常 | 網膜剥離 | 網膜異形成 | 緑内障 | 肺動脈狭窄 | 脊椎強直 | 脳回肥厚 | 脳室拡大 | 脳幹低形成 | 脳梁無形成/低形成 | 脳梁無発生 of | 脳波異常 | 脳瘤 | 腓腹筋肥大 | 血清 creatine phosphokinase上昇 | 視力障害 | 視神経萎縮 | 誇張された驚愕反応 | 近視 | 遠視 | 錐体路低形成 | 長頭" ] }, { "id": "NANDO:2100046", "label_en": "Bundle branch block", "label_ja": "脚ブロック", "yomigana": "きゃくぶろっく", "url": "http://nanbyodata.jp/ontology/NANDO_2100046", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100153", "label_en": "vasculitic syndrome", "label_ja": "血管炎症候群", "yomigana": "けっかんえんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100153", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100151", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200567", "label_en": "Mucolipidosis II", "label_ja": "ムコリピドーシスII型", "yomigana": "むこりぴどーしす2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200567", "notificationNumber": "135", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal cardiovascular system morphology | Abnormal long bone morphology | Abnormal mitral valve morphology | Abnormal rib cage morphology | Anteverted nares | Aortic regurgitation | Appendicular hypotonia | Arthrogryposis multiplex congenita | Atlantoaxial dislocation | Autosomal recessive inheritance | Axial hypotonia | Beaking of vertebral bodies T12-L3 | Brittle hair | Bullet-shaped phalanges of the hand | Camptodactyly | Cardiomegaly | Cardiomyopathy | Carpal bone hypoplasia | Cavernous hemangioma | Cerebral cortical atrophy | Childhood onset | Coarse facial features | Cognitive impairment | Conductive hearing impairment | Congestive heart failure | Coxa valga | Craniosynostosis | Death in childhood | Decreased movement range in interphalangeal joints | Deficiency of N-acetylglucosamine-1-phosphotransferase | Depressed nasal bridge | Diastasis recti | Dry hair | Elevated circulating beta-hexosaminidase activity | Enlarged kidney | Epicanthus | Expressive language delay | Failure to thrive | Fetal onset | Fine hair | Flared iliac wing | Flat acetabular roof | Flat face | Gastrostomy tube feeding in infancy | Generalized hypotonia | Gingival overgrowth | Global developmental delay | Growth delay | Hepatomegaly | Hepatosplenomegaly | High forehead | Hip contracture | Hip dislocation | Hip dysplasia | Hoarse voice | Hypertelorism | Hypertrophic cardiomyopathy | Hypopigmentation of the skin | Hypoplasia of the odontoid process | Hypoplastic scapulae | Hyporeflexia | Hypotonia | Inability to walk | Increased iduronate sulfatase level | Infantile onset | Inguinal hernia | Knee flexion contracture | Kyphosis | Large sella turcica | Left ventricular hypertrophy | Limitation of joint mobility | Limited shoulder movement | Limited wrist movement | Long philtrum | Lower thoracic interpediculate narrowness | Lumbar scoliosis | Macroglossia | Megalocornea | Metaphyseal widening | Micrognathia | Mitral regurgitation | Motor delay | Mucopolysacchariduria | Myelopathy | Narrow chest | Narrow forehead | Neonatal hypotonia | Obstructive sleep apnea | Oligohydramnios | Opacification of the corneal stroma | Osteopenia | Otitis media | Ovoid vertebral bodies | Palpebral edema | Patent foramen ovale | Pathologic fracture | Pectus excavatum | Poor head control | Poor speech | Postnatal growth retardation | Premature anterior fontanel closure | Progressive alveolar ridge hypertrophy | Prominent metopic ridge | Protuberant abdomen | Pulmonic regurgitation | Recurrent bronchitis | Recurrent otitis media | Recurrent pneumonia | Recurrent respiratory infections | Respiratory failure requiring assisted ventilation | Restricted chest movement | Restrictive ventilatory defect | Sensorineural hearing impairment | Severe global developmental delay | Severe postnatal growth retardation | Shallow orbits | Short long bone | Short stature | Sparse hair | Splenomegaly | Split hand | Stridor | Talipes equinovarus | Telangiectases of the cheeks | Thickened calvaria | Thickened skin | Thoracolumbar kyphoscoliosis | Trigonocephaly | Umbilical hernia | Varus deformity of humeral neck | Weight loss | White hair | Wide intermamillary distance | Wide mouth" ], "symptoms_ja_list": [ "N-acetylglucosamine-1-phosphotransferase 欠乏症 | うっ血性心不全 | くちばし状T12-L3椎体骨 | ミエロパチー | ムコ多糖症 | 三角頭蓋 | 上向きの鼻孔 | 上腕骨頸部の内反変形 | 下胸椎椎弓根間狭窄 | 両眼隔離 | 中耳炎 | 乳児期の胃瘻管栄養 | 乾いた毛髪 | 伝音難聴 | 低身長 | 体幹の筋緊張低下 | 体肢筋筋緊張低下 | 体重喪失 | 僧帽弁の異常 | 僧帽弁逆流 | 先天性多発性関節拘縮 | 全般性発達遅滞 | 全身性筋緊張低下 | 内反尖足 | 内眼角贅皮 | 分厚い皮膚 | 分厚い頭蓋冠 | 卵円孔開存 | 卵形椎体骨 | 反射低下 | 反復性中耳炎 | 反復性呼吸器感染症 | 反復性気管支炎 | 反復性肺炎 | 喘鳴 | 嗄声 | 外反股 | 大きなトルコ鞍 | 大動脈弁の異常 | 大動脈逆流 | 大脳皮質萎縮 | 小顎 | 屈指 | 左室肥大 | 巨大角膜 | 巨舌 | 常染色体潜性遺伝 | 幅広い乳頭間距離 | 幅広い口 | 平坦な寛骨臼蓋 | 平坦な顔 | 弾丸型の手の指骨 | 後弯 | 循環器系の形態異常 | 心拡大 | 心筋症 | 感音難聴 | 成長遅滞 | 成長障害 (成長不全) | 手根骨低形成 | 手関節運動制限 | 拘束性肺疾患 | 指間関節の運動範囲減少 | 新生児筋緊張低下 | 早発性大泉門閉鎖 | 歩行不能 | 歯状突起低形成 | 歯肉過成長 | 浅い眼窩 | 海綿状血管腫 | 漏斗胸 | 狭い胸郭 | 狭い額 | 環軸椎脱臼 | 生後の成長遅滞 | 疎な毛髪 | 病的骨折 | 発語不全 | 発語遅延 | 白髪 | 皮膚低色素 | 目立つ前頭縫合隆起 | 眼瞼浮腫 | 短い長管骨 | 筋緊張低下 | 粗な顔貌 | 細い毛髪 | 羊水過少 | 肋骨胸郭の異常 | 肝脾腫 | 肝腫 | 股関節拘縮 | 股関節異形成 | 股関節脱臼 | 肥大型心筋症 | 肩甲骨低形成 | 肩運動制限 | 肺不全 | 胸腰椎後側弯 | 胸郭運動制限 | 脆い毛髪 | 脾腫 | 腎拡大 | 腰椎側弯 | 腸骨翼フレア | 腹直筋離開 | 腹部突出 | 膝屈曲拘縮 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 血清 beta-hexosaminidase の増加 | 血清 iduronate sulfatase 活性の増加 | 裂手 | 補助換気が必要な呼吸不全 | 角膜間質混濁形成 | 認知障害 | 進行性歯槽隆起肥大 | 運動発達遅滞 | 重度の全般性発達遅滞 | 重度の生後の成長遅滞 | 長い人中 | 長管骨形態の異常 | 閉塞性睡眠時無呼吸 | 関節運動制限 | 頬部毛細血管拡張 | 頭蓋合骨症 | 頸定不全 | 骨幹端拡大 | 骨減少症 | 高い額 | 鼠径ヘルニア" ] }, { "id": "NANDO:2100219", "label_en": "Rett syndrome", "label_ja": "レット症候群", "yomigana": "れっとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100219", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100084", "label_en": "Patent ductus arteriosus", "label_ja": "動脈管開存症", "yomigana": "どうみゃくかんかいぞんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100084", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201130", "label_en": "Hereditary β2-microglobulin amyloidosis", "label_ja": "遺伝性β 2-ミクログロブリンアミロイドーシス", "yomigana": "いでんせいべーた2みくろぐろぶりんあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201130", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100224", "label_en": "Fragile X syndrome", "label_ja": "脆弱Ｘ症候群", "yomigana": "ぜいじゃくえっくすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100224", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1100002", "label_en": "Metabolic disease", "label_ja": "代謝系疾患", "yomigana": "たいしゃけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100002", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200611", "label_en": "Alpha-1-antitrypsin deficiency", "label_ja": "α1-アンチトリプシン欠損症", "yomigana": "あるふぁ1あんちとりぷしんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200611", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100174", "symptoms_en_list": [ "Asthma | Autosomal recessive inheritance | Bronchiectasis | Bronchitis | Cholestasis | Chronic bronchitis | Chronic pulmonary obstruction | Cirrhosis | Cough | Dyspnea | Elevated circulating hepatic transaminase concentration | Emphysema | Failure to thrive in infancy | Hemoptysis | Hepatic fibrosis | Hepatitis | Hepatocellular carcinoma | Jaundice | Neonatal unconjugated hyperbilirubinemia | Panniculitis | Portal hypertension | Prolonged neonatal jaundice | Splenomegaly" ], "symptoms_ja_list": [ "乳児期の成長障害 (成長不全) | 呼吸困難 | 喀血 | 喘息 | 外層 | 常染色体潜性遺伝 | 慢性気管支炎 | 慢性閉塞性肺疾患 | 新生児不抱合型高ビリルビン血症 | 気管支拡張 | 気管支炎 | 肝トランスアミナーゼ上昇 | 肝炎 | 肝硬変 | 肝細胞癌 | 肝線維症 | 肺気腫 | 胆汁うっ滞 | 脂肪織炎 | 脾腫 | 遷延性新生児黄疸 | 門脈圧亢進 | 黄疸" ] }, { "id": "NANDO:1200825", "label_en": "Glycogen storage diseases type II", "label_ja": "筋型糖原病II型", "yomigana": "きんがたとうげんびょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200825", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal internal carotid artery morphology | Areflexia | Atelectasis | Bowel incontinence | Camptocormia | Cardiomegaly | Chronic pain | Cognitive impairment | Cranial nerve paralysis | Delayed speech and language development | Diaphragmatic weakness | Difficulty climbing stairs | Dilatation of the cerebral artery | Dysarthria | Dysphagia | EMG: myopathic abnormalities | Elevated circulating creatine kinase activity | Exercise intolerance | Exertional dyspnea | Facial hypotonia | Failure to thrive | Fatigue | Feeding difficulties in infancy | Flexion contracture | Floppy infant | Gait disturbance | Generalized muscle weakness | Gowers sign | Growth delay | Hearing impairment | Hepatomegaly | Hyperlordosis | Hypertrophic cardiomyopathy | Hypomimic face | Hyporeflexia | Impaired mastication | Inability to walk | Left ventricular hypertrophy | Lower limb muscle weakness | Macroglossia | Motor axonal neuropathy | Motor delay | Muscle weakness | Myalgia | Oligosacchariduria | Orthopnea | Osteoporosis | Progressive proximal muscle weakness | Ptosis | Recurrent respiratory infections | Respiratory distress | Respiratory failure | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Respiratory tract infection | Scoliosis | Shortened PR interval | Sleep apnea | Thoracic aortic aneurysm | Tongue fasciculations | Tongue muscle weakness | Transient ischemic attack | Vasculitis" ], "symptoms_ja_list": [ "Gowers サイン | オリゴ糖尿 | 一過性虚血発作 | 下肢筋虚弱 | 乳児筋性筋緊張低下 | 仮面顔 | 側弯 | 全身性筋虚弱 | 前屈症 | 前弯 | 反射低下 | 反復性呼吸器感染症 | 呼吸不全 | 呼吸器感染 | 呼吸窮迫 | 咀嚼こんな | 嚥下障害 | 大脳動脈瘤 | 屈曲拘縮 | 左室肥大 | 巨舌 | 心拡大 | 慢性疼痛 | 成長遅滞 | 成長障害 (成長不全) | 構音障害 | 横隔膜虚弱 | 歩行不能 | 歩行障害 | 無反射 | 無気肺 | 疲労 | 発語および言語発達遅延 | 眼瞼下垂 | 睡眠時無呼吸 | 短い PR 間隔 | 筋痛 | 筋虚弱 | 筋虚弱による呼吸不全 | 筋電図: ミオパチー異常 | 肝腫 | 肥大型心筋症 | 胸部大動脈瘤 | 脳神経麻痺 | 舌線維束性収縮 | 舌運動障害 | 血清 creatine phosphokinase上昇 | 血管炎 | 認知障害 | 起坐呼吸 | 進行性近位筋虚弱 | 運動不耐症 | 運動性呼吸困難 | 運動性軸索ニューロパチー | 運動発達遅滞 | 遺糞症 | 階段の登り困難 | 難聴 | 顔面筋緊張低下 | 食餌摂取障害 in infancy | 骨粗鬆症" ] }, { "id": "NANDO:2200928", "label_en": "Autoimmune hepatitis", "label_ja": "自己免疫性肝炎", "yomigana": "じこめんえきせいかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200928", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100263", "symptoms_en_list": [ "Abdominal pain | Acute hepatitis | Anti-smooth muscle antibody positivity | Antineutrophil antibody positivity | Antinuclear antibody positivity | Anxiety | Arthralgia | Arthritis | Ascites | Chronic fatigue | Cirrhosis | Depression | Diffuse hepatic steatosis | Elevated circulating hepatic transaminase concentration | Fulminant hepatitis | Gastrointestinal hemorrhage | Glomerulonephritis | Hepatocellular carcinoma | Increased circulating IgG concentration | Increased circulating immunoglobulin concentration | Increased total bilirubin | Inflammation of the large intestine | Jaundice | Spider hemangioma | Splenomegaly | Thyroiditis | Ulcerative colitis | Viral hepatitis | Vitiligo" ], "symptoms_ja_list": [ "IgG 値増加 | うつ | くも状血管腫 | びまん性脂肪肝 | ウイルス性肝炎 | 不安 | 大腸の炎症 | 平滑筋 抗体陽性 | 急性肝炎 | 慢性疲労 | 抗好中球抗体陽性 | 抗核抗体陽性 | 潰瘍性大腸炎 | 激症肝炎 | 甲状腺炎 | 白斑 | 糸球体腎炎 | 総ビリルビン増加 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝細胞癌 | 胃腸出血 | 脾腫 | 腹水 | 腹痛 | 関節炎 | 関節痛 | 高ガンマグロブリン血症 | 黄疸" ] }, { "id": "NANDO:2100172", "label_en": "Connective tissue disorder", "label_ja": "結合組織異常症", "yomigana": "けつごうそしきいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100172", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200748", "label_en": "Idiopathic pulmonary alveolar proteinosis", "label_ja": "特発性肺胞蛋白症", "yomigana": "とくはつせいはいほうたんぱくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200748", "notificationNumber": "229", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal circulating protein concentration | Abnormality of the upper respiratory tract | Chest pain | Clubbing | Cough | Cyanosis | Dyspnea | Fatigue | Fever | Foam cells | Hemoptysis | Hypoxemia | Insidious onset | Intraalveolar phospholipid accumulation | Pneumonia | Recurrent respiratory infections | Restrictive ventilatory defect | Sporadic | Weight loss" ], "symptoms_ja_list": [ "ばち状化 | チアノーゼ | 上気道の異常 | 低酸素血症への感受性の減少 | 体重喪失 | 共通 | 反復性呼吸器感染症 | 呼吸困難 | 喀血 | 外層 | 孤発性 | 循環性タンパク値の異常 | 拘束性肺疾患 | 泡沫細胞 | 疲労 | 発熱 | 肺炎 | 肺胞タンパク沈着症" ] }, { "id": "NANDO:1200959", "label_en": "9q34 deletion syndrome", "label_ja": "9q34欠失症候群", "yomigana": "9きゅー34けっしつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200959", "notificationNumber": "310", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Advanced eruption of teeth | Agenesis of corpus callosum | Aggressive behavior | Anteverted nares | Arrhythmia | Atypical behavior | Autistic behavior | Bicuspid aortic valve | Bowel incontinence | Brachycephaly | Broad forehead | Cerebral cortical atrophy | Chronic otitis media | Coarctation of aorta | Coarse facial features | Constipation | Cryptorchidism | Delayed eruption of teeth | Delayed speech and language development | Developmental regression | Downturned corners of mouth | Dyspnea | Everted lower lip vermilion | Exaggerated cupid's bow | Facial asymmetry | Gastroesophageal reflux | Global developmental delay | Hearing impairment | Hernia | Highly arched eyebrow | Hydronephrosis | Hypertelorism | Hypoplasia of penis | Hypospadias | Hypotonia | Limitation of joint mobility | Macroglossia | Malar flattening | Mandibular prognathia | Microcephaly | Micropenis | Motor stereotypy | Obesity | Pulmonary artery stenosis | Pyloric stenosis | Recurrent respiratory infections | Renal cyst | Renal insufficiency | Scoliosis | Seizure | Self-injurious behavior | Self-mutilation | Severe intellectual disability | Short nose | Short stature | Sleep disturbance | Supernumerary nipple | Synophrys | Talipes equinovarus | Tented upper lip vermilion | Tetralogy of Fallot | Thickened helices | Tracheomalacia | Upslanted palpebral fissure | Ventricular septal defect | Ventriculomegaly | Vesicoureteral reflux" ], "symptoms_ja_list": [ "Fallot 四徴症 | テント状上口唇唇紅部 | ヘルニア | 上向きの鼻孔 | 下口唇唇紅部外反 | 下顎突出 | 不整脈 | 両眼隔離 | 二弁性大動脈弁 | 低身長 | 便秘 | 停留精巣 | 側弯 | 全般性発達遅滞 | 内反尖足 | 分厚い耳輪 | 副甲状腺乳頭 | 反復性呼吸器感染症 | 口角下垂 | 呼吸困難 | 大動脈縮窄 | 大脳皮質萎縮 | 小陰茎 | 小頭 | 尿道下裂 | 巨舌 | 常同行動 | 幅広い額 | 平坦な頬 | 幽門狭窄 | 心室中隔欠損 | 慢性中耳炎 | 攻撃的行動 | 歯萠出促進 | 歯萠出遅延 | 気管軟化症 | 水腎症 | 発作 | 発語および言語発達遅延 | 発達退行 | 眼瞼裂斜上 | 睡眠障害 | 知的障害", "重度 | 短い鼻 | 短頭 | 筋緊張低下 | 粗な顔貌 | 肥満 | 肺動脈狭窄 | 胃食道逆流 | 脳室拡大 | 脳梁無発生 of | 腎不全 | 腎嚢胞 | 膀胱尿管逆流 | 自傷行動 | 自己切断 | 自閉性行動 | 行動異常 | 誇張されたキューピッドの弓 | 連続眉毛 | 遺糞症 | 関節運動制限 | 陰茎低形成 | 難聴 | 顔面非対称 | 高位の弓形眉毛" ] }, { "id": "NANDO:2200751", "label_en": "Barth syndrome", "label_ja": "Barth症候群", "yomigana": "ばーすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200751", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "3-Methylglutaconic aciduria | Abnormal mitochondrial morphology | Abnormality of neutrophils | Arrhythmia | Broad forehead | Congestive heart failure | Decreased total granulocyte count | Decreased total neutrophil count | Deeply set eye | Dilated cardiomyopathy | Endocardial fibroelastosis | Exercise intolerance | Failure to thrive | Fair hair | Fatigue | Full cheeks | Gait disturbance | Global developmental delay | Gowers sign | Growth delay | High forehead | Hypertrophic cardiomyopathy | Hypochromic microcytic anemia | Infantile onset | Intermittent lactic acidemia | Macrotia | Mandibular prognathia | Motor delay | Myopathic facies | Pointed chin | Recurrent bronchitis | Recurrent infections in infancy and early childhood | Round face | Skeletal myopathy | Talipes equinovarus | Tricuspid regurgitation | X-linked recessive inheritance" ], "symptoms_ja_list": [ "3-メチルグルタコン酸尿症 | Gowers サイン | X連鎖潜性遺伝 | うっ血性心不全 | ミオパチー顔貌 | ミトコンドリア形態異常 | 三尖弁逆流 | 下顎突出 | 不整脈 | 丸い顔 | 乳児期および早期小児期の反復性感染症 | 低色素性小球性貧血 | 全般性発達遅滞 | 内反尖足 | 反復性気管支炎 | 大きな頬 | 大耳 | 好中球の異常 | 好中球減少症 | 尖った下顎 | 幅広い額 | 心内膜線維弾性症 | 成長遅滞 | 成長障害 (成長不全) | 拡張型心筋症 | 歩行障害 | 疲労 | 肥大型心筋症 | 落ちくぼんだ眼 | 運動不耐症 | 運動発達遅滞 | 金髪 | 間歇的乳酸性酸血症 | 顆粒球減少症 | 骨格筋ミオパチー | 高い額" ] }, { "id": "NANDO:2100291", "label_en": "Bone disease", "label_ja": "骨系統疾患", "yomigana": "こつけいとうしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100291", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200260", "label_en": "Ebstein's anomaly", "label_ja": "エプスタイン病", "yomigana": "えぷすたいんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200260", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100080", "symptoms_en_list": [ "Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal endocardium morphology | Arrhythmia | Arterial thrombosis | Atrial fibrillation | Atrial septal defect | Autosomal recessive inheritance | Cerebral ischemia | Chest pain | Complete right bundle branch block | Congestive heart failure | Cyanosis | Dyspnea | Ebstein anomaly of the tricuspid valve | Fatigue | Hypoxemia | Imperforate tricuspid valve | Myocardial infarction | Palpitations | Patent ductus arteriosus | Pedal edema | Premature birth | Respiratory insufficiency | Stroke | Sudden cardiac death | Tricuspid regurgitation | Ventricular preexcitation" ], "symptoms_ja_list": [ "うっ血性心不全 | チアノーゼ | 三尖弁のEbstein 奇形 | 三尖弁逆流 | 三尖弁閉鎖 | 不整脈 | 低酸素血症への感受性の減少 | 共通 | 動悸 | 動脈管開存症 | 動脈血栓症 | 卒中 | 右脚ブロック | 呼吸不全 | 呼吸困難 | 大脳虚血 | 常染色体潜性遺伝 | 循環器系の形態異常 | 心中隔 | 心内膜の異常 | 心室早期興奮 | 心房中隔欠損 | 心房細動 | 心筋梗塞 | 早産 | 浮腫 (下肢) | 疲労 | 突然心臓死" ] }, { "id": "NANDO:1200007", "label_en": "Spinal muscular atrophy type IV", "label_ja": "脊髄性筋萎縮症IV型", "yomigana": "せきずいせいきんいしゅくしょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200007", "notificationNumber": "3", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Areflexia of lower limbs | Autosomal recessive inheritance | Calf muscle hypertrophy | Centrally nucleated skeletal muscle fibers | Degeneration of anterior horn cells | EMG: neuropathic changes | Hand tremor | Increased variability in muscle fiber diameter | Muscle fiber necrosis | Proximal amyotrophy | Proximal muscle weakness | Quadriceps muscle atrophy | Rimmed vacuoles | Slowly progressive | Spinal muscular atrophy | Tongue fasciculations | Type 1 muscle fiber predominance | Waddling gait | Young adult onset" ], "symptoms_ja_list": [ "1型筋線維有意 | よたつき歩行 | 下肢無反射 | 中央核骨格筋線維 | 前角細胞変性 | 大腿四頭筋萎縮 | 常染色体潜性遺伝 | 手振戦 | 筋線維壊死 | 筋線維直径の多様性増加 | 筋電図: 神経症変化 | 縁取り空胞 | 脊髄性筋萎縮 | 腓腹筋肥大 | 舌線維束性収縮 | 近位筋萎縮 | 近位筋虚弱" ] }, { "id": "NANDO:2200106", "label_en": "Immature teratoma", "label_ja": "未成熟奇形腫", "yomigana": "みせいじゅくきけいしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200106", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200218", "label_en": "Distal myopathy with rimmed vacuoles", "label_ja": "縁取り空胞を伴う遠位型ミオパチー", "yomigana": "ふちどりくうほうをともなうえんいがたみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200218", "notificationNumber": "30", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal muscle fiber morphology | Abnormality of the foot musculature | Absent Achilles reflex | Adult onset | Autoimmunity | Autosomal dominant inheritance | Autosomal recessive inheritance | Babinski sign | Cardiomyopathy | Deposits immunoreactive to beta-amyloid protein | Diminished deep tendon reflex | Distal amyotrophy | Distal lower limb muscle weakness | Distal muscle weakness | Dysphagia | EMG abnormality | EMG: myopathic abnormalities | EMG: myotonic discharges | Elevated circulating creatine kinase activity | Facial palsy | Fatty replacement of skeletal muscle | Feeding difficulties in infancy | Foot dorsiflexor weakness | Gait disturbance | Hip flexor weakness | Hyporeflexia | Hypothyroidism | Increased variability in muscle fiber diameter | Inflammatory myopathy | Limited shoulder movement | Limited wrist extension | Lower limb amyotrophy | Lower limb muscle weakness | Mildly elevated creatine kinase | Muscle fiber inclusion bodies | Muscle weakness | Myalgia | Proximal muscle weakness | Quadriceps muscle weakness | Ragged-red muscle fibers | Rimmed vacuoles | Scapular winging | Shoulder girdle muscle atrophy | Shoulder girdle muscle weakness | Skeletal muscle atrophy | Slowly progressive | Sporadic | Steppage gait | Tibialis muscle weakness | Weakness of long finger extensor muscles" ], "symptoms_ja_list": [ "Babinski サイン | Ragged-red 筋線維 | creatine phosphokinase の軽度上昇 | βアミロイドタンパクに免疫反応する沈着物 | アキレス腱反射欠損 | 下肢筋萎縮 | 下肢筋虚弱 | 反射低下 | 嚥下障害 | 大腿四頭筋 筋虚弱 | 孤発性 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 心筋症 | 手関節伸展制限 | 歩行障害 | 炎症性ミオパチー | 甲状腺機能低下症 | 筋痛 | 筋線維の異常 | 筋線維封入体 | 筋線維直径の多様性増加 | 筋萎縮 | 筋虚弱 | 筋電図: ミオトニア放電 | 筋電図: ミオパチー異常 | 筋電図異常 | 縁取り空胞 | 翼状肩甲骨 | 股関節屈曲筋虚弱 | 肩帯筋筋萎縮 | 肩帯筋虚弱 | 肩運動制限 | 脛骨筋虚弱 | 腱反射減少 | 自己免疫 | 血清 creatine phosphokinase上昇 | 足筋肉の異常 | 足背屈筋虚弱 | 近位筋虚弱 | 遠位下肢筋虚弱 | 遠位筋萎縮 | 遠位筋虚弱 | 長指伸展筋虚弱 | 顔面麻痺 | 食餌摂取障害 in infancy | 骨格筋脂肪浸潤 | 鶏歩" ] }, { "id": "NANDO:2200358", "label_en": "Glucocorticoid resistance", "label_ja": "グルココルチコイド抵抗症", "yomigana": "ぐるここるちこいどていこうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200358", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100128", "symptoms_en_list": [ "Acne | Adrenal hyperplasia | Ambiguous genitalia | Anxiety | Autosomal dominant inheritance | Decreased circulating aldosterone concentration | Fatigue | Female pseudohermaphroditism | Frontal balding | Hirsutism | Hypertension | Hypoglycemia | Hypokalemia | Increased circulating ACTH level | Increased circulating cortisol level | Increased urinary cortisol level | Infertility | Irregular menstruation | Metabolic alkalosis | Oligomenorrhea | Oligozoospermia | Precocious puberty | Stroke | Young adult onset" ], "symptoms_ja_list": [ "?瘡 | 不妊 | 不安 | 乏精子症 | 代謝性アルカローシス | 低アルドステロン症 | 低カリウム血症 | 低血糖 | 前頭部禿頭 | 副腎過形成 | 卒中 | 多毛 | 女性仮性半陰陽 | 尿中コルチゾール 値増加 | 希発月経 | 常染色体顕性遺伝 | 循環性ACTH 値増加 | 循環性コルチゾール 値増加 | 思春期早発 | 性別不明の外性器 | 月経不純 | 疲労 | 高血圧" ] }, { "id": "NANDO:1200904", "label_en": "Short-segment Hirschsprung's disease", "label_ja": "直腸下部型ヒルシュスプルング病", "yomigana": "ちょくちょうかぶがたひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200904", "notificationNumber": "291", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100119", "label_en": "Hyperthyroidism", "label_ja": "甲状腺機能亢進症", "yomigana": "こうじょうせんきのうこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100119", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201147", "label_en": "Presymptomatic trifunctional protein deficiency", "label_ja": "発症前型三頭酵素欠損症", "yomigana": "はっしょうまえがたさんとうこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201147", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Areflexia | Arrhythmia | Babinski sign | Cardiomyopathy | Cholestasis | Chronic hepatic failure | Coma | Congestive heart failure | Decreased patellar reflex | Difficulty climbing stairs | Diffuse hepatic steatosis | Distal peripheral sensory neuropathy | Equinovarus deformity | Equinus calcaneus | Exercise intolerance | Failure to thrive in infancy | Feeding difficulties in infancy | Frequent falls | Generalized muscle weakness | Hypocalcemia | Hypoketotic hypoglycemia | Hypoparathyroidism | Hypotonia | Left ventricular hypertrophy | Lethargy | Lower limb muscle weakness | Mitral regurgitation | Motor delay | Muscle spasm | Muscle weakness | Myalgia | Peripheral neuropathy | Pes cavus | Pigmentary retinopathy | Poor suck | Primitive reflex | Progressive distal muscle weakness | Respiratory failure | Respiratory insufficiency | Rhabdomyolysis | Seizure | Sensorimotor neuropathy | Skeletal myopathy | Tricuspid regurgitation" ], "symptoms_ja_list": [ "Babinski サイン | うっ血性心不全 | びまん性脂肪肝 | 三尖弁逆流 | 下肢筋虚弱 | 不整脈 | 乳児期の成長障害 (成長不全) | 低カルシウム血症 | 低ケトン性低血糖 | 僧帽弁逆流 | 全身性筋虚弱 | 内反尖足変形 | 凹足 | 副甲状腺機能低下症 | 原始反射 (掌頤", "口とがらせ", "眉間) | 吸啜不全 | 呼吸不全 | 左室肥大 | 心筋症 | 感覚運動ニューロパチー | 慢性肝不全 | 昏睡 | 末梢神経ニューロパチー | 横紋筋融解 | 無反射 | 無気力 | 発作 | 筋けいれん | 筋痛 | 筋緊張低下 | 筋虚弱 | 胆汁うっ滞 | 膝蓋腱反射減少 | 色素性網膜症 | 踵骨尖足 | 進行性遠位筋虚弱 | 運動不耐症 | 運動発達遅滞 | 遠位末梢感覚神経ニューロパチー | 階段の登り困難 | 頻回の転倒 | 食餌摂取障害 in infancy | 骨格筋ミオパチー" ] }, { "id": "NANDO:2201527", "label_en": "Rothmund-Thomson syndrome", "label_ja": "ロスムンド・トムソン症候群", "yomigana": "ろすむんど・とむそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201527", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal dental enamel morphology | Abnormal nail morphology | Abnormal trabecular bone morphology | Abnormality of blood and blood-forming tissues | Abnormality of the dentition | Abnormality of the skeletal system | Alopecia totalis | Anemia | Aplasia/Hypoplasia of the patella | Aplasia/Hypoplasia of the radius | Aplasia/Hypoplasia of the skin | Aplastic anemia | Basal cell carcinoma | Broad ulna | Calcinosis | Carious teeth | Decreased total neutrophil count | Delayed eruption of teeth | Diarrhea | Facial edema | Hypopigmentation of the skin | Hypoplasia of teeth | Hypoplasia of the ulna | Increased susceptibility to fractures | Infertility | Juvenile cataract | Leukemia | Melanoma | Microdontia | Myelodysplasia | Nail dysplasia | Nasogastric tube feeding in infancy | Neoplasm of the skin | Osteopenia | Palmar hyperkeratosis | Plantar hyperkeratosis | Poikiloderma | Porokeratosis | Reduced bone mineral density | Reticular hyperpigmentation | Selective tooth agenesis | Short stature | Short thumb | Skin rash | Small for gestational age | Small nail | Sparse eyelashes | Sparse hair | Squamous cell carcinoma | Supernumerary tooth | Telangiectasia of the skin | Vomiting" ], "symptoms_ja_list": [ "下痢 | 不妊 | 乳児期の鼻腔栄養 | 低身長 | 全禿頭 | 再生不良性貧血 | 嘔吐 | 在胎月齢より小さい児 | 基底細胞癌 | 多形皮膚萎縮症 (ポイキロデルマ) | 好中球減少症 | 小さい爪 | 小歯 | 尺骨低形成 | 幅広い尺骨 | 手掌過角化症 | 易骨折性の増加 | 橈骨無形成/低形成 | 歯の異常 | 歯エナメル質異常 | 歯低形成 | 歯数増加 | 歯萠出遅延 | 汗孔角化症 | 海綿骨形態異常 | 爪の異常 | 爪異形成 | 異常な皮膚水泡 | 疎な毛髪 | 疎な睫毛 | 白血病 | 皮膚低色素 | 皮膚新生物 | 皮膚毛細血管拡張 | 皮膚無形成/低形成 | 皮膚発疹 | 短い母指 | 石灰症 | 網状高色素 | 膝蓋骨無形成/低形成 | 若年性白内障 | 血液および血液痙性組織の異常 | 貧血 | 足底過角化症 | 選択的歯無発生 | 顔面浮腫 | 骨ミネラル濃度減少 | 骨格の異常 | 骨減少症 | 骨髄異形成 | 黒色腫 | 齲歯" ] }, { "id": "NANDO:2201405", "label_en": "PURA-related neurodevelopmental disorders", "label_ja": "PURA関連神経発達異常症", "yomigana": "ぴーゆーあーるえーかんれんしんけいはったついじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201405", "notificationNumber": "76", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200610", "label_en": "Congenital porphyria", "label_ja": "先天性ポルフィリン症", "yomigana": "せんてんせいぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200610", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100173", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200588", "label_en": "Xanthinuria", "label_ja": "キサンチン尿症", "yomigana": "きさんちんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200588", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100168", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200064", "label_en": "Infantile-onset Niemann-Pick disease type C", "label_ja": "乳児型ニーマン・ピック病C型", "yomigana": "にゅうじがたにーまん・ぴっくびょうしーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200064", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200380", "label_en": "Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of gonadotropin", "label_ja": "下垂体性ゴナドトロピン分泌亢進症", "yomigana": "かすいたいせいごなどとろぴんぶんぴつこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200380", "notificationNumber": "76", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200273", "label_en": "Dermatomyositis/Polymyositis", "label_ja": "皮膚筋炎／多発性筋炎", "yomigana": "ひふきんえん／たはつせいきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200273", "notificationNumber": "50", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100279", "label_en": "Chromosome abnormality", "label_ja": "染色体または遺伝子に変化を伴う症候群", "yomigana": "せんしょくたいまたはいでんしにへんかをともなうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100279", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200670", "label_en": "Abnormalities in platelet collagen receptors", "label_ja": "コラーゲン受容体異常症", "yomigana": "こらーげんじゅようたいいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200670", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [ "Abnormal platelet count | Autosomal recessive inheritance | Bruising susceptibility | Epistaxis | Impaired collagen-induced platelet aggregation | Impaired ristocetin-induced platelet aggregation | Infantile onset | Menorrhagia | Prolonged bleeding time" ], "symptoms_ja_list": [ "コラーゲン誘発性血小板凝集障害 | リストセチン誘発性血小板凝集障害 | 出血傾向 | 常染色体潜性遺伝 | 月経痛 | 血小板数の異常 | 遷出血時間遷延 | 鼻出血" ] }, { "id": "NANDO:2100069", "label_en": "Stenosis or atresia of coronary artery (not caused by Kawasaki disease)", "label_ja": "冠動脈狭窄症（川崎病によるものを除く。）", "yomigana": "かんどうみゃくきょうさくしょう（かわさきびょうによるものをのぞく。）", "url": "http://nanbyodata.jp/ontology/NANDO_2100069", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100200", "label_en": "Myelofibrosis", "label_ja": "骨髄線維症", "yomigana": "こつずいせんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100200", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200886", "label_en": "Congenital dyserythropoietic anemia type I", "label_ja": "先天性赤血球形成異常性貧血 Type I", "yomigana": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ たいぷ1", "url": "http://nanbyodata.jp/ontology/NANDO_1200886", "notificationNumber": "282", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200851", "label_en": "Cerebral arteriovenous malformation", "label_ja": "脳動静脈奇形", "yomigana": "のうどうじょうみゃくきけい", "url": "http://nanbyodata.jp/ontology/NANDO_2200851", "notificationNumber": "94", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100229", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Cerebral arteriovenous malformation | Cerebral hemorrhage | Cognitive impairment | Headache | Memory impairment | Peripheral arteriovenous fistula | Seizure | Typified by somatic mosaicism | Visceral angiomatosis | Visual impairment" ], "symptoms_ja_list": [ "体細胞モザイク | 内臓血管腫症 | 大脳出血 | 大脳動静脈奇形 | 大脳血管の異常 | 末梢動静脈瘻 | 発作 | 視力障害 | 記憶障害 | 認知障害 | 頭痛" ] }, { "id": "NANDO:0000003", "label_en": "Disease groups for genetic testing", "label_ja": "遺伝検査用疾患群", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_0000003", "notificationNumber": "", "obsolete": 1, "category": "other", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200325", "label_en": "Purine nucleoside phosphorylase deficiency", "label_ja": "プリンヌクレオシドホスホリラーゼ欠損症", "yomigana": "ぷりんぬくれおしどほすほりらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200325", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal B cell physiology | Abnormal T cell morphology | Abnormal T cell physiology | Abnormal central motor function | Abnormality of the nervous system | Ataxia | Atypical behavior | Autoimmune hemolytic anemia | Autoimmune neutropenia | Autoimmune thrombocytopenia | Autoimmunity | Autosomal recessive inheritance | Cerebral palsy | Cerebral vasculitis | Decreased total T cell count | Decreased total lymphocyte count | Decreased urinary urate | Delayed gross motor development | Failure to thrive | Generalized hypotonia | Global developmental delay | Humoral immunodeficiency | Hyperactivity | Hypertonia | Hypotonia | Hypouricemia | Infantile onset | Intellectual disability | Lymph node hypoplasia | Lymphoma | Motor delay | Neoplasm | Otitis media | Pneumonia | Pure red cell aplasia | Recurrent bacterial infections | Recurrent infections | Recurrent lower respiratory tract infections | Recurrent opportunistic infections | Recurrent respiratory infections | Recurrent upper respiratory tract infections | Recurrent urinary tract infections | Recurrent viral infections | Sensorineural hearing impairment | Severe combined immunodeficiency | Sinusitis | Spastic diplegia | Spastic paraparesis | Spasticity | Splenomegaly | Stroke | Systemic lupus erythematosus | Tetraparesis | Tremor" ], "symptoms_ja_list": [ "B 細胞生理の異常 | T リンパ球減少症 | T 細胞の異常 | T 細胞生理の異常 | リンパ球減少症 | リンパ節低形成 | リンパ腫 | 中枢性運動機能の異常 | 中耳炎 | 低尿酸血症 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性紅斑性狼瘡 | 副鼻腔炎 | 卒中 | 反復性ウイルス感染症 | 反復性上気道感染症 | 反復性下気道感染症 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性感染症 | 反復性日和見感染症 | 反復性細菌感染症 | 四肢不全麻痺 | 多動 | 大脳血管炎 | 尿中尿酸減少 | 常染色体潜性遺伝 | 感音難聴 | 成長障害 (成長不全) | 振戦 | 新生物 | 痙性 | 痙性両麻痺 | 痙性対不全麻痺 | 知的障害 | 神経系の異常 | 筋緊張亢進 | 筋緊張低下 | 粗大運動発達遅延 | 純粋赤血球無形成 | 肺炎 | 脳性麻痺 | 脾腫 | 自己免疫 | 自己免疫性好中球減少症 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 行動異常 | 運動失調 | 運動発達遅滞 | 部分的駅制免疫不全 | 重症複合型免疫不全" ] }, { "id": "NANDO:2200231", "label_en": "Non-compaction of the ventricle", "label_ja": "心筋緻密化障害", "yomigana": "しんきんちみつかしょうがい", "url": "http://nanbyodata.jp/ontology/NANDO_2200231", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100056", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200677", "label_en": "Hemophilia B", "label_ja": "血友病Ｂ", "yomigana": "けつゆうびょうびー", "url": "http://nanbyodata.jp/ontology/NANDO_2200677", "notificationNumber": "30", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Bruising susceptibility | Cephalohematoma | Epistaxis | Gastrointestinal hemorrhage | Hematemesis | Hematuria | Intracranial hemorrhage | Intramuscular hematoma | Joint hemorrhage | Melena | Osteoarthritis | Persistent bleeding after trauma | Petechiae | Poor wound healing | Prolonged bleeding after dental extraction | Prolonged bleeding after surgery | Prolonged bleeding time | Prolonged partial thromboplastin time | Prolonged prothrombin time | Prolonged whole-blood clotting time | Reduced factor IX activity | Spontaneous", "recurrent epistaxis | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | プロトロンビン時間遷延 | 下血 | 傷治癒不全 | 全血凝固時間遷延 | 出血傾向 | 吐血 | 外傷後の持続性出血 | 抜歯後の遷延性出血 | 点状出血 | 産瘤 | 第 IX 因子活性の減少 | 筋内血腫 | 胃腸出血 | 自然反復性鼻出血 | 血尿 | 術後の遷延性出血 | 遷出血時間遷延 | 部分的トロンボプラスチン時間遷延 | 関節出血 | 頭蓋内出血 | 骨関節炎 | 鼻出血" ] }, { "id": "NANDO:1200744", "label_en": "Osler disease", "label_ja": "オスラー病", "yomigana": "おすらーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200744", "notificationNumber": "227", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cardiovascular system physiology | Abnormal cerebral vascular morphology | Anemia | Arteriovenous malformation | Cerebral arteriovenous malformation | Cerebral hemorrhage | Cirrhosis | Congestive heart failure | Conjunctival telangiectasia | Epistaxis | Esophageal varix | Gastrointestinal arteriovenous malformation | Gastrointestinal hemorrhage | Hemoptysis | Hepatic arteriovenous malformation | Hepatic failure | Intestinal polyposis | Lip telangiectasia | Migraine | Mucosal telangiectasiae | Nasal mucosa telangiectasia | Peripheral arteriovenous fistula | Portal hypertension | Pulmonary arterial hypertension | Pulmonary arteriovenous malformation | Pulmonary embolism | Retinal telangiectasia | Seizure | Spontaneous", "recurrent epistaxis | Subarachnoid hemorrhage | Telangiectasia | Telangiectasia of the skin | Tongue telangiectasia | Transient ischemic attack | Venous thrombosis | Visceral angiomatosis" ], "symptoms_ja_list": [ "うっ血性心不全 | クモ膜下出血 | 一過性虚血発作 | 偏頭痛 | 内臓血管腫症 | 動静脈奇形 | 口唇毛細血管拡張 | 喀血 | 大脳出血 | 大脳動静脈奇形 | 大脳血管の異常 | 心血管系生理の異常 | 末梢動静脈瘻 | 毛細血管拡張 | 発作 | 皮膚毛細血管拡張 | 粘膜の毛細血管拡張 | 結膜毛細血管拡張 | 網膜毛細血管拡張 | 肝不全 | 肝動静脈奇形 | 肝硬変 | 肺動静脈奇形 | 肺塞栓症 | 肺高血圧 | 胃腸出血 | 胃腸動静脈奇形 | 腸ポリープ症 | 自然反復性鼻出血 | 舌毛細血管拡張 | 貧血 | 門脈圧亢進 | 静脈血栓症 | 食道静脈瘤 | 鼻出血 | 鼻粘膜毛細血管拡張" ] }, { "id": "NANDO:1200125", "label_en": "Mucolipidosis III", "label_ja": "ムコリピドーシスIII型", "yomigana": "むこりぴどーしす3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200125", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal wall muscle weakness | Abnormal cardiovascular system morphology | Abnormal hip bone morphology | Abnormal vertebral body morphology | Aortic regurgitation | Autosomal recessive inheritance | Bone pain | Broad ribs | Bullet-shaped distal phalanges of the hand | C1-C2 subluxation | Cardiomyopathy | Carpal bone hypoplasia | Childhood onset | Chronic pain | Coarse facial features | Cognitive impairment | Conductive hearing impairment | Congestive heart failure | Constrictive median neuropathy | Corneal opacity | Craniofacial hyperostosis | Craniosynostosis | Deficiency of N-acetylglucosamine-1-phosphotransferase | Depressed nasal bridge | Diastasis recti | Dysostosis multiplex | Elevated circulating beta-hexosaminidase activity | Epicanthus | Failure to thrive | Fatigue | Flexion contracture | Full cheeks | Gait disturbance | Genu valgum | Gingival overgrowth | Global developmental delay | Hepatomegaly | Hip dysplasia | Hoarse voice | Hyperlordosis | Hyperopic astigmatism | Hypertonia | Hypoplastic inferior ilia | Increased iduronate sulfatase level | Infantile onset | Inguinal hernia | Intellectual disability | Irregular carpal bones | J-shaped sella turcica | Joint stiffness | Juvenile onset | Keratan sulfate excretion in urine | Knee flexion contracture | Kyphoscoliosis | Kyphosis | Large iliac wing | Limitation of joint mobility | Loss of ambulation | Low-set ears | Lumbar hemivertebrae | Mandibular prognathia | Microcephaly | Mitral regurgitation | Mitral valve prolapse | Motor polyneuropathy | Mucopolysacchariduria | Oligosacchariduria | Opacification of the corneal stroma | Osteoarthritis | Osteolysis | Osteopenia | Pectus carinatum | Plagiocephaly | Postnatal growth retardation | Prominent occiput | Proptosis | Recurrent otitis media | Recurrent upper respiratory tract infections | Reduced bone mineral density | Restrictive ventilatory defect | Retinal degeneration | Retinopathy | Right ventricular hypertrophy | Scoliosis | Sensorineural hearing impairment | Sensory neuropathy | Severely reduced left ventricular ejection fraction | Shallow acetabular fossae | Short long bone | Short neck | Short ribs | Short stature | Small for gestational age | Soft tissue swelling of interphalangeal joints | Specific learning disability | Spinal cord compression | Splenomegaly | Spondylolisthesis | Thick vermilion border | Thickened skin | Trigonocephaly | Umbilical hernia | Visual impairment | Waddling gait | Young adult onset" ], "symptoms_ja_list": [ "C1-C2 亜脱臼 | J字型トルコ鞍 | N-acetylglucosamine-1-phosphotransferase 欠乏症 | うっ血性心不全 | はと胸 | よたつき歩行 | オリゴ糖尿 | ムコ多糖症 | 三角頭蓋 | 下顎突出 | 不規則な手根骨 | 伝音難聴 | 低身長 | 側弯 | 僧帽弁逆流 | 僧帽弁逸脱 | 全般性発達遅滞 | 内眼角贅皮 | 分厚い唇紅部縁 | 分厚い皮膚 | 前弯 | 反復性上気道感染症 | 反復性中耳炎 | 収縮性正中神経ニューロパチー | 右室肥大 | 嗄声 | 在胎月齢より小さい児 | 外反膝 | 多発性異骨症 | 大きな腸骨翼 | 大きな頬 | 大動脈逆流 | 寛骨の異常 | 小頭 | 尿中硫酸ケラタン排泄 | 屈曲拘縮 | 常染色体潜性遺伝 | 幅広い肋骨 | 弾丸型の手の末節骨 | 後側弯 | 後弯 | 循環器系の形態異常 | 心筋症 | 感覚ニューロパチー | 感音難聴 | 慢性疼痛 | 成長障害 (成長不全) | 手根骨低形成 | 拘束性肺疾患 | 指間 (IP)関節の軟部組織腫脹 | 斜頭 | 椎体骨形態異常 | 歩行障害 | 歯肉過成長 | 浅い寛骨臼窩 | 特異的学習障害 | 生後の成長遅滞 | 疲労 | 目立つ後頭 | 眼球突出 | 知的障害 | 短い肋骨 | 短い長管骨 | 短い頸部 | 筋緊張亢進 | 粗な顔貌 | 網膜変性 | 網膜症 | 耳介低位 | 肝腫 | 股関節異形成 | 脊椎すべり症 | 脊髄圧迫 | 脾腫 | 腰椎半脊椎 | 腸骨下部低形成 | 腹直筋離開 | 腹筋虚弱 | 膝屈曲拘縮 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 血清 beta-hexosaminidase の増加 | 血清 iduronate sulfatase 活性の増加 | 視力障害 | 角膜混濁 | 角膜間質混濁形成 | 認知障害 | 進行性歩行不安定 | 運動性ポリニューロパチー | 遠視性乱視 | 関節拘縮 | 関節運動制限 | 頭蓋合骨症 | 頭蓋顔面過骨症 | 駆出分画の重度の減少 | 骨ミネラル濃度減少 | 骨減少症 | 骨痛 | 骨融解 | 骨関節炎 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200355", "label_en": "Isolated ACTH deficiency", "label_ja": "副腎皮質刺激ホルモン単独欠損症", "yomigana": "ふくじんひしつしげきほるもんたんどくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200355", "notificationNumber": "83", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100128", "symptoms_en_list": [ "Abdominal pain | Adrenocorticotropic hormone deficiency | Adrenocorticotropin deficient adrenal insufficiency | Anorexia | Arthralgia | Autoimmunity | Celiac disease | Constipation | Decreased circulating ACTH concentration | Decreased circulating cortisol level | Diarrhea | Dry skin | Failure to thrive | Fatigue | Generalized bone demineralization | Graves disease | Hashimoto thyroiditis | Hepatitis | Hypercalcemia | Hyperkalemia | Hyperuricemia | Hypoglycemia | Hyponatremia | Hypoparathyroidism | Hypotension | Increased total eosinophil count | Lethargy | Low-grade fever | Macrocytic anemia | Muscle weakness | Nausea and vomiting | Normocytic anemia | Orthostatic hypotension | Pituitary adenoma | Premature ovarian insufficiency | Seizure | Sepsis | Type I diabetes mellitus | Vertigo | Vitiligo | Weight loss" ], "symptoms_ja_list": [ "Graves 病 | I 型糖尿病 | セリアック秒 | 下垂体腺腫 | 下痢 | 乾いた皮膚 | 低ナトリウム血症 | 低血圧 | 低血糖 | 体重喪失 | 便秘 | 全身性骨脱ミネラル化 | 副甲状腺機能低下症 | 副腎皮質刺激ホルモン(ACTH) 欠乏性副腎不全 | 副腎皮質刺激ホルモン欠乏症 | 吐気と 嘔吐 | 大球性貧血 | 好酸球増多症 | 循環性ACTH 値減少 | 循環性コルチゾール値減少 | 微熱 | 成長障害 (成長不全) | 敗血症 | 早発性卵巣不全 | 橋本甲状腺炎 | 正球性貧血 | 無気力 | 疲労 | 発作 | 白斑 | 眩暈 | 筋虚弱 | 肝炎 | 腹痛 | 自己免疫 | 起立性低血圧 | 関節痛 | 食思不振 | 高カリウム血症 | 高カルシウム血症 | 高尿酸血症" ] }, { "id": "NANDO:1200468", "label_en": "Chronic infantile neurological cutaneous articular syndrome", "label_ja": "慢性乳児神経皮膚関節症候群", "yomigana": "まんせいにゅうじしんけいひふかんせつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200468", "notificationNumber": "106", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal granulocyte morphology | Abnormal joint morphology | Abnormality of neutrophils | Abnormality of thrombocytes | Anemia | Arthralgia | Arthritis | Autosomal dominant inheritance | Blindness | Brachydactyly | Childhood onset | Delayed closure of the anterior fontanelle | EEG abnormality | Edema | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Fatigue | Fever | Frontal bossing | Global developmental delay | Growth delay | Hearing impairment | Hepatomegaly | Hepatosplenomegaly | Increased intracranial pressure | Increased total eosinophil count | Increased total leukocyte count | Infantile onset | Inflammatory abnormality of the eye | Intellectual disability | Joint dislocation | Lymphadenopathy | Lymphedema | Macrocephaly | Meningitis | Migraine | Myalgia | Nausea and vomiting | Neonatal onset | Papilledema | Papule | Premature birth | Progressive sensorineural hearing impairment | Proptosis | Pseudopapilledema | Purpura | Recurrent fever | Reduced bone mineral density | Retrobulbar optic neuritis | Seizure | Sensorineural hearing impairment | Skeletal dysplasia | Skin rash | Splenomegaly | Urticaria | Uveitis | Visual impairment" ], "symptoms_ja_list": [ "CRP 上昇 | ブドウ膜炎 | リンパ性浮腫 | リンパ節腫大 | 丘疹 | 乳頭浮腫 | 偏頭痛 | 偽乳頭浮腫 | 全般性発達遅滞 | 前頭突出", "額突出 | 吐気と 嘔吐 | 大泉門閉鎖遅延 | 大頭 | 好中球の異常 | 好酸球増多症 | 常染色体顕性遺伝 | 感音難聴 | 成長遅滞 | 早産 | 浮腫 | 疲労 | 発作 | 発熱 | 発熱エピソード | 白血球増多症 | 皮膚発疹 | 盲 | 眼の炎症性異常 | 眼球後部視神経炎 | 眼球突出 | 知的障害 | 短指症候群 | 筋痛 | 紫斑 | 肝脾腫 | 肝腫 | 脳波異常 | 脾腫 | 蕁麻疹 | 血小板の異常 | 視力障害 | 貧血 | 赤沈値上昇 | 進行性感音難聴 | 関節形態異常 | 関節炎 | 関節痛 | 関節脱臼 | 難聴 | 頭蓋内圧の増加 | 顆粒球の異常 | 骨ミネラル濃度減少 | 骨格異形成 | 髄膜炎" ] }, { "id": "NANDO:1201076", "label_en": "Pseudohypoparathyroidism type 1B", "label_ja": "偽性副甲状腺機能低下症Ib型", "yomigana": "ぎせいふくこうじょうせんきのうていかしょう1びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201076", "notificationNumber": "236", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abdominal symptom | Anxiety | Autosomal dominant inheritance | Brachydactyly | Calcinosis | Cataract | Chest pain | Conjunctivitis | Cortical subperiosteal resorption of humeral metaphyses | Decreased response to growth hormone stimulation test | Delayed eruption of teeth | Depressed nasal bridge | Depression | Diaphyseal sclerosis | Dyskinesia | Dyspnea | Ectopic calcification | Elevated circulating parathyroid hormone level | Enamel hypoplasia | Full cheeks | Hyperphosphatemia | Hypocalcemia | Hypocalcemic seizures | Hypocalcemic tetany | Hyporeflexia | Increased bone density with cystic changes | Increased bone mineral density | Irritability | Laryngeal dystonia | Low urinary cyclic AMP response to PTH administration | Muscle spasm | Myoclonic spasms | Nystagmus | Obesity | Paresthesia | Pituitary resistance to thyroid hormone | Prolonged QT interval | Pseudohypoparathyroidism | Round face | Short metacarpal | Short neck | Short stature | Sporadic" ], "symptoms_ja_list": [ "PTH 投与への尿中 cyclic AMP反応の低下 | うつ | ジスキネジア | ミオクローヌス性スパスム | 不安 | 丸い顔 | 低カルシウム血症 | 低カルシウム血症性テタニー | 低カルシウム血症性発作 | 低身長 | 偽性副甲状腺機能低下症 | 共通 | 反射低下 | 呼吸困難 | 喉頭ジストニア | 嚢胞変化を伴う骨濃度の増加 | 大きな頬 | 孤発性 | 常染色体顕性遺伝 | 循環性副甲状腺ホルモン(PTH) 値上昇 | 感覚異常 | 成長ホルモン欠乏症 | 歯エナメル質低形成 | 歯萠出遅延 | 甲状腺ホルモンへの下垂体抵抗性 | 異所性石灰化 | 白内障 | 皮質骨膜下吸収 (上腕骨骨幹端) | 眼振 | 短い中手骨 | 短い頸部 | 短指症候群 | 石灰症 | 筋けいれん | 結膜炎 | 肥満 | 腹部症状 | 落ちくぼんだ鼻梁 | 被刺激性 | 遷延性 QT 間隔 | 骨ミネラル濃度の増加 | 骨幹硬化 | 高リン血漿" ] }, { "id": "NANDO:1200989", "label_en": "Methylglutaconic aciduria", "label_ja": "メチルグルタコン酸尿症", "yomigana": "めちるぐるたこんさんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200989", "notificationNumber": "324", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201138", "label_en": "Late-onset carnitine-acylcarnitine translocase deficiency", "label_ja": "遅発型カルニチンアシルカルニチントランスロカーゼ欠損症", "yomigana": "ちはつがたかるにちんあしるかるにちんとらんすろかーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201138", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200499", "label_en": "Succinyl-CoA:3-ketoacid CoA transferase deficiency", "label_ja": "スクシニル-CoA：3-ケト酸CoAトランスフェラーゼ欠損症", "yomigana": "すくしにるこえー：3けとさんこえーとらんすふぇらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200499", "notificationNumber": "100", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Autosomal recessive inheritance | Cardiomegaly | Coma | Decreased body weight | Dehydration | Episodic ketoacidosis | Failure to thrive in infancy | Hypotonia | Ketoacidosis | Ketonuria | Lethargy | Nausea | Neonatal onset | Tachypnea | Vomiting" ], "symptoms_ja_list": [ "ケトアシドーシス | ケトアシドーシスエピソード | ケトン尿 | 乳児期の成長障害 (成長不全) | 体重減少 | 吐気 | 嘔吐 | 多呼吸 | 常染色体潜性遺伝 | 心拡大 | 昏睡 | 無気力 | 筋緊張低下 | 脱水" ] }, { "id": "NANDO:2200752", "label_en": "P14 deficiency", "label_ja": "P14欠損症", "yomigana": "ぴー14けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200752", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Autosomal recessive inheritance | Coarse facial features | Decreased circulating IgM concentration | Decreased total neutrophil count | Hypopigmentation of hair | Hypopigmentation of the skin | Immunodeficiency | Partial albinism | Recurrent bronchopulmonary infections | Short stature" ], "symptoms_ja_list": [ "IgM欠乏症 | 低身長 | 免疫不全 | 反復性気管支肺感染症 | 好中球減少症 | 常染色体潜性遺伝 | 毛髪低色素 | 皮膚低色素 | 粗な顔貌 | 部分白皮症" ] }, { "id": "NANDO:2200946", "label_en": "Chronic idiopathic intestinal pseudo-obstruction", "label_ja": "慢性特発性偽性腸閉塞症", "yomigana": "まんせいとくはつせいぎせいちょうへいそくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200946", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100275", "symptoms_en_list": [ "Abnormal intestine morphology | Abnormal nervous system morphology | Abnormal platelet morphology | Intestinal malrotation | Patent ductus arteriosus | Pyloric stenosis" ], "symptoms_ja_list": [ "動脈管開存症 | 幽門狭窄 | 神経系形態の異常 | 腸の異常 | 腸回転異常 | 血小板形態の異常" ] }, { "id": "NANDO:2200916", "label_en": "Juvenile polyposis", "label_ja": "若年性ポリポーシス", "yomigana": "じゃくねんせいぽりぽーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200916", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100257", "symptoms_en_list": [ "Abdominal pain | Abnormal facial shape | Anasarca | Anemia | Arteriovenous malformation | Autosomal dominant inheritance | Cerebral arteriovenous malformation | Chronic fatigue | Clubbing | Clubbing of fingers | Colon cancer | Depressed nasal bridge | Diarrhea | Downslanted palpebral fissures | Edema | Epistaxis | Extrahepatic portal hypertension | Failure to thrive | Gastrointestinal hemorrhage | Growth delay | Hamartomatous polyposis | Hamartomatous stomach polyps | Hemangioblastoma | Hematochezia | Hepatic arteriovenous malformation | Hypertelorism | Hypoalbuminemia | Hypokalemia | Hypoproteinemia | Intestinal polyp | Intussusception | Juvenile colonic polyposis | Juvenile gastrointestinal polyposis | Large forehead | Low-set ears | Macrocephaly | Mild intellectual disability | Mucosal telangiectasiae | Multiple gastric polyps | Multiple lipomas | Narrow mouth | Neoplasm of the gastrointestinal tract | Neoplasm of the pancreas | Neoplasm of the small intestine | Neoplasm of the stomach | Protein-losing enteropathy | Pulmonary arterial hypertension | Pulmonary arteriovenous malformation | Rectal polyposis | Rectal prolapse | Rectocele | Short chin | Spontaneous", "recurrent epistaxis | Stomach cancer | Transient ischemic attack | Visceral angiomatosis" ], "symptoms_ja_list": [ "ばち指 | ばち状化 | タンパク漏出性腸症 | 一過性虚血発作 | 下痢 | 両眼隔離 | 低カリウム血症 | 低タンパク血症 | 全身性浮腫 | 内臓血管腫症 | 動静脈奇形 | 多発性胃ポリープ | 多発性脂肪腫 | 大きな額 | 大脳動静脈奇形 | 大頭 | 小腸新生物 | 常染色体顕性遺伝 | 慢性疲労 | 成長遅滞 | 成長障害 (成長不全) | 浮腫 | 狭い口 | 異常な顔の形 | 直腸ポリープ症 | 直腸瘤 | 直腸逸脱 | 眼瞼裂斜下 | 知的障害", "軽度 | 短い下顎 | 粘膜の毛細血管拡張 | 結腸癌 | 耳介低位 | 肝動静脈奇形 | 肝外門脈圧亢進 | 肺動静脈奇形 | 肺高血圧 | 胃新生物 | 胃癌 | 胃腸出血 | 胃腸管新生物 | 腸ポリープ | 腸重積 | 腹痛 | 膵新生物 | 自然反復性鼻出血 | 若年性結腸ポリープ症 | 若年性胃腸ポリープ症 | 落ちくぼんだ鼻梁 | 血便排泄 | 血管芽腫 | 貧血 | 過誤腫ポリープ | 過誤腫胃ポリープ | 高アルブミン血症 | 鼻出血" ] }, { "id": "NANDO:1200192", "label_en": "Environmentally acquired Creutzfeldt-Jakob disease", "label_ja": "獲得性クロイツフェルト・ヤコブ病", "yomigana": "かくとくせいくろいつふぇると・やこぶびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200192", "notificationNumber": "23", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100129", "label_en": "Aldosteronism", "label_ja": "アルドステロン症", "yomigana": "あるどすてろんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100129", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200116", "label_en": "Sialidosis", "label_ja": "シアリドーシス", "yomigana": "しありどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200116", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201305", "label_en": "Non-syndromic metopic craniosynostosis", "label_ja": "非症候性頭蓋骨縫合早期癒合症（前頭縫合）", "yomigana": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう（ぜんとうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201305", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [ "Delayed speech and language development | Highly arched eyebrow | Hypotelorism | Increased intracranial pressure | Metopic synostosis | Narrow forehead | Omphalocele | Papilledema | Prominent supraorbital ridges | Synophrys | Trigonocephaly | Wide nasal bridge" ], "symptoms_ja_list": [ "三角頭蓋 | 両眼接近 | 乳頭浮腫 | 人字縫合早期癒合 | 幅広い鼻梁 | 狭い額 | 発語および言語発達遅延 | 目立つ眼窩上縁 | 臍帯ヘルニア | 連続眉毛 | 頭蓋内圧の増加 | 高位の弓形眉毛" ] }, { "id": "NANDO:2100041", "label_en": "Congenital cystic lung disease", "label_ja": "先天性囊胞性肺疾患", "yomigana": "せんてんせいのうほうせいはいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100041", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200856", "label_en": "Cerebrotendinous xanthomatosis", "label_ja": "脳腱黄色腫症", "yomigana": "のうけんおうしょくしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200856", "notificationNumber": "263", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal Achilles tendon morphology | Abnormal atrial septum morphology | Abnormal auditory evoked potentials | Abnormal cerebellar peduncle morphology | Abnormal cerebellum morphology | Abnormal circulating cholesterol concentration | Abnormal circulating enzyme concentration or activity | Abnormal dentate nucleus morphology | Abnormal eyelid morphology | Abnormal femur morphology | Abnormal finger morphology | Abnormal globus pallidus morphology | Abnormal lung morphology | Abnormal motor evoked potentials | Abnormal periventricular white matter morphology | Abnormal pyramidal sign | Abnormal retinal vascular morphology | Abnormal tibia morphology | Abnormality of extrapyramidal motor function | Abnormality of somatosensory evoked potentials | Abnormality of the elbow | Abnormality of the hand | Abnormality of the neck | Abnormality of the plantar skin of foot | Abnormality of the vertebral spinous processes | Abnormality of visual evoked potentials | Aggressive behavior | Agitation | Angina pectoris | Ankle clonus | Ataxia | Attention deficit hyperactivity disorder | Atypical behavior | Autism | Autosomal recessive inheritance | Babinski sign | CNS demyelination | Cataract | Cerebellar atrophy | Cerebral atrophy | Cholelithiasis | Chronic diarrhea | Cognitive impairment | Decreased nerve conduction velocity | Delayed somatosensory central conduction time | Delusion | Dementia | Depression | Diarrhea | Distal amyotrophy | Dysarthria | Dystonia | EEG with generalized slow activity | EMG: axonal abnormality | Elevated brain choline level by MRS | Elevated brain lactate level by MRS | Gait disturbance | Gliosis | Global brain atrophy | Hallucinations | Hypermyelinated retinal nerve fibers | Hyperreflexia | Hypothyroidism | Increased circulating lactate concentration | Increased susceptibility to fractures | Intellectual disability | Juvenile cataract | Long-tract sign | Lower limb muscle weakness | Mitochondrial respiratory chain defects | Myelopathy | Myocardial infarction | Neurodevelopmental delay | Nystagmus | Optic atrophy | Optic disc pallor | Optic neuropathy | Orofacial dyskinesia | Osteopenia | Osteoporosis | Palatal tremor | Paraparesis | Parkinsonism | Peripheral neuropathy | Personality disorder | Pes cavus | Precocious atherosclerosis | Premature coronary artery atherosclerosis | Premature loss of teeth | Prematurely aged appearance | Progressive psychomotor deterioration | Prolonged neonatal jaundice | Proptosis | Pseudobulbar paralysis | Respiratory insufficiency | Resting tremor | Seizure | Short attention span | Somatic sensory dysfunction | Spastic paraparesis | Spasticity | Specific learning disability | Tendon xanthomatosis | Thoracic kyphosis | Visual impairment | Xanthelasma | Xanthomatosis" ], "symptoms_ja_list": [ "Achilles 腱の異常 | Babinski サイン | Dementia | MRSによる脳コリン値上昇 | MRSによる脳尿酸値上昇 | うつ | コレステロール代謝の異常 | ジストニア | パーキンソン症候群 | ミエロパチー | ミトコンドリア呼吸鎖障害 | 下痢 | 下肢筋虚弱 | 不全対麻痺 | 不穏 | 中枢性身体感覚誘発電位の異常 | 中枢神経脱髄 | 偽性球麻痺 | 全般性徐活動を伴う脳波 | 全般性脳萎縮 | 凹足 | 反射亢進 | 口蓋ミオクローヌス | 口顔面ジスキネジア | 呼吸不全 | 大脳萎縮 | 大腿骨の異常 | 妄想 | 安静時振戦 | 小脳の異常 | 小脳脚の異常 | 小脳萎縮 | 常染色体潜性遺伝 | 幻覚 | 心房中隔の異常 | 心筋梗塞 | 性格異常 | 感覚障害 | 慢性下痢 | 手の異常 | 指の異常 | 攻撃的行動 | 早発性冠動脈疾患 | 早発性動脈硬化症 | 早発性歯喪失 | 早老外観 | 易骨折性の増加 | 末梢神経ニューロパチー | 構音障害 | 歩行障害 | 歯状核の異常 | 注意力欠陥多動性疾患 | 淡蒼球の異常 | 特異的学習障害 | 狭心症 | 甲状腺機能低下症 | 異常な聴性誘発反応 | 異常な運動誘発電位 | 痙性 | 痙性対不全麻痺 | 発作 | 白内障 | 眼振 | 眼球突出 | 眼瞼の異常 | 知的障害 | 短い注意期間 | 神経活動電位の振幅減少 | 神経発生遅延 | 神経膠症 | 筋電図: 軸索異常 | 網膜血管の異常 | 肘異常 | 肺の異常 | 胆石症 | 胸部後弯 | 脊椎棘突起の異常 | 脛骨の異常 | 脳室周囲白質の異常 | 腱黄色腫症 | 自閉症 | 若年性白内障 | 血清乳酸増加 | 行動異常 | 視力障害 | 視神経ニューロパチー | 視神経杯蒼白 | 視神経萎縮 | 視覚誘発電位の異常 | 認知障害 | 足クローヌス | 足底皮膚の異常 | 身体感覚誘発電位の異常 | 進行性精神運動発達悪化 | 運動失調 | 遠位筋萎縮 | 遷延性新生児黄疸 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 長路サイン | 頸部の異常 | 骨減少症 | 骨粗鬆症 | 髄鞘化過剰な網膜線維 | 高度/補酵素活性異常 | 黄色板症 | 黄色腫症" ] }, { "id": "NANDO:1200773", "label_en": "Primary hyperoxaluria type 1", "label_ja": "原発性高シュウ酸尿症I型", "yomigana": "げんぱつせいこうしゅうさんにょうしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200773", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating enzyme concentration | Abnormality of metabolism/homeostasis | Abnormality of the dentition | Abnormality of the skeletal system | Acrocyanosis | Anemia | Atherosclerosis | Atrioventricular block | Autosomal recessive inheritance | Bone pain | Calcinosis | Calcium oxalate nephrolithiasis | Choroidal neovascularization | Cutis marmorata | Decreased glomerular filtration rate | Dehydration | Dysuria | Enuresis | Failure to thrive | Gangrene | Hematuria | Hyperoxaluria | Increased bone mineral density | Infantile onset | Intermittent claudication | Kidney stone | Metabolic acidosis | Nephrocalcinosis | Optic atrophy | Optic neuropathy | Pathologic fracture | Peripheral arterial stenosis | Peripheral neuropathy | Recurrent urinary tract infections | Renal insufficiency | Retinopathy | Stage 5 chronic kidney disease | Stroke" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | 代謝/ホメオスターシスの異常 | 代謝性アシドーシス | 動脈硬化症 | 卒中 | 反復性尿路感染症 | 壊疽 | 大理石皮膚 | 常染色体潜性遺伝 | 循環性酵素値の異常 | 成長障害 (成長不全) | 房室ブロック | 排尿障害 | 末梢動脈疾患 | 末梢神経ニューロパチー | 歯の異常 | 病的骨折 | 石灰症 | 糸球体濾過率減少 | 網膜症 | 肢端チアノーゼ | 脱水 | 腎不全 | 腎石灰化症 | 腎結石 | 蓚酸カルシウム腎結石 | 血尿 | 視神経ニューロパチー | 視神経萎縮 | 貧血 | 遺尿 | 間歇的跛行 | 骨ミネラル濃度の増加 | 骨格の異常 | 骨痛 | 高蓚酸尿 | 黄斑の脈絡膜血管新生" ] }, { "id": "NANDO:1200369", "label_en": "Autosomal recessive polycystic kidney disease", "label_ja": "常染色体劣性多発性嚢胞腎", "yomigana": "じょうせんしょくたいれっせいたはつせいのうほうじん", "url": "http://nanbyodata.jp/ontology/NANDO_1200369", "notificationNumber": "67", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Abnormal intrahepatic bile duct morphology | Acute kidney injury | Ascites | Biliary hyperplasia | Cholestasis | Cognitive impairment | Congenital hepatic fibrosis | Decreased circulating vitamin D concentration | Decreased circulating vitamin E concentration | Decreased circulating vitamin K concentration | Depressed nasal ridge | Enlarged kidney | Esophageal varix | Fat malabsorption | Feeding difficulties | Gastrointestinal hemorrhage | Growth delay | Hepatic fibrosis | Hepatoblastoma | Hepatosplenomegaly | Hypersplenism | Hypertension | Hyponatremia | Hypoventilation | Increased serum bile acid concentration | Jaundice | Low-set ears | Micrognathia | Oligohydramnios | Oliguria | Pancreatic cysts | Periportal fibrosis | Polycystic kidney dysplasia | Polydipsia | Portal hypertension | Protein-losing enteropathy | Pulmonary hypoplasia | Recurrent pneumonia | Recurrent urinary tract infections | Reduced circulating vitamin A concentration | Reduced renal corticomedullary differentiation | Renal insufficiency | Respiratory failure | Splenomegaly | Spontaneous pneumothorax | Stage 5 chronic kidney disease | Thrombocytopenia" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | タンパク漏出性腸症 | ビタミンA欠乏症 | ビタミンD欠乏症 | ビタミンE欠乏症 | ビタミンK欠乏症 | 乏尿 | 低ナトリウム血症 | 低換気 | 先天性肝線維症 | 反復性尿路感染症 | 反復性肺炎 | 呼吸不全 | 多嚢胞性腎異形成 | 多飲 | 小顎 | 急性腎外傷 | 成長遅滞 | 羊水過少 | 耳介低位 | 肝内胆管の異常 | 肝線維症 | 肝脾腫 | 肝芽腫 | 肺低形成 | 胃腸出血 | 胆汁うっ滞 | 胆管過形成 | 脂肪吸収不全 | 脾機能亢進 | 脾腫 | 腎不全 | 腎拡大 | 腎皮質髄質分化の減少 | 腹水 | 膵膿瘍 | 自然気胸 | 落ちくぼんだ鼻梁 | 血小板減少 | 血清胆汁酸濃度の増加 | 認知障害 | 門脈周囲線維症 | 門脈圧亢進 | 食道静脈瘤 | 食餌摂取障害 | 高血圧 | 黄疸" ] }, { "id": "NANDO:2200636", "label_en": "Hemolytic anemia", "label_ja": "溶血性貧血（脾機能亢進症によるものに限る。）", "yomigana": "ようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200636", "notificationNumber": "52", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100184", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200255", "label_en": "Taussig-Bing anomaly", "label_ja": "タウジッヒ・ビング奇形", "yomigana": "たうじっひ・びんぐきけい", "url": "http://nanbyodata.jp/ontology/NANDO_2200255", "notificationNumber": "97", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100076", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200311", "label_en": "Post-Fontan syndrome", "label_ja": "フォンタン術後症候群", "yomigana": "ふぉんたんじゅつごしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200311", "notificationNumber": "90", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100108", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200279", "label_en": "Peripheral pulmonary stenosis", "label_ja": "末梢性肺動脈狭窄症", "yomigana": "まっしょうせいはいどうみゃくきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200279", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100094", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200796", "label_en": "Other inherited deficiency of complement system", "label_ja": "49及び50に掲げるもののほか、先天性補体欠損症", "yomigana": "49および50にかかげるもののほか、せんてんせいほたいけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200796", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200404", "label_en": "NR0B1　abnormality", "label_ja": "NR0B1異常症", "yomigana": "えぬあーる0びー1いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200404", "notificationNumber": "82", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Sex reversal | X-linked inheritance" ], "symptoms_ja_list": [ "X連鎖遺伝 | 性逆転" ] }, { "id": "NANDO:2200678", "label_en": "Factor X deficiency", "label_ja": "第Ⅹ因子欠乏症", "yomigana": "だい10いんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200678", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201050", "label_en": "Familial central diabetes insipidus", "label_ja": "家族性中枢性尿崩症", "yomigana": "かぞくせいちゅうすうせいにょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201050", "notificationNumber": "75", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100117", "symptoms_en_list": [ "Autosomal dominant inheritance | Central diabetes insipidus | Diabetes insipidus | Diarrhea | Fever | Gliosis | Growth delay | Hypertelorism | Irritability | Lethargy | Long philtrum | Osteopenia | Polydipsia | Short nose | Vomiting | Weight loss | Wide nose" ], "symptoms_ja_list": [ "下痢 | 両眼隔離 | 中枢性尿崩症 | 体重喪失 | 嘔吐 | 多飲 | 尿崩症 | 常染色体顕性遺伝 | 幅広い鼻 | 成長遅滞 | 無気力 | 発熱 | 短い鼻 | 神経膠症 | 被刺激性 | 長い人中 | 骨減少症" ] }, { "id": "NANDO:2200517", "label_en": "Other disorders of fatty-acid metabolism", "label_ja": "40から48までに掲げるもののほか、脂肪酸代謝異常症", "yomigana": "40から48までにかかげるもののほか、しぼうさんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200517", "notificationNumber": "49", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100294", "label_en": "Vascular disease", "label_ja": "脈管系疾患", "yomigana": "みゃっかんけい/みゃくかんけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100294", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100009", "label_en": "Nephrotic syndrome", "label_ja": "ネフローゼ症候群", "yomigana": "ねふろーぜしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100009", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201040", "label_en": "Homocystinuria type 2", "label_ja": "ホモシスチン尿症II型", "yomigana": "ほもしすちんにょうしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201040", "notificationNumber": "337", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal brain morphology | Abnormal facial shape | Abnormal heart morphology | Abnormal macular pigmentation | Abnormal speech pattern | Abnormality of extrapyramidal motor function | Abnormality of the nervous system | Acute kidney injury | Ataxia | Atrophy of the spinal cord | Atypical behavior | Auditory hallucination | Autosomal recessive inheritance | Axial hypotonia | Bradycardia | Cardiac arrest | Cerebral atrophy | Cerebral cortical atrophy | Childhood onset | Confusion | Cystathioninemia | Cystathioninuria | Decreased circulating adenosylcobalamin concentration | Decreased circulating methylcobalamin concentration | Decreased methionine synthase activity | Decreased methylmalonyl-CoA mutase activity | Decreased total neutrophil count | Deep venous thrombosis | Dehydration | Dementia | Developmental regression | Dilated cardiomyopathy | Encephalopathy | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Generalized hypotonia | Global developmental delay | Glomerulopathy | Glossitis | Growth delay | Hematuria | Hemolytic-uremic syndrome | Hepatomegaly | High forehead | Homocystinuria | Hydrocephalus | Hydrops fetalis | Hyperammonemia | Hyperhomocystinemia | Hypoglycemia | Hypomethioninemia | Hypotension | Hypothermia | Hypotonia | Infantile onset | Infantile spasms | Intellectual disability | Intrauterine growth retardation | Jaundice | Juvenile onset | Ketonuria | Lethargy | Leukoencephalopathy | Long face | Low-set ears | Macrotia | Macular pseudocoloboma | Megaloblastic anemia | Memory impairment | Mental deterioration | Metabolic acidosis | Methylmalonic acidemia | Methylmalonic aciduria | Microcephaly | Middle age onset | Neonatal onset | Nephropathy | Neurodevelopmental delay | Nystagmus | Optic atrophy | Pallor | Peripheral demyelination | Personality changes | Pigmentary retinopathy | Poor fine motor coordination | Proteinuria | Psychosis | Pulmonary arterial hypertension | Pulmonary embolism | Reduced visual acuity | Renal insufficiency | Respiratory distress | Retinal degeneration | Seizure | Severe demyelination of the white matter | Small for gestational age | Smooth philtrum | Stomatitis | Stroke | Subdural hemorrhage | Tachycardia | Thrombocytopenia | Thromboembolism | Tremor | Visual impairment | Vomiting | Young adult onset" ], "symptoms_ja_list": [ "Dementia | methylmalonyl-CoA mutase 活性の減少 | アデノシルコバラミンの減少 | ケトン尿 | シスタシオニン血症 | シスタチオニン尿 | ホモシスチン尿 | メチオニン合成酵素活性の減少 | メチルコバラミンの減少 | メチルマロン酸尿 | メチルマロン酸血症 | 中心視力減少 | 乳児スパスム | 代謝性アシドーシス | 低メチオニン血症 | 低体温 | 低血圧 | 低血糖 | 体幹の筋緊張低下 | 全般性発達遅滞 | 全身性筋緊張低下 | 卒中 | 口内炎 | 呼吸窮迫 | 嘔吐 | 在胎月齢より小さい児 | 大耳 | 大脳皮質萎縮 | 大脳萎縮 | 好中球減少症 | 子宮内成長遅滞 | 小頭 | 巨赤芽球性貧血 | 常染色体潜性遺伝 | 平坦な人中 | 徐脈 | 微細運動協調不全 | 心停止 | 心形態の異常 | 急性腎外傷 | 性格変化 | 成長遅滞 | 成長障害 (成長不全) | 拡張型心筋症 | 振戦 | 末梢神経脱髄 | 水頭症 | 深部静脈血栓症 | 溶血性尿毒症候群症候群 | 無気力 | 異常な顔の形 | 発作 | 発達退行 | 白質の重度脱髄 | 白質脳症 | 眼振 | 知的障害 | 知能悪化 | 硬膜下出血 | 神経学的発語障害 | 神経発生遅延 | 神経系の異常 | 筋緊張低下 | 精神病 | 糸球体症 | 網膜変性 | 耳介低位 | 聴覚幻覚 | 肝腫 | 肺塞栓症 | 肺高血圧 | 胎児水腫 | 脊髄萎縮 | 脱水 | 脳形態の異常 | 脳症 | 腎不全 | 腎症 | 舌炎 | 色素性網膜症 | 蒼白 | 蛋白尿 | 血小板減少 | 血尿 | 血栓塞栓症 | 行動異常 | 視力障害 | 視神経萎縮 | 記憶障害 | 運動失調 | 錐体外路運動機能の異常 | 錯乱 | 長い顔 | 頻拍 | 食餌摂取障害 | 食餌摂取障害 in infancy | 高い額 | 高アンモニア血症 | 高ホモシスチン血症 | 黄斑コロボーマ | 黄斑色素の異常 | 黄疸" ] }, { "id": "NANDO:2201221", "label_en": "Type 2 Farber disease", "label_ja": "中間型ファーバー病", "yomigana": "ちゅうかんがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201221", "notificationNumber": "123", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201499", "label_en": "Focal cortical dysplasia type 1a", "label_ja": "限局性皮質異形成タイプ1a", "yomigana": "げんきょくせいひしついけいせいたいぷ1えー", "url": "http://nanbyodata.jp/ontology/NANDO_2201499", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201026", "label_en": "Chronic progressive chronic inflammatory demyelinating polyneuropathy", "label_ja": "慢性進行性慢性炎症性脱髄性多発神経炎", "yomigana": "まんせいしんこうせいまんせいえんしょうせいだつずいせいたはつしんけいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201026", "notificationNumber": "14", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200706", "label_en": "Nijmegen breakage syndrome", "label_ja": "ナイミーヘン染色体不安定症候群", "yomigana": "ないみーへんせんしょくたいふあんていしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200706", "notificationNumber": "52", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [ "2-3 toe syndactyly | Abnormal eyelid morphology | Abnormal hair morphology | Abnormal hair quantity | Abnormality of chromosome stability | Abnormality of neuronal migration | Abnormality of the face | Abnormality of the musculature | Acute leukemia | Anal atresia | Anal stenosis | Anorectal anomaly | Attention deficit hyperactivity disorder | Autoimmune hemolytic anemia | Autosomal recessive inheritance | B-cell lymphoma | Bronchiectasis | Cachexia | Cafe-au-lait spot | Choanal atresia | Chronic diarrhea | Cleft palate | Cleft upper lip | Congenital onset | Conjunctival telangiectasia | Convex nasal ridge | Cutaneous photosensitivity | Decreased total B cell count | Decreased total T cell count | Deep philtrum | Delayed speech and language development | Depressed nasal bridge | Diarrhea | Epicanthus | Freckling | Glioma | Hearing abnormality | Hemolytic anemia | Hydronephrosis | Hyperactivity | Intellectual disability | Intrauterine growth retardation | Long nose | Low anterior hairline | Lymphoma | Macrotia | Malar prominence | Mastoiditis | Medulloblastoma | Mental deterioration | Microcephaly | Micrognathia | Muscle weakness | Neoplasm | Neurodegeneration | Non-midline cleft of the upper lip | Pollakisuria | Premature ovarian insufficiency | Progressive vitiligo | Prominent nasal bridge | Prominent nose | Recurrent bronchitis | Recurrent infection of the gastrointestinal tract | Recurrent otitis media | Recurrent pneumonia | Recurrent respiratory infections | Recurrent sinopulmonary infections | Recurrent urinary tract infections | Respiratory failure | Retinal pigment epithelial mottling | Retrognathia | Rhabdomyosarcoma | Sandal gap | Short neck | Short stature | Sinusitis | Skeletal muscle atrophy | Sloping forehead | T-cell lymphoma | Thrombocytopenia | Upslanted palpebral fissure | obsolete Dysgammaglobulinemia" ], "symptoms_ja_list": [ "B リンパ球減少症 | B-細胞リンパ腫 | T リンパ球減少症 | T-細胞リンパ腫 | カフェオーレ斑 | サンダルギャップ | ニューロン移動の異常 | リンパ腫 | 上口唇裂 | 下痢 | 下顎後退 | 乳様突起炎 | 低い前部毛髪線 | 低身長 | 内眼角贅皮 | 凸の鼻梁 | 副鼻腔炎 | 反復性中耳炎 | 反復性副鼻腔肺感染症 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性気管支炎 | 反復性肺炎 | 口蓋裂 | 呼吸不全 | 塩胡椒網膜症 | 多動 | 大耳 | 子宮内成長遅滞 | 小頭 | 小顎 | 常染色体潜性遺伝 | 後鼻孔閉鎖 | 急性白血病 | 悪液質 (カヘキシー) | 慢性下痢 | 新生物 | 早発性卵巣不全 | 染色体安定性の異常 | 横紋筋肉腫 | 毛髪の異常 | 気管支拡張 | 水腎症 | 注意力欠陥多動性疾患 | 深い人中 | 溶血性貧血 | 異常な毛髪量 | 異常ガンマグロブリン血症 | 発語および言語発達遅延 | 皮膚光線過敏症 | 目立つ鼻 | 目立つ鼻梁 | 眼瞼の異常 | 眼瞼裂斜上 | 知的障害 | 知能悪化 | 短い頸部 | 神経変性 | 第2-3 合趾症 | 筋の異常 | 筋萎縮 | 筋虚弱 | 結膜毛細血管拡張 | 聴覚異常 | 肛門狭窄 | 肛門直腸奇形 | 胃腸管の反復感染症 | 膠腫 | 自己免疫性溶血性貧血 | 色素斑 | 落ちくぼんだ鼻梁 | 血小板減少 | 進行性白斑 | 鎖肛 | 長い鼻 | 非正中口唇裂 | 頬突出 | 頻用 | 額傾斜 | 顔の異常 | 髄芽腫" ] }, { "id": "NANDO:2200391", "label_en": "Androgen insensitivity syndrome", "label_ja": "アンドロゲン不応症", "yomigana": "あんどろげんふおうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200391", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100140", "symptoms_en_list": [ "Absent facial hair | Elevated circulating follicle stimulating hormone level | Elevated circulating luteinizing hormone level | Female external genitalia in individual with 46", "XY karyotype | Growth abnormality | Gynecomastia | Inguinal hernia | Labial hypoplasia | Neoplasm | Primary amenorrhea | Sparse axillary hair | Sparse pubic hair | X-linked recessive inheritance" ], "symptoms_ja_list": [ "46", "XY核型での女性外性器 | X連鎖潜性遺伝 | 卵胞刺激ホルモン上昇 | 原発性無月経 | 女性型乳房 | 成長異常 | 新生物 | 疎な恥毛 | 疎な腋毛 | 陰唇低形成 | 顔毛欠損 | 黄体形成ホルモン上昇 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200845", "label_en": "Crouzon disease", "label_ja": "クルーゾン病", "yomigana": "くるーぞんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200845", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [ "Abnormal facial shape | Abnormal sacrum morphology | Abnormal skull morphology | Abnormality of the cervical spine | Acanthosis nigricans | Amblyopia | Atresia of the external auditory canal | Autosomal dominant inheritance | Brachycephaly | Cerebellar hypoplasia | Chiari malformation | Choanal atresia | Conductive hearing impairment | Conjunctivitis | Convex nasal ridge | Coronal craniosynostosis | Craniofacial dysostosis | Dental crowding | Deviated nasal septum | Dysgerminoma | Frontal bossing | Headache | Hearing impairment | High forehead | High palate | Hydrocephalus | Hypertelorism | Hypopigmented skin patches | Hypoplasia of the maxilla | Increased intracranial pressure | Intellectual disability | Iris coloboma | Keratitis | Lambdoidal craniosynostosis | Mandibular prognathia | Melanocytic nevus | Midface retrusion | Multiple suture craniosynostosis | Narrow internal auditory canal | Narrow palate | Optic atrophy | Proptosis | Ptosis | Respiratory insufficiency | Sagittal craniosynostosis | Seizure | Shallow orbits | Sleep apnea | Strabismus | Turricephaly | Visual impairment" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | コロボーマ | メラニン細胞母斑 | 上顎低形成 | 下顎突出 | 両眼隔離 | 人字縫合早期癒合 | 仙骨の異常 | 伝音難聴 | 低色素性皮膚斑 | 冠状縫合早期癒合 | 凸の鼻梁 | 前頭突出", "額突出 | 呼吸不全 | 塔状頭 | 外耳道閉鎖 | 多発性頭蓋骨縫合早期癒合 | 小脳低形成 | 常染色体顕性遺伝 | 弱視 | 後鼻孔閉鎖 | 斜視 | 未分化胚細胞腫 | 歯混雑 | 水頭症 | 浅い眼窩 | 狭い内耳道 | 狭い口蓋 | 異常な顔の形 | 発作 | 眼球突出 | 眼瞼下垂 | 睡眠時無呼吸 | 矢状縫合早期癒合 | 知的障害 | 短頭 | 結膜炎 | 視力障害 | 視神経萎縮 | 角膜炎 | 難聴 | 頚椎の異常 | 頭痛 | 頭蓋内圧の増加 | 頭蓋顔面異骨症 | 頭蓋骨の異常 | 顔面中部後退 | 高い額 | 高口蓋 | 黒色表皮腫 | 鼻中隔彎曲" ] }, { "id": "NANDO:2200012", "label_en": "NK cell leukemia", "label_ja": "NK細胞白血病", "yomigana": "えぬけーさいぼうはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200012", "notificationNumber": "82", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200290", "label_en": "Apical hypertrophic cardiomyopathy", "label_ja": "心尖部肥大型心筋症", "yomigana": "しんせんぶひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200290", "notificationNumber": "58", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201115", "label_en": "Propionic acidemia, intermittent late onset form", "label_ja": "最軽症型プロピオン酸血症", "yomigana": "さいけいしょうがたぷろぴおんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201115", "notificationNumber": "106", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200001", "label_en": "Spinal and bulbar muscular atrophy", "label_ja": "球脊髄性筋萎縮症", "yomigana": "きゅうせきずいせいきんいしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200001", "notificationNumber": "1", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal circulating lipid concentration | Abnormality of movement | Abnormality of the mouth | Adult onset | Bulbar palsy | Calf muscle hypertrophy | Decreased fertility | Dysarthria | Dysphagia | Dysphonia | Elevated circulating creatine kinase activity | Erectile dysfunction | Fasciculations | Gait disturbance | Gynecomastia | Hyporeflexia | Hypotonia | Limb muscle weakness | Muscle spasm | Peripheral neuropathy | Sensory neuropathy | Skeletal muscle atrophy | Slowly progressive | Testicular atrophy | Tremor | Type II diabetes mellitus | X-linked recessive inheritance" ], "symptoms_ja_list": [ "II 型糖尿病 | X連鎖潜性遺伝 | 勃起異常 | 反射低下 | 口の異常 | 嚥下障害 | 四肢筋虚弱 | 女性型乳房 | 妊孕性減少 | 感覚ニューロパチー | 振戦 | 末梢神経ニューロパチー | 構音障害 | 歩行障害 | 球麻痺 | 発音障害 | 筋けいれん | 筋緊張低下 | 筋萎縮 | 精巣萎縮 | 線維束性収縮 | 脂質代謝の異常 | 腓腹筋肥大 | 血清 creatine phosphokinase上昇 | 運動の異常" ] }, { "id": "NANDO:2200762", "label_en": "IRAK4 deficiency", "label_ja": "IRAK4欠損症", "yomigana": "あいらっく4けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200762", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Abnormal total B cell count | Abnormal total T cell number | Autosomal recessive inheritance | Childhood onset | Decreased total neutrophil count | Fever | Immunodeficiency | Increased circulating IgE concentration | Infantile onset | Liver abscess | Meningitis | Recurrent bacterial infections | Recurrent bacterial skin infections | Recurrent staphylococcal infections | Recurrent streptococcus pneumoniae infections | Septic arthritis" ], "symptoms_ja_list": [ "B 細胞数の異常 | IgE 値増加 | T 細胞数の異常 | 免疫不全 | 反復性ブドウ球菌感染症 | 反復性細菌性皮膚感染症 | 反復性細菌感染症 | 好中球減少症 | 常染色体潜性遺伝 | 敗血症性関節炎 | 発熱 | 肝膿瘍 | 髄膜炎" ] }, { "id": "NANDO:2200104", "label_en": "Teratoma of the central nervous system", "label_ja": "奇形腫", "yomigana": "きけいしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200104", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200642", "label_en": "Pachydermoperiostosis", "label_ja": "肥厚性皮膚骨膜症", "yomigana": "ひこうせいひふこつまくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200642", "notificationNumber": "165", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal bone marrow cell morphology | Abnormal cortical bone morphology | Abnormal epiphysis morphology | Abnormal fingernail morphology | Abnormal hair pattern | Abnormal hair quantity | Acne | Anemia | Arthralgia | Arthritis | Avascular necrosis | Bone pain | Cerebral palsy | Clubbing of toes | Coarse facial features | Cutis gyrata of scalp | Eczematoid dermatitis | Edema | Elevated circulating growth hormone concentration | Gastrointestinal hemorrhage | Genu varum | Gynecomastia | Hepatomegaly | Hyperhidrosis | Impaired temperature sensation | Joint swelling | Limitation of joint mobility | Malabsorption | Neoplasm of the lung | Neoplasm of the skin | Osteolysis | Osteomyelitis | Osteoporosis | Palmoplantar keratoderma | Peptic ulcer | Ptosis | Scoliosis | Seborrheic dermatitis | Small hand | Splenomegaly | Thickened skin" ], "symptoms_ja_list": [ "?瘡 | ばち趾 | 側弯 | 内反膝 | 分厚い皮膚 | 吸収障害 | 多汗 | 女性型乳房 | 小さい手 | 成長ホルモン過剰症 | 指爪の異常 | 掌蹠角皮症 | 浮腫 | 消化性潰瘍 | 温度覚障害 | 湿疹 | 無菌性壊死 | 異常な毛髪パターン | 異常な毛髪量 | 皮膚新生物 | 眼瞼下垂 | 粗な顔貌 | 肝腫 | 肺新生物 | 胃腸出血 | 脂漏性皮膚炎 | 脳回状頭皮 | 脳性麻痺 | 脾腫 | 貧血 | 関節炎 | 関節痛 | 関節腫脹 | 関節運動制限 | 骨痛 | 骨皮質形態異常 | 骨端の異常 | 骨粗鬆症 | 骨融解 | 骨髄炎 | 骨髄細胞形態の異常" ] }, { "id": "NANDO:1200428", "label_en": "Pulmonary capillary hemangiomatosis", "label_ja": "肺毛細血管腫症", "yomigana": "はいもうさいけっかんしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200428", "notificationNumber": "87", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200561", "label_en": "Niemann-Pick disease", "label_ja": "ニーマン・ピック病", "yomigana": "にーまん・ぴっくびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200561", "notificationNumber": "122", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200445", "label_en": "small bowel Crohn disease", "label_ja": "小腸型クローン病", "yomigana": "しょうちょうがたくろーんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200445", "notificationNumber": "96", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100130", "label_en": "Apparent mineralocorticoid excess syndrome", "label_ja": "見かけの鉱質コルチコイド過剰症候群", "yomigana": "みかけのこうしつこるちこいどかじょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100130", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200491", "label_en": "Facioscapulohumeral muscular dystrophy", "label_ja": "顔面肩甲上腕型筋ジストロフィー", "yomigana": "がんめんけんこうじょうわんがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200491", "notificationNumber": "113", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abdominal wall muscle weakness | Abnormal retinal vascular morphology | Camptocormia | Chronic pain | Complete right bundle branch block | Conjunctivitis | Decreased facial expression | Distal upper limb muscle weakness | EMG: myopathic abnormalities | Elevated circulating creatine kinase activity | Foot dorsiflexor weakness | Frequent falls | Gait disturbance | Hyperlordosis | Keratitis | Limb-girdle muscle weakness | Mask-like facies | Pectoralis amyotrophy | Pectus excavatum | Progressive muscle weakness | Protuberant abdomen | Respiratory insufficiency | Restrictive ventilatory defect | Retinal detachment | Scapular winging | Scoliosis | Seizure | Sensorineural hearing impairment | Serous retinal detachment | Skeletal muscle atrophy | Steppage gait | Straight clavicle | Supraventricular arrhythmia | Visual loss" ], "symptoms_ja_list": [ "上室性不整脈 | 仮面様顔貌 | 側弯 | 前屈症 | 前弯 | 右脚ブロック | 呼吸不全 | 感音難聴 | 慢性疼痛 | 拘束性肺疾患 | 歩行障害 | 滲出性網膜剥離 | 漏斗胸 | 発作 | 真っ直ぐな鎖骨 | 筋萎縮 | 筋電図: ミオパチー異常 | 結膜炎 | 網膜剥離 | 網膜血管の異常 | 翼状肩甲骨 | 肢帯筋虚弱 | 胸筋筋萎縮 | 腹筋虚弱 | 腹部突出 | 血清 creatine phosphokinase上昇 | 表情の減少 | 視力喪失 | 角膜炎 | 足背屈筋虚弱 | 進行性筋虚弱 | 遠位上肢筋虚弱 | 頻回の転倒 | 鶏歩" ] }, { "id": "NANDO:1200411", "label_en": "Addison's disease", "label_ja": "アジソン病", "yomigana": "あじそんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200411", "notificationNumber": "83", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal skin pigmentation | Abnormality of the cardiovascular system | Adrenal hypoplasia | Adrenal insufficiency | Apnea | Autosomal recessive inheritance | Cyanosis | Feeding difficulties in infancy | Hyperkalemia | Hypoglycemia | Hyponatremia | Seizure | Vomiting" ], "symptoms_ja_list": [ "チアノーゼ | 低ナトリウム血症 | 低血糖 | 副腎不全 | 副腎低形成 | 嘔吐 | 常染色体潜性遺伝 | 心血管系 | 無呼吸 | 発作 | 皮膚色素の異常 | 食餌摂取障害 in infancy | 高カリウム血症" ] }, { "id": "NANDO:2200086", "label_en": "Anaplastic astrocytoma", "label_ja": "退形成性星細胞腫", "yomigana": "たいけいせいせいせいさいぼうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200086", "notificationNumber": "63", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200650", "label_en": "Ehlers-Danlos syndrome, arthrochalasis type", "label_ja": "多発関節弛緩型エーラス・ダンロス症候群", "yomigana": "たはつかんせつしかんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200650", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormality of subcutaneous fat tissue | Aphasia | Avascular necrosis of the capital femoral epiphysis | Coxa valga | Coxa vara | Depressed nasal bridge | Echolalia | Epicanthus | Femoral hernia | Hip dislocation | Hip dysplasia | Hyperextensible skin | Hypertelorism | Hypotonia | Inguinal hernia | Joint dislocation | Joint hypermobility | Joint stiffness | Micrognathia | Muscle flaccidity | Mutism | Retrognathia | Scarring | Scoliosis | Severe short stature | Thin skin" ], "symptoms_ja_list": [ "下顎後退 | 両眼隔離 | 側弯 | 内反股 | 内眼角贅皮 | 反響言語 | 外反股 | 大腿ヘルニア | 大腿骨骨頭骨端の無血管性壊死 | 失語症 | 小顎 | 無言症 | 瘢痕 | 皮下脂肪組織の異常 | 筋弛緩 | 筋緊張低下 | 股関節異形成 | 股関節脱臼 | 落ちくぼんだ鼻梁 | 薄い皮膚 | 過伸展皮膚 | 重度の低身長 | 関節拘縮 | 関節脱臼 | 関節過動 | 鼠径ヘルニア" ] }, { "id": "NANDO:2100063", "label_en": "Chronic pericarditis", "label_ja": "慢性心膜炎", "yomigana": "まんせいしんまくえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100063", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100097", "label_en": "Unilateral absence of a pulmonary artery", "label_ja": "一側肺動脈欠損", "yomigana": "いっそくはいどうみゃくけっそん", "url": "http://nanbyodata.jp/ontology/NANDO_2100097", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200124", "label_en": "Henoch-Schonlein purpura nephritis", "label_ja": "紫斑病性腎炎", "yomigana": "しはんびょうせいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200124", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200068", "label_en": "Polyembryoma", "label_ja": "多胎芽腫", "yomigana": "たたいがしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200068", "notificationNumber": "30", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormal peritoneum morphology | Abnormal sacrum morphology | Abnormality of the endocrine system | Elevated circulating alpha-fetoprotein concentration | Fever | Gonadal neoplasm | Increased serum serotonin | Irregular menstruation | Isosexual precocious puberty | Macroorchidism | Neoplasm of head and neck" ], "symptoms_ja_list": [ "α-フェトプロテイン上昇 | 仙骨の異常 | 内分泌系異常 | 同性早発遅発 | 巨大精巣 | 性腺新生物 | 月経不純 | 発熱 | 腹痛 | 腹膜の異常 | 腹部膨満 | 血清セロトニン増加 | 頭頸部新生物" ] }, { "id": "NANDO:2100277", "label_en": "Persistent cloaca", "label_ja": "総排泄腔異常症", "yomigana": "そうはいせつくういじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100277", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200201", "label_en": "Atypical subacute sclerosing panencephalitis", "label_ja": "亜急性硬化性全脳炎（非典型）", "yomigana": "あきゅうせいこうかせいぜんのうえん（ひてんけい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200201", "notificationNumber": "24", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201304", "label_en": "Non-syndromic lambdoid craniosynostosis", "label_ja": "非症候性頭蓋骨縫合早期癒合症（人字縫合）", "yomigana": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう（じんじほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201304", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200194", "label_en": "Variant Creutzfeldt-Jakob disease", "label_ja": "変異型クロイツフェルトヤコブ病", "yomigana": "へんいがたくろいつふぇるとやこぶびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200194", "notificationNumber": "23", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201196", "label_en": "GM1 gangliosidosis, infantile form", "label_ja": "乳児型GM1-ガングリオシドーシス", "yomigana": "にゅうじがたじーえむ1がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201196", "notificationNumber": "118", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal facial shape | Abnormal heart valve morphology | Abnormal odontoid tissue morphology | Abnormal placenta morphology | Abnormality of the nervous system | Abnormality of the skeletal system | Abnormality of the urinary system | Acetabular dysplasia | Angiokeratoma corporis diffusum | Aspiration pneumonia | Autosomal recessive inheritance | Beaking of vertebral bodies | Beaking of vertebral bodies T12-L3 | Blindness | Broad long bone diaphyses | Broad metacarpals | Broad nasal tip | Cardiomyopathy | Cerebral degeneration | Cherry red spot of the macula | Coarse facial features | Congestive heart failure | Death in infancy | Decreased beta-galactosidase activity | Depressed nasal bridge | Depressed nasal ridge | Developmental regression | Diffuse cerebral atrophy | Diffuse white matter abnormalities | Dilated cardiomyopathy | Dysostosis multiplex | Exaggerated startle response | Feeding difficulties | Flared iliac wing | Flattened femoral head | Floppy infant | Frontal bossing | Gingival overgrowth | Global developmental delay | Hearing impairment | Hepatomegaly | Hepatosplenomegaly | Hirsutism | Hydrops fetalis | Hypertelorism | Hypertonia | Hypertrichosis | Hypertrophic cardiomyopathy | Hypoplastic vertebral bodies | Hypotonia | Infantile onset | Inguinal hernia | Intellectual disability | Intrauterine growth retardation | Joint stiffness | Kyphosis | Large sella turcica | Long philtrum | Low-set ears | Macroglossia | Macrotia | Pectus carinatum | Platyspondyly | Scoliosis | Seizure | Severe short stature | Short long bone | Short neck | Skeletal dysplasia | Spasticity | Spatulate ribs | Splenomegaly | T2 hypointense basal ganglia | Thickened calvaria | Thickened ribs | Thickened skin | Urinary glycosaminoglycan excretion | Vacuolated lymphocytes" ], "symptoms_ja_list": [ "T2 低輝度基底核 | β-ガラクトシダーゼ活性の減少 | うっ血性心不全 | くちばし状T12-L3椎体骨 | くちばし状椎体骨 | はと胸 | びまん性体部被角血管腫 | びまん性大脳萎縮 | びまん性白質異常 | へら状肋骨 | 両眼隔離 | 乳児筋性筋緊張低下 | 側弯 | 全般性発達遅滞 | 分厚い皮膚 | 分厚い頭蓋冠 | 前頭突出", "額突出 | 多毛 | 多毛症 | 多発性異骨症 | 大きなトルコ鞍 | 大耳 | 大脳変性 | 子宮内成長遅滞 | 寛骨臼異形成 | 尿中グリコサミノグリカン排泄 | 尿路異常 | 巨舌 | 常染色体潜性遺伝 | 幅広い中手骨 | 幅広い長管骨骨幹 | 幅広い鼻尖 | 平坦な大腿骨頭 | 後弯 | 心弁の異常 | 心筋症 | 扁平脊椎 | 拡張型心筋症 | 椎体骨低形成 | 歯肉過成長 | 異常な顔の形 | 痙性 | 発作 | 発達退行 | 盲 | 知的障害 | 短い長管骨 | 短い頸部 | 神経系の異常 | 空胞化リンパ球 | 筋緊張亢進 | 筋緊張低下 | 粗な顔貌 | 耳介低位 | 肋骨肥厚 | 肝脾腫 | 肝腫 | 肥大型心筋症 | 胎児水腫 | 胎盤の異常 | 脾腫 | 腸骨翼フレア | 落ちくぼんだ鼻梁 | 誇張された驚愕反応 | 誤嚥性肺炎 | 重度の低身長 | 長い人中 | 関節拘縮 | 難聴 | 食餌摂取障害 | 骨格の異常 | 骨格異形成 | 黄斑のチェリーレッド斑 | 鼠径ヘルニア" ] }, { "id": "NANDO:1201050", "label_en": "COACH syndrome", "label_ja": "COACH症候群", "yomigana": "しーおーえーしーえいちしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201050", "notificationNumber": "177", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200633", "label_en": "Bullous pemphigoid", "label_ja": "水疱性類天疱瘡", "yomigana": "すいほうせいるいてんぽうそう", "url": "http://nanbyodata.jp/ontology/NANDO_1200633", "notificationNumber": "162", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Autoimmunity | Diabetes mellitus | Eczematoid dermatitis | Erythema | Macule | Oral mucosal blisters | Pruritus | Psoriasiform dermatitis | Recurrent infections | Urticaria | Weight loss" ], "symptoms_ja_list": [ "乾癬 | 体重喪失 | 反復性感染症 | 口腔粘膜水泡 | 掻痒 | 斑 | 湿疹 | 異常な皮膚水泡 | 糖尿病 | 紅斑 | 自己免疫 | 蕁麻疹" ] }, { "id": "NANDO:2200302", "label_en": "Mitral valve stenosis", "label_ja": "僧帽弁狭窄症", "yomigana": "そうぼうべんきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200302", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100105", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200903", "label_en": "Acute encephalitis with refractory, repetitive partial seizures", "label_ja": "難治頻回部分発作重積型急性脳炎", "yomigana": "なんちひんかいぶぶんほっさじゅうせきがたきゅうせいのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200903", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100249", "symptoms_en_list": [ "Atypical behavior | Autoimmunity | Cough | Developmental regression | EEG abnormality | Fever | Focal-onset seizure | Headache | Lethargy | Myalgia | Sinusitis | Sudden death" ], "symptoms_ja_list": [ "副鼻腔炎 | 外層 | 無気力 | 焦点性発作 | 発熱 | 発達退行 | 筋痛 | 脳波異常 | 自己免疫 | 行動異常 | 頭痛" ] }, { "id": "NANDO:2200406", "label_en": "Multiple endocrine neoplasia type 2", "label_ja": "多発性内分泌腫瘍2型", "yomigana": "たはつせいないぶんぴつしゅよう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200406", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100148", "symptoms_en_list": [ "Abdominal distention | Adult onset | Aganglionic megacolon | Anxiety | Autosomal dominant inheritance | Chest pain | Constipation | Diarrhea | Disproportionate tall stature | Elevated circulating calcitonin concentration | Elevated circulating parathyroid hormone level | Elevated urinary catecholamine level | Elevated urinary dopamine level | Elevated urinary epinephrine level | Elevated urinary norepinephrine level | Elevated urinary vanillylmandelic acid | Headache | Hypercalcemia | Hypercalciuria | Hyperhidrosis | Hyperlordosis | Hyperparathyroidism | Hypertension | Hypertension associated with pheochromocytoma | Hypertensive crisis | Increased circulating cortisol level | Joint hypermobility | Kidney stone | Kyphoscoliosis | Medullary thyroid carcinoma | Muscle weakness | Neoplasm of the liver | Neoplasm of the lung | Neoplasm of the skeletal system | Pallor | Palpitations | Paraganglioma of head and neck | Parathyroid adenoma | Parathyroid hyperplasia | Pheochromocytoma | Primary hyperparathyroidism | Prominent corneal nerve fibers | Proximal amyotrophy | Reduced subcutaneous adipose tissue | Thick vermilion border | Thyroid C cell hyperplasia | Young adult onset" ], "symptoms_ja_list": [ "カルシトニン上昇 | 下痢 | 不均衡型高身長 | 不安 | 便秘 | 共通 | 分厚い唇紅部縁 | 前弯 | 副甲状腺機能亢進症 | 副甲状腺腺腫 | 副甲状腺過形成 | 動悸 | 原発性副甲状腺機能亢進症 | 多汗 | 尿中エピネフリン上昇 | 尿中カテコラミン上昇 | 尿中ドパミン上昇 | 尿中ノルエピネフリン上昇 | 尿中バニリルマンデル酸上昇 | 常染色体顕性遺伝 | 後側弯 | 循環性コルチゾール 値増加 | 循環性副甲状腺ホルモン(PTH) 値上昇 | 無神経節性巨大結腸 | 甲状腺 C 細胞 | 甲状腺髄様癌 | 皮下脂肪組織減少 | 目立つ角膜神経線維 | 筋虚弱 | 肝新生物 | 肺新生物 | 腎結石 | 腹部膨満 | 蒼白 | 褐色細胞腫 | 褐色細胞腫を伴う高血圧 | 近位筋萎縮 | 関節過動 | 頭と頸部の傍神経節腫 | 頭痛 | 骨格新生物 | 高カルシウム尿 | 高カルシウム血症 | 高血圧 | 高血圧クライシス" ] }, { "id": "NANDO:1200898", "label_en": "Acquired hemophilia A", "label_ja": "自己免疫性後天性凝固第 VIII/8 因子欠乏症", "yomigana": "じこめんえきせいこうてんせいぎょうこだい8/8いんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200898", "notificationNumber": "288", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200270", "label_en": "Ventricular septal defect", "label_ja": "心室中隔欠損症", "yomigana": "しんしつちゅうかくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200270", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100087", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200920", "label_en": "Atypical Alagille Syndrome", "label_ja": "アラジール症候群非典型例", "yomigana": "あらじーるしょうこうぐんひてんけいれい", "url": "http://nanbyodata.jp/ontology/NANDO_1200920", "notificationNumber": "297", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200900", "label_en": "Acquired factor V inhibitor", "label_ja": "自己免疫性後天性凝固第 V/5 因子欠乏症", "yomigana": "じこめんえきせいこうてんせいぎょうこだい5/5いんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200900", "notificationNumber": "288", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200664", "label_en": "Williams syndrome", "label_ja": "ウィリアムズ症候群", "yomigana": "うぃりあむずしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200664", "notificationNumber": "179", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abdominal pain | Abnormal cardiac septum morphology | Abnormal carotid artery morphology | Abnormal cerebral vascular morphology | Abnormal circulating lipid concentration | Abnormal dental enamel morphology | Abnormal dental morphology | Abnormal dermatoglyphics | Abnormal diencephalon morphology | Abnormal endocardium morphology | Abnormal fingernail morphology | Abnormal gastric mucosa morphology | Abnormal nervous system morphology | Abnormal pelvic girdle bone morphology | Abnormal renal morphology | Abnormal social behavior | Abnormal speech pattern | Abnormal tubulointerstitial morphology | Abnormal vertebral body morphology | Abnormality of extrapyramidal motor function | Abnormality of refraction | Abnormality of the ankle | Abnormality of the bladder | Abnormality of the cardiovascular system | Abnormality of the neck | Abnormality of the voice | Adducted thumb | Amblyopia | Anteverted nares | Anxiety | Aortic arch aneurysm | Aplasia/Hypoplasia of the iris | Arterial stenosis | Arthralgia | Ataxia | Atrial septal defect | Atrophy/Degeneration involving the corticospinal tracts | Attention deficit hyperactivity disorder | Atypical behavior | Autism | Autosomal dominant inheritance | Bicuspid aortic valve | Bladder diverticulum | Blepharophimosis | Blue irides | Broad forehead | Broad nasal tip | Cardiomegaly | Carious teeth | Cataract | Celiac disease | Cerebellar hypoplasia | Cerebral cortical atrophy | Cerebral ischemia | Chiari malformation | Chiari type I malformation | Cholelithiasis | Chronic constipation | Chronic otitis media | Clinodactyly of the 5th finger | Coarse facial features | Colonic diverticula | Compulsive behaviors | Congestive heart failure | Constipation | Corneal opacity | Coronary artery stenosis | Cryptorchidism | Cutis laxa | Death in early adulthood | Delayed skeletal maturation | Dental malocclusion | Depressed nasal bridge | Depression | Developmental regression | Diabetes mellitus | Down-sloping shoulders | Dysarthria | Dysgraphia | Dysmetria | Dysphonia | Early onset of sexual maturation | Elevated circulating creatine kinase activity | Elfin facies | Enuresis | Epicanthus | Everted lower lip vermilion | Failure to thrive in infancy | Feeding difficulties in infancy | Flat cornea | Flexion contracture | Food intolerance | Full cheeks | Functional abnormality of male internal genitalia | Gait disturbance | Gait imbalance | Gastroesophageal reflux | Generalized hypotonia | Genu valgum | Gingival overgrowth | Glaucoma | Glucose intolerance | Hallux valgus | High forehead | High hypermetropia | Hoarse voice | Hyperacusis | Hypercalcemia | Hypercalciuria | Hyperlordosis | Hyperreflexia | Hypertension | Hypertrophic cardiomyopathy | Hypodontia | Hypogonadotropic hypogonadism | Hypoplasia of penis | Hypoplasia of the zygomatic bone | Hypoplastic toenails | Hypotelorism | Hypothyroidism | Hypotonia | Impaired visuospatial constructive cognition | Incoordination | Increased bone mineral density | Increased nuchal translucency | Inguinal hernia | Insomnia | Intellectual disability | Intrauterine growth retardation | Involuntary movements | Joint hypermobility | Joint stiffness | Kidney stone | Kyphoscoliosis | Kyphosis | Lacrimation abnormality | Large earlobe | Long philtrum | Macroglossia | Macrotia | Malabsorption | Malar flattening | Medial flaring of the eyebrow | Megalocornea | Microcephaly | Microdontia | Micrognathia | Micropenis | Midface retrusion | Mitral regurgitation | Mitral valve prolapse | Multiple renal cysts | Myocardial infarction | Myopathy | Myopia | Myxomatous mitral valve degeneration | Narrow face | Narrow forehead | Nausea and vomiting | Nephrocalcinosis | Nevus flammeus | Nystagmus-induced head nodding | Obesity | Obsessive-compulsive trait | Open bite | Open mouth | Osteopenia | Osteoporosis | Overfriendliness | Overriding aorta | Patellar dislocation | Patent ductus arteriosus | Pectus excavatum | Pelvic kidney | Peptic ulcer | Periorbital edema | Periorbital fullness | Peripheral pulmonary artery stenosis | Pes planus | Phonophobia | Pointed chin | Polycystic ovaries | Portal hypertension | Posterior embryotoxon | Posteriorly rotated ears | Precocious puberty | Premature graying of hair | Prematurely aged appearance | Proteinuria | Protruding ear | Pulmonic stenosis | Radioulnar synostosis | Rectal prolapse | Recurrent otitis media | Recurrent respiratory infections | Recurrent urinary tract infections | Redundant skin | Renal artery stenosis | Renal duplication | Renal hypoplasia | Renal insufficiency | Renovascular hypertension | Retinal arteriolar tortuosity | Sacral dimple | Scoliosis | Sensorineural hearing impairment | Short attention span | Short nose | Short stature | Sleep disturbance | Small nail | Soft skin | Spasticity | Spina bifida occulta | Strabismus | Stroke | Sudden cardiac death | Sudden death | Supravalvular aortic stenosis | Synostosis of joints | Tetralogy of Fallot | Thick lower lip vermilion | Tracheoesophageal fistula | Tremor | Type II diabetes mellitus | Umbilical hernia | Urethral stenosis | Ventricular septal defect | Vertebral segmentation defect | Vesicoureteral reflux | Visual impairment | Vocal cord paralysis | Wide mouth | Wide nasal bridge" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | Fallot 四徴症 | I 型Arnold-Chiari 奇形 | II 型糖尿病 | うっ血性心不全 | うつ | なで肩 | セリアック秒 | ミオパチー | 上向きの鼻孔 | 下口唇唇紅部外反 | 不均衡歩行 | 不安 | 不正咬合 | 不眠 | 不随意運動 | 両眼接近 | 乳児期の成長障害 (成長不全) | 二弁性大動脈弁 | 仙骨部陥凹 | 低ゴナドトロピン性性腺機能低下症 | 低身長 | 便秘 | 停留精巣 | 側弯 | 僧帽弁逆流 | 僧帽弁逸脱 | 光恐怖症 | 全身性筋緊張低下 | 内眼角贅皮 | 内転母指 | 冠動脈 狭窄 | 分厚い下口唇唇紅部 | 前弯 | 動脈狭窄 | 動脈管開存症 | 卒中 | 協調運動障害 | 反射亢進 | 反復性中耳炎 | 反復性呼吸器感染症 | 反復性尿路感染症 | 吐気と 嘔吐 | 吸収障害 | 嗄声 | 声の異常 | 声帯麻痺 | 外反母趾 | 外反膝 | 多嚢胞性卵巣 | 多発性腎嚢胞 | 大きな眼窩周囲 | 大きな耳朶 | 大きな頬 | 大動脈弓拡張 | 大動脈騎乗 | 大耳 | 大脳皮質萎縮 | 大脳虚血 | 大脳血管の異常 | 妖精顔貌 | 子宮内成長遅滞 | 小さい爪 | 小歯 | 小脳低形成 | 小陰茎 | 小頭 | 小顎 | 尖った下顎 | 尿細管間質異常 | 尿道狭窄 | 屈折率の異常 | 屈曲拘縮 | 巨大角膜 | 巨舌 | 常染色体顕性遺伝 | 幅広い口 | 幅広い額 | 幅広い鼻尖 | 幅広い鼻梁 | 平坦な角膜 | 平坦な頬 | 弁上性大動脈狭窄 | 弛緩性皮膚 | 弱視 | 強迫性形質 | 強迫性行動 | 後側弯 | 後弯 | 後部胎生環 | 心中隔 | 心内膜の異常 | 心室中隔欠損 | 心房中隔欠損 | 心拡大 | 心筋梗塞 | 心血管系 | 思春期早発 | 性成熟の早期開始 | 感音難聴 | 慢性中耳炎 | 慢性便秘 | 扁平足 | 指爪の異常 | 振戦 | 斜視 | 早発性毛髪白髪 | 早老外観 | 書字障害 | 末梢肺動脈狭窄 | 柔らかい皮膚 | 椎体骨形態異常 | 構音障害 | 橈尺骨癒合 | 歩行障害 | 歯エナメル質異常 | 歯形態異常 | 歯肉過成長 | 気管食道瘻 | 注意力欠陥多動性疾患 | 流涙異常 | 消化性潰瘍 | 減歯症 | 測定障害 | 漏斗胸 | 潜在性二分脊椎 | 火炎状母斑 | 狭い額 | 狭い顔 | 甲状腺機能低下症 | 男性内性器の機能異常 | 異常な皮膚紋理 | 異常な社会的行動 | 痙性 | 発達退行 | 発音障害 | 白内障 | 皮質脊髄路萎縮/変性 | 直腸逸脱 | 眉毛の内側フレア | 眼振誘発性うなずき運動 | 眼瞼裂狭小 | 眼窩周囲浮腫 | 睡眠障害 | 知的障害 | 短い注意期間 | 短い鼻 | 神経学的発語障害 | 神経系形態の異常 | 突然心臓死 | 第5指弯指 | 筋緊張低下 | 粗な顔貌 | 粘液腫性僧帽弁変性 | 糖尿病 | 結腸憩室症 | 網膜小動脈蛇行 | 緑内障 | 耐糖能異常 | 耳介後方回転 | 耳介聳立 | 聴覚過敏 | 肥大型心筋症 | 肥満 | 肺動脈狭窄 | 胃粘膜の異常 | 胃食道逆流 | 胆石症 | 脂質代謝の異常 | 脊椎分節異常 | 腎不全 | 腎低形成 | 腎動脈狭窄 | 腎形態異常 | 腎石灰化症 | 腎結石 | 腎血管性高血圧 | 腎重複 | 腹痛 | 膀胱尿管逆流 | 膀胱憩室 | 膀胱異常 | 膝蓋骨脱臼 | 臍ヘルニア | 自閉症 | 落ちくぼんだ鼻梁 | 虹彩無形成/低形成 | 蛋白尿 | 血清 creatine phosphokinase上昇 | 行動異常 | 視力障害 | 視空間建設的認知の障害 | 角膜混濁 | 足関節の異常 | 趾爪低形成 | 近視 | 運動失調 | 過剰な皮膚 | 遺尿 | 錐体外路運動機能の異常 | 長い人中 | 門脈圧亢進 | 開口 | 開放咬合 | 間脳の異常 | 関節拘縮 | 関節痛 | 関節過動 | 関節骨癒合症 | 陰茎低形成 | 青色虹彩 | 項部透過性増加 | 頬骨未発達 | 頸動脈の異常 | 頸部の異常 | 顔面中部後退 | 食物不耐性 | 食餌摂取障害 in infancy | 馴れ馴れしさ | 骨ミネラル濃度の増加 | 骨格骨化遅延 | 骨減少症 | 骨盤帯骨の形態異常 | 骨盤腎 | 骨粗鬆症 | 高い額 | 高カルシウム尿 | 高カルシウム血症 | 高度遠視 | 高血圧 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:1201169", "label_en": "single peroxisomal enzyme deficiency", "label_ja": "ペルオキシソーム単独欠損症", "yomigana": "ぺるおきしそーむたんどくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201169", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100206", "label_en": "Disease of immune dysregulation", "label_ja": "免疫調節障害", "yomigana": "めんえきちょうせつしょうがい", "url": "http://nanbyodata.jp/ontology/NANDO_2100206", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201051", "label_en": "Secondary central diabetes insipidus", "label_ja": "続発性中枢性尿崩症", "yomigana": "ぞくはつせいちゅうすうせいにょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201051", "notificationNumber": "75", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100117", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200174", "label_en": "Acquired cystic disease of the kidney", "label_ja": "後天性嚢胞性腎疾患", "yomigana": "こうてんせいのうほうせいじんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200174", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200887", "label_en": "Congenital dyserythropoietic anemia type II", "label_ja": "先天性赤血球形成異常性貧血 Type II", "yomigana": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ たいぷ2", "url": "http://nanbyodata.jp/ontology/NANDO_1200887", "notificationNumber": "282", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Anemia of inadequate production | Autosomal recessive inheritance | Childhood onset | Cholelithiasis | Endopolyploidy on chromosome studies of bone marrow | Infantile onset | Jaundice | Juvenile onset | Late onset | Middle age onset | Reduced level of N-acetylglucosaminyltransferase II | Reticulocytosis | Splenomegaly | Young adult onset" ], "symptoms_ja_list": [ "N-acetylglucosaminyltransferase II 活性減少 | 不適切な産生貧血 | 常染色体潜性遺伝 | 網状赤血球増多症 | 胆石症 | 脾腫 | 骨髄染色体検査での内部倍数性 | 黄疸" ] }, { "id": "NANDO:1200070", "label_en": "GM2 gangliosidosis", "label_ja": "GM2ガングリオシドーシス", "yomigana": "じーえむ2がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200070", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200651", "label_en": "Congenital amegakaryocytic thrombocytopenia", "label_ja": "先天性無巨核球性血小板減少症", "yomigana": "せんてんせいむきょかくきゅうせいけっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200651", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100191", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201057", "label_en": "Congenital myasthenic syndrome with episodic apnoea", "label_ja": "発作性無呼吸を伴う先天性筋無力症", "yomigana": "ほっさせいむこきゅうをともなうせんてんせいきんむりょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201057", "notificationNumber": "12", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Apneic episodes precipitated by illness", "fatigue", "stress | Arthrogryposis multiplex congenita | Autosomal recessive inheritance | Bulbar palsy | Congenital onset | Decreased miniature endplate potentials | Dysphagia | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | Fatigable weakness | Generalized hypotonia due to defect at the neuromuscular junction | Neonatal onset | Ophthalmoparesis | Poor suck | Ptosis | Respiratory distress | Respiratory insufficiency due to muscle weakness | Strabismus | Sudden episodic apnea | Type 2 muscle fiber atrophy | Weak cry" ], "symptoms_ja_list": [ "2型筋線維萎縮 | 先天性多発性関節拘縮 | 吸啜不全 | 呼吸窮迫 | 嚥下障害 | 常染色体潜性遺伝 | 弱い泣き声 | 微小終板電位減少 | 斜視 | 球麻痺 | 疲労性虚弱 | 疾病，疲労，ストレスに誘発され無呼吸エピソード | 眼瞼下垂 | 眼筋不全麻痺 | 神経筋接合部障害による全身性筋緊張低下 | 突然無呼吸エピソード | 筋虚弱による呼吸不全 | 筋電図: 反復性刺激への複合筋活動電位 (CMAP) の反応漸減" ] }, { "id": "NANDO:1200067", "label_en": "Infantile GM1 gangliosidosis", "label_ja": "乳児型GM1-ガングリオシドーシス", "yomigana": "にゅうじがたじーえむ1がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200067", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal facial shape | Abnormal heart valve morphology | Abnormal odontoid tissue morphology | Abnormal placenta morphology | Abnormality of the nervous system | Abnormality of the skeletal system | Abnormality of the urinary system | Acetabular dysplasia | Angiokeratoma corporis diffusum | Aspiration pneumonia | Autosomal recessive inheritance | Beaking of vertebral bodies | Beaking of vertebral bodies T12-L3 | Blindness | Broad long bone diaphyses | Broad metacarpals | Broad nasal tip | Cardiomyopathy | Cerebral degeneration | Cherry red spot of the macula | Coarse facial features | Congestive heart failure | Death in infancy | Decreased beta-galactosidase activity | Depressed nasal bridge | Depressed nasal ridge | Developmental regression | Diffuse cerebral atrophy | Diffuse white matter abnormalities | Dilated cardiomyopathy | Dysostosis multiplex | Exaggerated startle response | Feeding difficulties | Flared iliac wing | Flattened femoral head | Floppy infant | Frontal bossing | Gingival overgrowth | Global developmental delay | Hearing impairment | Hepatomegaly | Hepatosplenomegaly | Hirsutism | Hydrops fetalis | Hypertelorism | Hypertonia | Hypertrichosis | Hypertrophic cardiomyopathy | Hypoplastic vertebral bodies | Hypotonia | Infantile onset | Inguinal hernia | Intellectual disability | Intrauterine growth retardation | Joint stiffness | Kyphosis | Large sella turcica | Long philtrum | Low-set ears | Macroglossia | Macrotia | Pectus carinatum | Platyspondyly | Scoliosis | Seizure | Severe short stature | Short long bone | Short neck | Skeletal dysplasia | Spasticity | Spatulate ribs | Splenomegaly | T2 hypointense basal ganglia | Thickened calvaria | Thickened ribs | Thickened skin | Urinary glycosaminoglycan excretion | Vacuolated lymphocytes" ], "symptoms_ja_list": [ "T2 低輝度基底核 | β-ガラクトシダーゼ活性の減少 | うっ血性心不全 | くちばし状T12-L3椎体骨 | くちばし状椎体骨 | はと胸 | びまん性体部被角血管腫 | びまん性大脳萎縮 | びまん性白質異常 | へら状肋骨 | 両眼隔離 | 乳児筋性筋緊張低下 | 側弯 | 全般性発達遅滞 | 分厚い皮膚 | 分厚い頭蓋冠 | 前頭突出", "額突出 | 多毛 | 多毛症 | 多発性異骨症 | 大きなトルコ鞍 | 大耳 | 大脳変性 | 子宮内成長遅滞 | 寛骨臼異形成 | 尿中グリコサミノグリカン排泄 | 尿路異常 | 巨舌 | 常染色体潜性遺伝 | 幅広い中手骨 | 幅広い長管骨骨幹 | 幅広い鼻尖 | 平坦な大腿骨頭 | 後弯 | 心弁の異常 | 心筋症 | 扁平脊椎 | 拡張型心筋症 | 椎体骨低形成 | 歯肉過成長 | 異常な顔の形 | 痙性 | 発作 | 発達退行 | 盲 | 知的障害 | 短い長管骨 | 短い頸部 | 神経系の異常 | 空胞化リンパ球 | 筋緊張亢進 | 筋緊張低下 | 粗な顔貌 | 耳介低位 | 肋骨肥厚 | 肝脾腫 | 肝腫 | 肥大型心筋症 | 胎児水腫 | 胎盤の異常 | 脾腫 | 腸骨翼フレア | 落ちくぼんだ鼻梁 | 誇張された驚愕反応 | 誤嚥性肺炎 | 重度の低身長 | 長い人中 | 関節拘縮 | 難聴 | 食餌摂取障害 | 骨格の異常 | 骨格異形成 | 黄斑のチェリーレッド斑 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200232", "label_en": "Pemphigus vegetans", "label_ja": "増殖性天疱瘡", "yomigana": "ぞうしょくせいてんぽうそう", "url": "http://nanbyodata.jp/ontology/NANDO_1200232", "notificationNumber": "35", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201085", "label_en": "Neonatal-onset N-acetylglutamate synthetase deficiency", "label_ja": "新生児期発症型N-アセチルグルタミン酸合成酵素欠損症", "yomigana": "しんせいじきはっしょうがたえぬあせちるぐるたみんさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201085", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100303", "label_en": "Bilirubin encephalopathy in preterm infants", "label_ja": "早産児ビリルビン脳症", "yomigana": "そうざんじびりるびんのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100303", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201387", "label_en": "ADTKD-UMOD", "label_ja": "ADTKD-UMOD", "yomigana": "えーでぃーてぃーけーでぃーゆーえむおーでぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201387", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100298", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200851", "label_en": "Galactose-1-phosphate uridyltransferase deficiency", "label_ja": "ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症", "yomigana": "がらくとーす1りんさんうりじるとらんすふぇらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200851", "notificationNumber": "258", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormality of coagulation | Abnormality of mental function | Abnormality of the nervous system | Action tremor | Albuminuria | Aminoaciduria | Anxiety | Ascites | Ataxia | Attention deficit hyperactivity disorder | Autistic behavior | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Cataract | Cirrhosis | Clumsiness | Cryptorchidism | Decreased circulating vitamin D concentration | Decreased fertility in females | Decreased liver function | Deficit in grammar | Delayed puberty | Delayed speech and language development | Depression | Diarrhea | Dysarthria | Dystonia | Elevated circulating hepatic transaminase concentration | Encephalopathy | Failure to thrive | Feeding difficulties | Food intolerance | Gait disturbance | Gait imbalance | Galactosuria | Generalized hypotonia | Global developmental delay | Hemolytic anemia | Hepatic failure | Hepatomegaly | Hyperchloremic metabolic acidosis | Hypergalactosemia | Hypergonadotropic hypogonadism | Hypoglycemia | Incoordination | Intellectual disability | Jaundice | Lethargy | Male infertility | Mental deterioration | Metabolic acidosis | Mild intellectual disability | Neonatal onset | Oligomenorrhea | Osteoporosis | Postural tremor | Premature ovarian insufficiency | Primary amenorrhea | Reduced bone mineral density | Secondary amenorrhea | Seizure | Sepsis | Specific learning disability | Speech apraxia | Speech articulation difficulties | Vomiting" ], "symptoms_ja_list": [ "うつ | アミノ酸尿 | アルブミン尿 | ガラクトース尿 | ジストニア | ビタミンD欠乏症 | 下痢 | 不器用 | 不均衡歩行 | 不安 | 二次性無月経 | 代謝性アシドーシス | 低血糖 | 作動振戦 | 停留精巣 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性間代性強直性発作 | 凝固の異常 | 協調運動障害 | 原発性無月経 | 嘔吐 | 女性の妊孕性減少 | 姿勢性振戦 | 希発月経 | 常染色体潜性遺伝 | 思春期遅発 | 成長障害 (成長不全) | 敗血症 | 文法特異的発語異常症 | 早発性卵巣不全 | 構音障害 | 歩行障害 | 注意力欠陥多動性疾患 | 溶血性貧血 | 無気力 | 特異的学習障害 | 男性不妊 | 発作 | 発語および言語発達遅延 | 発語失行症 | 発語調音困難 | 白内障 | 知的障害 | 知的障害", "軽度 | 知能悪化 | 神経系の異常 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝機能低下 | 肝硬変 | 肝腫 | 脳症 | 腹水 | 自閉性行動 | 運動失調 | 食物不耐性 | 食餌摂取障害 | 骨ミネラル濃度減少 | 骨粗鬆症 | 高ガラクトース血症 | 高クロール血症性代謝性アシドーシス | 高ゴナドトロピン性性腺機能低下症 | 高度/補酵素活性異常 | 高次精神機能の異常 | 黄疸" ] }, { "id": "NANDO:1200797", "label_en": "Methylmalonic acidemia CblD type", "label_ja": "コバラミン代謝異常 cblD", "yomigana": "こばらみんたいしゃいじょう しーびーえるでぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200797", "notificationNumber": "246", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of movement | Anorexia | Atypical behavior | Autosomal recessive inheritance | Brisk reflexes | Cerebral cortical atrophy | Childhood onset | Decreased circulating adenosylcobalamin concentration | Decreased circulating methylcobalamin concentration | Decreased methionine synthase activity | Decreased methylmalonyl-CoA mutase activity | Dysmetria | Dystonia | Ectopia lentis | Encephalopathy | Failure to thrive | Fatigue | Feeding difficulties | Gait disturbance | Generalized hypotonia | Global developmental delay | Homocystinuria | Horizontal nystagmus | Hyperhomocystinemia | Hypomethioninemia | Hypotonia | Increased mean corpuscular volume | Infantile onset | Intellectual disability | Lethargy | Megaloblastic anemia | Megaloblastic bone marrow | Methylmalonic acidemia | Methylmalonic aciduria | Moderate intellectual disability | Nystagmus | Pallor | Psychosis | Seizure | Spastic ataxia" ], "symptoms_ja_list": [ "methylmalonyl-CoA mutase 活性の減少 | アデノシルコバラミンの減少 | ジストニア | ホモシスチン尿 | メチオニン合成酵素活性の減少 | メチルコバラミンの減少 | メチルマロン酸尿 | メチルマロン酸血症 | 低メチオニン血症 | 全般性発達遅滞 | 全身性筋緊張低下 | 反射活発 | 大脳皮質萎縮 | 巨大赤血球症 | 巨赤芽球性貧血 | 巨赤芽球性骨髄 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 歩行障害 | 水平性眼振 | 測定障害 | 無気力 | 異所性水晶体 | 疲労 | 痙性失調 | 発作 | 眼振 | 知的障害 | 知的障害", "中道動脈瘤 | 筋緊張低下 | 精神病 | 脳症 | 蒼白 | 行動異常 | 運動の異常 | 食思不振 | 食餌摂取障害 | 高ホモシスチン血症" ] }, { "id": "NANDO:2100250", "label_en": "Multiple sclerosis", "label_ja": "多発性硬化症", "yomigana": "たはつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100250", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200306", "label_en": "Aortic valve stenosis", "label_ja": "大動脈弁狭窄症", "yomigana": "だいどうみゃくべんきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200306", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100105", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201018", "label_en": "Pseudoachondroplasia", "label_ja": "偽性軟骨無形成症", "yomigana": "ぎせいなんこつむけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201018", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal femoral epiphysis morphology | Abnormal ossification involving the femoral head and neck | Abnormal vertebral body morphology | Acetabular dysplasia | Ankle hypermobility | Arthralgia | Atlantoaxial dislocation | Autosomal dominant inheritance | Beaking of vertebral bodies | Brachydactyly | Carpal bone hypoplasia | Cervical cord compression | Cervical spine instability | Childhood onset short-limb short stature | Cone-shaped epiphysis | Delayed epiphyseal ossification | Disproportionate short-limb short stature | Flared femoral metaphysis | Flared metaphysis | Flat acetabular roof | Fragmented epiphyses | Fragmented", "irregular epiphyses | Generalized joint hypermobility | Genu recurvatum | Genu valgum | Genu varum | Hypoplasia of the capital femoral epiphysis | Hypoplasia of the odontoid process | Hypoplastic pelvis | Increased laxity of fingers | Intellectual disability | Irregular acetabular roof | Irregular carpal bones | Irregular epiphyses | Joint hypermobility | Joint stiffness | Kyphosis | Limb undergrowth | Limited elbow extension | Limited hip extension | Limited shoulder movement | Lumbar hyperlordosis | Metaphyseal irregularity | Metaphyseal widening | Osteoarthritis | Platyspondyly | Radial metaphyseal irregularity | Scoliosis | Sensory neuropathy | Short distal phalanx of finger | Short femoral neck | Short long bone | Short metacarpal | Short phalanx of finger | Shortening of all metacarpals | Skeletal myopathy | Small epiphyses | Small epiphyses of the phalanges of the hand | Spatulate ribs | Ulnar deviation of the hand | Ulnar deviation of the wrist | Ulnar metaphyseal irregularity | Waddling gait | Wind-swept deformity of the knees" ], "symptoms_ja_list": [ "くちばし状椎体骨 | へら状肋骨 | よたつき歩行 | 不均衡型短肢低身長 | 不規則な寛骨臼蓋 | 不規則な尺骨骨幹端 | 不規則な手根骨 | 不規則な橈骨骨幹端 | 不規則な骨端 | 側弯 | 全中手骨短縮 | 全身性関節弛緩 | 内反膝 | 円錐骨端 | 反張膝 | 四肢成長不全 | 外反膝 | 大腿骨頭および頸部の骨化異常 | 大腿骨骨幹端フレア | 大腿骨骨端の異常 | 大腿骨骨頭骨端低形成 | 寛骨臼異形成 | 小さい手の指骨骨端 | 小さい骨端 | 小児期発症短肢低身長 | 常染色体顕性遺伝 | 平坦な寛骨臼蓋 | 後弯 | 感覚ニューロパチー | 扁平脊椎 | 手の尺側偏位 | 手根骨低形成 | 手関節の尺側偏位 | 指関節弛緩性増加 | 断片化した不規則な骨端 | 椎体骨形態異常 | 歯状突起低形成 | 環軸椎脱臼 | 知的障害 | 短い中手骨 | 短い大腿骨頸部 | 短い指末節骨 | 短い指骨 | 短い長管骨 | 短指症候群 | 肘伸展制限 | 股関節伸展制限 | 肩運動制限 | 腰椎前弯 hyperlordosis | 膝の風邪になびく変形 | 足関節弛緩性増加 | 関節拘縮 | 関節痛 | 関節過動 | 頚椎不安定 | 頚髄圧迫 | 骨幹端フレア | 骨幹端不規則性 | 骨幹端拡大 | 骨格筋ミオパチー | 骨盤低形成 | 骨端の断片化 | 骨端骨化遅延 | 骨関節炎" ] }, { "id": "NANDO:2201396", "label_en": "Congenital disorders of glycosylation", "label_ja": "先天性グリコシル化異常症", "yomigana": "せんてんせいぐりこしるかいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201396", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100301", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201454", "label_en": "Generalized juvenile polyposis", "label_ja": "全消化管型若年性ポリポーシス", "yomigana": "ぜんしょうかかんがたじゃくねんせいぽりぽーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201454", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100257", "symptoms_en_list": [ "Abnormal bleeding | Adenomatous colonic polyposis | Anemia | Anemic pallor | Duodenal polyposis | Edema | Growth delay | Hematochezia | Multiple gastric polyps | Rectal polyposis" ], "symptoms_ja_list": [ "十二指腸ポリープ症 | 多発性胃ポリープ | 成長遅滞 | 浮腫 | 異常な出血 | 直腸ポリープ症 | 腺腫性結腸ポリープ症 | 血便排泄 | 貧血 | 貧血性蒼白" ] }, { "id": "NANDO:2200828", "label_en": "Gorlin syndrome", "label_ja": "ゴーリン症候群", "yomigana": "ごーりんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200828", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100220", "symptoms_en_list": [ "Abnormal rib morphology | Abnormal vertebral morphology | Abnormality of the neck | Abnormality of the sense of smell | Anterior rib cupping | Arachnodactyly | Basal cell carcinoma | Bifid ribs | Brachycephaly | Brachydactyly | Bridged sella turcica | Calcification of falx cerebri | Cardiac fibroma | Carious teeth | Cataract | Cerebral calcification | Coarse facial features | Cryptorchidism | Epicanthus | Frontal bossing | Glaucoma | Hemivertebrae | Hydrocephalus | Hypertelorism | Hypogonadotropic hypogonadism | Intellectual disability | Iris coloboma | Macrocephaly | Mandibular prognathia | Medulloblastoma | Melanocytic nevus | Meningioma | Neoplasm | Odontogenic keratocysts of the jaw | Orofacial cleft | Ovarian fibroma | Palmar pits | Plantar pits | Rib fusion | Scoliosis | Strabismus | Telecanthus | Vertebral fusion | Vertebral wedging | Wide nasal bridge" ], "symptoms_ja_list": [ "くも指 | コロボーマ | トルコ鞍架橋 | メラニン細胞母斑 | 下顎突出 | 両眼隔離 | 二分した肋骨 | 低ゴナドトロピン性性腺機能低下症 | 停留精巣 | 側弯 | 内眼角外方偏位 | 内眼角贅皮 | 前方肋骨カッピング | 前頭突出", "額突出 | 半脊椎 | 卵巣線維腫 | 口腔裂 | 嗅覚の異常 | 基底細胞癌 | 大脳石灰化 | 大脳鎌石灰化 | 大頭 | 幅広い鼻梁 | 心線維腫 | 手掌小孔 | 斜視 | 新生物 | 楔状脊椎骨 | 水頭症 | 白内障 | 知的障害 | 短指症候群 | 短頭 | 粗な顔貌 | 緑内障 | 肋骨の異常 | 肋骨癒合 | 脊椎の異常 | 脊椎骨癒合 | 角化嚢胞性歯源性腫瘍 | 足底小孔 | 頸部の異常 | 髄膜腫 | 髄芽腫 | 齲歯" ] }, { "id": "NANDO:1201012", "label_en": "Monocyclic adult onset Still's disease", "label_ja": "単周期性全身型成人スチル病", "yomigana": "たんしゅうきせいぜんしんがたせいじんすちるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201012", "notificationNumber": "54", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200031", "label_en": "Multifocal motor neuropathy", "label_ja": "多巣性運動ニューロパチー", "yomigana": "たそうせいうんどうにゅーろぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200031", "notificationNumber": "14", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Diminished deep tendon reflex | Fasciculations | Functional motor deficit | Ganglioside accumulation | Increased CSF protein concentration | Limb muscle weakness | Limited wrist extension | Motor conduction block | Muscle spasm | Progressive distal muscle weakness | Progressive muscle weakness | Weakness of long finger extensor muscles" ], "symptoms_ja_list": [ "ガングリオシド代謝の異常 | 四肢筋虚弱 | 手関節伸展制限 | 機能的筋異常 | 筋けいれん | 線維束性収縮 | 腱反射減少 | 進行性筋虚弱 | 進行性遠位筋虚弱 | 運動性伝導ブロック | 長指伸展筋虚弱 | 髄液タンパクの増加" ] }, { "id": "NANDO:2200123", "label_en": "Membranoproliferative glomerulonephritis", "label_ja": "膜性増殖性糸球体腎炎", "yomigana": "まくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200123", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [ "Abnormal thrombosis | Acute kidney injury | Chronic kidney disease | Decreased circulating complement C3 concentration | Drusen | Glomerular subendothelial electron-dense deposits | Hypertension | Hypoalbuminemia | Membranoproliferative glomerulonephritis | Microscopic hematuria | Myocardial infarction | Nephrotic syndrome | Proteinuria | Renal insufficiency | Stage 5 chronic kidney disease" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | デンスデポジット糸球体腎炎", "密沈積症 | ドルーゼ (結晶腔; 晶洞; 脈絡膜硝子肬) | ネフローゼ症候群 | 心筋梗塞 | 急性腎外傷 | 慢性腎疾患 | 異常な血栓症 | 腎不全 | 膜性増殖性糸球体腎炎 | 蛋白尿 | 血清補体 C3減少 | 顕微血尿 | 高アルブミン血症 | 高血圧" ] }, { "id": "NANDO:2200923", "label_en": "Autoimmune enteropathy", "label_ja": "自己免疫性腸症", "yomigana": "じこめんえきせいちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200923", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100260", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200209", "label_en": "Systemic amyloidosis", "label_ja": "全身性アミロイドーシス", "yomigana": "ぜんしんせいあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200209", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201331", "label_en": "Antley-Bixler syndrome (sagittal synostosis)", "label_ja": "アントレー・ビクスラー症候群（矢状縫合）", "yomigana": "あんとれー・びくすらーしょうこうぐん（しじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201331", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200902", "label_en": "Chronic nonspecific multiple ulcers of the small intestine", "label_ja": "非特異性多発性小腸潰瘍症", "yomigana": "ひとくいせいたはつせいしょうちょうかいようしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200902", "notificationNumber": "290", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100239", "label_en": "Alternating hemiplegia of childhood", "label_ja": "小児交互性片麻痺", "yomigana": "しょうにこうごせいかたまひ", "url": "http://nanbyodata.jp/ontology/NANDO_2100239", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200205", "label_en": "Cystic fibrosis", "label_ja": "嚢胞性線維症", "yomigana": "のうほうせいせんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200205", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100035", "symptoms_en_list": [ "Abnormality of the liver | Absent vas deferens | Airway obstruction | Anxiety | Asthma | Autosomal recessive inheritance | Biliary cirrhosis | Bronchiectasis | Childhood onset | Chronic lung disease | Chronic sinusitis | Cirrhosis | Clubbing of fingers | Cor pulmonale | Dehydration | Depression | Diarrhea | Elevated circulating hepatic transaminase concentration | Elevated sweat chloride | Exocrine pancreatic insufficiency | Failure to thrive | Gastroesophageal reflux | Hearing impairment | Hemoptysis | Hepatomegaly | Hepatosplenomegaly | Hypercalciuria | Ileus | Infantile onset | Kidney stone | Malabsorption | Male infertility | Meconium ileus | Nasal polyposis | Osteopenia | Osteoporosis | Pancreatitis | Pneumothorax | Rectal prolapse | Recurrent Aspergillus infection | Recurrent Burkholderia cepacia infection | Recurrent Haemophilus influenzae infection | Recurrent Staphylococcus aureus infection | Recurrent bronchopulmonary infections | Recurrent lower respiratory tract infections | Recurrent pneumonia | Recurrent respiratory infections | Sinusitis | Steatorrhea" ], "symptoms_ja_list": [ "うつ | ばち指 | イレウス | メコニウム・イレウス | 下痢 | 不安 | 副鼻腔炎 | 反復性アスペルギルス感染症 | 反復性インフルエンザ菌感染症 | 反復性セパシア菌感染症 | 反復性下気道感染症 | 反復性呼吸器感染症 | 反復性気管支肺感染症 | 反復性肺炎 | 反復性黄色ブドウ球菌感染症 | 吸収障害 | 喀血 | 喘息 | 外分泌性膵不全 | 常染色体潜性遺伝 | 慢性副鼻腔炎 | 慢性肺疾患 | 成長障害 (成長不全) | 気管支拡張 | 気胸 | 汗中クロール上昇 | 男性不妊 | 直腸逸脱 | 肝の異常 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝脾腫 | 肝腫 | 肺性心 | 胃食道逆流 | 胆汁性肝硬変 | 脂肪便 | 脱水 | 腎結石 | 膵炎 | 輸精管欠損 | 閉塞性肺疾患 | 難聴 | 骨減少症 | 骨粗鬆症 | 高カルシウム尿 | 鼻ポリープ症" ] }, { "id": "NANDO:2200932", "label_en": "Non-syndromic paucity of intrahepatic bile duct", "label_ja": "肝内胆管減少症", "yomigana": "かんないたんかんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200932", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200247", "label_en": "Angina pectoris", "label_ja": "狭心症", "yomigana": "きょうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200247", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100070", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100038", "label_en": "Chronic lung disease", "label_ja": "慢性肺疾患", "yomigana": "まんせいはいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100038", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200413", "label_en": "Noonan syndrome", "label_ja": "ヌーナン症候群", "yomigana": "ぬーなんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200413", "notificationNumber": "89", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100150", "symptoms_en_list": [ "Abnormal EKG | Abnormal bleeding | Abnormal cardiovascular system morphology | Abnormal dermatoglyphics | Abnormal hair quantity | Abnormal platelet function | Abnormal pulmonary valve morphology | Abnormal speech pattern | Abnormality of coagulation | Abnormality of the genital system | Abnormality of the lymphatic system | Abnormality of the spleen | Aplasia of the semicircular canal | Aplasia/Hypoplasia of the abdominal wall musculature | Arrhythmia | Atrial septal defect | Blue irides | Brachydactyly | Bruising susceptibility | Clinodactyly of the 5th finger | Coarctation of aorta | Coarse hair | Cryptorchidism | Cystic hygroma | Delayed menarche | Delayed skeletal maturation | Dilatation of the renal pelvis | Downslanted palpebral fissures | Dysarthria | Enlarged thorax | Feeding difficulties in infancy | Hepatomegaly | High forehead | High palate | Hypertelorism | Hypertrophic cardiomyopathy | Hypogonadotropic hypogonadism | Hypotonia | Intellectual disability | Joint hypermobility | Juvenile myelomonocytic leukemia | Low posterior hairline | Lymphedema | Melanocytic nevus | Micrognathia | Midface retrusion | Muscle weakness | Neurodevelopmental delay | Nystagmus | Osteopenia | Patent ductus arteriosus | Pectus carinatum | Pectus excavatum | Posteriorly rotated ears | Postnatal growth retardation | Proptosis | Ptosis | Pulmonary artery stenosis | Radioulnar synostosis | Scoliosis | Sensorineural hearing impairment | Short stature | Specific learning disability | Strabismus | Thick lower lip vermilion | Thickened helices | Thickened nuchal skin fold | Triangular face | Webbed neck | Wide intermamillary distance" ], "symptoms_ja_list": [ "はと胸 | メラニン細胞母斑 | リンパ性浮腫 | リンパ系の異常 | 三半規管無形成 | 三角形の顔 | 不整脈 | 両眼隔離 | 低ゴナドトロピン性性腺機能低下症 | 低身長 | 停留精巣 | 側弯 | 凝固の異常 | 出血傾向 | 分厚い下口唇唇紅部 | 分厚い後部皮膚ヒダ | 分厚い耳輪 | 初潮遅延 | 動脈管開存症 | 大動脈縮窄 | 小顎 | 幅広い乳頭間距離 | 後部毛髪線低位 | 循環器系の形態異常 | 心房中隔欠損 | 心電図異常 | 性器異常 | 感音難聴 | 斜視 | 構音障害 | 橈尺骨癒合 | 水滑性嚢腫 | 漏斗胸 | 特異的学習障害 | 生後の成長遅滞 | 異常な出血 | 異常な毛髪量 | 異常な皮膚紋理 | 眼振 | 眼球突出 | 眼瞼下垂 | 眼瞼裂斜下 | 知的障害 | 短指症候群 | 神経学的発語障害 | 神経発生遅延 | 第5指弯指 | 筋緊張低下 | 筋虚弱 | 粗い毛髪 | 翼状頚 | 耳介後方回転 | 肝腫 | 肥大型心筋症 | 肺動脈弁の異常 | 肺動脈狭窄 | 胸郭拡大 | 脾の異常 | 腎盂拡張 | 腹壁筋無形成/低形成 | 若年性骨髄単球性白血病 | 血小板機能の異常 | 関節過動 | 青色虹彩 | 顔面中部後退 | 食餌摂取障害 in infancy | 骨格骨化遅延 | 骨減少症 | 高い額 | 高口蓋" ] }, { "id": "NANDO:2100307", "label_en": "Hereditary hyperkalemic periodic paralysis", "label_ja": "遺伝性周期性四肢麻痺", "yomigana": "いでんせいしゅうきせいししまひ", "url": "http://nanbyodata.jp/ontology/NANDO_2100307", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200288", "label_en": "Hypertrophic obstructive cardiomyopathy", "label_ja": "閉塞性肥大型心筋症", "yomigana": "へいそくせいひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200288", "notificationNumber": "58", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200763", "label_en": "Rhizomelic chondrodysplasia punctata type 1", "label_ja": "根性点状軟骨異形成症1型", "yomigana": "こんじょうてんじょうなんこついけいせいしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200763", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Alopecia | Autosomal recessive inheritance | Calcific stippling of infantile cartilaginous skeleton | Cerebral cortical atrophy | Cleft palate | Coronal cleft vertebrae | Delayed CNS myelination | Depressed nasal bridge | Developmental cataract | Elevated circulating phytanic acid concentration | Epiphyseal stippling | Flared metaphysis | Flat face | Flexion contracture | Frontal bossing | Ichthyosis | Intellectual disability | Kyphoscoliosis | Malar flattening | Microcephaly | Micrognathia | Respiratory insufficiency | Rhizomelia | Seizure | Sensorineural hearing impairment | Severe failure to thrive | Severe short stature | Spasticity | Upslanted palpebral fissure" ], "symptoms_ja_list": [ "フィタン酸値上昇 | 中枢神経髄鞘形成遅延 | 乳児軟骨骨格の点状石灰化 | 先天性白内障 | 冠状脊椎裂 | 前頭突出", "額突出 | 口蓋裂 | 呼吸不全 | 四肢近位短縮 | 大脳皮質萎縮 | 小頭 | 小顎 | 屈曲拘縮 | 常染色体潜性遺伝 | 平坦な頬 | 平坦な顔 | 後側弯 | 感音難聴 | 痙性 | 発作 | 眼瞼裂斜上 | 知的障害 | 禿頭 | 落ちくぼんだ鼻梁 | 重度の低身長 | 重度の成長障害 (成長不全) | 骨幹端フレア | 骨端点状石灰化 | 魚鱗癬" ] }, { "id": "NANDO:1200349", "label_en": "Transient hypogammaglobulinemia of infancy with normal numbers of B cells", "label_ja": "乳児一過性低ガンマグロブリン血症", "yomigana": "にゅうじいっかせいていがんまぐろぶりんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200349", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200938", "label_en": "X-linked juvenile retinoschisis", "label_ja": "X連鎖性若年網膜分離症", "yomigana": "えっくすれんさせいじゃくねんもうまくぶんりしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200938", "notificationNumber": "301", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal electroretinogram | Abnormal foveal morphology | Abnormality of eye movement | Abnormality of vision | ERG: Reduced dark-adapted b-wave amplitude | Glaucoma | Hypermetropia | Macular atrophy | Nyctalopia | Peripheral cystoid retinal degeneration | Progressive visual loss | Retinal atrophy | Retinal degeneration | Retinal detachment | Retinal pigment epithelial atrophy | Strabismus | Vitreous hemorrhage | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | b-波振幅減少 (ERG) | 中心窩の異常 | 嚢胞性網膜変性 | 夜盲症 | 斜視 | 眼運動の異常 | 硝子体出血 | 網膜剥離 | 網膜変性 | 網膜色素上皮喪失 | 網膜萎縮 | 網膜電図異常 | 緑内障 | 視覚の異常 | 進行性視力喪失 | 遠視 | 非炎症性黄斑萎縮" ] }, { "id": "NANDO:2201428", "label_en": "Thanatophoric dysplasia type 2", "label_ja": "タナトフォリック骨異形成症2型", "yomigana": "たなとふぉりっくこついけいせいしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201428", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal metaphysis morphology | Abnormality of neuronal migration | Abnormality of the kidney | Acanthosis nigricans | Aplasia/Hypoplasia of the lungs | Atrial septal defect | Autosomal dominant inheritance | Brachydactyly | Cerebellar hypoplasia | Cloverleaf skull | Cognitive impairment | Decreased fetal movement | Depressed nasal bridge | Encephalocele | Flared metaphysis | Flat face | Frontal bossing | Hearing impairment | Holoprosencephaly | Hydrocephalus | Hypoplastic ilia | Hypotonia | Increased nuchal translucency | Joint hypermobility | Kyphosis | Lethal short-limbed short stature | Limitation of joint mobility | Macrocephaly | Metaphyseal irregularity | Micromelia | Narrow chest | Neonatal death | Patent ductus arteriosus | Platyspondyly | Polyhydramnios | Proptosis | Redundant skin | Respiratory insufficiency | Seizure | Short greater sciatic notch | Short ribs | Short stature | Short thorax | Skeletal dysplasia | Small abnormally formed scapulae | Small face | Small foramen magnum | Ventriculomegaly | Wide-cupped costochondral junctions" ], "symptoms_ja_list": [ "クローバー型頭蓋骨 | ニューロン移動の異常 | 低身長 | 全前脳胞症 | 前頭突出", "額突出 | 動脈管開存症 | 呼吸不全 | 大頭 | 小さい仙腸骨切痕 | 小さい大孔 | 小さい顔 | 小さな異常形成された肩甲骨 | 小肢症 | 小脳低形成 | 常染色体顕性遺伝 | 幅広い-杯状の肋軟骨接合部 | 平坦な顔 | 後弯 | 心房中隔欠損 | 扁平脊椎 | 水頭症 | 狭い胸郭 | 発作 | 眼球突出 | 短い肋骨 | 短い胸郭 | 短指症候群 | 筋緊張低下 | 羊水過多 | 肺無形成/低形成 | 胎動減少 | 脳室拡大 | 脳瘤 | 腎異常 | 腸骨低形成 | 致死性短肢低身長 | 落ちくぼんだ鼻梁 | 認知障害 | 過剰な皮膚 | 関節運動制限 | 関節過動 | 難聴 | 項部透過性増加 | 骨幹端の異常 | 骨幹端フレア | 骨幹端不規則性 | 骨格異形成 | 黒色表皮腫" ] }, { "id": "NANDO:1200692", "label_en": "Fragile X syndrome", "label_ja": "脆弱X症候群", "yomigana": "ぜいじゃくえっくすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200692", "notificationNumber": "206", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal head movements | Abnormal speech pattern | Anxiety | Ascending tubular aorta aneurysm | Attention deficit hyperactivity disorder | Autism | Cerebral cortical atrophy | Childhood onset | Chronic otitis media | Coarse facial features | Congenital macroorchidism | Delayed gross motor development | Delayed speech and language development | Folate-dependent fragile site at Xq28 | Frontal bossing | Gastroesophageal reflux | Hyperactivity | Hypotonia | Irritability | Joint hypermobility | Large forehead | Long face | Macrocephaly | Macroorchidism | Macroorchidism", "postpubertal | Macrotia | Mandibular prognathia | Metacarpophalangeal joint hyperextensibility | Mitral valve prolapse | Moderate intellectual disability | Narrow face | Otitis media | Pectus excavatum | Periventricular heterotopia | Pes planus | Protruding ear | Recurrent hand flapping | Reduced eye contact | Scoliosis | Seizure | Self-biting | Self-injurious behavior | Sinusitis | Sleep disturbance | Strabismus | Typified by incomplete penetrance | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | 上行大動脈拡張 | 下顎突出 | 不安 | 中手骨指骨(MP)関節過伸展 | 中耳炎 | 側弯 | 僧帽弁逸脱 | 先天性巨大精巣 | 前頭突出", "額突出 | 副鼻腔炎 | 反復性の手 | 多動 | 大きな額 | 大耳 | 大脳皮質萎縮 | 大頭 | 巨大精巣 | 巨大精巣", "思春期後 | 慢性中耳炎 | 扁平足 | 斜視 | 注意力欠陥多動性疾患 | 漏斗胸 | 狭い顔 | 異常な頭部運動 | 発作 | 発語および言語発達遅延 | 眼があわない | 睡眠障害 | 知的障害", "中道動脈瘤 | 神経学的発語障害 | 筋緊張低下 | 粗な顔貌 | 粗大運動発達遅延 | 耳介聳立 | 胃食道逆流 | 脳室周囲異所性灰白質 | 自傷行動 | 自咬症 | 自閉症 | 葉酸欠乏性脆弱部位 (Xq28) | 被刺激性 | 長い顔 | 関節過動" ] }, { "id": "NANDO:2200626", "label_en": "Thalassemia", "label_ja": "サラセミア", "yomigana": "さらせみあ", "url": "http://nanbyodata.jp/ontology/NANDO_2200626", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200705", "label_en": "Hypoplastic left heart syndrome", "label_ja": "左心低形成症候群", "yomigana": "さしんていけいせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200705", "notificationNumber": "211", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormality of chromosome segregation | Atrial septal defect | Hypoplastic aortic arch | Hypoplastic left ventricle | Maternal diabetes | Mitral atresia | Mitral stenosis | Patent ductus arteriosus" ], "symptoms_ja_list": [ "僧帽弁狭窄 | 僧帽弁閉鎖 | 動脈管開存症 | 大動脈弓低形成 | 左心低形成 | 心房中隔欠損 | 染色体分離の異常 | 母体糖尿病" ] }, { "id": "NANDO:2201267", "label_en": "Porphyria cutanea tarda", "label_ja": "晩発性皮膚ポルフィリン症", "yomigana": "ばんはつせいひふぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201267", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100173", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal circulating enzyme concentration or activity | Abnormal circulating porphyrin concentration | Chronic hepatitis | Corneal scarring | Cutaneous photosensitivity | Diabetes mellitus | Ectropion | Elevated circulating hepatic transaminase concentration | Elevated circulating iron concentration | Elevated hepatic iron concentration | Fragile skin | Hematological neoplasm | Hepatic steatosis | Hepatocellular carcinoma | Hirsutism | Hyperpigmentation of the skin | Hypertrichosis | Hypopigmentation of the skin | Increased circulating ferritin concentration | Increased urinary porphobilinogen | Pain | Periportal fibrosis | Poor wound healing | Porphyrinuria | Recurrent bacterial skin infections | Scarring | Stage 5 chronic kidney disease | Systemic lupus erythematosus | Viral hepatitis" ], "symptoms_ja_list": [ "ウイルス性肝炎 | ステージ5慢性腎疾患 | ヘム生合成経路の異常 | ポルフィリン尿 | 傷治癒不全 | 全身性紅斑性狼瘡 | 反復性細菌性皮膚感染症 | 外反(眼瞼) | 多毛 | 多毛症 | 尿中ポルホビリノーゲン増加 | 慢性肝炎 | 異常な皮膚水泡 | 疼痛 | 瘢痕 | 皮膚低色素 | 皮膚光線過敏症 | 皮膚高色素 | 糖尿病 | 肝の鉄濃度上昇 | 肝トランスアミナーゼ上昇 | 肝細胞癌 | 脂肪肝 | 脆い皮膚 | 血液学的新生物 | 血清フェリチン増加 | 血清鉄増加 | 角膜瘢痕 | 門脈周囲線維症 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2200942", "label_en": "Hereditary pancreatitis", "label_ja": "遺伝性膵炎", "yomigana": "いでんせいすいえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200942", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100273", "symptoms_en_list": [ "Abdominal pain | Abnormal circulating enzyme concentration or activity | Abnormal thrombosis | Autosomal dominant inheritance | Diabetes mellitus | Elevated circulating C-reactive protein concentration | Exocrine pancreatic insufficiency | Fever | Increased total leukocyte count | Jaundice | Pancreatic calcification | Pancreatic pseudocyst | Pancreatitis | Pleural effusion | Recurrent pancreatitis | Steatorrhea" ], "symptoms_ja_list": [ "CRP 上昇 | 反復性膵炎 | 外分泌性膵不全 | 常染色体顕性遺伝 | 異常な血栓症 | 発熱 | 白血球増多症 | 石灰化 | 糖尿病 | 胸膜滲出液 | 脂肪便 | 腹痛 | 膵偽嚢胞 | 膵炎 | 高度/補酵素活性異常 | 黄疸" ] }, { "id": "NANDO:1200352", "label_en": "Autoimmune lymphoproliferative syndrome", "label_ja": "自己免疫性リンパ増殖症候群", "yomigana": "じこめんえきせいりんぱぞうしょくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200352", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal bleeding | Abnormal circulating interleukin concentration | Antineutrophil antibody positivity | Antinuclear antibody positivity | Antiphospholipid antibody positivity | Arthritis | Autoimmune hemolytic anemia | Autoimmune neutropenia | Autoimmune thrombocytopenia | Autoimmunity | B-cell lymphoma | Basal cell carcinoma | Bone marrow hypocellularity | Bruising susceptibility | Chronic noninfectious lymphadenopathy | Colitis | Coombs-positive hemolytic anemia | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased specific anti-polysaccharide antibody concentration | Decreased total lymphocyte count | Fibroadenoma of the breast | Gastritis | Glomerulonephritis | Headache | Hepatitis | Hepatocellular carcinoma | Hepatomegaly | Hodgkin lymphoma | Hydrops fetalis | Hypersplenism | Increased circulating IgA concentration | Increased circulating IgE concentration | Increased circulating IgG concentration | Increased circulating immunoglobulin concentration | Increased double-negative T cell number | Increased total B cell count | Increased total eosinophil count | Increased total lymphocyte count | Lymphadenopathy | Neoplasm of the skin | Neoplasm of the tongue | Non-Hodgkin lymphoma | Panniculitis | Premature ovarian insufficiency | Pulmonary fibrosis | Pulmonary infiltrates | Recurrent aphthous stomatitis | Renal insufficiency | Reticulocytosis | Rheumatoid factor positive | Seizure | Splenomegaly | Systemic lupus erythematosus | T-cell lymphoma | Thyroid adenoma | Thyroid carcinoma | Thyroiditis | Urticaria | Uveitis | Vasculitis" ], "symptoms_ja_list": [ "B 細胞数増加 | B-細胞リンパ腫 | Coombs 陽性溶血性貧血 | Hodgkin リンパ腫 | IgA 値増加 | IgE 値増加 | IgG 値増加 | IgG欠乏症 | IgM欠乏症 | T-細胞リンパ腫 | α/β T-細胞受容体を発現するCD4-/CD8- T 細胞の増加 | インターロイキン分泌の異常 | ブドウ膜炎 | リウマチ因子陽性 | リンパ球増多症 | リンパ球減少症 | リンパ節腫大 | 乳房線維腫 | 全身性紅斑性狼瘡 | 出血傾向 | 反復性アフタ性口内炎 | 基底細胞癌 | 好酸球増多症 | 慢性非感染性リンパ節腫大; | 抗リン脂質抗体陽性 | 抗好中球抗体陽性 | 抗核抗体陽性 | 早発性卵巣不全 | 特異的抗多糖類抗体欠乏症 | 甲状腺炎 | 甲状腺癌 | 甲状腺腺腫 | 異常な出血 | 発作 | 皮膚新生物 | 糸球体腎炎 | 結腸炎 | 網状赤血球増多症 | 肝炎 | 肝細胞癌 | 肝腫 | 肺浸潤 | 肺線維症 | 胃炎 | 胎児水腫 | 脂肪織炎 | 脾機能亢進 | 脾腫 | 腎不全 | 自己免疫 | 自己免疫性好中球減少症 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 舌新生物 | 蕁麻疹 | 血管炎 | 関節炎 | 非Hodgkin リンパ腫 | 頭痛 | 骨髄細胞数増多 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2100187", "label_en": "Familial polycythemia", "label_ja": "家族性赤血球増加症", "yomigana": "かぞくせいせっけっきゅうぞうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100187", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200747", "label_en": "Other congenital defects of neutrophil function", "label_ja": "35及び36に掲げるもののほか、慢性の経過をたどる好中球減少症", "yomigana": "35および36にかかげるもののほか、まんせいのけいかをたどるこうちゅうきゅうげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200747", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200508", "label_en": "Organic cation transporter 2 deficiency", "label_ja": "全身性カルニチン欠損症", "yomigana": "ぜんしんせいかるにちんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200508", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Acute encephalopathy | Autosomal recessive inheritance | Bilateral tonic-clonic seizure with focal onset | Cardiomegaly | Cardiomyopathy | Childhood onset | Clumsiness | Coma | Confusion | Congestive heart failure | Decreased circulating carnitine concentration | Dehydration | Diarrhea | Dicarboxylic aciduria | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Encephalopathy | Endocardial fibroelastosis | Excessive daytime somnolence | Failure to thrive | Generalized hypotonia | Global developmental delay | Hepatomegaly | Hyperammonemia | Hypertrophic cardiomyopathy | Hypotonia | Impaired gluconeogenesis | Ketosis | Lethargy | Microvesicular hepatic steatosis | Mitral regurgitation | Muscle weakness | Myopathy | Neck muscle weakness | Proximal muscle weakness | Recurrent hypoglycemia | Respiratory distress | Vomiting" ], "symptoms_ja_list": [ "うっ血性心不全 | ケトン症 | ジカルボン酸尿 | ミオパチー | 下痢 | 不器用 | 両側性けいれん発作 | 僧帽弁逆流 | 全般性発達遅滞 | 全身性筋緊張低下 | 反復性低血糖 | 呼吸窮迫 | 嗜眠 | 嘔吐 | 小血管脂肪肝 | 常染色体潜性遺伝 | 心内膜線維弾性症 | 心拡大 | 心筋症 | 急性脳症 | 成長障害 (成長不全) | 昏睡 | 無気力 | 筋緊張低下 | 筋虚弱 | 糖新生障害 | 肝トランスアミナーゼ上昇 | 肝腫 | 肥大型心筋症 | 脱水 | 脳症 | 血清 creatine phosphokinase上昇 | 血漿カルニチン減少 | 近位筋虚弱 | 錯乱 | 頸部筋虚弱 | 高アンモニア血症" ] }, { "id": "NANDO:2201323", "label_en": "Other multiple sclerosis", "label_ja": "多発性硬化症（その他）", "yomigana": "たはつせいこうかしょう（そのた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201323", "notificationNumber": "62", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100250", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200922", "label_en": "Early-onset inflammatory bowel disease", "label_ja": "早期発症型炎症性腸疾患", "yomigana": "そうきはっしょうがたえんしょうせいちょうしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200922", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100259", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200398", "label_en": "3-β-Hydroxysteroid dehydrogenase deficiency", "label_ja": "3β−水酸化ステロイド脱水素酵素欠損症", "yomigana": "3べーたすいさんかすてろいどだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200398", "notificationNumber": "81", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal labia majora morphology | Absent scrotum | Adrenal hyperplasia | Adrenal insufficiency | Adrenocorticotropic hormone excess | Ambiguous genitalia | Ambiguous genitalia", "female | Ambiguous genitalia", "male | Autosomal recessive inheritance | Azoospermia | Bifid scrotum | Clitoral hypertrophy | Congenital adrenal hyperplasia | Congenital onset | Cryptorchidism | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Decreased fertility in males | Decreased testicular size | Dehydration | Failure to thrive | Female external genitalia in individual with 46", "XY karyotype | Global developmental delay | Gynecomastia | Hirsutism | Hyperkalemia | Hyperpigmentation of the skin | Hyponatremia | Hypospadias | Hypotension | Increased circulating renin concentration | Male pseudohermaphroditism | Micropenis | Neonatal asphyxia | Neonatal hypoglycemia | Penoscrotal hypospadias | Perineal hypospadias | Premature adrenarche | Premature pubarche | Renal salt wasting | Scrotal hypospadias | Vomiting" ], "symptoms_ja_list": [ "46", "XY核型での女性外性器 | 二分陰嚢 | 会陰尿道下裂 | 低アルドステロン症 | 低ナトリウム血症 | 低血圧 | 停留精巣 | 先天性副腎過形成 | 全般性発達遅滞 | 副腎不全 | 副腎皮質刺激ホルモン過剰 | 副腎皮質性思春期早発 | 副腎過形成 | 嘔吐 | 多毛 | 大陰唇異常 | 女性型乳房 | 小陰茎 | 尿道下裂 | 常染色体潜性遺伝 | 循環性コルチゾール値減少 | 循環性レニン値増加 | 性別不明の外性器 | 性別不明の外性器", "女性 | 性別不明の外性器", "男性 | 恥毛早発 | 成長障害 (成長不全) | 新生児仮死 | 新生児低血糖 | 無精子症 | 男性の妊孕性減少 | 男性仮性半陰陽 | 皮膚高色素 | 精巣サイズ減少 | 脱水 | 腎性塩類喪失 | 陰嚢尿道下裂 | 陰嚢欠損 | 陰核肥大 | 陰茎陰嚢尿道下裂 | 高カリウム血症" ] }, { "id": "NANDO:2200200", "label_en": "Congenital alveolar proteinosis", "label_ja": "先天性肺胞蛋白症", "yomigana": "せんてんせいはいほうたんぱくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200200", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100033", "symptoms_en_list": [ "Abnormal circulating protein concentration | Acute infectious pneumonia | Cough | Failure to thrive in infancy | Foam cells | Hypoxemia | Respiratory distress | Respiratory failure requiring assisted ventilation | Restrictive ventilatory defect | Tachycardia | Tachypnea" ], "symptoms_ja_list": [ "乳児期の成長障害 (成長不全) | 低酸素血症への感受性の減少 | 呼吸窮迫 | 外層 | 多呼吸 | 循環性タンパク値の異常 | 急性感染性肺炎 | 拘束性肺疾患 | 泡沫細胞 | 補助換気が必要な呼吸不全 | 頻拍" ] }, { "id": "NANDO:1200123", "label_en": "Mucolipidosis II, III", "label_ja": "ムコリピドーシスII型,III型", "yomigana": "むこりぴどーしす2がた,3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200123", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201308", "label_en": "Apert syndrome (coronal synostosis)", "label_ja": "アペール症候群（冠状縫合）", "yomigana": "あぺーるしょうこうぐん（かんじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201308", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200777", "label_en": "ACTH unresponsiveness", "label_ja": "副腎皮質刺激ホルモン不応症", "yomigana": "ふくじんひしつしげきほるもんふおうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200777", "notificationNumber": "237", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201225", "label_en": "Type 6 Farber disease", "label_ja": "サンドホフ病合併型ファーバー病", "yomigana": "さんどほふびょうがっぺいがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201225", "notificationNumber": "123", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201370", "label_en": "Stage I huge arteriovenous malformation", "label_ja": "巨大動静脈奇形（Stage I）", "yomigana": "きょだいどうじょうみゃくきけい（すてーじ1）", "url": "http://nanbyodata.jp/ontology/NANDO_2201370", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201110", "label_en": "STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy", "label_ja": "乳児発症 STING 関連血管炎", "yomigana": "にゅうじはっしょうせいすてぃんぐかんれんけっかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201110", "notificationNumber": "345", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Anemia | Antinuclear antibody positivity | Antiphospholipid antibody positivity | Arthralgia | Autosomal dominant inheritance | Cutis marmorata | Decreased total leukocyte count | Decreased total lymphocyte count | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Erythema | Failure to thrive | Follicular hyperplasia | Increased circulating IgA concentration | Increased circulating IgG concentration | Infantile onset | Joint stiffness | Myositis | Nail dystrophy | Neonatal onset | Pulmonary fibrosis | Pustule | Recurrent fever | Recurrent infections | Recurrent respiratory infections | Rheumatoid factor positive | Skeletal muscle atrophy | Skin rash | Sparse hair | Tachypnea | Telangiectasia | Thrombocytosis" ], "symptoms_ja_list": [ "CRP 上昇 | IgA 値増加 | IgG 値増加 | リウマチ因子陽性 | リンパ球減少症 | 反復性呼吸器感染症 | 反復性感染症 | 多呼吸 | 大理石皮膚 | 常染色体顕性遺伝 | 成長障害 (成長不全) | 抗リン脂質抗体陽性 | 抗核抗体陽性 | 毛細血管拡張 | 濾胞過形成 | 爪ジストロフィー | 疎な毛髪 | 発熱エピソード | 白血球減少症 | 皮膚発疹 | 筋炎 | 筋萎縮 | 紅斑 | 肺線維症 | 膿疱 | 血小板増多症 | 貧血 | 赤沈値上昇 | 関節拘縮 | 関節痛" ] }, { "id": "NANDO:2200672", "label_en": "Afibrinogenemia", "label_ja": "先天性フィブリノーゲン欠乏症", "yomigana": "せんてんせいふぃぶりのーげんけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200672", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Abnormal bleeding | Abnormal umbilical stump bleeding | Autosomal recessive inheritance | Bruising susceptibility | Cerebral hemorrhage | Childhood onset | Congenital onset | Death in adolescence | Death in childhood | Death in infancy | Epidural hemorrhage | Epistaxis | Gingival bleeding | Hematemesis | Hypofibrinogenemia | Infantile onset | Joint swelling | Miscarriage | Neonatal death | Persistent bleeding after trauma | Prolonged bleeding after dental extraction | Splenic rupture | Subdural hemorrhage" ], "symptoms_ja_list": [ "低フィブリノーゲン血症 | 出血傾向 | 吐血 | 外傷後の持続性出血 | 大脳出血 | 常染色体潜性遺伝 | 抜歯後の遷延性出血 | 歯肉出血 | 異常な出血 | 異常な臍帯断端出血 | 硬膜下出血 | 硬膜外出血 | 脾破裂 | 自然流産 | 関節腫脹 | 鼻出血" ] }, { "id": "NANDO:2200639", "label_en": "Disseminated intravascular coagulation", "label_ja": "播種性血管内凝固症候群", "yomigana": "はしゅせいけっかんないぎょうこしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200639", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100185", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100120", "label_en": "Hypothyroidism", "label_ja": "甲状腺機能低下症", "yomigana": "こうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100120", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200883", "label_en": "Alternating hemiplegia of childhood", "label_ja": "小児交互性片麻痺", "yomigana": "しょうにこうごせいかたまひ", "url": "http://nanbyodata.jp/ontology/NANDO_2200883", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100239", "symptoms_en_list": [ "Abdominal distention | Abnormal T-wave | Abnormal autonomic nervous system physiology | Abnormal involuntary eye movements | Abnormal pyramidal sign | Abnormality of the gastrointestinal tract | Aggressive behavior | Anorexia | Apnea | Areflexia | Arrhythmia | Aspiration | Ataxia | Atypical behavior | Bilateral tonic-clonic seizure | Bulbar signs | Cardiomyopathy | Chorea | Choreoathetosis | Constipation | Dehydration | Delayed speech and language development | Diarrhea | Downturned corners of mouth | Dysarthria | Dysphagia | Dystonia | EEG abnormality | Emotional lability | Episodic hemiplegia | Esotropia | Exaggerated cupid's bow | Exotropia | Facial hypotonia | Failure to thrive | Focal motor seizure | Gastrointestinal dysmotility | Headache | High forehead | Hyperhidrosis | Hyperreflexia | Hypotonia | Impulsivity | Intellectual disability | Mydriasis | Neurodevelopmental delay | Nystagmus | Oculomotor apraxia | Oral-pharyngeal dysphagia | Pallor | Paroxysmal dyskinesia | Progressive neurologic deterioration | Respiratory distress | Rigidity | Seizure | Status epilepticus | Tetraparesis | Tremor | Vomiting" ], "symptoms_ja_list": [ "てんかん重積 | ジストニア | 下痢 | 不整脈 | 便秘 | 全身性間代性強直性発作 | 内斜視 | 反射亢進 | 口腔咽頭嚥下障害 | 口角下垂 | 呼吸窮迫 | 嘔吐 | 嚥下障害 | 四肢不全麻痺 | 外斜視 | 多汗 | 心筋症 | 心電図: T-波異常 | 情動不安定 | 成長障害 (成長不全) | 振戦 | 攻撃的行動 | 散瞳 | 構音障害 | 無反射 | 無呼吸 | 焦点性運動発作 | 片麻痺エピソード | 球症状 | 異常な不随意眼運動 | 異常な自律神経生理 | 発作 | 発作性ジスキネジア | 発語および言語発達遅延 | 眼振 | 眼球運動失行症 | 知的障害 | 硬直 | 神経発生遅延 | 筋緊張低下 | 胃腸管の異常 | 胃腸蠕動運動異常 | 脱水 | 脳波異常 | 腹部膨満 | 舞踏病 | 舞踏病アテトーゼ | 蒼白 | 行動異常 | 衝動性 | 誇張されたキューピッドの弓 | 誤嚥 | 進行性神経学的悪化 | 運動失調 | 錐体路運動機能の異常 | 頭痛 | 顔面筋緊張低下 | 食思不振 | 高い額" ] }, { "id": "NANDO:2200469", "label_en": "Tyrosinemia type 2", "label_ja": "高チロシン血症2型", "yomigana": "こうちろしんけっしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200469", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "4-Hydroxyphenylpyruvic aciduria | Abnormal nail morphology | Abnormal speech pattern | Abnormality of amino acid metabolism | Abnormality of the skin | Ataxia | Atypical behavior | Autosomal recessive inheritance | Corneal opacity | Growth delay | Herpetiform corneal ulceration | Hyperhidrosis | Hyperkeratosis | Hypertyrosinemia | Intellectual disability | Malar flattening | Microcephaly | Nystagmus | Palmoplantar keratoderma | Photophobia | Seizure | Tremor | Visual loss" ], "symptoms_ja_list": [ "4-ヒドロキシフェニルピルビン酸尿 | アミノ酸代謝の異常 | ヘルペス型角膜潰瘍 | 多汗 | 小頭 | 常染色体潜性遺伝 | 平坦な頬 | 成長遅滞 | 振戦 | 掌蹠角皮症 | 爪の異常 | 発作 | 皮膚の異常 | 眼振 | 知的障害 | 神経学的発語障害 | 羞明 | 行動異常 | 視力喪失 | 角膜混濁 | 運動失調 | 過角化症 | 高チロシン血症" ] }, { "id": "NANDO:1200799", "label_en": "Glucose transporter 1 deficiency", "label_ja": "グルコーストランスポーター1欠損症", "yomigana": "ぐるこーすとらんすぽーたー1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200799", "notificationNumber": "248", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal erythrocyte morphology | Apraxia | Ataxia | Autosomal dominant inheritance | Autosomal recessive inheritance | Babinski sign | Central apnea | Childhood onset | Chorea | Choreoathetosis | Confusion | Cyanosis | Delayed speech and language development | Dysarthria | Dyskinesia | Dystonia | EEG abnormality | Encephalopathy | Extrapyramidal dyskinesia | Gait ataxia | Generalized hyperreflexia | Global developmental delay | Headache | Hemiparesis | Hyperreflexia | Hypertonia | Hypoglycorrhachia | Hypotonia | Infantile onset | Intellectual disability | Lethargy | Mild intellectual disability | Moderate intellectual disability | Muscle stiffness | Myoclonus | Paralysis | Paroxysmal dystonia | Paroxysmal involuntary eye movements | Paroxysmal lethargy | Progressive microcephaly | Secondary microcephaly | Seizure | Severe intellectual disability | Short stature | Sleep disturbance | Slurred speech | Spasticity | Specific learning disability | Status epilepticus | Strabismus" ], "symptoms_ja_list": [ "Babinski サイン | てんかん重積 | ジスキネジア | ジストニア | チアノーゼ | ミオクローヌス | 不明瞭言語 | 中枢性無呼吸 | 低身長 | 全般性発達遅滞 | 全身性反射亢進 | 反射亢進 | 失行症 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 斜視 | 構音障害 | 歩行失調 | 無気力 | 片側不全麻痺 | 特異的学習障害 | 生後の小頭 | 痙性 | 発作 | 発作性ジストニア | 発作性不随意性眼球運動 | 発作性無気力 | 発語および言語発達遅延 | 睡眠障害 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "軽度 | 知的障害", "重度 | 筋硬直 | 筋緊張亢進 | 筋緊張低下 | 脳波異常 | 脳症 | 舞踏病 | 舞踏病アテトーゼ | 赤血球の異常 | 進行性小頭 | 運動失調 | 錐体外路ジスキネジア | 錯乱 | 頭痛 | 髄液糖減少症 | 麻痺" ] }, { "id": "NANDO:1200827", "label_en": "Glycogen storage diseases type IV", "label_ja": "筋型糖原病IV型", "yomigana": "きんがたとうげんびょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200827", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal muscle glycogen content | Arthrogryposis multiplex congenita | Ascites | Autosomal recessive inheritance | Bradycardia | Cardiomyopathy | Cirrhosis | Congestive heart failure | Decreased fetal movement | Decreased liver function | Dilated cardiomyopathy | Diminished deep tendon reflex | Edema | Elevated circulating hepatic transaminase concentration | Esophageal varix | Failure to thrive | Fetal akinesia sequence | Flexion contracture | Generalized abnormality of skin | Generalized hypotonia | Hepatic failure | Hepatomegaly | Hepatosplenomegaly | Hydrops fetalis | Hypoalbuminemia | Hyporeflexia | Hypotonia | Motor delay | Muscle weakness | Myopathy | Nonimmune hydrops fetalis | Polyhydramnios | Portal hypertension | Prolonged partial thromboplastin time | Prolonged prothrombin time | Respiratory distress | Respiratory insufficiency | Severe muscular hypotonia | Skeletal muscle atrophy | Talipes equinovarus | Tubulointerstitial fibrosis" ], "symptoms_ja_list": [ "うっ血性心不全 | プロトロンビン時間遷延 | ミオパチー | 先天性多発性関節拘縮 | 全身性皮膚異常 | 全身性筋緊張低下 | 内反尖足 | 反射低下 | 呼吸不全 | 呼吸窮迫 | 尿細管間質 線維症 | 屈曲拘縮 | 常染色体潜性遺伝 | 徐脈 | 心筋症 | 成長障害 (成長不全) | 拡張型心筋症 | 浮腫 | 異常な筋グリコーゲン量 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 羊水過多 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝機能低下 | 肝硬変 | 肝脾腫 | 肝腫 | 胎児水腫 | 胎児無動シークェンス | 胎動減少 | 腱反射減少 | 腹水 | 運動発達遅滞 | 部分的トロンボプラスチン時間遷延 | 重度筋緊張低下 | 門脈圧亢進 | 非免疫性胎児水腫 | 食道静脈瘤 | 高アルブミン血症" ] }, { "id": "NANDO:1200495", "label_en": "Myotonic dystrophy", "label_ja": "筋強直性ジストロフィー", "yomigana": "きんきょうちょくせいじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200495", "notificationNumber": "113", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200941", "label_en": "Crigler-Najjar syndrome", "label_ja": "クリグラー・ナジャー症候群", "yomigana": "くりぐらー・なじゃーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200941", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100272", "symptoms_en_list": [ "Abnormal auditory evoked potentials | Cognitive impairment | Coma | Drowsiness | Enamel hypoplasia | Hearing impairment | Hepatosplenomegaly | Hypotonia | Infectious encephalitis | Jaundice | Kernicterus | Lethargy | Memory impairment | Neonatal hyperbilirubinemia | Ophthalmoparesis | Opisthotonus | Poor suck | Pruritus | Seizure | Unconjugated hyperbilirubinemia | Vertigo" ], "symptoms_ja_list": [ "不抱合型高ビリルビン血症 | 吸啜不全 | 後弓反張 | 掻痒 | 新生児高ビリルビン血症 | 昏睡 | 核黄疸 | 歯エナメル質低形成 | 無気力 | 異常な聴性誘発反応 | 発作 | 眠気 | 眩暈 | 眼筋不全麻痺 | 筋緊張低下 | 肝脾腫 | 脳炎 | 記憶障害 | 認知障害 | 難聴 | 黄疸" ] }, { "id": "NANDO:1200522", "label_en": "Dystonia 11", "label_ja": "DYT11ジストニア", "yomigana": "でぃーわいてぃー11じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200522", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Anxiety | Compulsive behaviors | Depression | Dystonia | Myoclonus | Personality disorder | Spinal myoclonus | Torticollis | Writer's cramp" ], "symptoms_ja_list": [ "うつ | ジストニア | ミオクローヌス | 不安 | 強迫性行動 | 性格異常 | 斜頚 | 書痙 | 脊椎ミオクローヌス" ] }, { "id": "NANDO:2201226", "label_en": "Type 7 Farber disease", "label_ja": "ファーバー病（プロサポシン欠損型）", "yomigana": "ふぁーばーびょう（ぷろさぽしんけっそんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201226", "notificationNumber": "123", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100107", "label_en": "Hheterotaxy syndrome", "label_ja": "内臓錯位症候群", "yomigana": "ないぞうさくいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100107", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200972", "label_en": "Carnitine-acylcarnitine translocase deficiency", "label_ja": "カルニチン/アシルカルニチントランスロカーゼ欠損症", "yomigana": "かるにちん/あしるかるにちんとらんすろかーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200972", "notificationNumber": "316", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Arrhythmia | Atrioventricular block | Autosomal recessive inheritance | Bradycardia | Cardiac arrest | Cardiomyopathy | Cardiorespiratory arrest | Coma | Cyanosis | Decreased circulating carnitine concentration | Dicarboxylic aciduria | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Elevated creatine kinase after exercise | Encephalopathy | Fasting hypoglycemia | Generalized hypotonia | Global developmental delay | Hepatic failure | Hepatic steatosis | Hepatomegaly | Hyperammonemia | Hypoglycemia | Hypoketotic hypoglycemia | Hypotension | Hypothermia | Hypotonia | Irritability | Lethargy | Microcephaly | Muscle weakness | Neonatal hypoglycemia | Nystagmus | Oliguria | Preeclampsia | Premature ventricular contraction | Respiratory insufficiency | Rhabdomyolysis | Seizure | Sudden episodic apnea | Ventricular hypertrophy | Ventricular tachycardia" ], "symptoms_ja_list": [ "ジカルボン酸尿 | チアノーゼ | 不整脈 | 乏尿 | 低ケトン性低血糖 | 低体温 | 低血圧 | 低血糖 | 全般性発達遅滞 | 全身性筋緊張低下 | 呼吸不全 | 子癇前症 | 小頭 | 常染色体潜性遺伝 | 徐脈 | 心停止 | 心室性 頻拍 | 心室性期外収縮 | 心室肥大 | 心筋症 | 心肺停止 | 房室ブロック | 新生児低血糖 | 昏睡 | 横紋筋融解 | 無気力 | 発作 | 眼振 | 空腹時低血糖 | 突然無呼吸エピソード | 筋緊張低下 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝腫 | 脂肪肝 | 脳症 | 血清 creatine phosphokinase上昇 | 血漿カルニチン減少 | 被刺激性 | 運動後の creatine kinase 上昇 | 高アンモニア血症" ] }, { "id": "NANDO:2100179", "label_en": "Sideroblastic anemia", "label_ja": "鉄芽球性貧血", "yomigana": "てつがきゅうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2100179", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200122", "label_en": "Galactosialidosis, juvenile/adult form", "label_ja": "若年及び成人型ガラクトシアリドーシス", "yomigana": "じゃくねんおよびせいじんがたがらくとしありどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200122", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200944", "label_en": "Short bowel syndrome", "label_ja": "短腸症", "yomigana": "たんちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200944", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100274", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200366", "label_en": "other hypoaldosteronism", "label_ja": "46及び47に掲げるもののほか、低アルドステロン症", "yomigana": "46および47にかかげるもののほか、ていあるどすてろんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200366", "notificationNumber": "70", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100132", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200450", "label_en": "Pan-ulcerative colitis", "label_ja": "潰瘍性大腸炎（全大腸炎型）", "yomigana": "かいようせいだいちょうえん（ぜんだいちょうえんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200450", "notificationNumber": "97", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200144", "label_en": "Renal tubular acidosis", "label_ja": "尿細管性アシドーシス", "yomigana": "にょうさいかんせいあしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200144", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100019", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201242", "label_en": "Late infantile neuronal ceroid lipofuscinosis", "label_ja": "遅発乳児型神経セロイドリポフスチン症", "yomigana": "ちはつにゅうじがたしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201242", "notificationNumber": "121", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal nervous system electrophysiology | Ataxia | Autosomal recessive inheritance | Cerebral atrophy | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | Delayed speech and language development | Developmental regression | Increased extraneuronal autofluorescent lipopigment | Increased neuronal autofluorescent lipopigment | Myoclonus | Progressive visual loss | Retinal degeneration | Seizure | Undetectable electroretinogram" ], "symptoms_ja_list": [ "ミオクローヌス | 大脳萎縮 | 常染色体潜性遺伝 | 異常な神経系電気生理 | 発作 | 発語および言語発達遅延 | 発達退行 | 神経び自己蛍光脂肪色素の増加 | 神経外自己蛍光脂肪色素の増加 | 網膜変性 | 網膜電図 (ERG) 廃絶 | 自己蛍光性脂肪色素蓄積物質の曲線状細胞内蓄積 | 進行性視力喪失 | 運動失調" ] }, { "id": "NANDO:1201045", "label_en": "Progressive familial intrahepatic cholestasis type 3", "label_ja": "進行性家族性肝内胆汁うっ滞症3型", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201045", "notificationNumber": "338", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Ascites | Autosomal recessive inheritance | Bile duct proliferation | Cirrhosis | Diarrhea | Elevated circulating hepatic transaminase concentration | Hepatomegaly | Increased serum bile acid concentration | Infantile onset | Intrahepatic cholestasis | Jaundice | Malabsorption | Portal fibrosis | Pruritus | Splenomegaly" ], "symptoms_ja_list": [ "下痢 | 吸収障害 | 常染色体潜性遺伝 | 掻痒 | 肝トランスアミナーゼ上昇 | 肝内胆汁うっ滞 | 肝硬変 | 肝腫 | 胆管増殖 | 脾腫 | 腹水 | 血清胆汁酸濃度の増加 | 門脈線維症 | 黄疸" ] }, { "id": "NANDO:2200431", "label_en": "Familial Mediterranean fever", "label_ja": "家族性地中海熱", "yomigana": "かぞくせいちちゅうかいねつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200431", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abdominal pain | Acute hepatic failure | Amyloid deposition | Anxiety | Arrhythmia | Arthralgia | Arthritis | Ascites | Chest pain | Constipation | Depression | Diarrhea | Elevated erythrocyte sedimentation rate | Erysipelas | Erythema | Fatigue | Fever | Gastrointestinal infarctions | Hyperfibrinogenemia | Increased total leukocyte count | Intestinal obstruction | Irritability | Low back pain | Lymphadenopathy | Malabsorption | Meningitis | Myalgia | Myocardial infarction | Nausea and vomiting | Nephrocalcinosis | Nephropathy | Nephrotic syndrome | Oral leukoplakia | Orchitis | Osteoarthritis | Pancreatitis | Pedal edema | Pericarditis | Peritonitis | Pleuritis | Polyarticular arthritis | Poor appetite | Proteinuria | Seizure | Skin rash | Sleep disturbance | Splenomegaly | Vasculitis" ], "symptoms_ja_list": [ "うつ | アミロイドーシス | ネフローゼ症候群 | リンパ節腫大 | 下痢 | 下背部痛 | 不安 | 不整脈 | 丹毒 | 便秘 | 共通 | 口腔ロイコプラキア | 吐気と 嘔吐 | 吸収障害 | 多関節関節炎 | 心外膜炎 | 心筋梗塞 | 急性肝不全 | 浮腫 (下肢) | 疲労 | 発作 | 発熱 | 白血球増多症 | 皮膚発疹 | 睡眠障害 | 筋痛 | 精巣炎 | 紅斑 | 胃腸梗塞 | 胸膜炎 | 脾腫 | 腎症 | 腎石灰化症 | 腸閉塞 | 腹水 | 腹痛 | 腹膜炎 | 膵炎 | 蛋白尿 | 血管炎 | 被刺激性 | 赤沈値上昇 | 関節炎 | 関節痛 | 食思不振 | 骨関節炎 | 髄膜炎 | 高フィブリノーゲン血症" ] }, { "id": "NANDO:2201009", "label_en": "Achondroplasia", "label_ja": "軟骨無形成症", "yomigana": "なんこつむけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201009", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal iliac wing morphology | Abnormal midface morphology | Acanthosis nigricans | Anteverted nares | Autosomal dominant inheritance | Bowing of the legs | Brachydactyly | Brain stem compression | Central sleep apnea | Cervical spinal canal stenosis | Choanal stenosis | Conductive hearing impairment | Congenital onset | Death in infancy | Depressed nasal bridge | Disproportionate short stature | Feeding difficulties | Femoral bowing | Flared metaphysis | Flat acetabular roof | Floppy infant | Frontal bossing | Functional abnormality of the middle ear | Generalized joint hypermobility | Genu varum | Hearing impairment | Hydrocephalus | Hypoxemia | Kyphosis | Limb undergrowth | Limited elbow extension | Limited hip extension | Lumbar hyperlordosis | Lumbar kyphosis in infancy | Macrocephaly | Malar flattening | Megalencephaly | Midface retrusion | Motor delay | Narrow greater sciatic notch | Narrow vertebral interpedicular distance | Neonatal short-limb short stature | Obesity | Obstructive sleep apnea | Parietal bossing | Polyhydramnios | Premature rupture of membranes | Pulmonary hypoplasia | Radial bowing | Recurrent otitis media | Respiratory distress | Restrictive ventilatory defect | Rhizomelia | Severe platyspondyly | Short femoral neck | Short femur | Short long bone | Short middle phalanx of finger | Short nasal bridge | Short proximal phalanx of finger | Short ribs | Small foramen magnum | Spinal canal stenosis | Spinal stenosis with reduced interpedicular distance | Thoracic hypoplasia | Thoracolumbar kyphosis | Trident hand | Ulnar bowing | Upper airway obstruction | Wide anterior fontanel" ], "symptoms_ja_list": [ "上向きの鼻孔 | 上気道閉塞 | 下肢湾曲 | 不均衡型低身長 | 中枢性睡眠時無呼吸 | 中耳機能異常 | 乳児筋性筋緊張低下 | 伝音難聴 | 低酸素血症への感受性の減少 | 全身性関節弛緩 | 内反膝 | 前期破水 | 前頭突出", "額突出 | 反復性中耳炎 | 呼吸窮迫 | 四肢成長不全 | 四肢近位短縮 | 大腿骨湾曲 | 大頭 | 小さい大孔 | 尺骨湾曲 | 巨大脳症 | 常染色体顕性遺伝 | 幅広い大泉門 | 平坦な寛骨臼蓋 | 平坦な頬 | 後弯 | 後鼻孔狭窄 | 拘束性肺疾患 | 新生児短い-四肢低身長 | 椎弓根間距離減少を伴う脊椎狭窄 | 橈側湾曲 | 水頭症 | 狭い大仙坐骨切痕 | 狭い脊椎椎弓根間距離 | 短い大腿骨 | 短い大腿骨頸部 | 短い指の基節骨 | 短い指中節骨 | 短い肋骨 | 短い長管骨 | 短い鼻梁 | 短指症候群 | 羊水過多 | 肘伸展制限 | 股関節伸展制限 | 肥満 | 肺低形成 | 胸腰椎後弯 | 胸郭低形成 | 脊椎管狭窄 | 脳幹圧迫 | 腰椎前弯 hyperlordosis | 腰椎後弯 (乳児期の) | 腸骨翼の異常 | 落ちくぼんだ鼻梁 | 運動発達遅滞 | 重度の扁平脊椎 | 鉾状の手 | 閉塞性睡眠時無呼吸 | 難聴 | 頚椎管後索 | 頭頂突出 | 顔面中部の異常 | 顔面中部後退 | 食餌摂取障害 | 骨幹端フレア | 黒色表皮腫" ] }, { "id": "NANDO:2100251", "label_en": "Chronic inflammatory demyelinating polyneuropathy", "label_ja": "慢性炎症性脱髄性多発神経炎", "yomigana": "まんせいえんしょうせいだつずいせいたはつしんけいえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100251", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200575", "label_en": "Peroxisome biogenesis disorders", "label_ja": "ペルオキシソーム形成異常症", "yomigana": "ぺるおきしそーむけいせいいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200575", "notificationNumber": "82", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100245", "label_en": "Subacute sclerosing panencephalitis", "label_ja": "亜急性硬化性全脳炎", "yomigana": "あきゅうせいこうかせいぜんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100245", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200472", "label_en": "Prolidase deficiency", "label_ja": "プロリダーゼ欠損症", "yomigana": "ぷろりだーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200472", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal facial shape | Abnormal fingernail morphology | Abnormal hip bone morphology | Abnormal retinal pigmentation | Abnormality of the immune system | Abnormality of the middle ear | Anemia | Aplasia/Hypoplasia of the skin | Arachnodactyly | Asthma | Autosomal recessive inheritance | Bilateral single transverse palmar creases | Carious teeth | Childhood onset | Chronic lung disease | Concave nasal ridge | Crusting erythematous dermatitis | Cutaneous photosensitivity | Depressed nasal bridge | Depressed nasal ridge | Diffuse telangiectasia | Dry skin | Eczematoid dermatitis | Erythema | Facial hirsutism | Failure to thrive | Febrile seizure (within the age range of 3 months to 6 years) | Generalized hirsutism | Genu valgum | Global developmental delay | Hearing impairment | Hepatomegaly | High palate | Hirsutism | Hyperkeratosis | Hypertelorism | Hypoplasia of the zygomatic bone | Increased circulating immunoglobulin concentration | Intellectual disability | Low anterior hairline | Low posterior hairline | Micrognathia | Mild global developmental delay | Palmoplantar keratoderma | Papule | Petechiae | Prolonged neonatal jaundice | Prominent forehead | Proptosis | Pruritus | Ptosis | Recurrent cystitis | Recurrent infections | Recurrent pneumonia | Recurrent respiratory infections | Reduced bone mineral density | Short nose | Skin ulcer | Splenomegaly | Systemic lupus erythematosus | Thin skin | Thrombocytopenia | Visual impairment | White forelock" ], "symptoms_ja_list": [ "くも指 | びまん性毛細血管拡張 | 丘疹 | 両側性単一手掌横線 | 両眼隔離 | 中耳の異常 | 乾いた皮膚 | 低い前部毛髪線 | 免疫系の異常 | 全般性発達遅滞 | 全身性多毛 | 全身性紅斑性狼瘡 | 前頭部白髪 | 反復性呼吸器感染症 | 反復性感染症 | 反復性肺炎 | 反復性膀胱炎 | 喘息 | 外反膝 | 多毛 | 寛骨の異常 | 小顎 | 常染色体潜性遺伝 | 後部毛髪線低位 | 慢性肺疾患 | 成長障害 (成長不全) | 指爪の異常 | 掌蹠角皮症 | 掻痒 | 湿疹 | 点状出血 | 熱性けいれん | 異常な顔の形 | 痂皮性紅斑性皮膚炎 | 皮膚光線過敏症 | 皮膚潰瘍 | 皮膚無形成/低形成 | 目立つ額 | 眼球突出 | 眼瞼下垂 | 知的障害 | 短い鼻 | 窪んだ鼻梁 | 紅斑 | 網膜色素異常 | 肝腫 | 脾腫 | 落ちくぼんだ鼻梁 | 薄い皮膚 | 血小板減少 | 視力障害 | 貧血 | 軽度の全般性発達遅滞 | 過角化症 | 遷延性新生児黄疸 | 難聴 | 頬骨未発達 | 顔面多毛 | 骨ミネラル濃度減少 | 高ガンマグロブリン血症 | 高口蓋 | 齲歯" ] }, { "id": "NANDO:2200293", "label_en": "Aneurysm of sinus valsalva", "label_ja": "バルサルバ洞動脈瘤", "yomigana": "ばるさるばどうどうみゃくりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2200293", "notificationNumber": "66", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100101", "symptoms_en_list": [ "Aortic regurgitation | Bacterial endocarditis | Chest pain | Congestive heart failure | Cough | Dilatation of the sinus of Valsalva | Dyspnea | Edema | Oliguria | Stroke" ], "symptoms_ja_list": [ "Valsalva 洞動脈瘤 | うっ血性心不全 | 乏尿 | 共通 | 卒中 | 呼吸困難 | 外層 | 大動脈逆流 | 浮腫 | 細菌性心内膜炎" ] }, { "id": "NANDO:1200954", "label_en": "Unverricht-Lundborg disease", "label_ja": "ウンフェルリヒト・ルントボルグ病", "yomigana": "うんふぇるりひと・るんとぼるくびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200954", "notificationNumber": "309", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Ataxia | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Cutaneous photosensitivity | Dementia | Dysarthria | EEG with polyspike wave complexes | EEG with spike-wave complexes | Generalized non-motor (absence) seizure | Intellectual disability | Intention tremor | Interictal epileptiform activity | Juvenile onset | Limb ataxia | Mental deterioration | Mild intellectual disability | Morning myoclonic jerks | Myoclonus" ], "symptoms_ja_list": [ "Dementia | てんかん型脳波放電 | ミオクローヌス | 企図振戦 | 全身性間代性強直性発作 | 四肢失調 | 多棘除波複合を伴う脳波 | 常染色体潜性遺伝 | 朝のミオクローヌス発作 | 棘波複合を伴う脳波 | 構音障害 | 欠神発作 | 皮膚光線過敏症 | 知的障害 | 知的障害", "軽度 | 知能悪化 | 運動失調" ] }, { "id": "NANDO:1200079", "label_en": "Late infantile metachromatic leukodystrophy", "label_ja": "後期乳児型異染性白質ジストロフィー", "yomigana": "こうきにゅうじがたいせんせいはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200079", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal distention | Abnormal social behavior | Abnormality of metabolism/homeostasis | Abnormality of visual evoked potentials | Babinski sign | Bilateral sensorineural hearing impairment | Cholecystitis | Clumsiness | Decreased nerve conduction velocity | Delusion | Developmental regression | Dysarthria | Dystonia | EMG: chronic denervation signs | Emotional lability | Feeding difficulties in infancy | Frequent falls | Gait ataxia | Generalized hypotonia | Hallucinations | Hyporeflexia | Increased CSF protein concentration | Leukodystrophy | Loss of speech | Muscle weakness | Optic atrophy | Progressive gait ataxia | Progressive peripheral neuropathy | Reduced visual acuity | Seizure | Spasticity | Urinary incontinence" ], "symptoms_ja_list": [ "Babinski サイン | ジストニア | ロイコジストロフィー | 不器用 | 両側性感音難聴 | 中心視力減少 | 代謝/ホメオスターシスの異常 | 全身性筋緊張低下 | 反射低下 | 妄想 | 幻覚 | 情動不安定 | 構音障害 | 歩行失調 | 異常な社会的行動 | 痙性 | 発作 | 発語喪失 | 発達退行 | 神経活動電位の振幅減少 | 筋虚弱 | 筋電図: 慢性変性サイン | 胆嚢炎 | 腹部膨満 | 視神経萎縮 | 視覚誘発電位の異常 | 進行性末梢神経ニューロパチー | 進行性歩行失調 | 遺尿 | 頻回の転倒 | 食餌摂取障害 in infancy | 髄液タンパクの増加" ] }, { "id": "NANDO:1200772", "label_en": "Rhizomelic chondrodysplasia punctata type 3", "label_ja": "根性点状軟骨異形成症3型", "yomigana": "こんじょうてんじょうなんこついけいせいしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200772", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Autosomal recessive inheritance | Disproportionate short-limb short stature | Epiphyseal stippling | Failure to thrive | Rhizomelia | Short femur | Short humerus" ], "symptoms_ja_list": [ "不均衡型短肢低身長 | 四肢近位短縮 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 短い上腕骨 | 短い大腿骨 | 骨端点状石灰化" ] }, { "id": "NANDO:2201494", "label_en": "Syringomyelia following adhesive arachnoiditis", "label_ja": "癒着性くも膜炎に続発した脊髄空洞症", "yomigana": "ゆちゃくせいくもまくえんにぞくはつしたせきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201494", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200343", "label_en": "Hyperparathyroidism", "label_ja": "副甲状腺機能亢進症", "yomigana": "ふくこうじょうせんきのうこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200343", "notificationNumber": "78", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100123", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200715", "label_en": "MPO-ANCA positive rapidly progressive glomerulonephritis", "label_ja": "急速進行性糸球体腎炎（MPO-ANCA陽性）", "yomigana": "きゅうそくしんこうせいしきゅうたいじんえん（えむぴーおー-えーえぬしーえーようせい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200715", "notificationNumber": "220", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200058", "label_en": "Gaucher disease type 2", "label_ja": "ゴーシェ病2型", "yomigana": "ごーしぇびょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200058", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal pattern of respiration | Abnormal pulmonary interstitial morphology | Anemia | Apnea | Arthrogryposis multiplex congenita | Autosomal recessive inheritance | Bulbar signs | Cardiac arrest | Cerebral atrophy | Congenital nonbullous ichthyosiform erythroderma | Cough | Death in infancy | Decreased beta-glucocerebrosidase level | Double aortic arch | Dysphagia | Dyspnea | Dystonia | Encephalopathy | Esotropia | Failure to thrive | Feeding difficulties | Flexion contracture | Gastroesophageal reflux | Generalized myoclonic seizure | Global developmental delay | Hepatomegaly | Hyperreflexia | Hypertonia | Hypotonia | Ichthyosis | Infantile onset | Irritability | Nonimmune hydrops fetalis | Oculomotor apraxia | Ophthalmoplegia | Opisthotonus | Progressive neurologic deterioration | Progressive psychomotor deterioration | Protuberant abdomen | Recurrent aspiration pneumonia | Recurrent respiratory infections | Respiratory distress | Rigidity | Seizure | Spasticity | Splenomegaly | Strabismus | Stridor | Supranuclear gaze palsy | Thrombocytopenia | Trismus | Unusual bronchiolitis | Vomiting" ], "symptoms_ja_list": [ "β-グルコセレブロシダーゼタンパクと活性の減少 | ジストニア | 先天性多発性関節拘縮 | 先天性非水泡性魚鱗癬型紅皮症 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 内斜視 | 反射亢進 | 反復性呼吸器感染症 | 反復性誤嚥性肺炎 | 呼吸パターンの異常 | 呼吸困難 | 呼吸窮迫 | 喘鳴 | 嘔吐 | 嚥下障害 | 外層 | 大脳萎縮 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弓反張 | 心停止 | 成長障害 (成長不全) | 斜視 | 核上性注視麻痺 | 無呼吸 | 球症状 | 痙性 | 発作 | 眼球運動失行症 | 眼筋麻痺 | 硬直 | 筋緊張亢進 | 筋緊張低下 | 細気管支炎 | 肝腫 | 胃食道逆流 | 脳症 | 脾腫 | 腹部突出 | 血小板減少 | 被刺激性 | 貧血 | 進行性神経学的悪化 | 進行性精神運動発達悪化 | 重複大動脈弓 | 開口障害 (牙関緊急) | 間質性肺疾患 | 非免疫性胎児水腫 | 食餌摂取障害 | 魚鱗癬" ] }, { "id": "NANDO:2100006", "label_en": "Solid tumor (excluding solid tumour of the central nervous system)", "label_ja": "固形腫瘍（中枢神経系腫瘍を除く。）", "yomigana": "こけいしゅよう（ちゅうすうしんけいけいしゅようをのぞく。）", "url": "http://nanbyodata.jp/ontology/NANDO_2100006", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201165", "label_en": "Cockayne syndrome type 3", "label_ja": "コケイン症候群III型", "yomigana": "こけいんしょうこうぐん3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201165", "notificationNumber": "192", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal facial shape | Abnormal myelination | Abnormality of peripheral nerve conduction | Adult onset sensorineural hearing impairment | Aortic root aneurysm | Areflexia | Astrocytosis | Basal ganglia calcification | Brain atrophy | Cardiomyopathy | Carious teeth | Cataract | Cerebellar dentate nucleus calcification | Cerebral white matter atrophy | Cognitive impairment | Conductive hearing impairment | Corneal ulceration | Cutaneous photosensitivity | Deeply set eye | Demyelinating peripheral neuropathy | Dry hair | Elevated circulating hepatic transaminase concentration | Enamel hypoplasia | Feeding difficulties | Flexion contracture | Functional motor deficit | Gait disturbance | Gastroesophageal reflux | Hepatomegaly | Hydronephrosis | Hydroureter | Hypermetropia | Hyperreflexia | Intention tremor | Keratoconjunctivitis sicca | Kyphosis | Lentiglobus | Macrotia | Microcornea | Microphthalmia | Mild intellectual disability | Mild postnatal growth retardation | Narrow nose | Neurodevelopmental delay | Neurogenic bladder | Nystagmus | Optic disc pallor | Peripheral axonal neuropathy | Peripheral neuropathy | Photophobia | Premature coronary artery atherosclerosis | Premature graying of hair | Progressive microcephaly | Progressive neurologic deterioration | Renal hypoplasia | Renal insufficiency | Retinal atrophy | Retinal degeneration | Retinal dystrophy | Retinal hemorrhage | Scoliosis | Seizure | Short chin | Skeletal muscle atrophy | Splenomegaly | Strabismus | Stroke | Subcortical white matter calcifications | Subdural hemorrhage | Unilateral renal agenesis | Unsteady gait | Urinary retention | Vascular calcification" ], "symptoms_ja_list": [ "不安定歩行 | 乾いた毛髪 | 乾燥性 | 企図振戦 | 伝音難聴 | 側弯 | 卒中 | 反射亢進 | 基底核石灰化 | 大動脈基部拡大 | 大耳 | 大脳白質萎縮 | 小眼球 | 小脳歯状核の濃い石灰化 | 小角膜 | 尿閉 | 屈曲拘縮 | 後弯 | 心筋症 | 成人発症感音難聴 | 斜視 | 早発性冠動脈疾患 | 早発性毛髪白髪 | 星状細胞増加; | 末梢神経ニューロパチー | 末梢神経伝導の異常 | 末梢神経軸索ニューロパチー | 機能的筋異常 | 歩行障害 | 歯エナメル質低形成 | 水尿管症 | 水腎症 | 無反射 | 片側性腎無発生 | 狭い鼻 | 球形円錐水晶体 | 異常な顔の形 | 異常な髄鞘形成 | 発作 | 白内障 | 皮膚光線過敏症 | 皮質下白質 石灰化 | 眼振 | 知的障害", "軽度 | 短い下顎 | 硬膜下出血 | 神経因性膀胱 | 神経発生遅延 | 筋萎縮 | 網膜ジストロフィー | 網膜出血 | 網膜変性 | 網膜萎縮 | 羞明 | 肝トランスアミナーゼ上昇 | 肝腫 | 胃食道逆流 | 脱髄性末梢運動神経ニューロパチー | 脳萎縮 | 脾腫 | 腎不全 | 腎低形成 | 落ちくぼんだ眼 | 血管石灰化 | 視神経杯蒼白 | 角膜潰瘍 | 認知障害 | 軽度の生後の成長遅滞 | 進行性小頭 | 進行性神経学的悪化 | 遠視 | 食餌摂取障害 | 齲歯" ] }, { "id": "NANDO:2100155", "label_en": "Skin and connective tissue disease", "label_ja": "皮膚・結合組織疾患", "yomigana": "ひふ・けつごうそしきしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100155", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100151", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200304", "label_en": "Pulmonary valve stenosis", "label_ja": "肺動脈弁狭窄症", "yomigana": "はいどうみゃくべんきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200304", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100105", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200391", "label_en": "Growth hormone secretion deficiency of dwarfism", "label_ja": "GH 分泌不全性低身長症（小児）", "yomigana": "じーえいちぶんぴつふぜんせいていしんちょうしょう（しょうに）", "url": "http://nanbyodata.jp/ontology/NANDO_1200391", "notificationNumber": "78", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200752", "label_en": "Obesity hypoventilation syndrome", "label_ja": "肥満低換気症候群", "yomigana": "ひまんていかんきしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200752", "notificationNumber": "230", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Autosomal recessive inheritance | Cyanosis | Excessive daytime somnolence | Hypoventilation | Obesity" ], "symptoms_ja_list": [ "チアノーゼ | 低換気 | 嗜眠 | 常染色体潜性遺伝 | 肥満" ] }, { "id": "NANDO:2200664", "label_en": "ITGA2B/ITGB3 mutations", "label_ja": "GPIIb/IIIa異常症", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_2200664", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201380", "label_en": "Junctional epidermolysis bullosa with pyloric atresia", "label_ja": "幽門閉鎖合併型表皮水疱症", "yomigana": "ゆうもんへいさがっぺいがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201380", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [ "Abdominal distention | Abnormal blistering of the skin | Anonychia | Aplasia cutis congenita | Aplasia cutis congenita on trunk or limbs | Aplasia of the bladder | Arthrogryposis multiplex congenita | Atrophic scars | Autosomal recessive inheritance | Axillary pterygium | Congenital onset | Congenital pyloric atresia | Death in infancy | Ectropion | Elevated maternal circulating alpha-fetoprotein concentration | Enamel hypoplasia | Esophageal atresia | Fragile skin | Hematuria | Hydronephrosis | Intestinal atresia | Intractable diarrhea | Lamina lucida cleavage | Milia | Nail dysplasia | Nail dystrophy | Nausea and vomiting | Oral mucosal blisters | Polyhydramnios | Pterygium | Recurrent skin infections | Renal duplication | Renal dysplasia | Ureterocele | Urethral stricture | Urinary bladder inflammation" ], "symptoms_ja_list": [ "体幹又は四肢の先天性皮膚無形成 | 先天性多発性関節拘縮 | 先天性幽門閉鎖 | 先天性皮膚無形成 | 反復性皮膚感染症 | 口腔粘膜水泡 | 吐気と 嘔吐 | 外反(眼瞼) | 尿管瘤 | 尿道胸抱く | 常染色体潜性遺伝 | 接合部亀裂 | 歯エナメル質低形成 | 母体血清αフェトプロテイン高値 | 水腎症 | 無爪症 | 爪ジストロフィー | 爪異形成 | 異常な皮膚水泡 | 稗粒腫 | 羊水過多 | 翼状片 | 脆い皮膚 | 腋窩翼状片 | 腎異形成 | 腎重複 | 腸閉鎖 | 腹部膨満 | 膀胱炎症 | 膀胱無形成 | 萎縮性瘢痕 | 血尿 | 難治性下痢 | 食道閉鎖" ] }, { "id": "NANDO:2100018", "label_en": "Renal arteriovenous fistula", "label_ja": "腎動静脈瘻", "yomigana": "じんどうじょうみゃくろう", "url": "http://nanbyodata.jp/ontology/NANDO_2100018", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201055", "label_en": "Sodium channel myasthenia", "label_ja": "ナトリウムチャンネル筋無力症", "yomigana": "なとりうむちゃんねるむきんりょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201055", "notificationNumber": "12", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200653", "label_en": "Cyclic thrombocytopenia", "label_ja": "周期性血小板減少症", "yomigana": "しゅうきせいけっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200653", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100192", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200725", "label_en": "Primary membranoproliferative glomerulonephritis", "label_ja": "一次性膜性増殖性糸球体腎炎", "yomigana": "いちじせいまくせいぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200725", "notificationNumber": "223", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Abnormal thrombosis | Acute kidney injury | Chronic kidney disease | Decreased circulating complement C3 concentration | Drusen | Glomerular subendothelial electron-dense deposits | Hypertension | Hypoalbuminemia | Membranoproliferative glomerulonephritis | Microscopic hematuria | Myocardial infarction | Nephrotic syndrome | Proteinuria | Renal insufficiency | Stage 5 chronic kidney disease" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | デンスデポジット糸球体腎炎", "密沈積症 | ドルーゼ (結晶腔; 晶洞; 脈絡膜硝子肬) | ネフローゼ症候群 | 心筋梗塞 | 急性腎外傷 | 慢性腎疾患 | 異常な血栓症 | 腎不全 | 膜性増殖性糸球体腎炎 | 蛋白尿 | 血清補体 C3減少 | 顕微血尿 | 高アルブミン血症 | 高血圧" ] }, { "id": "NANDO:2201408", "label_en": "Epilepsy of infancy with migrating focal seizures", "label_ja": "遊走性焦点発作を伴う乳児てんかん", "yomigana": "ゆうそうせいしょうてんほっさをともなうにゅうじてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_2201408", "notificationNumber": "79", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [ "Abnormal corpus callosum morphology | Bilateral tonic-clonic seizure | Bilateral tonic-clonic seizure with focal onset | Cerebral atrophy | Cognitive impairment | Delayed myelination | Developmental regression | Epileptic spasm | Failure to thrive | Focal emotional seizure with laughing | Focal hemiclonic seizure | Focal impaired awareness seizure | Functional motor deficit | Hypertonia | Hypotonia | Hypsarrhythmia | Inability to walk | Microcephaly | Multifocal epileptiform discharges | Neurodevelopmental delay | Precocious puberty | Scoliosis | Visual impairment" ], "symptoms_ja_list": [ "てんかん性スパスム | ヒプスアリスミア | 両側性けいれん発作 | 側弯 | 全身性間代性強直性発作 | 多焦点性てんかん型放電 | 大脳萎縮 | 小頭 | 思春期早発 | 意識または覚醒障害を伴う焦点性発作 | 成長障害 (成長不全) | 機能的筋異常 | 歩行不能 | 片側間代性発作 | 発達退行 | 神経発生遅延 | 笑い発作 | 筋緊張亢進 | 筋緊張低下 | 脳梁の異常 | 視力障害 | 認知障害 | 髄鞘形成遅延" ] }, { "id": "NANDO:1200493", "label_en": "Oculopharyngeal muscular dystrophy", "label_ja": "眼咽頭筋型筋ジストロフィー", "yomigana": "がんいんとうきんがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200493", "notificationNumber": "113", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal muscle fiber morphology | Axial muscle weakness | Cognitive impairment | Dysphagia | Dysphonia | Elevated circulating creatine kinase activity | Fatigue | Fatty replacement of skeletal muscle | Feeding difficulties | Limb-girdle muscle weakness | Mask-like facies | Muscle fiber intranuclear inclusion bodies | Myopathy | Ophthalmoplegia | Pain | Ptosis | Ragged-red muscle fibers | Rimmed vacuoles | Sleep apnea | Spondylolisthesis | Tongue atrophy | Tongue muscle weakness" ], "symptoms_ja_list": [ "Ragged-red 筋線維 | ミオパチー | 仮面様顔貌 | 嚥下障害 | 疲労 | 疼痛 | 発音障害 | 眼瞼下垂 | 眼筋麻痺 | 睡眠時無呼吸 | 筋線維の異常 | 筋線維核内封入体 | 縁取り空胞 | 肢帯筋虚弱 | 脊椎すべり症 | 舌萎縮 | 舌運動障害 | 血清 creatine phosphokinase上昇 | 認知障害 | 軸性筋虚弱 | 食餌摂取障害 | 骨格筋脂肪浸潤" ] }, { "id": "NANDO:2200674", "label_en": "Factor V deficiency", "label_ja": "第V因子欠乏症", "yomigana": "だい5いんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200674", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201311", "label_en": "Apert syndrome (squamosal synostosis)", "label_ja": "アペール症候群（鱗状縫合）", "yomigana": "あぺーるしょうこうぐん（りんじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201311", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200121", "label_en": "Galactosialidosis, late infantile form", "label_ja": "晩期乳児型ガラクトシアリドーシス", "yomigana": "ばんきにゅうじがたがらくとしありどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200121", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200815", "label_en": "Spinal lipoma", "label_ja": "脊髄脂肪腫", "yomigana": "せきずいしぼうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200815", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100215", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200778", "label_en": "C1r deficiency", "label_ja": "C1r 欠損症", "yomigana": "しー1あーるけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200778", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201444", "label_en": "Generalized congenital lipodystrophy", "label_ja": "先天性全身性脂肪萎縮症", "yomigana": "せんてんせいぜんしんせいしぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201444", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100147", "symptoms_en_list": [ "Abnormal facial shape | Acanthosis nigricans | Accelerated skeletal maturation | Adipose tissue loss | Amenorrhea | Bone cyst | Cirrhosis | Clitoral hypertrophy | Congestive heart failure | Diabetes mellitus | Failure to thrive | Global developmental delay | Hepatic steatosis | Hepatomegaly | Hypercholesterolemia | Hyperinsulinemia | Hypertrichosis | Hypertriglyceridemia | Hypertrophic cardiomyopathy | Insulin resistance | Intellectual disability | Large hands | Lipodystrophy | Long foot | Low anterior hairline | Low posterior hairline | Macroglossia | Mandibular prognathia | Oligomenorrhea | Overgrowth of external genitalia | Polycystic ovaries | Precocious puberty in females | Prominent superficial veins | Prominent supraorbital ridges | Proportionate tall stature | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "うっ血性心不全 | インスリン抵抗性 | リポジストロフィー | 下顎突出 | 不均衡型高身長 | 低い前部毛髪線 | 全般性発達遅滞 | 外性器過成長 | 多嚢胞性卵巣 | 多毛症 | 大きな手 | 女性での思春期早発 | 巨舌 | 希発月経 | 後部毛髪線低位 | 成長障害 (成長不全) | 無月経 | 異常な顔の形 | 目立つ眼窩上縁 | 目立つ表面静脈 | 知的障害 | 筋肥大 | 糖尿病 | 肝硬変 | 肝腫 | 肥大型心筋症 | 脂肪組織喪失 | 脂肪肝 | 長い足 | 陰核肥大 | 骨嚢胞 | 骨成熟促進 | 高インスリン血症 | 高コレステロール血症 | 高トリグリセリド血症 | 黒色表皮腫" ] }, { "id": "NANDO:1200478", "label_en": "Nemaline myopathy", "label_ja": "ネマリンミオパチー", "yomigana": "ねまりんみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200478", "notificationNumber": "111", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201114", "label_en": "Propionic acidemia, chronic progressive form", "label_ja": "慢性進行型プロピオン酸血症", "yomigana": "まんせいしんこうがたぷろぴおんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201114", "notificationNumber": "106", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200775", "label_en": "Isolated congenital asplenia", "label_ja": "孤立性先天性無脾症", "yomigana": "こりつせいせんてんせいむひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200775", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Asplenia | Autosomal dominant inheritance | Infantile onset | Thrombocytosis" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 無脾症 | 血小板増多症" ] }, { "id": "NANDO:1200309", "label_en": "Mixed-type autoimmune hemolytic anemia", "label_ja": "混合型自己免疫性溶血性貧血", "yomigana": "こんごうがたじこめんえきせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200309", "notificationNumber": "61", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal urinary color | Arthralgia | Autoimmune hemolytic anemia | Autoimmunity | Exertional dyspnea | Fatigue | Fever | Increased total bilirubin | Lymphoma | Muscle weakness | Pallor | Skin rash | Systemic lupus erythematosus | Tachycardia" ], "symptoms_ja_list": [ "リンパ腫 | 全身性紅斑性狼瘡 | 尿色異常 | 疲労 | 発熱 | 皮膚発疹 | 筋虚弱 | 総ビリルビン増加 | 自己免疫 | 自己免疫性溶血性貧血 | 蒼白 | 運動性呼吸困難 | 関節痛 | 頻拍" ] }, { "id": "NANDO:2200594", "label_en": "Tetrahydrobiopterin deficiency", "label_ja": "ビオプテリン代謝異常症", "yomigana": "びおぷてりんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200594", "notificationNumber": "54", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100170", "symptoms_en_list": [ "Atypical behavior | Basal ganglia calcification | Cognitive impairment | Decreased CSF homovanillic acid concentration | Delayed speech and language development | Dystonia | Excessive salivation | Hyperphenylalaninemia | Hypertonia | Hypomagnesemia | Hypotonia | Maturity-onset diabetes of the young | Microcephaly | Neurodevelopmental delay | Oculogyric crisis | Parkinsonism | Poor head control | Seizure | Sleep disturbance" ], "symptoms_ja_list": [ "ジストニア | パーキンソン症候群 | 低マグネシウム血症 | 基底核石灰化 | 小頭 | 注視クリーゼ | 発作 | 発語および言語発達遅延 | 睡眠障害 | 神経発生遅延 | 筋緊張亢進 | 筋緊張低下 | 若年発症成人型糖尿病 | 行動異常 | 誇張された唾液分泌 | 認知障害 | 頸定不全 | 髄液ホモバニリン酸(HVA)減少 | 高フェニールアラニン血症" ] }, { "id": "NANDO:2200816", "label_en": "Sacrococcygeal teratoma", "label_ja": "仙尾部奇形腫", "yomigana": "せんびぶきけいしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200816", "notificationNumber": "57", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100216", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200231", "label_en": "Paraneoplastic pemphigus", "label_ja": "腫瘍随伴性天疱瘡", "yomigana": "しゅようずいはんせいてんぽうそう", "url": "http://nanbyodata.jp/ontology/NANDO_1200231", "notificationNumber": "35", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | B-cell lymphoma | Oral mucosal blisters | Oral ulcer | Sarcoma | Skin erosion | Thymoma" ], "symptoms_ja_list": [ "B-細胞リンパ腫 | 口腔潰瘍 | 口腔粘膜水泡 | 異常な皮膚水泡 | 皮膚びらん | 肉腫 | 胸腺腫" ] }, { "id": "NANDO:1200625", "label_en": "Recessive X-linked ichtyosis", "label_ja": "X連鎖性劣性魚鱗癬症候群", "yomigana": "えっくすれんさせいれっせいぎょりんせんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200625", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal speech pattern | Attention deficit hyperactivity disorder | Autism | Childhood onset | Congenital ichthyosiform erythroderma | Congenital onset | Cryptorchidism | Desquamation of skin soon after birth | Dry skin | Hyperkeratosis | Hypohidrosis | Ichthyosis | Infantile onset | Intellectual disability | Motor delay | Neonatal onset | Opacification of the corneal stroma | Palmoplantar keratoderma | Testicular neoplasm | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | 乾いた皮膚 | 停留精巣 | 先天性魚鱗癬型紅皮症 | 掌蹠角皮症 | 注意力欠陥多動性疾患 | 減汗症 | 生後すぐの皮膚落屑 | 知的障害 | 神経学的発語障害 | 精巣新生物 | 自閉症 | 角膜間質混濁形成 | 運動発達遅滞 | 過角化症 | 魚鱗癬" ] }, { "id": "NANDO:1200918", "label_en": "Alagille syndrome", "label_ja": "アラジール症候群", "yomigana": "あらじーるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200918", "notificationNumber": "297", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abnormal pupil morphology | Abnormal rib morphology | Abnormal vertebral body morphology | Abnormality of the ureter | Atrial septal defect | Brachycephaly | Butterfly vertebral arch | Cholestasis | Clinodactyly of the 5th finger | Coarse facial features | Corneal dystrophy | Cryptorchidism | Deeply set eye | Delayed puberty | Delayed skeletal maturation | Downslanted palpebral fissures | Failure to thrive | Flat face | Frontal bossing | Hepatomegaly | Hypertelorism | Hypertension | Hypoplasia of the ulna | Intrauterine growth retardation | Keratoconus | Long nose | Micrognathia | Mild intellectual disability | Nephrotic syndrome | Peripheral pulmonary artery stenosis | Pointed chin | Protruding ear | Reduced number of intrahepatic bile ducts | Renal hypoplasia/aplasia | Round face | Short distal phalanx of finger | Short philtrum | Specific learning disability | Spina bifida occulta | Strabismus | Telangiectasia of the skin | Ventricular septal defect | Vertebral segmentation defect" ], "symptoms_ja_list": [ "ネフローゼ症候群 | 両眼隔離 | 丸い顔 | 停留精巣 | 円錐角膜 | 前頭突出", "額突出 | 子宮内成長遅滞 | 小顎 | 尖った下顎 | 尺骨低形成 | 尿管異常 | 平坦な顔 | 心室中隔欠損 | 心房中隔欠損 | 思春期遅発 | 成長障害 (成長不全) | 斜視 | 末梢肺動脈狭窄 | 椎体骨形態異常 | 潜在性二分脊椎 | 特異的学習障害 | 皮膚毛細血管拡張 | 眼瞼裂斜下 | 瞳孔の異常 | 知的障害", "軽度 | 短い人中 | 短い指末節骨 | 短頭 | 第5指弯指 | 粗な顔貌 | 耳介聳立 | 肋骨の異常 | 肝内胆管数減少 | 肝腫 | 胆汁うっ滞 | 脊椎分節異常 | 腎低形成/無形成 | 落ちくぼんだ眼 | 蝶形椎弓 | 角膜ジストロフィー | 長い鼻 | 骨格骨化遅延 | 高血圧" ] }, { "id": "NANDO:2200049", "label_en": "Osteochondromatosis", "label_ja": "骨軟骨腫症", "yomigana": "こつなんこつしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200049", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abnormal bone structure | Abnormal carpal morphology | Abnormal cartilage morphology | Abnormal femur morphology | Abnormal fibula morphology | Abnormal hand morphology | Abnormal long bone morphology | Abnormal metaphysis morphology | Abnormal tibia morphology | Abnormality of the knee | Abnormality of the tarsal bones | Arthritis | Asymmetric growth | Autosomal dominant inheritance | Bone pain | Bowing of the long bones | Cervical myelopathy | Chest pain | Chondrosarcoma | Coxa valga | Cranial nerve paralysis | Cubitus valgus | Deformed forearm bones | Deformed radius | Dysphagia | Facial asymmetry | Forearm undergrowth | Functional motor deficit | Genu valgum | Genu varum | Hemangioma | Hemothorax | Intestinal obstruction | Joint stiffness | Limb undergrowth | Limitation of joint mobility | Limitation of knee mobility | Limited hip movement | Lower limb asymmetry | Lymphangioma | Madelung deformity | Metaphyseal widening | Micromelia | Multiple enchondromatosis | Myalgia | Neoplasm | Neuropathic spinal arthropathy | Osteolysis | Pain | Pathologic fracture | Peripheral nerve compression | Pneumothorax | Rib exostoses | Sarcoma | Scapular exostoses | Scoliosis | Short long bone | Short lower limbs | Short metacarpal | Short stature | Skin ulcer | Somatic sensory dysfunction | Spinal cord compression | Subcutaneous nodule | Syringomyelia | Talipes valgus | Tethered cord | Upper limb asymmetry | Urinary retention | Venous thrombosis | Visceral angiomatosis" ], "symptoms_ja_list": [ "Made肺変形 | リンパ管腫 | 上肢非対称 | 下肢非対称 | 低身長 | 係留脊髄 | 側弯 | 共通 | 内反膝 | 内臓血管腫症 | 前腕成長不良 | 嚥下障害 | 四肢成長不全 | 変形した前腕骨 | 変形した橈骨 | 外反肘 | 外反股 | 外反膝 | 外反足 | 多発性内軟骨腫症 | 大腿骨の異常 | 小肢症 | 尿閉 | 常染色体顕性遺伝 | 感覚障害 | 手形態異常 | 手根骨の異常 | 新生物 | 末梢神経神経圧迫 | 機能的筋異常 | 気胸 | 疼痛 | 病的骨折 | 皮下結節 | 皮膚潰瘍 | 短い下肢 | 短い中手骨 | 短い長管骨 | 筋痛 | 肉腫 | 肋骨外骨症 | 股関節運動制限 | 肩甲骨外骨症 | 脊椎変形 | 脊髄圧迫 | 脊髄空洞症 | 脛骨の異常 | 脳神経麻痺 | 腓骨の異常 | 腸閉塞 | 膝の異常 | 膝運動制限 | 血性胸郭 | 血管腫 | 足根骨の異常 | 軟骨形態異常 | 軟骨肉腫 | 長管骨形態の異常 | 長管骨湾曲 | 関節拘縮 | 関節炎 | 関節運動制限 | 静脈血栓症 | 非対称性成長 | 頚髄ミエロパチー | 顔面非対称 | 骨幹端の異常 | 骨幹端拡大 | 骨構造異常 | 骨痛 | 骨融解" ] }, { "id": "NANDO:1200614", "label_en": "Harlequin ichthyosis", "label_ja": "道化師様魚鱗癬", "yomigana": "どうけしようぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200614", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Autosomal recessive inheritance | Cataract | Congenital ichthyosiform erythroderma | Congenital onset | Death in infancy | Dehydration | Depressed nasal ridge | Eclabion | Ectropion | Erythroderma | Everted lower lip vermilion | Failure to thrive | Foot polydactyly | Hand polydactyly | Hearing abnormality | Hyperkeratosis | Ichthyosis | Limitation of joint mobility | Malignant hyperthermia | Motor delay | Neonatal death | Premature birth | Proptosis | Recurrent respiratory infections | Respiratory insufficiency | Rigidity | Self-injurious behavior | Short finger | Sudden cardiac death" ], "symptoms_ja_list": [ "下口唇唇紅部外反 | 先天性魚鱗癬型紅皮症 | 反復性呼吸器感染症 | 口唇外反 | 呼吸不全 | 外反(眼瞼) | 多指症 | 多趾症 | 常染色体潜性遺伝 | 悪性高体温症 | 成長障害 (成長不全) | 早産 | 白内障 | 眼球突出 | 短い指 | 硬直 | 突然心臓死 | 紅皮症 | 聴覚異常 | 脱水 | 自傷行動 | 落ちくぼんだ鼻梁 | 運動発達遅滞 | 過角化症 | 関節運動制限 | 魚鱗癬" ] }, { "id": "NANDO:2200041", "label_en": "Ganglioneuroblastoma", "label_ja": "神経節芽腫", "yomigana": "しんけいせつがしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200041", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200683", "label_en": "4p deletion syndrome", "label_ja": "4p欠失症候群", "yomigana": "4ぴーけっしつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200683", "notificationNumber": "198", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abdominal situs inversus | Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal foot morphology | Abnormal heart valve morphology | Abnormal lip morphology | Abnormal pinna morphology | Abnormal sternal ossification | Abnormal thorax morphology | Abnormal vertebral body morphology | Abnormal vertebral morphology | Abnormality of movement | Abnormality of the gallbladder | Abnormality of the genital system | Abnormality of the genitourinary system | Abnormality of the immune system | Abnormality of the kidney | Abnormality of the mouth | Abnormality of the philtrum | Abnormality of the urinary system | Abnormality of the vertebral column | Absent septum pellucidum | Accessory spleen | Agenesis of corpus callosum | Aplasia cutis congenita of scalp | Aplasia of the uterus | Aplasia/Hypoplasia of the cerebellum | Aplasia/Hypoplasia of the lungs | Aplasia/Hypoplasia of the nipples | Arachnodactyly | Ataxia | Atrial septal defect | Autosomal dominant inheritance | Biliary tract abnormality | Calvarial skull defect | Cavum septum pellucidum | Chronic otitis media | Cleft palate | Cleft upper lip | Conductive hearing impairment | Congenital diaphragmatic hernia | Convex nasal ridge | Craniofacial asymmetry | Cryptorchidism | Decreased circulating IgA concentration | Decreased fetal movement | Decreased muscle mass | Delayed eruption of teeth | Delayed skeletal maturation | Disproportionate tall stature | Dolichocephaly | Downslanted palpebral fissures | Downturned corners of mouth | Dry skin | EEG abnormality | Ectopia pupillae | Epicanthus | Failure to thrive | Feeding difficulties | Frontal bossing | Gastroesophageal reflux | Generalized hypotonia | Glaucoma | Global developmental delay | Growth delay | Hearing impairment | Hemangioma | Hernia | High anterior hairline | High forehead | Highly arched eyebrow | Hip dislocation | Hip dysplasia | Hydrocephalus | Hyperconvex fingernails | Hypertelorism | Hypodontia | Hypoplastic pubic ramus | Hypospadias | Hypotonia | Immunodeficiency | Intrauterine growth retardation | Iris coloboma | Kyphosis | Low posterior hairline | Malrotation of small bowel | Megalocornea | Metacarpal pseudoepiphysis | Metatarsus adductus | Microcephaly | Micrognathia | Microtia | Morphological central nervous system abnormality | Motor stereotypy | Nystagmus | Optic atrophy | Orofacial cleft | Osteoporosis | Periventricular cysts | Posteriorly rotated ears | Preauricular pit | Preauricular skin tag | Preaxial foot polydactyly | Preaxial hand polydactyly | Precocious puberty | Prominent glabella | Proptosis | Ptosis | Radioulnar synostosis | Recurrent respiratory infections | Retinopathy | Rib fusion | Rib segmentation abnormalities | Rieger anomaly | Sacral dimple | Sclerocornea | Scoliosis | Seizure | Sensorineural hearing impairment | Severe intellectual disability | Severe postnatal growth retardation | Short hallux | Short philtrum | Short stature | Short thumb | Short upper lip | Single transverse palmar crease | Sleep disturbance | Small for gestational age | Split hand | Sporadic | Stenosis of the external auditory canal | Strabismus | Streak ovary | Talipes equinovarus | Taurodontia | Tethered cord | Ventricular septal defect | Ventriculomegaly | Vertebral fusion | Webbed neck | Wide nasal bridge" ], "symptoms_ja_list": [ "IgA欠乏症 | Rieger 奇形 | くも指 | コロボーマ | ヘルニア | 上口唇裂 | 不均衡型高身長 | 両眼隔離 | 中枢神経の形態異常 | 乳頭無形成/低形成 | 乾いた皮膚 | 人中の異常 | 仙骨部陥凹 | 伝音難聴 | 低身長 | 係留脊髄 | 停留精巣 | 側弯 | 偽骨端 (中手骨) | 先天性横隔膜ヘルニア | 先天性頭皮無形成 | 免疫不全 | 免疫系の異常 | 全般性発達遅滞 | 全身性筋緊張低下 | 内反尖足 | 内眼角贅皮 | 内転中足骨 | 凸の指爪 | 凸の鼻梁 | 前頭突出", "額突出 | 副脾 | 反復性呼吸器感染症 | 口の異常 | 口唇の異常 | 口腔裂 | 口蓋裂 | 口角下垂 | 在胎月齢より小さい児 | 外耳道狭窄 | 子宮内成長遅滞 | 子宮無形成 | 孤発性 | 小耳 | 小脳無形成/低形成 | 小腸回転異常 | 小頭 | 小顎 | 尿路異常 | 尿道下裂 | 巨大角膜 | 常同行動 | 常染色体顕性遺伝 | 幅広い鼻梁 | 後弯 | 後部毛髪線低位 | 循環器系の形態異常 | 心中隔 | 心室中隔欠損 | 心弁の異常 | 心房中隔欠損 | 思春期早発 | 性器異常 | 恥骨枝低形成 | 感音難聴 | 慢性中耳炎 | 成長遅滞 | 成長障害 (成長不全) | 手掌横線 | 斜視 | 椎体骨形態異常 | 橈尺骨癒合 | 歯萠出遅延 | 水頭症 | 泌尿生殖器異常 | 減歯症 | 牛歯 | 異所性瞳孔 pupillae | 発作 | 目立つ眉間 | 眼振 | 眼球突出 | 眼瞼下垂 | 眼瞼裂斜下 | 睡眠障害 | 知的障害", "重度 | 短い上口唇 | 短い人中 | 短い母指 | 短い母趾 | 筋緊張低下 | 筋量減少 | 索状卵巣 | 網膜症 | 緑内障 | 翼状頚 | 耳介の異常 | 耳介前小孔 | 耳介前皮膚肉柱 | 耳介後方回転 | 肋骨分節化異常 | 肋骨癒合 | 股関節異形成 | 股関節脱臼 | 肺無形成/低形成 | 胃食道逆流 | 胆嚢の異常 | 胆管異常 | 胎動減少 | 胸郭の異常 | 胸骨骨化異常 | 脊柱の異常 | 脊椎の異常 | 脊椎骨癒合 | 脳室周囲嚢胞 | 脳室拡大 | 脳梁無発生 of | 脳波異常 | 腎異常 | 腹部内臓逆位 | 血管腫 | 裂手 | 視神経萎縮 | 角膜硬化 | 足の異常 | 軸前性多指症 | 軸前性多趾症 | 透明中隔嚢胞 | 透明中隔欠損 | 運動の異常 | 運動失調 | 重度の生後の成長遅滞 | 長頭 | 難聴 | 頭蓋顔面非対称 | 頭蓋骨欠損t | 食餌摂取障害 | 骨格骨化遅延 | 骨粗鬆症 | 高い前部毛髪線 | 高い額 | 高位の弓形眉毛" ] }, { "id": "NANDO:1200102", "label_en": "Sanfilippo disease type B", "label_ja": "サンフィリッポ症候群B型", "yomigana": "さんふぃりっぽしょうこうぐんびーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200102", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Aggressive behavior | Asymmetric septal hypertrophy | Autosomal recessive inheritance | Cardiomegaly | Childhood onset | Coarse facial features | Coarse hair | Dense calvaria | Diarrhea | Dysostosis multiplex | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hirsutism | Hyperactivity | Intellectual disability | Joint stiffness | Juvenile onset | Ovoid thoracolumbar vertebrae | Progressive neurologic deterioration | Recurrent upper respiratory tract infections | Seizure | Sleep disturbance | Splenomegaly | Synophrys | Thickened ribs" ], "symptoms_ja_list": [ "下痢 | 卵形胸腰椎 | 反復性上気道感染症 | 多動 | 多毛 | 多発性異骨症 | 尿中硫酸ヘパラン排泄 | 常染色体潜性遺伝 | 心拡大 | 攻撃的行動 | 濃い頭蓋冠 | 発作 | 睡眠障害 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 肋骨肥厚 | 肝腫 | 脾腫 | 連続眉毛 | 進行性神経学的悪化 | 関節拘縮 | 難聴 | 非対称性中隔肥大" ] }, { "id": "NANDO:1200971", "label_en": "Carnitine palmitoyltransferase II deficiency", "label_ja": "カルニチンパルミトイルトランスフェラーゼII欠損症", "yomigana": "かるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200971", "notificationNumber": "316", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal basal ganglia morphology | Abnormal brain morphology | Abnormality of neuronal migration | Agenesis of corpus callosum | Arrhythmia | Cardiomyopathy | Cerebellar vermis hypoplasia | Cerebral calcification | Cold-induced muscle cramps | Coma | Cystic renal dysplasia | Decreased plasma free carnitine | Decreased plasma total carnitine | Elevated circulating creatine kinase activity | Episodic abdominal pain | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced myalgia | Headache | Hepatic calcification | Hepatic failure | Hepatomegaly | Hydrocephalus | Hyperlipidemia | Hypoketotic hypoglycemia | Intermittent painful muscle spasms | Muscle weakness | Myalgia | Myoglobinuria | Myopathy | Neonatal respiratory distress | Pachygyria | Polycystic kidney dysplasia | Polymicrogyria | Reduced tissue carnitine O-palmitoyltransferase 2 activity | Renal tubular epithelial necrosis | Rhabdomyolysis | Seizure | Stage 5 chronic kidney disease | Tubulointerstitial nephritis" ], "symptoms_ja_list": [ "carnitine O-palmitoyltransferase 活性減少 | ステージ5慢性腎疾患 | ニューロン移動の異常 | ミオグロビン尿 | ミオパチー | 不整脈 | 低ケトン性低血糖 | 嚢胞性腎異形成 | 基底核の異常 | 多嚢胞性腎異形成 | 多小脳回 | 大脳石灰化 | 寒冷誘発性筋けいれん (こむらがえり) | 小脳虫部低形成 | 尿細管間質性腎炎 | 心筋症 | 急性尿細管壊死 | 新生児呼吸窮迫 | 昏睡 | 横紋筋融解 | 水頭症 | 発作 | 筋痛 | 筋虚弱 | 肝不全 | 肝石灰化 | 肝腫 | 脳回肥厚 | 脳形態の異常 | 脳梁無発生 of | 腹痛エピソード | 血清 creatine phosphokinase上昇 | 血漿フリーカルニチン減少 | 血漿総カルニチン減少 | 運動不耐症 | 運動誘発性筋けいれん | 運動誘発性筋痛 | 間歇的有痛性筋スパスム | 頭痛 | 高脂血症" ] }, { "id": "NANDO:2100053", "label_en": "Long QT syndrome", "label_ja": "QT延長症候群", "yomigana": "きゅーてぃーえんちょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100053", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200602", "label_en": "Familial hypercholesterolemia", "label_ja": "家族性高コレステロール血症", "yomigana": "かぞくせいこうこれすてろーるけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200602", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100171", "symptoms_en_list": [ "Autosomal dominant inheritance | Autosomal recessive inheritance | Corneal arcus | Coronary artery atherosclerosis | Elevated circulating LDL-C concentration | Tendon xanthomatosis | Xanthelasma" ], "symptoms_ja_list": [ "冠動脈疾患 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 腱黄色腫症 | 角膜環 | 高βリポタンパク血症 | 黄色板症" ] }, { "id": "NANDO:1200248", "label_en": "Toxic epidermal necrolysis without spots", "label_ja": "中毒性表皮壊死症（びまん性紅班進展型）", "yomigana": "ちゅうどくせいひょうひえししょう（びまんせいこうはんしんてんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200248", "notificationNumber": "39", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200939", "label_en": "Central areolar choroidal dystrophy", "label_ja": "中心性輪紋状脈絡膜ジストロフィー", "yomigana": "ちゅうしんせいりんもんじょうみゃくらくまくじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200939", "notificationNumber": "301", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Absent retinal pigment epithelium | Chorioretinal atrophy | Drusen | Dyschromatopsia | Fundus hypopigmentation | Macular atrophy | Nyctalopia | Reduced visual acuity | Retinal pigment epithelial mottling | Slow decrease in visual acuity | Visual impairment | Visual loss" ], "symptoms_ja_list": [ "ドルーゼ (結晶腔; 晶洞; 脈絡膜硝子肬) | 中心視力減少 | 塩胡椒網膜症 | 夜盲症 | 眼底低色素 | 網膜色素上皮欠損 | 脈絡膜網膜萎縮 | 色弱 | 視力の緩徐な減少 | 視力喪失 | 視力障害 | 非炎症性黄斑萎縮" ] }, { "id": "NANDO:1201161", "label_en": "Pfeiffer syndrome type 2", "label_ja": "ファイファー症候群2型", "yomigana": "ふぁいふぁーしょうこうぐん2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201161", "notificationNumber": "183", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [ "Anal atresia | Aqueductal stenosis | Atresia of the external auditory canal | Broad hallux phalanx | Broad thumb | Chiari malformation | Choanal atresia | Cleft palate | Cloverleaf skull | Depressed nasal bridge | Deviation of the thumb | Finger syndactyly | Global developmental delay | Hallux varus | High forehead | High palate | Hydrocephalus | Hypertelorism | Increased intracranial pressure | Intellectual disability | Intestinal malrotation | Laryngomalacia | Limitation of joint mobility | Low-set ears | Malar flattening | Proptosis | Respiratory distress | Seizure | Short foot | Short hallux | Short nose | Small hand | Toe syndactyly | Tracheomalacia | Visual loss" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | クローバー型頭蓋骨 | 両眼隔離 | 全般性発達遅滞 | 内反母趾 | 口蓋裂 | 合指症 | 合趾症 | 呼吸窮迫 | 喉頭軟化症 | 外耳道閉鎖 | 小さい手 | 幅広い母指 | 幅広い母趾趾骨 | 平坦な頬 | 後鼻孔閉鎖 | 母指の偏位/位置異常 | 気管軟化症 | 水道狭窄 | 水頭症 | 発作 | 眼球突出 | 知的障害 | 短い母趾 | 短い足 | 短い鼻 | 耳介低位 | 腸回転異常 | 落ちくぼんだ鼻梁 | 視力喪失 | 鎖肛 | 関節運動制限 | 頭蓋内圧の増加 | 高い額 | 高口蓋" ] }, { "id": "NANDO:1200008", "label_en": "Primary lateral sclerosis", "label_ja": "原発性側索硬化症", "yomigana": "げんぱつせいそくさくこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200008", "notificationNumber": "4", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal lower motor neuron morphology | Abnormal upper motor neuron morphology | Abnormality of extrapyramidal motor function | Atrophy of the spinal cord | Babinski sign | Cervical spinal cord atrophy | Cognitive impairment | Dysphagia | EMG: chronic denervation signs | Gait imbalance | Generalized hyperreflexia | Hypernasal speech | Impaired smooth pursuit | Incoordination | Loss of speech | Motor axonal neuropathy | Progressive spastic paraparesis | Pseudobulbar signs | Somatic sensory dysfunction | Spastic dysarthria | Spastic gait | Spasticity | Upper motor neuron dysfunction | Urinary urgency | Weakness due to upper motor neuron dysfunction" ], "symptoms_ja_list": [ "Babinski サイン | 上運動ニューロン異常 | 下部運動 ニューロンの異常 | 不均衡歩行 | 主要運動路病変による麻痺 | 偽性球麻痺サイン | 全身性反射亢進 | 協調運動障害 | 嚥下障害 | 尿意切迫 | 感覚障害 | 滑らかな追視の障害 | 痙性 | 痙性構音障害 | 痙性歩行 | 発語喪失 | 皮質脊髄路機能障害 | 筋電図: 慢性変性サイン | 脊髄萎縮 | 認知障害 | 進行性痙性対不全麻痺 | 運動性軸索ニューロパチー | 錐体外路運動機能の異常 | 頚髄萎縮 | 鼻声発語" ] }, { "id": "NANDO:1201071", "label_en": "Polymicrogyria", "label_ja": "多小脳回", "yomigana": "たしょうのうかい", "url": "http://nanbyodata.jp/ontology/NANDO_1201071", "notificationNumber": "138", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200711", "label_en": "Schimke syndrome", "label_ja": "シムケ症候群", "yomigana": "しむけしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200711", "notificationNumber": "50", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [ "Abdominal distention | Abnormal T cell morphology | Abnormal T cell physiology | Abnormal circulating immunoglobulin concentration | Abnormal facial shape | Abnormal femoral head morphology | Abnormal intestine morphology | Abnormal primary molar morphology | Abnormality of the nervous system | Abnormality of thyroid physiology | Abnormally high-pitched voice | Anemia | Aphasia | Arteriosclerosis | Arteriosclerosis of small cerebral arteries | Astigmatism | Atherosclerosis | Autoimmunity | Autosomal recessive inheritance | Bilateral cryptorchidism | Bone marrow hypocellularity | Broad nasal tip | Bulbous nose | Cerebral ischemia | Coarse hair | Congenital onset | Congestive heart failure | Corneal opacity | Decreased circulating immunoglobulin concentration | Decreased total lymphocyte count | Decreased total neutrophil count | Depressed nasal bridge | Developmental regression | Disproportionate short-trunk short stature | Dysarthria | Dyspnea | Elevated circulating thyroid-stimulating hormone concentration | Encephalopathy | Failure to thrive | Fever | Fine hair | Focal hemiclonic seizure | Focal segmental glomerulosclerosis | Global developmental delay | Growth delay | Headache | Hemiparesis | Hemiplegia | Hyperlipidemia | Hypermelanotic macule | Hypertension | Hypodontia | Hypoplasia of the capital femoral epiphysis | Hypoplastic pelvis | Intellectual disability | Intrauterine growth retardation | Ischemic stroke | Lateral displacement of the femoral head | Lumbar hyperlordosis | Lymphoproliferative disorder | Macule | Microdontia | Microscopic hematuria | Migraine | Minimal change glomerulonephritis | Motor delay | Multiple lentigines | Muscle weakness | Myopia | Nephropathy | Nephrotic range proteinuria | Nephrotic syndrome | Non-Hodgkin lymphoma | Opacification of the corneal stroma | Osteopenia | Ovoid vertebral bodies | Pancreatitis | Pancytopenia | Platyspondyly | Premature birth | Proteinuria | Protuberant abdomen | Pulmonary arterial hypertension | Recurrent infections | Renal insufficiency | Seizure | Severe T-cell immunodeficiency | Shallow acetabular fossae | Short neck | Short stature | Small for gestational age | Spondyloepiphyseal dysplasia | Stage 5 chronic kidney disease | Status epilepticus | Stroke | Talipes equinovarus | Thoracic kyphosis | Thrombocytopenia | Transient ischemic attack | Triangular face | Waddling gait | Wide capital femoral epiphyses | Wide nasal bridge" ], "symptoms_ja_list": [ "T 細胞の異常 | T 細胞生理の異常 | うっ血性心不全 | てんかん重積 | よたつき歩行 | ステージ5慢性腎疾患 | ネフローゼ症候群 | ネフローゼ範囲の蛋白尿 | メラニン増加性斑 | リンパ増殖性疾患 | リンパ球減少症 | 一過性虚血発作 | 三角形の顔 | 不均衡性短躯低身長 | 両側性停留精巣 | 乱視 | 低ガンマグロブリン血症 | 低身長 | 偏頭痛 | 免疫グロブリン値異常 | 全般性発達遅滞 | 内反尖足 | 動脈硬化 | 動脈硬化症 | 卒中 | 卵形椎体骨 | 反復性感染症 | 呼吸困難 | 在胎月齢より小さい児 | 多発性黒子 | 大脳虚血 | 大腿骨頭の外側位置異常 | 大腿骨頭の異常 | 大腿骨骨頭骨端低形成 | 失語症 | 好中球減少症 | 子宮内成長遅滞 | 小大脳動脈動脈硬化 | 小歯 | 巣状分節性糸球体硬化症 | 常染色体潜性遺伝 | 幅広い大腿骨頭骨端 | 幅広い鼻尖 | 幅広い鼻梁 | 微小変化糸球体腎炎 | 成長遅滞 | 成長障害 (成長不全) | 扁平脊椎 | 斑 | 早産 | 構音障害 | 永久歯臼歯形態の異常 | 汎血球減少症 | 浅い寛骨臼窩 | 減歯症 | 片側不全麻痺 | 片側間代性発作 | 片麻痺 | 球状の鼻 | 甲状腺刺激ホルモン過剰症 | 甲状腺生理異常 | 異常な顔の形 | 発作 | 発熱 | 発達退行 | 知的障害 | 短い頸部 | 神経系の異常 | 筋虚弱 | 粗い毛髪 | 細い毛髪 | 肺高血圧 | 胸部後弯 | 脊椎骨端異形成 | 脳症 | 腎不全 | 腎症 | 腰椎前弯 hyperlordosis | 腸の異常 | 腹部突出 | 腹部膨満 | 膵炎 | 自己免疫 | 落ちくぼんだ鼻梁 | 虚血卒中 | 蛋白尿 | 血小板減少 | 角膜混濁 | 角膜間質混濁形成 | 貧血 | 近視 | 運動発達遅滞 | 重症 T-細胞免疫不全 | 非Hodgkin リンパ腫 | 頭痛 | 顕微血尿 | 骨減少症 | 骨盤低形成 | 骨髄細胞数増多 | 高脂血症 | 高血圧 | 高音の声" ] }, { "id": "NANDO:2201480", "label_en": "Tumor-induced hypophosphatemic osteomalacia", "label_ja": "腫瘍性骨軟化症", "yomigana": "しゅようせいこつなんかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201480", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100145", "symptoms_en_list": [ "Abnormal femur morphology | Abnormal fibula morphology | Abnormal foot morphology | Abnormal vertebral morphology | Abnormality of the tarsal bones | Bone pain | Bowing of the long bones | Decreased circulating calcitriol concentration | Elevated circulating alkaline phosphatase concentration | Fibrous dysplasia of the bones | Gait disturbance | Giant cell tumor of bone | Growth delay | Hyperphosphaturia | Hypocalcemia | Hypophosphatemia | Hypophosphatemic rickets | Increased susceptibility to fractures | Kidney stone | Kyphosis | Muscle weakness | Neoplasm of head and neck | Neoplasm of the skeletal system | Nephrocalcinosis | Osteomalacia | Osteosarcoma | Pathologic fracture | Pectus carinatum | Proximal muscle weakness | Renal phosphate wasting | Respiratory insufficiency | Tibial bowing" ], "symptoms_ja_list": [ "はと胸 | アルカリホスファターゼ上昇 | 低カルシウム血症 | 低リン血症 | 低リン血症性くる病 | 呼吸不全 | 大腿骨の異常 | 後弯 | 成長遅滞 | 易骨折性の増加 | 歩行障害 | 病的骨折 | 筋虚弱 | 脊椎の異常 | 脛骨湾曲 | 腎性リン喪失 | 腎石灰化症 | 腎結石 | 腓骨の異常 | 血清 calcitriol (1", "25-dihydroxycholecalciferol)低値 | 足の異常 | 足根骨の異常 | 近位筋虚弱 | 長管骨湾曲 | 頭頸部新生物 | 骨の巨細胞腫瘍 | 骨の線維性異形成 | 骨格新生物 | 骨痛 | 骨肉腫 | 骨軟化症 | 高リン尿" ] }, { "id": "NANDO:1201083", "label_en": "Miller Dieker syndrome", "label_ja": "ミラー・ディカー症候群", "yomigana": "みらー・でぃがーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201083", "notificationNumber": "138", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal abdominal wall morphology | Abnormal cardiovascular system morphology | Abnormal heart morphology | Abnormal upper lip morphology | Abnormality of metabolism/homeostasis | Abnormality of the cardiovascular system | Anteverted nares | Ataxia | Autosomal dominant inheritance | Camptodactyly | Cataract | Cavum septum pellucidum | Cerebral cortical atrophy | Cleft palate | Clinodactyly of the 5th finger | Contiguous gene syndrome | Cryptorchidism | Decreased fetal movement | Deep palmar crease | Delayed eruption of teeth | Duodenal atresia | EEG abnormality | Epicanthus | Epileptic spasm | Failure to thrive | Floppy infant | Frontal bossing | Gray matter heterotopia | Growth delay | High forehead | Hypoplasia of the corpus callosum | Infantile spasms | Inguinal hernia | Intellectual disability | Intrauterine growth retardation | Joint contracture of the hand | Lissencephaly | Low-set ears | Microcephaly | Micrognathia | Midline brain calcifications | Motor delay | Nephropathy | Omphalocele | Pachygyria | Pelvic kidney | Polydactyly | Polyhydramnios | Posteriorly rotated ears | Progressive spastic paraplegia | Recurrent aspiration pneumonia | Sacral dimple | Seizure | Short nose | Single transverse palmar crease | Thick upper lip vermilion | Thin upper lip vermilion | Upslanted palpebral fissure | Wide nasal bridge" ], "symptoms_ja_list": [ "てんかん性スパスム | 上口唇の異常 | 上向きの鼻孔 | 乳児スパスム | 乳児筋性筋緊張低下 | 仙骨部陥凹 | 代謝/ホメオスターシスの異常 | 停留精巣 | 内眼角贅皮 | 分厚い上口唇唇紅部 | 前頭突出", "額突出 | 十二指腸閉鎖 | 反復性誤嚥性肺炎 | 口蓋裂 | 多指趾症 | 大脳皮質萎縮 | 子宮内成長遅滞 | 小頭 | 小顎 | 屈指 | 常染色体顕性遺伝 | 幅広い鼻梁 | 循環器系の形態異常 | 心形態の異常 | 心血管系 | 成長遅滞 | 成長障害 (成長不全) | 手掌横線 | 手関節拘縮 | 正中脳石灰化 | 歯萠出遅延 | 深い手掌屈曲線 | 滑脳症 | 発作 | 白内障 | 眼瞼裂斜上 | 知的障害 | 短い鼻 | 第5指弯指 | 組織異所発生 | 羊水過多 | 耳介低位 | 耳介後方回転 | 胎動減少 | 脳回肥厚 | 脳梁低形成 | 脳波異常 | 腎症 | 腹壁の異常 | 臍帯ヘルニア | 薄い上口唇唇紅部 | 透明中隔嚢胞 | 進行性痙性対麻痺 | 運動失調 | 運動発達遅滞 | 隣接遺伝子症候群 | 骨盤腎 | 高い額 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200979", "label_en": "Neonatal intrahepatic cholestasis caused by citrin deficiency", "label_ja": "新生児肝内胆汁うっ滞症", "yomigana": "しんせいじかんないたんじゅううったいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200979", "notificationNumber": "318", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal bleeding | Abnormal circulating alanine concentration | Abnormal circulating arginine concentration | Abnormal circulating glutamine concentration | Abnormal circulating lipid concentration | Abnormal circulating serine concentration | Anemia | Autosomal recessive inheritance | Cataract | Cholestasis | Cirrhosis | Conjugated hyperbilirubinemia | Decreased circulating HDL-C concentration | Decreased circulating immunoglobulin concentration | Diarrhea | Elevated circulating LDL-C concentration | Elevated circulating alkaline phosphatase concentration | Elevated circulating alpha-fetoprotein concentration | Elevated circulating hepatic transaminase concentration | Elevated plasma citrulline | Failure to thrive | Failure to thrive in infancy | Gastrointestinal hemorrhage | Growth delay | Hepatic steatosis | Hepatomegaly | Hepatosplenomegaly | Hyperammonemia | Hyperbilirubinemia | Hypercholesterolemia | Hypergalactosemia | Hyperlysinemia | Hypermethioninemia | Hyperthreoninemia | Hypertriglyceridemia | Hypertyrosinemia | Hypoalbuminemia | Increased serum bile acid concentration | Intrahepatic cholestasis | Intrauterine growth retardation | Jaundice | Ketonuria | Lactic acidosis | Macrovesicular hepatic steatosis | Microvesicular hepatic steatosis | Neonatal onset | Poor appetite | Portal fibrosis | Prolonged prothrombin time" ], "symptoms_ja_list": [ "α-フェトプロテイン上昇 | アラニン代謝の異常 | アルカリホスファターゼ上昇 | アルギニン代謝の異常 | グルタミン代謝の異常 | ケトン尿 | セリン代謝の異常 | プロトロンビン時間遷延 | 下痢 | 乳児期の成長障害 (成長不全) | 乳酸性アシドーシス | 低ガンマグロブリン血症 | 子宮内成長遅滞 | 小血管脂肪肝 | 巨大血管性脂肪肝 | 常染色体潜性遺伝 | 成長遅滞 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 異常な出血 | 白内障 | 肝トランスアミナーゼ上昇 | 肝内胆汁うっ滞 | 肝硬変 | 肝脾腫 | 肝腫 | 胃腸出血 | 胆汁うっ滞 | 脂肪肝 | 脂質代謝の異常 | 血清胆汁酸濃度の増加 | 血漿シトルリン上昇 | 貧血 | 門脈線維症 | 食思不振 | 高αリポ蛋白血症 | 高βリポタンパク血症 | 高アルブミン血症 | 高アンモニア血症 | 高ガラクトース血症 | 高コレステロール血症 | 高スレオニン血症 | 高チロシン血症 | 高トリグリセリド血症 | 高ビリルビン血症 | 高メチオニン血症mia | 高リジン血症 | 黄疸" ] }, { "id": "NANDO:2200709", "label_en": "PMS2 deficiency", "label_ja": "PMS2異常症", "yomigana": "ぴーえむえす2いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200709", "notificationNumber": "53", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201259", "label_en": "Ehlers-Danlos syndrome, kyphoscoliotic type", "label_ja": "後側彎型エーラス・ダンロス症候群", "yomigana": "こうそくわんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201259", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100172", "symptoms_en_list": [ "Abnormal bleeding | Abnormal circulating enzyme concentration or activity | Abnormal pinna morphology | Abnormal venous morphology | Aortic aneurysm | Aortic dissection | Arachnodactyly | Arterial dissection | Atrophic scars | Atypical scarring of skin | Autosomal recessive inheritance | Bladder diverticulum | Blindness | Blue sclerae | Bruising susceptibility | Congenital bilateral hip dislocation | Congenital hip dislocation | Congestive heart failure | Decreased fetal movement | Decreased muscle mass | Delayed gross motor development | Dental crowding | Depressed nasal bridge | Diminished deep tendon reflex | Disproportionate tall stature | Downslanted palpebral fissures | EMG: myopathic abnormalities | Elbow flexion contracture | Epicanthus | Excessive wrinkled skin | Follicular hyperkeratosis | Fragile skin | Gastrointestinal hemorrhage | Generalized joint hypermobility | Generalized muscle weakness | Glaucoma | High", "narrow palate | Hip dislocation | Hyperextensible skin | Hypermetropia | Hypotonia | Impaired vibratory sensation | Inguinal hernia | Joint dislocation | Joint hypermobility | Keratoconus | Kyphoscoliosis | Limb muscle weakness | Microcornea | Mitral valve prolapse | Molluscoid pseudotumors | Muscle fiber atrophy | Muscle weakness | Myopia | Neonatal hypotonia | Osteopenia | Osteoporosis | Palmoplantar cutis laxa | Patellar dislocation | Pectus excavatum | Peripheral axonal neuropathy | Pes planus | Platyspondyly | Poor wound healing | Premature rupture of membranes | Progressive congenital scoliosis | Protrusio acetabuli | Ptosis | Recurrent pneumonia | Respiratory insufficiency | Restrictive ventilatory defect | Retinal detachment | Shoulder subluxation | Soft skin | Strabismus | Talipes equinovarus | Tall stature | Thin ribs | Thin skin | Thoracic kyphoscoliosis | Thoracic scoliosis | Trigonocephaly | Umbilical hernia | Vascular dilatation" ], "symptoms_ja_list": [ "うっ血性心不全 | くも指 | 三角頭蓋 | 不均衡型高身長 | 傷治癒不全 | 僧帽弁逸脱 | 先天性両側性股関節脱臼 | 先天性股関節脱臼 | 全身性筋虚弱 | 全身性関節弛緩 | 内反尖足 | 内眼角贅皮 | 円錐角膜 | 出血傾向 | 前期破水 | 動脈瘤 | 動脈解離 | 反復性肺炎 | 呼吸不全 | 四肢筋虚弱 | 大動脈瘤 | 大動脈解離 | 寛骨臼突出 | 小角膜 | 常染色体潜性遺伝 | 後側弯 | 扁平脊椎 | 扁平足 | 拘束性肺疾患 | 振動覚障害 | 掌蹠弛緩性皮膚 | 斜視 | 新生児筋緊張低下 | 末梢神経軸索ニューロパチー | 柔らかい皮膚 | 歯混雑 | 毛包過角化症 | 漏斗胸 | 異常な出血 | 盲 | 眼瞼下垂 | 眼瞼裂斜下 | 筋緊張低下 | 筋線維萎縮 | 筋虚弱 | 筋量減少 | 筋電図: ミオパチー異常 | 粗大運動発達遅延 | 細い肋骨 | 網膜剥離 | 緑内障 | 耳介の異常 | 肘屈曲拘縮 | 股関節脱臼 | 肩亜脱臼 | 胃腸出血 | 胎動減少 | 胸部側弯 | 胸部後側弯 | 脆い皮膚 | 腱反射減少 | 膀胱憩室 | 膝蓋骨脱臼 | 臍ヘルニア | 萎縮性瘢痕 | 落ちくぼんだ鼻梁 | 薄い皮膚 | 軟属腫様偽腫瘍 | 近視 | 進行性先天性側弯 | 過伸展皮膚 | 過剰な皺の多い皮膚 | 遠視 | 関節脱臼 | 関節過動 | 青色胸膜 sclerae | 静脈異常 | 非典型的皮膚瘢痕 | 骨減少症 | 骨粗鬆症 | 高度/補酵素活性異常 | 高狭口蓋 | 高身長 | 鼠径ヘルニア" ] }, { "id": "NANDO:2100016", "label_en": "Renovascular hypertension", "label_ja": "腎血管性高血圧", "yomigana": "じんけっかんせいこうけつあつ", "url": "http://nanbyodata.jp/ontology/NANDO_2100016", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200341", "label_en": "Hepatic veno-occlusive disease with immunodeficiency", "label_ja": "肝中心静脈閉鎖症を伴う免疫不全症", "yomigana": "かんちゅうしんじょうみゃくへいさしょうをともなうめんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200341", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal circulating interleukin concentration | Abnormality of the liver | Absence of lymph node germinal center | Anemia | Ascites | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Chronic hepatic failure | Cough | Decreased circulating IgG concentration | Decreased total T cell count | Diarrhea | Elevated circulating hepatic transaminase concentration | Endocardial fibrosis | Failure to thrive in infancy | Hemiparesis | Hepatomegaly | Hepatosplenomegaly | Immunodeficiency | Jaundice | Leukodystrophy | Microcephaly | Pancytopenia | Panhypogammaglobulinemia | Paraparesis | Paraplegia | Portal hypertension | Pulmonary fibrosis | Recurrent abscess formation | Recurrent aspiration pneumonia | Recurrent enteroviral infections | Recurrent mucocutaneous candidiasis | Recurrent respiratory infections | Recurrent viral infections | Thrombocytopenia | Urinary retention" ], "symptoms_ja_list": [ "IgG欠乏症 | T リンパ球減少症 | インターロイキン分泌の異常 | リンパ節胚中心の異常 | ロイコジストロフィー | 下痢 | 不全対麻痺 | 不全麻痺 | 乳児期の成長障害 (成長不全) | 免疫不全 | 全身性間代性強直性発作 | 反復性ウイルス感染症 | 反復性エンテロウイルス感染症 | 反復性呼吸器感染症 | 反復性膿瘍形成 | 反復性誤嚥性肺炎 | 外層 | 小頭 | 尿閉 | 常染色体潜性遺伝 | 心内膜線維症 | 慢性粘膜皮膚カンジダ症 | 慢性肝不全 | 汎低ガンマグロブリン血症 | 汎血球減少症 | 片側不全麻痺 | 肝の異常 | 肝トランスアミナーゼ上昇 | 肝脾腫 | 肝腫 | 肺線維症 | 腹水 | 血小板減少 | 貧血 | 門脈圧亢進 | 黄疸" ] }, { "id": "NANDO:2200016", "label_en": "Other leukemia", "label_ja": "1から15までに掲げるもののほか、白血病", "yomigana": "1から15までにかかげるもののほか、はっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200016", "notificationNumber": "85", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200235", "label_en": "Endocardial fibroelastosis", "label_ja": "心内膜線維弾性症", "yomigana": "しんないまくせんいだんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200235", "notificationNumber": "45", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100060", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal helix morphology | Abnormal palate morphology | Anterior hypopituitarism | Cognitive impairment | Congestive heart failure | Cryptorchidism | Endocardial fibroelastosis | Hypoglycemia | Hypoplasia of penis | Micrognathia | Posteriorly rotated ears | Restrictive cardiomyopathy | Sandal gap | Seizure | Telecanthus" ], "symptoms_ja_list": [ "うっ血性心不全 | サンダルギャップ | 下垂体前葉機能低下症 | 低血糖 | 停留精巣 | 内眼角外方偏位 | 口蓋の異常 | 外耳輪の異常 | 小顎 | 循環器系の形態異常 | 心内膜線維弾性症 | 拘束性心筋症 | 発作 | 耳介後方回転 | 認知障害 | 陰茎低形成" ] }, { "id": "NANDO:1200572", "label_en": "Focal cortical dysplasia type 3c", "label_ja": "限局性皮質異形成タイプ3c", "yomigana": "げんきょくせいひしついけいせいたいぷ3しー", "url": "http://nanbyodata.jp/ontology/NANDO_1200572", "notificationNumber": "137", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201238", "label_en": "Intermediate severe Salla disease", "label_ja": "中間型遊離シアル酸蓄積症", "yomigana": "ちゅうかんがたゆうりしあるさんちくせきしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201238", "notificationNumber": "137", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200701", "label_en": "Complete transposition of the great arteries (Group2)", "label_ja": "完全大血管転位症II型", "yomigana": "かんぜんだいけっかんてんいしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200701", "notificationNumber": "209", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal atrioventricular conduction | Abnormal atrioventricular valve morphology | Abnormal heart morphology | Abnormal left ventricular outflow tract morphology | Abnormal tricuspid valve morphology | Ambiguous atrioventricular connection | Aortic regurgitation | Arrhythmia | Atrial flutter | Atrial septal defect | Atrial situs ambiguous | Atrial situs inversus | Bilateral superior vena cava with bridging vein | Bradycardia | Congestive heart failure | Cyanosis | Dextrocardia | Discordant atrioventricular connection | Double aortic arch | Double outlet left ventricle | Easy fatigability | Ebstein anomaly of the tricuspid valve | Failure to thrive | First degree atrioventricular block | Food intolerance | Gerbode ventricular septal defect | Global systolic dysfunction | Heart block | Mesocardia | Mobitz I atrioventricular block | Patent ductus arteriosus | Perimembranous ventricular septal defect | Premature atrial contractions | Pulmonary artery atresia | Pulmonic stenosis | Right ventricular cardiomyopathy | Sick sinus syndrome | Single ventricle | Situs inversus totalis | Supraventricular tachycardia | Supraventricular tachycardia with an accessory connection mediated pathway | Third degree atrioventricular block | Tricuspid regurgitation | Ventricular septal defect | Ventricular tachycardia | Wolff-Parkinson-White syndrome" ], "symptoms_ja_list": [ "1度房室ブロック | 3度房室ブロック | Gerbode 心室中隔欠損 | Mobitz I 型房室ブロック | Wolff-Parkinson-White 症候群 | うっ血性心不全 | チアノーゼ | 三尖弁のEbstein 奇形 | 三尖弁の異常 | 三尖弁逆流 | 上室性頻拍 | 不整脈 | 不明瞭な房室結合 | 両大血管左室起始症 | 全内臓逆位 | 全身性収縮期機能障害 | 分枝静脈を伴う両側性上大静脈 | 副伝導路系を伴う上室性頻拍 | 動脈不定位 | 動脈管開存症 | 動脈逆位 | 単心室 | 右室心筋症 | 右胸心 | 大動脈逆流 | 左室拍出路の異常 | 徐脈 | 心ブロック | 心室中隔欠損 | 心室性 頻拍 | 心形態の異常 | 心房中隔欠損 | 心房粗動 | 成長障害 (成長不全) | 房室弁の異常 | 房室結合不一致 | 易疲労性 | 洞結節不全症候群 | 異常な房室電動 | 異所性上室律動 | 肺動脈狭窄 | 肺動脈閉鎖 | 胸郭中央位心臓 | 膜様部周囲心室中隔欠損 | 重複大動脈弓 | 食物不耐性" ] }, { "id": "NANDO:1200374", "label_en": "Diencephalo-hypophysial insufficiency-inappropriate ADH syndrome", "label_ja": "下垂体性ADH分泌異常症", "yomigana": "かすいたいせいえーでぃーえいちぶんぴついじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200374", "notificationNumber": "72", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200680", "label_en": "Noonan syndrome", "label_ja": "ヌーナン症候群", "yomigana": "ぬーなんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200680", "notificationNumber": "195", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal EKG | Abnormal bleeding | Abnormal cardiovascular system morphology | Abnormal dermatoglyphics | Abnormal hair quantity | Abnormal platelet function | Abnormal pulmonary valve morphology | Abnormal speech pattern | Abnormality of coagulation | Abnormality of the genital system | Abnormality of the lymphatic system | Abnormality of the spleen | Aplasia of the semicircular canal | Aplasia/Hypoplasia of the abdominal wall musculature | Arrhythmia | Atrial septal defect | Blue irides | Brachydactyly | Bruising susceptibility | Clinodactyly of the 5th finger | Coarctation of aorta | Coarse hair | Cryptorchidism | Cystic hygroma | Delayed menarche | Delayed skeletal maturation | Dilatation of the renal pelvis | Downslanted palpebral fissures | Dysarthria | Enlarged thorax | Feeding difficulties in infancy | Hepatomegaly | High forehead | High palate | Hypertelorism | Hypertrophic cardiomyopathy | Hypogonadotropic hypogonadism | Hypotonia | Intellectual disability | Joint hypermobility | Juvenile myelomonocytic leukemia | Low posterior hairline | Lymphedema | Melanocytic nevus | Micrognathia | Midface retrusion | Muscle weakness | Neurodevelopmental delay | Nystagmus | Osteopenia | Patent ductus arteriosus | Pectus carinatum | Pectus excavatum | Posteriorly rotated ears | Postnatal growth retardation | Proptosis | Ptosis | Pulmonary artery stenosis | Radioulnar synostosis | Scoliosis | Sensorineural hearing impairment | Short stature | Specific learning disability | Strabismus | Thick lower lip vermilion | Thickened helices | Thickened nuchal skin fold | Triangular face | Webbed neck | Wide intermamillary distance" ], "symptoms_ja_list": [ "はと胸 | メラニン細胞母斑 | リンパ性浮腫 | リンパ系の異常 | 三半規管無形成 | 三角形の顔 | 不整脈 | 両眼隔離 | 低ゴナドトロピン性性腺機能低下症 | 低身長 | 停留精巣 | 側弯 | 凝固の異常 | 出血傾向 | 分厚い下口唇唇紅部 | 分厚い後部皮膚ヒダ | 分厚い耳輪 | 初潮遅延 | 動脈管開存症 | 大動脈縮窄 | 小顎 | 幅広い乳頭間距離 | 後部毛髪線低位 | 循環器系の形態異常 | 心房中隔欠損 | 心電図異常 | 性器異常 | 感音難聴 | 斜視 | 構音障害 | 橈尺骨癒合 | 水滑性嚢腫 | 漏斗胸 | 特異的学習障害 | 生後の成長遅滞 | 異常な出血 | 異常な毛髪量 | 異常な皮膚紋理 | 眼振 | 眼球突出 | 眼瞼下垂 | 眼瞼裂斜下 | 知的障害 | 短指症候群 | 神経学的発語障害 | 神経発生遅延 | 第5指弯指 | 筋緊張低下 | 筋虚弱 | 粗い毛髪 | 翼状頚 | 耳介後方回転 | 肝腫 | 肥大型心筋症 | 肺動脈弁の異常 | 肺動脈狭窄 | 胸郭拡大 | 脾の異常 | 腎盂拡張 | 腹壁筋無形成/低形成 | 若年性骨髄単球性白血病 | 血小板機能の異常 | 関節過動 | 青色虹彩 | 顔面中部後退 | 食餌摂取障害 in infancy | 骨格骨化遅延 | 骨減少症 | 高い額 | 高口蓋" ] }, { "id": "NANDO:2201489", "label_en": "Symptomatic syringomyelia", "label_ja": "症候性脊髄空洞症", "yomigana": "しょうこうせいせきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201489", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200726", "label_en": "Autoimmune lymphoproliferative syndrome", "label_ja": "自己免疫性リンパ増殖症候群", "yomigana": "じこめんえきせいりんぱぞうしょくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200726", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Abnormal bleeding | Abnormal circulating interleukin concentration | Antineutrophil antibody positivity | Antinuclear antibody positivity | Antiphospholipid antibody positivity | Arthritis | Autoimmune hemolytic anemia | Autoimmune neutropenia | Autoimmune thrombocytopenia | Autoimmunity | B-cell lymphoma | Basal cell carcinoma | Bone marrow hypocellularity | Bruising susceptibility | Chronic noninfectious lymphadenopathy | Colitis | Coombs-positive hemolytic anemia | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased specific anti-polysaccharide antibody concentration | Decreased total lymphocyte count | Fibroadenoma of the breast | Gastritis | Glomerulonephritis | Headache | Hepatitis | Hepatocellular carcinoma | Hepatomegaly | Hodgkin lymphoma | Hydrops fetalis | Hypersplenism | Increased circulating IgA concentration | Increased circulating IgE concentration | Increased circulating IgG concentration | Increased circulating immunoglobulin concentration | Increased double-negative T cell number | Increased total B cell count | Increased total eosinophil count | Increased total lymphocyte count | Lymphadenopathy | Neoplasm of the skin | Neoplasm of the tongue | Non-Hodgkin lymphoma | Panniculitis | Premature ovarian insufficiency | Pulmonary fibrosis | Pulmonary infiltrates | Recurrent aphthous stomatitis | Renal insufficiency | Reticulocytosis | Rheumatoid factor positive | Seizure | Splenomegaly | Systemic lupus erythematosus | T-cell lymphoma | Thyroid adenoma | Thyroid carcinoma | Thyroiditis | Urticaria | Uveitis | Vasculitis" ], "symptoms_ja_list": [ "B 細胞数増加 | B-細胞リンパ腫 | Coombs 陽性溶血性貧血 | Hodgkin リンパ腫 | IgA 値増加 | IgE 値増加 | IgG 値増加 | IgG欠乏症 | IgM欠乏症 | T-細胞リンパ腫 | α/β T-細胞受容体を発現するCD4-/CD8- T 細胞の増加 | インターロイキン分泌の異常 | ブドウ膜炎 | リウマチ因子陽性 | リンパ球増多症 | リンパ球減少症 | リンパ節腫大 | 乳房線維腫 | 全身性紅斑性狼瘡 | 出血傾向 | 反復性アフタ性口内炎 | 基底細胞癌 | 好酸球増多症 | 慢性非感染性リンパ節腫大; | 抗リン脂質抗体陽性 | 抗好中球抗体陽性 | 抗核抗体陽性 | 早発性卵巣不全 | 特異的抗多糖類抗体欠乏症 | 甲状腺炎 | 甲状腺癌 | 甲状腺腺腫 | 異常な出血 | 発作 | 皮膚新生物 | 糸球体腎炎 | 結腸炎 | 網状赤血球増多症 | 肝炎 | 肝細胞癌 | 肝腫 | 肺浸潤 | 肺線維症 | 胃炎 | 胎児水腫 | 脂肪織炎 | 脾機能亢進 | 脾腫 | 腎不全 | 自己免疫 | 自己免疫性好中球減少症 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 舌新生物 | 蕁麻疹 | 血管炎 | 関節炎 | 非Hodgkin リンパ腫 | 頭痛 | 骨髄細胞数増多 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2200772", "label_en": "Herpes simplex encephalitis", "label_ja": "単純ヘルペス脳炎", "yomigana": "たんじゅんへるぺすのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200772", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Abnormal brain morphology | Abnormal speech pattern | CSF lymphocytic pleiocytosis | Cerebral edema | Coma | EEG abnormality | Elevated circulating C-reactive protein concentration | Excessive daytime somnolence | Fatigue | Fever | Focal aware seizure | Focal impaired awareness seizure | Functional motor deficit | Headache | Hyperreflexia | Hypoglycorrhachia | Hyponatremia | Immunodeficiency | Increased CSF protein concentration | Increased total leukocyte count | Increased total neutrophil count | Loss of consciousness | Nausea and vomiting | Reduced consciousness | Respiratory failure requiring assisted ventilation | Seizure | Status epilepticus" ], "symptoms_ja_list": [ "CRP 上昇 | てんかん重積 | 低ナトリウム血症 | 免疫不全 | 反射亢進 | 吐気と 嘔吐 | 嗜眠 | 大脳浮腫 | 好中球増多症 | 意識または覚醒障害を伴う焦点性発作 | 意識または覚醒障害を伴わない焦点性発作 | 意識喪失 | 意識減少/混乱 | 昏睡 | 機能的筋異常 | 疲労 | 発作 | 発熱 | 白血球増多症 | 神経学的発語障害 | 脳形態の異常 | 脳波異常 | 補助換気が必要な呼吸不全 | 頭痛 | 髄液タンパクの増加 | 髄液リンパ球増多症 | 髄液糖減少症" ] }, { "id": "NANDO:2200250", "label_en": "Single ventricle", "label_ja": "単心室症", "yomigana": "たんしんしつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200250", "notificationNumber": "68", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100072", "symptoms_en_list": [ "Arrhythmia | Cardiomegaly | Congestive heart failure | Cyanosis | Esophageal varix | Failure to thrive | Hepatomegaly | Hypoplastic left ventricle | Hypoxemia | Respiratory distress | Tachypnea" ], "symptoms_ja_list": [ "うっ血性心不全 | チアノーゼ | 不整脈 | 低酸素血症への感受性の減少 | 呼吸窮迫 | 多呼吸 | 左心低形成 | 心拡大 | 成長障害 (成長不全) | 肝腫 | 食道静脈瘤" ] }, { "id": "NANDO:2200387", "label_en": "Ovotesticular dsd", "label_ja": "卵精巣性性分化疾患", "yomigana": "らんせいそうせいせいぶんかしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200387", "notificationNumber": "53", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100140", "symptoms_en_list": [ "Abnormal male internal genitalia morphology | Abnormal morphology of female internal genitalia | Abnormal scrotal rugation | Abnormality of the uterus | Ambiguous genitalia | Bifid scrotum | Cryptorchidism | Decreased fertility | Hypoplasia of penis | Hypospadias | Polycystic ovaries | Small scrotum | True hermaphroditism | Urogenital sinus anomaly" ], "symptoms_ja_list": [ "二分陰嚢 | 停留精巣 | 多嚢胞性卵巣 | 女性内性器異常 | 妊孕性減少 | 子宮異常 | 尿道下裂 | 性別不明の外性器 | 泌尿生殖洞奇形 | 男性内性器異常 | 真性半陰陽 | 陰嚢ヒダ異常 | 陰嚢低形成 | 陰茎低形成" ] }, { "id": "NANDO:1200877", "label_en": "Achondroplasia", "label_ja": "軟骨無形成症", "yomigana": "なんこつむけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200877", "notificationNumber": "276", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal iliac wing morphology | Abnormal midface morphology | Acanthosis nigricans | Anteverted nares | Autosomal dominant inheritance | Bowing of the legs | Brachydactyly | Brain stem compression | Central sleep apnea | Cervical spinal canal stenosis | Choanal stenosis | Conductive hearing impairment | Congenital onset | Death in infancy | Depressed nasal bridge | Disproportionate short stature | Feeding difficulties | Femoral bowing | Flared metaphysis | Flat acetabular roof | Floppy infant | Frontal bossing | Functional abnormality of the middle ear | Generalized joint hypermobility | Genu varum | Hearing impairment | Hydrocephalus | Hypoxemia | Kyphosis | Limb undergrowth | Limited elbow extension | Limited hip extension | Lumbar hyperlordosis | Lumbar kyphosis in infancy | Macrocephaly | Malar flattening | Megalencephaly | Midface retrusion | Motor delay | Narrow greater sciatic notch | Narrow vertebral interpedicular distance | Neonatal short-limb short stature | Obesity | Obstructive sleep apnea | Parietal bossing | Polyhydramnios | Premature rupture of membranes | Pulmonary hypoplasia | Radial bowing | Recurrent otitis media | Respiratory distress | Restrictive ventilatory defect | Rhizomelia | Severe platyspondyly | Short femoral neck | Short femur | Short long bone | Short middle phalanx of finger | Short nasal bridge | Short proximal phalanx of finger | Short ribs | Small foramen magnum | Spinal canal stenosis | Spinal stenosis with reduced interpedicular distance | Thoracic hypoplasia | Thoracolumbar kyphosis | Trident hand | Ulnar bowing | Upper airway obstruction | Wide anterior fontanel" ], "symptoms_ja_list": [ "上向きの鼻孔 | 上気道閉塞 | 下肢湾曲 | 不均衡型低身長 | 中枢性睡眠時無呼吸 | 中耳機能異常 | 乳児筋性筋緊張低下 | 伝音難聴 | 低酸素血症への感受性の減少 | 全身性関節弛緩 | 内反膝 | 前期破水 | 前頭突出", "額突出 | 反復性中耳炎 | 呼吸窮迫 | 四肢成長不全 | 四肢近位短縮 | 大腿骨湾曲 | 大頭 | 小さい大孔 | 尺骨湾曲 | 巨大脳症 | 常染色体顕性遺伝 | 幅広い大泉門 | 平坦な寛骨臼蓋 | 平坦な頬 | 後弯 | 後鼻孔狭窄 | 拘束性肺疾患 | 新生児短い-四肢低身長 | 椎弓根間距離減少を伴う脊椎狭窄 | 橈側湾曲 | 水頭症 | 狭い大仙坐骨切痕 | 狭い脊椎椎弓根間距離 | 短い大腿骨 | 短い大腿骨頸部 | 短い指の基節骨 | 短い指中節骨 | 短い肋骨 | 短い長管骨 | 短い鼻梁 | 短指症候群 | 羊水過多 | 肘伸展制限 | 股関節伸展制限 | 肥満 | 肺低形成 | 胸腰椎後弯 | 胸郭低形成 | 脊椎管狭窄 | 脳幹圧迫 | 腰椎前弯 hyperlordosis | 腰椎後弯 (乳児期の) | 腸骨翼の異常 | 落ちくぼんだ鼻梁 | 運動発達遅滞 | 重度の扁平脊椎 | 鉾状の手 | 閉塞性睡眠時無呼吸 | 難聴 | 頚椎管後索 | 頭頂突出 | 顔面中部の異常 | 顔面中部後退 | 食餌摂取障害 | 骨幹端フレア | 黒色表皮腫" ] }, { "id": "NANDO:1201175", "label_en": "Phosphorylase kinase deficiency", "label_ja": "ホスホリラーゼキナーゼ欠損症", "yomigana": "ほすほりらーぜきなーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201175", "notificationNumber": "338", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Childhood onset | Elevated circulating hepatic transaminase concentration | Fatigue | Growth delay | Hepatomegaly | Hypercholesterolemia | Hypertriglyceridemia | Hyperuricemia | Hypoglycemia | Hypotonia | Infantile onset | Juvenile onset | Ketosis | Lactic acidosis | Motor delay | Splenomegaly | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | ケトン症 | 乳酸性アシドーシス | 低血糖 | 成長遅滞 | 疲労 | 筋緊張低下 | 肝トランスアミナーゼ上昇 | 肝腫 | 脾腫 | 運動発達遅滞 | 高コレステロール血症 | 高トリグリセリド血症 | 高尿酸血症" ] }, { "id": "NANDO:2200303", "label_en": "Mitral regurgitation", "label_ja": "僧帽弁閉鎖不全症", "yomigana": "そうぼうべんへいさふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200303", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100105", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201158", "label_en": "Glycogen storage disease type 3d", "label_ja": "糖原病IIId型", "yomigana": "とうげんびょう3でぃーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201158", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200695", "label_en": "Truncus arteriosus communis type II", "label_ja": "総動脈幹遺残症II型", "yomigana": "そうどうみゃくかんいざんしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200695", "notificationNumber": "207", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201092", "label_en": "Vitamin D-dependent rickets, type 1A", "label_ja": "ビタミンD依存症 1A型", "yomigana": "びたみんでぃーいぞんしょう1えーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201092", "notificationNumber": "239", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abdominal wall muscle weakness | Abnormal circulating chloride concentration | Autosomal recessive inheritance | Bone pain | Bowing of the legs | Bulging epiphyses | Bulging of the costochondral junction | Childhood onset | Decreased circulating calcifediol concentration | Decreased circulating calcitriol concentration | Deformed rib cage | Delayed epiphyseal ossification | Delayed eruption of teeth | Difficulty standing | Elevated circulating alkaline phosphatase concentration | Elevated circulating parathyroid hormone level | Enamel hypoplasia | Enlargement of the ankles | Enlargement of the costochondral junction | Enlargement of the wrists | Failure to thrive | Femoral bowing | Fibular bowing | Flat occiput | Frontal bossing | Gait disturbance | Generalized aminoaciduria | Generalized hypotonia | Growth delay | Hypocalcemia | Hypocalcemic seizures | Hypocalciuria | Hypophosphatemia | Hypotonia | Infantile onset | Irritability | Ketonuria | Metabolic acidosis | Metaphyseal cupping | Metaphyseal irregularity | Motor delay | Muscle weakness | Postnatal growth retardation | Protuberant abdomen | Rachitic rosary | Recurrent fractures | Reduced subcutaneous adipose tissue | Renal phosphate wasting | Rickets | Secondary hyperparathyroidism | Sparse bone trabeculae | Subperiosteal bone resorption | Thin bony cortex | Tibial bowing | Widely patent fontanelles and sutures" ], "symptoms_ja_list": [ "くる病 | くる病性念珠 | アルカリホスファターゼ上昇 | クロールホメオスターシスの異常 | ケトン尿 | 下肢湾曲 | 二次性副甲状腺機能亢進症 | 二次性副甲状腺機能亢進症による骨膜下びらん | 代謝性アシドーシス | 低カルシウム尿 | 低カルシウム血症 | 低カルシウム血症性発作 | 低リン血症 | 全身性筋緊張低下 | 前頭突出", "額突出 | 反復性骨折 | 変形した肋骨胸郭 | 大腿骨湾曲 | 常染色体潜性遺伝 | 平坦な後頭 | 循環性副甲状腺ホルモン(PTH) 値上昇 | 成長遅滞 | 成長障害 (成長不全) | 手関節の拡大 | 歩行障害 | 歯エナメル質低形成 | 歯萠出遅延 | 汎アミノ酸尿 | 泉門および縫合開大 | 生後の成長遅滞 | 疎な骨梁 | 皮下脂肪組織減少 | 突出した骨端 | 筋緊張低下 | 筋虚弱 | 肋軟骨接合部の拡大 | 肋軟骨接合部突出 | 脛骨湾曲 | 腎性リン喪失 | 腓骨湾曲 | 腹筋虚弱 | 腹部突出 | 薄い骨皮質 | 血清 calcifediol (25-hydroxycholecalciferol)低値 | 血清 calcitriol (1", "25-dihydroxycholecalciferol)低値 | 被刺激性 | 起立困難 | 足関節の拡大 | 運動発達遅滞 | 骨幹端カッピング | 骨幹端不規則性 | 骨痛 | 骨端骨化遅延" ] }, { "id": "NANDO:2200971", "label_en": "Costello syndrome", "label_ja": "コステロ症候群", "yomigana": "こすてろしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200971", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal dental enamel morphology | Abnormal dermatoglyphics | Abnormal fingernail morphology | Abnormal hair morphology | Abnormality of the dentition | Abnormality of the skin | Acanthosis nigricans | Achilles tendon contracture | Anteverted nares | Arrhythmia | Astigmatism | Atrial septal defect | Autosomal dominant inheritance | Barrel-shaped chest | Bladder carcinoma | Bronchomalacia | Cerebral atrophy | Cerebral cortical atrophy | Chiari type I malformation | Coarse facial features | Concave nail | Cryptorchidism | Curly hair | Deep palmar crease | Deep plantar creases | Deep-set nails | Delayed skeletal maturation | Depressed nasal bridge | Downslanted palpebral fissures | Enlarged cerebellum | Epicanthus | Failure to thrive | Failure to thrive in infancy | Feeding difficulties in infancy | Fragile nails | Full cheeks | Gastroesophageal reflux | Generalized hyperpigmentation | Global developmental delay | High palate | Hoarse voice | Hydrocephalus | Hyperextensibility of the finger joints | Hyperkeratosis | Hypermetropia | Hyperpigmentation of the skin | Hypertelorism | Hypertrophic cardiomyopathy | Hypoglycemia | Hypoplastic toenails | Intellectual disability | Joint hypermobility | Keratoconus | Lack of skin elasticity | Large earlobe | Large face | Limited elbow movement | Low-set ears | Macrocephaly | Macroglossia | Micrognathia | Mitral valve prolapse | Myopia | Narrow palate | Nevus | Nystagmus | Obstructive sleep apnea | Optic disc pallor | Overgrowth | Papilloma | Pectus carinatum | Pneumothorax | Pointed chin | Polyhydramnios | Poor suck | Posteriorly rotated ears | Premature birth | Ptosis | Pulmonic stenosis | Pyloric stenosis | Redundant neck skin | Redundant skin | Renal insufficiency | Respiratory failure | Respiratory insufficiency | Rhabdomyosarcoma | Short neck | Short stature | Sparse hair | Sporadic | Strabismus | Sudden death | Talipes equinovarus | Thick lower lip vermilion | Thickened Achilles tendon | Thickened nuchal skin fold | Thin nail | Tracheomalacia | Ulnar deviation of finger | Ventricular septal defect | Ventriculomegaly | Vestibular schwannoma | Webbed neck | Wide anterior fontanel | Woolly hair" ], "symptoms_ja_list": [ "I 型Arnold-Chiari 奇形 | はと胸 | アキレス腱拘縮 | アキレス腱肥厚 | カール毛 | 上向きの鼻孔 | 不整脈 | 両眼隔離 | 乱視 | 乳児期の成長障害 (成長不全) | 乳頭腫 | 低血糖 | 低身長 | 停留精巣 | 僧帽弁逸脱 | 全般性発達遅滞 | 全身性高色素 | 内反尖足 | 内眼角贅皮 | 円錐角膜 | 凹爪 | 分厚い下口唇唇紅部 | 分厚い後部皮膚ヒダ | 前庭シュワン細胞腫 | 吸啜不全 | 呼吸不全 | 嗄声 | 大きな耳朶 | 大きな頬 | 大きな顔 | 大脳皮質萎縮 | 大脳萎縮 | 大頭 | 孤発性 | 小脳拡大 | 小顎 | 尖った下顎 | 巨舌 | 常染色体顕性遺伝 | 幅広い大泉門 | 幽門狭窄 | 心室中隔欠損 | 心房中隔欠損 | 成長障害 (成長不全) | 指の尺側偏位 | 指爪の異常 | 指関節過伸展 | 斜視 | 早産 | 横紋筋肉腫 | 樽状胸 | 歯の異常 | 歯エナメル質異常 | 母斑 | 毛髪の異常 | 気管支軟化症 | 気管軟化症 | 気胸 | 水頭症 | 深い手掌屈曲線 | 深い足底屈曲線 | 深くセットされた爪 | 狭い口蓋 | 異常な皮膚紋理 | 疎な毛髪 | 皮膚の異常 | 皮膚弾性欠如 | 皮膚高色素 | 眼振 | 眼瞼下垂 | 眼瞼裂斜下 | 知的障害 | 短い頸部 | 粗な顔貌 | 羊毛様毛髪 | 羊水過多 | 翼状頚 | 耳介低位 | 耳介後方回転 | 肘運動制限 | 肥大型心筋症 | 肺動脈狭窄 | 胃食道逆流 | 脆い爪 nails | 脳室拡大 | 腎不全 | 膀胱癌 | 落ちくぼんだ鼻梁 | 薄い爪 | 視神経杯蒼白 | 豊富な頸部皮膚 | 趾爪低形成 | 近視 | 過剰な皮膚 | 過成長 | 過角化症 | 遠視 | 閉塞性睡眠時無呼吸 | 関節過動 | 食餌摂取障害 in infancy | 骨格骨化遅延 | 高口蓋 | 黒色表皮腫" ] }, { "id": "NANDO:1200673", "label_en": "Polysplenia syndrome", "label_ja": "多脾症候群", "yomigana": "たひしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200673", "notificationNumber": "188", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200542", "label_en": "Neurodegeneration with brain iron accumulation", "label_ja": "脳内鉄沈着神経変性症", "yomigana": "のうないてつちんちゃくしんけいへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200542", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200502", "label_en": "Hereditary periodic paralysis", "label_ja": "遺伝性周期性四肢麻痺", "yomigana": "いでんせいしゅうきせいししまひ", "url": "http://nanbyodata.jp/ontology/NANDO_1200502", "notificationNumber": "115", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200786", "label_en": "C8 deficiency", "label_ja": "C8 欠損症", "yomigana": "しー8けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200786", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201203", "label_en": "Metachromatic leukodystrophy, juvenile form", "label_ja": "若年型異染性白質ジストロフィー", "yomigana": "じゃくねんがたいせんせいはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201203", "notificationNumber": "112", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abdominal distention | Abnormal cerebral white matter morphology | Abnormal glycosphingolipid metabolism | Abnormal social behavior | Abnormality of metabolism/homeostasis | Abnormality of visual evoked potentials | Ataxia | Autosomal recessive inheritance | Babinski sign | Bilateral sensorineural hearing impairment | Bulbar palsy | Cholecystitis | Chorea | Clumsiness | Decreased nerve conduction velocity | Delusion | Developmental regression | Dysarthria | Dystonia | EMG: chronic denervation signs | EMG: neuropathic changes | Emotional lability | Frequent falls | Gait disturbance | Gallbladder dysfunction | Generalized hypotonia | Hallucinations | Hyperreflexia | Hyporeflexia | Hypotonia | Increased CSF protein concentration | Intellectual disability | Intention tremor | Leukodystrophy | Loss of speech | Mental deterioration | Muscle weakness | Optic atrophy | Peripheral demyelination | Progressive gait ataxia | Progressive peripheral neuropathy | Progressive psychomotor deterioration | Reduced visual acuity | Seizure | Short attention span | Spastic tetraplegia | Spasticity | Tetraplegia | Urinary incontinence" ], "symptoms_ja_list": [ "Babinski サイン | グリコスフィンゴリピド 代謝の異常 | ジストニア | ロイコジストロフィー | 不器用 | 両側性感音難聴 | 中心視力減少 | 代謝/ホメオスターシスの異常 | 企図振戦 | 全身性筋緊張低下 | 反射亢進 | 反射低下 | 四肢麻痺 | 大脳白質の異常 | 妄想 | 常染色体潜性遺伝 | 幻覚 | 情動不安定 | 末梢神経脱髄 | 構音障害 | 歩行障害 | 球麻痺 | 異常な社会的行動 | 痙性 | 痙性四肢麻痺 | 発作 | 発語喪失 | 発達退行 | 知的障害 | 知能悪化 | 短い注意期間 | 神経活動電位の振幅減少 | 筋緊張低下 | 筋虚弱 | 筋電図: 慢性変性サイン | 筋電図: 神経症変化 | 胆嚢機能障害 | 胆嚢炎 | 腹部膨満 | 舞踏病 | 視神経萎縮 | 視覚誘発電位の異常 | 進行性末梢神経ニューロパチー | 進行性歩行失調 | 進行性精神運動発達悪化 | 運動失調 | 遺尿 | 頻回の転倒 | 髄液タンパクの増加" ] }, { "id": "NANDO:2200556", "label_en": "Sialidosis", "label_ja": "シアリドーシス", "yomigana": "しありどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200556", "notificationNumber": "117", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201400", "label_en": "GRIN2B-related neurodevelopmental disorder", "label_ja": "GRIN2B関連神経発達異常症", "yomigana": "じーあーるあいえぬ2びーかんれんしんけいはったついじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201400", "notificationNumber": "69", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [ "Absent speech | Atypical behavior | Autosomal dominant inheritance | Axial hypotonia | Bilateral tonic-clonic seizure | Choanal atresia | Chorea | Cryptorchidism | Dyskinesia | Dystonia | EEG abnormality | Epileptic encephalopathy | Epileptic spasm | Feeding difficulties | Focal impaired awareness seizure | Generalized hypotonia | Global developmental delay | Hypothyroidism | Hypotonia | Hypsarrhythmia | Infantile onset | Infantile spasms | Inguinal hernia | Intellectual disability | Microcephaly | Myoclonus | Pes planus | Reduced eye contact | Seizure | Spasticity | Status epilepticus" ], "symptoms_ja_list": [ "てんかん性スパスム | てんかん性脳症 | てんかん重積 | ジスキネジア | ジストニア | ヒプスアリスミア | ミオクローヌス | 乳児スパスム | 体幹の筋緊張低下 | 停留精巣 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性間代性強直性発作 | 小頭 | 常染色体顕性遺伝 | 後鼻孔閉鎖 | 意識または覚醒障害を伴う焦点性発作 | 扁平足 | 甲状腺機能低下症 | 痙性 | 発作 | 発語欠損 | 眼があわない | 知的障害 | 筋緊張低下 | 脳波異常 | 舞踏病 | 行動異常 | 食餌摂取障害 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200787", "label_en": "Tetrahydrobiopterin-responsive hyperphenylalaninemia", "label_ja": "BH4反応性高Phe血症", "yomigana": "びーえいち4はんのうせいこうぴーえいちいーけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200787", "notificationNumber": "240", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200394", "label_en": "Homozygous familial hypercholesterolemia", "label_ja": "家族性高コレステロール血症ホモ接合体", "yomigana": "かぞくせいこうこれすてろーるけっしょうほもせつごうたい", "url": "http://nanbyodata.jp/ontology/NANDO_1200394", "notificationNumber": "79", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal eye physiology | Abnormal internal carotid artery morphology | Abnormal left ventricular function | Abnormal nervous system physiology | Abnormal tendon morphology | Angina pectoris | Aortic atherosclerotic lesion | Arthralgia | Calcification of the aorta | Cerebral artery atherosclerosis | Coronary artery atherosclerosis | Dyspnea | Elevated circulating LDL-C concentration | Hepatic steatosis | Hypercholesterolemia | Hyperlipidemia | Hypertension | Mitral regurgitation | Myocardial infarction | Myocardial steatosis | Optic neuropathy | Peripheral arterial stenosis | Precocious atherosclerosis | Premature arteriosclerosis | Premature coronary artery atherosclerosis | Renal artery stenosis | Renal steatosis | Sudden cardiac death | Supravalvular aortic stenosis | Tendon xanthomatosis | Xanthomatosis" ], "symptoms_ja_list": [ "僧帽弁逆流 | 冠動脈疾患 | 呼吸困難 | 大動脈動脈硬化症 | 大動脈石灰化 | 大脳動脈動脈硬化症 | 左室機能障害 | 弁上性大動脈狭窄 | 心筋梗塞 | 心筋脂肪症 | 早発性冠動脈疾患 | 早発性動脈硬化症 | 末梢動脈疾患 | 狭心症 | 眼生理の異常 | 神経系生理の異常 | 突然心臓死 | 脂肪肝 | 腎動脈狭窄 | 腎脂肪症 | 腱形態異常 | 腱黄色腫症 | 視神経ニューロパチー | 関節痛 | 高βリポタンパク血症 | 高コレステロール血症 | 高脂血症 | 高血圧 | 黄色腫症" ] }, { "id": "NANDO:1200988", "label_en": "Aromatic L-amino acid decarboxylase deficiency", "label_ja": "芳香族L－アミノ酸脱炭酸酵素欠損症", "yomigana": "ほうこうぞくえるあみのさんだつたんさんこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200988", "notificationNumber": "323", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of the face | Apnea | Athetosis | Atypical behavior | Autistic behavior | Autosomal recessive inheritance | Axial hypotonia | Babinski sign | Blepharospasm | Cardiorespiratory arrest | Choreoathetosis | Constipation | Decreased CSF homovanillic acid concentration | Diarrhea | Diminished deep tendon reflex | Diminished movement | Drooling | Dysarthria | Dyskinesia | Dysphagia | Dystonia | EEG abnormality | Emotional lability | Exaggerated startle response | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Gastroesophageal reflux | Global developmental delay | Hyperhidrosis | Hyperreflexia | Hypoglycemia | Hypokinesia | Hypotension | Hypotonia | Increased circulating prolactin concentration | Infantile onset | Intellectual disability | Intermittent hypothermia | Irritability | Lethargy | Limb dystonia | Limb hypertonia | Limb tremor | Miosis | Motor delay | Myoclonus | Nasal congestion | Oculogyric crisis | Poor head control | Ptosis | Seizure | Short stature | Sleep disturbance | Temperature instability | Tongue thrusting | Torticollis | Tremor" ], "symptoms_ja_list": [ "Babinski サイン | アテトーゼ | ジスキネジア | ジストニア | プロラクチン過剰症 | ミオクローヌス | 下痢 | 低血圧 | 低血糖 | 低身長 | 体幹の筋緊張低下 | 体温不安定 | 便秘 | 全般性発達遅滞 | 反射亢進 | 嚥下障害 | 四肢ジストニア | 四肢振戦 | 四肢筋緊張亢進 | 多汗 | 常染色体潜性遺伝 | 心肺停止 | 情動不安定 | 成長障害 (成長不全) | 振戦 | 斜頚 | 構音障害 | 注視クリーゼ | 流涎 | 無呼吸 | 無気力 | 発作 | 眼瞼スパスム | 眼瞼下垂 | 睡眠障害 | 知的障害 | 筋緊張低下 | 縮瞳 | 胃食道逆流 | 脳波異常 | 腱反射減少 | 自閉性行動 | 舌突出 | 舞踏病アテトーゼ | 行動異常 | 被刺激性 | 誇張された驚愕反応 | 運動減少 | 運動発達遅滞 | 間歇的低体温 | 頸定不全 | 顔の異常 | 食餌摂取障害 | 食餌摂取障害 in infancy | 髄液ホモバニリン酸(HVA)減少 | 鼻閉" ] }, { "id": "NANDO:2201179", "label_en": "Mucopolysaccharidosis type IV B", "label_ja": "B型ムコ多糖症IV型", "yomigana": "びーがたむこたとうしょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201179", "notificationNumber": "132", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Aortic valve stenosis | Ataxia | Autosomal recessive inheritance | Bilateral talipes equinovarus | Carious teeth | Cervical myelopathy | Cervical subluxation | Chondroitin sulfate excretion in urine | Coarse facial features | Constricted iliac wing | Corneal opacity | Coxa valga | Decreased beta-galactosidase activity | Disproportionate short-trunk short stature | Dysostosis multiplex | Epiphyseal deformities of tubular bones | Flaring of rib cage | Genu valgum | Grayish enamel | Hearing impairment | Hepatomegaly | Hip dysplasia | Hyperlordosis | Hypoplasia of the capital femoral epiphysis | Hypoplasia of the odontoid process | Inguinal hernia | Intellectual disability | Intimal thickening in the coronary arteries | Joint hypermobility | Joint stiffness | Juvenile onset | Keratan sulfate excretion in urine | Kyphosis | Mandibular prognathia | Metaphyseal widening | Mitral regurgitation | Opacification of the corneal stroma | Osteoporosis | Ovoid vertebral bodies | Platyspondyly | Pointed proximal second through fifth metacarpals | Prominent sternum | Recurrent upper respiratory tract infections | Restrictive ventilatory defect | Scoliosis | Ulnar deviation of the wrist | Wide mouth | Widely spaced teeth" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | 下顎突出 | 不均衡性短躯低身長 | 両側性内反尖足 | 側弯 | 僧帽弁逆流 | 冠状動脈の内膜肥厚 | 前弯 | 卵形椎体骨 | 反復性上気道感染症 | 外反股 | 外反膝 | 多発性異骨症 | 大動脈弁狭窄 | 大腿骨骨頭骨端低形成 | 尖った第2-第4中手骨近位 | 尿中硫酸ケラタン排泄 | 尿中硫酸コンドロイチン排泄 | 常染色体潜性遺伝 | 幅広い口 | 後弯 | 扁平脊椎 | 手関節の尺側偏位 | 拘束性肺疾患 | 歯状突起低形成 | 歯間隔離 | 灰色のエナメル質 | 目立つ胸骨 | 知的障害 | 管状骨骨端の変形 | 粗な顔貌 | 肋骨胸郭のフレア | 肝腫 | 股関節異形成 | 腸骨翼狭窄 | 角膜混濁 | 角膜間質混濁形成 | 運動失調 | 関節拘縮 | 関節過動 | 難聴 | 頚椎亜脱臼 | 頚髄ミエロパチー | 骨幹端拡大 | 骨粗鬆症 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:1200674", "label_en": "Asplenia syndrome", "label_ja": "無脾症候群", "yomigana": "むひしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200674", "notificationNumber": "189", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200824", "label_en": "Joubert syndrome related disorders", "label_ja": "ジュベール症候群関連疾患", "yomigana": "じゅべーるしょうこうぐんかんれんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200824", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100218", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200079", "label_en": "Malignant thymoma", "label_ja": "悪性胸腺腫", "yomigana": "あくせいきょうせんしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200079", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abnormal vena cava morphology | Chest pain | Cough | Diaphragmatic paralysis | Dyspnea | Edema | Fatigable weakness | Fatigue | Hyperhidrosis | Mediastinal lymphadenopathy | Neoplasm of the thymus | Palpebral edema | Weight loss" ], "symptoms_ja_list": [ "体重喪失 | 共通 | 呼吸困難 | 外層 | 多汗 | 大静脈の異常 | 横隔膜麻痺 | 浮腫 | 疲労 | 疲労性虚弱 | 眼瞼浮腫 | 縦隔リンパ節腫大 | 胸腺新生物" ] }, { "id": "NANDO:1200086", "label_en": "Farber disease", "label_ja": "ファーバー病", "yomigana": "ふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200086", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal conjunctiva morphology | Abnormal epiglottis morphology | Abnormal facial shape | Abnormal foot morphology | Abnormal skeletal morphology | Abnormal sternum morphology | Abnormality of the elbow | Abnormality of the hand | Abnormality of the knee | Abnormality of the nervous system | Abnormality of the respiratory system | Abnormality of the wrist | Anemia | Arthralgia | Arthritis | Ascites | Atelectasis | Atypical behavior | Autosomal recessive inheritance | Brain atrophy | CNS foam cells | Cherry red spot of the macula | Childhood onset | Chronic diarrhea | Corneal opacity | Developmental regression | Diffuse reticular or finely nodular infiltrations | Dysphonia | EMG: chronic denervation signs | Elevated circulating hepatic transaminase concentration | Failure to thrive | Feeding difficulties | Flexion contracture | Floppy infant | Global developmental delay | Hepatic failure | Hepatic fibrosis | Hepatomegaly | Hepatosplenomegaly | Hoarse cry | Hoarse voice | Hydrops fetalis | Hyperextensibility of the finger joints | Infantile spasms | Intellectual disability | Intrahepatic cholestasis with episodic jaundice | Irritability | Joint swelling | Laryngeal stridor | Limitation of knee mobility | Loss of voice | Lymphadenopathy | Macular degeneration | Motor delay | Mutism | Myoclonus | Nystagmus | Opacification of the corneal stroma | Osteolysis involving bones of the feet | Osteolytic defects of the phalanges of the hand | Osteoporosis | Paraparesis | Periarticular subcutaneous nodules | Progressive | Recurrent fever | Recurrent upper respiratory tract infections | Respiratory distress | Respiratory insufficiency | Seizure | Short finger | Short stature | Short toe | Skeletal muscle atrophy | Spasticity | Splenomegaly | Subcutaneous nodule | Thrombocytopenia | Ulnar deviation of the wrist | Weak cry" ], "symptoms_ja_list": [ "びまん性網状または微細結節性浸潤 | ミオクローヌス | リンパ節腫大 | 不全対麻痺 | 乳児スパスム | 乳児筋性筋緊張低下 | 低身長 | 全般性発達遅滞 | 内臓器官および中枢神経の泡沫細胞 | 動脈周囲皮下結節 | 反復性上気道感染症 | 呼吸不全 | 呼吸器の異常 | 呼吸窮迫 | 喉頭喘鳴 | 喉頭蓋の異常 | 嗄声 | 声喪失 | 屈曲拘縮 | 常染色体潜性遺伝 | 弱い泣き声 | 慢性下痢 | 成長障害 (成長不全) | 手の異常 | 手関節の尺側偏位 | 手関節の異常 | 指関節過伸展 | 指骨の骨融解病変 | 無気肺 | 無言症 | 異常な顔の形 | 痙性 | 発作 | 発熱エピソード | 発達退行 | 発音障害 | 皮下結節 | 眼振 | 知的障害 | 短い指 | 短い趾 | 神経系の異常 | 筋萎縮 | 筋電図: 慢性変性サイン | 粗い泣き声 | 結膜の異常 | 肘異常 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝線維症 | 肝脾腫 | 肝腫 | 胎児水腫 | 胸骨の異常 | 脳萎縮 | 脾腫 | 腹水 | 膝の異常 | 膝運動制限 | 血小板減少 | 行動異常 | 被刺激性 | 角膜混濁 | 角膜間質混濁形成 | 貧血 | 足の異常 | 運動発達遅滞 | 関節炎 | 関節痛 | 関節腫脹 | 食餌摂取障害 | 骨格形態の異常 | 骨粗鬆症 | 骨融解 (足の骨) | 高度/補酵素活性異常 | 黄斑のチェリーレッド斑 | 黄斑変性 | 黄疸エピソードを伴う肝内胆汁うっ滞" ] }, { "id": "NANDO:2200861", "label_en": "Merosin-deficient congenital muscular dystrophy", "label_ja": "メロシン欠損型先天性筋ジストロフィー", "yomigana": "めろしんけっそんがたせんてんせいきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200861", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [ "Abnormal brainstem MRI signal intensity | Abnormal cortical gyration | Abnormality of metabolism/homeostasis | Abnormality of the temporomandibular joint | Abnormality of visual evoked potentials | Areflexia | Arrhythmia | Aspiration | Astrocytosis | Atelectasis | Autosomal recessive inheritance | Cardiomyopathy | Cerebral edema | Cognitive impairment | Congenital onset | Decreased body weight | Diminished deep tendon reflex | Dysphagia | EMG abnormality | Elevated circulating creatine kinase activity | Facial palsy | Feeding difficulties in infancy | Flexion contracture | Focal-onset seizure | Gastroesophageal reflux | Generalized non-motor (absence) seizure | Hyperlordosis | Hypointensity of cerebral white matter on MRI | Hypokinesia | Hypotonia | Hypoventilation | Impaired mastication | Inability to walk | Increased connective tissue | Increased endomysial connective tissue | Intellectual disability | Intercostal muscle weakness | Kyphoscoliosis | Lissencephaly | Macroglossia | Motor delay | Muscle fiber atrophy | Muscle weakness | Muscular dystrophy | Myopathic facies | Myositis | Neonatal hypotonia | Open mouth | Ophthalmoplegia | Pachygyria | Pontocerebellar atrophy | Protruding tongue | Pulmonary arterial hypertension | Recurrent lower respiratory tract infections | Reduced left ventricular ejection fraction | Respiratory failure | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Scoliosis | Seizure | Sensorimotor neuropathy | Weak cry" ], "symptoms_ja_list": [ "MRIの大脳白質低輝度 | ミオパチー顔貌 | 不整脈 | 代謝/ホメオスターシスの異常 | 低換気 | 体重減少 | 側弯 | 側頭下顎関節の異常 | 前弯 | 反復性下気道感染症 | 呼吸不全 | 咀嚼こんな | 嚥下障害 | 大脳浮腫 | 屈曲拘縮 | 巨舌 | 常染色体潜性遺伝 | 弱い泣き声 | 後側弯 | 心筋症 | 感覚運動ニューロパチー | 新生児筋緊張低下 | 星状細胞増加; | 橋小脳萎縮 | 欠神発作 | 歩行不能 | 滑脳症 | 無反射 | 無気肺 | 焦点性発作 | 異常な皮質脳回形成 | 異常な脳幹 MRI シグナル強度 | 発作 | 眼筋麻痺 | 知的障害 | 筋ジストロフィー | 筋内膜結合織増加 | 筋炎 | 筋緊張低下 | 筋線維萎縮 | 筋虚弱 | 筋虚弱による呼吸不全 | 筋電図異常 | 結合織増加 | 肋間筋虚弱 | 肺高血圧 | 胃食道逆流 | 脳回肥厚 | 腱反射減少 | 舌挺出 | 血清 creatine phosphokinase上昇 | 視覚誘発電位の異常 | 認知障害 | 誤嚥 | 運動減少 | 運動発達遅滞 | 開口 | 顔面麻痺 | 食餌摂取障害 in infancy | 駆出分画減少" ] }, { "id": "NANDO:2200071", "label_en": "Mixed germ cell tumour", "label_ja": "混合性胚細胞腫瘍", "yomigana": "こんごうせいはいさいぼうしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200071", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200170", "label_en": "Medullary cystic kidney", "label_ja": "髄質嚢胞腎", "yomigana": "ずいしつのうほうじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200170", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Abnormal retinal pigmentation | Anemia | Renal insufficiency" ], "symptoms_ja_list": [ "網膜色素異常 | 腎不全 | 貧血" ] }, { "id": "NANDO:2201415", "label_en": "", "label_ja": "染色体又は遺伝子異常を伴い特徴的な形態的異常の組み合わせを呈する症候群（厚生労働省健康局長の定めるものに限る。）", "yomigana": "せんしょくたいまたはいでんしいじょうをともないとくちょうてきなけいたいてきいじょうのくみあわせをていするしょうこうぐん（こうせいろうどうしょうけんこうきょくちょうのさだめるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2201415", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200491", "label_en": "Methylmalonic acidemia", "label_ja": "メチルマロン酸血症", "yomigana": "めちるまろんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200491", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200063", "label_en": "Alveolar soft part sarcoma", "label_ja": "胞巣状軟部肉腫", "yomigana": "ほうそうじょうなんぶにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200063", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Alveolar soft part sarcoma | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "体細胞モザイク | 胞巣状軟部横紋筋肉腫" ] }, { "id": "NANDO:2201296", "label_en": "Hypomyelination and congenital cataract", "label_ja": "先天性白内障を伴う髄鞘形成不全症", "yomigana": "せんてんせいはくないしょうをともなうずいしょうけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201296", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Abnormal cerebellum morphology | Abnormal pyramidal sign | Autosomal recessive inheritance | Axial hypotonia | Babinski sign | CNS hypomyelination | Cerebral hypomyelination | Cerebral white matter atrophy | Congenital onset | Decreased motor nerve conduction velocity | Delayed brainstem auditory evoked response conduction time | Delayed somatosensory central conduction time | Developmental cataract | Dysarthria | Global developmental delay | Hyperreflexia | Intellectual disability | Intention tremor | Leukodystrophy | Loss of ambulation | Lower limb amyotrophy | Lower limb muscle weakness | Moderate intellectual disability | Motor delay | Onion bulb formation | Polyneuropathy | Scoliosis | Seizure" ], "symptoms_ja_list": [ "Babinski サイン | オニオンバルブ形成 | ポリニューロパチー | ロイコジストロフィー | 下肢筋萎縮 | 下肢筋虚弱 | 中枢性身体感覚誘発電位の異常 | 中枢神経髄鞘形成低下 | 企図振戦 | 体幹の筋緊張低下 | 側弯 | 先天性白内障 | 全般性発達遅滞 | 反射亢進 | 大脳白質萎縮 | 大脳髄鞘低形成 | 小脳の異常 | 常染色体潜性遺伝 | 構音障害 | 発作 | 知的障害 | 知的障害", "中道動脈瘤 | 進行性歩行不安定 | 運動発達遅滞 | 運動神経活動電位の振幅減少 | 遷延性脳幹聴性誘発反応 | 錐体路運動機能の異常" ] }, { "id": "NANDO:1200301", "label_en": "Borderline between aplastic anemia and MDS", "label_ja": "MDSとの境界型", "yomigana": "えむでぃーえすとのきょうかいがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200301", "notificationNumber": "60", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Aplastic anemia | Autosomal dominant inheritance | Bone marrow hypocellularity | Myelodysplasia | Pancytopenia | Sensorineural hearing impairment" ], "symptoms_ja_list": [ "再生不良性貧血 | 常染色体顕性遺伝 | 感音難聴 | 汎血球減少症 | 骨髄異形成 | 骨髄細胞数増多" ] }, { "id": "NANDO:2200382", "label_en": "Hypogonadotropic hypogonadism", "label_ja": "低ゴナドトロピン性性腺機能低下症", "yomigana": "ていごなどとろぴんせいせいせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200382", "notificationNumber": "72", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100138", "symptoms_en_list": [ "Abnormality of body height | Abnormality of the dentition | Abnormality of the voice | Absence of pubertal development | Absence of secondary sex characteristics | Anxiety | Azoospermia | Breast hypoplasia | Camptodactyly | Cleft palate | Congenital sensorineural hearing impairment | Cryptorchidism | Decreased testicular size | Delayed puberty | Delayed skeletal maturation | Depressed nasal bridge | Depression | Eunuchoid habitus | Female hypogonadism | Generalized joint hypermobility | Gynecomastia | Hypertelorism | Hypogonadotropic hypogonadism | Hypoplasia of the ovary | Hypoplasia of the uterus | Impotence | Male hypogonadism | Micropenis | Non-obstructive azoospermia | Osteopenia | Osteoporosis | Phenotypic abnormality | Primary amenorrhea | Secondary amenorrhea | Sparse body hair | Wide intermamillary distance" ], "symptoms_ja_list": [ "うつ | インポテンス | 不安 | 両眼隔離 | 乳房低形成 | 二次性徴欠損 | 二次性無月経 | 低ゴナドトロピン性性腺機能低下症 | 停留精巣 | 先天性感音難聴 | 全身性関節弛緩 | 卵巣低形成 | 原発性無月経 | 口蓋裂 | 声の異常 | 女性型乳房 | 女性性腺機能低下症 hypogonadism | 子宮低形成 | 小陰茎 | 屈指 | 幅広い乳頭間距離 | 思春期発達欠損 | 思春期遅発 | 歯の異常 | 無精子症 | 男性性腺機能低下症 | 疎な体毛 | 精巣サイズ減少 | 落ちくぼんだ鼻梁 | 身長の異常 | 非閉塞性無精子症 | 類宦官体型 | 骨格骨化遅延 | 骨減少症 | 骨粗鬆症" ] }, { "id": "NANDO:1200952", "label_en": "Leukoencephalopathy, progressive, with ovarian failure", "label_ja": "卵巣機能障害を伴う進行性白質脳症", "yomigana": "らんそうきのうしょうがいをともなうしんこうせいはくしつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200952", "notificationNumber": "308", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Apraxia | Ataxia | Autosomal recessive inheritance | Babinski sign | Cerebellar atrophy | Childhood onset | Cytochrome C oxidase-negative muscle fibers | Dementia | Depression | Developmental regression | Dysarthria | Dystonia | Hand tremor | Hyperreflexia | Juvenile onset | Lateral ventricle dilatation | Leukoencephalopathy | Loss of speech | Middle age onset | Muscle weakness | Neurodegeneration | Nystagmus | Periventricular leukomalacia | Premature ovarian insufficiency | Progressive | Progressive leukoencephalopathy | Psychosis | Spasticity | Young adult onset" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | うつ | ジストニア | 側脳室拡大 | 反射亢進 | 失行症 | 小脳萎縮 | 常染色体潜性遺伝 | 手振戦 | 早発性卵巣不全 | 構音障害 | 痙性 | 発語喪失 | 発達退行 | 白質脳症 | 眼振 | 神経変性 | 筋組織の cytochrome C oxidase 活性低下 | 筋虚弱 | 精神病 | 脳室周囲白質軟化症 | 進行性白質脳症 | 運動失調" ] }, { "id": "NANDO:2201128", "label_en": "Neonatal-onset carnitine palmitoyltransferase I deficiency", "label_ja": "新生児期発症型カルニチンパルミトイルトランスフェラーゼI欠損症", "yomigana": "しんせいじきはっしょうがたかるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201128", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200474", "label_en": "Congenital atypical hemolytic uremic syndrome", "label_ja": "先天性非典型溶血性尿毒症症候群", "yomigana": "せんてんせいひてんけいようけつせいにょうどくしょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200474", "notificationNumber": "109", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Abnormality of blood and blood-forming tissues | Abnormality of complement system | Abnormality of metabolism/homeostasis | Acute kidney injury | Decreased circulating complement factor B concentration | Decreased circulating complement factor I concentration | Hematuria | Microangiopathic hemolytic anemia | Proteinuria | Reduced circulating complement concentration | Thrombocytopenia" ], "symptoms_ja_list": [ "代謝/ホメオスターシスの異常 | 微小血管症性溶血性貧血 | 急性腎外傷 | 蛋白尿 | 血小板減少 | 血尿 | 血液および血液痙性組織の異常 | 血清補体 factor B減少 | 血清補体 factor I 減少 | 補体欠乏症 | 補体系の異常" ] }, { "id": "NANDO:3000001", "label_en": "Muscle weakness group", "label_ja": "筋力低下群", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_3000001", "notificationNumber": "", "obsolete": 1, "category": "other", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200273", "label_en": "Pulmonary venous obstruction", "label_ja": "肺静脈狭窄症", "yomigana": "はいじょうみゃくきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200273", "notificationNumber": "79", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100089", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200490", "label_en": "Limb-girdle muscular dystrophy", "label_ja": "肢帯型筋ジストロフィー", "yomigana": "したいがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200490", "notificationNumber": "113", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200420", "label_en": "Acute interstitial pneumonia", "label_ja": "急性間質性肺炎", "yomigana": "きゅうせいかんしつせいはいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200420", "notificationNumber": "85", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Arthralgia | Atelectasis | Bronchiectasis | Chest pain | Cyanosis | Dyspnea | Elevated circulating C-reactive protein concentration | Elevated circulating creatinine concentration | Elevated erythrocyte sedimentation rate | Fatigue | Fever | Hypertension | Hypoxemia | Lymphadenopathy | Myalgia | Pericardial effusion | Peripheral edema | Pleural effusion | Pulmonary fibrosis | Pulmonary infiltrates | Respiratory failure | Tachypnea" ], "symptoms_ja_list": [ "CRP 上昇 | チアノーゼ | リンパ節腫大 | 低酸素血症への感受性の減少 | 共通 | 呼吸不全 | 呼吸困難 | 多呼吸 | 心外膜滲出液 | 末梢性浮腫 | 気管支拡張 | 無気肺 | 疲労 | 発熱 | 筋痛 | 肺浸潤 | 肺線維症 | 胸膜滲出液 | 血清クレアチン症状 | 赤沈値上昇 | 関節痛 | 高血圧" ] }, { "id": "NANDO:2200972", "label_en": "CHARGE syndrome", "label_ja": "チャージ症候群", "yomigana": "ちゃーじしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200972", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal cranial nerve morphology | Abnormal morphology of female internal genitalia | Abnormal pinna morphology | Abnormal rib morphology | Abnormal soft palate morphology | Abnormal tibia morphology | Abnormality of bone mineral density | Abnormality of immune system physiology | Abnormality of the adrenal glands | Abnormality of the eye | Abnormality of the inner ear | Abnormality of vision | Anophthalmia | Anosmia | Anterior hypopituitarism | Aortic arch aneurysm | Aplasia/Hypoplasia of the cerebellum | Aplasia/Hypoplasia of the earlobes | Aqueductal stenosis | Attention deficit hyperactivity disorder | Autism | Bifid femur | Bifid scrotum | Brachydactyly | Choanal atresia | Chorioretinal coloboma | Cleft palate | Cleft upper lip | Clinodactyly of the 5th finger | Coloboma | Compulsive behaviors | Cranial nerve paralysis | Cryptorchidism | Dandy-Walker malformation | Delayed eruption of teeth | Delayed puberty | Depressed nasal bridge | Dimple chin | Dysphagia | Epicanthus | Eyelid coloboma | Facial asymmetry | Facial palsy | Feeding difficulties in infancy | Gastroesophageal reflux | Global developmental delay | Hearing impairment | Hemivertebrae | Highly arched eyebrow | Holoprosencephaly | Horseshoe kidney | Hydronephrosis | Hypertelorism | Hypogonadotropic hypogonadism | Hypoplasia of the semicircular canal | Hypoplasia of the zygomatic bone | Hypotonia | Intellectual disability | Interrupted aortic arch | Intrauterine growth retardation | Iris coloboma | Labial hypoplasia | Lacrimation abnormality | Laryngomalacia | Microcephaly | Micropenis | Microphthalmia | Microtia | Narrow face | Narrow mouth | Nystagmus | Omphalocele | Optic atrophy | Overfolded helix | Patent ductus arteriosus | Polydactyly | Polyhydramnios | Posteriorly rotated ears | Postnatal growth retardation | Preauricular skin tag | Ptosis | Respiratory insufficiency | Scoliosis | Short stature | Strabismus | Talipes | Tetralogy of Fallot | Tracheoesophageal fistula | Umbilical hernia | Vesicoureteral reflux | Webbed neck" ], "symptoms_ja_list": [ "Dandy-Walker 奇形 | Fallot 四徴症 | コロボーマ | 三半規管低形成 | 上口唇裂 | 下垂体前葉機能低下症 | 下顎小孔 | 両眼隔離 | 二分した大腿骨 | 二分陰嚢 | 低ゴナドトロピン性性腺機能低下症 | 低身長 | 停留精巣 | 側弯 | 免疫系生理の異常 | 全前脳胞症 | 全般性発達遅滞 | 内眼角贅皮 | 内耳の異常 | 副腎異常 | 動脈管開存症 | 半脊椎 | 口蓋裂 | 呼吸不全 | 喉頭軟化症 | 嚥下障害 | 多指趾症 | 大動脈弁の異常 | 大動脈弓拡張 | 大動脈弓離断 | 女性内性器異常 | 子宮内成長遅滞 | 小眼球 | 小耳 | 小脳無形成/低形成 | 小陰茎 | 小頭 | 尖足 | 強迫性行動 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心中隔 | 思春期遅発 | 斜視 | 歯萠出遅延 | 気管食道瘻 | 水腎症 | 水道狭窄 | 注意力欠陥多動性疾患 | 流涙異常 | 無嗅覚 | 無眼球 | 狭い口 | 狭い顔 | 生後の成長遅滞 | 眼の異常 | 眼振 | 眼瞼下垂 | 眼瞼裂 | 知的障害 | 短指症候群 | 第5指弯指 | 筋緊張低下 | 羊水過多 | 翼状頚 | 耳介の異常 | 耳介前皮膚肉柱 | 耳介後方回転 | 耳朶無形成/低形成 | 耳輪の過剰な巻き込み | 肋骨の異常 | 胃食道逆流 | 脈絡膜網膜コロボーマ | 脛骨の異常 | 脳神経の異常 | 脳神経麻痺 | 膀胱尿管逆流 | 臍ヘルニア | 臍帯ヘルニア | 自閉症 | 落ちくぼんだ鼻梁 | 視神経萎縮 | 視覚の異常 | 軟口蓋の異常 | 陰唇低形成 | 難聴 | 頬骨未発達 | 顔面非対称 | 顔面麻痺 | 食餌摂取障害 in infancy | 馬蹄腎 | 骨ミネラル濃度の異常 | 高位の弓形眉毛" ] }, { "id": "NANDO:1200375", "label_en": "Central diabetes insipidus", "label_ja": "中枢性尿崩症", "yomigana": "ちゅうすうせいにょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200375", "notificationNumber": "72", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Anorexia | Anxiety | Autosomal dominant inheritance | Central diabetes insipidus | Dehydration | Depression | Diabetes insipidus | Diarrhea | Excessive daytime somnolence | Failure to thrive | Fever | Gliosis | Growth delay | Headache | Hypertelorism | Hyponatremia | Irritability | Lethargy | Long philtrum | Nausea and vomiting | Nocturia | Osteopenia | Polydipsia | Seizure | Short nose | Vomiting | Weight loss | Wide nose" ], "symptoms_ja_list": [ "うつ | 下痢 | 不安 | 両眼隔離 | 中枢性尿崩症 | 低ナトリウム血症 | 体重喪失 | 吐気と 嘔吐 | 嗜眠 | 嘔吐 | 多飲 | 夜尿 | 尿崩症 | 常染色体顕性遺伝 | 幅広い鼻 | 成長遅滞 | 成長障害 (成長不全) | 無気力 | 発作 | 発熱 | 短い鼻 | 神経膠症 | 脱水 | 被刺激性 | 長い人中 | 頭痛 | 食思不振 | 骨減少症" ] }, { "id": "NANDO:2200128", "label_en": "Lupus nephritis", "label_ja": "ループス腎炎", "yomigana": "るーぷすじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200128", "notificationNumber": "45", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200395", "label_en": "Gastrinoma", "label_ja": "ガストリノーマ", "yomigana": "がすとりのーま", "url": "http://nanbyodata.jp/ontology/NANDO_2200395", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100141", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100092", "label_en": "Subvalvular pulmonary stenosis", "label_ja": "肺動脈弁下狭窄症", "yomigana": "はいどうみゃくべんかきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100092", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201530", "label_en": "Baller-Gerold symdrome", "label_ja": "バレー・ジェロルド症候群", "yomigana": "ばれー・じぇろるどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201530", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal carpal morphology | Abnormal heart morphology | Abnormal localization of kidney | Abnormal metacarpal morphology | Abnormal vertebral morphology | Abnormality of the kidney | Abnormality of the ureter | Absent radius | Absent thumb | Agenesis of corpus callosum | Anal atresia | Anomalous splenoportal venous system | Anteriorly placed anus | Aphalangy of the hands | Aplasia of metacarpal bones | Aplasia/Hypoplasia of the patella | Aplasia/Hypoplasia of the radius | Aplasia/Hypoplasia of the thumb | Astigmatism | Autosomal recessive inheritance | Bicoronal synostosis | Bifid uvula | Bowing of the long bones | Brachycephaly | Brachyturricephaly | Broad forehead | Carpal bone aplasia | Carpal synostosis | Chiari malformation | Choanal stenosis | Cleft palate | Concave nasal ridge | Conductive hearing impairment | Congenital onset | Coronal craniosynostosis | Craniosynostosis | Dermal atrophy | Downslanted palpebral fissures | Epicanthus | Erythema | Failure to thrive in infancy | Feeding difficulties | Finger aplasia | Flat forehead | Forearm undergrowth | Frontal bossing | Growth delay | High myopia | High palate | Hydrocephalus | Hydronephrosis | Hypertelorism | Hypoplasia of the radius | Hypoplasia of the ulna | Hypotelorism | Intellectual disability | Intrauterine growth retardation | Lambdoidal craniosynostosis | Large fontanelles | Limited elbow movement | Limited shoulder movement | Long upper lip | Low-set ears | Lymphoma | Malabsorption | Micrognathia | Midface capillary hemangioma | Mixed hearing impairment | Motor delay | Myopia | Narrow face | Narrow mouth | Narrow nasal bridge | Nystagmus | Obstructive sleep apnea | Oligodactyly | Optic atrophy | Optic nerve hypoplasia | Osteosarcoma | Oxycephaly | Patellar aplasia | Patellar hypoplasia | Perineal fistula | Poikiloderma | Polymicrogyria | Posteriorly rotated ears | Prominent forehead | Prominent nasal bridge | Proptosis | Radial deviation of the hand | Rectovaginal fistula | Rib fusion | Sagittal craniosynostosis | Scoliosis | Seizure | Severe intrauterine growth retardation | Severe short stature | Short humerus | Short nose | Short stature | Spina bifida occulta | Strabismus | Thin vermilion border | Turricephaly | Ulnar bowing | Underdeveloped nasal alae | Urogenital fistula | Vesicoureteral reflux | Wide anterior fontanel" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | リンパ腫 | 両冠状縫合早期癒合 | 両眼接近 | 両眼隔離 | 中手骨形態異常 | 中手骨無形成 | 乏指趾症 | 乱視 | 乳児期の成長障害 (成長不全) | 二分した口蓋垂 | 人字縫合早期癒合 | 会陰瘻 | 伝音難聴 | 低身長 | 側弯 | 内眼角贅皮 | 冠状縫合早期癒合 | 前方位肛門 | 前腕成長不良 | 前頭突出", "額突出 | 口蓋裂 | 吸収障害 | 塔状頭 | 多小脳回 | 多形皮膚萎縮症 (ポイキロデルマ) | 大きな泉門 | 子宮内成長遅滞 | 小顎 | 尺骨低形成 | 尺骨湾曲 | 尿管異常 | 常染色体潜性遺伝 | 幅広い大泉門 | 幅広い額 | 平坦な額 | 後鼻孔狭窄 | 循環器系の形態異常 | 心中隔 | 心形態の異常 | 成長遅滞 | 手の橈側偏位 | 手根骨の異常 | 手根骨無形成 | 手根骨癒合 | 指無形成 | 斜視 | 橈骨低形成 | 橈骨欠損 | 橈骨無形成/低形成 | 母指欠損 | 母指無形成/低形成 | 水腎症 | 水頭症 | 泌尿生殖器瘻 | 混合性難聴 | 潜在性二分脊椎 | 無指骨(手) | 狭い口 | 狭い顔 | 狭い鼻梁 | 発作 | 皮膚萎縮 | 目立つ額 | 目立つ鼻梁 | 直腸膣瘻 | 眼振 | 眼球突出 | 眼瞼裂斜下 | 矢状縫合早期癒合 | 知的障害 | 短い上腕骨 | 短い鼻 | 短塔状頭 | 短頭 | 窪んだ鼻梁 | 紅斑 | 耳介低位 | 耳介後方回転 | 肋骨癒合 | 肘運動制限 | 肩運動制限 | 脊椎の異常 | 脳梁無発生 of | 脾門脈静脈系奇形 | 腎位置異常 | 腎異常 | 膀胱尿管逆流 | 膝蓋骨低形成 | 膝蓋骨無形成/低形成 | 膝蓋骨無形成無形成 | 薄い唇紅部縁 | 視神経低形成 | 視神経萎縮 | 近視 | 運動発達遅滞 | 重度の低身長 | 重度の子宮内成長遅滞 | 重度近視 | 鎖肛 | 長い上口唇 | 長管骨湾曲 | 閉塞性睡眠時無呼吸 | 頭蓋合骨症 | 顔面中部毛細血管腫 | 食餌摂取障害 | 骨肉腫 | 高口蓋 | 鼻翼未発達" ] }, { "id": "NANDO:2201315", "label_en": "Crouzon disease (metopic synostosis)", "label_ja": "クルーゾン病（前頭縫合）", "yomigana": "くるーぞんびょう（ぜんとうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201315", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100114", "label_en": "Growth hormone insensitivity", "label_ja": "成長ホルモン不応性症候群", "yomigana": "せいちょうほるもんふおうせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100114", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200206", "label_en": "HTLV-1-associated myelopathy", "label_ja": "HTLV-1関連脊髄症", "yomigana": "えいちてぃーえるぶい1かんれんせきずいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200206", "notificationNumber": "26", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal pyramidal sign | Myelopathy | Spastic paraparesis" ], "symptoms_ja_list": [ "ミエロパチー | 痙性対不全麻痺 | 錐体路運動機能の異常" ] }, { "id": "NANDO:2200840", "label_en": "Fragile X syndrome", "label_ja": "脆弱Ｘ症候群", "yomigana": "ぜいじゃくえっくすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200840", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100224", "symptoms_en_list": [ "Abnormal head movements | Abnormal speech pattern | Anxiety | Ascending tubular aorta aneurysm | Attention deficit hyperactivity disorder | Autism | Cerebral cortical atrophy | Childhood onset | Chronic otitis media | Coarse facial features | Congenital macroorchidism | Delayed gross motor development | Delayed speech and language development | Folate-dependent fragile site at Xq28 | Frontal bossing | Gastroesophageal reflux | Hyperactivity | Hypotonia | Irritability | Joint hypermobility | Large forehead | Long face | Macrocephaly | Macroorchidism | Macroorchidism", "postpubertal | Macrotia | Mandibular prognathia | Metacarpophalangeal joint hyperextensibility | Mitral valve prolapse | Moderate intellectual disability | Narrow face | Otitis media | Pectus excavatum | Periventricular heterotopia | Pes planus | Protruding ear | Recurrent hand flapping | Reduced eye contact | Scoliosis | Seizure | Self-biting | Self-injurious behavior | Sinusitis | Sleep disturbance | Strabismus | Typified by incomplete penetrance | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | 上行大動脈拡張 | 下顎突出 | 不安 | 中手骨指骨(MP)関節過伸展 | 中耳炎 | 側弯 | 僧帽弁逸脱 | 先天性巨大精巣 | 前頭突出", "額突出 | 副鼻腔炎 | 反復性の手 | 多動 | 大きな額 | 大耳 | 大脳皮質萎縮 | 大頭 | 巨大精巣 | 巨大精巣", "思春期後 | 慢性中耳炎 | 扁平足 | 斜視 | 注意力欠陥多動性疾患 | 漏斗胸 | 狭い顔 | 異常な頭部運動 | 発作 | 発語および言語発達遅延 | 眼があわない | 睡眠障害 | 知的障害", "中道動脈瘤 | 神経学的発語障害 | 筋緊張低下 | 粗な顔貌 | 粗大運動発達遅延 | 耳介聳立 | 胃食道逆流 | 脳室周囲異所性灰白質 | 自傷行動 | 自咬症 | 自閉症 | 葉酸欠乏性脆弱部位 (Xq28) | 被刺激性 | 長い顔 | 関節過動" ] }, { "id": "NANDO:1100012", "label_en": "Hearing and balance disorder", "label_ja": "聴覚・平衡機能系疾患", "yomigana": "ちょうかく・へいこうきのうけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100012", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201518", "label_en": "Congenital esophageal atresia Gross type A", "label_ja": "先天性食道閉鎖症 Gross A型", "yomigana": "せんてんせいしょくどうへいさしょう ぐろすえーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201518", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100308", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201163", "label_en": "Cockayne syndrome type 1", "label_ja": "コケイン症候群I型", "yomigana": "こけいんしょうこうぐん1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201163", "notificationNumber": "192", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal auditory evoked potentials | Abnormal facial shape | Abnormal peripheral myelination | Abnormal pinna morphology | Abnormal skin pigmentation | Abnormality of peripheral nerve conduction | Abnormality of temperature regulation | Abnormality of the dentition | Abnormality of visual evoked potentials | Absent brainstem auditory responses | Anemia | Anhidrosis | Anodontia | Anophthalmia | Arrhythmia | Ataxia | Atypical scarring of skin | Autosomal recessive inheritance | Basal ganglia calcification | Carious teeth | Cataract | Cerebellar atrophy | Cerebral atrophy | Conjunctivitis | Cryptorchidism | Cutaneous photosensitivity | Decreased lacrimation | Decreased nerve conduction velocity | Deeply set eye | Delayed eruption of primary teeth | Dementia | Dental malocclusion | Diarrhea | Dry hair | Dry skin | Dysarthria | Elevated circulating hepatic transaminase concentration | Enamel hypoplasia | Failure to thrive | Fetal onset | Foot joint contracture | Gait disturbance | Global developmental delay | Hearing impairment | Hepatomegaly | Hip contracture | Hypermelanotic macule | Hypermetropia | Hyperreflexia | Hypertension | Hypogonadism | Hypohidrosis | Hypoplasia of teeth | Hypoplastic iliac wing | Hypoplastic pelvis | Hypotonia | Increased blood urea nitrogen | Increased cellular sensitivity to UV light | Infantile onset | Intellectual disability | Intrauterine growth retardation | Irregular menstruation | Ivory epiphyses of the phalanges of the hand | Kyphosis | Limitation of joint mobility | Long face | Loss of facial adipose tissue | Lower limb spasticity | Macrotia | Male hypogonadism | Mandibular prognathia | Microcephaly | Micropenis | Muscle weakness | Normal pressure hydrocephalus | Nystagmus | Opacification of the corneal stroma | Optic atrophy | Patchy demyelination of subcortical white matter | Peripheral dysmyelination | Persistent left superior vena cava | Photophobia | Pigmentary retinopathy | Polyneuropathy | Postnatal growth retardation | Postural instability | Prematurely aged appearance | Progeroid facial appearance | Prominent nose | Proteinuria | Reduced subcutaneous adipose tissue | Renal insufficiency | Retinal atrophy | Retinal pigment epithelial mottling | Scarring | Scoliosis | Seizure | Sensorineural hearing impairment | Severe postnatal growth retardation | Severe short stature | Short chin | Short stature | Sleep disturbance | Slender nose | Sparse hair | Splenomegaly | Square pelvis bone | Strabismus | Thickened calvaria | Thymic hormone decreased | Tremor | Uveitis | Ventriculomegaly | Visual impairment | Widely spaced primary teeth | obsolete Hypoplasia of the primary teeth" ], "symptoms_ja_list": [ "Dementia | ブドウ膜炎 | プロゲリア様顔貌 | ポリニューロパチー | メラニン増加性斑 | 下痢 | 下肢痙性 | 下顎突出 | 不整脈 | 不正咬合 | 乳歯低形成 | 乳歯萠出遅延 | 乳歯間隔離 | 乾いた毛髪 | 乾いた皮膚 | 低身長 | 体温調節の異常 | 停留精巣 | 側弯 | 全般性発達遅滞 | 分厚い頭蓋冠 | 反射亢進 | 四角い骨盤 | 基底核石灰化 | 塩胡椒網膜症 | 大耳 | 大脳萎縮 | 姿勢不安定 | 子宮内成長遅滞 | 小脳萎縮 | 小陰茎 | 小頭 | 常染色体潜性遺伝 | 後弯 | 性腺機能低下症 | 感音難聴 | 成長障害 (成長不全) | 持続性左上大静脈 | 指骨象牙骨端 | 振戦 | 斜視 | 早老外観 | 月経不純 | 末梢神経伝導の異常 | 末梢神経髄鞘異形成 | 構音障害 | 正常圧水頭症 | 歩行障害 | 歯の異常 | 歯エナメル質低形成 | 歯低形成 | 流涙減少 | 減汗症 | 無歯 | 無汗症 | 無眼球 | 生後の成長遅滞 | 男性性腺機能低下症 | 異常な末梢髄鞘形成 | 異常な聴性誘発反応 | 異常な顔の形 | 疎な毛髪 | 瘢痕 | 発作 | 白内障 | 皮下脂肪組織減少 | 皮膚光線過敏症 | 皮膚色素の異常 | 皮質下白質斑状脱髄 | 目立つ鼻 | 眼振 | 睡眠障害 | 知的障害 | 短い下顎 | 神経活動電位の振幅減少 | 筋緊張低下 | 筋虚弱 | 紫外線への細胞感受性増加 | 細い鼻 | 結膜炎 | 網膜萎縮 | 羞明 | 耳介の異常 | 肝トランスアミナーゼ上昇 | 肝腫 | 股関節拘縮 | 胸腺ホルモン減少 | 脳室拡大 | 脳幹聴覚反応欠損 | 脾腫 | 腎不全 | 腸骨翼低形成 | 色素性網膜症 | 落ちくぼんだ眼 | 蛋白尿 | 血中尿素窒素(BUN)増加 | 視力障害 | 視神経萎縮 | 視覚誘発電位の異常 | 角膜間質混濁形成 | 貧血 | 足関節の拘縮 | 運動失調 | 遠視 | 重度の低身長 | 重度の生後の成長遅滞 | 長い顔 | 関節運動制限 | 難聴 | 非典型的皮膚瘢痕 | 顔面脂肪組織喪失 | 骨盤低形成 | 高血圧 | 齲歯" ] }, { "id": "NANDO:2200445", "label_en": "Interleukin-10/interleukin-10 receptor deficiency", "label_ja": "IL-10/IL-10受容体遺伝子異常症", "yomigana": "あいえる10/あいえる10じゅようたいいでんしいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200445", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200403", "label_en": "Congenital adrenal hypoplasia", "label_ja": "先天性副腎低形成症", "yomigana": "せんてんせいふくじんていけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200403", "notificationNumber": "82", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Absence of pubertal development | Adrenal hypoplasia | Adrenal insufficiency | Adrenocortical cytomegaly | Azoospermia | Childhood onset | Cryptorchidism | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Decreased testicular size | Dehydration | Delayed puberty | Diarrhea | Erectile dysfunction | Failure to thrive | Failure to thrive in infancy | Fatigue | Hyperkalemia | Hyperpigmentation of the skin | Hypogonadotropic hypogonadism | Hyponatremia | Increased circulating ACTH level | Infantile onset | Juvenile onset | Muscular dystrophy | Nausea | Neonatal onset | Oligozoospermia | Precocious puberty | Primary adrenal insufficiency | Renal salt wasting | Seizure | Sparse pubic hair | Vertigo | Vomiting | Weight loss | X-linked recessive inheritance | Young adult onset" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | 下痢 | 乏精子症 | 乳児期の成長障害 (成長不全) | 低アルドステロン症 | 低ゴナドトロピン性性腺機能低下症 | 低ナトリウム血症 | 体重喪失 | 停留精巣 | 副腎不全 | 副腎低形成 | 副腎皮質巨細胞腫 | 勃起異常 | 原発性副腎不全 | 吐気 | 嘔吐 | 循環性ACTH 値増加 | 循環性コルチゾール値減少 | 思春期早発 | 思春期発達欠損 | 思春期遅発 | 成長障害 (成長不全) | 無精子症 | 疎な恥毛 | 疲労 | 発作 | 皮膚高色素 | 眩暈 | 筋ジストロフィー | 精巣サイズ減少 | 脱水 | 腎性塩類喪失 | 高カリウム血症" ] }, { "id": "NANDO:1200525", "label_en": "Alternating hemiplegia of childhood", "label_ja": "小児交互性片麻痺", "yomigana": "しょうにこうごせいかたまひ", "url": "http://nanbyodata.jp/ontology/NANDO_1200525", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abdominal distention | Abnormal T-wave | Abnormal autonomic nervous system physiology | Abnormal involuntary eye movements | Abnormal pyramidal sign | Abnormality of the gastrointestinal tract | Aggressive behavior | Anorexia | Apnea | Areflexia | Arrhythmia | Aspiration | Ataxia | Atypical behavior | Bilateral tonic-clonic seizure | Bulbar signs | Cardiomyopathy | Chorea | Choreoathetosis | Constipation | Dehydration | Delayed speech and language development | Diarrhea | Downturned corners of mouth | Dysarthria | Dysphagia | Dystonia | EEG abnormality | Emotional lability | Episodic hemiplegia | Esotropia | Exaggerated cupid's bow | Exotropia | Facial hypotonia | Failure to thrive | Focal motor seizure | Gastrointestinal dysmotility | Headache | High forehead | Hyperhidrosis | Hyperreflexia | Hypotonia | Impulsivity | Intellectual disability | Mydriasis | Neurodevelopmental delay | Nystagmus | Oculomotor apraxia | Oral-pharyngeal dysphagia | Pallor | Paroxysmal dyskinesia | Progressive neurologic deterioration | Respiratory distress | Rigidity | Seizure | Status epilepticus | Tetraparesis | Tremor | Vomiting" ], "symptoms_ja_list": [ "てんかん重積 | ジストニア | 下痢 | 不整脈 | 便秘 | 全身性間代性強直性発作 | 内斜視 | 反射亢進 | 口腔咽頭嚥下障害 | 口角下垂 | 呼吸窮迫 | 嘔吐 | 嚥下障害 | 四肢不全麻痺 | 外斜視 | 多汗 | 心筋症 | 心電図: T-波異常 | 情動不安定 | 成長障害 (成長不全) | 振戦 | 攻撃的行動 | 散瞳 | 構音障害 | 無反射 | 無呼吸 | 焦点性運動発作 | 片麻痺エピソード | 球症状 | 異常な不随意眼運動 | 異常な自律神経生理 | 発作 | 発作性ジスキネジア | 発語および言語発達遅延 | 眼振 | 眼球運動失行症 | 知的障害 | 硬直 | 神経発生遅延 | 筋緊張低下 | 胃腸管の異常 | 胃腸蠕動運動異常 | 脱水 | 脳波異常 | 腹部膨満 | 舞踏病 | 舞踏病アテトーゼ | 蒼白 | 行動異常 | 衝動性 | 誇張されたキューピッドの弓 | 誤嚥 | 進行性神経学的悪化 | 運動失調 | 錐体路運動機能の異常 | 頭痛 | 顔面筋緊張低下 | 食思不振 | 高い額" ] }, { "id": "NANDO:1200077", "label_en": "Adult Krabbe disease", "label_ja": "成人型クラッベ病", "yomigana": "せいじんがたくらっべびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200077", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal corpus callosum morphology | Abnormal corticospinal tract morphology | Abnormal medulla oblongata morphology | Abnormal midbrain morphology | Abnormal pons morphology | Abnormal pyramidal tract morphology | Ataxia | Babinski sign | Broad-based gait | CNS demyelination | Clumsiness | Delayed brainstem auditory evoked response conduction time | Dementia | EEG abnormality | Erectile dysfunction | Frequent falls | Functional motor deficit | Gait disturbance | Hemiplegia | Hyperactive deep tendon reflexes | Impaired tactile sensation | Increased CSF protein concentration | Loss of speech | Lower limb muscle weakness | Mental deterioration | Peripheral demyelination | Peripheral neuropathy | Pes cavus | Progressive neurologic deterioration | Progressive spastic paraparesis | Scoliosis | Sensorimotor neuropathy | Skeletal muscle atrophy | Somatic sensory dysfunction | Spasticity | Tetraparesis | Upper limb muscle weakness | Upper motor neuron dysfunction | Urinary incontinence | Visual loss" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | 上肢筋虚弱 | 下肢筋虚弱 | 不器用 | 中枢神経脱髄 | 中脳形態の異常 | 側弯 | 凹足 | 勃起異常 | 四肢不全麻痺 | 幅広歩行 | 延髄の異常 | 感覚運動ニューロパチー | 感覚障害 | 末梢神経ニューロパチー | 末梢神経脱髄 | 橋の異常 | 機能的筋異常 | 歩行障害 | 深部腱反射亢進 | 片麻痺 | 痙性 | 発語喪失 | 皮質脊髄路の異常 | 皮質脊髄路機能障害 | 知能悪化 | 筋萎縮 | 脳梁の異常 | 脳波異常 | 視力喪失 | 触覚障害 | 進行性痙性対不全麻痺 | 進行性神経学的悪化 | 運動失調 | 遷延性脳幹聴性誘発反応 | 遺尿 | 錐体路の形態異常 | 頻回の転倒 | 髄液タンパクの増加 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2100308", "label_en": "Congenital esophageal atresia", "label_ja": "先天性食道閉鎖症", "yomigana": "せんてんせいしょくどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100308", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100306", "label_en": "Non-dystrophic myotonia", "label_ja": "非ジストロフィー性ミオトニー症候群", "yomigana": "ひじすとろふぃーせいみおとにーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100306", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100281", "label_en": "Skin disease", "label_ja": "皮膚疾患群", "yomigana": "ひふしっかんぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100281", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201096", "label_en": "Presymptomatic argininosuccinic aciduria", "label_ja": "発症前型アルギニノコハク酸尿症", "yomigana": "はっしょうまえがたあるぎにのこはくさんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201096", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201392", "label_en": "Holt-Oram syndrome", "label_ja": "ホルト・オーラム症候群", "yomigana": "ほると・おーらむしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201392", "notificationNumber": "92", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100299", "symptoms_en_list": [ "1-2 finger cutaneous syndactyly | 11 pairs of ribs | 2-3 finger cutaneous syndactyly | 3-4 finger cutaneous syndactyly | Abdominal situs inversus | Abnormal aortic morphology | Abnormal cardiovascular system morphology | Abnormal carpal morphology | Abnormal clavicle morphology | Abnormal coronary artery origin | Abnormal metacarpal morphology | Abnormal rib morphology | Absent radius | Absent thumb | Amelia involving the upper limbs | Anomalous pulmonary venous return | Aplasia of the 1st metacarpal | Aplasia of the 2nd finger | Aplasia of the 3rd finger | Aplasia of the distal phalanx of the 4th toe | Aplasia of the pectoralis major muscle | Aplasia of the ulna | Aplasia/Hypoplasia of the radius | Atrial septal defect | Atrial septal dilatation | Atrioventricular block | Atrioventricular canal defect | Atrioventricular dissociation | Autosomal dominant inheritance | Broad thumb | Cervical C2/C3 vertebral fusion | Cleft soft palate | Clinodactyly of the 5th finger | Common atrium | Complete atrioventricular canal defect | Congenital onset | Coronary sinus atrial septal defect | Distally placed thumb | Dolichocephaly | Double outlet right ventricle | Down-sloping shoulders | Duplication of the distal phalanx of the 3rd toe | Elbow dislocation | Finger syndactyly | First degree atrioventricular block | Hand monodactyly | High palate | Hypoplasia of right ventricle | Hypoplasia of the radius | Hypoplasia of the ulna | Hypoplastic left ventricle | Hypoplastic scapulae | Joint stiffness | Kyphosis | Left ventricular noncompaction cardiomyopathy | Limited elbow extension | Limited pronation/supination of forearm | Long philtrum | Micrognathia | Mitral regurgitation | Mitral valve prolapse | Muscular ventricular septal defect | Narrow chest | Paroxysmal atrial fibrillation | Partial duplication of thumb phalanx | Patent ductus arteriosus | Patent foramen ovale | Pectus excavatum | Perimembranous ventricular septal defect | Persistent left superior vena cava | Phocomelia | Postaxial hand polydactyly | Proximal placement of thumb | Pulmonary arterial hypertension | Pulmonic stenosis | Radial bowing | Radial deviation of the hand | Radioulnar synostosis | Sacral dimple | Scoliosis | Secundum atrial septal defect | Shield chest | Short 1st metacarpal | Short clavicles | Short digit | Short forearm | Short humerus | Short middle phalanx of the 2nd finger | Short middle phalanx of the 5th finger | Short neck | Short thumb | Shoulder dislocation | Single transverse palmar crease | Sinus bradycardia | Sinus venosus atrial septal defect | Small hypothenar eminence | Small thenar eminence | Split hand | Sprengel anomaly | Syndactyly | Third degree atrioventricular block | Thoracic scoliosis | Tricuspid regurgitation | Tricuspid valve prolapse | Triphalangeal thumb | Ulnar bowing | Ulnar deviation of thumb | Upper limb phocomelia | Upper limb undergrowth | Ventricular septal defect | Ventricular tachycardia | Y-shaped metatarsals" ], "symptoms_ja_list": [ "11 対肋骨 | 1度房室ブロック | 3度房室ブロック | Sprengel 奇形 | Y字型中足骨 | なで肩 | アザラシ肢 | 三尖弁逆流 | 三尖弁逸脱 | 三指節母指 | 上肢アザラシ肢 | 上肢成長不全 | 両大血管右室起始症 | 中手骨形態異常 | 二次口心房中隔欠損症 | 仙骨部陥凹 | 低形成 of right ventricle | 側弯 | 僧帽弁逆流 | 僧帽弁逸脱 | 冠状動脈起始異常 | 冠状静脈洞心房中隔欠損 | 前弯回内/回外制限 | 動脈管開存症 | 単心房 | 単指 | 卵円孔開存 | 合指症 | 合指趾症 | 大動脈の異常 | 大胸筋無形成 | 完全型房室管欠損 | 小さい小指球隆起 | 小さい母指球 | 小顎 | 尺骨低形成 | 尺骨欠損 | 尺骨湾曲 | 左室緻密化障害性心筋症 | 左心低形成 | 常染色体顕性遺伝 | 幅広い母指 | 後弯 | 循環器系の形態異常 | 心室中隔欠損 | 心室性 頻拍 | 心房中隔動脈瘤 | 心房中隔欠損 | 房室ブロック | 房室管欠損 | 房室解離 | 手の橈側偏位 | 手掌横線 | 手根骨の異常 | 持続性左上大静脈 | 橈側湾曲 | 橈尺骨癒合 | 橈骨低形成 | 橈骨欠損 | 橈骨無形成/低形成 | 母指の尺側偏位 | 母指指骨の部分重複 | 母指欠損 | 洞性徐脈 | 漏斗胸 | 無肢症", "上肢 | 狭い胸郭 | 発作性心房細動 | 盾状胸 | 短い上腕骨 | 短い前腕 | 短い指趾 | 短い母指 | 短い第1中手骨 | 短い第2指の中節骨 | 短い第5指中節骨 | 短い鎖骨 | 短い頸部 | 第1-2合指症 | 第1中手骨無形成 | 第2-3合指症 | 第2指無形成 | 第3-4指皮膚性合指症 | 第3指無形成 | 第3趾末節骨重複 | 第4趾指末節骨無形成 | 第5指弯指 | 筋性心室中隔欠損 | 肋骨の異常 | 肘伸展制限 | 肘脱臼 | 肩甲骨低形成 | 肩脱臼 | 肺動脈狭窄 | 肺静脈還流異常 | 肺高血圧 | 胸部側弯 | 腹部内臓逆位 | 膜様部周囲心室中隔欠損 | 裂手 | 軟口蓋裂 | 軸後性多指症 | 近位母指 | 遠位付着母指 | 鎖骨の異常 | 長い人中 | 長頭 | 関節拘縮 | 静脈洞心房中隔欠損症 | 頚椎癒合 (C2/C3) | 高口蓋" ] }, { "id": "NANDO:2200099", "label_en": "Primitive neuroectodermal tumour of the central nervous system", "label_ja": "未分化神経外胚葉性腫瘍（中枢性のものに限る。）", "yomigana": "みぶんかしんけいがいはいようせいしゅよう（ちゅうすうせいのものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200099", "notificationNumber": "66", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100231", "label_en": "Spinal muscular atrophy", "label_ja": "脊髄性筋萎縮症", "yomigana": "せきずいせいきんいしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100231", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200593", "label_en": "Ohtahara syndrome", "label_ja": "大田原症候群", "yomigana": "おおたはらしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200593", "notificationNumber": "146", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201010", "label_en": "Hypochondroplasia", "label_ja": "軟骨低形成症", "yomigana": "なんこつていけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201010", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal femur morphology | Abnormal metaphysis morphology | Abnormal pelvic girdle bone morphology | Abnormal vertebral body morphology | Abnormality of the elbow | Acanthosis nigricans | Aplasia/hypoplasia of the extremities | Autosomal dominant inheritance | Bowing of the long bones | Brachydactyly | Childhood onset short-limb short stature | Craniosynostosis | Depressed nasal bridge | Disproportionate short-limb short stature | Flared metaphysis | Frontal bossing | Genu varum | Hyperlordosis | Intellectual disability | Joint hypermobility | Juvenile onset | Limited elbow extension | Lumbar hyperlordosis | Macrocephaly | Malar flattening | Micromelia | Osteoarthritis | Prominent forehead | Scoliosis | Short femoral neck | Short long bone | Short toe | Skeletal dysplasia | Sleep apnea | Spinal canal stenosis | Trident hand | Widened interpedicular distance" ], "symptoms_ja_list": [ "不均衡型短肢低身長 | 側弯 | 内反膝 | 前弯 | 前頭突出", "額突出 | 四肢無形成/低形成 | 大腿骨の異常 | 大頭 | 小児期発症短肢低身長 | 小肢症 | 常染色体顕性遺伝 | 平坦な頬 | 椎体骨形態異常 | 椎弓根間距離拡大 | 目立つ額 | 睡眠時無呼吸 | 知的障害 | 短い大腿骨頸部 | 短い趾 | 短い長管骨 | 短指症候群 | 肘伸展制限 | 肘異常 | 脊椎管狭窄 | 腰椎前弯 hyperlordosis | 落ちくぼんだ鼻梁 | 鉾状の手 | 長管骨湾曲 | 関節過動 | 頭蓋合骨症 | 骨幹端の異常 | 骨幹端フレア | 骨格異形成 | 骨盤帯骨の形態異常 | 骨関節炎 | 黒色表皮腫" ] }, { "id": "NANDO:2100056", "label_en": "Non-compaction of the ventricle", "label_ja": "心筋緻密化障害", "yomigana": "しんきんちみつかしょうがい", "url": "http://nanbyodata.jp/ontology/NANDO_2100056", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200432", "label_en": "Sporadic retinitis pigmentosa", "label_ja": "網膜色素変性症（孤発型）", "yomigana": "もうまくしきそへんせいしょう（こはつがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200432", "notificationNumber": "90", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200793", "label_en": "Methylmalonic acidemia", "label_ja": "メチルマロン酸血症", "yomigana": "めちるまろんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200793", "notificationNumber": "246", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201144", "label_en": "DYT25 Dystonia", "label_ja": "DYT25 ジストニア", "yomigana": "でぃーわいてぃー25じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1201144", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Adult onset | Autosomal dominant inheritance | Axial dystonia | Craniofacial dystonia | Dysphonia | Focal dystonia | Juvenile onset | Laryngeal dystonia | Limb dystonia | Torticollis" ], "symptoms_ja_list": [ "喉頭ジストニア | 四肢ジストニア | 常染色体顕性遺伝 | 斜頚 | 焦点性ジストニア | 発音障害 | 軸性ジストニア | 頭蓋顔面ジストニア" ] }, { "id": "NANDO:2200714", "label_en": "Hepatic veno-occlusive disease with immunodeficiency", "label_ja": "肝中心静脈閉鎖症を伴う免疫不全症", "yomigana": "かんちゅうしんじょうみゃくへいさしょうをともなうめんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200714", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [ "Abnormal circulating interleukin concentration | Abnormality of the liver | Absence of lymph node germinal center | Anemia | Ascites | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Chronic hepatic failure | Cough | Decreased circulating IgG concentration | Decreased total T cell count | Diarrhea | Elevated circulating hepatic transaminase concentration | Endocardial fibrosis | Failure to thrive in infancy | Hemiparesis | Hepatomegaly | Hepatosplenomegaly | Immunodeficiency | Jaundice | Leukodystrophy | Microcephaly | Pancytopenia | Panhypogammaglobulinemia | Paraparesis | Paraplegia | Portal hypertension | Pulmonary fibrosis | Recurrent abscess formation | Recurrent aspiration pneumonia | Recurrent enteroviral infections | Recurrent mucocutaneous candidiasis | Recurrent respiratory infections | Recurrent viral infections | Thrombocytopenia | Urinary retention" ], "symptoms_ja_list": [ "IgG欠乏症 | T リンパ球減少症 | インターロイキン分泌の異常 | リンパ節胚中心の異常 | ロイコジストロフィー | 下痢 | 不全対麻痺 | 不全麻痺 | 乳児期の成長障害 (成長不全) | 免疫不全 | 全身性間代性強直性発作 | 反復性ウイルス感染症 | 反復性エンテロウイルス感染症 | 反復性呼吸器感染症 | 反復性膿瘍形成 | 反復性誤嚥性肺炎 | 外層 | 小頭 | 尿閉 | 常染色体潜性遺伝 | 心内膜線維症 | 慢性粘膜皮膚カンジダ症 | 慢性肝不全 | 汎低ガンマグロブリン血症 | 汎血球減少症 | 片側不全麻痺 | 肝の異常 | 肝トランスアミナーゼ上昇 | 肝脾腫 | 肝腫 | 肺線維症 | 腹水 | 血小板減少 | 貧血 | 門脈圧亢進 | 黄疸" ] }, { "id": "NANDO:2200298", "label_en": "Pulmonary arterial hypertension", "label_ja": "肺動脈性肺高血圧症", "yomigana": "はいどうみゃくせいはいこうけつあつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200298", "notificationNumber": "83", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100103", "symptoms_en_list": [ "Abnormal cardiovascular system physiology | Chest pain | Dyspnea | Fatigue | Hepatomegaly | Palpitations | Pedal edema | Pulmonary arterial hypertension | Right ventricular dilatation | Syncope | Tricuspid regurgitation" ], "symptoms_ja_list": [ "三尖弁逆流 | 共通 | 動悸 | 右室拡張 | 呼吸困難 | 失心 | 心血管系生理の異常 | 浮腫 (下肢) | 疲労 | 肝腫 | 肺高血圧" ] }, { "id": "NANDO:2201101", "label_en": "Late-onset hyperarginemia", "label_ja": "遅発型高アルギニン血症", "yomigana": "ちはつがたこうあるぎにんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201101", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201262", "label_en": "Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome", "label_ja": "デルマタン4-O-硫酸基転移酵素-1欠損型エーラス・ダンロス症候群", "yomigana": "でるまたん4おーりゅうさんきてんいこうそ1けっそんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201262", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100172", "symptoms_en_list": [ "Abnormal bleeding | Abnormal heart morphology | Abnormal heart valve morphology | Abnormal mesentery morphology | Abnormal pinna morphology | Abnormal sternum morphology | Abnormality of the cervical spine | Arthrogryposis multiplex congenita | Astigmatism | Atlantoaxial dislocation | Atrophic scars | Blue sclerae | Bruising susceptibility | Cervical kyphosis | Cleft palate | Constipation | Craniosynostosis | Cryptorchidism | Decreased muscle mass | Decreased palmar creases | Delayed gross motor development | Disproportionate tall stature | Downslanted palpebral fissures | Dysesthesia | Functional abnormality of the bladder | Generalized joint hypermobility | Glaucoma | Hearing impairment | High palate | Horseshoe kidney | Hydronephrosis | Hyperextensible skin | Hypertelorism | Inguinal hernia | Kidney stone | Kyphoscoliosis | Large fontanelles | Long philtrum | Macrotia | Malrotation of small bowel | Microretrognathia | Muscle weakness | Myopathy | Myopia | Narrow mouth | Ocular hypertension | Pneumothorax | Posteriorly rotated ears | Prominent nasolabial fold | Protruding ear | Recurrent skin infections | Redundant skin | Retinal detachment | Scoliosis | Short nose | Slender finger | Strabismus | Subcutaneous hemorrhage | Tapered finger | Thin upper lip vermilion | Ventriculomegaly" ], "symptoms_ja_list": [ "ミオパチー | 不均衡型高身長 | 両眼隔離 | 乱視 | 便秘 | 停留精巣 | 側弯 | 先天性多発性関節拘縮 | 先細りの指 | 全身性関節弛緩 | 出血傾向 | 反復性皮膚感染症 | 口蓋裂 | 大きな泉門 | 大耳 | 小腸回転異常 | 小顎後退 | 後側弯 | 心弁の異常 | 心形態の異常 | 感覚異常 | 手掌屈曲線減少 | 斜視 | 気胸 | 水腎症 | 狭い口 | 環軸椎脱臼 | 異常な出血 | 皮下出血 | 目立つ鼻唇ヒダ | 眼内圧の増加 | 眼瞼裂斜下 | 短い鼻 | 筋虚弱 | 筋量減少 | 粗大運動発達遅延 | 細い指 | 網膜剥離 | 緑内障 | 耳介の異常 | 耳介後方回転 | 耳介聳立 | 胸骨の異常 | 脳室拡大 | 腎結石 | 腸間膜の異常 | 膀胱機能異常 | 萎縮性瘢痕 | 薄い上口唇唇紅部 | 近視 | 過伸展皮膚 | 過剰な皮膚 | 長い人中 | 難聴 | 青色胸膜 sclerae | 頚椎の異常 | 頚椎後弯 | 頭蓋合骨症 | 馬蹄腎 | 高口蓋 | 鼠径ヘルニア" ] }, { "id": "NANDO:1201152", "label_en": "Aceruloplasminemia", "label_ja": "無セルロプラスミン血症", "yomigana": "むせるろぷらすみんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201152", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal corpus striatum morphology | Abnormal dentate nucleus morphology | Abnormal pancreas morphology | Abnormal retinal pigmentation | Abnormal thalamic MRI signal intensity | Abnormality of extrapyramidal motor function | Abnormality of the nervous system | Adult onset | Akinesia | Anemia | Apathy | Ataxia | Autosomal recessive inheritance | Blepharospasm | Chorea | Cirrhosis | Cognitive impairment | Cogwheel rigidity | Congestive heart failure | Craniofacial dystonia | Decreased circulating ceruloplasmin concentration | Decreased circulating copper concentration | Dementia | Diabetes mellitus | Dysarthria | Dystonia | Elevated hepatic iron concentration | Facial grimacing | Gait ataxia | Hepatic fibrosis | Hypochromic microcytic anemia | Increased circulating ferritin concentration | Involuntary movements | Iron accumulation in brain | Limb ataxia | Macular degeneration | Memory impairment | Nystagmus | Parkinsonism | Refractory anemia | Retinal degeneration | Rigidity | Scanning speech | Torticollis | Tremor" ], "symptoms_ja_list": [ "Dementia | うっ血性心不全 | しかめ顔 | ジストニア | パーキンソン症候群 | 不随意運動 | 低色素性小球性貧血 | 低銅血症 | 四肢失調 | 常染色体潜性遺伝 | 振戦 | 斜頚 | 断綴言 | 構音障害 | 歩行失調 | 歯状核の異常 | 歯車様硬直 | 無動症 | 無関心", "感情鈍磨 | 異常な視床MRI シグナル強度 | 眼振 | 眼瞼スパスム | 硬直 | 神経系の異常 | 糖尿病 | 網膜変性 | 網膜色素異常 | 線条体の異常 | 肝の鉄濃度上昇 | 肝硬変 | 肝線維症 | 脳内鉄沈着 | 膵形態の異常 | 舞踏病 | 血清セルロプラスミン減少 | 血清フェリチン増加 | 記憶障害 | 認知障害 | 貧血 | 運動失調 | 錐体外路運動機能の異常 | 難治性貧血 | 頭蓋顔面ジストニア | 高度/補酵素活性異常 | 黄斑変性" ] }, { "id": "NANDO:2201306", "label_en": "Non-syndromic squamosal craniosynostosis", "label_ja": "非症候性頭蓋骨縫合早期癒合症（鱗状縫合）", "yomigana": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう（りんじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201306", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201332", "label_en": "Antley-Bixler syndrome (coronal synostosis)", "label_ja": "アントレー・ビクスラー症候群（冠状縫合）", "yomigana": "あんとれー・びくすらーしょうこうぐん（かんじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201332", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200868", "label_en": "Congenital fiber-type disproportion myopathy", "label_ja": "先天性筋線維不均等症", "yomigana": "せんてんせいきんせんいふきんとうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200868", "notificationNumber": "50", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100234", "symptoms_en_list": [ "Abnormal heart morphology | Abnormal skeletal morphology | Abnormality of the respiratory system | Ankle flexion contracture | Areflexia | Aspiration pneumonia | Congenital hip dislocation | Cor pulmonale | Decreased fetal movement | Dental crowding | Diminished deep tendon reflex | Dysphagia | Easy fatigability | Elbow flexion contracture | Failure to thrive | Fatigue | Feeding difficulties | Flexion contracture | Flexion contracture of finger | Foot dorsiflexor weakness | Generalized muscle weakness | Headache | High palate | Hip contracture | Hoarse voice | Hypercapnia | Hyperlordosis | Hypoplasia of the musculature | Hypotonia | Hypoxemia | Impaired mastication | Intercostal muscle weakness | Knee flexion contracture | Kyphoscoliosis | Long face | Micrognathia | Motor delay | Myopathic facies | Nasogastric tube feeding in infancy | Ophthalmoplegia | Pectus excavatum | Pelvic girdle muscle weakness | Pes cavus | Polyhydramnios | Poor appetite | Poor head control | Progressive muscle weakness | Recurrent respiratory infections | Respiratory failure | Respiratory insufficiency due to muscle weakness | Scoliosis | Shoulder girdle muscle weakness | Sleep disturbance | Talipes equinovarus | Type 1 muscle fiber atrophy | Weakness of muscles of respiration | Weight loss" ], "symptoms_ja_list": [ "1型筋線維萎縮 | ミオパチー顔貌 | 乳児期の鼻腔栄養 | 低酸素血症への感受性の減少 | 体重喪失 | 側弯 | 先天性股関節脱臼 | 全身性筋虚弱 | 内反尖足 | 凹足 | 前弯 | 反復性呼吸器感染症 | 呼吸不全 | 呼吸器の異常 | 呼吸筋虚弱 | 咀嚼こんな | 嗄声 | 嚥下障害 | 小顎 | 屈曲拘縮 | 後側弯 | 心形態の異常 | 成長障害 (成長不全) | 指屈曲拘縮 | 易疲労性 | 歯混雑 | 漏斗胸 | 無反射 | 疲労 | 眼筋麻痺 | 睡眠障害 | 筋低形成 | 筋緊張低下 | 筋虚弱による呼吸不全 | 羊水過多 | 肋間筋虚弱 | 肘屈曲拘縮 | 股関節拘縮 | 肩帯筋虚弱 | 肺性心 | 胎動減少 | 腱反射減少 | 膝屈曲拘縮 | 誤嚥性肺炎 | 足背屈筋虚弱 | 足関節拘縮 | 進行性筋虚弱 | 運動発達遅滞 | 長い顔 | 頭痛 | 頸定不全 | 食思不振 | 食餌摂取障害 | 骨格形態の異常 | 骨盤帯筋筋虚弱 | 高二酸化炭素症 | 高口蓋" ] }, { "id": "NANDO:1201178", "label_en": "Sporadic lymphangioleiomyomatosis", "label_ja": "孤発性LAM", "yomigana": "こはつせいらむ", "url": "http://nanbyodata.jp/ontology/NANDO_1201178", "notificationNumber": "89", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Pulmonary lymphangiomyomatosis | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "体細胞モザイク | 肺リンパ管筋腫症" ] }, { "id": "NANDO:2200621", "label_en": "Paroxysmal nocturnal hemoglobinuria", "label_ja": "発作性夜間ヘモグロビン尿症", "yomigana": "ほっさせいやかんへもぐろびんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200621", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100182", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200880", "label_en": "Unverricht-Lundborg disease", "label_ja": "ウンフェルリヒト・ルントボルク病", "yomigana": "うんふぇるりひと・るんとぼるくびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200880", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100237", "symptoms_en_list": [ "Ataxia | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Cutaneous photosensitivity | Dementia | Dysarthria | EEG with polyspike wave complexes | EEG with spike-wave complexes | Generalized non-motor (absence) seizure | Intellectual disability | Intention tremor | Interictal epileptiform activity | Juvenile onset | Limb ataxia | Mental deterioration | Mild intellectual disability | Morning myoclonic jerks | Myoclonus" ], "symptoms_ja_list": [ "Dementia | てんかん型脳波放電 | ミオクローヌス | 企図振戦 | 全身性間代性強直性発作 | 四肢失調 | 多棘除波複合を伴う脳波 | 常染色体潜性遺伝 | 朝のミオクローヌス発作 | 棘波複合を伴う脳波 | 構音障害 | 欠神発作 | 皮膚光線過敏症 | 知的障害 | 知的障害", "軽度 | 知能悪化 | 運動失調" ] }, { "id": "NANDO:1200237", "label_en": "Dominant dystrophic epidermolysis bullosa", "label_ja": "優性栄養障害型表皮水疱症", "yomigana": "ゆうせいえいようしょうがいがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200237", "notificationNumber": "36", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200560", "label_en": "Metachromatic leukodystrophy", "label_ja": "異染性白質ジストロフィー", "yomigana": "いせんせいはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200560", "notificationNumber": "112", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal duodenum morphology | Abnormal gallbladder morphology | Abnormal stomach morphology | Abnormality of visual evoked potentials | Ataxia | Atypical behavior | Bowel incontinence | Decreased nerve conduction velocity | Dementia | Developmental regression | Dysarthria | Dystonia | Emotional lability | Feeding difficulties | Floppy infant | Frequent falls | Gait disturbance | Gastrostomy tube feeding in infancy | Hearing impairment | Hemobilia | Hyporeflexia | Incoordination | Increased CSF protein concentration | Intussusception | Limb pain | Muscle spasm | Muscle weakness | Neoplasm of the gallbladder | Pain | Peripheral neuropathy | Periventricular leukomalacia | Personality changes | Progressive spasticity | Psychosis | Schizophrenia | Seizure | Tremor | Urinary incontinence | Visual impairment" ], "symptoms_ja_list": [ "Dementia | ジストニア | 乳児期の胃瘻管栄養 | 乳児筋性筋緊張低下 | 十二指腸の異常 | 協調運動障害 | 反射低下 | 四肢痛 | 性格変化 | 情動不安定 | 振戦 | 末梢神経ニューロパチー | 構音障害 | 歩行障害 | 異常な胆嚢形態 | 疼痛 | 発作 | 発達退行 | 神経活動電位の振幅減少 | 筋けいれん | 筋虚弱 | 精神病 | 統合失調症 | 胃の異常 | 胆嚢新生物 | 脳室周囲白質軟化症 | 腸重積 | 血性胆汁 | 行動異常 | 視力障害 | 視覚誘発電位の異常 | 進行性痙性 | 運動失調 | 遺尿 | 遺糞症 | 難聴 | 頻回の転倒 | 食餌摂取障害 | 髄液タンパクの増加 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2200820", "label_en": "Septo-optic dysplasia", "label_ja": "中隔視神経形成異常症", "yomigana": "ちゅうかくししんけいけいせいいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200820", "notificationNumber": "91", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormality of the hypothalamus-pituitary axis | Absent septum pellucidum | Agenesis of corpus callosum | Anosmia | Anterior pituitary hypoplasia | Aplasia/Hypoplasia of the cerebellum | Autism | Autosomal dominant inheritance | Autosomal recessive inheritance | Cleft palate | Constipation | Cryptorchidism | Decreased response to growth hormone stimulation test | Diabetes insipidus | Dry skin | Esophageal atresia | Fatigue | Global developmental delay | Hemiplegia/hemiparesis | Hypohidrosis | Hypoplasia of penis | Intellectual disability | Maternal diabetes | Nystagmus | Obesity | Optic disc hypoplasia | Optic nerve hypoplasia | Polydactyly | Polydipsia | Seizure | Sensorineural hearing impairment | Septo-optic dysplasia | Short finger | Short stature | Sleep disturbance | Strabismus | Tracheoesophageal fistula | Visual impairment" ], "symptoms_ja_list": [ "下垂体前葉低形成 | 中隔視神経異形成 | 乾いた皮膚 | 低身長 | 便秘 | 停留精巣 | 全般性発達遅滞 | 口蓋裂 | 多指趾症 | 多飲 | 小脳無形成/低形成 | 尿崩症 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 循環器系の形態異常 | 感音難聴 | 成長ホルモン欠乏症 | 斜視 | 母体糖尿病 | 気管食道瘻 | 減汗症 | 無嗅覚 | 片麻痺/片側不全麻痺 | 疲労 | 発作 | 眼振 | 睡眠障害 | 知的障害 | 短い指 | 肥満 | 脳梁無発生 of | 自閉症 | 視力障害 | 視床下部-下垂体軸異常 | 視神経低形成 | 視神経杯低形成 | 透明中隔欠損 | 陰茎低形成 | 食道閉鎖" ] }, { "id": "NANDO:2201233", "label_en": "Cholesterol ester storage disease", "label_ja": "コレステロールエステル蓄積症", "yomigana": "これすてろーるえすてるちくせきしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201233", "notificationNumber": "116", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Acute hepatic failure | Adrenal calcification | Adrenal insufficiency | Anemia | Arteriosclerosis | Autosomal recessive inheritance | Bone-marrow foam cells | Cirrhosis | Death in infancy | Decreased circulating HDL-C concentration | Decreased circulating alkaline phosphatase activity | Decreased total leukocyte count | Diarrhea | Disseminated intravascular coagulation | Elevated circulating LDL-C concentration | Esophageal varix | Failure to thrive | Hepatic bridging fibrosis | Hepatic failure | Hepatic fibrosis | Hepatic steatosis | Hepatomegaly | Hepatosplenomegaly | Hypercholesterolemia | Hypersplenism | Hypertriglyceridemia | Infantile onset | Jaundice | Juvenile onset | Nausea and vomiting | Periportal fibrosis | Portal hypertension | Protuberant abdomen | Pruritus | Splenomegaly | Steatorrhea | Thrombocytopenia | Vomiting" ], "symptoms_ja_list": [ "アルカリホスファターゼ低値 | 下痢 | 副腎不全 | 副腎石灰化 | 動脈硬化 | 吐気と 嘔吐 | 嘔吐 | 常染色体潜性遺伝 | 急性肝不全 | 成長障害 (成長不全) | 掻痒 | 播種性血管内凝固 | 白血球減少症 | 肝不全 | 肝架橋性線維症 | 肝硬変 | 肝線維症 | 肝脾腫 | 肝腫 | 脂肪便 | 脂肪肝 | 脾機能亢進 | 脾腫 | 腹部突出 | 血小板減少 | 貧血 | 門脈周囲線維症 | 門脈圧亢進 | 食道静脈瘤 | 骨髄泡沫細胞 | 高αリポ蛋白血症 | 高βリポタンパク血症 | 高コレステロール血症 | 高トリグリセリド血症 | 黄疸" ] }, { "id": "NANDO:2100203", "label_en": "Combined immunodeficiency", "label_ja": "複合免疫不全症", "yomigana": "ふくごうめんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100203", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201330", "label_en": "Type III biliary atresia", "label_ja": "III型胆道閉鎖症", "yomigana": "3がたたんどうへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201330", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200599", "label_en": "Succinic semialdehyde dehydrogenase deficiency", "label_ja": "コハク酸セミアルデヒド脱水素酵素欠損症", "yomigana": "こはくさんせみあるでひどだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200599", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100170", "symptoms_en_list": [ "Abnormality of eye movement | Abnormality of metabolism/homeostasis | Aggressive behavior | Anxiety | Ataxia | Atypical behavior | Autism | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Cerebellar atrophy | Childhood onset | Delayed CNS myelination | Delayed speech and language development | EEG abnormality | Generalized hypotonia | Generalized myoclonic seizure | Generalized non-motor (absence) seizure | Global developmental delay | Hallucinations | Hyperactivity | Hyperkinetic movements | Hyporeflexia | Hypotonia | Infantile onset | Intellectual disability | Juvenile onset | Motor delay | Psychosis | Seizure | Self-injurious behavior | Status epilepticus | Young adult onset" ], "symptoms_ja_list": [ "てんかん重積 | 不安 | 中枢神経髄鞘形成遅延 | 代謝/ホメオスターシスの異常 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性筋緊張低下 | 全身性間代性強直性発作 | 反射低下 | 多動 | 小脳萎縮 | 常染色体潜性遺伝 | 幻覚 | 攻撃的行動 | 欠神発作 | 発作 | 発語および言語発達遅延 | 眼運動の異常 | 知的障害 | 筋緊張低下 | 精神病 | 脳波異常 | 自傷行動 | 自閉症 | 行動異常 | 運動失調 | 運動発達遅滞" ] }, { "id": "NANDO:1200144", "label_en": "Cholesterol ester storage disease", "label_ja": "コレステロールエステル蓄積症", "yomigana": "これすてろーるえすてるちくせきしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200144", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Acute hepatic failure | Adrenal calcification | Adrenal insufficiency | Anemia | Arteriosclerosis | Autosomal recessive inheritance | Bone-marrow foam cells | Cirrhosis | Death in infancy | Decreased circulating HDL-C concentration | Decreased circulating alkaline phosphatase activity | Decreased total leukocyte count | Diarrhea | Disseminated intravascular coagulation | Elevated circulating LDL-C concentration | Esophageal varix | Failure to thrive | Hepatic bridging fibrosis | Hepatic failure | Hepatic fibrosis | Hepatic steatosis | Hepatomegaly | Hepatosplenomegaly | Hypercholesterolemia | Hypersplenism | Hypertriglyceridemia | Infantile onset | Jaundice | Juvenile onset | Nausea and vomiting | Periportal fibrosis | Portal hypertension | Protuberant abdomen | Pruritus | Splenomegaly | Steatorrhea | Thrombocytopenia | Vomiting" ], "symptoms_ja_list": [ "アルカリホスファターゼ低値 | 下痢 | 副腎不全 | 副腎石灰化 | 動脈硬化 | 吐気と 嘔吐 | 嘔吐 | 常染色体潜性遺伝 | 急性肝不全 | 成長障害 (成長不全) | 掻痒 | 播種性血管内凝固 | 白血球減少症 | 肝不全 | 肝架橋性線維症 | 肝硬変 | 肝線維症 | 肝脾腫 | 肝腫 | 脂肪便 | 脂肪肝 | 脾機能亢進 | 脾腫 | 腹部突出 | 血小板減少 | 貧血 | 門脈周囲線維症 | 門脈圧亢進 | 食道静脈瘤 | 骨髄泡沫細胞 | 高αリポ蛋白血症 | 高βリポタンパク血症 | 高コレステロール血症 | 高トリグリセリド血症 | 黄疸" ] }, { "id": "NANDO:2200757", "label_en": "Chronic granulomatous disease", "label_ja": "慢性肉芽腫症", "yomigana": "まんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200757", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Abnormality of neutrophils | Chronic pulmonary obstruction | Cutaneous photosensitivity | Eczematoid dermatitis | Fever | Gingivitis | Hepatomegaly | Hypermelanotic macule | Inflammatory abnormality of the eye | Liver abscess | Macule | Malabsorption | Mediastinal lymphadenopathy | Meningitis | Otitis media | Pyloric stenosis | Recurrent respiratory infections | Sepsis | Sinusitis | Skin ulcer | Splenomegaly | Tracheoesophageal fistula" ], "symptoms_ja_list": [ "メラニン増加性斑 | 中耳炎 | 副鼻腔炎 | 反復性呼吸器感染症 | 吸収障害 | 好中球の異常 | 幽門狭窄 | 慢性閉塞性肺疾患 | 敗血症 | 斑 | 歯肉炎 | 気管食道瘻 | 湿疹 | 発熱 | 皮膚光線過敏症 | 皮膚潰瘍 | 眼の炎症性異常 | 縦隔リンパ節腫大 | 肝腫 | 肝膿瘍 | 脾腫 | 髄膜炎" ] }, { "id": "NANDO:1200098", "label_en": "Hunter syndrome type A", "label_ja": "ハンター症候群（重症型）", "yomigana": "はんたーしょうこうぐん（じゅうしょうがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200098", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201126", "label_en": "Glutaric acidemia type 1, chronic progressive form", "label_ja": "慢性進行型グルタル酸血症1型", "yomigana": "まんせいしんこうがたぐるたるさんけっしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201126", "notificationNumber": "97", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201101", "label_en": "Spondylometaphyseal dysplasia, Kozlowski type", "label_ja": "脊椎骨幹端異形成症Kozlowski 型", "yomigana": "せきつい こっかんたん いけいせいしょうこずろふすきーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201101", "notificationNumber": "341", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal acetabulum morphology | Abnormal enchondral ossification | Abnormal foot morphology | Abnormal humeral metaphysis morphology | Abnormal ilium morphology | Abnormal rib cage morphology | Abnormality of the radioulnar joints | Abnormality of the vertebral column | Absent epiphyses of the phalanges of the hand | Autosomal dominant inheritance | Brachydactyly | Carpal bone hypoplasia | Cervical platyspondyly | Childhood onset | Cone-shaped epiphyses of the phalanges of the hand | Coronal cleft vertebrae | Coxa vara | Delayed epiphyseal ossification | Delayed ossification of carpal bones | Delayed skeletal maturation | Depressed nasal bridge | Disproportionate short-trunk short stature | Dumbbell-shaped femur | Elbow flexion contracture | Enlarged joints | Flared iliac wing | Flared metaphysis | Flat acetabular roof | Gait disturbance | Genu varum | Growth delay | Halberd-shaped pelvis | High forehead | Hypoplasia of the odontoid process | Infantile onset | Irregular acetabular roof | Irregular capital femoral epiphysis | Irregular", "rachitic-like metaphyses | Juvenile onset | Kyphoscoliosis | Kyphosis | Limb joint contracture | Lumbar hyperlordosis | Metaphyseal widening | Narrow greater sciatic notch | Pectus carinatum | Platyspondyly | Premature osteoarthritis | Radial bowing | Scoliosis | Severe short stature | Shield chest | Short distal phalanx of finger | Short femoral neck | Short greater sciatic notch | Short metatarsal | Short middle phalanx of finger | Short neck | Short toe | Short tubular bones of the hand | Spondylometaphyseal dysplasia | Squared iliac bones | Thoracic kyphosis | Vertebral wedging | Waddling gait" ], "symptoms_ja_list": [ "はと胸 | よたつき歩行 | ダンベル型大腿骨 | 上腕骨骨幹端の異常 | 不均衡性短躯低身長 | 不規則なくる病様骨幹端 | 不規則な大腿骨骨頭骨端 | 不規則な寛骨臼蓋 | 側弯 | 内反股 | 内反膝 | 冠状脊椎裂 | 四肢関節拘縮 | 四角い腸骨 | 寛骨臼の異常 | 小さい仙腸骨切痕 | 常染色体顕性遺伝 | 平坦な寛骨臼蓋 | 後側弯 | 後弯 | 成長遅滞 | 扁平脊椎 | 手の指骨骨端欠損 | 手根骨低形成 | 手根骨骨化遅延 | 指の指骨のの円錐骨端 | 早発性骨関節炎 | 楔状脊椎骨 | 橈側湾曲 | 橈尺骨関節の異常 | 歩行障害 | 歯状突起低形成 | 狭い大仙坐骨切痕 | 盾状胸 | 短い中足骨 | 短い大腿骨頸部 | 短い指中節骨 | 短い指末節骨 | 短い趾 | 短い長管骨 (手) | 短い頸部 | 短指症候群 | 肋骨胸郭の異常 | 肘屈曲拘縮 | 胸部後弯 | 脊柱の異常 | 脊椎骨幹端異形成 | 腰椎前弯 hyperlordosis | 腸骨の異常 | 腸骨翼フレア | 落ちくぼんだ鼻梁 | 足の異常 | 軟骨内骨化異常 | 重度の低身長 | 鉾槍型骨盤 | 関節の拡大 | 頚椎扁平脊椎 | 骨幹端フレア | 骨幹端拡大 | 骨格骨化遅延 | 骨端骨化遅延 | 高い額" ] }, { "id": "NANDO:2100133", "label_en": "Pseudohypoaldosteronism", "label_ja": "偽性低アルドステロン症", "yomigana": "ぎせいていあるどすてろんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100133", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200060", "label_en": "Fibrosarcoma", "label_ja": "線維肉腫", "yomigana": "せんいにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200060", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200576", "label_en": "Adrenoleukodystrophy", "label_ja": "副腎白質ジストロフィー", "yomigana": "ふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200576", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal sexual behavior | Abnormality of adrenal physiology | Abnormality of metabolism/homeostasis | Abnormality of vision | Adrenal insufficiency | Aggressive behavior | Alopecia | Aphasia | Attention deficit hyperactivity disorder | Atypical behavior | Blindness | Bowel incontinence | Bulbar palsy | Clumsiness | Cognitive impairment | Dementia | Diplopia | Disinhibition | Elevated circulating long chain fatty acid concentration | Functional motor deficit | Gait disturbance | Headache | Hearing impairment | Hemiparesis | Hyperactivity | Hyperpigmentation of the skin | Hypogonadism | Impaired vibration sensation at ankles | Impotence | Incoordination | Increased circulating ACTH level | Increased intracranial pressure | Intellectual disability | Leg muscle stiffness | Limb ataxia | Loss of speech | Lower limb muscle weakness | Mental deterioration | Neurodegeneration | Neurogenic bladder | Paralysis | Paraparesis | Polyneuropathy | Primary adrenal insufficiency | Progressive | Progressive hearing impairment | Progressive spastic paraparesis | Psychosis | Seizure | Slurred speech | Somatic sensory dysfunction | Spastic paraplegia | Specific learning disability | Truncal ataxia | Urinary bladder sphincter dysfunction | Urinary incontinence | Visual field defect | Visual impairment | Visual loss | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Dementia | X連鎖潜性遺伝 | インポテンス | ポリニューロパチー | 下肢筋硬直 | 下肢筋虚弱 | 不全対麻痺 | 不器用 | 不明瞭言語 | 不適切な性的行動 | 代謝/ホメオスターシスの異常 | 体幹失調 | 副腎不全 | 副腎生理異常 | 協調運動障害 | 原発性副腎不全 | 四肢失調 | 多動 | 大脳白質の異常 | 失語症 | 循環性ACTH 値増加 | 性腺機能低下症 | 感覚障害 | 攻撃的行動 | 機能的筋異常 | 歩行障害 | 注意力欠陥多動性疾患 | 片側不全麻痺 | 特異的学習障害 | 球麻痺 | 痙性対麻痺 | 発作 | 発語喪失 | 皮膚高色素 | 盲 | 知的障害 | 知能悪化 | 神経因性膀胱 | 神経変性 | 禿頭 | 精神病 | 脱抑制 | 膀胱括約筋機能障害 | 行動異常 | 複視 | 視力喪失 | 視力障害 | 視覚の異常 | 視野障害 | 認知障害 | 足の振動覚障害 | 進行性痙性対不全麻痺 | 進行性難聴 | 遺尿 | 遺糞症 | 長鎖脂肪酸上昇 | 難聴 | 頭痛 | 頭蓋内圧の増加 | 麻痺" ] }, { "id": "NANDO:2201529", "label_en": "Rothmund-Thomson syndrome type2", "label_ja": "ロスムンド・トムソン症候群 type2", "yomigana": "ろすむんど・とむそんしょうこうぐん たいぷ2", "url": "http://nanbyodata.jp/ontology/NANDO_2201529", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal dental enamel morphology | Abnormal trabecular bone morphology | Abnormal ulnar metaphysis morphology | Abnormality of immune system physiology | Abnormality of the dentition | Abnormality of the radial head | Absent eyebrow | Absent eyelashes | Agenesis of permanent teeth | Alopecia | Alopecia totalis | Anemia | Annular pancreas | Anteriorly placed anus | Aplasia/Hypoplasia of the eyebrow | Aplasia/hypoplasia involving bones of the upper limbs | Aplastic anemia | Autosomal recessive inheritance | Basal cell carcinoma | Calcinosis | Carious teeth | Cataract | Cleft palate | Congenital hip dislocation | Cryptorchidism | Cutaneous photosensitivity | Decreased total neutrophil count | Delayed eruption of teeth | Delayed skeletal maturation | Depressed nasal bridge | Dermal atrophy | Developmental cataract | Diarrhea | Epicanthus | Erythema | Facial edema | Facial erythema | Finger symphalangism | Forearm reduction defects | Frontal bossing | Functional abnormality of the gastrointestinal tract | Genu varum | Glaucoma | Growth delay | High palate | Hyperpigmentation of the skin | Hypertelorism | Hypogonadism | Hypopigmentation of the skin | Hypoplasia of teeth | Intellectual disability | Joint dislocation | Juvenile cataract | Kyphoscoliosis | Leukemia | Long nose | Lymphoma | Mandibular prognathia | Melanoma | Metaphyseal sclerosis | Microcornea | Microdontia | Micrognathia | Microphthalmia | Multiple skeletal anomalies | Myelodysplasia | Nail dysplasia | Nail dystrophy | Neoplasm of the skin | Osteopenia | Osteoporosis | Osteosarcoma | Overfolded helix | Patellar aplasia | Patellar hypoplasia | Pathologic fracture | Plantar hyperkeratosis | Poikiloderma | Porokeratosis | Premature graying of hair | Prominent antihelix | Short foot | Short metacarpal | Short nose | Short palm | Short phalanx of finger | Short stature | Short thumb | Slender nose | Small for gestational age | Small hand | Sparse eyelashes | Sparse hair | Sparse or absent eyelashes | Sparse scalp hair | Squamous cell carcinoma | Strabismus | Supernumerary tooth | Synostosis involving bones of the upper limbs | Talipes equinovarus | Telangiectasia | Tooth agenesis | Underfolded helix | Vomiting | Zonular cataract" ], "symptoms_ja_list": [ "リンパ腫 | 上肢骨無形成/低形成 | 上肢骨癒合症 | 下痢 | 下顎突出 | 両眼隔離 | 低身長 | 停留精巣 | 先天性白内障 | 先天性股関節脱臼 | 免疫系生理の異常 | 全禿頭 | 内反尖足 | 内反膝 | 内眼角贅皮 | 再生不良性貧血 | 前方位肛門 | 前腕減数奇形 | 前頭突出", "額突出 | 口蓋裂 | 嘔吐 | 在胎月齢より小さい児 | 基底細胞癌 | 多形皮膚萎縮症 (ポイキロデルマ) | 多発性骨格奇形 | 好中球減少症 | 小さい手 | 小歯 | 小眼球 | 小角膜 | 小顎 | 尺骨骨幹端の異常 | 層間白内障 | 巻き込み不足の耳輪 | 常染色体潜性遺伝 | 後側弯 | 性腺機能低下症 | 成長遅滞 | 指骨癒合症 | 斜視 | 早発性毛髪白髪 | 橈骨頭の異常 | 歯の異常 | 歯エナメル質異常 | 歯低形成 | 歯数の減少 number of teeth | 歯数増加 | 歯萠出遅延 | 毛細血管拡張 | 永久歯無発生 | 汗孔角化症 | 海綿骨形態異常 | 爪ジストロフィー | 爪異形成 | 環状膵 | 異常な皮膚水泡 | 疎な/欠損した睫毛 | 疎な毛髪 | 疎な睫毛 | 疎な頭髪 | 病的骨折 | 白内障 | 白血病 | 皮膚低色素 | 皮膚光線過敏症 | 皮膚新生物 | 皮膚萎縮 | 皮膚高色素 | 目立つ対耳輪 | 眉毛の無形成/低形成 | 眉毛欠損 | 睫毛欠損 | 知的障害 | 短い中手骨 | 短い手掌 | 短い指骨 | 短い母指 | 短い足 | 短い鼻 | 石灰症 | 禿頭 | 紅斑 | 細い鼻 | 緑内障 | 耳輪の過剰な巻き込み | 胃腸管機能異常 | 膝蓋骨低形成 | 膝蓋骨無形成無形成 | 若年性白内障 | 落ちくぼんだ鼻梁 | 貧血 | 足底過角化症 | 長い鼻 | 関節脱臼 | 顔面浮腫 | 顔面紅斑 | 骨幹端硬化症 | 骨格骨化遅延 | 骨減少症 | 骨粗鬆症 | 骨肉腫 | 骨髄異形成 | 高口蓋 | 黒色腫 | 齲歯" ] }, { "id": "NANDO:1200162", "label_en": "Nephropathic cystinosis", "label_ja": "腎型シスチン症", "yomigana": "じんがたしすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200162", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal circulating electrolyte concentration | Abnormal circulating vitamin D concentration | Abnormal cornea morphology | Abnormal tubulointerstitial morphology | Abnormality of thyroid physiology | Acidosis | Aminoaciduria | Autosomal recessive inheritance | Blindness | Cerebral atrophy | Cerebral calcification | Cognitive impairment | Constipation | Corneal crystals | Decreased circulating carnitine concentration | Dehydration | Delayed puberty | Delayed skeletal maturation | Diabetes mellitus | Dysphagia | Elevated intracellular cystine | Episodic metabolic acidosis | Exocrine pancreatic insufficiency | Failure to thrive | Failure to thrive in infancy | Frontal bossing | Generalized aminoaciduria | Genu valgum | Global developmental delay | Glycosuria | Growth delay | Hematuria | Hepatomegaly | Hyperchloremic metabolic acidosis | Hyperphosphaturia | Hypohidrosis | Hypokalemia | Hypomagnesemia | Hyponatremia | Hypophosphatemia | Hypophosphatemic rickets | Hypopigmentation of hair | Hypopigmentation of the skin | Infantile onset | Intellectual disability | Kidney stone | Low-molecular-weight proteinuria | Male hypogonadism | Male infertility | Medullary nephrocalcinosis | Metabolic acidosis | Metaphyseal widening | Microscopic hematuria | Myopathy | Photophobia | Pigmentary retinopathy | Polydipsia | Polyuria | Primary hypothyroidism | Progressive neurologic deterioration | Proteinuria | Rachitic rosary | Recurrent corneal erosions | Reduced visual acuity | Renal Fanconi syndrome | Renal insufficiency | Renal tubular dysfunction | Retinal pigment epithelial mottling | Retinopathy | Rickets | Short stature | Skeletal muscle atrophy | Splenomegaly | Stage 5 chronic kidney disease | Visual impairment | Vomiting | Weight loss" ], "symptoms_ja_list": [ "くる病 | くる病性念珠 | アシドーシス | アミノ酸尿 | ステージ5慢性腎疾患 | ビタミンD代謝の異常 | ミオパチー | 中心視力減少 | 乳児期の成長障害 (成長不全) | 代謝性アシドーシス | 代謝性アシドーシスエピソード | 低カリウム血症 | 低ナトリウム血症 | 低マグネシウム血症 | 低リン血症 | 低リン血症性くる病 | 低分子量蛋白尿 | 低身長 | 体重喪失 | 便秘 | 全般性発達遅滞 | 前頭突出", "額突出 | 原発性甲状腺機能低下症 | 反復性角膜びらん | 嘔吐 | 嚥下障害 | 塩胡椒網膜症 | 外分泌性膵不全 | 外反膝 | 多尿 | 多飲 | 大脳白質の異常 | 大脳石灰化 | 大脳萎縮 | 尿糖 | 尿細管間質異常 | 常染色体潜性遺伝 | 思春期遅発 | 成長遅滞 | 成長障害 (成長不全) | 毛髪低色素 | 汎アミノ酸尿 | 減汗症 | 甲状腺生理異常 | 男性不妊 | 男性性腺機能低下症 | 皮膚低色素 | 盲 | 知的障害 | 筋萎縮 | 糖尿病 | 細胞内シスチン上昇 | 網膜症 | 羞明 | 肝腫 | 脱水 | 脾腫 | 腎不全 | 腎尿細管機能障害 | 腎性 Fanconi 症候群 | 腎結石 | 色素性網膜症 | 蛋白尿 | 血尿 | 血漿カルニチン減少 | 視力障害 | 角膜の異常 | 角膜結晶 | 認知障害 | 進行性神経学的悪化 | 鉄ホメオスターシスの異常 | 顕微血尿 | 骨幹端拡大 | 骨格骨化遅延 | 髄質腎石灰化症 | 高クロール血症性代謝性アシドーシス | 高リン尿" ] }, { "id": "NANDO:1200198", "label_en": "Subacute progressive sclerosing panencephalitis", "label_ja": "亜急性進行型硬化性全脳炎", "yomigana": "あきゅうせいしんこうがたこうかせいぜんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200198", "notificationNumber": "24", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal brain choline/creatine ratio by MRS | Abnormality of extrapyramidal motor function | Akinetic mutism | Ataxia | Atypical behavior | Autosomal recessive inheritance | Brain atrophy | CSF pleocytosis | Chorioretinitis | Delusion | Dementia | Depression | Dyskinesia | Dystonia | EEG with periodic complexes | Gait disturbance | Hallucinations | Infectious encephalitis | Irritability | Lethargy | Loss of speech | Mental deterioration | Myoclonus | Papilledema | Reduced brain N-acetyl aspartate level by MRS | Retinal hemorrhage | Seizure | Sleep disturbance | Spasticity | Ventriculomegaly | Visual loss" ], "symptoms_ja_list": [ "Dementia | MRSによる異常な脳コリン/クレアチン比 | MRSによる脳 N-acetyl aspartate 値現象 | うつ | ジスキネジア | ジストニア | ミオクローヌス | 乳頭浮腫 | 周期性複合を伴う脳波 | 妄想 | 常染色体潜性遺伝 | 幻覚 | 歩行障害 | 無動性無言症 | 無気力 | 異常な自律神経生理 | 痙性 | 発作 | 発語喪失 | 睡眠障害 | 知能悪化 | 網膜出血 | 脈絡膜網膜炎 | 脳室拡大 | 脳炎 | 脳萎縮 | 行動異常 | 被刺激性 | 視力喪失 | 運動失調 | 錐体外路運動機能の異常 | 髄液細胞増症" ] }, { "id": "NANDO:1200373", "label_en": "Idiopathic osteonecrosis of femoral head", "label_ja": "特発性大腿骨頭壊死症", "yomigana": "とくはつせいだいたいこつとうえししょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200373", "notificationNumber": "71", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal femoral neck/head morphology | Flattened femoral head | Hip osteoarthritis | Limited hip movement | Lower limb asymmetry | Short stepped shuffling gait" ], "symptoms_ja_list": [ "下肢非対称 | 大腿骨頸部および頭部領域の異常 | 平坦な大腿骨頭 | 短い歩幅のひきずり歩行 | 股関節運動制限 | 股関節骨関節炎" ] }, { "id": "NANDO:1200470", "label_en": "Systemic juvenile idiopathic arthritis", "label_ja": "全身型若年性特発性関節炎", "yomigana": "ぜんしんがたじゃくねんせいとくはつせいかんせつえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200470", "notificationNumber": "107", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Anterior uveitis | Arthralgia | Arthritis | Autoimmunity | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Elevated pulmonary artery pressure | Fever | Glomerulonephritis | Growth delay | Hepatomegaly | Increased circulating ferritin concentration | Joint swelling | Juvenile rheumatoid arthritis | Lymphadenopathy | Osteopenia | Pericarditis | Pleural effusion | Skin rash | Splenomegaly" ], "symptoms_ja_list": [ "CRP 上昇 | リンパ節腫大 | 前部ブドウ膜炎 | 心外膜炎 | 成長遅滞 | 発熱 | 皮膚発疹 | 糸球体腎炎 | 肝腫 | 肺動脈圧上昇 | 胸膜滲出液 | 脾腫 | 腹痛 | 自己免疫 | 若年性関節リウマチ | 血清フェリチン増加 | 赤沈値上昇 | 関節炎 | 関節痛 | 関節腫脹 | 骨減少症" ] }, { "id": "NANDO:1200438", "label_en": "Idiopathic portal hypertension", "label_ja": "特発性門脈圧亢進症", "yomigana": "とくはつせいもんみゃくあつこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200438", "notificationNumber": "92", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200038", "label_en": "Erdheim-Chester disease", "label_ja": "エルドハイム・チェスター病", "yomigana": "えるどはいむ・ちぇすたーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200038", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100005", "symptoms_en_list": [ "Abdominal pain | Abnormal aortic valve morphology | Abnormal cerebellum morphology | Abnormal epiphysis morphology | Abnormal metaphysis morphology | Abnormal pericardium morphology | Abnormal pulmonary interstitial morphology | Abnormality of immune system physiology | Anemia | Ataxia | Avascular necrosis | Bone pain | Congestive heart failure | Cough | Diabetes insipidus | Dysarthria | Dyspnea | Dysuria | Fatigue | Fever | Hydronephrosis | Hyperhidrosis | Hyperreflexia | Hypogonadotropic hypogonadism | Increased bone mineral density | Joint swelling | Nausea and vomiting | Nystagmus | Osteolysis | Osteomyelitis | Pleural effusion | Polydipsia | Proptosis | Ptosis | Pulmonary fibrosis | Renal insufficiency | Retroperitoneal fibrosis | Skin rash | Visual impairment | Weight loss | Xanthelasma" ], "symptoms_ja_list": [ "うっ血性心不全 | 低ゴナドトロピン性性腺機能低下症 | 体重喪失 | 免疫系生理の異常 | 反射亢進 | 吐気と 嘔吐 | 呼吸困難 | 外層 | 多汗 | 多飲 | 大動脈弁の異常 | 小脳の異常 | 尿崩症 | 後腹膜線維症 | 心外膜の異常 | 排尿障害 | 構音障害 | 水腎症 | 無菌性壊死 | 疲労 | 発熱 | 皮膚発疹 | 眼振 | 眼球突出 | 眼瞼下垂 | 肺線維症 | 胸膜滲出液 | 腎不全 | 腹痛 | 視力障害 | 貧血 | 運動失調 | 間質性肺疾患 | 関節腫脹 | 骨ミネラル濃度の増加 | 骨幹端の異常 | 骨痛 | 骨端の異常 | 骨融解 | 骨髄炎 | 黄色板症" ] }, { "id": "NANDO:1200800", "label_en": "Glutaric acidemia type 1", "label_ja": "グルタル酸血症1型", "yomigana": "ぐるたるさんけっしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200800", "notificationNumber": "249", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal basal ganglia morphology | Abnormal caudate nucleus morphology | Abnormal cerebral white matter morphology | Abnormal circulating enzyme concentration or activity | Abnormality of the respiratory system | Absent speech | Acute encephalopathy | Ataxia | Athetosis | Autosomal recessive inheritance | Cerebral atrophy | Childhood onset | Chorea | Choreoathetosis | Chronic kidney disease | Cognitive impairment | Communicating hydrocephalus | Delayed speech and language development | Dementia | Developmental regression | Dysarthria | Dysphagia | Dystonia | Elevated circulating glutaric acid concentration | Encephalopathy | Enlarged sylvian cistern | Exercise intolerance | Failure to thrive | Fasting hypoglycemia | Feeding difficulties | Generalized hypotonia | Global developmental delay | Glutaric aciduria | Headache | Hepatomegaly | Hydrocephalus | Hypoglycemia | Hypotonia | Inability to walk | Incoordination | Infantile encephalopathy | Infantile onset | Infantile spasms | Irritability | Joint dislocation | Juvenile onset | Ketonuria | Ketosis | Lateral ventricle dilatation | Limb dystonia | Loss of consciousness | Macrocephaly | Metabolic acidosis | Neonatal onset | Open operculum | Opisthotonus | Pallidal degeneration | Peripheral neuropathy | Progressive macrocephaly | Retinal hemorrhage | Rigidity | Seizure | Severe muscular hypotonia | Spastic diplegia | Subdural hemorrhage | Subependymal nodules | Symmetrical progressive peripheral demyelination | T2 hypointense basal ganglia | Tremor | Ventriculomegaly | Vertigo | Widened subarachnoid space" ], "symptoms_ja_list": [ "Dementia | T2 低輝度基底核 | アテトーゼ | グルタル酸尿 | グルタル酸酸血症 | ケトン尿 | ケトン症 | シルヴィウス槽拡大 | ジストニア | 上衣下結節 | 乳児スパスム | 乳児脳症 | 交通性水頭症 | 代謝性アシドーシス | 低血糖 | 側脳室拡大 | 全般性発達遅滞 | 全身性筋緊張低下 | 協調運動障害 | 呼吸器の異常 | 嚥下障害 | 四肢ジストニア | 基底核の異常 | 大脳白質の異常 | 大脳萎縮 | 大頭 | 対称性進行性末梢神経脱髄 | 尾状核の異常 | 常染色体潜性遺伝 | 幅広いクモ膜下腔 | 後弓反張 | 急性脳症 | 意識喪失 | 慢性腎疾患 | 成長障害 (成長不全) | 振戦 | 末梢神経ニューロパチー | 構音障害 | 歩行不能 | 水頭症 | 淡蒼球変性 | 痙性両麻痺 | 発作 | 発語および言語発達遅延 | 発語欠損 | 発達退行 | 眩暈 | 硬直 | 硬膜下出血 | 空腹時低血糖 | 筋緊張低下 | 網膜出血 | 肝腫 | 脳室拡大 | 脳症 | 舞踏病 | 舞踏病アテトーゼ | 被刺激性 | 認知障害 | 進行性大頭 | 運動不耐症 | 運動失調 | 重度筋緊張低下 | 開放性弁蓋 | 関節脱臼 | 頭痛 | 食餌摂取障害 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2200023", "label_en": "Precursor T lymphoblastic lymphoma", "label_ja": "Tリンパ芽球性リンパ腫", "yomigana": "てぃーりんぱがきゅうせいりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200023", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200535", "label_en": "Classic pantothenate kinase-associated neurodegeneration", "label_ja": "パントテン酸キナーゼ変異に伴う神経変性症（古典型）", "yomigana": "ぱんとてんさんきなーぜへんいにともなうしんけいへんせいしょう（こてんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200535", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal posturing | Abnormality of the tongue | Aspiration pneumonia | Attention deficit hyperactivity disorder | Blindness | Cognitive impairment | Cough | Dysarthria | Dysphagia | Eye of the tiger anomaly of globus pallidus | Frequent falls | Gait disturbance | Generalized dystonia | Global developmental delay | Hyperreflexia | Inability to walk | Increased susceptibility to fractures | Iron accumulation in brain | Mask-like facies | Muscle stiffness | Opisthotonus | Optic disc pallor | Pigmentary retinopathy | Rod-cone dystrophy | Seizure | Spasticity | Weight loss" ], "symptoms_ja_list": [ "仮面様顔貌 | 体重喪失 | 全般性発達遅滞 | 全身性ジストニア | 反射亢進 | 嚥下障害 | 外層 | 後弓反張 | 易骨折性の増加 | 構音障害 | 歩行不能 | 歩行障害 | 注意力欠陥多動性疾患 | 淡蒼球の虎の眼奇形 | 異常な姿勢 | 痙性 | 発作 | 盲 | 筋硬直 | 脳内鉄沈着 | 舌の異常 | 色素性網膜炎 | 色素性網膜症 | 視神経杯蒼白 | 認知障害 | 誤嚥性肺炎 | 頻回の転倒" ] }, { "id": "NANDO:1200043", "label_en": "Dentatorubropallidoluysian atrophy", "label_ja": "歯状核赤核淡蒼球ルイ体萎縮症", "yomigana": "しじょうかくせきかくたんそうきゅうるいたいいしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200043", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Action tremor | Ataxia | Atrophy of the dentate nucleus | Autosomal dominant inheritance | Blepharospasm | Chorea | Choreoathetosis | Cognitive impairment | Dementia | Dysarthria | Dysdiadochokinesis | Dysmetria | Dyssynergia | Dystonia | Gait ataxia | Genetic anticipation | Hyporeflexia | Impaired proprioception | Intellectual disability | Involuntary movements | Juvenile onset | Late onset | Limb ataxia | Memory impairment | Middle age onset | Myoclonus | Nystagmus | Ophthalmoparesis | Optic neuropathy | Oromandibular dystonia | Parkinsonism | Postural instability | Progressive cerebellar ataxia | Saccadic smooth pursuit interruptions | Seizure | Truncal ataxia | Young adult onset" ], "symptoms_ja_list": [ "Dementia | サッカード性滑らかな追視 | ジストニア | パーキンソン症候群 | ミオクローヌス | 不随意運動 | 体幹失調 | 作動振戦 | 共同運動障害 | 反射低下 | 口下顎ジストニア | 四肢失調 | 固有覚障害 | 姿勢不安定 | 常染色体顕性遺伝 | 拮抗運動反復不全 | 構音障害 | 歩行失調 | 歯状核萎縮 | 測定障害 | 発作 | 眼振 | 眼瞼スパスム | 眼筋不全麻痺 | 知的障害 | 舞踏病 | 舞踏病アテトーゼ | 表現促進現象 | 視神経ニューロパチー | 記憶障害 | 認知障害 | 進行性小脳失調 | 運動失調" ] }, { "id": "NANDO:2100147", "label_en": "Lipodystrophy", "label_ja": "脂肪萎縮症", "yomigana": "しぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100147", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200460", "label_en": "Diabetes mellitus type 1", "label_ja": "1型糖尿病", "yomigana": "1がたとうにょうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200460", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [ "Autoimmunity | Diabetes mellitus | Hyperglycemia | Ketoacidosis | Polydipsia | Polyphagia | Polyuria" ], "symptoms_ja_list": [ "ケトアシドーシス | 多尿 | 多飲 | 糖尿病 | 自己免疫 | 過食症 | 高血糖" ] }, { "id": "NANDO:2200148", "label_en": "Chronic renal failure due to renal tumour", "label_ja": "慢性腎不全（腎腫瘍によるものに限る。）", "yomigana": "まんせいじんふぜん（じんしゅようによるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200148", "notificationNumber": "49", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100023", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100188", "label_en": "Thrombocytopenic purpura", "label_ja": "血小板減少性紫斑病", "yomigana": "けっしょうばんげんしょうせいしはんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100188", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100062", "label_en": "Chronic myocarditis", "label_ja": "慢性心筋炎", "yomigana": "まんせいしんきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100062", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201362", "label_en": "Astley-Kendall dysplasia", "label_ja": "Astley-Kendall骨異形成症", "yomigana": "あすとれーけんたるこついけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201362", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormality of skull ossification | Disproportionate short-limb short stature | Epiphyseal stippling | Micromelia" ], "symptoms_ja_list": [ "不均衡型短肢低身長 | 小肢症 | 頭蓋骨骨化の異常 | 骨端点状石灰化" ] }, { "id": "NANDO:2200227", "label_en": "Ventricular fibrillation", "label_ja": "心室細動", "yomigana": "しんしつさいどう", "url": "http://nanbyodata.jp/ontology/NANDO_2200227", "notificationNumber": "30", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100052", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200022", "label_en": "Precursor B lymphoblastic lymphoma", "label_ja": "Bリンパ芽球性リンパ腫", "yomigana": "びーりんぱがきゅうせいりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200022", "notificationNumber": "88", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200890", "label_en": "Diamond-Blackfan anemia", "label_ja": "ダイアモンド・ブラックファン貧血", "yomigana": "だいあもんど・ぶらっくふぁんひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200890", "notificationNumber": "284", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal heart morphology | Abnormality of the genitourinary system | Abnormality of the head | Abnormality of the thenar eminence | Abnormality of the upper limb | Absent thumb | Acute myeloid leukemia | Atrial septal defect | Cleft soft palate | Coarctation of aorta | Decreased total leukocyte count | Decreased total neutrophil count | Depressed nasal bridge | Developmental cataract | Developmental glaucoma | Epicanthus | Erythroid hypoplasia | Growth delay | High palate | Horseshoe kidney | Hypertelorism | Hypospadias | Increased mean corpuscular volume | Lethargy | Low anterior hairline | Low-set ears | Macrocytic dyserythropoietic anemia | Malignant genitourinary tract tumor | Microcephaly | Micrognathia | Microtia | Myelodysplasia | Neurodevelopmental delay | Nonimmune hydrops fetalis | Normochromic anemia | Osteosarcoma | Pallor | Partial duplication of thumb phalanx | Persistence of hemoglobin F | Ptosis | Pure red cell aplasia | Renal agenesis | Reticulocytopenia | Short neck | Short stature | Short thumb | Small for gestational age | Sprengel anomaly | Strabismus | Thrombocytopenia | Thrombocytosis | Triphalangeal thumb | Ventricular septal defect | Webbed neck | Wide nasal bridge" ], "symptoms_ja_list": [ "Sprengel 奇形 | ヘモグロビン F 持続 | 三指節母指 | 上肢の異常 | 両眼隔離 | 低い前部毛髪線 | 低身長 | 先天性白内障 | 先天性緑内障 | 内眼角贅皮 | 在胎月齢より小さい児 | 大動脈縮窄 | 大球性異常造血性貧血 | 好中球減少症 | 小耳 | 小頭 | 小顎 | 尿道下裂 | 巨大赤血球症 | 幅広い鼻梁 | 心室中隔欠損 | 心形態の異常 | 心房中隔欠損 | 急性骨髄性白血病 | 性色素性貧血 | 悪性泌尿生殖器腫瘍 | 成長遅滞 | 斜視 | 母指指骨の部分重複 | 母指欠損 | 母指球の異常 | 泌尿生殖器異常 | 無気力 | 白血球減少症 | 眼瞼下垂 | 短い母指 | 短い頸部 | 神経発生遅延 | 純粋赤血球無形成 | 網状赤血球減少症 | 翼状頚 | 耳介低位 | 腎無発生 | 落ちくぼんだ鼻梁 | 蒼白 | 血小板増多症 | 血小板減少 | 赤芽球系低形成 | 軟口蓋裂 | 非免疫性胎児水腫 | 頭部の異常 | 馬蹄腎 | 骨肉腫 | 骨髄異形成 | 高口蓋" ] }, { "id": "NANDO:2100304", "label_en": "Localized scleroderma/morphea", "label_ja": "限局性強皮症", "yomigana": "げんきょくせいきょうひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100304", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200645", "label_en": "Immune thrombocytopenic purpura", "label_ja": "免疫性血小板減少性紫斑病", "yomigana": "めんえきせいけっしょうばんげんしょうせいしはんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200645", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100188", "symptoms_en_list": [ "Abnormal bleeding | Arterial thrombosis | Autosomal dominant inheritance | Bruising susceptibility | Cerebral hemorrhage | Epistaxis | Gastrointestinal hemorrhage | Gingival bleeding | Hematuria | Hemorrhage of the eye | Petechiae | Platelet antibody positive | Purpura | Thrombocytopenia" ], "symptoms_ja_list": [ "出血傾向 | 動脈血栓症 | 大脳出血 | 常染色体顕性遺伝 | 歯肉出血 | 点状出血 | 異常な出血 | 眼出血 | 紫斑 | 胃腸出血 | 血小板抗体陽性 | 血小板減少 | 血尿 | 鼻出血" ] }, { "id": "NANDO:1200669", "label_en": "Antley-Bixler syndrome", "label_ja": "アントレー・ビクスラー症候群", "yomigana": "あんとれー・びくすらーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200669", "notificationNumber": "184", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal renal morphology | Abnormal rib morphology | Anteverted nares | Arachnodactyly | Brachycephaly | Camptodactyly of finger | Choanal atresia | Cleft palate | Craniosynostosis | Delayed cranial suture closure | Downslanted palpebral fissures | Elbow ankylosis | Femoral bowing | Frontal bossing | Hypertelorism | Hypoplasia of the zygomatic bone | Joint stiffness | Long philtrum | Narrow chest | Narrow mouth | Narrow pelvis bone | Posteriorly rotated ears | Proptosis | Recurrent fractures | Short nose | Strabismus | Talipes | Turricephaly | Underdeveloped supraorbital ridges" ], "symptoms_ja_list": [ "くも指 | 上向きの鼻孔 | 両眼隔離 | 前頭突出", "額突出 | 反復性骨折 | 口蓋裂 | 塔状頭 | 大腿骨湾曲 | 尖足 | 屈指 | 後鼻孔閉鎖 | 循環器系の形態異常 | 斜視 | 狭い口 | 狭い胸郭 | 狭い骨盤 | 眼球突出 | 眼瞼裂斜下 | 眼窩上縁未発達 | 短い鼻 | 短頭 | 耳介後方回転 | 肋骨の異常 | 肘強直 | 腎形態異常 | 長い人中 | 関節拘縮 | 頬骨未発達 | 頭蓋合骨症 | 頭蓋骨縫合閉鎖遅延" ] }, { "id": "NANDO:1200045", "label_en": "Spinocerebellar ataxia type 1", "label_ja": "脊髄小脳失調症1型", "yomigana": "せきずいしょうのうしっちょうしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200045", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal brainstem morphology | Abnormal flash visual evoked potentials | Abnormality of extrapyramidal motor function | Abnormality of eye movement | Abnormality of somatosensory evoked potentials | Adult onset | Areflexia | Atrophy/Degeneration affecting the brainstem | Autosomal dominant inheritance | Babinski sign | Bradykinesia | Bulbar palsy | Bulbar signs | Cerebellar atrophy | Chorea | Cognitive impairment | Decreased amplitude of sensory action potentials | Decreased motor nerve conduction velocity | Decreased sensory nerve conduction velocity | Dilated fourth ventricle | Distal amyotrophy | Distal muscle weakness | Dorsal column degeneration | Dysarthria | Dysdiadochokinesis | Dysmetria | Dysmetric saccades | Dysphagia | Dystonia | Fasciculations | Gait disturbance | Gait imbalance | Gaze-evoked nystagmus | Generalized hypotonia | Genetic anticipation with paternal anticipation bias | Hyperactive deep tendon reflexes | Hypermetric saccades | Hyperreflexia | Hyporeflexia | Hypotonia | Impaired distal tactile sensation | Impaired horizontal smooth pursuit | Impaired pain sensation | Impaired proprioception | Impaired vibratory sensation | Limb ataxia | Loss of Purkinje cells in the cerebellar vermis | Memory impairment | Muscle spasm | Muscle weakness | Nystagmus | Olivopontocerebellar atrophy | Ophthalmoparesis | Optic atrophy | Optic disc pallor | Paresthesia | Peripheral neuropathy | Postural tremor | Progressive cerebellar ataxia | Proximal muscle weakness | Respiratory failure | Scanning speech | Skeletal muscle atrophy | Slow saccadic eye movements | Slurred speech | Spasticity | Spinocerebellar atrophy | Spinocerebellar tract degeneration | Supranuclear ophthalmoplegia | Truncal ataxia | Urinary bladder sphincter dysfunction" ], "symptoms_ja_list": [ "Babinski サイン | オリーブ核橋小脳萎縮 | ジストニア | フラッシュ視覚誘発電位の異常 | 不均衡歩行 | 不明瞭言語 | 体幹失調 | 全身性筋緊張低下 | 反射亢進 | 反射低下 | 呼吸不全 | 嚥下障害 | 四肢失調 | 固有覚障害 | 姿勢性振戦 | 小脳萎縮 | 小脳虫部Purkinje細胞喪失 | 常染色体顕性遺伝 | 後柱変性 | 感覚異常 | 拮抗運動反復不全 | 振動覚障害 | 断綴言 | 末梢神経ニューロパチー | 核上性眼筋麻痺 | 構音障害 | 歩行障害 | 水平性の滑らかな追視の障害 | 注視誘発性眼振 | 深部腱反射亢進 | 測定障害 | 測定障害性断続性眼球運動 | 無反射 | 父由来表現促進バイアスを受けている表現促進現象 | 球症状 | 球麻痺 | 痙性 | 痛覚障害 | 眼振 | 眼筋不全麻痺 | 眼運動の異常 | 知覚神経伝導速度の振幅減少 | 知覚神経活動電位の振幅減少 | 石器対小脳萎縮 | 第4脳室拡大 | 筋けいれん | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 線維束性収縮 | 緩徐なサッカード性眼球運動 | 脊髄小脳路変性 | 脳幹形態の異常 | 脳幹萎縮/変性 | 膀胱括約筋機能障害 | 舞踏病 | 視神経杯蒼白 | 視神経萎縮 | 記憶障害 | 認知障害 | 身体感覚誘発電位の異常 | 近位筋虚弱 | 進行性小脳失調 | 運動神経活動電位の振幅減少 | 運動緩徐 | 遠位筋萎縮 | 遠位筋虚弱 | 遠位触覚障害 | 遠視性サッケード (断続性運動) | 錐体外路運動機能の異常" ] }, { "id": "NANDO:2200710", "label_en": "RIDDLE syndrome", "label_ja": "RIDDLE症候群", "yomigana": "りどるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200710", "notificationNumber": "56", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [ "Abdominal pain | Abnormal cerebral white matter morphology | Abnormal facial shape | Abnormal pulmonary interstitial morphology | Arthritis | Ataxia | Autosomal recessive inheritance | Bronchitis | Chromosomal breakage induced by ionizing radiation | Chronic sinusitis | Clumsiness | Conjunctival telangiectasia | Decreased circulating IgA concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Demyelinating peripheral neuropathy | Diarrhea | Dry skin | Elevated circulating alpha-fetoprotein concentration | Emotional lability | Enuresis nocturna | Erythema | Gait disturbance | Generalized lymphadenopathy | Global developmental delay | Headache | Immunodeficiency | Increased sensitivity to ionizing radiation | Microcephaly | Mild global developmental delay | Neonatal asphyxia | Otitis media | Pneumonia | Poor hand-eye coordination | Pulmonary fibrosis | Recurrent fever | Recurrent pneumonia | Recurrent sinusitis | Recurrent viral infections | Respiratory failure | Restrictive ventilatory defect | Short stature | Specific learning disability | Telangiectasia | Weight loss" ], "symptoms_ja_list": [ "IgA欠乏症 | IgG欠乏症 | IgM欠乏症 | α-フェトプロテイン上昇 | 下痢 | 不器用 | 中耳炎 | 乾いた皮膚 | 低身長 | 体重喪失 | 免疫不全 | 全般性発達遅滞 | 全身性リンパ節腫大 | 反復性ウイルス感染症 | 反復性副鼻腔炎 | 反復性肺炎 | 呼吸不全 | 夜尿 | 大脳白質の異常 | 小頭 | 常染色体潜性遺伝 | 情動不安定 | 慢性副鼻腔炎 | 手-眼協調運動不全 | 拘束性肺疾患 | 新生児仮死 | 歩行障害 | 毛細血管拡張 | 気管支炎 | 特異的学習障害 | 異常な顔の形 | 発熱エピソード | 紅斑 | 結膜毛細血管拡張 | 肺炎 | 肺線維症 | 脱髄性末梢運動神経ニューロパチー | 腹痛 | 軽度の全般性発達遅滞 | 運動失調 | 間質性肺疾患 | 関節炎 | 電離放射線により誘発される染色体断裂 | 電離放射線への感受性の増加 | 頭痛" ] }, { "id": "NANDO:1200786", "label_en": "Tetrahydrobiopterin deficiency", "label_ja": "ビオプテリン代謝異常症", "yomigana": "びおぷてりんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200786", "notificationNumber": "240", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Atypical behavior | Basal ganglia calcification | Cognitive impairment | Decreased CSF homovanillic acid concentration | Delayed speech and language development | Dystonia | Excessive salivation | Hyperphenylalaninemia | Hypertonia | Hypomagnesemia | Hypotonia | Maturity-onset diabetes of the young | Microcephaly | Neurodevelopmental delay | Oculogyric crisis | Parkinsonism | Poor head control | Seizure | Sleep disturbance" ], "symptoms_ja_list": [ "ジストニア | パーキンソン症候群 | 低マグネシウム血症 | 基底核石灰化 | 小頭 | 注視クリーゼ | 発作 | 発語および言語発達遅延 | 睡眠障害 | 神経発生遅延 | 筋緊張亢進 | 筋緊張低下 | 若年発症成人型糖尿病 | 行動異常 | 誇張された唾液分泌 | 認知障害 | 頸定不全 | 髄液ホモバニリン酸(HVA)減少 | 高フェニールアラニン血症" ] }, { "id": "NANDO:2200990", "label_en": "Superficial epidermolytic ichthyosis", "label_ja": "表在性表皮融解性魚鱗癬", "yomigana": "ひょうざいせいひょうひゆうかいせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_2200990", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [ "Abnormal blistering of the skin | Acantholysis | Autosomal dominant inheritance | Congenital bullous ichthyosiform erythroderma | Edema | Erythema | Ichthyosis | Palmoplantar keratoderma | Thin skin" ], "symptoms_ja_list": [ "先天性水泡性魚鱗癬型紅皮症 | 常染色体顕性遺伝 | 掌蹠角皮症 | 有棘細胞解離 | 浮腫 | 異常な皮膚水泡 | 紅斑 | 薄い皮膚 | 魚鱗癬" ] }, { "id": "NANDO:1200073", "label_en": "GM2 gangliosidosis AB variant", "label_ja": "AB型GM2ガングリオシドーシス", "yomigana": "えーびーがたじーえむ2がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200073", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal fear-induced behavior | Abnormal involuntary eye movements | Abnormal pyramidal sign | Anxiety | Apathy | Aspiration | Autosomal recessive inheritance | Axial hypotonia | Blindness | Cerebral atrophy | Cherry red spot of the macula | Chorea | Cognitive impairment | Dementia | Developmental regression | Dystonia | Exaggerated startle response | GM2-ganglioside accumulation | Generalized hypotonia | Global developmental delay | Hyperacusis | Hyperreflexia | Hypertonia | Hypotonia | Inappropriate behavior | Infantile onset | Loss of speech | Neurodegeneration | Paralysis | Poor head control | Postnatal growth retardation | Primitive reflex | Progressive spastic quadriplegia | Pseudobulbar signs | Seizure | Short stature | Spastic tetraparesis" ], "symptoms_ja_list": [ "Dementia | GM2-ganglioside 蓄積 | ジストニア | 不安 | 不適切行動 | 低身長 | 体幹の筋緊張低下 | 偽性球麻痺サイン | 全般性発達遅滞 | 全身性筋緊張低下 | 原始反射 (掌頤", "口とがらせ", "眉間) | 反射亢進 | 大脳萎縮 | 常染色体潜性遺伝 | 無関心", "感情鈍磨 | 生後の成長遅滞 | 異常な不随意眼運動 | 異常な恐怖/不安関連行動 | 痙性四肢不全麻痺 | 発作 | 発語喪失 | 発達退行 | 盲 | 神経変性 | 筋緊張亢進 | 筋緊張低下 | 聴覚過敏 | 舞踏病 | 誇張された驚愕反応 | 認知障害 | 誤嚥 | 進行性痙性四肢麻痺 | 錐体路運動機能の異常 | 頸定不全 | 麻痺 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2200955", "label_en": "Rubinstein-Taybi syndrome", "label_ja": "ルビンシュタイン・テイビ症候群", "yomigana": "るびんしゅたいん・ていびしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200955", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal corpus callosum morphology | Abnormal distal phalanx morphology of finger | Abnormal heart morphology | Abnormal pulmonary interstitial morphology | Abnormality of the dentition | Abnormality of the genitourinary system | Anxiety | Aplasia/Hypoplasia of the cerebellar vermis | Atrial septal defect | Attention deficit hyperactivity disorder | Atypical behavior | Atypical scarring of skin | Autistic behavior | Avascular necrosis of the capital femoral epiphysis | Brachydactyly | Broad hallux phalanx | Broad thumb | Capillary hemangioma | Carious teeth | Cataract | Chiari malformation | Clinodactyly of the 5th finger | Clubbing of toes | Coloboma | Constipation | Convex nasal ridge | Cryptorchidism | Delayed speech and language development | Dental crowding | Downslanted palpebral fissures | Epicanthus | Failure to thrive in infancy | Feeding difficulties in infancy | Finger syndactyly | Generalized hirsutism | Glaucoma | Global developmental delay | Hearing impairment | High palate | Highly arched eyebrow | Hip dysplasia | Hypertelorism | Intellectual disability | Irritability | Joint hypermobility | Keloids | Low-set ears | Microcephaly | Micrognathia | Nasolacrimal duct obstruction | Obesity | Polyhydramnios | Ptosis | Recurrent infections | Respiratory distress | Respiratory insufficiency | Seizure | Short stature | Sleep apnea | Strabismus | Talon cusp | Telecanthus | Wide nasal bridge" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | ばち趾 | ケロイド | コロボーマ | 不安 | 両眼隔離 | 乳児期の成長障害 (成長不全) | 低身長 | 便秘 | 停留精巣 | 全般性発達遅滞 | 全身性多毛 | 内眼角外方偏位 | 内眼角贅皮 | 凸の鼻梁 | 反復性感染症 | 合指症 | 呼吸不全 | 呼吸窮迫 | 大腿骨骨頭骨端の無血管性壊死 | 小脳虫部無形成/低形成 | 小頭 | 小顎 | 幅広い母指 | 幅広い母趾趾骨 | 幅広い鼻梁 | 循環器系の形態異常 | 心形態の異常 | 心房中隔欠損 | 指の末節骨の異常 | 斜視 | 歯の異常 | 歯混雑 | 毛細血管血管腫 | 泌尿生殖器異常 | 注意力欠陥多動性疾患 | 発作 | 発語および言語発達遅延 | 白内障 | 眼瞼下垂 | 眼瞼裂斜下 | 睡眠時無呼吸 | 知的障害 | 短指症候群 | 第5指弯指 | 緑内障 | 羊水過多 | 耳介低位 | 股関節異形成 | 肥満 | 脳梁の異常 | 自閉性行動 | 行動異常 | 被刺激性 | 距錐咬頭 | 間質性肺疾患 | 関節過動 | 難聴 | 非典型的皮膚瘢痕 | 食餌摂取障害 in infancy | 高位の弓形眉毛 | 高口蓋 | 鼻涙管閉塞 | 齲歯" ] }, { "id": "NANDO:1200921", "label_en": "Hereditary pancreatitis", "label_ja": "遺伝性膵炎", "yomigana": "いでんせいすいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200921", "notificationNumber": "298", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abdominal pain | Abnormal circulating enzyme concentration or activity | Abnormal thrombosis | Autosomal dominant inheritance | Diabetes mellitus | Elevated circulating C-reactive protein concentration | Exocrine pancreatic insufficiency | Fever | Increased total leukocyte count | Jaundice | Pancreatic calcification | Pancreatic pseudocyst | Pancreatitis | Pleural effusion | Recurrent pancreatitis | Steatorrhea" ], "symptoms_ja_list": [ "CRP 上昇 | 反復性膵炎 | 外分泌性膵不全 | 常染色体顕性遺伝 | 異常な血栓症 | 発熱 | 白血球増多症 | 石灰化 | 糖尿病 | 胸膜滲出液 | 脂肪便 | 腹痛 | 膵偽嚢胞 | 膵炎 | 高度/補酵素活性異常 | 黄疸" ] }, { "id": "NANDO:2200474", "label_en": "Homocystinuria", "label_ja": "ホモシスチン尿症", "yomigana": "ほもしすちんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200474", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200346", "label_en": "IgG subclass deficiency", "label_ja": "IgGサブクラス欠損症", "yomigana": "あいじーじーさぶくらすけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200346", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100218", "label_en": "Joubert syndrome related disorders", "label_ja": "ジュベール症候群関連疾患", "yomigana": "じゅべーるしょうこうぐんかんれんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100218", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201490", "label_en": "Asymptomatic syringomyelia", "label_ja": "無症候性脊髄空洞症", "yomigana": "むしょうこうせいせきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201490", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201131", "label_en": "Presymptomatic carnitine palmitoyltransferase II deficiency", "label_ja": "発症前型カルニチンパルミトイルトランスフェラーゼII欠損症", "yomigana": "はっしょうまえがたかるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201131", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201214", "label_en": "Variant Fabry disease", "label_ja": "亜型ファブリー病", "yomigana": "あがたふぁぶりーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201214", "notificationNumber": "124", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200819", "label_en": "Holoprosencephaly", "label_ja": "全前脳胞症", "yomigana": "ぜんぜんのうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200819", "notificationNumber": "88", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [ "Abnormal antihelix morphology | Abnormal aortic morphology | Abnormal facial shape | Abnormal nervous system morphology | Abnormal pinna morphology | Abnormal pulmonary valve morphology | Abnormal skull morphology | Abnormal vertebral body morphology | Abnormality of neuronal migration | Abnormality of the spleen | Abnormality of the urinary system | Absent nares | Anophthalmia | Anosmia | Anterior hypopituitarism | Anteverted nares | Aplasia/Hypoplasia involving the nose | Aplasia/Hypoplasia of the cerebellum | Aplasia/Hypoplasia of the corpus callosum | Aplasia/Hypoplasia of the lungs | Arrhythmia | Bilateral cleft lip | Blepharophimosis | Brachydactyly | Branchial anomaly | Broad philtrum | Choanal atresia | Chorea | Chorioretinal coloboma | Cognitive impairment | Congenital diaphragmatic hernia | Constipation | Cryptorchidism | Cyclopia | Dandy-Walker malformation | Deep philtrum | Deeply set eye | Depressed nasal ridge | Depressed nasal tip | Diabetes insipidus | Diabetes mellitus | Dystonia | Encephalocele | Epicanthus | Failure to thrive in infancy | Feeding difficulties in infancy | Flat occiput | Frontal bossing | Gastroesophageal reflux | Global developmental delay | Hand polydactyly | Highly arched eyebrow | Holoprosencephaly | Hydrocephalus | Hypertelorism | Hypoglycemia | Hyponatremia | Hypoplasia of penis | Hypoplasia of the zygomatic bone | Hyposmia | Hypotelorism | Hypotonia | Intestinal atresia | Iris coloboma | Joint hypermobility | Macrocephaly | Macrotia | Median cleft palate | Median cleft upper lip | Microcephaly | Microphthalmia | Muscle weakness | Omphalocele | Optic atrophy | Panhypopituitarism | Proteinuria | Ptosis | Respiratory insufficiency | Retinopathy | Scoliosis | Seizure | Short neck | Solitary median maxillary central incisor | Spasticity | Spinal cord tumor | Spinal dysraphism | Synophrys | Talipes | Tetralogy of Fallot | Thick eyebrow | Tooth agenesis | Upslanted palpebral fissure | Ventricular septal defect" ], "symptoms_ja_list": [ "Dandy-Walker 奇形 | Fallot 四徴症 | コロボーマ | ジストニア | ニューロン移動の異常 | 上向きの鼻孔 | 下垂体前葉機能低下症 | 不整脈 | 両側性口唇裂 | 両眼接近 | 両眼隔離 | 乳児期の成長障害 (成長不全) | 低ナトリウム血症 | 低血糖 | 便秘 | 停留精巣 | 側弯 | 先天性横隔膜ヘルニア | 全前脳胞症 | 全般性発達遅滞 | 内眼角贅皮 | 分厚い眉毛 | 前頭突出", "額突出 | 単一正中上顎切歯 | 単眼 | 呼吸不全 | 嗅覚減退 | 多指症 | 大動脈の異常 | 大耳 | 大頭 | 対耳輪の異常 | 小眼球 | 小脳無形成/低形成 | 小頭 | 尖足 | 尿崩症 | 尿路異常 | 幅広い人中 | 平坦な後頭 | 後鼻孔閉鎖 | 心室中隔欠損 | 椎体骨形態異常 | 正中口唇裂 | 正中口蓋裂 | 歯数の減少 number of teeth | 水頭症 | 汎下垂体機能低下症 | 深い人中 | 無嗅覚 | 無眼球 | 異常な顔の形 | 痙性 | 発作 | 眼瞼下垂 | 眼瞼裂斜上 | 眼瞼裂狭小 | 短い頸部 | 短指症候群 | 神経系形態の異常 | 筋緊張低下 | 筋虚弱 | 糖尿病 | 網膜症 | 耳介の異常 | 肺動脈弁の異常 | 肺無形成/低形成 | 胃食道逆流 | 脈絡膜網膜コロボーマ | 脊椎破裂 | 脊髄腫瘍 | 脳梁無形成/低形成 | 脳瘤 | 脾の異常 | 腸閉鎖 | 臍帯ヘルニア | 舞踏病 | 落ちくぼんだ眼 | 落ちくぼんだ鼻尖 | 落ちくぼんだ鼻梁 | 蛋白尿 | 視神経萎縮 | 認知障害 | 連続眉毛 | 関節過動 | 陰茎低形成 | 頬骨未発達 | 頭蓋骨の異常 | 食餌摂取障害 in infancy | 高位の弓形眉毛 | 鰓奇形 | 鼻の無形成/低形成 | 鼻孔欠損" ] }, { "id": "NANDO:2201155", "label_en": "Glycogen storage disease type 3a", "label_ja": "糖原病IIIa型", "yomigana": "とうげんびょう3えーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201155", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200822", "label_en": "Congenital hydrocephalus", "label_ja": "先天性水頭症", "yomigana": "せんてんせいすいとうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200822", "notificationNumber": "89", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [ "Abnormal cortical gyration | Abnormal heart morphology | Bulbous nose | Downslanted palpebral fissures | Facial asymmetry | Frontal bossing | Hydrocephalus | Intellectual disability | Iris coloboma | Lissencephaly | Macrocephaly | Macular hypoplasia | Motor delay | Optic atrophy | Posteriorly rotated ears | Seizure | Sensorineural hearing impairment | Small cerebral cortex | Strabismus | Ventriculomegaly" ], "symptoms_ja_list": [ "コロボーマ | 前頭突出", "額突出 | 大頭 | 小さい大脳皮質 | 心形態の異常 | 感音難聴 | 斜視 | 水頭症 | 滑脳症 | 球状の鼻 | 異常な皮質脳回形成 | 発作 | 眼瞼裂斜下 | 知的障害 | 耳介後方回転 | 脳室拡大 | 視神経萎縮 | 運動発達遅滞 | 顔面非対称 | 黄斑低形成" ] }, { "id": "NANDO:2201112", "label_en": "Presymptomatic propionic acidemia", "label_ja": "発症前型プロピオン酸血症", "yomigana": "はっしょうまえがたぷろぴおんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201112", "notificationNumber": "106", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200764", "label_en": "Peroxisomal beta-oxidation enzyme deficiency", "label_ja": "ペルオキシソームβ酸化系酵素欠損症", "yomigana": "ぺるおきしそーむべーたさんかけいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200764", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200953", "label_en": "Sotos syndrome", "label_ja": "ソトス症候群", "yomigana": "そとすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200953", "notificationNumber": "26", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "2-3 toe syndactyly | Abnormal heart morphology | Abnormal vertebral morphology | Abnormality of the dentition | Abnormality of the kidney | Absent speech | Accelerated skeletal maturation | Acute lymphoblastic leukemia | Advanced eruption of teeth | Aganglionic megacolon | Agenesis of permanent teeth | Aggressive behavior | Ankle flexion contracture | Anteverted nares | Anxiety | Aortic aneurysm | Aplasia/Hypoplasia of the corpus callosum | Arachnoid cyst | Astigmatism | Astrocytoma | Atrial septal defect | Attention deficit hyperactivity disorder | Atypical behavior | Autistic behavior | Autosomal dominant inheritance | Bilateral camptodactyly | Bilateral tonic-clonic seizure | Broad forehead | Broad nasal tip | Cataract | Cavum septum pellucidum | Cerebellar vermis hypoplasia | Cerebral atrophy | Childhood onset | Cholesteatoma | Chronic otitis media | Coarse facial features | Conductive hearing impairment | Congenital posterior urethral valve | Constipation | Craniosynostosis | Cryptorchidism | Decreased fertility | Decreased fetal movement | Delayed eruption of permanent teeth | Delayed speech and language development | Depressed nasal bridge | Dolichocephaly | Downslanted palpebral fissures | Dyscalculia | Enlarged cisterna magna | Enlarged naris | Episodic vomiting | Esotropia | Expressive language delay | Feeding difficulties | Fetal onset | Flexion contracture | Focal impaired awareness seizure | Frontal bossing | Gastroesophageal reflux | Generalized myoclonic seizure | Generalized non-motor (absence) seizure | Genu valgum | Global developmental delay | Glucose intolerance | Hearing impairment | Hemangioma | High anterior hairline | High forehead | High palate | High", "narrow palate | Hip contracture | Hydrocele testis | Hydronephrosis | Hypercalcemia | Hypermetropia | Hyperpigmentation of the skin | Hyperreflexia | Hypertelorism | Hypodontia | Hypopigmentation of the skin | Hypospadias | Hypothyroidism | Hypotonia | Incoordination | Increased arm span | Increased body weight | Inguinal hernia | Intellectual disability | Joint hypermobility | Kyphosis | Large hands | Long face | Long foot | Long metacarpals | Long phalanx of finger | Low-set ears | Macrocephaly | Macrotia | Mandibular prognathia | Mild intellectual disability | Moderate intellectual disability | Motor delay | Muscular ventricular septal defect | Myopia | Narrow face | Narrow jaw | Narrow palate | Neonatal hypoglycemia | Neonatal hypotonia | Neonatal onset | Neoplasm | Neuroblastoma | Nystagmus | Otitis media | Overgrowth | Partial agenesis of the corpus callosum | Patent ductus arteriosus | Pectus excavatum | Pedal edema | Pes planus | Phimosis | Pointed chin | Posteriorly rotated ears | Prolonged neonatal jaundice | Prominent forehead | Renal agenesis | Renal insufficiency | Scoliosis | Seizure | Severe intellectual disability | Small nail | Sparse anterior scalp hair | Strabismus | Talipes equinovarus | Tall stature | Tremor | Triangular face | Umbilical hernia | Ureteral duplication | Ureteropelvic junction obstruction | Ventricular septal defect | Ventriculomegaly | Vesicoureteral reflux" ], "symptoms_ja_list": [ "くも膜嚢胞 | コレステリン腫 | 三角形の顔 | 上向きの鼻孔 | 下顎突出 | 不安 | 両側性屈指 | 両眼隔離 | 中耳炎 | 乱視 | 伝音難聴 | 体重増加 | 便秘 | 停留精巣 | 側弯 | 先天性後部尿道弁 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 内反尖足 | 内斜視 | 前頭突出", "額突出 | 動脈管開存症 | 協調運動障害 | 反射亢進 | 嘔吐エピソード | 外反膝 | 大きな手 | 大動脈瘤 | 大槽拡大 | 大耳 | 大脳萎縮 | 大頭 | 妊孕性減少 | 小さい爪 | 小脳虫部低形成 | 尖った下顎 | 尿管腎盂接合部閉塞 | 尿管重複 | 尿道下裂 | 屈曲拘縮 | 常染色体顕性遺伝 | 幅広い額 | 幅広い鼻尖 | 後弯 | 心室中隔欠損 | 心形態の異常 | 心房中隔欠損 | 急性リンパ性白血病 | 意識または覚醒障害を伴う焦点性発作 | 慢性中耳炎 | 扁平足 | 振戦 | 攻撃的行動 | 斜視 | 新生児低血糖 | 新生児筋緊張低下 | 新生物 | 方形 | 星状細胞腫 | 欠神発作 | 歯の異常 | 歯萠出促進 | 水腎症 | 永久歯無発生 | 永久歯萠出遅延 | 注意力欠陥多動性疾患 | 浮腫 (下肢) | 減歯症 | 漏斗胸 | 無神経節性巨大結腸 | 狭い下顎 | 狭い口蓋 | 狭い顔 | 甲状腺機能低下症 | 疎な前部頭髪 | 発作 | 発語および言語発達遅延 | 発語欠損 | 発語遅延 | 白内障 | 皮膚低色素 | 皮膚高色素 | 目立つ額 | 眼振 | 眼瞼裂斜下 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "軽度 | 知的障害", "重度 | 神経芽腫 | 第2-3 合趾症 | 筋性心室中隔欠損 | 筋緊張低下 | 粗な顔貌 | 耐糖能異常 | 耳介低位 | 耳介後方回転 | 股関節拘縮 | 胃食道逆流 | 胎動減少 | 脊椎の異常 | 脳室拡大 | 脳梁の部分的無発生 | 脳梁無形成/低形成 | 腎不全 | 腎無発生 | 腎異常 | 腕長増加 | 膀胱尿管逆流 | 臍ヘルニア | 自閉性行動 | 落ちくぼんだ鼻梁 | 血管腫 | 行動異常 | 計算障害 | 足関節拘縮 | 近視 | 透明中隔嚢胞 | 運動発達遅滞 | 過成長 | 遠視 | 遷延性新生児黄疸 | 長い中手骨 | 長い指骨 | 長い足 | 長い顔 | 長頭 | 関節過動 | 陰嚢水腫 | 難聴 | 頭蓋合骨症 | 食餌摂取障害 | 骨成熟促進 | 高い前部毛髪線 | 高い額 | 高カルシウム血症 | 高口蓋 | 高狭口蓋 | 高身長 | 鼠径ヘルニア | 鼻孔拡大" ] }, { "id": "NANDO:2200761", "label_en": "Anhidrotic ectodermal dysplasia with immunodeficiency", "label_ja": "免疫不全を伴う無汗性外胚葉形成異常症", "yomigana": "めんえきふぜんをともなうむかんせいがいはいようけいせいいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200761", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Abnormal circulating immunoglobulin concentration | Autoimmunity | Chronic diarrhea | Conical tooth | Decreased circulating IgA concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased circulating immunoglobulin concentration | Ectodermal dysplasia | Eczematoid dermatitis | Failure to thrive | Feeding difficulties in infancy | Growth delay | Hypohidrosis | Increased circulating IgE concentration | Increased circulating IgG concentration | Increased circulating IgM concentration | Increased total B cell count | Increased total T cell count | Inflammation of the large intestine | Nail dystrophy | Osteopenia | Pedal edema | Recurrent bacterial infections | Recurrent mucocutaneous candidiasis | Recurrent mycobacterial infections | Recurrent otitis media | Recurrent sinusitis | Sparse hair" ], "symptoms_ja_list": [ "B 細胞数増加 | IgA欠乏症 | IgE 値増加 | IgG 値増加 | IgG欠乏症 | IgM 値増加 | IgM欠乏症 | T 細胞数増加 | 低ガンマグロブリン血症 | 免疫グロブリン値異常 | 円錐型切歯 | 反復性マイコバクテリウム感染症 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性細菌感染症 | 外胚葉形成不全 | 大腸の炎症 | 慢性下痢 | 慢性粘膜皮膚カンジダ症 | 成長遅滞 | 成長障害 (成長不全) | 浮腫 (下肢) | 減汗症 | 湿疹 | 爪ジストロフィー | 疎な毛髪 | 自己免疫 | 食餌摂取障害 in infancy | 骨減少症" ] }, { "id": "NANDO:1200564", "label_en": "Focal cortical dysplasia", "label_ja": "限局性皮質異形成", "yomigana": "げんきょくせいひしついけいせい", "url": "http://nanbyodata.jp/ontology/NANDO_1200564", "notificationNumber": "137", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cortical gyration | Abnormal neuron morphology | Abnormality of the nervous system | Atypical behavior | Bilateral tonic-clonic seizure with focal onset | Cognitive impairment | Epileptic spasm | Focal impaired awareness seizure | Focal-onset seizure | Generalized-onset seizure | Hemiparesis | Infantile spasms | Mild intellectual disability | Psychomotor deterioration | Seizure | Severe intellectual disability | Thick cerebral cortex" ], "symptoms_ja_list": [ "てんかん性スパスム | 両側性けいれん発作 | 乳児スパスム | 全身性発作 | 分厚い大脳皮質 | 意識または覚醒障害を伴う焦点性発作 | 焦点性発作 | 片側不全麻痺 | 異常なニューロン形態 | 異常な皮質脳回形成 | 発作 | 知的障害", "軽度 | 知的障害", "重度 | 神経系の異常 | 精神運動発達悪化 | 行動異常 | 認知障害" ] }, { "id": "NANDO:2201441", "label_en": "Proton-pump inhibitor-responsive esophageal eosinophilia", "label_ja": "Proton pump inhibitor-responsive esophageal eosinophilia", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_2201441", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100210", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201282", "label_en": "p67phox-deficient chronic granulomatous disease", "label_ja": "p67phox欠損慢性肉芽腫症", "yomigana": "ぴー67ふぉっくすけっそんまんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201282", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Absence of bactericidal oxidative respiratory burst in phagocytes | Autosomal recessive inheritance | Cellulitis | Childhood onset | Decreased activity of NADPH oxidase | Decreased neutrophil oxidative burst | Discoid lupus rash | Eczematoid dermatitis | Failure to thrive | Granulomatosis | Hepatomegaly | Immunodeficiency | Infantile onset | Inflammation of the large intestine | Juvenile onset | Liver abscess | Lymphadenitis | Lymphadenopathy | Mediastinal lymphadenopathy | Osteomyelitis | Perianal abscess | Peritonitis | Rectal abscess | Recurrent Aspergillus infection | Recurrent Burkholderia cepacia infection | Recurrent Escherichia coli infection | Recurrent Klebsiella infection | Recurrent Serratia infection | Recurrent Staphylococcus aureus infection | Recurrent abscess formation | Recurrent bacterial skin infections | Recurrent infections | Recurrent oral thrush | Recurrent pneumonia | Recurrent urinary tract infections | Splenomegaly" ], "symptoms_ja_list": [ "NADPH oxidase活性の減少 | nitroblue tetrazolium (NBT) 還元試験陰性 | リンパ節炎 | リンパ節腫大 | 免疫不全 | 円板状紅斑性狼瘡 | 反復性アスペルギルス感染症 | 反復性クレブシエラ感染症 | 反復性セパシア菌感染症 | 反復性セラチア菌感染症 | 反復性大腸菌感染症 | 反復性尿路感染症 | 反復性感染症 | 反復性細菌性皮膚感染症 | 反復性肺炎 | 反復性膿瘍形成 | 反復性黄色ブドウ球菌感染症 | 大腸の炎症 | 常染色体潜性遺伝 | 慢性口腔カンジダ症 | 成長障害 (成長不全) | 湿疹 | 直腸膿瘍 | 縦隔リンパ節腫大 | 肉芽腫症 | 肛門周囲膿瘍 | 肝腫 | 肝膿瘍 | 脾腫 | 腹膜炎 | 蜂巣織炎 | 貪食細胞での殺菌的酸化 '呼吸バースト' の欠損 | 骨髄炎" ] }, { "id": "NANDO:1200617", "label_en": "Lamellar ichthyosis", "label_ja": "葉状魚鱗癬", "yomigana": "ようじょうぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200617", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal helix morphology | Abnormal nail morphology | Abnormality of the dentition | Alopecia | Aplasia/Hypoplasia of the eyebrow | Chronic otitis media | Cognitive impairment | Corneal erosion | Dehydration | Dry skin | Ectropion | Erythroderma | Everted lower lip vermilion | Failure to thrive | Gangrene | Hearing impairment | Hyperkeratosis | Hypohidrosis | Ichthyosis | Keratitis | Lack of skin elasticity | Palmoplantar keratoderma | Pruritus | Recurrent respiratory infections | Renal insufficiency | Sepsis | Short stature | Sparse hair" ], "symptoms_ja_list": [ "下口唇唇紅部外反 | 乾いた皮膚 | 低身長 | 反復性呼吸器感染症 | 壊疽 | 外反(眼瞼) | 外耳輪の異常 | 慢性中耳炎 | 成長障害 (成長不全) | 掌蹠角皮症 | 掻痒 | 敗血症 | 歯の異常 | 減汗症 | 爪の異常 | 疎な毛髪 | 皮膚弾性欠如 | 眉毛の無形成/低形成 | 禿頭 | 紅皮症 | 脱水 | 腎不全 | 角膜びらん | 角膜炎 | 認知障害 | 過角化症 | 難聴 | 魚鱗癬" ] }, { "id": "NANDO:2201286", "label_en": "Altman type III sacrococcygeal teratoma", "label_ja": "仙尾部奇形腫（Altman III型）", "yomigana": "せんびぶきけいしゅ（あるとまん3がた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201286", "notificationNumber": "57", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100216", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200151", "label_en": "Congenital neuronal ceroid lipofuscinosis", "label_ja": "先天型神経セロイドリポフスチン症", "yomigana": "せんてんがたしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200151", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100285", "label_en": "Pustular psoriasis", "label_ja": "膿疱性乾癬（汎発型）", "yomigana": "のうほうせいかんせん（はんぱつがた）", "url": "http://nanbyodata.jp/ontology/NANDO_2100285", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200208", "label_en": "Chronic lung disease", "label_ja": "慢性肺疾患", "yomigana": "まんせいはいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200208", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100038", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200041", "label_en": "Spinocerebellar ataxia type 3", "label_ja": "脊髄小脳失調症3型", "yomigana": "せきずいしょうのうしっちょうしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200041", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal pyramidal sign | Abnormal vestibular function | Abnormality of extrapyramidal motor function | Abnormality of temperature regulation | Absent Achilles reflex | Ataxia | Autosomal dominant inheritance | Babinski sign | Bradykinesia | Cerebellar atrophy | Chronic pain | Clumsiness | Delayed speech and language development | Dementia | Dilated fourth ventricle | Diplopia | Distal amyotrophy | Dysarthria | Dysmetric saccades | Dysphagia | Dystonia | External ophthalmoplegia | Facial-lingual fasciculations | Fasciculations | Gaze-evoked nystagmus | Genetic anticipation | Gliosis | Hyperreflexia | Impaired horizontal smooth pursuit | Impaired vibratory sensation | Limb ataxia | Muscle spasm | Nystagmus | Parkinsonism | Postural instability | Progressive | Progressive cerebellar ataxia | Progressive external ophthalmoplegia | Proptosis | Ptosis | Rigidity | Skeletal muscle atrophy | Spasticity | Spinocerebellar tract degeneration | Supranuclear ophthalmoplegia | Truncal ataxia | Urinary bladder sphincter dysfunction | Vocal cord paralysis" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | アキレス腱反射欠損 | ジストニア | パーキンソン症候群 | 不器用 | 体幹失調 | 体温調節の異常 | 前庭機能障害 | 反射亢進 | 嚥下障害 | 四肢失調 | 声帯麻痺 | 外眼筋麻痺 | 姿勢不安定 | 小脳萎縮 | 常染色体顕性遺伝 | 慢性疼痛 | 振動覚障害 | 核上性眼筋麻痺 | 構音障害 | 水平性の滑らかな追視の障害 | 注視誘発性眼振 | 測定障害性断続性眼球運動 | 異常な自律神経生理 | 痙性 | 発語および言語発達遅延 | 眼振 | 眼球突出 | 眼瞼下垂 | 硬直 | 神経膠症 | 第4脳室拡大 | 筋けいれん | 筋萎縮 | 線維束性収縮 | 脊髄小脳路変性 | 膀胱括約筋機能障害 | 表現促進現象 | 複視 | 進行性外眼筋麻痺 | 進行性小脳失調 | 運動失調 | 運動緩徐 | 遠位筋萎縮 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 顔-舌線維束性収縮" ] }, { "id": "NANDO:1200415", "label_en": "Sarcoidosis", "label_ja": "サルコイドーシス", "yomigana": "さるこいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200415", "notificationNumber": "84", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal cerebrospinal fluid morphology | Abnormal conjunctiva morphology | Abnormal lung morphology | Abnormal lymph node morphology | Abnormal nasal mucosa morphology | Abnormal pleura morphology | Abnormal reproductive system morphology | Abnormal skin morphology | Abnormality of the adrenal glands | Abnormality of the gastrointestinal tract | Abnormality of the musculature | Alopecia | Anemia | Arrhythmia | Arthritis | Blindness | Bone cyst | Bronchiectasis | Cataract | Chest pain | Chylothorax | Cough | Dacryocystitis | Decreased liver function | Decreased total leukocyte count | Diabetes insipidus | Dyspnea | Emphysema | Enlarged lacrimal glands | Enlargement of parotid gland | Erythema nodosum | Facial palsy | Fatigue | Fever | Glaucoma | Heart block | Hemolytic anemia | Hemoptysis | Hepatic failure | Hepatomegaly | Hypercalcemia | Hypercalciuria | Hyperpigmentation of the skin | Hyperthyroidism | Hypopigmentation of the skin | Hypothermia | Hypothyroidism | Increased CSF protein concentration | Increased total T cell count | Increased total eosinophil count | Joint swelling | Keratoconjunctivitis sicca | Kidney stone | Lymphadenopathy | Nephrocalcinosis | Parotitis | Peripheral neuropathy | Pleural effusion | Pneumothorax | Portal hypertension | Proximal muscle weakness | Pulmonary fibrosis | Renal insufficiency | Scarring | Skin nodule | Skin plaque | Subcutaneous nodule | Thrombocytopenia | Tubulointerstitial nephritis | Upper airway obstruction | Uveitis | Ventricular tachycardia | Weight loss" ], "symptoms_ja_list": [ "T 細胞数増加 | ブドウ膜炎 | リンパ節の異常 | リンパ節腫大 | 上気道閉塞 | 不整脈 | 乳糜胸 | 乾燥性 | 低体温 | 体重喪失 | 共通 | 副腎異常 | 呼吸困難 | 喀血 | 外層 | 好酸球増多症 | 尿崩症 | 尿細管間質性腎炎 | 心ブロック | 心室性 頻拍 | 性器形態異常 | 末梢神経ニューロパチー | 気管支拡張 | 気胸 | 涙嚢炎 | 涙腺拡大 | 溶血性貧血 | 甲状腺機能亢進症 | 甲状腺機能低下症 | 疲労 | 瘢痕 | 発熱 | 白内障 | 白血球減少症 | 皮下結節 | 皮膚低色素 | 皮膚局面 | 皮膚形態の異常 | 皮膚結節 | 皮膚高色素 | 盲 | 禿頭 | 筋の異常 | 結節性紅斑 | 結膜の異常 | 緑内障 | 耳下腺拡大 | 耳下腺炎 | 肝不全 | 肝機能低下 | 肝腫 | 肺の異常 | 肺気腫 | 肺線維症 | 胃腸管の異常 | 胸膜の異常 | 胸膜滲出液 | 腎不全 | 腎石灰化症 | 腎結石 | 血小板減少 | 貧血 | 近位筋虚弱 | 門脈圧亢進 | 関節炎 | 関節腫脹 | 顔面麻痺 | 骨嚢胞 | 髄液の異常 | 髄液タンパクの増加 | 高カルシウム尿 | 高カルシウム血症 | 鼻粘膜の異常" ] }, { "id": "NANDO:2201253", "label_en": "Pre-symptomatic male adrenoleukodystrophy", "label_ja": "副腎白質ジストロフィー（発症前男性等）", "yomigana": "ふくじんはくしつじすとろふぃー（はっしょうまえだんせいなど）", "url": "http://nanbyodata.jp/ontology/NANDO_2201253", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200332", "label_en": "Nijmegen breakage syndrome", "label_ja": "ナイミーヘン染色体不安定症候群", "yomigana": "ないみーへんせんしょくたいふあんていしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200332", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "2-3 toe syndactyly | Abnormal eyelid morphology | Abnormal hair morphology | Abnormal hair quantity | Abnormality of chromosome stability | Abnormality of neuronal migration | Abnormality of the face | Abnormality of the musculature | Acute leukemia | Anal atresia | Anal stenosis | Anorectal anomaly | Attention deficit hyperactivity disorder | Autoimmune hemolytic anemia | Autosomal recessive inheritance | B-cell lymphoma | Bronchiectasis | Cachexia | Cafe-au-lait spot | Choanal atresia | Chronic diarrhea | Cleft palate | Cleft upper lip | Congenital onset | Conjunctival telangiectasia | Convex nasal ridge | Cutaneous photosensitivity | Decreased total B cell count | Decreased total T cell count | Deep philtrum | Delayed speech and language development | Depressed nasal bridge | Diarrhea | Epicanthus | Freckling | Glioma | Hearing abnormality | Hemolytic anemia | Hydronephrosis | Hyperactivity | Intellectual disability | Intrauterine growth retardation | Long nose | Low anterior hairline | Lymphoma | Macrotia | Malar prominence | Mastoiditis | Medulloblastoma | Mental deterioration | Microcephaly | Micrognathia | Muscle weakness | Neoplasm | Neurodegeneration | Non-midline cleft of the upper lip | Pollakisuria | Premature ovarian insufficiency | Progressive vitiligo | Prominent nasal bridge | Prominent nose | Recurrent bronchitis | Recurrent infection of the gastrointestinal tract | Recurrent otitis media | Recurrent pneumonia | Recurrent respiratory infections | Recurrent sinopulmonary infections | Recurrent urinary tract infections | Respiratory failure | Retinal pigment epithelial mottling | Retrognathia | Rhabdomyosarcoma | Sandal gap | Short neck | Short stature | Sinusitis | Skeletal muscle atrophy | Sloping forehead | T-cell lymphoma | Thrombocytopenia | Upslanted palpebral fissure | obsolete Dysgammaglobulinemia" ], "symptoms_ja_list": [ "B リンパ球減少症 | B-細胞リンパ腫 | T リンパ球減少症 | T-細胞リンパ腫 | カフェオーレ斑 | サンダルギャップ | ニューロン移動の異常 | リンパ腫 | 上口唇裂 | 下痢 | 下顎後退 | 乳様突起炎 | 低い前部毛髪線 | 低身長 | 内眼角贅皮 | 凸の鼻梁 | 副鼻腔炎 | 反復性中耳炎 | 反復性副鼻腔肺感染症 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性気管支炎 | 反復性肺炎 | 口蓋裂 | 呼吸不全 | 塩胡椒網膜症 | 多動 | 大耳 | 子宮内成長遅滞 | 小頭 | 小顎 | 常染色体潜性遺伝 | 後鼻孔閉鎖 | 急性白血病 | 悪液質 (カヘキシー) | 慢性下痢 | 新生物 | 早発性卵巣不全 | 染色体安定性の異常 | 横紋筋肉腫 | 毛髪の異常 | 気管支拡張 | 水腎症 | 注意力欠陥多動性疾患 | 深い人中 | 溶血性貧血 | 異常な毛髪量 | 異常ガンマグロブリン血症 | 発語および言語発達遅延 | 皮膚光線過敏症 | 目立つ鼻 | 目立つ鼻梁 | 眼瞼の異常 | 眼瞼裂斜上 | 知的障害 | 知能悪化 | 短い頸部 | 神経変性 | 第2-3 合趾症 | 筋の異常 | 筋萎縮 | 筋虚弱 | 結膜毛細血管拡張 | 聴覚異常 | 肛門狭窄 | 肛門直腸奇形 | 胃腸管の反復感染症 | 膠腫 | 自己免疫性溶血性貧血 | 色素斑 | 落ちくぼんだ鼻梁 | 血小板減少 | 進行性白斑 | 鎖肛 | 長い鼻 | 非正中口唇裂 | 頬突出 | 頻用 | 額傾斜 | 顔の異常 | 髄芽腫" ] }, { "id": "NANDO:2200585", "label_en": "Other disorders of metal metabolism", "label_ja": "107から112までに掲げるもののほか、金属代謝異常症", "yomigana": "107から112までにかかげるもののほか、きんぞくたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200585", "notificationNumber": "30", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100167", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200960", "label_en": "Angelman syndrome", "label_ja": "アンジェルマン症候群", "yomigana": "あんじぇるまんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200960", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal facial shape | Abnormal speech pattern | Abnormality of the gastrointestinal tract | Absent speech | Aggressive behavior | Amblyopia | Anxiety | Astigmatism | Ataxia | Atonic seizure | Atypical absence seizure | Atypical behavior | Autistic behavior | Autosomal dominant inheritance | Blue irides | Brachycephaly | Broad-based gait | Cerebral cortical atrophy | Cerebral dysmyelination | Clumsiness | Constipation | Deeply set eye | Delayed menarche | Delayed speech and language development | Drooling | Dysphagia | EEG abnormality | Exotropia | Fair hair | Feeding difficulties | Feeding difficulties in infancy | Flat occiput | Floppy infant | Gastroesophageal reflux | Gastrostomy tube feeding in infancy | Generalized hypotonia | Generalized myoclonic seizure | Global developmental delay | Hyperactivity | Hypermetropia | Hyperreflexia | Hypopigmentation of the skin | Hypoplasia of the maxilla | Hypotonia | Inability to walk | Inappropriate laughter | Infantile spasms | Intellectual disability | Iris hypopigmentation | Keratoconus | Limb tremor | Macroglossia | Mandibular prognathia | Microcephaly | Motor delay | Myoclonus | Myopia | Nystagmus | Obesity | Optic atrophy | Optic disc pallor | Paroxysmal bursts of laughter | Pes valgus | Polyphagia | Poor speech | Poor suck | Precocious puberty in females | Progressive gait ataxia | Protruding tongue | Ptosis | Recurrent hand flapping | Reduced eye contact | Scoliosis | Secondary microcephaly | Seizure | Self-injurious behavior | Severe global developmental delay | Severe intellectual disability | Sleep disturbance | Sleep-wake cycle disturbance | Sporadic | Status epilepticus | Strabismus | Tongue thrusting | Tremor | Vomiting | Wide mouth | Widely spaced teeth" ], "symptoms_ja_list": [ "てんかん重積 | ミオクローヌス | 上顎低形成 | 下顎突出 | 不器用 | 不安 | 不適切な笑い | 乱視 | 乳児スパスム | 乳児期の胃瘻管栄養 | 乳児筋性筋緊張低下 | 便秘 | 側弯 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性筋緊張低下 | 円錐角膜 | 初潮遅延 | 反射亢進 | 反復性の手 | 吸啜不全 | 嘔吐 | 嚥下障害 | 四肢振戦 | 外反足 | 外斜視 | 多動 | 大脳皮質萎縮 | 大脳髄鞘形成異常症 | 女性での思春期早発 | 孤発性 | 小頭 | 巨舌 | 常染色体顕性遺伝 | 幅広い口 | 幅広歩行 | 平坦な後頭 | 弱視 | 振戦 | 攻撃的行動 | 斜視 | 歩行不能 | 歯間隔離 | 流涎 | 生後の小頭 | 異常な顔の形 | 発作 | 発作性の笑いの爆発 | 発語および言語発達遅延 | 発語不全 | 発語欠損 | 皮膚低色素 | 眼があわない | 眼振 | 眼瞼下垂 | 睡眠-覚醒周期障害 | 睡眠障害 | 知的障害 | 知的障害", "重度 | 短頭 | 神経学的発語障害 | 筋緊張低下 | 肥満 | 胃腸管の異常 | 胃食道逆流 | 脱力発作 | 脳波異常 | 自傷行動 | 自閉性行動 | 舌挺出 | 舌突出 | 落ちくぼんだ眼 | 虹彩低色素 | 行動異常 | 視神経杯蒼白 | 視神経萎縮 | 近視 | 進行性歩行失調 | 運動失調 | 運動発達遅滞 | 過食症 | 遠視 | 重度の全般性発達遅滞 | 金髪 | 青色虹彩 | 非典型的欠伸発作 | 食餌摂取障害 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200932", "label_en": "Vitelliform macular dystrophy", "label_ja": "卵黄様黄斑ジストロフィー", "yomigana": "らんおうようおうはんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200932", "notificationNumber": "301", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200473", "label_en": "Atypical hemolytic uremic syndrome", "label_ja": "非典型溶血性尿毒症症候群", "yomigana": "ひてんけいようけつせいにょうどくしょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200473", "notificationNumber": "109", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Abnormality of blood and blood-forming tissues | Abnormality of complement system | Abnormality of metabolism/homeostasis | Acute kidney injury | Decreased circulating complement factor B concentration | Decreased circulating complement factor I concentration | Hematuria | Microangiopathic hemolytic anemia | Proteinuria | Reduced circulating complement concentration | Thrombocytopenia" ], "symptoms_ja_list": [ "代謝/ホメオスターシスの異常 | 微小血管症性溶血性貧血 | 急性腎外傷 | 蛋白尿 | 血小板減少 | 血尿 | 血液および血液痙性組織の異常 | 血清補体 factor B減少 | 血清補体 factor I 減少 | 補体欠乏症 | 補体系の異常" ] }, { "id": "NANDO:1200801", "label_en": "Glutaric acidemia type 2", "label_ja": "グルタル酸血症2型", "yomigana": "ぐるたるさんけっしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200801", "notificationNumber": "250", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "3-Methylglutaric aciduria | Abnormal facial shape | Abnormal heart morphology | Abnormal pinna morphology | Abnormality of the genital system | Abnormality of the skeletal system | Acidosis | Acute pancreatitis | Areflexia | Arrhythmia | Autosomal recessive inheritance | Cardiomyopathy | Cardiorespiratory arrest | Congestive heart failure | Decreased circulating carnitine concentration | Decreased liver function | Depressed nasal bridge | Developmental cataract | Difficulty climbing stairs | Dysphagia | Dyspnea | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | Elevated circulating creatine kinase activity | Elevated circulating glutaric acid concentration | Elevated circulating hepatic transaminase concentration | Encephalopathy | Ethylmalonic aciduria | Exercise intolerance | Exercise-induced muscle fatigue | Feeding difficulties | Generalized aminoaciduria | Gliosis | Glutaric aciduria | Glycosuria | Gray matter heterotopia | Hepatic periportal necrosis | Hepatic steatosis | Hepatomegaly | High forehead | Hyperammonemia | Hyperlordosis | Hypertrophic cardiomyopathy | Hypoglycemia | Hypoglycemic coma | Hypotonia | Inability to walk | Increased intramyocellular lipid droplets | Intermittent diarrhea | Jaundice | Juvenile onset | Lactic acidosis | Lacticaciduria | Macrocephaly | Metabolic acidosis | Methylmalonic aciduria | Muscle weakness | Myalgia | Nausea | Neonatal death | Pachygyria | Pancreatitis | Phenotypic abnormality | Polycystic kidney dysplasia | Poor head control | Proximal muscle weakness | Proximal tubulopathy | Pulmonary hypoplasia | Renal cortical cysts | Respiratory distress | Respiratory failure | Restrictive ventilatory defect | Reye syndrome-like episodes | Rhabdomyolysis | Scapular winging | Seizure | Skeletal muscle atrophy | Telecanthus | Vomiting | Wide anterior fontanel" ], "symptoms_ja_list": [ "3-メチルグルタル酸尿症 | Electron transfer flavoprotein-ubiquinone oxidoreductase 障害 | Reye 症様エピソード | うっ血性心不全 | アシドーシス | エチルマロン酸尿 | グルタル酸尿 | グルタル酸酸血症 | メチルマロン酸尿 | 不整脈 | 乳酸尿 | 乳酸性アシドーシス | 代謝性アシドーシス | 低血糖 | 低血糖性昏睡 | 先天性白内障 | 内眼角外方偏位 | 前弯 | 吐気 | 呼吸不全 | 呼吸困難 | 呼吸窮迫 | 嘔吐 | 嚥下障害 | 多嚢胞性腎異形成 | 大頭 | 尿糖 | 常染色体潜性遺伝 | 幅広い大泉門 | 心形態の異常 | 心筋症 | 心肺停止 | 急性膵炎 | 性器異常 | 拘束性肺疾患 | 横紋筋融解 | 歩行不能 | 汎アミノ酸尿 | 無反射 | 異常な顔の形 | 発作 | 神経膠症 | 筋痛 | 筋細胞内脂肪滴増加 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 組織異所発生 | 翼状肩甲骨 | 耳介の異常 | 肝トランスアミナーゼ上昇 | 肝機能低下 | 肝腫 | 肝門脈周囲壊死 | 肥大型心筋症 | 肺低形成 | 脂肪肝 | 脳回肥厚 | 脳症 | 腎皮質嚢胞 | 膵炎 | 落ちくぼんだ鼻梁 | 血清 creatine phosphokinase上昇 | 血漿カルニチン減少 | 近位筋虚弱 | 近位腎尿細管症 | 運動不耐症 | 運動誘発性筋疲労 | 間歇的下痢 | 階段の登り困難 | 頸定不全 | 食餌摂取障害 | 骨格の異常 | 高い額 | 高アンモニア血症 | 黄疸" ] }, { "id": "NANDO:2200285", "label_en": "Supravalvular aortic stenosis", "label_ja": "大動脈弁上狭窄症", "yomigana": "だいどうみゃくべんじょうきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200285", "notificationNumber": "61", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100098", "symptoms_en_list": [ "Angina pectoris | Arrhythmia | Autosomal dominant inheritance | Dyspnea | Hypertension | Peripheral arterial stenosis | Pulmonary artery stenosis | Pulmonic stenosis | Supravalvular aortic stenosis | Syncope" ], "symptoms_ja_list": [ "不整脈 | 呼吸困難 | 失心 | 常染色体顕性遺伝 | 弁上性大動脈狭窄 | 末梢動脈疾患 | 狭心症 | 肺動脈狭窄 | 高血圧" ] }, { "id": "NANDO:2200062", "label_en": "Clear cell sarcoma", "label_ja": "明細胞肉腫", "yomigana": "めいさいぼうにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200062", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200766", "label_en": "D-bifunctional protein deficiency", "label_ja": "D-二頭酵素欠損症", "yomigana": "でぃーにとうこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200766", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Bile duct proliferation | Calcific stippling | Cerebellar atrophy | Cerebral dysmyelination | Cerebral hypoplasia | Cholestasis | Corpus callosum atrophy | Cortical dysplasia | Decreased muscle mass | Decreased nerve conduction velocity | Delayed cranial suture closure | Delayed skeletal maturation | Depressed nasal bridge | Dolichocephaly | Elevated circulating hepatic transaminase concentration | Epicanthus | Failure to thrive | Feeding difficulties in infancy | Fetal ascites | Frontal bossing | Gliosis | Global developmental delay | Hammertoe | Hearing impairment | Hepatic steatosis | Hepatomegaly | High forehead | High palate | Hypertelorism | Hypoplasia of the corpus callosum | Hypotonia | Large fontanelles | Long philtrum | Low-set ears | Macrocephaly | Micrognathia | Neonatal hypotonia | Neonatal onset | Nystagmus | Osteopenia | Pectus excavatum | Polyhydramnios | Polymicrogyria | Primary adrenal insufficiency | Renal cyst | Retrognathia | Seizure | Splenomegaly | Split hand | Strabismus | Talipes equinovarus | Thoracic hypoplasia | Undetectable electroretinogram | Upslanted palpebral fissure | Ventriculomegaly | Very long chain fatty acid accumulation | Visual loss" ], "symptoms_ja_list": [ "下顎後退 | 両眼隔離 | 全般性発達遅滞 | 全身性間代性強直性発作 | 内反尖足 | 内眼角贅皮 | 前頭突出", "額突出 | 原発性副腎不全 | 多小脳回 | 大きな泉門 | 大脳低形成 | 大脳髄鞘形成異常症 | 大頭 | 小脳萎縮 | 小顎 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 斜視 | 新生児筋緊張低下 | 極長鎖脂肪酸蓄積 | 槌趾 | 漏斗胸 | 点状石灰化 | 発作 | 皮質異形成 | 眼振 | 眼瞼裂斜上 | 神経活動電位の振幅減少 | 神経膠症 | 筋緊張低下 | 筋量減少 | 網膜電図 (ERG) 廃絶 | 羊水過多 | 耳介低位 | 肝トランスアミナーゼ上昇 | 肝腫 | 胆汁うっ滞 | 胆管増殖 | 胎児腹水 | 胸郭低形成 | 脂肪肝 | 脳室拡大 | 脳梁低形成 | 脳梁萎縮 | 脾腫 | 腎嚢胞 | 落ちくぼんだ鼻梁 | 裂手 | 視力喪失 | 長い人中 | 長頭 | 難聴 | 頭蓋骨縫合閉鎖遅延 | 食餌摂取障害 in infancy | 骨格骨化遅延 | 骨減少症 | 高い額 | 高口蓋" ] }, { "id": "NANDO:1200112", "label_en": "Sly syndrome, neonatal form", "label_ja": "Sly病（新生児型）", "yomigana": "すらいびょう（しんせいじがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200112", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200653", "label_en": "Menkes disease", "label_ja": "メンケス病", "yomigana": "めんけすびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200653", "notificationNumber": "169", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal carotid artery morphology | Abnormal metaphysis morphology | Abnormal palate morphology | Alopecia | Aplasia/Hypoplasia of the abdominal wall musculature | Arterial stenosis | Atypical behavior | Atypical scarring of skin | Babinski sign | Bladder diverticulum | Bowing of the long bones | Brachycephaly | Brittle hair | Chondrocalcinosis | Chorea | Cutis laxa | Death in childhood | Decreased circulating ceruloplasmin concentration | Developmental regression | Dry skin | Epileptic spasm | Exostoses | Fatigue | Feeding difficulties in infancy | Full cheeks | Gastrointestinal hemorrhage | Hernia | Hyperextensible skin | Hypertonia | Hypoglycemia | Hypopigmentation of hair | Hypopigmentation of the skin | Hypothermia | Hypotonia | Hypsarrhythmia | Infantile onset | Inguinal hernia | Intellectual disability | Intracranial hemorrhage | Intrauterine growth retardation | Joint hypermobility | Malabsorption | Mask-like facies | Metaphyseal spurs | Metaphyseal widening | Microcephaly | Micrognathia | Muscle weakness | Narrow chest | Nausea and vomiting | Osteomyelitis | Osteoporosis | Pectus excavatum | Poor head control | Prolonged neonatal jaundice | Prominent occiput | Recurrent fractures | Seizure | Sepsis | Short stature | Sparse hair | Spasticity | Spontaneous hematomas | Tarsal synostosis | Thickened skin | Umbilical hernia | Vascular dilatation | Venous insufficiency | Woolly hair | Wormian bones | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Babinski サイン | X連鎖潜性遺伝 | てんかん性スパスム | ウォルム氏骨 | ヒプスアリスミア | ヘルニア | 乾いた皮膚 | 仮面様顔貌 | 低体温 | 低血糖 | 低身長 | 分厚い皮膚 | 動脈狭窄 | 動脈瘤 | 反復性骨折 | 口蓋の異常 | 吐気と 嘔吐 | 吸収障害 | 外骨症 | 大きな頬 | 子宮内成長遅滞 | 小頭 | 小顎 | 弛緩性皮膚 | 敗血症 | 毛髪低色素 | 漏斗胸 | 狭い胸郭 | 疎な毛髪 | 疲労 | 痙性 | 発作 | 発達退行 | 皮膚低色素 | 目立つ後頭 | 知的障害 | 短頭 | 禿頭 | 筋緊張亢進 | 筋緊張低下 | 筋虚弱 | 羊毛様毛髪 | 胃腸出血 | 脆い毛髪 | 腹壁筋無形成/低形成 | 膀胱憩室 | 臍ヘルニア | 自然血管腫 | 舞踏病 | 血清セルロプラスミン減少 | 行動異常 | 足根骨癒合症 | 軟骨石灰化症 | 過伸展皮膚 | 遷延性新生児黄疸 | 長管骨湾曲 | 関節過動 | 静脈不全 | 非典型的皮膚瘢痕 | 頭蓋内出血 | 頸動脈の異常 | 頸定不全 | 食餌摂取障害 in infancy | 骨幹端の異常 | 骨幹端拡大 | 骨幹端棘 | 骨粗鬆症 | 骨髄炎 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201102", "label_en": "Presymptomatic methylmalonic acidemia", "label_ja": "発症前型メチルマロン酸血症", "yomigana": "はっしょうまえがためちるまろんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201102", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200428", "label_en": "Relapsing polychondritis", "label_ja": "再発性多発軟骨炎", "yomigana": "さいはつせいたはつなんこつえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200428", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100154", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal endocardium morphology | Abnormal pattern of respiration | Alopecia | Anteriorly placed anus | Antinuclear antibody positivity | Arthralgia | Arthritis | Ataxia | Atelectasis | Biparietal narrowing | Cataract | Chondritis | Chondritis of pinna | Conjunctivitis | Cough | Cranial nerve paralysis | Dyspnea | Episcleritis | Erythema | Gangrene | Glomerulopathy | Hematuria | Hepatitis | Hoarse voice | Inflammatory abnormality of the eye | Keratitis | Large vessel vasculitis | Laryngomalacia | Limitation of joint mobility | Loss of voice | Macule | Myocarditis | Nausea and vomiting | Pericarditis | Proptosis | Proteinuria | Purpura | Recurrent aphthous stomatitis | Renal insufficiency | Rheumatoid factor positive | Scleritis | Sensorineural hearing impairment | Thrombophlebitis | Tinnitus | Tracheobronchomalacia | Uveitis | Vascular dilatation | Venous thrombosis | Vertigo" ], "symptoms_ja_list": [ "ブドウ膜炎 | リウマチ因子陽性 | 上強膜炎 | 両頭頂径狭小 | 前方位肛門 | 動脈瘤 | 反復性アフタ性口内炎 | 吐気と 嘔吐 | 呼吸パターンの異常 | 呼吸困難 | 喉頭軟化症 | 嗄声 | 壊疽 | 声喪失 | 外層 | 大動脈弁の異常 | 大血管血管炎 | 心内膜の異常 | 心外膜炎 | 心筋炎 | 感音難聴 | 抗核抗体陽性 | 斑 | 気管気管支軟化症 | 無気肺 | 白内障 | 眩暈 | 眼の炎症性異常 | 眼球突出 | 禿頭 | 糸球体症 | 紅斑 | 紫斑 | 結膜炎 | 耳介軟骨炎 | 耳鳴 | 肝炎 | 胸膜炎 | 脳神経麻痺 | 腎不全 | 蛋白尿 | 血尿 | 血栓性静脈炎 | 角膜炎 | 軟骨炎 | 運動失調 | 関節炎 | 関節痛 | 関節運動制限 | 静脈血栓症" ] }, { "id": "NANDO:1200285", "label_en": "Idiopathic dilated cardiomyopathy", "label_ja": "特発性拡張型心筋症", "yomigana": "とくはつせいかくちょうがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200285", "notificationNumber": "57", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201125", "label_en": "Acute-onset glutaric acidemia type 1", "label_ja": "急性発症型グルタル酸血症1型", "yomigana": "きゅうせいはっしょうがたぐるたるさんけっしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201125", "notificationNumber": "97", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100005", "label_en": "Histiocytosis", "label_ja": "組織球症", "yomigana": "そしききゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100005", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201276", "label_en": "Idiopathic aplastic anemia", "label_ja": "特発性再生不良性貧血", "yomigana": "とくはつせいさいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2201276", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100201", "symptoms_en_list": [ "Anemia | Bone marrow hypocellularity | Decreased total neutrophil count | Epistaxis | Gingival bleeding | Pancytopenia | Recurrent infections | Reticulocytopenia | Retinal hemorrhage | Thrombocytopenia" ], "symptoms_ja_list": [ "反復性感染症 | 好中球減少症 | 歯肉出血 | 汎血球減少症 | 網状赤血球減少症 | 網膜出血 | 血小板減少 | 貧血 | 骨髄細胞数増多 | 鼻出血" ] }, { "id": "NANDO:2200844", "label_en": "Apert syndrome", "label_ja": "アペール症候群", "yomigana": "あぺーるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200844", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal morphology of the limbic system | Abnormal semicircular canal morphology | Abnormality of the genitourinary system | Absent septum pellucidum | Acne | Acrobrachycephaly | Agenesis of corpus callosum | Airway obstruction | Anisometropia | Anomalous tracheal cartilage | Anteverted nares | Aplasia/Hypoplasia of the thumb | Arachnoid cyst | Autosomal dominant inheritance | Bifid uvula | Brachycephaly | Brachyturricephaly | Broad distal hallux | Broad distal phalanx of the thumb | Broad forehead | Broad hallux | Broad thumb | Cerebellar hypoplasia | Cervical C5/C6 vertebrae fusion | Chiari malformation | Chiari type I malformation | Choanal atresia | Choanal stenosis | Chronic otitis media | Cleft palate | Cloverleaf skull | Conductive hearing impairment | Congenital onset | Convex nasal ridge | Corneal erosion | Coronal craniosynostosis | Craniosynostosis | Cryptorchidism | Cutaneous finger syndactyly | Cutaneous syndactyly | Cutaneous syndactyly of toes | Delayed cranial suture closure | Delayed epiphyseal ossification | Delayed eruption of teeth | Dental crowding | Dental malocclusion | Depressed nasal bridge | Downslanted palpebral fissures | Ectopic anus | Esophageal atresia | Facial asymmetry | Feeding difficulties in infancy | Finger syndactyly | Flat face | Frontal bossing | Growth abnormality | Hearing impairment | High forehead | High palate | Humeroradial synostosis | Hydrocephalus | Hydronephrosis | Hyperhidrosis | Hypertelorism | Hypertension | Hypoplasia of the maxilla | Intellectual disability | Lambdoidal craniosynostosis | Large fontanelles | Limited elbow movement | Low-set ears | Malar flattening | Mandibular prognathia | Megalencephaly | Micromelia | Midface retrusion | Myopia | Nail dystrophy | Narrow palate | Optic atrophy | Otitis media | Overriding aorta | Pectus carinatum | Polyhydramnios | Postaxial hand polydactyly | Posterior fossa cyst | Posteriorly rotated ears | Preaxial hand polydactyly | Prominent forehead | Proptosis | Pyloric stenosis | Respiratory insufficiency | Rhizomelic arm shortening | Sagittal craniosynostosis | Sensorineural hearing impairment | Shallow orbits | Strabismus | Syndactyly | Synostosis of carpal bones | Thin upper lip vermilion | Toe syndactyly | Vaginal atresia | Ventricular septal defect | Ventriculomegaly | Vertebral segmentation defect | Visual impairment | Wide intermamillary distance" ], "symptoms_ja_list": [ "?瘡 | Arnold-Chiari 奇形 | I 型Arnold-Chiari 奇形 | くも膜嚢胞 | はと胸 | クローバー型頭蓋骨 | 三半規管の形態異常 | 上向きの鼻孔 | 上腕骨橈骨癒合 | 上顎低形成 | 下顎突出 | 不同視 | 不正咬合 | 両眼隔離 | 中耳炎 | 二分した口蓋垂 | 人字縫合早期癒合 | 伝音難聴 | 停留精巣 | 先端短頭 | 冠状縫合早期癒合 | 凸の鼻梁 | 前頭突出", "額突出 | 口蓋裂 | 合指症 | 合指趾症 | 合趾症 | 呼吸不全 | 四肢近位短縮性腕短縮 | 多汗 | 大きな泉門 | 大動脈騎乗 | 大脳辺縁系奇形 | 小肢症 | 小脳低形成 | 巨大脳症 | 常染色体顕性遺伝 | 幅広い乳頭間距離 | 幅広い母指 | 幅広い母指末節骨 | 幅広い母趾 | 幅広い遠位母趾 | 幅広い額 | 平坦な頬 | 平坦な顔 | 幽門狭窄 | 後頭窩嚢胞 | 後鼻孔狭窄 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 感音難聴 | 慢性中耳炎 | 成長異常 | 手根骨癒合症 | 斜視 | 歯混雑 | 歯萠出遅延 | 母指無形成/低形成 | 気管軟骨異常 | 水腎症 | 水頭症 | 泌尿生殖器異常 | 浅い眼窩 | 爪ジストロフィー | 狭い口蓋 | 異所性肛門 | 皮膚性合指症 | 皮膚性合趾症 | 目立つ額 | 眼球突出 | 眼瞼裂斜下 | 矢状縫合早期癒合 | 知的障害 | 短塔状頭 | 短頭 | 羊水過多 | 耳介低位 | 耳介後方回転 | 肘運動制限 | 脊椎分節異常 | 脳室拡大 | 脳梁無発生 of | 膣閉鎖 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 視力障害 | 視神経萎縮 | 角膜びらん | 軸前性多指症 | 軸後性多指症 | 近視 | 透明中隔欠損 | 閉塞性肺疾患 | 難聴 | 頚椎癒合 (C5/C6) | 頭蓋合骨症 | 頭蓋骨縫合閉鎖遅延 | 顔面中部後退 | 顔面非対称 | 食道閉鎖 | 食餌摂取障害 in infancy | 骨端骨化遅延 | 高い額 | 高口蓋 | 高血圧" ] }, { "id": "NANDO:1200599", "label_en": "PCDH19-related syndrome", "label_ja": "PCDH19関連症候群", "yomigana": "ぴーしーでぃーえいち19かんれんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200599", "notificationNumber": "152", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Aggressive behavior | Atonic seizure | Attention deficit hyperactivity disorder | Autistic behavior | Bilateral tonic-clonic seizure | Childhood onset | Developmental regression | Focal hemiclonic seizure | Focal-onset seizure | Generalized myoclonic seizure | Generalized non-motor (absence) seizure | Global developmental delay | Infantile onset | Intellectual disability | Moderate intellectual disability | Psychosis | Status epilepticus | Ventriculomegaly | X-linked inheritance" ], "symptoms_ja_list": [ "X連鎖遺伝 | てんかん重積 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 攻撃的行動 | 欠神発作 | 注意力欠陥多動性疾患 | 焦点性発作 | 片側間代性発作 | 発達退行 | 知的障害 | 知的障害", "中道動脈瘤 | 精神病 | 脱力発作 | 脳室拡大 | 自閉性行動" ] }, { "id": "NANDO:1200177", "label_en": "Myoclonus epilepsy associated with ragged-red fibers", "label_ja": "赤色ぼろ線維・ミオクローヌスてんかん症候群", "yomigana": "せきしょくぼろせんい・みおくろーぬすてんかんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200177", "notificationNumber": "21", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of movement | Ataxia | Cognitive impairment | EMG abnormality | Generalized myoclonic seizure | Increased circulating lactate concentration | Increased circulating pyruvate concentration | Mitochondrial inheritance | Multiple lipomas | Muscle weakness | Myoclonus | Myopathy | Optic atrophy | Ragged-red muscle fibers | Seizure | Sensorineural hearing impairment | Short stature | Spasticity" ], "symptoms_ja_list": [ "Ragged-red 筋線維 | ミオクローヌス | ミオパチー | ミトコンドリア遺伝 | 低身長 | 全身性ミオクローヌス発作 | 多発性脂肪腫 | 感音難聴 | 痙性 | 発作 | 筋虚弱 | 筋電図異常 | 血清ピルビン酸増加 | 血清乳酸増加 | 視神経萎縮 | 認知障害 | 運動の異常 | 運動失調" ] }, { "id": "NANDO:2100168", "label_en": "Disorder of purine and pyrimidine metabolism", "label_ja": "プリンピリミジン代謝異常症", "yomigana": "ぷりんぴりみじんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100168", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200059", "label_en": "Desmoplastic small round cell tumors", "label_ja": "線維形成性小円形細胞腫瘍", "yomigana": "せんいけいせいせいしょうえんけいさいぼうしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200059", "notificationNumber": "26", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormal peritoneum morphology | Anemia | Ascites | Cachexia | Hepatomegaly | Ileus | Lymphadenopathy | Mediastinal lymphadenopathy | Nausea and vomiting | Neoplasm of the central nervous system | Neoplasm of the lung | Neoplasm of the pancreas | Ovarian neoplasm | Sarcoma | Testicular neoplasm | Weight loss" ], "symptoms_ja_list": [ "イレウス | リンパ節腫大 | 中枢神経新生物 | 体重喪失 | 卵巣新生物 | 吐気と 嘔吐 | 悪液質 (カヘキシー) | 精巣新生物 | 縦隔リンパ節腫大 | 肉腫 | 肝腫 | 肺新生物 | 腹水 | 腹痛 | 腹膜の異常 | 腹部膨満 | 膵新生物 | 貧血" ] }, { "id": "NANDO:2100272", "label_en": "Crigler-Najjar syndrome", "label_ja": "クリグラー・ナジャー症候群", "yomigana": "くりぐらー・なじゃーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100272", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200682", "label_en": "1p36 deletion syndrome", "label_ja": "1ｐ36欠失症候群", "yomigana": "1ぴー36けっしつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200682", "notificationNumber": "197", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "11 pairs of ribs | Abducens palsy | Abnormal blistering of the skin | Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal external genitalia morphology | Abnormal eyebrow morphology | Abnormal female external genitalia morphology | Abnormal heart valve morphology | Abnormal intestine morphology | Abnormal lung lobation | Abnormal speech pattern | Abnormality of the anus | Abnormality of the hairline | Abnormality of the immune system | Abnormality of the kidney | Abnormality of the liver | Abnormality of the neck | Abnormality of the spleen | Abnormality of vision | Absent speech | Agenesis of corpus callosum | Aggressive behavior | Annular pancreas | Aortic arch aneurysm | Aortic root aneurysm | Asymmetry of the ears | Atrial septal defect | Atypical behavior | Autism | Bicuspid aortic valve | Bifid ribs | Bifid uvula | Blepharophimosis | Brachycephaly | Brachydactyly | Camptodactyly | Camptodactyly of finger | Cataract | Cerebral cortical atrophy | Cleft upper lip | Clinodactyly of the 5th finger | Conductive hearing impairment | Congenital hypothyroidism | Constipation | Cranial nerve paralysis | Cryptorchidism | Deeply set eye | Delayed CNS myelination | Delayed closure of the anterior fontanelle | Delayed cranial suture closure | Delayed skeletal maturation | Delayed speech and language development | Depressed nasal bridge | Depressed nasal ridge | Dilated cardiomyopathy | Downslanted palpebral fissures | Dysphagia | EEG abnormality | Ebstein anomaly of the tricuspid valve | Ectopic kidney | Epicanthus | Epileptic spasm | Failure to thrive | Feeding difficulties in infancy | Foot polydactyly | Frontal bossing | Gait disturbance | Gastroesophageal reflux | Generalized hirsutism | Global developmental delay | Growth delay | Hearing impairment | Hemiplegia/hemiparesis | Hepatic steatosis | High hypermetropia | High palate | Hip dysplasia | Horizontal eyebrow | Hydrocephalus | Hydronephrosis | Hypermetropia | Hypertelorism | Hypogonadism | Hypoplasia of penis | Hypoplasia of the corpus callosum | Hypospadias | Hypothyroidism | Hypotonia | Hypsarrhythmia | Infantile spasms | Intellectual disability | Joint stiffness | Kyphosis | Lateral ventricle dilatation | Leukoencephalopathy | Long philtrum | Low-set ears | Lower limb asymmetry | Macule | Malar flattening | Metatarsus adductus | Microcephaly | Microtia | Midface retrusion | Motor stereotypy | Myopathy | Myopia | Narrow mouth | Neonatal hypotonia | Neuroblastoma | Noncompaction cardiomyopathy | Nystagmus | Obesity | Ocular albinism | Oppositional defiant disorder | Optic atrophy | Optic disc coloboma | Optic disc pallor | Orofacial cleft | Pachygyria | Patent ductus arteriosus | Patent foramen ovale | Pes cavus | Pointed chin | Polymicrogyria | Polyphagia | Poor speech | Posteriorly rotated ears | Prominent forehead | Pyloric stenosis | Reduced social responsiveness | Renal cyst | Rib fusion | Scoliosis | Seizure | Self-injurious behavior | Self-mutilation | Sensorineural hearing impairment | Short 5th finger | Short foot | Short stature | Spinal canal stenosis | Sporadic | Strabismus | Submucous cleft hard palate | Synophrys | Telangiectasia | Tetralogy of Fallot | Thickened helices | Upslanted palpebral fissure | Ventricular septal defect | Ventriculomegaly | Visual impairment | Wide anterior fontanel | Wide nasal bridge" ], "symptoms_ja_list": [ "11 対肋骨 | Fallot 四徴症 | てんかん性スパスム | ヒプスアリスミア | ミオパチー | 三尖弁のEbstein 奇形 | 上口唇裂 | 下肢非対称 | 両眼隔離 | 中枢神経髄鞘形成遅延 | 乳児スパスム | 二分した口蓋垂 | 二分した肋骨 | 二弁性大動脈弁 | 伝音難聴 | 低身長 | 便秘 | 停留精巣 | 側弯 | 側脳室拡大 | 先天性甲状腺機能低下症 | 免疫系の異常 | 全般性発達遅滞 | 全身性多毛 | 内眼角贅皮 | 内転中足骨 | 凹足 | 分厚い耳輪 | 前頭突出", "額突出 | 動脈管開存症 | 卵円孔開存 | 口腔裂 | 嚥下障害 | 外性器異常 | 多小脳回 | 多趾症 | 大動脈基部拡大 | 大動脈弓拡張 | 大泉門閉鎖遅延 | 大脳皮質萎縮 | 女性外性器異常 | 孤発性 | 小耳 | 小頭 | 尖った下顎 | 尿道下裂 | 屈指 | 常同行動 | 幅広い大泉門 | 幅広い鼻梁 | 平坦な頬 | 幽門狭窄 | 後弯 | 循環器系の形態異常 | 心中隔 | 心室中隔欠損 | 心弁の異常 | 心房中隔欠損 | 性腺機能低下症 | 感音難聴 | 成長遅滞 | 成長障害 (成長不全) | 拡張型心筋症 | 攻撃的行動 | 敵対的反抗疾患 | 斑 | 斜視 | 新生児筋緊張低下 | 歩行障害 | 毛細血管拡張 | 毛髪線の異常 | 水平眉毛 | 水腎症 | 水頭症 | 片麻痺/片側不全麻痺 | 狭い口 | 環状膵 | 甲状腺機能低下症 | 異常な皮膚水泡 | 異所性腎 | 発作 | 発語および言語発達遅延 | 発語不全 | 発語欠損 | 白内障 | 白質脳症 | 目立つ額 | 眉毛の異常 | 眼振 | 眼白子症 | 眼瞼裂斜上 | 眼瞼裂斜下 | 眼瞼裂狭小 | 知的障害 | 短い第5指 | 短い足 | 短指症候群 | 短頭 | 社会的相互関係障害 | 神経学的発語障害 | 神経芽腫 | 第5指弯指 | 第VI脳神経麻痺 | 筋緊張低下 | 粘膜下硬口蓋裂 | 緻密化障害性心筋症 | 耳介低位 | 耳介後方回転 | 耳非対称 | 肋骨癒合 | 肛門の異常 | 肝の異常 | 股関節異形成 | 肥満 | 肺分葉の異常 | 胃食道逆流 | 脂肪肝 | 脊椎管狭窄 | 脳回肥厚 | 脳室拡大 | 脳梁低形成 | 脳梁無発生 of | 脳波異常 | 脳神経麻痺 | 脾の異常 | 腎嚢胞 | 腎異常 | 腸の異常 | 自傷行動 | 自己切断 | 自閉症 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 行動異常 | 視力障害 | 視神経コロボーマ | 視神経杯蒼白 | 視神経萎縮 | 視覚の異常 | 近視 | 連続眉毛 | 過食症 | 遠視 | 長い人中 | 関節拘縮 | 陰茎低形成 | 難聴 | 頭蓋骨縫合閉鎖遅延 | 頸部の異常 | 顔面中部後退 | 食餌摂取障害 in infancy | 骨格骨化遅延 | 高口蓋 | 高度遠視" ] }, { "id": "NANDO:2200900", "label_en": "Rasmussen's encephalitis", "label_ja": "ラスムッセン脳炎", "yomigana": "らすむっせんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200900", "notificationNumber": "104", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100246", "symptoms_en_list": [ "Abnormal basal ganglia morphology | Abnormal cerebrospinal fluid morphology | Antinuclear antibody positivity | Aphasia | Attention deficit hyperactivity disorder | Atypical behavior | Autoimmunity | Bilateral tonic-clonic seizure with focal onset | Cerebral cortical hemiatrophy | Chronic decreased circulating IgA concentration | Cognitive impairment | Dysarthria | Dyskinesia | EEG with focal epileptiform discharges | EEG with focal sharp slow waves | EEG with focal spikes | Emotional lability | Epilepsia partialis continua | Epileptic spasm | Focal aware seizure | Focal impaired awareness seizure | Focal motor seizure | Focal sensory seizure with somatosensory features | Focal-onset seizure | Functional motor deficit | Generalized tonic seizure | Global brain atrophy | Hemiparesis | Hyperactivity | Inability to walk | Increased CSF protein concentration | Interictal epileptiform activity | Involuntary movements | Irritability | Memory impairment | Reduced brain N-acetyl aspartate level by MRS | Specific learning disability | Subcortical cerebral atrophy | Ventriculomegaly | Visual loss" ], "symptoms_ja_list": [ "MRSによる脳 N-acetyl aspartate 値現象 | てんかん型脳波放電 | てんかん性スパスム | ジスキネジア | 不随意運動 | 両側性けいれん発作 | 全免疫グロブリンA欠乏症 | 全般性脳萎縮 | 全身性間代性発作 | 基底核の異常 | 多動 | 大脳皮質片側i萎縮 | 失語症 | 情動不安定 | 意識または覚醒障害を伴う焦点性発作 | 意識または覚醒障害を伴わない焦点性発作 | 抗核抗体陽性 | 持続性部分てんかん | 構音障害 | 機能的筋異常 | 歩行不能 | 注意力欠陥多動性疾患 | 焦点性てんかん放電を伴う脳波 | 焦点性棘徐波を伴う脳波 | 焦点性棘波を伴う脳波 | 焦点性発作 | 焦点性運動発作 | 片側不全麻痺 | 特異的学習障害 | 皮質下 大脳萎縮 | 脳室拡大 | 自己免疫 | 行動異常 | 被刺激性 | 視力喪失 | 記憶障害 | 認知障害 | 身体感覚性前兆 | 髄液の異常 | 髄液タンパクの増加" ] }, { "id": "NANDO:2200696", "label_en": "Adenosine deaminase deficiency", "label_ja": "アデノシンデアミナーゼ欠損症", "yomigana": "あでのしんであみなーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200696", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100203", "symptoms_en_list": [ "Abnormal pelvic girdle bone morphology | Abnormality of humoral immunity | Absence of lymph node germinal center | Absent specific antibody response | Allergy | Anterior rib cupping | Aplasia of the thymus | Asthma | Autoimmune hemolytic anemia | Autoimmune thrombocytopenia | Autoimmunity | Autosomal recessive inheritance | B-cell lymphoma | Chronic diarrhea | Decreased circulating IgA concentration | Decreased circulating IgG2 concentration | Decreased circulating IgM concentration | Decreased total B cell count | Decreased total T cell count | Decreased total lymphocyte count | Diarrhea | Diffuse mesangial sclerosis | Failure to thrive | Hepatomegaly | Increased circulating IgE concentration | Increased total eosinophil count | Infantile onset | Inflammatory abnormality of the skin | Motor delay | Neonatal onset | Platyspondyly | Pneumonia | Pulmonic regurgitation | Recurrent bacterial infections | Recurrent fever | Recurrent fungal infections | Recurrent mucocutaneous candidiasis | Recurrent opportunistic infections | Recurrent otitis media | Recurrent pneumonia | Recurrent upper respiratory tract infections | Recurrent viral infections | Severe combined immunodeficiency | Sinusitis | Skin rash | Splenomegaly | Typified by somatic mosaicism | obsolete Absent cellular immunity" ], "symptoms_ja_list": [ "B リンパ球減少症 | B-細胞リンパ腫 | IgA欠乏症 | IgE 値増加 | IgM欠乏症 | T リンパ球減少症 | びまん性メサンギウム硬化症 | アレルギー | リンパ球減少症 | リンパ節胚中心の異常 | 下痢 | 体細胞モザイク | 免疫グロブリン IgG2欠乏症 | 前方肋骨カッピング | 副鼻腔炎 | 反復性ウイルス感染症 | 反復性カビ感染症 | 反復性上気道感染症 | 反復性中耳炎 | 反復性日和見感染症 | 反復性細菌感染症 | 反復性肺炎 | 喘息 | 好酸球増多症 | 常染色体潜性遺伝 | 慢性下痢 | 慢性粘膜皮膚カンジダ症 | 成長障害 (成長不全) | 扁平脊椎 | 液性免疫の異常 | 特異的抗体反応の欠損 | 発熱エピソード | 皮膚の炎症性異常 | 皮膚発疹 | 細胞免疫の欠損 | 肝腫 | 肺不全 | 肺炎 | 胸腺無形成 | 脾腫 | 自己免疫 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 運動発達遅滞 | 重症複合型免疫不全 | 骨盤帯骨の形態異常" ] }, { "id": "NANDO:2200765", "label_en": "Other defects in innate immunity", "label_ja": "44から47までに掲げるもののほか、自然免疫異常", "yomigana": "44から47までにかかげるもののほか、しぜんめんえきいじょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200765", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200324", "label_en": "Omenn syndrome", "label_ja": "オーメン症候群", "yomigana": "おーめんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200324", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal lymphocyte morphology | Abnormal metaphysis morphology | Alopecia | Anemia | Aplasia/Hypoplasia of the eyebrow | Autoimmunity | Autosomal recessive inheritance | Chronic diarrhea | Decreased total B cell count | Desquamation of skin soon after birth | Diarrhea | Dry skin | Edema | Erythroderma | Failure to thrive | Fever | Hepatomegaly | Hypoplasia of the thymus | Hypoproteinemia | Hypothyroidism | Increased total eosinophil count | Increased total leukocyte count | Lymphadenopathy | Lymphoma | Nephrotic syndrome | Pneumonia | Pruritus | Recurrent bacterial infections | Recurrent fungal infections | Recurrent viral infections | Sepsis | Severe combined immunodeficiency | Short toe | Splenomegaly | Thickened skin | Thrombocytopenia | Thyroiditis" ], "symptoms_ja_list": [ "B リンパ球減少症 | ネフローゼ症候群 | リンパ球の異常 | リンパ節腫大 | リンパ腫 | 下痢 | 乾いた皮膚 | 低タンパク血症 | 分厚い皮膚 | 反復性ウイルス感染症 | 反復性カビ感染症 | 反復性細菌感染症 | 好酸球増多症 | 常染色体潜性遺伝 | 慢性下痢 | 成長障害 (成長不全) | 掻痒 | 敗血症 | 浮腫 | 生後すぐの皮膚落屑 | 甲状腺機能低下症 | 甲状腺炎 | 発熱 | 白血球増多症 | 眉毛の無形成/低形成 | 短い趾 | 禿頭 | 紅皮症 | 肝腫 | 肺炎 | 胸腺低形成 | 脾腫 | 自己免疫 | 血小板減少 | 貧血 | 重症複合型免疫不全 | 骨幹端の異常" ] }, { "id": "NANDO:1200573", "label_en": "Focal cortical dysplasia type 3d", "label_ja": "限局性皮質異形成タイプ3d", "yomigana": "げんきょくせいひしついけいせいたいぷ3でぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200573", "notificationNumber": "137", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200503", "label_en": "Hereditary hypokalemic periodic paralysis", "label_ja": "遺伝性低カリウム性周期性四肢麻痺", "yomigana": "いでんせいていかりうむせいしゅうきせいししまひ", "url": "http://nanbyodata.jp/ontology/NANDO_1200503", "notificationNumber": "115", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal muscle fiber morphology | Adrenocortical adenoma | Arrhythmia | Diminished deep tendon reflex | EMG abnormality | Episodic flaccid weakness | Episodic hypokalemia | Exercise-induced muscle fatigue | Fatty replacement of skeletal muscle | Impaired myocardial contractility | Increased intramyocellular lipid droplets | Late-onset proximal muscle weakness | Mildly elevated creatine kinase | Muscle spasm | Myotonia | Pain | Paralysis | Periodic hypokalemic paresis | Postprandial hyperglycemia | Respiratory insufficiency due to muscle weakness | Respiratory paralysis" ], "symptoms_ja_list": [ "creatine phosphokinase の軽度上昇 | ミオトニア | 不整脈 | 低カリウム血症エピソード | 副腎皮質腺腫 | 周期性低カルシウム血症性不全麻痺 | 呼吸麻痺 | 弛緩性虚弱エピソード | 心筋収縮障害 | 疼痛 | 筋けいれん | 筋細胞内脂肪滴増加 | 筋線維の異常 | 筋虚弱による呼吸不全 | 筋電図異常 | 腱反射減少 | 遅発性近位筋虚弱 | 運動誘発性筋疲労 | 食後高血糖 | 骨格筋脂肪浸潤 | 麻痺" ] }, { "id": "NANDO:2200968", "label_en": "Marfan syndrome", "label_ja": "マルファン症候群", "yomigana": "まるふぁんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200968", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal left ventricular function | Abnormal zygomatic bone morphology | Aortic aneurysm | Aortic dissection | Aortic regurgitation | Aortic root aneurysm | Aortic tortuosity | Arachnodactyly | Arterial dissection | Arthralgia/arthritis | Ascending tubular aorta aneurysm | Astigmatism | Attention deficit hyperactivity disorder | Autosomal dominant inheritance | Bicuspid aortic valve | Cachexia | Camptodactyly | Cataract | Chronic fatigue | Cleft palate | Congestive heart failure | Decreased muscle mass | Deeply set eye | Dental crowding | Dilatation of an abdominal artery | Disproportionate tall stature | Dolichocephaly | Downslanted palpebral fissures | Dural ectasia | Ectopia lentis | Emphysema | Equinus calcaneus | Esotropia | Exotropia | Flat cornea | Flexion contracture | Genu recurvatum | Glaucoma | Hammertoe | Hemoptysis | High palate | High", "narrow palate | Hypoplasia of the iris | Hypotonia | Incisional hernia | Increased axial length of the globe | Inguinal hernia | Insomnia | Joint hypermobility | Kyphoscoliosis | Kyphosis | Lens luxation | Lens subluxation | Limited elbow extension | Limited elbow movement | Long face | Malar flattening | Medial rotation of the medial malleolus | Meningocele | Metatarsus adductus | Micrognathia | Mitral annular calcification | Mitral regurgitation | Mitral valve calcification | Mitral valve prolapse | Myalgia | Myopia | Narrow face | Narrow foot | Narrow palate | Open bite | Osteopenia | Osteoporosis | Pectus carinatum | Pectus excavatum | Pes cavus | Pes planus | Pneumothorax | Premature osteoarthritis | Protrusio acetabuli | Pulmonary artery dilatation | Reduced bone mineral density | Reduced subcutaneous adipose tissue | Reduced upper to lower segment ratio | Retinal detachment | Retrognathia | Scoliosis | Skeletal muscle atrophy | Sleep apnea | Sleep disturbance | Slender build | Spondylolisthesis | Spontaneous pneumothorax | Strabismus | Striae distensae | Talipes | Tall stature | Tricuspid regurgitation | Tricuspid valve prolapse | Ventricular tachycardia | Visual impairment" ], "symptoms_ja_list": [ "うっ血性心不全 | くも指 | はと胸 | 三尖弁逆流 | 三尖弁逸脱 | 上節/下節比の減少 | 上行大動脈拡張 | 下顎後退 | 不均衡型高身長 | 不眠 | 乱視 | 二弁性大動脈弁 | 伸展線 | 側弯 | 僧帽弁石灰化 | 僧帽弁逆流 | 僧帽弁逸脱 | 内斜視 | 内転中足骨 | 内顆の内方回転 | 凹足 | 動脈解離 | 反張膝 | 口蓋裂 | 喀血 | 外斜視 | 大動脈基部拡大 | 大動脈瘤 | 大動脈蛇行性 | 大動脈解離 | 大動脈逆流 | 寛骨臼突出 | 小顎 | 尖足 | 屈指 | 屈曲拘縮 | 左室機能障害 | 常染色体顕性遺伝 | 平坦な角膜 | 平坦な頬 | 後側弯 | 後弯 | 心室性 頻拍 | 悪液質 (カヘキシー) | 慢性疲労 | 扁平足 | 斜視 | 早発性僧帽弁輪部石灰化 | 早発性骨関節炎 | 槌趾 | 歯混雑 | 気胸 | 水晶体 亜脱臼 | 水晶体脱臼 | 注意力欠陥多動性疾患 | 漏斗胸 | 狭い口蓋 | 狭い足 | 狭い顔 | 異所性水晶体 | 瘢痕ヘルニア | 白内障 | 皮下脂肪組織減少 | 眼瞼裂斜下 | 睡眠時無呼吸 | 睡眠障害 | 硬膜拡張 | 筋痛 | 筋緊張低下 | 筋萎縮 | 筋量減少 | 細い体型 | 網膜剥離 | 緑内障 | 肘伸展制限 | 肘運動制限 | 肺動脈拡張 | 肺気腫 | 脊椎すべり症 | 腹大動脈瘤 | 自然気胸 | 落ちくぼんだ眼 | 虹彩低形成 | 視力障害 | 踵骨尖足 | 軸性眼球長増加 | 近視 | 長い顔 | 長頭 | 開放咬合 | 関節痛/関節炎 | 関節過動 | 顴骨の異常 | 骨ミネラル濃度減少 | 骨減少症 | 骨粗鬆症 | 髄膜瘤 | 高口蓋 | 高狭口蓋 | 高身長 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200795", "label_en": "Methylmalonic acidemia cblA type", "label_ja": "コバラミン代謝異常 cblA", "yomigana": "こばらみんたいしゃいじょう しーびーえるえー", "url": "http://nanbyodata.jp/ontology/NANDO_1200795", "notificationNumber": "246", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Anemia | Autosomal recessive inheritance | Brisk reflexes | Coma | Decreased circulating adenosylcobalamin concentration | Decreased methylmalonyl-CoA mutase activity | Decreased total neutrophil count | Dehydration | Failure to thrive | Feeding difficulties in infancy | Generalized hypotonia | Global developmental delay | Hepatomegaly | Hyperammonemia | Hyperglycinemia | Hypotonia | Infantile onset | Ketonuria | Ketosis | Lethargy | Metabolic acidosis | Methylmalonic acidemia | Methylmalonic aciduria | Pancytopenia | Respiratory distress | Seizure | Thrombocytopenia | Tremor | Vomiting" ], "symptoms_ja_list": [ "methylmalonyl-CoA mutase 活性の減少 | アデノシルコバラミンの減少 | ケトン尿 | ケトン症 | メチルマロン酸尿 | メチルマロン酸血症 | 代謝性アシドーシス | 全般性発達遅滞 | 全身性筋緊張低下 | 反射活発 | 呼吸窮迫 | 嘔吐 | 好中球減少症 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 振戦 | 昏睡 | 汎血球減少症 | 無気力 | 発作 | 筋緊張低下 | 肝腫 | 脱水 | 血小板減少 | 貧血 | 食餌摂取障害 in infancy | 高アンモニア血症 | 高グリシン血症" ] }, { "id": "NANDO:2200033", "label_en": "Other histiocytosis", "label_ja": "24及び25に掲げるもののほか、組織球症", "yomigana": "24および25にかかげるもののほか、そしききゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200033", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200568", "label_en": "Focal cortical dysplasia type 2a", "label_ja": "限局性皮質異形成タイプ2a", "yomigana": "げんきょくせいひしついけいせいたいぷ2えー", "url": "http://nanbyodata.jp/ontology/NANDO_1200568", "notificationNumber": "137", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100259", "label_en": "Inflammatory bowel disease", "label_ja": "炎症性腸疾患", "yomigana": "えんしょうせいちょうしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100259", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201431", "label_en": "Spinal muscular atrophy type II", "label_ja": "脊髄性筋萎縮症II型", "yomigana": "せきずいせいきんいしゅくしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201431", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100231", "symptoms_en_list": [ "Autosomal recessive inheritance | Degeneration of anterior horn cells | EMG abnormality | Hand tremor | Muscle weakness | Recurrent respiratory infections | Skeletal muscle atrophy | Spinal muscular atrophy | Tongue fasciculations" ], "symptoms_ja_list": [ "前角細胞変性 | 反復性呼吸器感染症 | 常染色体潜性遺伝 | 手振戦 | 筋萎縮 | 筋虚弱 | 筋電図異常 | 脊髄性筋萎縮 | 舌線維束性収縮" ] }, { "id": "NANDO:2200632", "label_en": "Classic hereditary xerocytosis", "label_ja": "Classic hereditary Xerocytosis", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_2200632", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200609", "label_en": "Congenital ichthyosis", "label_ja": "先天性魚鱗癬", "yomigana": "せんてんせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200609", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200936", "label_en": "Congenital hepatic fibrosis", "label_ja": "先天性肝線維症", "yomigana": "せんてんせいかんせんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200936", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100268", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100260", "label_en": "Autoimmune enteropathy (including IPEX syndrome)", "label_ja": "自己免疫性腸症（IPEX症候群を含む。）", "yomigana": "じこめんえきせいちょうしょう（あいぺっくすしょうこうぐんをふくむ。）", "url": "http://nanbyodata.jp/ontology/NANDO_2100260", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100259", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201231", "label_en": "Adult-onset Pompe disease", "label_ja": "成人型ポンペ病", "yomigana": "せいじんがたぽんぺびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201231", "notificationNumber": "126", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200246", "label_en": "Stenosis or atresia of coronary artery", "label_ja": "冠動脈狭窄症", "yomigana": "かんどうみゃくきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200246", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100069", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201015", "label_en": "Vascular Behçet's Disease", "label_ja": "血管型ベーチェット病", "yomigana": "けっかんがたべーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201015", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200892", "label_en": "Congenital toxoplasmosis", "label_ja": "先天性トキソプラズマ感染症", "yomigana": "せんてんせいときそぷらずまかんせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200892", "notificationNumber": "45", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100243", "symptoms_en_list": [ "Abnormal retinal pigmentation | Anemia | Ascites | Cardiomegaly | Cerebral calcification | Cognitive impairment | Diarrhea | Elevated circulating hepatic transaminase concentration | Failure to thrive in infancy | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrocephalus | Hypotonia | Intrauterine growth retardation | Jaundice | Lymphadenopathy | Macule | Microcephaly | Microphthalmia | Nystagmus | Premature birth | Seizure | Thrombocytopenia | Ventriculomegaly | Visual impairment" ], "symptoms_ja_list": [ "リンパ節腫大 | 下痢 | 乳児期の成長障害 (成長不全) | 全般性発達遅滞 | 大脳石灰化 | 子宮内成長遅滞 | 小眼球 | 小頭 | 心拡大 | 斑 | 早産 | 水頭症 | 発作 | 眼振 | 筋緊張低下 | 網膜色素異常 | 肝トランスアミナーゼ上昇 | 肝腫 | 脳室拡大 | 腹水 | 血小板減少 | 視力障害 | 認知障害 | 貧血 | 難聴 | 黄疸" ] }, { "id": "NANDO:1200264", "label_en": "Eosinophilic granulomatosis with polyangiitis", "label_ja": "好酸球性多発血管炎性肉芽腫症", "yomigana": "こうさんきゅうせいたはつけっかんえんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200264", "notificationNumber": "45", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal pericardium morphology | Abnormal pleura morphology | Acrocyanosis | Airway obstruction | Arthralgia | Arthritis | Asthma | Autoimmunity | Central nervous system degeneration | Congestive heart failure | Cough | Cranial nerve paralysis | Crescentic glomerulonephritis | Cutis marmorata | Dysphagia | Endocarditis | Fatigue | Fever | Gait disturbance | Gastroesophageal reflux | Glomerulopathy | Hematuria | Hemiplegia/hemiparesis | Hemoptysis | Hypertension | Hypertrophic cardiomyopathy | Hypopigmented skin patches | Increased circulating IgE concentration | Increased inflammatory response | Increased total eosinophil count | Intestinal obstruction | Malabsorption | Myalgia | Myocardial infarction | Myocarditis | Myositis | Nasal polyposis | Nausea and vomiting | Papule | Peripheral neuropathy | Pleural effusion | Proteinuria | Pulmonary infiltrates | Purpura | Recurrent intrapulmonary hemorrhage | Renal insufficiency | Respiratory insufficiency | Rheumatoid factor positive | Sinusitis | Skin rash | Subcutaneous nodule | Transient ischemic attack | Tubulointerstitial nephritis | Urticaria | Vasculitis | Venous thrombosis | Weight loss" ], "symptoms_ja_list": [ "IgE 値増加 | うっ血性心不全 | リウマチ因子陽性 | 一過性虚血発作 | 丘疹 | 中枢神経変性 | 低色素性皮膚斑 | 体重喪失 | 副鼻腔炎 | 半月形糸球体腎炎 | 反復性肺内出血 | 吐気と 嘔吐 | 吸収障害 | 呼吸不全 | 喀血 | 喘息 | 嚥下障害 | 外層 | 大理石皮膚 | 好酸球増多症 | 尿細管間質性腎炎 | 心内膜炎 | 心外膜の異常 | 心筋梗塞 | 心筋炎 | 末梢神経ニューロパチー | 歩行障害 | 炎症反応増加 | 片麻痺/片側不全麻痺 | 疲労 | 発熱 | 皮下結節 | 皮膚発疹 | 筋炎 | 筋痛 | 糸球体症 | 紫斑 | 肢端チアノーゼ | 肥大型心筋症 | 肺浸潤 | 胃食道逆流 | 胸膜の異常 | 胸膜滲出液 | 脳神経麻痺 | 腎不全 | 腸閉塞 | 腹痛 | 自己免疫 | 蕁麻疹 | 蛋白尿 | 血尿 | 血管炎 | 閉塞性肺疾患 | 関節炎 | 関節痛 | 静脈血栓症 | 高血圧 | 鼻ポリープ症" ] }, { "id": "NANDO:2201000", "label_en": "Epidermolysis bullosa", "label_ja": "表皮水疱症", "yomigana": "ひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201000", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200975", "label_en": "Antley-Bixler syndrome", "label_ja": "アントレー・ビクスラー症候群", "yomigana": "あんとれー・びくすらーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200975", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal renal morphology | Abnormal rib morphology | Anteverted nares | Arachnodactyly | Brachycephaly | Camptodactyly of finger | Choanal atresia | Cleft palate | Craniosynostosis | Delayed cranial suture closure | Downslanted palpebral fissures | Elbow ankylosis | Femoral bowing | Frontal bossing | Hypertelorism | Hypoplasia of the zygomatic bone | Joint stiffness | Long philtrum | Narrow chest | Narrow mouth | Narrow pelvis bone | Posteriorly rotated ears | Proptosis | Recurrent fractures | Short nose | Strabismus | Talipes | Turricephaly | Underdeveloped supraorbital ridges" ], "symptoms_ja_list": [ "くも指 | 上向きの鼻孔 | 両眼隔離 | 前頭突出", "額突出 | 反復性骨折 | 口蓋裂 | 塔状頭 | 大腿骨湾曲 | 尖足 | 屈指 | 後鼻孔閉鎖 | 循環器系の形態異常 | 斜視 | 狭い口 | 狭い胸郭 | 狭い骨盤 | 眼球突出 | 眼瞼裂斜下 | 眼窩上縁未発達 | 短い鼻 | 短頭 | 耳介後方回転 | 肋骨の異常 | 肘強直 | 腎形態異常 | 長い人中 | 関節拘縮 | 頬骨未発達 | 頭蓋合骨症 | 頭蓋骨縫合閉鎖遅延" ] }, { "id": "NANDO:1200418", "label_en": "Interstitial pneumonia other than IPF", "label_ja": "IPF以外の間質性肺炎", "yomigana": "あいぴーえふいがいのかんしつせいはいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200418", "notificationNumber": "85", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201359", "label_en": "Chondrodysplasia punctata, tibial-metacarpal type", "label_ja": "脛骨・中手骨型点状軟骨異形成症", "yomigana": "けいこつ・ちゅうしゅこつがたてんじょうなんこついけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201359", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Autosomal dominant inheritance | Calcific stippling | Coronal cleft vertebrae | Depressed nasal ridge | Epiphyseal stippling | Limb undergrowth | Malar flattening | Micromelia | Midface retrusion | Short 2nd metacarpal | Short 3rd metacarpal | Short 4th metacarpal | Short long bone | Short tibia" ], "symptoms_ja_list": [ "冠状脊椎裂 | 四肢成長不全 | 小肢症 | 常染色体顕性遺伝 | 平坦な頬 | 点状石灰化 | 短い第2中手骨 | 短い第3中手骨 | 短い第4中手骨 | 短い脛骨 | 短い長管骨 | 落ちくぼんだ鼻梁 | 顔面中部後退 | 骨端点状石灰化" ] }, { "id": "NANDO:2100274", "label_en": "Short bowel syndrome", "label_ja": "短腸症", "yomigana": "たんちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100274", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201160", "label_en": "Glycogen storage disease type IV, non-progressive hepatic form", "label_ja": "非進行性肝型糖原病IV型", "yomigana": "ひしんこうせいかんがたとうげんびょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201160", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200117", "label_en": "Pierson syndrome", "label_ja": "Pierson症候群", "yomigana": "ぴあそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200117", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [ "Areflexia | Autosomal recessive inheritance | Blindness | Cataract | Congenital nephrotic syndrome | Congenital onset | Death in childhood | Diffuse mesangial sclerosis | Edema | Feeding difficulties | Feeding difficulties in infancy | Fundus hypopigmentation | Global developmental delay | High myopia | Hyperechogenic kidneys | Hypertension | Hypoplasia of the ciliary body | Hypoplasia of the iris | Hypoproteinemia | Hyporeflexia | Hypotonia | Macular hypoplasia | Microcephaly | Microphthalmia | Motor delay | Neonatal onset | Nephrotic syndrome | Nystagmus | Oligohydramnios | Posterior lenticonus | Progressive microcephaly | Proteinuria | Remnants of the hyaloid vascular system | Renal insufficiency | Retinal detachment | Retinal hemorrhage | Retinal vascular tortuosity | Rieger anomaly | Skeletal muscle atrophy | Stage 5 chronic kidney disease | Visual impairment" ], "symptoms_ja_list": [ "Rieger 奇形 | びまん性メサンギウム硬化症 | ステージ5慢性腎疾患 | ネフローゼ症候群 | 低タンパク血症 | 低形成 of the ciliary body | 先天性ネフローゼ症候群 | 全般性発達遅滞 | 反射低下 | 小眼球 | 小頭 | 常染色体潜性遺伝 | 後部円錐水晶体 | 持続性過形成性一次硝子体 | 浮腫 | 無反射 | 白内障 | 盲 | 眼底低色素 | 眼振 | 筋緊張低下 | 筋萎縮 | 網膜出血 | 網膜剥離 | 網膜血管蛇行 | 羊水過少 | 腎不全 | 虹彩低形成 | 蛋白尿 | 視力障害 | 進行性小頭 | 運動発達遅滞 | 重度近視 | 食餌摂取障害 | 食餌摂取障害 in infancy | 高血圧 | 高輝度(エコー)腎 | 黄斑低形成" ] }, { "id": "NANDO:2201318", "label_en": "Anti-VGKC complex antibody encephalitis", "label_ja": "抗VGKC複合体抗体陽性脳炎", "yomigana": "こうぶいじーけーしーふくごうたいこうたいようせいのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2201318", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100248", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200590", "label_en": "Epilepsy with myoclonic atonic seizures", "label_ja": "ミオクロニー脱力発作を伴うてんかん", "yomigana": "みおくろにーだつりょくほっさをともなうてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200590", "notificationNumber": "143", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200901", "label_en": "Acute encephalopathy with biphasic seizures and late reduced diffusion", "label_ja": "痙攣重積型急性脳症", "yomigana": "けいれんじゅうせきがたきゅうせいのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200901", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100247", "symptoms_en_list": [ "Abnormal metabolic brain imaging by MRS | Bilateral tonic-clonic seizure | Complex febrile seizure | Hypointensity of cerebral white matter on MRI | Loss of consciousness | Takotsubo cardiomyopathy | Uncontrolled eye movements" ], "symptoms_ja_list": [ "MRIの大脳白質低輝度 | MRSでの異常な代謝性脳画像 | タコ壺心筋症 | 全身性間代性強直性発作 | 意識喪失 | 複雑型熱性けいれん | 調節不能の眼球運動" ] }, { "id": "NANDO:2200947", "label_en": "Megacystis-microcolon-intestinal hypoperistalsis syndrome", "label_ja": "巨大膀胱短小結腸腸管蠕動不全症", "yomigana": "きょだいぼうこうたんしょうけっちょうちょうかんぜんどうふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200947", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100275", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200337", "label_en": "Schimke syndrome", "label_ja": "シムケ症候群", "yomigana": "しむけしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200337", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abdominal distention | Abnormal T cell morphology | Abnormal T cell physiology | Abnormal circulating immunoglobulin concentration | Abnormal facial shape | Abnormal femoral head morphology | Abnormal intestine morphology | Abnormal primary molar morphology | Abnormality of the nervous system | Abnormality of thyroid physiology | Abnormally high-pitched voice | Anemia | Aphasia | Arteriosclerosis | Arteriosclerosis of small cerebral arteries | Astigmatism | Atherosclerosis | Autoimmunity | Autosomal recessive inheritance | Bilateral cryptorchidism | Bone marrow hypocellularity | Broad nasal tip | Bulbous nose | Cerebral ischemia | Coarse hair | Congenital onset | Congestive heart failure | Corneal opacity | Decreased circulating immunoglobulin concentration | Decreased total lymphocyte count | Decreased total neutrophil count | Depressed nasal bridge | Developmental regression | Disproportionate short-trunk short stature | Dysarthria | Dyspnea | Elevated circulating thyroid-stimulating hormone concentration | Encephalopathy | Failure to thrive | Fever | Fine hair | Focal hemiclonic seizure | Focal segmental glomerulosclerosis | Global developmental delay | Growth delay | Headache | Hemiparesis | Hemiplegia | Hyperlipidemia | Hypermelanotic macule | Hypertension | Hypodontia | Hypoplasia of the capital femoral epiphysis | Hypoplastic pelvis | Intellectual disability | Intrauterine growth retardation | Ischemic stroke | Lateral displacement of the femoral head | Lumbar hyperlordosis | Lymphoproliferative disorder | Macule | Microdontia | Microscopic hematuria | Migraine | Minimal change glomerulonephritis | Motor delay | Multiple lentigines | Muscle weakness | Myopia | Nephropathy | Nephrotic range proteinuria | Nephrotic syndrome | Non-Hodgkin lymphoma | Opacification of the corneal stroma | Osteopenia | Ovoid vertebral bodies | Pancreatitis | Pancytopenia | Platyspondyly | Premature birth | Proteinuria | Protuberant abdomen | Pulmonary arterial hypertension | Recurrent infections | Renal insufficiency | Seizure | Severe T-cell immunodeficiency | Shallow acetabular fossae | Short neck | Short stature | Small for gestational age | Spondyloepiphyseal dysplasia | Stage 5 chronic kidney disease | Status epilepticus | Stroke | Talipes equinovarus | Thoracic kyphosis | Thrombocytopenia | Transient ischemic attack | Triangular face | Waddling gait | Wide capital femoral epiphyses | Wide nasal bridge" ], "symptoms_ja_list": [ "T 細胞の異常 | T 細胞生理の異常 | うっ血性心不全 | てんかん重積 | よたつき歩行 | ステージ5慢性腎疾患 | ネフローゼ症候群 | ネフローゼ範囲の蛋白尿 | メラニン増加性斑 | リンパ増殖性疾患 | リンパ球減少症 | 一過性虚血発作 | 三角形の顔 | 不均衡性短躯低身長 | 両側性停留精巣 | 乱視 | 低ガンマグロブリン血症 | 低身長 | 偏頭痛 | 免疫グロブリン値異常 | 全般性発達遅滞 | 内反尖足 | 動脈硬化 | 動脈硬化症 | 卒中 | 卵形椎体骨 | 反復性感染症 | 呼吸困難 | 在胎月齢より小さい児 | 多発性黒子 | 大脳虚血 | 大腿骨頭の外側位置異常 | 大腿骨頭の異常 | 大腿骨骨頭骨端低形成 | 失語症 | 好中球減少症 | 子宮内成長遅滞 | 小大脳動脈動脈硬化 | 小歯 | 巣状分節性糸球体硬化症 | 常染色体潜性遺伝 | 幅広い大腿骨頭骨端 | 幅広い鼻尖 | 幅広い鼻梁 | 微小変化糸球体腎炎 | 成長遅滞 | 成長障害 (成長不全) | 扁平脊椎 | 斑 | 早産 | 構音障害 | 永久歯臼歯形態の異常 | 汎血球減少症 | 浅い寛骨臼窩 | 減歯症 | 片側不全麻痺 | 片側間代性発作 | 片麻痺 | 球状の鼻 | 甲状腺刺激ホルモン過剰症 | 甲状腺生理異常 | 異常な顔の形 | 発作 | 発熱 | 発達退行 | 知的障害 | 短い頸部 | 神経系の異常 | 筋虚弱 | 粗い毛髪 | 細い毛髪 | 肺高血圧 | 胸部後弯 | 脊椎骨端異形成 | 脳症 | 腎不全 | 腎症 | 腰椎前弯 hyperlordosis | 腸の異常 | 腹部突出 | 腹部膨満 | 膵炎 | 自己免疫 | 落ちくぼんだ鼻梁 | 虚血卒中 | 蛋白尿 | 血小板減少 | 角膜混濁 | 角膜間質混濁形成 | 貧血 | 近視 | 運動発達遅滞 | 重症 T-細胞免疫不全 | 非Hodgkin リンパ腫 | 頭痛 | 顕微血尿 | 骨減少症 | 骨盤低形成 | 骨髄細胞数増多 | 高脂血症 | 高血圧 | 高音の声" ] }, { "id": "NANDO:2100284", "label_en": "Epidermolysis bullosa", "label_ja": "表皮水疱症", "yomigana": "ひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100284", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200322", "label_en": "Hyperprolactinemia", "label_ja": "高プロラクチン血症", "yomigana": "こうぷろらくちんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200322", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100115", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200191", "label_en": "Supraglottic stenosis", "label_ja": "声門上狭窄症", "yomigana": "せいもんじょうきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200191", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200849", "label_en": "Unclassifiable multiple suture craniosynostosis", "label_ja": "分類不能の多縫合早期癒合症", "yomigana": "ぶんるいふのうのたほうごうそうきゆごうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200849", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100241", "label_en": "Neurodegeneration with brain iron accumulation", "label_ja": "脳の鉄沈着を伴う神経変性疾患", "yomigana": "のうのてつちんちゃくをともなうしんけいへんせいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100241", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200919", "label_en": "Typical Alagille syndrome", "label_ja": "アラジール症候群典型例", "yomigana": "あらじーるしょうこうぐんてんけいれい", "url": "http://nanbyodata.jp/ontology/NANDO_1200919", "notificationNumber": "297", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abnormal pupil morphology | Abnormal rib morphology | Abnormal vertebral body morphology | Abnormality of the ureter | Atrial septal defect | Brachycephaly | Butterfly vertebral arch | Cholestasis | Clinodactyly of the 5th finger | Coarse facial features | Corneal dystrophy | Cryptorchidism | Deeply set eye | Delayed puberty | Delayed skeletal maturation | Downslanted palpebral fissures | Failure to thrive | Flat face | Frontal bossing | Hepatomegaly | Hypertelorism | Hypertension | Hypoplasia of the ulna | Intrauterine growth retardation | Keratoconus | Long nose | Micrognathia | Mild intellectual disability | Nephrotic syndrome | Peripheral pulmonary artery stenosis | Pointed chin | Protruding ear | Reduced number of intrahepatic bile ducts | Renal hypoplasia/aplasia | Round face | Short distal phalanx of finger | Short philtrum | Specific learning disability | Spina bifida occulta | Strabismus | Telangiectasia of the skin | Ventricular septal defect | Vertebral segmentation defect" ], "symptoms_ja_list": [ "ネフローゼ症候群 | 両眼隔離 | 丸い顔 | 停留精巣 | 円錐角膜 | 前頭突出", "額突出 | 子宮内成長遅滞 | 小顎 | 尖った下顎 | 尺骨低形成 | 尿管異常 | 平坦な顔 | 心室中隔欠損 | 心房中隔欠損 | 思春期遅発 | 成長障害 (成長不全) | 斜視 | 末梢肺動脈狭窄 | 椎体骨形態異常 | 潜在性二分脊椎 | 特異的学習障害 | 皮膚毛細血管拡張 | 眼瞼裂斜下 | 瞳孔の異常 | 知的障害", "軽度 | 短い人中 | 短い指末節骨 | 短頭 | 第5指弯指 | 粗な顔貌 | 耳介聳立 | 肋骨の異常 | 肝内胆管数減少 | 肝腫 | 胆汁うっ滞 | 脊椎分節異常 | 腎低形成/無形成 | 落ちくぼんだ眼 | 蝶形椎弓 | 角膜ジストロフィー | 長い鼻 | 骨格骨化遅延 | 高血圧" ] }, { "id": "NANDO:1200316", "label_en": "Thrombotic thrombocytopenic purpura", "label_ja": "血栓性血小板減少性紫斑病", "yomigana": "けっせんせいけっしょうばんげんしょうせいしはんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200316", "notificationNumber": "64", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abdominal pain | Abnormality of the nervous system | Acute kidney injury | Arrhythmia | Coma | Confusion | Decreased serum creatinine | Diarrhea | Dyspnea | Fever | Generalized muscle weakness | Headache | Hematuria | Microangiopathic hemolytic anemia | Myocardial infarction | Proteinuria | Renal insufficiency | Reticulocytosis | Seizure | Stroke | Thrombocytopenia" ], "symptoms_ja_list": [ "下痢 | 不整脈 | 全身性筋虚弱 | 卒中 | 呼吸困難 | 微小血管症性溶血性貧血 | 心筋梗塞 | 急性腎外傷 | 昏睡 | 発作 | 発熱 | 神経系の異常 | 網状赤血球増多症 | 腎不全 | 腹痛 | 蛋白尿 | 血小板減少 | 血尿 | 血清クレアチニン減少 | 錯乱 | 頭痛" ] }, { "id": "NANDO:2200424", "label_en": "Granulomatosis with polyangiitis", "label_ja": "多発血管炎性肉芽腫症", "yomigana": "たはつけっかんえんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200424", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100153", "symptoms_en_list": [ "Abdominal pain | Abnormal oral cavity morphology | Abnormality of the hypothalamus-pituitary axis | Abnormality of the nose | Angina pectoris | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Cerebral ischemia | Chest pain | Chronic otitis media | Chronic pulmonary obstruction | Concave nasal ridge | Conjunctivitis | Cough | Cranial nerve paralysis | Diabetes insipidus | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Episcleritis | Epistaxis | Fatigue | Fever | Gangrene | Gastrointestinal hemorrhage | Glomerulonephritis | Glomerulopathy | Granulomatosis | Headache | Hematuria | Hemiplegia | Hemoptysis | Hydronephrosis | Hypertension | Increased inflammatory response | Inflammatory abnormality of the eye | Intestinal obstruction | Keratitis | Meningitis | Middle age onset | Myalgia | Nasolacrimal duct obstruction | Nausea and vomiting | Oral ulcer | Otitis media | Pancreatitis | Papule | Pericarditis | Periorbital edema | Peripheral neuropathy | Pleural effusion | Pleuritis | Polyarticular arthritis | Polygenic inheritance | Proptosis | Prostatitis | Proteinuria | Pulmonary fibrosis | Pulmonary infiltrates | Purpura | Recurrent intrapulmonary hemorrhage | Recurrent respiratory infections | Renal insufficiency | Respiratory insufficiency | Restrictive ventilatory defect | Retinal hemorrhage | Retinopathy | Scleritis | Seizure | Sensorineural hearing impairment | Sensory neuropathy | Sinusitis | Skin rash | Skin ulcer | Subglottic stenosis | Tracheal stenosis | Ureteral stenosis | Uveitis | Vasculitis | Venous thrombosis | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | ブドウ膜炎 | 上強膜炎 | 不整脈 | 丘疹 | 中耳炎 | 体重喪失 | 共通 | 前立腺炎 | 副鼻腔炎 | 反復性呼吸器感染症 | 反復性肺内出血 | 口腔の異常 | 口腔潰瘍 | 吐気と 嘔吐 | 呼吸不全 | 喀血 | 壊疽 | 声門下狭窄 | 外層 | 多因子遺伝 | 多関節関節炎 | 大脳虚血 | 尿崩症 | 尿管狭窄 | 心外膜炎 | 感覚ニューロパチー | 感音難聴 | 慢性中耳炎 | 慢性閉塞性肺疾患 | 拘束性肺疾患 | 末梢神経ニューロパチー | 気管狭窄 | 水腎症 | 炎症反応増加 | 片麻痺 | 狭心症 | 疲労 | 発作 | 発熱 | 皮膚潰瘍 | 皮膚発疹 | 眼の炎症性異常 | 眼球突出 | 眼窩周囲浮腫 | 窪んだ鼻梁 | 筋痛 | 糸球体症 | 糸球体腎炎 | 紫斑 | 結膜炎 | 網膜出血 | 網膜症 | 肉芽腫症 | 肺浸潤 | 肺線維症 | 胃腸出血 | 胸膜滲出液 | 胸膜炎 | 脳神経麻痺 | 腎不全 | 腸閉塞 | 腹痛 | 膵炎 | 自己免疫 | 蛋白尿 | 血尿 | 血管炎 | 視力障害 | 視床下部-下垂体軸異常 | 角膜炎 | 赤沈値上昇 | 関節炎 | 関節痛 | 静脈血栓症 | 頭痛 | 髄膜炎 | 高血圧 | 鼻の異常 | 鼻出血 | 鼻涙管閉塞" ] }, { "id": "NANDO:2200264", "label_en": "Patent ductus arteriosus", "label_ja": "動脈管開存症", "yomigana": "どうみゃくかんかいぞんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200264", "notificationNumber": "73", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100084", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200417", "label_en": "Idiopathic pulmonary fibrosis", "label_ja": "特発性肺線維症", "yomigana": "とくはつせいはいせんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200417", "notificationNumber": "85", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200446", "label_en": "Colonic Crohn's disease", "label_ja": "大腸型クローン病", "yomigana": "だいちょうがたくろーんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200446", "notificationNumber": "96", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200951", "label_en": "Cloacal exstrophy", "label_ja": "総排泄腔外反症", "yomigana": "そうはいせつくうがいはんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200951", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100277", "symptoms_en_list": [ "Abnormal clitoris morphology | Abnormal fallopian tube morphology | Abnormal fibula morphology | Abnormal tibia morphology | Absent foot | Anal atresia | Bladder exstrophy | Cloacal exstrophy | Ectopic kidney | Hemivertebrae | Hip dislocation | Horseshoe kidney | Hydroureter | Hypoplasia of penis | Intestinal duplication | Intestinal malrotation | Myelomeningocele | Omphalocele | Renal hypoplasia/aplasia | Spina bifida | Talipes equinovarus | Ureterocele | Ureteropelvic junction obstruction | Vesicoureteral reflux" ], "symptoms_ja_list": [ "二分脊椎 | 内反尖足 | 半脊椎 | 卵管異常 | 尿管瘤 | 尿管腎盂接合部閉塞 | 水尿管症 | 異所性腎 | 総排泄腔外反 | 股関節脱臼 | 脊髄髄膜瘤 | 脛骨の異常 | 腎低形成/無形成 | 腓骨の異常 | 腸回転異常 | 腸重複 | 膀胱外反症 | 膀胱尿管逆流 | 臍帯ヘルニア | 足欠損 | 鎖肛 | 陰核異常 | 陰茎低形成 | 馬蹄腎" ] }, { "id": "NANDO:1201029", "label_en": "obsolete Mesangial proliferative glomerulonephritis", "label_ja": "obsolete メサンギウム増殖性糸球体腎炎", "yomigana": "めさんぎうむぞうしょくせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201029", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201148", "label_en": "Trifunctional protein deficiency, lethal type", "label_ja": "新生児期発症型三頭酵素欠損症", "yomigana": "しんせいじきはっしょうがたさんとうこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201148", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201334", "label_en": "Antley-Bixler syndrome (metopic synostosis)", "label_ja": "アントレー・ビクスラー症候群（前頭縫合）", "yomigana": "あんとれー・びくすらーしょうこうぐん（ぜんとうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201334", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100081", "label_en": "Truncus arteriosus communis", "label_ja": "総動脈幹遺残症", "yomigana": "そうどうみゃくかんいざんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100081", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200726", "label_en": "Primary membranoproliferative glomerulonephritis type I", "label_ja": "一次性膜性増殖性糸球体腎炎I型", "yomigana": "いちじせいまくせいぞうしょくせいしきゅうたいじんえん1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200726", "notificationNumber": "223", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Acute kidney injury | Autosomal recessive inheritance | Childhood onset | Hemolytic anemia | Hemolytic-uremic syndrome | Hypoalbuminemia | Infantile onset | Juvenile onset | Membranoproliferative glomerulonephritis | Nephrotic syndrome | Progressive | Proteinuria | Stage 5 chronic kidney disease | Thickened glomerular basement membrane | Thrombocytopenia" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | ネフローゼ症候群 | 常染色体潜性遺伝 | 急性腎外傷 | 溶血性尿毒症候群症候群 | 溶血性貧血 | 糸球体基底膜肥厚 | 膜性増殖性糸球体腎炎 | 蛋白尿 | 血小板減少 | 高アルブミン血症" ] }, { "id": "NANDO:2200869", "label_en": "Nemaline myopathy", "label_ja": "ネマリンミオパチー", "yomigana": "ねまりんみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_2200869", "notificationNumber": "52", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100234", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200528", "label_en": "Diseases due to mitochondrial DNA deletion", "label_ja": "ミトコンドリアDNA欠失", "yomigana": "みとこんどりあでぃーえぬえーけっしつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200528", "notificationNumber": "90", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200168", "label_en": "Fused pelvic kidney", "label_ja": "骨盤部融合腎", "yomigana": "こつばんぶゆうごうじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200168", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201122", "label_en": "Acute-onset multiple carboxylase deficiency", "label_ja": "急性発症型複合カルボキシラーゼ欠損症", "yomigana": "きゅうせいはっしょうがたふくごうかるぼきしらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201122", "notificationNumber": "105", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200765", "label_en": "Peroxisomal acyl-CoA oxidase deficiency", "label_ja": "アシル CoA オキシダーゼ欠損症 ", "yomigana": "あしる こえーおきしだーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200765", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal electroretinogram | Abnormal nervous system morphology | Abnormal speech pattern | Abnormality of metabolism/homeostasis | Abnormality of visual evoked potentials | Autosomal recessive inheritance | Babinski sign | Bilateral sensorineural hearing impairment | Brachycephaly | CNS demyelination | Death in infancy | Decreased light- and dark-adapted electroretinogram amplitude | Depressed nasal bridge | Developmental regression | Diffuse hepatic steatosis | Dysphagia | Dystonia | EEG abnormality | Elevated circulating hepatic transaminase concentration | Epicanthus | Failure to thrive | Frontal bossing | Gait disturbance | Global developmental delay | Hand polydactyly | Hepatomegaly | Hyperreflexia | Hypertelorism | Hypertonia | Hypodontia | Hypotonia | Infantile onset | Intellectual disability | Inverted nipples | Irritability | Leukodystrophy | Low-set ears | Myopia | Neonatal hypotonia | Neonatal onset | No social interaction | Nystagmus | Optic atrophy | Pigmentary retinopathy | Respiratory insufficiency | Rod-cone dystrophy | Seizure | Sensorineural hearing impairment | Severe global developmental delay | Severe intellectual disability | Strabismus | Very long chain fatty acid accumulation | Wide nasal bridge" ], "symptoms_ja_list": [ "Babinski サイン | びまん性脂肪肝 | ジストニア | ロイコジストロフィー | 両側性感音難聴 | 両眼隔離 | 中枢神経脱髄 | 代謝/ホメオスターシスの異常 | 全般性発達遅滞 | 内眼角贅皮 | 前頭突出", "額突出 | 反射亢進 | 呼吸不全 | 嚥下障害 | 多指症 | 常染色体潜性遺伝 | 幅広い鼻梁 | 感音難聴 | 成長障害 (成長不全) | 斜視 | 新生児筋緊張低下 | 極長鎖脂肪酸蓄積 | 歩行障害 | 減歯症 | 発作 | 発達退行 | 眼振 | 知的障害 | 知的障害", "重度 | 短頭 | 社会的相互作用なし | 神経学的発語障害 | 神経系形態の異常 | 筋緊張亢進 | 筋緊張低下 | 網膜電図 (ERG) 振幅減少 | 網膜電図異常 | 耳介低位 | 肝トランスアミナーゼ上昇 | 肝腫 | 脳波異常 | 色素性網膜炎 | 色素性網膜症 | 落ちくぼんだ鼻梁 | 被刺激性 | 視神経萎縮 | 視覚誘発電位の異常 | 近視 | 逆位乳頭 | 重度の全般性発達遅滞" ] }, { "id": "NANDO:2200468", "label_en": "Tyrosinemia type 1", "label_ja": "高チロシン血症1型", "yomigana": "こうちろしんけっしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200468", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Acute hepatic failure | Anemia | Ascites | Autosomal recessive inheritance | Cirrhosis | Elevated circulating alpha-fetoprotein concentration | Elevated circulating hepatic transaminase concentration | Elevated urinary delta-aminolevulinic acid | Enlarged kidney | Episodic peripheral neuropathy | Episodic vomiting | Failure to thrive | Fever | Gastrointestinal hemorrhage | Generalized aminoaciduria | Glomerular sclerosis | Growth delay | Hepatic failure | Hepatocellular carcinoma | Hepatomegaly | Hypermethioninemia | Hypertrophic cardiomyopathy | Hypertyrosinemia | Hypoglycemia | Hypophosphatemic rickets | Melena | Metabolic acidosis | Nephrocalcinosis | Pancreatic islet-cell hyperplasia | Paralytic ileus | Periodic paralysis | Prolonged partial thromboplastin time | Prolonged prothrombin time | Renal Fanconi syndrome | Renal insufficiency | Rickets of the lower limbs | Splenomegaly" ], "symptoms_ja_list": [ "α-フェトプロテイン上昇 | くる病 (下肢) | プロトロンビン時間遷延 | 下血 | 代謝性アシドーシス | 低リン血症性くる病 | 低血糖 | 周期性麻痺 | 嘔吐エピソード | 尿中δ-アミノレブリン酸上昇 | 常染色体潜性遺伝 | 急性肝不全 | 成長遅滞 | 成長障害 (成長不全) | 末梢神経障害エピソード | 汎アミノ酸尿 | 発熱 | 糸球体硬化症 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝硬変 | 肝細胞癌 | 肝腫 | 肥大型心筋症 | 胃腸出血 | 脾腫 | 腎不全 | 腎性 Fanconi 症候群 | 腎拡大 | 腎石灰化症 | 腹水 | 膵頭部細胞過形成 | 貧血 | 部分的トロンボプラスチン時間遷延 | 高チロシン血症 | 高メチオニン血症mia | 麻痺性イレウス" ] }, { "id": "NANDO:1201102", "label_en": "Brachyolmia, autosomal dominant type", "label_ja": "短体幹症", "yomigana": "たんたいかんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201102", "notificationNumber": "341", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal metaphysis morphology | Autosomal dominant inheritance | Barrel-shaped chest | Childhood-onset short-trunk short stature | Hypermetropia | Increased vertebral height | Intellectual disability | Kyphoscoliosis | Kyphosis | Platyspondyly | Proximal femoral metaphyseal irregularity | Radial deviation of finger | Scoliosis | Short femoral neck | Short neck | Short stature | Short thorax | Spinal cord compression" ], "symptoms_ja_list": [ "不規則な近位大腿骨骨幹端 | 低身長 | 側弯 | 小児期発症短躯低身長 | 常染色体顕性遺伝 | 後側弯 | 後弯 | 扁平脊椎 | 指の橈側偏位 | 樽状胸 | 知的障害 | 短い大腿骨頸部 | 短い胸郭 | 短い頸部 | 脊椎高の増加 | 脊髄圧迫 | 遠視 | 骨幹端の異常" ] }, { "id": "NANDO:2100175", "label_en": "Blood disease", "label_ja": "血液疾患", "yomigana": "けつえきしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100175", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201034", "label_en": "Hereditary hemorrhagic telangiectasia", "label_ja": "遺伝性出血性末梢血管拡張症", "yomigana": "いでんせいしゅっけつせいまっしょうけっかんかくちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201034", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100296", "symptoms_en_list": [ "Abnormal cardiovascular system physiology | Abnormal cerebral vascular morphology | Anemia | Arteriovenous malformation | Cerebral arteriovenous malformation | Cerebral hemorrhage | Cirrhosis | Congestive heart failure | Conjunctival telangiectasia | Epistaxis | Esophageal varix | Gastrointestinal arteriovenous malformation | Gastrointestinal hemorrhage | Hemoptysis | Hepatic arteriovenous malformation | Hepatic failure | Intestinal polyposis | Lip telangiectasia | Migraine | Mucosal telangiectasiae | Nasal mucosa telangiectasia | Peripheral arteriovenous fistula | Portal hypertension | Pulmonary arterial hypertension | Pulmonary arteriovenous malformation | Pulmonary embolism | Retinal telangiectasia | Seizure | Spontaneous", "recurrent epistaxis | Subarachnoid hemorrhage | Telangiectasia | Telangiectasia of the skin | Tongue telangiectasia | Transient ischemic attack | Venous thrombosis | Visceral angiomatosis" ], "symptoms_ja_list": [ "うっ血性心不全 | クモ膜下出血 | 一過性虚血発作 | 偏頭痛 | 内臓血管腫症 | 動静脈奇形 | 口唇毛細血管拡張 | 喀血 | 大脳出血 | 大脳動静脈奇形 | 大脳血管の異常 | 心血管系生理の異常 | 末梢動静脈瘻 | 毛細血管拡張 | 発作 | 皮膚毛細血管拡張 | 粘膜の毛細血管拡張 | 結膜毛細血管拡張 | 網膜毛細血管拡張 | 肝不全 | 肝動静脈奇形 | 肝硬変 | 肺動静脈奇形 | 肺塞栓症 | 肺高血圧 | 胃腸出血 | 胃腸動静脈奇形 | 腸ポリープ症 | 自然反復性鼻出血 | 舌毛細血管拡張 | 貧血 | 門脈圧亢進 | 静脈血栓症 | 食道静脈瘤 | 鼻出血 | 鼻粘膜毛細血管拡張" ] }, { "id": "NANDO:2200417", "label_en": "Juvenile dermatomyositis, polymyositis", "label_ja": "皮膚筋炎／多発性筋炎", "yomigana": "ひふきんえん／たはつせいきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200417", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200282", "label_en": "Adult-onset Still disease", "label_ja": "成人発症スチル病", "yomigana": "せいじんはっしょうすちるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200282", "notificationNumber": "54", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal circulating lipid concentration | Amyloid deposition | Anemia | Anorexia | Antinuclear antibody positivity | Arthralgia | Arthralgia/arthritis | Arthritis | Bone marrow hypocellularity | Cartilage destruction | Conjunctivitis | Disseminated intravascular coagulation | Elevated circulating C-reactive protein concentration | Elevated circulating aldolase concentration | Elevated circulating alkaline phosphatase concentration | Elevated circulating hepatic transaminase concentration | Elevated erythrocyte sedimentation rate | Encephalopathy | Episcleritis | Erythema | Fatigue | Fever | Generalized lymphadenopathy | Hemophagocytosis | Hepatitis | Hepatomegaly | Increased circulating ferritin concentration | Increased total leukocyte count | Increased total neutrophil count | Interstitial pneumonitis | Joint swelling | Lymphadenitis | Lymphadenopathy | Lymphoma | Myalgia | Myocarditis | Nausea | Pancreatitis | Pericarditis | Pleural effusion | Pleuritis | Proteinuria | Pruritus | Respiratory distress | Rheumatoid factor positive | Sepsis | Skin rash | Splenomegaly | Transient pulmonary infiltrates | Uveitis | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | アミロイドーシス | アルカリホスファターゼ上昇 | アルドラーゼ値上昇 | ブドウ膜炎 | リウマチ因子陽性 | リンパ節炎 | リンパ節腫大 | リンパ腫 | 一過性肺浸潤 | 上強膜炎 | 体重喪失 | 全身性リンパ節腫大 | 吐気 | 呼吸窮迫 | 好中球増多症 | 心外膜炎 | 心筋炎 | 抗核抗体陽性 | 掻痒 | 播種性血管内凝固 | 敗血症 | 疲労 | 発熱 | 白血球増多症 | 皮膚発疹 | 筋痛 | 紅斑 | 結膜炎 | 肝トランスアミナーゼ上昇 | 肝炎 | 肝腫 | 胸膜滲出液 | 胸膜炎 | 脂質代謝の異常 | 脳症 | 脾腫 | 腹痛 | 膵炎 | 蛋白尿 | 血液貪食症 | 血清フェリチン増加 | 貧血 | 赤沈値上昇 | 軟骨破壊 | 間質性肺臓炎 | 関節炎 | 関節痛 | 関節痛/関節炎 | 関節腫脹 | 食思不振 | 骨髄細胞数増多" ] }, { "id": "NANDO:2201207", "label_en": "Niemann-Pick disease type B", "label_ja": "ニーマン・ピック病B型", "yomigana": "にーまん・ぴっくびょうびーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201207", "notificationNumber": "122", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal bleeding | Abnormal blood gas level | Abnormal cerebellum morphology | Abnormal circulating lipid concentration | Abnormal heart valve morphology | Abnormal macular morphology | Abnormal pulmonary interstitial morphology | Abnormality of the nervous system | Acute promyelocytic leukemia | Anemia | Apraxia | Arthralgia | Ataxia | Attention deficit hyperactivity disorder | Atypical behavior | Autoimmune thrombocytopenia | Autosomal recessive inheritance | Bipolar affective disorder | Bone-marrow foam cells | Cherry red spot of the macula | Childhood onset | Cholelithiasis | Cirrhosis | Coronary artery atherosclerosis | Decreased circulating HDL-C concentration | Decreased liver function | Delayed gross motor development | Delayed puberty | Delayed skeletal maturation | Depression | Diffuse reticular or finely nodular infiltrations | Dyspnea | Elevated circulating LDL-C concentration | Foam cells with lamellar inclusion bodies | Generalized non-motor (absence) seizure | Hepatic failure | Hepatomegaly | Hyperlipidemia | Hypersplenism | Hypertriglyceridemia | Intellectual disability | Interstitial pneumonitis | Juvenile onset | Mental deterioration | Middle age onset | Neoplasm of the liver | Nystagmus | Osteopenia | Osteoporosis | Pathologic fracture | Peripheral neuropathy | Progressive pulmonary function impairment | Recurrent respiratory infections | Respiratory failure requiring assisted ventilation | Sea-blue histiocytosis | Short stature | Specific learning disability | Splenomegaly | Systemic lupus erythematosus | Thrombocytopenia | Young adult onset" ], "symptoms_ja_list": [ "うつ | びまん性網状または微細結節性浸潤 | 低身長 | 全身性紅斑性狼瘡 | 冠動脈疾患 | 双極性感情障害 | 反復性呼吸器感染症 | 呼吸困難 | 失行症 | 小脳の異常 | 層状封入体を伴う泡沫細胞 | 常染色体潜性遺伝 | 心弁の異常 | 思春期遅発 | 急性前骨髄球性白血病 | 末梢神経ニューロパチー | 欠神発作 | 注意力欠陥多動性疾患 | 海青組織球症 | 特異的学習障害 | 異常な出血 | 病的骨折 | 眼振 | 知的障害 | 知能悪化 | 神経系の異常 | 粗大運動発達遅延 | 肝不全 | 肝新生物 | 肝機能低下 | 肝硬変 | 肝腫 | 胆石症 | 脂質代謝の異常 | 脾機能亢進 | 脾腫 | 自己免疫性血小板減少 | 血小板減少 | 血液ガス値異常 | 行動異常 | 補助換気が必要な呼吸不全 | 貧血 | 進行性肺機能障害 | 運動失調 | 間質性肺疾患 | 間質性肺臓炎 | 関節痛 | 骨格骨化遅延 | 骨減少症 | 骨粗鬆症 | 骨髄泡沫細胞 | 高αリポ蛋白血症 | 高βリポタンパク血症 | 高トリグリセリド血症 | 高脂血症 | 黄斑のチェリーレッド斑 | 黄斑の異常" ] }, { "id": "NANDO:2201302", "label_en": "Non-syndromic sagittal craniosynostosis", "label_ja": "非症候性頭蓋骨縫合早期癒合症（矢状縫合）", "yomigana": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう（しじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201302", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201120", "label_en": "Acute-onset 3-hydroxy-3-methylglutaric acidemia", "label_ja": "急性発症型3-ヒドロキシ-3-メチルグルタル酸血症", "yomigana": "きゅうせいはっしょうがた3ひどろきし3めちるぐるたるさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201120", "notificationNumber": "102", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201249", "label_en": "Adult cerebral adrenoleukodystrophy", "label_ja": "成人大脳型副腎白質ジストロフィー", "yomigana": "せいじんだいのうがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201249", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200616", "label_en": "Congenital ichthyosiform erythroderma", "label_ja": "先天性魚鱗癬様紅皮症", "yomigana": "せんてんせいぎょりんせんようこうひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200616", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal nail morphology | Alopecia | Corneal erosion | Ectropion | Erythroderma | Failure to thrive | Hearing impairment | Hypohidrosis | Ichthyosis | Keratitis | Palmoplantar keratoderma | Pruritus | Short stature" ], "symptoms_ja_list": [ "低身長 | 外反(眼瞼) | 成長障害 (成長不全) | 掌蹠角皮症 | 掻痒 | 減汗症 | 爪の異常 | 禿頭 | 紅皮症 | 角膜びらん | 角膜炎 | 難聴 | 魚鱗癬" ] }, { "id": "NANDO:1200455", "label_en": "Neonatal food-protein induced enterocolitis", "label_ja": "新生児乳児食物蛋白誘発胃腸炎", "yomigana": "しんせいじにゅうじしょくもつたんぱくゆうはついちょうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200455", "notificationNumber": "98", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200821", "label_en": "Dandy-Walker syndrome", "label_ja": "ダンディー・ウォーカー症候群", "yomigana": "だんでぃー・うぉーかーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200821", "notificationNumber": "90", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [ "Agenesis of cerebellar vermis | Aplasia/Hypoplasia of the cerebellar vermis | Aplasia/Hypoplasia of the corpus callosum | Cerebellar hypoplasia | Cleft palate | Cranial nerve paralysis | Dandy-Walker malformation | Dilated fourth ventricle | Elevated imprint of the transverse sinuses | Encephalocele | Enlarged fetal cisterna magna | Enlarged posterior fossa | Frontal bossing | Hydrocephalus | Increased intracranial pressure | Intellectual disability | Macrocephaly | Mild fetal ventriculomegaly | Motor delay | Nystagmus | Partial absence of cerebellar vermis | Platybasia | Posterior fossa cyst at the fourth ventricle | Prominent occiput | Sporadic | Thinning and bulging of the posterior fossa bones | Truncal ataxia" ], "symptoms_ja_list": [ "Dandy-Walker 奇形 | 体幹失調 | 前頭突出", "額突出 | 口蓋裂 | 大頭 | 孤発性 | 小脳低形成 | 小脳虫部無形成/低形成 | 小脳虫部無発生 | 小脳虫部部分的欠損 | 幅広い後頭窩 | 後頭窩骨の菲薄化と突出 | 扁平頭蓋底 | 拡大した胎児大槽 | 横静脈洞の上昇した印影 | 水頭症 | 目立つ後頭 | 眼振 | 知的障害 | 第4脳室での後頭窩嚢胞 | 第4脳室拡大 | 脳梁無形成/低形成 | 脳瘤 | 脳神経麻痺 | 軽度の胎児脳室拡大 | 運動発達遅滞 | 頭蓋内圧の増加" ] }, { "id": "NANDO:2200681", "label_en": "Factor XIII deficiency", "label_ja": "第XIII因子欠乏症", "yomigana": "だい13いんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200681", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Abnormal umbilical stump bleeding | Bleeding with minor or no trauma | Bruising susceptibility | Cerebral hemorrhage | Epistaxis | Gingival bleeding | Hepatic failure | Inflammation of the large intestine | Intramuscular hematoma | Joint hemorrhage | Menorrhagia | Myeloid leukemia | Persistent bleeding after trauma | Poor wound healing | Post-partum hemorrhage | Prolonged bleeding after dental extraction | Prolonged bleeding after surgery | Recurrent spontaneous abortion | Reduced factor XIII activity | Spontaneous hematomas | Subcutaneous hemorrhage" ], "symptoms_ja_list": [ "傷治癒不全 | 出血傾向 | 反復性自然流産 | 外傷後の持続性出血 | 大脳出血 | 大腸の炎症 | 抜歯後の遷延性出血 | 月経痛 | 歯肉出血 | 産後出血 | 異常な臍帯断端出血 | 皮下出血 | 第 XIII 因子活性の減少 | 筋内血腫 | 肝不全 | 自然血管腫 | 術後の遷延性出血 | 軽微な外傷または外傷なしでの出血 | 関節出血 | 骨髄性白血病 | 鼻出血" ] }, { "id": "NANDO:2200371", "label_en": "3 beta-hydroxysteroid dehydrogenase deficiency", "label_ja": "3β-ヒドロキシステロイド脱水素酵素欠損症", "yomigana": "3べーたひどろきしすてろいどだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200371", "notificationNumber": "57", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100134", "symptoms_en_list": [ "Abnormal labia majora morphology | Absent scrotum | Adrenal hyperplasia | Adrenal insufficiency | Adrenocorticotropic hormone excess | Ambiguous genitalia | Ambiguous genitalia", "female | Ambiguous genitalia", "male | Autosomal recessive inheritance | Azoospermia | Bifid scrotum | Clitoral hypertrophy | Congenital adrenal hyperplasia | Congenital onset | Cryptorchidism | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Decreased fertility in males | Decreased testicular size | Dehydration | Failure to thrive | Female external genitalia in individual with 46", "XY karyotype | Global developmental delay | Gynecomastia | Hirsutism | Hyperkalemia | Hyperpigmentation of the skin | Hyponatremia | Hypospadias | Hypotension | Increased circulating renin concentration | Male pseudohermaphroditism | Micropenis | Neonatal asphyxia | Neonatal hypoglycemia | Penoscrotal hypospadias | Perineal hypospadias | Premature adrenarche | Premature pubarche | Renal salt wasting | Scrotal hypospadias | Vomiting" ], "symptoms_ja_list": [ "46", "XY核型での女性外性器 | 二分陰嚢 | 会陰尿道下裂 | 低アルドステロン症 | 低ナトリウム血症 | 低血圧 | 停留精巣 | 先天性副腎過形成 | 全般性発達遅滞 | 副腎不全 | 副腎皮質刺激ホルモン過剰 | 副腎皮質性思春期早発 | 副腎過形成 | 嘔吐 | 多毛 | 大陰唇異常 | 女性型乳房 | 小陰茎 | 尿道下裂 | 常染色体潜性遺伝 | 循環性コルチゾール値減少 | 循環性レニン値増加 | 性別不明の外性器 | 性別不明の外性器", "女性 | 性別不明の外性器", "男性 | 恥毛早発 | 成長障害 (成長不全) | 新生児仮死 | 新生児低血糖 | 無精子症 | 男性の妊孕性減少 | 男性仮性半陰陽 | 皮膚高色素 | 精巣サイズ減少 | 脱水 | 腎性塩類喪失 | 陰嚢尿道下裂 | 陰嚢欠損 | 陰核肥大 | 陰茎陰嚢尿道下裂 | 高カリウム血症" ] }, { "id": "NANDO:2200149", "label_en": "Chronic renal failure due to acute tubular necrosis or renal ischemias", "label_ja": "慢性腎不全（急性尿細管壊死または腎虚血によるものに限る。）", "yomigana": "まんせいじんふぜん（きゅうせいにょうさいかんえしまたはじんきょけつによるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200149", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100023", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200444", "label_en": "Cherubism", "label_ja": "ケルビズム", "yomigana": "けるびずむ", "url": "http://nanbyodata.jp/ontology/NANDO_2200444", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abnormal dental morphology | Abnormal mandible morphology | Abnormality of the dentition | Abnormality of the voice | Alveolar ridge overgrowth | Autosomal dominant inheritance | Bone cyst | Broad jaw | Childhood onset | Constriction of peripheral visual field | Dental malocclusion | Feeding difficulties in infancy | Full cheeks | Juvenile onset | Macular scar | Marcus Gunn pupil | Multiple impacted teeth | Narrow palate | Obstructive sleep apnea | Oligodontia | Optic atrophy | Optic neuropathy | Progressive visual loss | Proptosis | Reduced visual acuity | Round face | Upper airway obstruction | Visual impairment | Young adult onset" ], "symptoms_ja_list": [ "Marcus Gunn 瞳孔 | 上気道閉塞 | 下顎の異常 | 不正咬合 | 中心視力減少 | 丸い顔 | 乏歯症 | 声の異常 | 多発性埋没歯 | 大きな頬 | 常染色体顕性遺伝 | 幅広い下顎 | 歯の異常 | 歯形態異常 | 歯槽隆起 過成長 | 狭い口蓋 | 眼球突出 | 視力障害 | 視神経ニューロパチー | 視神経萎縮 | 視野狭窄 | 進行性視力喪失 | 閉塞性睡眠時無呼吸 | 食餌摂取障害 in infancy | 骨嚢胞 | 黄斑瘢痕" ] }, { "id": "NANDO:1200300", "label_en": "Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome", "label_ja": "再生不良性貧血-PNH症候群", "yomigana": "さいせいふりょうせいひんけつぴーえぬえいちしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200300", "notificationNumber": "60", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200519", "label_en": "Dystonia 8", "label_ja": "DYT8ジストニア", "yomigana": "でぃーわいてぃー8じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200519", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201074", "label_en": "Porencephaly", "label_ja": "孔脳症", "yomigana": "こうのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201074", "notificationNumber": "138", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of movement | Cerebral palsy | Hemiplegia/hemiparesis | Intellectual disability | Porencephalic cyst | Seizure | Spasticity | Ventriculomegaly" ], "symptoms_ja_list": [ "孔脳症 | 片麻痺/片側不全麻痺 | 痙性 | 発作 | 知的障害 | 脳室拡大 | 脳性麻痺 | 運動の異常" ] }, { "id": "NANDO:1200782", "label_en": "Vitamin D-dependent rickets, type 1", "label_ja": "ビタミンD依存症1型", "yomigana": "びたみんでぃーいぞんしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200782", "notificationNumber": "239", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Bone pain | Cardiomyopathy | Decreased circulating calcitriol concentration | Deformed rib cage | Delayed epiphyseal ossification | Delayed eruption of teeth | Elevated alkaline phosphatase of bone origin | Elevated circulating alkaline phosphatase concentration | Elevated circulating parathyroid hormone level | Enamel hypoplasia | Enlargement of the ankles | Enlargement of the costochondral junction | Enlargement of the wrists | Failure to thrive | Femoral bowing | Flat occiput | Frontal bossing | Gait disturbance | Generalized aminoaciduria | Generalized hypotonia | Genu varum | Hepatomegaly | Hypocalcemia | Hypocalcemic seizures | Hypochromic anemia | Hypophosphatemia | Increased susceptibility to fractures | Increased total leukocyte count | Irregular", "rachitic-like metaphyses | Irritability | Motor delay | Muscle weakness | Osteomalacia | Postnatal growth retardation | Protuberant abdomen | Rachitic rosary | Rickets | Secondary hyperparathyroidism | Short stature | Sparse bone trabeculae | Splenomegaly | Subperiosteal bone resorption | Tetany | Thin bony cortex | Tibial bowing | Wide cranial sutures" ], "symptoms_ja_list": [ "くる病 | くる病性念珠 | アルカリホスファターゼ上昇 | テタニー | 不規則なくる病様骨幹端 | 二次性副甲状腺機能亢進症 | 二次性副甲状腺機能亢進症による骨膜下びらん | 低カルシウム血症 | 低カルシウム血症性発作 | 低リン血症 | 低色素性貧血 | 低身長 | 全身性筋緊張低下 | 内反膝 | 前頭突出", "額突出 | 変形した肋骨胸郭 | 大腿骨湾曲 | 幅広い頭蓋骨縫合 | 平坦な後頭 | 循環性副甲状腺ホルモン(PTH) 値上昇 | 心筋症 | 成長障害 (成長不全) | 手関節の拡大 | 易骨折性の増加 | 歩行障害 | 歯エナメル質低形成 | 歯萠出遅延 | 汎アミノ酸尿 | 生後の成長遅滞 | 疎な骨梁 | 白血球増多症 | 筋虚弱 | 肋軟骨接合部の拡大 | 肝腫 | 脛骨湾曲 | 脾腫 | 腹部突出 | 薄い骨皮質 | 血清 calcitriol (1", "25-dihydroxycholecalciferol)低値 | 被刺激性 | 足関節の拡大 | 運動発達遅滞 | 骨由来アルカリホスファターゼ上昇 | 骨痛 | 骨端骨化遅延 | 骨軟化症" ] }, { "id": "NANDO:2201056", "label_en": "Oligoarticular juvenile idiopathic arthritis", "label_ja": "若年性特発性関節炎（少関節炎）", "yomigana": "じゃくねんせいとくはつせいかんせつえん（しょうかんせつえん）", "url": "http://nanbyodata.jp/ontology/NANDO_2201056", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [ "Abnormal circulating interleukin concentration | Abnormality of the ankle | Anterior chamber synechiae | Antinuclear antibody positivity | Arthritis | Autoimmunity | Band keratopathy | Cataract | Elevated erythrocyte sedimentation rate | Failure to thrive | Glaucoma | Joint hypermobility | Knee osteoarthritis | Reduced visual acuity | Rheumatoid arthritis | Severe postnatal growth retardation | Uveitis | Visual loss" ], "symptoms_ja_list": [ "インターロイキン分泌の異常 | ブドウ膜炎 | 中心視力減少 | 前房癒着 | 帯状角膜症 | 成長障害 (成長不全) | 抗核抗体陽性 | 白内障 | 緑内障 | 膝骨関節炎 | 自己免疫 | 視力喪失 | 赤沈値上昇 | 足関節の異常 | 重度の生後の成長遅滞 | 関節リウマチ | 関節炎 | 関節過動" ] }, { "id": "NANDO:1200842", "label_en": "Hepatic GSD type IIIa", "label_ja": "肝型糖原病IIIa型", "yomigana": "かんがたとうげんびょう3えーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200842", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200244", "label_en": "Acrodermatitis continua of Hallopeau", "label_ja": "稽留性肢端皮膚炎の汎発化", "yomigana": "けいりゅうせいしたんひふえんのはんぱつか", "url": "http://nanbyodata.jp/ontology/NANDO_1200244", "notificationNumber": "37", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Autosomal recessive inheritance | Childhood onset | Elevated circulating C-reactive protein concentration | Erythema | Fever | Furrowed tongue | Increased total leukocyte count | Increased total neutrophil count | Infantile onset | Juvenile onset | Nail dystrophy | Neonatal onset | Parakeratosis | Polyarticular arthritis | Psoriasiform dermatitis | Pustule | Young adult onset" ], "symptoms_ja_list": [ "CRP 上昇 | 不全角化症 | 乾癬 | 多関節関節炎 | 好中球増多症 | 常染色体潜性遺伝 | 溝舌 | 爪ジストロフィー | 発熱 | 白血球増多症 | 紅斑 | 膿疱" ] }, { "id": "NANDO:2200463", "label_en": "Neonatal diabetes mellitus", "label_ja": "新生児糖尿病", "yomigana": "しんせいじとうにょうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200463", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200824", "label_en": "Glycogen storage diseases type 0", "label_ja": "筋型糖原病0型", "yomigana": "きんがたとうげんびょう0がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200824", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of the gastrointestinal tract | Autosomal recessive inheritance | Elevated circulating hepatic transaminase concentration | Failure to thrive | Fasting hypoglycemia | Global developmental delay | Glycosuria | Hyperlipidemia | Increased circulating lactate concentration | Irritability | Ketonuria | Ketosis | Ketotic hypoglycemia | Lethargy | Neonatal hypoglycemia | Postprandial hyperglycemia | Seizure | Short stature" ], "symptoms_ja_list": [ "ケトン尿 | ケトン性低血糖 | ケトン症 | 低身長 | 全般性発達遅滞 | 尿糖 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 新生児低血糖 | 無気力 | 発作 | 空腹時低血糖 | 肝トランスアミナーゼ上昇 | 胃腸管の異常 | 血清乳酸増加 | 被刺激性 | 食後高血糖 | 高脂血症" ] }, { "id": "NANDO:2100135", "label_en": "Precocious puberty", "label_ja": "思春期早発症", "yomigana": "ししゅんきそうはつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100135", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200792", "label_en": "Malpuech-Michels-Mingarelli-Carnevale syndrome", "label_ja": "3MC 症候群", "yomigana": "3えむしーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200792", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Abnormal anterior chamber morphology | Abnormal nasal morphology | Abnormal pinna morphology | Bilateral cryptorchidism | Blepharophimosis | Caudal appendage | Craniosynostosis | Diastasis recti | Downslanted palpebral fissures | Downturned corners of mouth | Epicanthus inversus | Hearing impairment | Highly arched eyebrow | Hip dislocation | Hyperlordosis | Hypertelorism | Intellectual disability | Large fleshy ears | Limited pronation/supination of forearm | Low-set ears | Orofacial cleft | Postnatal growth retardation | Ptosis | Radioulnar synostosis | Scoliosis | Spina bifida occulta | Supernumerary nipple | Telecanthus | Umbilical hernia" ], "symptoms_ja_list": [ "両側性停留精巣 | 両眼隔離 | 側弯 | 内眼角外方偏位 | 前弯 | 前弯回内/回外制限 | 前房の異常 | 副甲状腺乳頭 | 口腔裂 | 口角下垂 | 大きな肉厚の耳 | 尾部付属器 | 橈尺骨癒合 | 潜在性二分脊椎 | 生後の成長遅滞 | 異常な鼻形態 | 眼瞼下垂 | 眼瞼裂斜下 | 眼瞼裂狭小 | 知的障害 | 耳介の異常 | 耳介低位 | 股関節脱臼 | 腹直筋離開 | 臍ヘルニア | 逆内眼角贅皮 | 難聴 | 頭蓋合骨症 | 高位の弓形眉毛" ] }, { "id": "NANDO:1200392", "label_en": "Adult growth hormone deficiency", "label_ja": "成人GH 分泌不全症", "yomigana": "せいじんじーえいちぶんぴつふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200392", "notificationNumber": "78", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201511", "label_en": "Becker disease", "label_ja": "ベッカー病", "yomigana": "べっかーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201511", "notificationNumber": "98", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100306", "symptoms_en_list": [ "Autosomal recessive inheritance | Childhood onset | Dysphagia | EMG: myotonic runs | Juvenile onset | Muscle hypertrophy of the lower extremities | Muscle stiffness | Muscle weakness | Myalgia | Myotonia | Myotonia with warm-up phenomenon | Percussion myotonia | Skeletal muscle hypertrophy | Young adult onset" ], "symptoms_ja_list": [ "ウォームアップ減少を伴うミオトニア | ミオトニア | 下肢筋肥大 | 叩打性ミオトニア | 嚥下障害 | 常染色体潜性遺伝 | 筋痛 | 筋硬直 | 筋肥大 | 筋虚弱 | 筋電図: ミオトニア反応" ] }, { "id": "NANDO:2200595", "label_en": "Tyrosine hydroxylase deficiency", "label_ja": "チロシン水酸化酵素欠損症", "yomigana": "ちろしんすいさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200595", "notificationNumber": "52", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100170", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200432", "label_en": "Cryopyrin-associated periodic syndrome", "label_ja": "クリオピリン関連周期熱症候群", "yomigana": "くりおぴりんかんれんしゅうきねつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200432", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201201", "label_en": "GM2 gangliosidosis AB variant", "label_ja": "AB型GM2ガングリオシドーシス", "yomigana": "えーびーがたじーえむ2がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201201", "notificationNumber": "119", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal fear-induced behavior | Abnormal involuntary eye movements | Abnormal pyramidal sign | Anxiety | Apathy | Aspiration | Autosomal recessive inheritance | Axial hypotonia | Blindness | Cerebral atrophy | Cherry red spot of the macula | Chorea | Cognitive impairment | Dementia | Developmental regression | Dystonia | Exaggerated startle response | GM2-ganglioside accumulation | Generalized hypotonia | Global developmental delay | Hyperacusis | Hyperreflexia | Hypertonia | Hypotonia | Inappropriate behavior | Infantile onset | Loss of speech | Neurodegeneration | Paralysis | Poor head control | Postnatal growth retardation | Primitive reflex | Progressive spastic quadriplegia | Pseudobulbar signs | Seizure | Short stature | Spastic tetraparesis" ], "symptoms_ja_list": [ "Dementia | GM2-ganglioside 蓄積 | ジストニア | 不安 | 不適切行動 | 低身長 | 体幹の筋緊張低下 | 偽性球麻痺サイン | 全般性発達遅滞 | 全身性筋緊張低下 | 原始反射 (掌頤", "口とがらせ", "眉間) | 反射亢進 | 大脳萎縮 | 常染色体潜性遺伝 | 無関心", "感情鈍磨 | 生後の成長遅滞 | 異常な不随意眼運動 | 異常な恐怖/不安関連行動 | 痙性四肢不全麻痺 | 発作 | 発語喪失 | 発達退行 | 盲 | 神経変性 | 筋緊張亢進 | 筋緊張低下 | 聴覚過敏 | 舞踏病 | 誇張された驚愕反応 | 認知障害 | 誤嚥 | 進行性痙性四肢麻痺 | 錐体路運動機能の異常 | 頸定不全 | 麻痺 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2201174", "label_en": "Mucopolysaccharidosis type III A", "label_ja": "A型ムコ多糖症III型", "yomigana": "えーがたむこたとうしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201174", "notificationNumber": "131", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Asymmetric septal hypertrophy | Autosomal recessive inheritance | Childhood onset | Coarse facial features | Coarse hair | Dense calvaria | Diarrhea | Dysostosis multiplex | Global developmental delay | Growth abnormality | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hirsutism | Hyperactivity | Inguinal hernia | Intellectual disability | Joint stiffness | Ovoid thoracolumbar vertebrae | Recurrent upper respiratory tract infections | Scoliosis | Seizure | Sleep disturbance | Splenomegaly | Synophrys | Thickened ribs | Umbilical hernia" ], "symptoms_ja_list": [ "下痢 | 側弯 | 全般性発達遅滞 | 卵形胸腰椎 | 反復性上気道感染症 | 多動 | 多毛 | 多発性異骨症 | 尿中硫酸ヘパラン排泄 | 常染色体潜性遺伝 | 成長異常 | 濃い頭蓋冠 | 発作 | 睡眠障害 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 肋骨肥厚 | 肝腫 | 脾腫 | 臍ヘルニア | 連続眉毛 | 関節拘縮 | 難聴 | 非対称性中隔肥大 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200425", "label_en": "Polyangiitis nodosa", "label_ja": "結節性多発血管炎", "yomigana": "けっせつせいたはつけっかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200425", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100153", "symptoms_en_list": [ "Abdominal pain | Abnormal cardiovascular system morphology | Abnormal lung morphology | Abnormal skin morphology | Abnormality of the eye | Abnormality of the gastrointestinal tract | Abnormality of the kidney | Abnormality of the nervous system | Arthralgia | Cardiomyopathy | Cutis marmorata | Elevated circulating C-reactive protein concentration | Erythema | Fever | Hypertension | Morphological central nervous system abnormality | Myalgia | Pericarditis | Peripheral neuropathy | Pleuritis | Polyarticular arthritis | Sensory axonal neuropathy | Skin ulcer | Subcutaneous nodule | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | 中枢神経の形態異常 | 体重喪失 | 多関節関節炎 | 大理石皮膚 | 循環器系の形態異常 | 心外膜炎 | 心筋症 | 感覚性軸索ニューロパチー | 末梢神経ニューロパチー | 発熱 | 皮下結節 | 皮膚形態の異常 | 皮膚潰瘍 | 眼の異常 | 神経系の異常 | 筋痛 | 紅斑 | 肺の異常 | 胃腸管の異常 | 胸膜炎 | 腎異常 | 腹痛 | 関節痛 | 高血圧" ] }, { "id": "NANDO:2201363", "label_en": "Other chondrodysplasia punctata", "label_ja": "点状軟骨異形成症（その他）", "yomigana": "てんじょうなんこついけいせいしょう（そのた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201363", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200935", "label_en": "Congenital biliary dilatation", "label_ja": "先天性胆道拡張症", "yomigana": "せんてんせいたんどうかくちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200935", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200611", "label_en": "Autosomal dominant epidermolytic ichthyosis", "label_ja": "常染色体優性表皮融解性魚鱗癬", "yomigana": "じょうせんしょくたいゆうせいひょうひゆうかいせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200611", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Congenital bullous ichthyosiform erythroderma | Conjunctival hamartoma | Cutaneous photosensitivity | Erythroderma | Hyperkeratosis | Ichthyosis | Palmoplantar keratoderma | Poor appetite | Skin ulcer | Weight loss" ], "symptoms_ja_list": [ "体重喪失 | 先天性水泡性魚鱗癬型紅皮症 | 掌蹠角皮症 | 異常な皮膚水泡 | 皮膚光線過敏症 | 皮膚潰瘍 | 紅皮症 | 結膜過誤腫 | 過角化症 | 食思不振 | 魚鱗癬" ] }, { "id": "NANDO:2200316", "label_en": "Growth hormone deficiency caused by cerebral organic disorders", "label_ja": "成長ホルモン分泌不全性低身長症（脳の器質的原因によるものに限る。）", "yomigana": "せいちょうほるもんぶんぴつふぜんせいていしんちょうしょう（のうのきしつてきげんいんによるものにがぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200316", "notificationNumber": "45", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100113", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200943", "label_en": "Usher syndrome Type II", "label_ja": "アッシャー症候群2型", "yomigana": "あっしゃーしょうこうぐん2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200943", "notificationNumber": "303", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal electroretinogram | Abnormal vestibular function | Abnormality of the inner ear | Anxiety | Cataract | Color vision defect | Constriction of peripheral visual field | Depression | Fatigue | Gait imbalance | Iris hypopigmentation | Myopia | Nyctalopia | Peripheral visual field loss | Reduced visual acuity | Rod-cone dystrophy | Scotoma | Sensorineural hearing impairment | Sleep disturbance | Visual loss" ], "symptoms_ja_list": [ "うつ | 不均衡歩行 | 不安 | 中心視力減少 | 内耳の異常 | 前庭機能障害 | 夜盲症 | 感音難聴 | 暗点 | 末梢視野喪失 | 疲労 | 白内障 | 睡眠障害 | 網膜電図異常 | 色素性網膜炎 | 色覚異常 | 虹彩低色素 | 視力喪失 | 視野狭窄 | 近視" ] }, { "id": "NANDO:2200056", "label_en": "Rhabdomyosarcoma", "label_ja": "横紋筋肉腫", "yomigana": "おうもんきんにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200056", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200790", "label_en": "Factor In deficiency", "label_ja": "Factor I 欠損症", "yomigana": "ふぁくたーあいけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200790", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Childhood onset | Decreased circulating complement C3 concentration | Decreased circulating complement factor B concentration | Decreased circulating complement factor H concentration | Decreased circulating complement factor I concentration | Glomerulonephritis | Infantile onset | Juvenile onset | Pyelonephritis | Recurrent Haemophilus influenzae infection | Recurrent Neisseria meningitidis infection | Recurrent meningitis | Recurrent otitis media | Recurrent sinusitis | Recurrent skin infections | Recurrent streptococcus pneumoniae infections | Recurrent urinary tract infections | Renal insufficiency | Septic arthritis | Vasculitis" ], "symptoms_ja_list": [ "反復性インフルエンザ菌感染症 | 反復性ブドウ球菌感染症 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性尿路感染症 | 反復性皮膚感染症 | 反復性髄膜炎 | 反復性髄膜炎菌疾患 | 常染色体潜性遺伝 | 敗血症性関節炎 | 糸球体腎炎 | 腎不全 | 腎盂腎炎 | 血清補体 C3減少 | 血清補体 factor B減少 | 血清補体 factor H減少 | 血清補体 factor I 減少 | 血管炎" ] }, { "id": "NANDO:2200073", "label_en": "Adrenocortical carcinoma", "label_ja": "副腎皮質癌", "yomigana": "ふくじんひしつがん", "url": "http://nanbyodata.jp/ontology/NANDO_2200073", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abdominal pain | Abnormality of metabolism/homeostasis | Abnormality of reproductive system physiology | Abnormality of urine homeostasis | Adrenocortical carcinoma | Adrenocorticotropic hormone deficiency | Anxiety | Diabetes mellitus | Hyperhidrosis | Hypertension | Hypertrichosis | Hypokalemia | Increased body weight | Increased circulating aldosterone concentration | Increased circulating cortisol level | Increased urinary cortisol level | Irritability | Muscle weakness | Palpitations | Paradoxical increased cortisol secretion on dexamethasone suppression test | Striae distensae | Weight loss" ], "symptoms_ja_list": [ "デキサメサゾン抑制試験での逆説的コルチゾール分泌の増加 | 不安 | 代謝/ホメオスターシスの異常 | 伸展線 | 低カリウム血症 | 体重喪失 | 体重増加 | 副腎皮質刺激ホルモン欠乏症 | 副腎皮質癌 | 動悸 | 多毛症 | 多汗 | 尿中コルチゾール 値増加 | 尿平衡異常 | 循環性コルチゾール 値増加 | 性的生理異常 | 筋虚弱 | 糖尿病 | 腹痛 | 被刺激性 | 高アルドステロン症 | 高血圧" ] }, { "id": "NANDO:2201478", "label_en": "FGF23-related hypophosphatemic osteomalacia", "label_ja": "繊維芽細胞増殖因子23関連低リン血症性骨軟化症", "yomigana": "せんいがさいぼうぞうしょくいんし23かんれんていりんけっしょうせいこつなんかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201478", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100145", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200078", "label_en": "Pheochromocytoma", "label_ja": "褐色細胞腫", "yomigana": "かっしょくさいぼうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200078", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201195", "label_en": "Galactosialidosis, juvenile/adult form", "label_ja": "若年及び成人型ガラクトシアリドーシス", "yomigana": "じゃくねんおよびせいじんがたがらくとしありどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201195", "notificationNumber": "113", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200348", "label_en": "Pseudopseudohypoparathyroidism", "label_ja": "偽性偽性副甲状腺機能低下症", "yomigana": "ぎせいぎせいふくこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200348", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100126", "symptoms_en_list": [ "Autosomal dominant inheritance | Brachydactyly | Cataract | Cognitive impairment | Delayed eruption of teeth | Delayed speech and language development | Depressed nasal bridge | Ectopic ossification | Elevated circulating parathyroid hormone level | Enamel hypoplasia | Full cheeks | Hyperphosphatemia | Hypocalcemia | Intellectual disability | Intrauterine growth retardation | Nystagmus | Obesity | Osteoporosis | Pseudohypoparathyroidism | Round face | Short 4th metacarpal | Short 5th finger | Short 5th metacarpal | Short distal phalanx of the 3rd finger | Short distal phalanx of the thumb | Short metacarpal | Short metatarsal | Short neck | Short stature" ], "symptoms_ja_list": [ "丸い顔 | 低カルシウム血症 | 低身長 | 偽性副甲状腺機能低下症 | 大きな頬 | 子宮内成長遅滞 | 常染色体顕性遺伝 | 循環性副甲状腺ホルモン(PTH) 値上昇 | 歯エナメル質低形成 | 歯萠出遅延 | 異所性骨化 | 発語および言語発達遅延 | 白内障 | 眼振 | 知的障害 | 短い中手骨 | 短い中足骨 | 短い母指末節骨 | 短い第3指末節骨 | 短い第4中手骨 | 短い第5中手骨 | 短い第5指 | 短い頸部 | 短指症候群 | 肥満 | 落ちくぼんだ鼻梁 | 認知障害 | 骨粗鬆症 | 高リン血漿" ] }, { "id": "NANDO:2200296", "label_en": "Coronary artery fistula", "label_ja": "冠動脈瘻", "yomigana": "かんどうみゃくろう", "url": "http://nanbyodata.jp/ontology/NANDO_2200296", "notificationNumber": "69", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100102", "symptoms_en_list": [ "Abnormal EKG | Abnormal heart morphology | Abnormal left ventricular function | Angina pectoris | Aortic valve stenosis | Arrhythmia | Atrial septal defect | Bacterial endocarditis | Bicuspid aortic valve | Cardiomegaly | Congestive heart failure | Exertional dyspnea | Orthopnea | Palpitations | Patent ductus arteriosus | Patent foramen ovale | Pedal edema | Pulmonary arterial hypertension | Right ventricular dilatation | Syncope | Tachycardia | Tachypnea | Vascular dilatation" ], "symptoms_ja_list": [ "うっ血性心不全 | 不整脈 | 二弁性大動脈弁 | 動悸 | 動脈瘤 | 動脈管開存症 | 卵円孔開存 | 右室拡張 | 多呼吸 | 大動脈弁狭窄 | 失心 | 左室機能障害 | 心形態の異常 | 心房中隔欠損 | 心拡大 | 心電図異常 | 浮腫 (下肢) | 狭心症 | 細菌性心内膜炎 | 肺高血圧 | 起坐呼吸 | 運動性呼吸困難 | 頻拍" ] }, { "id": "NANDO:2201031", "label_en": "Primary lymphedema", "label_ja": "原発性リンパ浮腫", "yomigana": "げんぱつせいりんぱふしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2201031", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200873", "label_en": "Osteogenesis imperfecta", "label_ja": "骨形成不全症", "yomigana": "こつけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200873", "notificationNumber": "274", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal cortical bone morphology | Abnormal dental enamel morphology | Abnormal endocardium morphology | Abnormal femur morphology | Abnormal hip bone morphology | Abnormal long bone morphology | Abnormal metaphysis morphology | Abnormal rib morphology | Abnormal tibia morphology | Abnormal vertebral body morphology | Abnormality of dental color | Abnormality of the dentition | Anxiety | Aortic aneurysm | Aortic dissection | Aortic regurgitation | Aortic root aneurysm | Arterial dissection | Arthralgia | Ataxia | Basilar invagination | Biconcave vertebral bodies | Blue sclerae | Bone pain | Bowing of the long bones | Brachycephaly | Brain stem compression | Bruising susceptibility | Carious teeth | Cerebral hemorrhage | Cervical kyphosis | Constipation | Convex nasal ridge | Corneal opacity | Cranial nerve paralysis | Cutis laxa | Decreased skull ossification | Delayed eruption of teeth | Dental malocclusion | Dentinogenesis imperfecta | Diaphyseal undertubulation | Dislocated radial head | Dysphagia | Enlarged vertebral pedicles | Exercise intolerance | Fatigue | Femoral bowing | Flexion contracture | Gait disturbance | Genu valgum | Glaucoma | Growth delay | Headache | Hearing impairment | Hydrocephalus | Hypercalciuria | Hyperhidrosis | Increased susceptibility to fractures | Inguinal hernia | Intestinal obstruction | Intrauterine growth retardation | Joint hypermobility | Kidney stone | Kyphosis | Large fontanelles | Loss of ambulation | Macrocephaly | Micrognathia | Micromelia | Mitral valve prolapse | Mixed hearing impairment | Morphological central nervous system abnormality | Multiple rib fractures | Narrow chest | Neonatal respiratory distress | Noncommunicating hydrocephalus | Nystagmus | Osteoarthritis | Osteopenia | Osteoporosis | Paresthesia | Pectus carinatum | Pectus excavatum | Progressive hearing impairment | Prominent occiput | Protrusio acetabuli | Pulmonary hypoplasia | Recurrent fractures | Recurrent long bone fractures | Reduced bone mineral density | Relative macrocephaly | Rhizomelia | Scoliosis | Short stature | Slender long bone | Small for gestational age | Somatic sensory dysfunction | Syringomyelia | Tetraparesis | Thin ribs | Thoracic hypoplasia | Thrombocytopenia | Triangular face | Trigeminal neuralgia | Umbilical hernia | Ventriculomegaly | Vertebral compression fracture | Visceral angiomatosis | Visual impairment | Wormian bones" ], "symptoms_ja_list": [ "はと胸 | ウォルム氏骨 | 三叉神経痛 | 三角形の顔 | 不安 | 不正咬合 | 両凹の椎体骨 | 中枢神経の形態異常 | 低身長 | 便秘 | 側弯 | 僧帽弁逸脱 | 内臓血管腫症 | 凸の鼻梁 | 出血傾向 | 動脈解離 | 反復性骨折 | 嚥下障害 | 四肢不全麻痺 | 四肢近位短縮 | 在胎月齢より小さい児 | 外反膝 | 多汗 | 多発性肋骨骨折 | 大きな泉門 | 大動脈基部拡大 | 大動脈瘤 | 大動脈解離 | 大動脈逆流 | 大脳出血 | 大腿骨の異常 | 大腿骨湾曲 | 大頭 | 子宮内成長遅滞 | 寛骨の異常 | 寛骨臼突出 | 小肢症 | 小顎 | 屈曲拘縮 | 弛緩性皮膚 | 後弯 | 循環器系の形態異常 | 心内膜の異常 | 感覚異常 | 感覚障害 | 成長遅滞 | 新生児呼吸窮迫 | 易骨折性の増加 | 椎体骨形態異常 | 橈骨頭脱臼 | 歩行障害 | 歯の異常 | 歯エナメル質異常 | 歯色の異常 | 歯萠出遅延 | 比較的大頭 | 水頭症 | 混合性難聴 | 漏斗胸 | 狭い胸郭 | 疲労 | 目立つ後頭 | 眼振 | 短頭 | 細い肋骨 | 細い長管骨 | 緑内障 | 肋骨の異常 | 肺低形成 | 胸郭低形成 | 脊椎圧迫骨折 | 脊椎椎弓根の拡大 | 脊髄空洞症 | 脛骨の異常 | 脳室拡大 | 脳幹圧迫 | 脳神経麻痺 | 腎結石 | 腸閉塞 | 臍ヘルニア | 血小板減少 | 視力障害 | 角膜混濁 | 象牙質形成不全 | 進行性歩行不安定 | 進行性難聴 | 運動不耐症 | 運動失調 | 長管骨形態の異常 | 長管骨湾曲 | 長管骨骨折 | 関節痛 | 関節過動 | 難聴 | 青色胸膜 sclerae | 非交通性水頭症 | 頚椎後弯 | 頭痛 | 頭蓋底嵌頓 | 頭蓋骨骨化減少 | 骨ミネラル濃度減少 | 骨幹の肥厚 | 骨幹端の異常 | 骨減少症 | 骨痛 | 骨皮質形態異常 | 骨粗鬆症 | 骨関節炎 | 高カルシウム尿 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2201058", "label_en": "Rheumatoid factor-positive juvenile idiopathic arthritis", "label_ja": "若年性特発性関節炎（リウマトイド因子陽性多関節炎）", "yomigana": "じゃくねんせいとくはつせいかんせつえん（りうまといどいんしようせいたかんせつえん）", "url": "http://nanbyodata.jp/ontology/NANDO_2201058", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [ "Abnormal circulating interleukin concentration | Abnormal epiphysis morphology | Abnormal limb bone morphology | Arthralgia | Arthritis | Asymmetric growth | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Interphalangeal joint erosions | Joint swelling | Limitation of joint mobility | Osteopenia | Polyarticular arthritis | Premature epimetaphyseal fusion | Progressive joint destruction | Reduced bone mineral density | Rheumatoid factor positive | Synovitis" ], "symptoms_ja_list": [ "CRP 上昇 | インターロイキン分泌の異常 | リウマチ因子陽性 | 四肢骨形態の異常 | 多関節関節炎 | 指間(IP)関節びらん | 早発性骨端骨幹端癒合 | 滑膜炎 | 赤沈値上昇 | 進行性関節破壊 | 関節炎 | 関節痛 | 関節腫脹 | 関節運動制限 | 非対称性成長 | 骨ミネラル濃度減少 | 骨減少症 | 骨端の異常" ] }, { "id": "NANDO:2200853", "label_en": "Spinal muscular atrophy", "label_ja": "脊髄性筋萎縮症", "yomigana": "せきずいせいきんいしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200853", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100231", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100196", "label_en": "Inherited bleeding disorder ", "label_ja": "先天性血液凝固因子異常", "yomigana": "せんてんせいけつえきぎょうこいんしいじょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100196", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201464", "label_en": "Rectosigmoid Hirschsprung's disease", "label_ja": "S状結腸型ヒルシュスプルング病", "yomigana": "えすじょうけっちょうがたひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201464", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100275", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Aganglionic megacolon | Constipation | Diarrhea | Enterocolitis | Failure to thrive in infancy | Feeding difficulties | Functional abnormality of the gastrointestinal tract | Growth delay | Intestinal obstruction | Nausea and vomiting | Polyhydramnios | Sepsis | Short stature | Weight loss" ], "symptoms_ja_list": [ "下痢 | 乳児期の成長障害 (成長不全) | 低身長 | 体重喪失 | 便秘 | 吐気と 嘔吐 | 小腸結腸炎 | 成長遅滞 | 敗血症 | 無神経節性巨大結腸 | 羊水過多 | 胃腸管機能異常 | 腸閉塞 | 腹痛 | 腹部膨満 | 食餌摂取障害" ] }, { "id": "NANDO:1200533", "label_en": "Dystonia 20", "label_ja": "DYT20ジストニア", "yomigana": "でぃーわいてぃー20じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200533", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal dominant inheritance | Migraine | Paroxysmal dystonia | Seizure | Typified by incomplete penetrance" ], "symptoms_ja_list": [ "偏頭痛 | 常染色体顕性遺伝 | 発作 | 発作性ジストニア" ] }, { "id": "NANDO:1200548", "label_en": "Frontotemporal lobar degeneration", "label_ja": "前頭側頭葉変性症", "yomigana": "ぜんとうそくとうようへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200548", "notificationNumber": "127", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200597", "label_en": "Ring chromosome 20 syndrome", "label_ja": "環状20番染色体症候群", "yomigana": "かんじょう20ばんせんしょくたいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200597", "notificationNumber": "150", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Atypical behavior | EEG abnormality | Epileptic encephalopathy | Focal motor seizure | Growth delay | Intellectual disability | Mental deterioration | Neurodevelopmental delay | Short attention span | Specific learning disability" ], "symptoms_ja_list": [ "てんかん性脳症 | 成長遅滞 | 焦点性運動発作 | 特異的学習障害 | 知的障害 | 知能悪化 | 短い注意期間 | 神経発生遅延 | 脳波異常 | 行動異常" ] }, { "id": "NANDO:1200758", "label_en": "Peroxisomal disorder", "label_ja": "ペルオキシソーム病", "yomigana": "ぺるおきしそーむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200758", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200299", "label_en": "Hepatitis-associated aplastic anemia", "label_ja": "肝炎後再生不良性貧血", "yomigana": "かんえんごさいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200299", "notificationNumber": "60", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200258", "label_en": "Complete transposition of the great arteries", "label_ja": "完全大血管転位症", "yomigana": "かんぜんだいけっかんてんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200258", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100078", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1100010", "label_en": "Respiratory disease", "label_ja": "呼吸器系疾患", "yomigana": "こきゅうきけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100010", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201004", "label_en": "Congenital subglottic stenosis", "label_ja": "先天性声門下狭窄症", "yomigana": "せんてんせいせいもんかきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201004", "notificationNumber": "330", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201168", "label_en": "Adult type Ebstein’s anomaly", "label_ja": "成人型エプスタイン病", "yomigana": "せいじんがたえぷすたいんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201168", "notificationNumber": "217", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200497", "label_en": "Myotonia congenita", "label_ja": "先天性ミオトニー", "yomigana": "せんてんせいみおとにー", "url": "http://nanbyodata.jp/ontology/NANDO_1200497", "notificationNumber": "114", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Arrhythmia | Clumsiness | Dysphagia | EMG abnormality | EMG: myopathic abnormalities | EMG: myotonic discharges | Feeding difficulties in infancy | Muscle spasm | Muscle stiffness | Myalgia | Myotonia | Myotonia with warm-up phenomenon | Progressive distal muscle weakness | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "ウォームアップ減少を伴うミオトニア | ミオトニア | 不器用 | 不整脈 | 嚥下障害 | 筋けいれん | 筋痛 | 筋硬直 | 筋肥大 | 筋電図: ミオトニア放電 | 筋電図: ミオパチー異常 | 筋電図異常 | 進行性遠位筋虚弱 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200066", "label_en": "GM1 gangliosidosis", "label_ja": "GM1ガングリオシドーシス", "yomigana": "じーえむ1がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200066", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal diaphysis morphology | Abnormal epiphysis morphology | Abnormal heart morphology | Abnormal metaphysis morphology | Abnormal retinal vascular morphology | Abnormal scrotum morphology | Abnormal speech pattern | Abnormal vertebral body morphology | Abnormality of extrapyramidal motor function | Abnormality of movement | Abnormality of the skeletal system | Abnormality of the skin | Aplasia/Hypoplasia of the abdominal wall musculature | Arthralgia | Aspiration pneumonia | Ataxia | Blindness | Broad nasal tip | Camptodactyly of finger | Cardiomyopathy | Cherry red spot of the macula | Coarse facial features | Coarse metaphyseal trabecularization | Cognitive impairment | Congestive heart failure | Corneal opacity | Decreased beta-galactosidase activity | Depressed nasal bridge | Depressed nasal ridge | Developmental regression | Dysostosis multiplex | Dysphagia | Dystonia | Failure to thrive | Feeding difficulties | Frontal bossing | Gait disturbance | Ganglioside accumulation | Gastroesophageal reflux | Gastroschisis | Gastrostomy tube feeding in infancy | Generalized dystonia | Generalized hirsutism | Generalized hypotonia | Gingival overgrowth | Global developmental delay | Hepatosplenomegaly | Hirsutism | Hydrops fetalis | Hyperlordosis | Hyperreflexia | Hypotonia | Infectious encephalitis | Inguinal hernia | Joint stiffness | Kyphosis | Limb undergrowth | Long philtrum | Low-set ears | Macroglossia | Macrotia | Mandibular prognathia | Morphological central nervous system abnormality | Narrow mouth | Nystagmus | Optic atrophy | Oral aversion | Patent ductus arteriosus | Platyspondyly | Premature birth | Recurrent respiratory infections | Scoliosis | Seizure | Short stature | Skeletal dysplasia | Spasticity | Splenomegaly | Strabismus | Thickened skin | Tremor | Unsteady gait | Ventricular septal defect | Weight loss" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | うっ血性心不全 | ガングリオシド代謝の異常 | ジストニア | 下顎突出 | 不安定歩行 | 中枢神経の形態異常 | 乳児期の胃瘻管栄養 | 低身長 | 体重喪失 | 側弯 | 全般性発達遅滞 | 全身性ジストニア | 全身性多毛 | 全身性筋緊張低下 | 分厚い皮膚 | 前弯 | 前頭突出", "額突出 | 動脈管開存症 | 反射亢進 | 反復性呼吸器感染症 | 口嫌悪 | 嚥下障害 | 四肢成長不全 | 多毛 | 多発性異骨症 | 大耳 | 大脳白質の異常 | 屈指 | 巨舌 | 幅広い鼻尖 | 後弯 | 心室中隔欠損 | 心形態の異常 | 心筋症 | 成長障害 (成長不全) | 扁平脊椎 | 振戦 | 斜視 | 早産 | 椎体骨形態異常 | 歩行障害 | 歯肉過成長 | 狭い口 | 痙性 | 発作 | 発達退行 | 皮膚の異常 | 盲 | 眼振 | 神経学的発語障害 | 筋緊張低下 | 粗い骨梁 | 粗な顔貌 | 網膜血管の異常 | 耳介低位 | 肝脾腫 | 胃食道逆流 | 胎児水腫 | 脳炎 | 脾腫 | 腹壁破裂 | 腹壁筋無形成/低形成 | 落ちくぼんだ鼻梁 | 視神経萎縮 | 角膜混濁 | 認知障害 | 誤嚥性肺炎 | 運動の異常 | 運動失調 | 錐体外路運動機能の異常 | 長い人中 | 関節拘縮 | 関節痛 | 陰嚢異常 | 食餌摂取障害 | 骨幹形態異常 | 骨幹端の異常 | 骨格の異常 | 骨格異形成 | 骨端の異常 | 黄斑のチェリーレッド斑 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200225", "label_en": "Neurofibromatosis", "label_ja": "神経線維腫症", "yomigana": "しんけいせんいしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200225", "notificationNumber": "34", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal electroretinogram | Abnormal eyelid morphology | Abnormal hair quantity | Abnormal hip bone morphology | Abnormal retinal pigmentation | Abnormal speech pattern | Abnormality of the endocrine system | Abnormality of the eye | Abnormality of the nervous system | Abnormality of the respiratory system | Abnormality of the skeletal system | Abnormality of the upper urinary tract | Abnormality of vision | Aqueductal stenosis | Arterial stenosis | Astrocytoma | Ataxia | Atrial septal defect | Attention deficit hyperactivity disorder | Autistic behavior | Autosomal dominant inheritance | Axillary freckling | Breast carcinoma | Carcinoid tumor | Cataract | Cerebellar glioma | Childhood onset | Chorioretinal coloboma | Chronic myelogenous leukemia | Coarctation of aorta | Colon cancer | Corneal opacity | Cryptorchidism | Delayed puberty | Downslanted palpebral fissures | Embryonal rhabdomyosarcoma | Few cafe-au-lait spots | Freckling | Gastrointestinal stroma tumor | Generalized hyperpigmentation | Genu valgum | Genu varum | Glaucoma | Glioma | Headache | Hearing abnormality | Hearing impairment | Heterochromia iridis | Hydrocephalus | Hypertelorism | Hypertension | Hypertrophic cardiomyopathy | Hypopigmented skin patches | Hypsarrhythmia | Infantile onset | Joint stiffness | Kyphosis | Leukemia | Lipoma | Lisch nodules | Low-set ears | Macrocephaly | Macule | Malignant peripheral nerve sheath tumor | Medullary thyroid carcinoma | Melanocytic nevus | Memory impairment | Meningioma | Mild intellectual disability | Mitral stenosis | Multiple cafe-au-lait spots | Multiple lipomas | Myopia | Neoplasm | Neoplasm of the breast | Neoplasm of the gastrointestinal tract | Neoplasm of the skin | Neurofibroma | Optic nerve glioma | Osteopenia | Overgrowth | Parathyroid adenoma | Paresthesia | Pectus carinatum | Pectus excavatum | Pericarditis | Pheochromocytoma | Plexiform neurofibroma | Precocious puberty | Proptosis | Pulmonic stenosis | Recurrent fractures | Renal artery stenosis | Rhabdomyosarcoma | Sarcoma | Scoliosis | Seizure | Short stature | Skeletal dysplasia | Slender long bone | Specific learning disability | Spina bifida | Spinal neurofibroma | Subcutaneous nodule | Tall stature | Tibial pseudarthrosis | Urinary tract neoplasm | Ventricular septal defect | Visual impairment | Webbed neck" ], "symptoms_ja_list": [ "Lisch 結節 | はと胸 | カルチノイド | ヒプスアリスミア | メラニン細胞母斑 | 上部尿路異常 | 両眼隔離 | 乳房新生物 | 乳房癌 | 二分脊椎 | 低色素性皮膚斑 | 低身長 | 停留精巣 | 側弯 | 僧帽弁狭窄 | 全身性高色素 | 内分泌系異常 | 内反膝 | 副甲状腺腺腫 | 動脈狭窄 | 反復性骨折 | 叢状神経線維腫 | 呼吸器の異常 | 外反膝 | 多発性カフェオーレ斑 | 多発性脂肪腫 | 大動脈縮窄 | 大頭 | 寛骨の異常 | 小脳膠腫 | 少数のカフェオーレ斑 | 尿路新生物 | 常染色体顕性遺伝 | 後弯 | 心外膜炎 | 心室中隔欠損 | 心房中隔欠損 | 思春期早発 | 思春期遅発 | 感覚異常 | 慢性骨髄性白血病 | 斑 | 新生物 | 星状細胞腫 | 横紋筋肉腫 | 水道狭窄 | 水頭症 | 注意力欠陥多動性疾患 | 漏斗胸 | 特異的学習障害 | 甲状腺髄様癌 | 異常な毛髪量 | 発作 | 白内障 | 白血病 | 皮下結節 | 皮膚新生物 | 眼の異常 | 眼球突出 | 眼瞼の異常 | 眼瞼裂斜下 | 知的障害", "軽度 | 神経学的発語障害 | 神経系の異常 | 神経線維肉腫 | 神経線維腫 | 細い長管骨 | 結腸癌 | 網膜色素異常 | 網膜電図異常 | 緑内障 | 翼状頚 | 耳介低位 | 聴覚異常 | 肉腫 | 肥大型心筋症 | 肺動脈狭窄 | 胃腸管新生物 | 胃腸間質腫瘍 | 胎児性平滑筋肉腫 | 脂肪腫 | 脈絡膜網膜コロボーマ | 脊椎神経線維腫 | 脛骨偽関節 | 腋窩色素斑 | 腎動脈狭窄 | 膠腫 | 自閉性行動 | 色素斑 | 虹彩異色症 | 褐色細胞腫 | 視力障害 | 視神経膠腫 | 視覚の異常 | 角膜混濁 | 記憶障害 | 近視 | 運動失調 | 過成長 | 関節拘縮 | 難聴 | 頭痛 | 骨格の異常 | 骨格異形成 | 骨減少症 | 髄膜腫 | 高血圧 | 高身長" ] }, { "id": "NANDO:1200507", "label_en": "Symptomatic syringomyelia", "label_ja": "症候性脊髄空洞症", "yomigana": "しょうこうせいせきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200507", "notificationNumber": "117", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201472", "label_en": "Non-cirrhotic portal hypertension", "label_ja": "非肝硬変性門脈圧亢進症", "yomigana": "ひかんこうへんせいもんみゃくあつこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201472", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100269", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200055", "label_en": "Lysosomal storage disease", "label_ja": "ライソゾーム病", "yomigana": "らいそぞーむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200055", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200423", "label_en": "Respiratory bronchiolitis-associated interstitial lung disease", "label_ja": "呼吸細気管支炎関連間質性肺炎", "yomigana": "こきゅうさいきかんしえんかんれんかんしつせいはいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200423", "notificationNumber": "85", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Autosomal recessive inheritance | Cor pulmonale | Cough | Cyanosis | Desquamative interstitial pneumonitis | Failure to thrive | Infantile onset | Recurrent upper respiratory tract infections | Respiratory distress | Respiratory failure | Tachypnea | Tubulointerstitial fibrosis" ], "symptoms_ja_list": [ "チアノーゼ | 代謝/ホメオスターシスの異常 | 剥離性間質性肺炎 | 反復性上気道感染症 | 呼吸不全 | 呼吸窮迫 | 外層 | 多呼吸 | 尿細管間質 線維症 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 肺性心" ] }, { "id": "NANDO:2100178", "label_en": "Congenital dyserythropoietic anemia", "label_ja": "先天性赤血球形成異常性貧血", "yomigana": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2100178", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200475", "label_en": "Hypermethioninemia", "label_ja": "高メチオニン血症", "yomigana": "こうめちおにんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200475", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100087", "label_en": "Ventricular septal defect", "label_ja": "心室中隔欠損症", "yomigana": "しんしつちゅうかくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100087", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200854", "label_en": "Tangier disease", "label_ja": "タンジール病", "yomigana": "たんじーるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200854", "notificationNumber": "261", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal pain | Accelerated atherosclerosis | Anemia | Atherosclerosis | Autosomal recessive inheritance | Carotid artery stenosis | Chronic noninfectious lymphadenopathy | Corneal opacity | Coronary artery atherosclerosis | Coronary artery stenosis | Decreased circulating HDL-C concentration | Distal amyotrophy | Distal muscle weakness | Dry skin | Ectropion | Facial diplegia | Hepatomegaly | Hepatosplenomegaly | Hypertriglyceridemia | Hypocholesterolemia | Hyporeflexia | Impaired pain sensation | Impaired temperature sensation | Left ventricular hypertrophy | Myocardial infarction | Nail dysplasia | Nail dystrophy | Opacification of the corneal stroma | Peripheral axonal neuropathy | Peripheral demyelination | Progressive peripheral neuropathy | Splenomegaly | Syringomyelia | Thrombocytopenia | Visual impairment" ], "symptoms_ja_list": [ "乾いた皮膚 | 低コレステロール血症 | 冠動脈 狭窄 | 冠動脈疾患 | 動脈硬化症 | 動脈硬化症促進 | 反射低下 | 外反(眼瞼) | 左室肥大 | 常染色体潜性遺伝 | 心筋梗塞 | 慢性非感染性リンパ節腫大; | 末梢神経脱髄 | 末梢神経軸索ニューロパチー | 温度覚障害 | 爪ジストロフィー | 爪異形成 | 痛覚障害 | 肝脾腫 | 肝腫 | 脊髄空洞症 | 脾腫 | 腹痛 | 血小板減少 | 視力障害 | 角膜混濁 | 角膜間質混濁形成 | 貧血 | 進行性末梢神経ニューロパチー | 遠位筋萎縮 | 遠位筋虚弱 | 頚動脈狭窄 | 顔面両麻痺 | 高αリポ蛋白血症 | 高トリグリセリド血症" ] }, { "id": "NANDO:2200505", "label_en": "Glycerol kinase deficiency", "label_ja": "グリセロール尿症", "yomigana": "ぐりせろーるにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200505", "notificationNumber": "96", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Adrenal insufficiency | Adrenocortical hypoplasia | Adult onset | Childhood onset | Chronic pancreatitis | Coma | Cryptorchidism | Downturned corners of mouth | Episodic vomiting | Frontal bossing | Global developmental delay | Growth delay | Hypertelorism | Hypertriglyceridemia | Hypoglycemia | Increased circulating lactate concentration | Intellectual disability | Juvenile onset | Ketoacidosis | Lethargy | Loss of consciousness | Low-set ears | Metabolic acidosis | Muscular dystrophy | Myalgia | Myopathy | Nausea | Osteoporosis | Pathologic fracture | Seizure | Short stature | Small for gestational age | Strabismus | Vomiting | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | ケトアシドーシス | ミオパチー | 両眼隔離 | 代謝性アシドーシス | 低血糖 | 低身長 | 停留精巣 | 全般性発達遅滞 | 前頭突出", "額突出 | 副腎不全 | 副腎皮質低形成 | 口角下垂 | 吐気 | 嘔吐 | 嘔吐エピソード | 在胎月齢より小さい児 | 意識喪失 | 慢性膵炎 | 成長遅滞 | 斜視 | 昏睡 | 無気力 | 病的骨折 | 発作 | 知的障害 | 筋ジストロフィー | 筋痛 | 耳介低位 | 血清乳酸増加 | 骨粗鬆症 | 高トリグリセリド血症" ] }, { "id": "NANDO:2200687", "label_en": "Alpha-2-plasmin inhibitor deficiency", "label_ja": "先天性α2-プラスミンインヒビター欠乏症", "yomigana": "せんてんせいあるふぁ2ぷらすみんいんひびたーけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200687", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Abnormal bleeding | Abnormal umbilical stump bleeding | Autosomal recessive inheritance | Bone pain | Bruising susceptibility | Gingival bleeding | Hematuria | Hemothorax | Intracranial hemorrhage | Intramuscular hematoma | Joint hemorrhage | Persistent bleeding after trauma" ], "symptoms_ja_list": [ "出血傾向 | 外傷後の持続性出血 | 常染色体潜性遺伝 | 歯肉出血 | 異常な出血 | 異常な臍帯断端出血 | 筋内血腫 | 血尿 | 血性胸郭 | 関節出血 | 頭蓋内出血 | 骨痛" ] }, { "id": "NANDO:2200220", "label_en": "Verapamil sensitive ventricular tachycardia", "label_ja": "ベラパミル感受性心室頻拍", "yomigana": "べらぱみるかんじゅせいしんしつひんぱく", "url": "http://nanbyodata.jp/ontology/NANDO_2200220", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100049", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201337", "label_en": "Pfeiffer syndrome (coronal synostosis)", "label_ja": "ファイファー症候群（冠状縫合）", "yomigana": "ふぁいふぁーしょうこうぐん（かんじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201337", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200667", "label_en": "β-1 tubulin disorders", "label_ja": "β1 tubulin 異常症", "yomigana": "べーた1ちゅーぶりんいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200667", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201124", "label_en": "Hereditary apolipoprotein A-I amyloidosis", "label_ja": "遺伝性アポリポ蛋白 A-I アミロイドーシス", "yomigana": "いでんせいあぽりぽたんぱくえー1あみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201124", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200588", "label_en": "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "label_ja": "海馬硬化を伴う内側側頭葉てんかん", "yomigana": "かいばこうかをともなうないそくそくとうようてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200588", "notificationNumber": "141", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200442", "label_en": "Typical autoimmune hepatitis", "label_ja": "自己免疫性肝炎（典型例）", "yomigana": "じこめんえきせいかんえん（てんけいれい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200442", "notificationNumber": "95", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abdominal pain | Acute hepatitis | Anti-smooth muscle antibody positivity | Antineutrophil antibody positivity | Antinuclear antibody positivity | Anxiety | Arthralgia | Arthritis | Ascites | Chronic fatigue | Cirrhosis | Depression | Diffuse hepatic steatosis | Elevated circulating hepatic transaminase concentration | Fulminant hepatitis | Gastrointestinal hemorrhage | Glomerulonephritis | Hepatocellular carcinoma | Increased circulating IgG concentration | Increased circulating immunoglobulin concentration | Increased total bilirubin | Inflammation of the large intestine | Jaundice | Spider hemangioma | Splenomegaly | Thyroiditis | Ulcerative colitis | Viral hepatitis | Vitiligo" ], "symptoms_ja_list": [ "IgG 値増加 | うつ | くも状血管腫 | びまん性脂肪肝 | ウイルス性肝炎 | 不安 | 大腸の炎症 | 平滑筋 抗体陽性 | 急性肝炎 | 慢性疲労 | 抗好中球抗体陽性 | 抗核抗体陽性 | 潰瘍性大腸炎 | 激症肝炎 | 甲状腺炎 | 白斑 | 糸球体腎炎 | 総ビリルビン増加 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝細胞癌 | 胃腸出血 | 脾腫 | 腹水 | 腹痛 | 関節炎 | 関節痛 | 高ガンマグロブリン血症 | 黄疸" ] }, { "id": "NANDO:2201152", "label_en": "Glycogen storage disease type 0b", "label_ja": "糖原病0b型", "yomigana": "とうげんびょう0びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201152", "notificationNumber": "61", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Cardiomyopathy | Decreased muscle glycogen content | Difficulty climbing stairs | Exercise intolerance | Exertional dyspnea | Left ventricular hypertrophy | Myalgia | Ragged-red muscle fibers | Seizure | Skeletal myopathy | Stroke | Sudden cardiac death | Syncope" ], "symptoms_ja_list": [ "Ragged-red 筋線維 | 全身性間代性強直性発作 | 卒中 | 失心 | 左室肥大 | 常染色体潜性遺伝 | 心筋症 | 発作 | 突然心臓死 | 筋グリコーゲン量減少 | 筋痛 | 運動不耐症 | 運動性呼吸困難 | 階段の登り困難 | 骨格筋ミオパチー" ] }, { "id": "NANDO:1200071", "label_en": "Tay-Sachs disease", "label_ja": "テイ・サックス病", "yomigana": "ていさっくすびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200071", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal thalamic MRI signal intensity | Abnormality of eye movement | Abnormality of glycolipid metabolism | Absent speech | Ankle clonus | Anxiety | Apathy | Aspiration | Aspiration pneumonia | Atypical behavior | Autosomal recessive inheritance | Blindness | Cerebellar atrophy | Cherry red spot of the macula | Clumsiness | Dementia | Depression | Developmental regression | Difficulty climbing stairs | Distal muscle weakness | Distal upper limb muscle weakness | Drooling | Dysarthria | Dysmetria | Dysphagia | Dystonia | Elevated circulating beta-hexosaminidase activity | Exaggerated startle response | Fasciculations | Focal impaired awareness seizure | Frequent falls | Functional motor deficit | GM2-ganglioside accumulation | Gait disturbance | Gastrostomy tube feeding in infancy | Generalized hypotonia | Gliosis | Global brain atrophy | Hearing impairment | Hepatosplenomegaly | Hip flexor weakness | Hyperreflexia | Hypertonia | Hypointensity of cerebral white matter on MRI | Hypotonia | Inability to walk | Incoordination | Infantile onset | Laryngeal dystonia | Limited elbow extension | Limited knee extension | Lower limb muscle weakness | Mania | Memory impairment | Muscle spasm | Muscle weakness | Myoclonus | Optic atrophy | Pallor | Poor fine motor coordination | Poor head control | Postural instability | Precocious puberty | Progressive macrocephaly | Progressive spasticity | Psychomotor deterioration | Psychosis | Quadriceps muscle atrophy | Seizure | Short attention span | Skeletal muscle atrophy | Speech articulation difficulties | Tremor | Typical absence seizure | Ventriculomegaly | Visual impairment" ], "symptoms_ja_list": [ "Dementia | GM2-ganglioside 蓄積 | MRIの大脳白質低輝度 | うつ | ジストニア | マニア | ミオクローヌス | 下肢筋虚弱 | 不器用 | 不安 | 乳児期の胃瘻管栄養 | 全般性脳萎縮 | 全身性筋緊張低下 | 典型的欠伸発作 | 協調運動障害 | 反射亢進 | 喉頭ジストニア | 嚥下障害 | 大腿四頭筋萎縮 | 姿勢不安定 | 小脳萎縮 | 常染色体潜性遺伝 | 微細運動協調不全 | 思春期早発 | 意識または覚醒障害を伴う焦点性発作 | 振戦 | 構音障害 | 機能的筋異常 | 歩行不能 | 歩行障害 | 流涎 | 測定障害 | 無関心", "感情鈍磨 | 異常な視床MRI シグナル強度 | 発作 | 発語欠損 | 発語調音困難 | 発達退行 | 盲 | 眼運動の異常 | 短い注意期間 | 神経膠症 | 筋けいれん | 筋緊張亢進 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 精神病 | 精神運動発達悪化 | 糖脂質代謝の異常 | 線維束性収縮 | 肘伸展制限 | 肝脾腫 | 股関節屈曲筋虚弱 | 脳室拡大 | 膝伸展制限 | 蒼白 | 血清 beta-hexosaminidase の増加 | 行動異常 | 視力障害 | 視神経萎縮 | 記憶障害 | 誇張された驚愕反応 | 誤嚥 | 誤嚥性肺炎 | 足クローヌス | 進行性大頭 | 進行性痙性 | 遠位上肢筋虚弱 | 遠位筋虚弱 | 階段の登り困難 | 難聴 | 頸定不全 | 頻回の転倒 | 高度/補酵素活性異常 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:2201091", "label_en": "Neonatal-onset ornitine transcarbamylase deficiency", "label_ja": "新生児期発症型オルニチントランスカルバミラーゼ欠損症", "yomigana": "しんせいじきはっしょうがたおるにちんとらんすかるばみらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201091", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200839", "label_en": "ATR-X syndrome", "label_ja": "ATR-X症候群", "yomigana": "えーてぃーあーるえっくすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200839", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100223", "symptoms_en_list": [ "Abnormal fontanelle morphology | Abnormal heart morphology | Abnormal hemoglobin | Abnormality of movement | Abnormality of the dentition | Abnormality of the face | Abnormality of the kidney | Abnormality of the male genitalia | Absent frontal sinuses | Aganglionic megacolon | Agenesis of corpus callosum | Ambiguous genitalia | Anemia | Anteverted nares | Aphasia | Atypical behavior | Autism | Bilateral tonic-clonic seizure | Blindness | Brachydactyly | Cerebral atrophy | Cerebral cortical atrophy | Childhood onset | Clinodactyly of the 5th finger | Constipation | Coxa valga | Cryptorchidism | Death in infancy | Depressed nasal bridge | Depressed nasal ridge | Depression | Diastema | Drooling | Epicanthus | Everted lower lip vermilion | Feeding difficulties in infancy | Flat face | Flexion contracture | Floppy infant | Gastroesophageal reflux | Global developmental delay | Growth delay | HbH hemoglobin | Hemivertebrae | Hydronephrosis | Hypertelorism | Hypochromic microcytic anemia | Hypoplasia of penis | Hypospadias | Hypotonia | Infectious encephalitis | Intellectual disability | Joint stiffness | Kyphoscoliosis | Kyphosis | Low-set ears | Macroglossia | Malar flattening | Male pseudohermaphroditism | Mandibular prognathia | Microcephaly | Micropenis | Microtia | Midface retrusion | Motor delay | Motor stereotypy | Myopia | Nausea and vomiting | Optic atrophy | Osteoporosis | Perimembranous ventricular septal defect | Poor suck | Posteriorly rotated ears | Postnatal growth retardation | Profound global developmental delay | Protruding tongue | Radial deviation of finger | Recurrent urinary tract infections | Reduced alpha/beta synthesis ratio | Renal agenesis | Scoliosis | Seizure | Self-injurious behavior | Sensorineural hearing impairment | Shawl scrotum | Short nose | Short stature | Sleep disturbance | Spastic paraplegia | Spasticity | Talipes equinovarus | Tapered finger | Telecanthus | Tented upper lip vermilion | Thick lower lip vermilion | Thick vermilion border | U-Shaped upper lip vermilion | Umbilical hernia | Ventricular septal defect | Visual impairment | Volvulus | Weak cry | Widely-spaced maxillary central incisors | X-linked dominant inheritance" ], "symptoms_ja_list": [ "U字型上口唇唇紅部 | X連鎖顕性遺伝 | α/β合成比の減少 | うつ | テント状上口唇唇紅部 | ヘモグロビン H | ヘモグロビン異常 | 上向きの鼻孔 | 上顎門歯間隔離 | 下口唇唇紅部外反 | 下顎突出 | 両眼隔離 | 乳児筋性筋緊張低下 | 低色素性小球性貧血 | 低身長 | 便秘 | 停留精巣 | 側弯 | 先細りの指 | 全般性発達遅滞 | 全身性間代性強直性発作 | 内反尖足 | 内眼角外方偏位 | 内眼角贅皮 | 分厚い下口唇唇紅部 | 分厚い唇紅部縁 | 前頭洞欠損 | 半脊椎 | 反復性尿路感染症 | 吐気と 嘔吐 | 吸啜不全 | 外反股 | 大脳皮質萎縮 | 大脳萎縮 | 失語症 | 小耳 | 小陰茎 | 小頭 | 尿道下裂 | 屈曲拘縮 | 巨舌 | 常同行動 | 平坦な頬 | 平坦な顔 | 弱い泣き声 | 後側弯 | 後弯 | 心室中隔欠損 | 心形態の異常 | 性別不明の外性器 | 感音難聴 | 成長遅滞 | 指の橈側偏位 | 最重度の全般性発達遅滞 | 歯の正中離解 | 歯の異常 | 水腎症 | 泉門異常 | 流涎 | 無神経節性巨大結腸 | 生後の成長遅滞 | 男性仮性半陰陽 | 男性器異常 | 痙性 | 痙性対麻痺 | 発作 | 盲 | 睡眠障害 | 知的障害 | 短い鼻 | 短指症候群 | 第5指弯指 | 筋緊張低下 | 耳介低位 | 耳介後方回転 | 胃食道逆流 | 脳梁無発生 of | 脳炎 | 腎無発生 | 腎異常 | 腸捻転 | 膜様部周囲心室中隔欠損 | 臍ヘルニア | 自傷行動 | 自閉症 | 舌挺出 | 落ちくぼんだ鼻梁 | 行動異常 | 襟巻陰嚢 | 視力障害 | 視神経萎縮 | 貧血 | 近視 | 運動の異常 | 運動発達遅滞 | 関節拘縮 | 陰茎低形成 | 顔の異常 | 顔面中部後退 | 食餌摂取障害 in infancy | 骨粗鬆症" ] }, { "id": "NANDO:2201028", "label_en": "Gigantic venous malformation", "label_ja": "巨大静脈奇形", "yomigana": "きょだいじょうみゃくきけい", "url": "http://nanbyodata.jp/ontology/NANDO_2201028", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201246", "label_en": "Childhood cerebral adrenoleukodystrophy", "label_ja": "小児大脳型副腎白質ジストロフィー", "yomigana": "しょうにだいのうがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201246", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [ "Abnormal brainstem white matter morphology | Abnormal circulating fatty acid concentration | Abnormal periventricular white matter morphology | Abnormal speech pattern | Abnormal spinal cord morphology | Ankle clonus | Apraxia | Astereognosis | Ataxia | Atypical behavior | Blindness | CNS demyelination | Confusion | Decreased circulating cortisol level | Diffuse demyelination of the cerebral white matter | Dysarthria | Dysmetria | Dysphagia | Facial myokymia | Functional motor deficit | Gait disturbance | Generalized hyperreflexia | Global brain atrophy | Hamstring contractures | Hearing impairment | Hemiparesis | Hyperactivity | Impaired visuospatial constructive cognition | Inability to walk | Lower limb spasticity | Male hypogonadism | Memory impairment | Mental deterioration | Myelopathy | Oculomotor apraxia | Peripheral axonal neuropathy | Peripheral neuropathy | Primary adrenal insufficiency | Reduced visual acuity | Seizure | Sensorimotor neuropathy | Short attention span | Spastic tetraparesis | Specific learning disability | Very long chain fatty acid accumulation" ], "symptoms_ja_list": [ "ハムストリング拘縮 | ミエロパチー | 下肢痙性 | 中心視力減少 | 中枢神経脱髄 | 全般性脳萎縮 | 全身性反射亢進 | 原発性副腎不全 | 嚥下障害 | 多動 | 大脳白質のびまん性脱髄 | 失行症 | 循環性コルチゾール値減少 | 感覚運動ニューロパチー | 末梢神経ニューロパチー | 末梢神経軸索ニューロパチー | 極長鎖脂肪酸蓄積 | 構音障害 | 機能的筋異常 | 歩行不能 | 歩行障害 | 測定障害 | 片側不全麻痺 | 特異的学習障害 | 男性性腺機能低下症 | 痙性四肢不全麻痺 | 発作 | 盲 | 眼球運動失行症 | 知能悪化 | 短い注意期間 | 神経学的発語障害 | 立体感覚失認症 | 脂肪酸代謝の異常 | 脊髄の異常 | 脳室周囲白質の異常 | 脳幹白質の異常 | 行動異常 | 視空間建設的認知の障害 | 記憶障害 | 足クローヌス | 運動失調 | 錯乱 | 難聴 | 顔面筋波動症 (ミオキミア)" ] }, { "id": "NANDO:2200132", "label_en": "Nail-patella syndrome", "label_ja": "ネイル・パテラ症候群", "yomigana": "ねいる・ぱてらしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200132", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [ "Abnormal digit morphology | Abnormal femur morphology | Abnormal gastrointestinal tract morphology | Abnormal iris pigmentation | Abnormal nail morphology | Abnormal patella morphology | Abnormal tibia morphology | Abnormality of the elbow | Abnormality of the eye | Abnormality of the kidney | Abnormality of the knee | Abnormality of the vasculature | Absence of pectoralis minor muscle | Absent distal interphalangeal creases | Achilles tendon contracture | Anonychia | Antecubital pterygium | Arthritis | Autosomal dominant inheritance | Back pain | Biceps aplasia | Cataract | Cleft palate | Cleft upper lip | Clinodactyly of the 5th finger | Concave nail | Constipation | Contracture of the distal interphalangeal joint of the fingers | Coronary artery dissection | Cubitus valgus | Decreased muscle mass | Dislocated radial head | Disproportionate prominence of the femoral medial condyle | Elbow flexion contracture | Elongated radius | Enamel hypoplasia | Equinovarus deformity | Fingernail dysplasia | Flexion contracture | Glaucoma | Glenoid fossa hypoplasia | Glomerulonephritis | Hematuria | High anterior hairline | High forehead | Hypoplasia of first ribs | Hypoplastic radial head | Iliac horns | Impaired pain sensation | Impaired temperature sensation | Internal carotid artery hypoplasia | Keratoconus | Knee flexion contracture | Lester's sign | Limited elbow extension | Limited pronation/supination of forearm | Lumbar hyperlordosis | Microcornea | Microphakia | Nephritis | Nephrotic syndrome | Ocular hypertension | Open angle glaucoma | Osteochondritis dissecans | Osteoporosis | Patellar aplasia | Patellar dislocation | Patellar hypoplasia | Pectus excavatum | Pes planus | Primary congenital glaucoma | Proteinuria | Proximal finger joint hyperextensibility | Ptosis | Quadriceps aplasia | Reduced bone mineral density | Renal insufficiency | Ridged nail | Scoliosis | Seizure | Sensorineural hearing impairment | Short stature | Spina bifida | Spondylolisthesis | Spondylolysis | Stage 5 chronic kidney disease | Talipes calcaneovalgus | Talipes calcaneovarus | Talipes equinovalgus | Talipes equinovarus | Thickened glomerular basement membrane | Thickening of the lateral border of the scapula | Toenail dysplasia | Triceps aplasia" ], "symptoms_ja_list": [ "Lester サイン | アキレス腱拘縮 | ステージ5慢性腎疾患 | ネフローゼ症候群 | 上口唇裂 | 上腕三頭筋無形成 | 上腕二頭筋無形成 | 不均衡な大腿骨内側顆隆起 | 二分脊椎 | 低身長 | 便秘 | 側弯 | 内反尖足 | 内反尖足変形 | 内反踵足 | 内頚動脈低形成 | 円錐角膜 | 凹爪 | 前弯回内/回外制限 | 原発性先天性緑内障 | 原発性開放隅角緑内障 | 口蓋裂 | 外反尖足 | 外反肘 | 外反踵骨 | 大腿四頭筋無形成 | 大腿骨の異常 | 小水晶体 | 小胸筋の異常 | 小角膜 | 屈曲拘縮 | 常染色体顕性遺伝 | 感音難聴 | 扁平足 | 指の遠位指間(DIP)関節拘縮 | 指爪異形成 | 指趾の異常 | 橈骨頭低形成 | 橈骨頭脱臼 | 歯エナメル質低形成 | 温度覚障害 | 漏斗胸 | 無爪症 | 爪の異常 | 痛覚障害 | 発作 | 白内障 | 眼の異常 | 眼内圧の増加 | 眼瞼下垂 | 第1肋骨低形成 | 第5指弯指 | 筋量減少 | 糸球体基底膜肥厚 | 糸球体腎炎 | 緑内障 | 肘伸展制限 | 肘前翼状片 | 肘屈曲拘縮 | 肘異常 | 肩甲骨外側肥厚 | 肩甲骨関節窩低形成 | 胃腸管の形態異常 | 背部痛 | 脊椎すべり症 | 脊椎分離症 | 脛骨の異常 | 腎不全 | 腎炎 | 腎異常 | 腰椎前弯 hyperlordosis | 腸骨角 | 膝の異常 | 膝屈曲拘縮 | 膝蓋骨の異常 | 膝蓋骨低形成 | 膝蓋骨無形成無形成 | 膝蓋骨脱臼 | 自然冠動脈解離 | 虹彩色素異常 | 蛋白尿 | 血尿 | 血管の異常 | 趾爪異形成 | 近位指関節過伸展 | 遠位指間屈曲線欠損 | 長い橈骨 | 関節炎 | 隆起した爪 | 離断性骨軟骨症 | 骨ミネラル濃度減少 | 骨粗鬆症 | 高い前部毛髪線 | 高い額" ] }, { "id": "NANDO:2201046", "label_en": "Idiopathic pulmonary arterial hypertension", "label_ja": "特発性肺動脈性肺高血圧症", "yomigana": "とくはつせいはいどうみゃくせいはいこうけつあつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201046", "notificationNumber": "83", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100103", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200665", "label_en": "ATR-X syndrome", "label_ja": "ATR-X症候群", "yomigana": "えーてぃーあーるえっくすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200665", "notificationNumber": "180", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal fontanelle morphology | Abnormal heart morphology | Abnormal hemoglobin | Abnormality of movement | Abnormality of the dentition | Abnormality of the face | Abnormality of the kidney | Abnormality of the male genitalia | Absent frontal sinuses | Aganglionic megacolon | Agenesis of corpus callosum | Ambiguous genitalia | Anemia | Anteverted nares | Aphasia | Atypical behavior | Autism | Bilateral tonic-clonic seizure | Blindness | Brachydactyly | Cerebral atrophy | Cerebral cortical atrophy | Childhood onset | Clinodactyly of the 5th finger | Constipation | Coxa valga | Cryptorchidism | Death in infancy | Depressed nasal bridge | Depressed nasal ridge | Depression | Diastema | Drooling | Epicanthus | Everted lower lip vermilion | Feeding difficulties in infancy | Flat face | Flexion contracture | Floppy infant | Gastroesophageal reflux | Global developmental delay | Growth delay | HbH hemoglobin | Hemivertebrae | Hydronephrosis | Hypertelorism | Hypochromic microcytic anemia | Hypoplasia of penis | Hypospadias | Hypotonia | Infectious encephalitis | Intellectual disability | Joint stiffness | Kyphoscoliosis | Kyphosis | Low-set ears | Macroglossia | Malar flattening | Male pseudohermaphroditism | Mandibular prognathia | Microcephaly | Micropenis | Microtia | Midface retrusion | Motor delay | Motor stereotypy | Myopia | Nausea and vomiting | Optic atrophy | Osteoporosis | Perimembranous ventricular septal defect | Poor suck | Posteriorly rotated ears | Postnatal growth retardation | Profound global developmental delay | Protruding tongue | Radial deviation of finger | Recurrent urinary tract infections | Reduced alpha/beta synthesis ratio | Renal agenesis | Scoliosis | Seizure | Self-injurious behavior | Sensorineural hearing impairment | Shawl scrotum | Short nose | Short stature | Sleep disturbance | Spastic paraplegia | Spasticity | Talipes equinovarus | Tapered finger | Telecanthus | Tented upper lip vermilion | Thick lower lip vermilion | Thick vermilion border | U-Shaped upper lip vermilion | Umbilical hernia | Ventricular septal defect | Visual impairment | Volvulus | Weak cry | Widely-spaced maxillary central incisors | X-linked dominant inheritance" ], "symptoms_ja_list": [ "U字型上口唇唇紅部 | X連鎖顕性遺伝 | α/β合成比の減少 | うつ | テント状上口唇唇紅部 | ヘモグロビン H | ヘモグロビン異常 | 上向きの鼻孔 | 上顎門歯間隔離 | 下口唇唇紅部外反 | 下顎突出 | 両眼隔離 | 乳児筋性筋緊張低下 | 低色素性小球性貧血 | 低身長 | 便秘 | 停留精巣 | 側弯 | 先細りの指 | 全般性発達遅滞 | 全身性間代性強直性発作 | 内反尖足 | 内眼角外方偏位 | 内眼角贅皮 | 分厚い下口唇唇紅部 | 分厚い唇紅部縁 | 前頭洞欠損 | 半脊椎 | 反復性尿路感染症 | 吐気と 嘔吐 | 吸啜不全 | 外反股 | 大脳皮質萎縮 | 大脳萎縮 | 失語症 | 小耳 | 小陰茎 | 小頭 | 尿道下裂 | 屈曲拘縮 | 巨舌 | 常同行動 | 平坦な頬 | 平坦な顔 | 弱い泣き声 | 後側弯 | 後弯 | 心室中隔欠損 | 心形態の異常 | 性別不明の外性器 | 感音難聴 | 成長遅滞 | 指の橈側偏位 | 最重度の全般性発達遅滞 | 歯の正中離解 | 歯の異常 | 水腎症 | 泉門異常 | 流涎 | 無神経節性巨大結腸 | 生後の成長遅滞 | 男性仮性半陰陽 | 男性器異常 | 痙性 | 痙性対麻痺 | 発作 | 盲 | 睡眠障害 | 知的障害 | 短い鼻 | 短指症候群 | 第5指弯指 | 筋緊張低下 | 耳介低位 | 耳介後方回転 | 胃食道逆流 | 脳梁無発生 of | 脳炎 | 腎無発生 | 腎異常 | 腸捻転 | 膜様部周囲心室中隔欠損 | 臍ヘルニア | 自傷行動 | 自閉症 | 舌挺出 | 落ちくぼんだ鼻梁 | 行動異常 | 襟巻陰嚢 | 視力障害 | 視神経萎縮 | 貧血 | 近視 | 運動の異常 | 運動発達遅滞 | 関節拘縮 | 陰茎低形成 | 顔の異常 | 顔面中部後退 | 食餌摂取障害 in infancy | 骨粗鬆症" ] }, { "id": "NANDO:1201170", "label_en": "Contiguous ABCD1/DXS1357E deletion syndrome", "label_ja": "隣接ABCD1/DXS1357E欠失症候群", "yomigana": "りんせつえーびーしーでぃー1/でぃーえっくすえす1357いーけっしつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201170", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Adrenal hypoplasia | Cataract | Cerebellar atrophy | Cholestasis | Dystonia | Elevated circulating hepatic transaminase concentration | Global developmental delay | Intrauterine growth retardation | Micrognathia | Seizure | Sensorineural hearing impairment | Short nose | Strabismus | Ventriculomegaly" ], "symptoms_ja_list": [ "ジストニア | 全般性発達遅滞 | 副腎低形成 | 大脳白質の異常 | 子宮内成長遅滞 | 小脳萎縮 | 小顎 | 感音難聴 | 斜視 | 発作 | 白内障 | 短い鼻 | 肝トランスアミナーゼ上昇 | 胆汁うっ滞 | 脳室拡大" ] }, { "id": "NANDO:2201372", "label_en": "Stage III huge arteriovenous malformation", "label_ja": "巨大動静脈奇形（Stage III）", "yomigana": "きょだいどうじょうみゃくきけい（すてーじ3）", "url": "http://nanbyodata.jp/ontology/NANDO_2201372", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200917", "label_en": "Peutz-Jeghers syndrome", "label_ja": "ポイツ・ジェガース症候群", "yomigana": "ぽいつ・じぇがーすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200917", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100257", "symptoms_en_list": [ "Abdominal pain | Abnormal pigmentation of the oral mucosa | Abnormality of the gallbladder | Abnormality of the gastrointestinal tract | Abnormality of the nose | Abnormality of the respiratory system | Abnormality of the ureter | Anemia | Autosomal dominant inheritance | Biliary tract abnormality | Biliary tract neoplasm | Breast carcinoma | Childhood onset | Clubbing | Clubbing of fingers | Enlarged polycystic ovaries | Esophageal neoplasm | Gastrointestinal carcinoma | Gastrointestinal hemorrhage | Gastrointestinal infarctions | Gynecomastia | Hamartomatous polyposis | Hypermelanotic macule | Intestinal bleeding | Intestinal obstruction | Intussusception | Iron deficiency anemia | Macule | Melanonychia | Multiple gastric polyps | Multiple lentigines | Multiple renal cysts | Nasal polyposis | Neoplasm | Neoplasm of the colon | Neoplasm of the lung | Neoplasm of the nose | Neoplasm of the pancreas | Neoplasm of the rectum | Neoplasm of the small intestine | Ovarian cyst | Pancreatic adenocarcinoma | Precocious puberty with Sertoli cell tumor | Rectal prolapse | Renal cell carcinoma | Stomach cancer | Uterine neoplasm | Vomiting" ], "symptoms_ja_list": [ "Sertoli 細胞腫瘍を伴う思春期早発 | ばち指 | ばち状化 | メラニン増加性斑 | 乳房癌 | 卵巣嚢胞 | 呼吸器の異常 | 嘔吐 | 多嚢胞性卵巣拡大 | 多発性胃ポリープ | 多発性腎嚢胞 | 多発性黒子 | 女性型乳房 | 子宮新生物 | 小腸新生物 | 尿管異常 | 常染色体顕性遺伝 | 斑 | 新生物 | 異常な口腔粘膜色素沈着 | 直腸新生物 | 直腸逸脱 | 結腸新生物 | 肺新生物 | 胃癌 | 胃腸出血 | 胃腸梗塞 | 胃腸癌 | 胃腸管の異常 | 胆嚢の異常 | 胆管新生物 | 胆管異常 | 腎細胞癌 | 腸出血 | 腸重積 | 腸閉塞 | 腹痛 | 膵新生物 | 膵腺癌 | 貧血 | 過誤腫ポリープ | 鉄欠乏症貧血 | 食道新生物 | 黒爪症 | 鼻の異常 | 鼻ポリープ症 | 鼻新生物" ] }, { "id": "NANDO:1200046", "label_en": "Spinocerebellar ataxia type 2", "label_ja": "脊髄小脳失調症2型", "yomigana": "せきずいしょうのうしっちょうしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200046", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cortical gyration | Abnormal spinocerebellar tract morphology | Action tremor | Ataxia | Autosomal dominant inheritance | Babinski sign | Bradykinesia | Cerebellar Purkinje layer atrophy | Cerebellar atrophy | Cerebral cortical atrophy | Cerebral white matter atrophy | Chorea | Dementia | Dilated fourth ventricle | Distal amyotrophy | Dysarthria | Dysdiadochokinesis | Dysmetria | Dysmetric saccades | Dysphagia | Dystonia | Fasciculations | Gait ataxia | Gaze-evoked nystagmus | Generalized hypotonia | Genetic anticipation | Hyperactive deep tendon reflexes | Hyporeflexia | Hypotonia | Impaired horizontal smooth pursuit | Impaired vibratory sensation | Late onset | Limb ataxia | Muscle spasm | Myoclonus | Nystagmus | Oculomotor apraxia | Olivopontocerebellar atrophy | Olivopontocerebellar hypoplasia | Ophthalmoparesis | Ophthalmoplegia | Parkinsonism | Postural instability | Postural tremor | Progressive cerebellar ataxia | Rigidity | Rod-cone dystrophy | Slow saccadic eye movements | Spasticity | Spinal cord dorsal column hypomyelination | Spinocerebellar tract degeneration | Supranuclear ophthalmoplegia | Unsteady gait | Urinary bladder sphincter dysfunction | Urinary incontinence | Young adult onset" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | オリーブ核橋小脳低形成 | オリーブ核橋小脳萎縮 | ジストニア | パーキンソン症候群 | ミオクローヌス | 不安定歩行 | 作動振戦 | 全身性筋緊張低下 | 反射低下 | 嚥下障害 | 四肢失調 | 大脳白質萎縮 | 大脳皮質萎縮 | 姿勢不安定 | 姿勢性振戦 | 小脳 Purkinje 層萎縮 | 小脳萎縮 | 常染色体顕性遺伝 | 拮抗運動反復不全 | 振動覚障害 | 核上性眼筋麻痺 | 構音障害 | 歩行失調 | 水平性の滑らかな追視の障害 | 注視誘発性眼振 | 深部腱反射亢進 | 測定障害 | 測定障害性断続性眼球運動 | 異常な皮質脳回形成 | 痙性 | 眼振 | 眼球運動失行症 | 眼筋不全麻痺 | 眼筋麻痺 | 硬直 | 第4脳室拡大 | 筋けいれん | 筋緊張低下 | 線維束性収縮 | 緩徐なサッカード性眼球運動 | 脊髄小脳路の異常 | 脊髄小脳路変性 | 脊髄後柱ミエリン喪失 | 膀胱括約筋機能障害 | 舞踏病 | 色素性網膜炎 | 表現促進現象 | 進行性小脳失調 | 運動失調 | 運動緩徐 | 遠位筋萎縮 | 遺尿" ] }, { "id": "NANDO:1200861", "label_en": "Familial partial lipodystrophy", "label_ja": "家族性部分性脂肪萎縮症", "yomigana": "かぞくせいぶぶんせいしぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200861", "notificationNumber": "265", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201197", "label_en": "GM1 gangliosidosis, juvenile form", "label_ja": "若年型GM1-ガングリオシドーシス", "yomigana": "じゃくねんがたじーえむ1がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201197", "notificationNumber": "118", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Ataxia | Autosomal recessive inheritance | Beaking of vertebral bodies | Cerebral atrophy | Childhood onset | Coarse facial features | Coxa valga | Decreased beta-galactosidase activity | Developmental stagnation | Dysostosis multiplex | Dysphagia | Failure to thrive | Flat face | Gait disturbance | Generalized hypotonia | Generalized myoclonic seizure | Gingival overgrowth | Hepatomegaly | Hypoplastic vertebral bodies | Joint stiffness | Limb undergrowth | Narrow mouth | Optic atrophy | Patent ductus arteriosus | Platyspondyly | Premature birth | Progressive psychomotor deterioration | Protruding tongue | Scoliosis | Sea-blue histiocytosis | Spastic tetraplegia | Splenomegaly | Thin bony cortex | Thoracolumbar kyphosis | Ventriculomegaly" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | くちばし状椎体骨 | 側弯 | 全身性ミオクローヌス発作 | 全身性筋緊張低下 | 動脈管開存症 | 嚥下障害 | 四肢成長不全 | 外反股 | 多発性異骨症 | 大脳萎縮 | 常染色体潜性遺伝 | 平坦な顔 | 成長障害 (成長不全) | 扁平脊椎 | 早産 | 椎体骨低形成 | 歩行障害 | 歯肉過成長 | 海青組織球症 | 狭い口 | 痙性四肢麻痺 | 発達停滞 | 粗な顔貌 | 肝腫 | 胸腰椎後弯 | 脳室拡大 | 脾腫 | 舌挺出 | 薄い骨皮質 | 視神経萎縮 | 進行性精神運動発達悪化 | 運動失調 | 関節拘縮" ] }, { "id": "NANDO:1200696", "label_en": "Truncus arteriosus communis type III", "label_ja": "総動脈幹遺残症III型", "yomigana": "そうどうみゃくかんいざんしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200696", "notificationNumber": "207", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200601", "label_en": "Primary hyperchylomicronemia", "label_ja": "原発性高カイロミクロン血症", "yomigana": "げんぱつせいこうかいろみくろんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200601", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100171", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200838", "label_en": "Vanishing white matter disease", "label_ja": "白質消失症", "yomigana": "はくしつしょうしつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200838", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200393", "label_en": "Syndrome of abnormal secretion of prolactin", "label_ja": "プロラクチン分泌低下症", "yomigana": "ぷろらくちんぶんぴつていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200393", "notificationNumber": "78", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200922", "label_en": "Cystic fibrosis", "label_ja": "嚢胞性線維症", "yomigana": "のうほうせいせんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200922", "notificationNumber": "299", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abnormality of the liver | Absent vas deferens | Airway obstruction | Anxiety | Asthma | Autosomal recessive inheritance | Biliary cirrhosis | Bronchiectasis | Childhood onset | Chronic lung disease | Chronic sinusitis | Cirrhosis | Clubbing of fingers | Cor pulmonale | Dehydration | Depression | Diarrhea | Elevated circulating hepatic transaminase concentration | Elevated sweat chloride | Exocrine pancreatic insufficiency | Failure to thrive | Gastroesophageal reflux | Hearing impairment | Hemoptysis | Hepatomegaly | Hepatosplenomegaly | Hypercalciuria | Ileus | Infantile onset | Kidney stone | Malabsorption | Male infertility | Meconium ileus | Nasal polyposis | Osteopenia | Osteoporosis | Pancreatitis | Pneumothorax | Rectal prolapse | Recurrent Aspergillus infection | Recurrent Burkholderia cepacia infection | Recurrent Haemophilus influenzae infection | Recurrent Staphylococcus aureus infection | Recurrent bronchopulmonary infections | Recurrent lower respiratory tract infections | Recurrent pneumonia | Recurrent respiratory infections | Sinusitis | Steatorrhea" ], "symptoms_ja_list": [ "うつ | ばち指 | イレウス | メコニウム・イレウス | 下痢 | 不安 | 副鼻腔炎 | 反復性アスペルギルス感染症 | 反復性インフルエンザ菌感染症 | 反復性セパシア菌感染症 | 反復性下気道感染症 | 反復性呼吸器感染症 | 反復性気管支肺感染症 | 反復性肺炎 | 反復性黄色ブドウ球菌感染症 | 吸収障害 | 喀血 | 喘息 | 外分泌性膵不全 | 常染色体潜性遺伝 | 慢性副鼻腔炎 | 慢性肺疾患 | 成長障害 (成長不全) | 気管支拡張 | 気胸 | 汗中クロール上昇 | 男性不妊 | 直腸逸脱 | 肝の異常 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝脾腫 | 肝腫 | 肺性心 | 胃食道逆流 | 胆汁性肝硬変 | 脂肪便 | 脱水 | 腎結石 | 膵炎 | 輸精管欠損 | 閉塞性肺疾患 | 難聴 | 骨減少症 | 骨粗鬆症 | 高カルシウム尿 | 鼻ポリープ症" ] }, { "id": "NANDO:2201250", "label_en": "Atypical X-linked adult adrenoleukodystrophy", "label_ja": "小脳・脳幹型副腎白質ジストロフィー", "yomigana": "しょうのう・のうかんがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201250", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100258", "label_en": "Cyclic vomiting syndrome", "label_ja": "周期性嘔吐症候群", "yomigana": "しゅうきせいおうとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100258", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201287", "label_en": "Altman type IV sacrococcygeal teratoma", "label_ja": "仙尾部奇形腫（Altman IV型）", "yomigana": "せんびぶきけいしゅ（あるとまん4がた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201287", "notificationNumber": "57", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100216", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200093", "label_en": "Choroid plexus papilloma", "label_ja": "脈絡叢乳頭腫", "yomigana": "みゃくらくそうにゅうとうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200093", "notificationNumber": "67", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Abnormal nervous system morphology | Autosomal dominant inheritance | Choroid plexus papilloma | Cognitive impairment | Headache | Hemiplegia/hemiparesis | Hydrocephalus | Hypertonia | Nausea | Neoplasm | Osteosarcoma | Papilledema | Seizure | Visual impairment | Vomiting" ], "symptoms_ja_list": [ "乳頭浮腫 | 吐気 | 嘔吐 | 常染色体顕性遺伝 | 新生物 | 水頭症 | 片麻痺/片側不全麻痺 | 発作 | 神経系形態の異常 | 筋緊張亢進 | 脈絡膜叢乳頭腫 | 視力障害 | 認知障害 | 頭痛 | 骨肉腫" ] }, { "id": "NANDO:1200598", "label_en": "Rasmussen's encephalitis", "label_ja": "ラスムッセン脳炎", "yomigana": "らすむっせんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200598", "notificationNumber": "151", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal basal ganglia morphology | Abnormal cerebrospinal fluid morphology | Antinuclear antibody positivity | Aphasia | Attention deficit hyperactivity disorder | Atypical behavior | Autoimmunity | Bilateral tonic-clonic seizure with focal onset | Cerebral cortical hemiatrophy | Chronic decreased circulating IgA concentration | Cognitive impairment | Dysarthria | Dyskinesia | EEG with focal epileptiform discharges | EEG with focal sharp slow waves | EEG with focal spikes | Emotional lability | Epilepsia partialis continua | Epileptic spasm | Focal aware seizure | Focal impaired awareness seizure | Focal motor seizure | Focal sensory seizure with somatosensory features | Focal-onset seizure | Functional motor deficit | Generalized tonic seizure | Global brain atrophy | Hemiparesis | Hyperactivity | Inability to walk | Increased CSF protein concentration | Interictal epileptiform activity | Involuntary movements | Irritability | Memory impairment | Reduced brain N-acetyl aspartate level by MRS | Specific learning disability | Subcortical cerebral atrophy | Ventriculomegaly | Visual loss" ], "symptoms_ja_list": [ "MRSによる脳 N-acetyl aspartate 値現象 | てんかん型脳波放電 | てんかん性スパスム | ジスキネジア | 不随意運動 | 両側性けいれん発作 | 全免疫グロブリンA欠乏症 | 全般性脳萎縮 | 全身性間代性発作 | 基底核の異常 | 多動 | 大脳皮質片側i萎縮 | 失語症 | 情動不安定 | 意識または覚醒障害を伴う焦点性発作 | 意識または覚醒障害を伴わない焦点性発作 | 抗核抗体陽性 | 持続性部分てんかん | 構音障害 | 機能的筋異常 | 歩行不能 | 注意力欠陥多動性疾患 | 焦点性てんかん放電を伴う脳波 | 焦点性棘徐波を伴う脳波 | 焦点性棘波を伴う脳波 | 焦点性発作 | 焦点性運動発作 | 片側不全麻痺 | 特異的学習障害 | 皮質下 大脳萎縮 | 脳室拡大 | 自己免疫 | 行動異常 | 被刺激性 | 視力喪失 | 記憶障害 | 認知障害 | 身体感覚性前兆 | 髄液の異常 | 髄液タンパクの増加" ] }, { "id": "NANDO:1200156", "label_en": "Atypical neuronal-ceroid lipofuscinosis", "label_ja": "セロイドリポフスチノーシス（非定型型）", "yomigana": "せろいどりぽふすちのーしす（ひていけいがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200156", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200974", "label_en": "Incontinentia pigmenti", "label_ja": "色素失調症", "yomigana": "しきそしっちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200974", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal chorioretinal morphology | Abnormal dental enamel morphology | Abnormal dental morphology | Abnormal fingernail morphology | Abnormal hair morphology | Abnormal hand morphology | Abnormal nail morphology | Abnormal skin pigmentation | Abnormal toenail morphology | Abnormality of immune system physiology | Absent hand | Alopecia | Asymmetric growth | Atrophic", "patchy alopecia | Attention deficit hyperactivity disorder | Blue sclerae | Breast aplasia | Breast hypoplasia | Broad nail | Camptodactyly of finger | Cataract | Cerebral cortical atrophy | Cerebral ischemia | Coarse hair | Cognitive impairment | Congenital onset | Congestive heart failure | Conical tooth | Corneal opacity | Delayed eruption of teeth | Deviation of finger | Dystrophic toenail | Erythema | Fine hair | Finger syndactyly | Gait disturbance | Global developmental delay | Hearing abnormality | Hemiplegia/hemiparesis | Hemivertebrae | Hyperhidrosis | Hyperkeratosis | Hypodontia | Hypopigmented skin patches | Hypoplasia of the fovea | Hypoplastic fingernail | Hypoplastic nipples | Hypotonia | Increased total eosinophil count | Increased total leukocyte count | Infectious encephalitis | Intellectual disability | Irregular hyperpigmentation | Keratitis | Kyphoscoliosis | Microcephaly | Microphthalmia | Nail dysplasia | Nail dystrophy | Nail pits | Oligodontia | Onychogryphosis | Optic atrophy | Orofacial cleft | Osteolysis | Pallor | Pulmonary arterial hypertension | Retinal detachment | Retinal hemorrhage | Ridged fingernail | Ridged nail | Scarring | Scoliosis | Seizure | Short stature | Skin rash | Skin ulcer | Sparse hair | Spasticity | Spina bifida occulta | Strabismus | Supernumerary nipple | Supernumerary ribs | Telangiectasia of the skin | Umbilical hernia | Uveitis | Verrucae | Visual impairment | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | うっ血性心不全 | ブドウ膜炎 | 不規則な高色素 | 中心窩低形成 | 乏歯症 | 乳房低形成 | 乳房無形成 | 乳頭低形成 | 低色素性皮膚斑 | 低身長 | 側弯 | 免疫系生理の異常 | 全般性発達遅滞 | 円錐型切歯 | 分厚い爪 | 副甲状腺乳頭 | 副肋骨 | 半脊椎 | 口腔裂 | 合指症 | 多汗 | 大脳皮質萎縮 | 大脳虚血 | 好酸球増多症 | 小眼球 | 小頭 | 屈指 | 幅広い爪 | 後側弯 | 手形態異常 | 手欠損 | 指偏位 | 指爪の異常 | 指爪低形成 | 斜視 | 歩行障害 | 歯エナメル質異常 | 歯形態異常 | 歯萠出遅延 | 毛髪の異常 | 注意力欠陥多動性疾患 | 減歯症 | 潜在性二分脊椎 | 爪の異常 | 爪ジストロフィー | 爪小孔 | 爪異形成 | 片麻痺/片側不全麻痺 | 異常な皮膚水泡 | 疎な毛髪 | 疣贅 | 痙性 | 瘢痕 | 発作 | 白内障 | 白血球増多症 | 皮膚毛細血管拡張 | 皮膚潰瘍 | 皮膚発疹 | 皮膚色素の異常 | 知的障害 | 禿頭 | 筋緊張低下 | 粗い毛髪 | 紅斑 | 細い毛髪 | 網膜出血 | 網膜剥離 | 聴覚異常 | 肺高血圧 | 脈絡膜網膜異常 | 脳炎 | 臍ヘルニア | 萎縮性", "斑状禿頭 | 蒼白 | 視力障害 | 視神経萎縮 | 角膜混濁 | 角膜炎 | 認知障害 | 趾爪の異常 | 趾爪ジストロフィー | 過角化症 | 隆起した指爪 | 隆起した爪 | 青色胸膜 sclerae | 非対称性成長 | 骨融解" ] }, { "id": "NANDO:1200660", "label_en": "Coffin-Lowry syndrome", "label_ja": "コフィン・ローリー症候群", "yomigana": "こふぃん・ろーりーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200660", "notificationNumber": "176", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal dental morphology | Abnormal diaphysis morphology | Abnormal mitral valve morphology | Abnormal retinal pigmentation | Abnormal speech pattern | Abnormal tricuspid valve morphology | Abnormal vertebral body morphology | Abnormality of neuronal migration | Acrocyanosis | Advanced eruption of teeth | Anteverted nares | Aplasia/Hypoplasia of the cerebellum | Aplasia/Hypoplasia of the corpus callosum | Atonic seizure | Atypical behavior | Bifid sternum | Broad columella | Broad finger | Broad palm | Cardiomyopathy | Cataract | Cerebral cortical atrophy | Coarse facial features | Coarse hair | Conical incisor | Coxa valga | Craniofacial hyperostosis | Cutis laxa | Cutis marmorata | Decreased body weight | Delayed closure of the anterior fontanelle | Delayed eruption of teeth | Delayed skeletal maturation | Dental malocclusion | Depressed nasal bridge | Downslanted palpebral fissures | Drumstick terminal phalanges | Epicanthus | Everted lower lip vermilion | Exaggerated median tongue furrow | Feeding difficulties in infancy | Frontal bossing | Gait disturbance | Global developmental delay | Hearing impairment | High palate | Highly arched eyebrow | Hyperconvex fingernails | Hyperextensibility of the finger joints | Hypertelorism | Hypertonia | Hypodontia | Hypoplasia of the maxilla | Hypoplastic fingernail | Hypotonia | Infantile onset | Inguinal hernia | Intellectual disability | Joint hypermobility | Kyphosis | Large hands | Lumbar kyphosis | Mandibular prognathia | Metacarpal pseudoepiphysis | Microcephaly | Mitral regurgitation | Muscle weakness | Narrow iliac wing | Narrow palate | Open mouth | Optic atrophy | Pectus carinatum | Pectus excavatum | Pes planus | Postnatal growth retardation | Premature loss of teeth | Progressive spasticity | Prominent forehead | Prominent supraorbital ridges | Protruding ear | Rectal prolapse | Redundant skin | Scoliosis | Seizure | Self-injurious behavior | Sensorineural hearing impairment | Severe global developmental delay | Short chordae tendineae of the mitral valve | Short chordae tendineae of the tricuspid valve | Short distal phalanx of finger | Short metacarpal | Short nose | Short stature | Single transverse palmar crease | Skeletal muscle atrophy | Sleep apnea | Sporadic | Strabismus | Tapered finger | Telecanthus | Thick eyebrow | Thick lower lip vermilion | Thick nasal alae | Thick nasal septum | Thickened calvaria | Uterine prolapse | Ventriculomegaly | Wide mouth | Wide nose | Widely spaced teeth | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | はと胸 | ドラムスティック型末節骨 | ニューロン移動の異常 | 三尖弁の異常 | 三尖弁の短い腱索 | 上向きの鼻孔 | 上顎低形成 | 下口唇唇紅部外反 | 下顎突出 | 不正咬合 | 両眼隔離 | 二分した胸骨 | 低身長 | 体重減少 | 側弯 | 偽骨端 (中手骨) | 僧帽弁の異常 | 僧帽弁の短い腱索 | 僧帽弁逆流 | 先細りの指 | 全般性発達遅滞 | 内眼角外方偏位 | 内眼角贅皮 | 円錐型切歯 | 凸の指爪 | 分厚い下口唇唇紅部 | 分厚い眉毛 | 分厚い頭蓋冠 | 分厚い鼻中隔 | 分厚い鼻翼 | 前頭突出", "額突出 | 外反股 | 大きな手 | 大動脈弁の異常 | 大泉門閉鎖遅延 | 大理石皮膚 | 大脳皮質萎縮 | 子宮脱 | 孤発性 | 小脳無形成/低形成 | 小頭 | 幅広い口 | 幅広い手掌 | 幅広い指 | 幅広い鼻 | 幅広い鼻小柱 | 弛緩性皮膚 | 後弯 | 心筋症 | 感音難聴 | 扁平足 | 手掌横線 | 指爪低形成 | 指関節過伸展 | 斜視 | 早発性歯喪失 | 椎体骨形態異常 | 歩行障害 | 歯形態異常 | 歯萠出促進 | 歯萠出遅延 | 歯間隔離 | 減歯症 | 漏斗胸 | 狭い口蓋 | 狭い腸骨翼 | 生後の成長遅滞 | 発作 | 白内障 | 目立つ眼窩上縁 | 目立つ額 | 直腸逸脱 | 眼瞼裂斜下 | 睡眠時無呼吸 | 知的障害 | 短い中手骨 | 短い指末節骨 | 短い鼻 | 神経学的発語障害 | 筋緊張亢進 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗い毛髪 | 粗な顔貌 | 網膜色素異常 | 耳介聳立 | 肢端チアノーゼ | 脱力発作 | 脳室拡大 | 脳梁無形成/低形成 | 腰椎後弯 | 自傷行動 | 落ちくぼんだ鼻梁 | 行動異常 | 視神経萎縮 | 誇張された中央舌溝 | 進行性痙性 | 過剰な皮膚 | 重度の全般性発達遅滞 | 開口 | 関節過動 | 難聴 | 頭蓋顔面過骨症 | 食餌摂取障害 in infancy | 骨幹形態異常 | 骨格骨化遅延 | 高位の弓形眉毛 | 高口蓋 | 鼠径ヘルニア" ] }, { "id": "NANDO:2100195", "label_en": "Platelet dysfunction", "label_ja": "血小板機能異常症", "yomigana": "けっしょうばんきのういじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100195", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201144", "label_en": "Neonatal-onset medium-chain acyl-CoA dehydrogenase deficiency", "label_ja": "新生児期発症型中鎖アシルCoA脱水素酵素欠損症", "yomigana": "しんせいじきはっしょうがたちゅうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201144", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200603", "label_en": "Familial combined hyperlipidemia", "label_ja": "家族性複合型高脂血症", "yomigana": "かぞくせいふくごうがたこうしけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200603", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100171", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200777", "label_en": "C1q deficiency", "label_ja": "C1q 欠損症", "yomigana": "しー1きゅーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200777", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200424", "label_en": "Lymphoid interstitial pneumonia", "label_ja": "リンパ球性間質性肺炎", "yomigana": "りんぱきゅうせいかんしつせいはいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200424", "notificationNumber": "85", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormality of connective tissue | Aortic valve stenosis | Autoimmunity | Autosomal recessive inheritance | Bronchiectasis | Clubbing | Cor pulmonale | Cough | Dyspnea | Eczematoid dermatitis | Enlarged kidney | Failure to thrive | Fatigue | Fever | Hepatomegaly | Hypoxemia | Immunodeficiency | Keratoconjunctivitis sicca | Lymphocytic interstitial pneumonia | Mediastinal lymphadenopathy | Multiple pulmonary cysts | Pulmonary fibrosis | Respiratory tract infection | Restrictive ventilatory defect | Rheumatoid arthritis | Skin rash | Weight loss" ], "symptoms_ja_list": [ "ばち状化 | リンパ性間質性肺炎 | 乾燥性 | 低酸素血症への感受性の減少 | 体重喪失 | 免疫不全 | 呼吸器感染 | 呼吸困難 | 嚢胞性肺疾患 | 外層 | 大動脈弁狭窄 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 拘束性肺疾患 | 気管支拡張 | 湿疹 | 疲労 | 発熱 | 皮膚発疹 | 結合織の異常 | 縦隔リンパ節腫大 | 肝腫 | 肺性心 | 肺線維症 | 腎拡大 | 自己免疫 | 関節リウマチ" ] }, { "id": "NANDO:2200075", "label_en": "Epipharyngeal carcinoma", "label_ja": "上咽頭癌", "yomigana": "じょういんとうがん", "url": "http://nanbyodata.jp/ontology/NANDO_2200075", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200682", "label_en": "Von Willebrand disease", "label_ja": "フォンウィルブランド病", "yomigana": "ふぉんうぃるぶらんどびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200682", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200400", "label_en": "Other hyperinsulinemic hypoglycemia", "label_ja": "77及び78に掲げるもののほか、高インスリン血性低血糖症", "yomigana": "77および78にかかげるもののほか、こういんすりんけっせいていけっとうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200400", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100143", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200680", "label_en": "Factor XII deficiency", "label_ja": "第XII因子欠乏症", "yomigana": "だい12いんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200680", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Abnormal bleeding | Abnormal thrombosis | Autosomal recessive inheritance | Penetrating foot ulcers | Prolonged partial thromboplastin time | Prolonged whole-blood clotting time | Recurrent spontaneous abortion | Reduced factor XII activity | Retinal arteriolar occlusion | Retinal venous occlusion | Thromboembolism" ], "symptoms_ja_list": [ "全血凝固時間遷延 | 反復性自然流産 | 常染色体潜性遺伝 | 異常な出血 | 異常な血栓症 | 穿孔性足潰瘍 | 第 XII 因子活性の減少 | 網膜小動脈閉塞 | 網膜静脈閉塞 | 血栓塞栓症 | 部分的トロンボプラスチン時間遷延" ] }, { "id": "NANDO:1200193", "label_en": "Iatrogenic Creutzfeldt-Jakob disease", "label_ja": "医原性クロイツフェルト・ヤコブ病", "yomigana": "いげんせいくろいつふぇると・やこぶびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200193", "notificationNumber": "23", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100180", "label_en": "Congenital atransferrinemia", "label_ja": "無トランスフェリン血症", "yomigana": "むとらんすふぇりんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100180", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200327", "label_en": "Cerebral salt wasting syndrome", "label_ja": "中枢性塩喪失症候群", "yomigana": "ちゅうすうせいえんそうしつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200327", "notificationNumber": "67", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100118", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201071", "label_en": "Maturity-onset diabetes of the young type 3", "label_ja": "MODY3", "yomigana": "えむおーでぃーわい3", "url": "http://nanbyodata.jp/ontology/NANDO_2201071", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [ "Autosomal dominant inheritance | Hyperglycemia | Infantile onset | Maturity-onset diabetes of the young | Type II diabetes mellitus" ], "symptoms_ja_list": [ "II 型糖尿病 | 常染色体顕性遺伝 | 若年発症成人型糖尿病 | 高血糖" ] }, { "id": "NANDO:2200335", "label_en": "Hashimoto disease", "label_ja": "橋本病", "yomigana": "はしもとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200335", "notificationNumber": "26", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [ "Autosomal dominant inheritance | Hashimoto thyroiditis" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 橋本甲状腺炎" ] }, { "id": "NANDO:2201507", "label_en": "Focal cortical dysplasia type 3d", "label_ja": "限局性皮質異形成タイプ3d", "yomigana": "げんきょくせいひしついけいせいたいぷ3でぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201507", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201320", "label_en": "Primary progressive multiple sclerosis", "label_ja": "一次性進行型多発性硬化症", "yomigana": "いちじせいしんこうがたたはつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201320", "notificationNumber": "62", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100250", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201310", "label_en": "Apert syndrome (metopic synostosis)", "label_ja": "アペール症候群（前頭縫合）", "yomigana": "あぺーるしょうこうぐん（ぜんとうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201310", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200740", "label_en": "Primary membranoproliferative glomerulonephritis type III", "label_ja": "一次性膜性増殖性糸球体腎炎III型", "yomigana": "いちじせいまくせいぞうしょくせいしきゅうたいじんえん3かた", "url": "http://nanbyodata.jp/ontology/NANDO_1200740", "notificationNumber": "223", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200252", "label_en": "Pulmonary atresia with ventricular septal defect", "label_ja": "心室中隔欠損を伴う肺動脈閉鎖症", "yomigana": "しんしつちゅうかくけっそんをともなうはいどうみゃくへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200252", "notificationNumber": "84", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100074", "symptoms_en_list": [ "Autosomal dominant inheritance | Pulmonary artery atresia | Ventricular septal defect" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 心室中隔欠損 | 肺動脈閉鎖" ] }, { "id": "NANDO:1200718", "label_en": "Goodpasture syndrome", "label_ja": "抗糸球体基底膜腎炎", "yomigana": "こうしきゅうたいきていまくじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200718", "notificationNumber": "221", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Anemia | Arthralgia | Arthritis | Autoimmunity | Chest pain | Cough | Cyanosis | Cylindruria | Erythrocyte cylindruria | Exertional dyspnea | Fatigue | Fever | Glomerulonephritis | Glomerulopathy | Hematuria | Hemoptysis | Increased blood urea nitrogen | Macroscopic hematuria | Myalgia | Pallor | Persistence of primary teeth | Polygenic inheritance | Proteinuria | Pulmonary infiltrates | Purpura | Renal insufficiency | Respiratory insufficiency | Restrictive ventilatory defect | Retinal detachment | Tachypnea | Vasculitis | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "チアノーゼ | 乳歯遺残 | 体重喪失 | 共通 | 円柱尿 | 呼吸不全 | 喀血 | 外層 | 多呼吸 | 多因子遺伝 | 拘束性肺疾患 | 疲労 | 発熱 | 筋痛 | 糸球体症 | 糸球体腎炎 | 紫斑 | 網膜剥離 | 肉眼的血尿 | 肺浸潤 | 腎不全 | 自己免疫 | 蒼白 | 蛋白尿 | 血中尿素窒素(BUN)増加 | 血尿 | 血管炎 | 貧血 | 赤血球円柱尿 | 運動性呼吸困難 | 関節炎 | 関節痛" ] }, { "id": "NANDO:1200390", "label_en": "Thyroid-stimulating hormone deficiency", "label_ja": "甲状腺刺激ホルモン分泌低下症", "yomigana": "こうじょうせんしげきほるもんぶんぴつていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200390", "notificationNumber": "78", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200329", "label_en": "MHC class II deficiency", "label_ja": "MHCクラスII欠損症", "yomigana": "えむえいちしーくらす2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200329", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal facial shape | Abnormality of humoral immunity | Acute otitis media | Autoimmune hemolytic anemia | Autoimmune neutropenia | Autoimmune thrombocytopenia | Autoimmunity | Chronic hepatitis due to cryptosporidium infection | Decreased circulating immunoglobulin concentration | Decreased total T cell count | Decreased total neutrophil count | Diarrhea | Dysarthria | Failure to thrive | Gait ataxia | Pancytopenia | Panhypogammaglobulinemia | Protracted diarrhea | Recurrent Candida infection | Recurrent Staphylococcus aureus infection | Recurrent bacterial infections | Recurrent fungal infections | Recurrent herpes | Recurrent infection of the gastrointestinal tract | Recurrent mucocutaneous candidiasis | Recurrent protozoan infections | Recurrent respiratory infections | Recurrent viral infections | Rhinitis | Sinusitis | Skin rash | obsolete Absent cellular immunity" ], "symptoms_ja_list": [ "T リンパ球減少症 | クリプトスポリジウム感染による慢性肝炎 | ヘルペスウイルスへの感受性 | 下痢 | 低ガンマグロブリン血症 | 副鼻腔炎 | 反復性ウイルス感染症 | 反復性カビ感染症 | 反復性カンジダ感染症 | 反復性原虫感染症 | 反復性呼吸器感染症 | 反復性細菌感染症 | 反復性黄色ブドウ球菌感染症 | 好中球減少症 | 急性中耳炎 | 慢性粘膜皮膚カンジダ症 | 成長障害 (成長不全) | 構音障害 | 歩行失調 | 汎低ガンマグロブリン血症 | 汎血球減少症 | 液性免疫の異常 | 異常な顔の形 | 皮膚発疹 | 細胞免疫の欠損 | 胃腸管の反復感染症 | 自己免疫 | 自己免疫性好中球減少症 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 遷延性下痢 | 鼻炎" ] }, { "id": "NANDO:2200263", "label_en": "Cor triatriatum", "label_ja": "三心房心", "yomigana": "さんしんぼうしん", "url": "http://nanbyodata.jp/ontology/NANDO_2200263", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100083", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200446", "label_en": "IL10 deficiency", "label_ja": "IL10欠損症", "yomigana": "あいえる10けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200446", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200087", "label_en": "Glioblastoma", "label_ja": "膠芽腫", "yomigana": "こうがしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200087", "notificationNumber": "52", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal corpus callosum morphology | Abnormal nervous system physiology | Cerebral edema | Emotional lability | Fatigue | Glioblastoma multiforme | Headache | Language impairment | Memory impairment | Muscle weakness | Paralysis | Seizure | Visual loss" ], "symptoms_ja_list": [ "多形性神経膠芽腫 | 大脳浮腫 | 大脳白質の異常 | 情動不安定 | 疲労 | 発作 | 神経系生理の異常 | 筋虚弱 | 脳梁の異常 | 視力喪失 | 言語障害 | 記憶障害 | 頭痛 | 麻痺" ] }, { "id": "NANDO:1200484", "label_en": "Type 1 fiber predominance myopathy", "label_ja": "全タイプ１線維ミオパチー", "yomigana": "ぜんたいぷ1せんいみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200484", "notificationNumber": "111", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201080", "label_en": "Protein C deficiency", "label_ja": "先天性プロテインC欠乏症 ", "yomigana": "せんてんせいぷろていんしーけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201080", "notificationNumber": "327", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Abnormal skin pigmentation | Aplasia/Hypoplasia of the skin | Gangrene | Pulmonary embolism | Purpura | Thin skin | Venous insufficiency | Venous thrombosis | Warfarin-induced skin necrosis" ], "symptoms_ja_list": [ "ワーファリン誘発性皮膚壊死 | 壊疽 | 大脳血管の異常 | 皮膚無形成/低形成 | 皮膚色素の異常 | 紫斑 | 肺塞栓症 | 薄い皮膚 | 静脈不全 | 静脈血栓症" ] }, { "id": "NANDO:2200879", "label_en": "Lennox-Gastaut syndrome", "label_ja": "レノックス・ガストー症候群", "yomigana": "れのっくす・がすとーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200879", "notificationNumber": "80", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [ "Abnormal brainstem morphology | Aggressive behavior | Apathy | Atonic seizure | Atypical absence seizure | Atypical behavior | Autistic behavior | Bilateral tonic-clonic seizure | Developmental regression | EEG abnormality | EEG with focal sharp slow waves | Encephalopathy | Falls | Focal-onset seizure | Generalized myoclonic seizure | Generalized tonic seizure | Hyperactivity | Intellectual disability | Irritability | Mental deterioration | Myoclonus | Neurodevelopmental delay | Personality disorder | Psychosis | Vertigo" ], "symptoms_ja_list": [ "ミオクローヌス | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 全身性間代性発作 | 多動 | 性格異常 | 攻撃的行動 | 無関心", "感情鈍磨 | 焦点性棘徐波を伴う脳波 | 焦点性発作 | 発達退行 | 眩暈 | 知的障害 | 知能悪化 | 神経発生遅延 | 精神病 | 脱力発作 | 脳幹形態の異常 | 脳波異常 | 脳症 | 自閉性行動 | 行動異常 | 被刺激性 | 転倒 | 非典型的欠伸発作" ] }, { "id": "NANDO:2200397", "label_en": "Glucagonoma", "label_ja": "グルカゴノーマ", "yomigana": "ぐるかごのーま", "url": "http://nanbyodata.jp/ontology/NANDO_2200397", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100142", "symptoms_en_list": [ "Abnormal abdomen morphology | Abnormal blistering of the skin | Abnormality of the thyroid gland | Acanthocytosis | Adrenocortical adenoma | Anorexia | Ascites | Chronic fatigue | Constipation | Depression | Diabetes mellitus | Diarrhea | Elevated circulating growth hormone concentration | Episodic abdominal pain | Extrahepatic cholestasis | Gastrointestinal hemorrhage | Glossitis | Hepatomegaly | Hypercalcemia | Increased circulating cortisol level | Increased circulating gonadotropin level | Increased circulating prolactin concentration | Intermittent jaundice | Intestinal obstruction | Intrahepatic cholestasis | Nausea and vomiting | Neoplasm of the pancreas | Normochromic anemia | Parathyroid adenoma | Pituitary adenoma | Poor appetite | Primary hyperparathyroidism | Pruritus | Skin rash | Steatorrhea | Stomatitis | Subcutaneous lipoma | Thromboembolism | Weight loss" ], "symptoms_ja_list": [ "うつ | ゴナドトロピン過剰症 | プロラクチン過剰症 | 下垂体腺腫 | 下痢 | 体重喪失 | 便秘 | 副甲状腺腺腫 | 副腎皮質腺腫 | 原発性副甲状腺機能亢進症 | 口内炎 | 吐気と 嘔吐 | 循環性コルチゾール 値増加 | 性色素性貧血 | 慢性疲労 | 成長ホルモン過剰症 | 掻痒 | 有棘赤血球増加 | 甲状腺異常 | 異常な皮膚水泡 | 皮下脂肪腫 | 皮膚発疹 | 糖尿病 | 肝内胆汁うっ滞 | 肝外胆汁うっ滞 | 肝腫 | 胃腸出血 | 脂肪便 | 腸閉塞 | 腹水 | 腹痛エピソード | 腹部の異常 | 膵新生物 | 舌炎 | 血栓塞栓症 | 間歇的黄疸 | 食思不振 | 高カルシウム血症" ] }, { "id": "NANDO:2200685", "label_en": "High molecular weight kininogen deficiency", "label_ja": "先天性高分子キニノゲン欠乏症", "yomigana": "せんてんせいこうぶんしきにのげんけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200685", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Autosomal recessive inheritance | Prolonged partial thromboplastin time | Reduced kininogen activity" ], "symptoms_ja_list": [ "キニノーゲン活性の減少 | 常染色体潜性遺伝 | 部分的トロンボプラスチン時間遷延" ] }, { "id": "NANDO:1200559", "label_en": "Moebius syndrome", "label_ja": "メビウス症候群", "yomigana": "めびうすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200559", "notificationNumber": "133", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abducens palsy | Abnormal nail morphology | Abnormal nasopharynx morphology | Abnormal pelvic girdle bone morphology | Abnormal pinna morphology | Abnormal posterior cranial fossa morphology | Abnormality of the dentition | Abnormality of the sense of smell | Abnormality of the voice | Absent hand | Aplasia of the pectoralis major muscle | Aplasia/Hypoplasia involving the metacarpal bones | Aplasia/Hypoplasia of the radius | Aplasia/Hypoplasia of the thumb | Aplasia/Hypoplasia of the tongue | Arthrogryposis multiplex congenita | Autism | Autosomal dominant inheritance | Bifid uvula | Blepharitis | Brachydactyly | Breast aplasia | Camptodactyly | Cleft palate | Clinodactyly of the 5th finger | Clumsiness | Congenital fibrosis of extraocular muscles | Corneal opacity | Cranial nerve paralysis | Death in infancy | Decreased testicular size | Delayed speech and language development | Depressed nasal bridge | Dysarthria | Dysdiadochokinesis | Dysphagia | Epicanthus | Esotropia | Everted lower lip vermilion | Exotropia | Facial diplegia | Facial palsy | Feeding difficulties in infancy | Finger syndactyly | Floppy infant | Gait disturbance | Hand clenching | Hearing impairment | High palate | Hypertelorism | Hypogonadotropic hypogonadism | Hypoplasia of the brainstem | Hypotonia | Incoordination | Lower limb undergrowth | Mask-like facies | Microdontia | Micrognathia | Micropenis | Microphthalmia | Mild intellectual disability | Motor delay | Multiple cafe-au-lait spots | Open mouth | Ophthalmoplegia | Peripheral neuropathy | Pes planus | Ptosis | Radial deviation of finger | Respiratory distress | Short neck | Short phalanx of finger | Skeletal muscle atrophy | Split hand | Sporadic | Strabismus | Syndactyly | Talipes equinovarus | Tooth agenesis | Visual impairment" ], "symptoms_ja_list": [ "下口唇唇紅部外反 | 下肢発育不全 | 不器用 | 両眼隔離 | 中手骨無形成/低形成 | 乳児筋性筋緊張低下 | 乳房無形成 | 二分した口蓋垂 | 仮面様顔貌 | 低ゴナドトロピン性性腺機能低下症 | 先天性外眼筋線維症 | 先天性多発性関節拘縮 | 内反尖足 | 内斜視 | 内眼角贅皮 | 協調運動障害 | 口蓋裂 | 合指症 | 合指趾症 | 呼吸窮迫 | 嗅覚の異常 | 嚥下障害 | 声の異常 | 外斜視 | 多発性カフェオーレ斑 | 大胸筋無形成 | 孤発性 | 小歯 | 小眼球 | 小陰茎 | 小顎 | 屈指 | 常染色体顕性遺伝 | 後頭蓋窩の異常 | 扁平足 | 手欠損 | 拮抗運動反復不全 | 指の橈側偏位 | 握り手 | 斜視 | 末梢神経ニューロパチー | 構音障害 | 橈骨無形成/低形成 | 歩行障害 | 歯の異常 | 歯数の減少 number of teeth | 母指無形成/低形成 | 爪の異常 | 発語および言語発達遅延 | 眼瞼下垂 | 眼瞼炎 | 眼筋麻痺 | 知的障害", "軽度 | 短い指骨 | 短い頸部 | 短指症候群 | 第5指弯指 | 第VI脳神経麻痺 | 筋緊張低下 | 筋萎縮 | 精巣サイズ減少 | 耳介の異常 | 脳幹低形成 | 脳神経麻痺 | 自閉症 | 舌の無形成/低形成 | 落ちくぼんだ鼻梁 | 裂手 | 視力障害 | 角膜混濁 | 運動発達遅滞 | 開口 | 難聴 | 顔面両麻痺 | 顔面麻痺 | 食餌摂取障害 in infancy | 骨盤帯骨の形態異常 | 高口蓋 | 鼻咽頭の異常" ] }, { "id": "NANDO:1200271", "label_en": "Antiphospholipid antibody-related disease", "label_ja": "抗リン脂質抗体関連疾患", "yomigana": "こうりんししつこうたいかんれんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200271", "notificationNumber": "48", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200735", "label_en": "CD27 deficiency", "label_ja": "CD27欠損症", "yomigana": "しーでぃー27けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200735", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201123", "label_en": "Chronic progressive multiple carboxylase deficiency", "label_ja": "慢性進行型複合カルボキシラーゼ欠損症", "yomigana": "まんせいしんこうがたふくごうかるぼきしらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201123", "notificationNumber": "105", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201284", "label_en": "Altman type I sacrococcygeal teratoma", "label_ja": "仙尾部奇形腫（Altman I型）", "yomigana": "せんびぶきけいしゅ（あるとまん1がた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201284", "notificationNumber": "57", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100216", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200804", "label_en": "Ornithine transcarbamylase deficiency", "label_ja": "OTC欠損症", "yomigana": "おーてぃーしーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200804", "notificationNumber": "251", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal pain | Adult onset | Aminoaciduria | Anorexia | Anxiety | Ataxia | Attention deficit hyperactivity disorder | Cerebral edema | Childhood onset | Coma | Conjugated hyperbilirubinemia | Depression | Drowsiness | Elevated circulating hepatic transaminase concentration | Encephalopathy | Episodic ammonia intoxication | Episodic ataxia | Episodic vomiting | Failure to thrive | Global developmental delay | Hepatic failure | Hyperammonemia | Hyperglutaminemia | Hypoargininemia | Hypoglycemia | Hypothermia | Hypotonia | Infantile onset | Intellectual disability | Irritability | Juvenile onset | Lethargy | Low plasma citrulline | Neonatal onset | Oroticaciduria | Poor suck | Prolonged partial thromboplastin time | Prolonged prothrombin time | Protein avoidance | Respiratory alkalosis | Seizure | Specific learning disability | Splenomegaly | Stroke | Vomiting | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うつ | アミノ酸尿 | アンモニア中毒エピソード | オロチン酸尿 | プロトロンビン時間遷延 | 不安 | 低アルギニン血症 | 低体温 | 低血糖 | 全般性発達遅滞 | 卒中 | 吸啜不全 | 嘔吐 | 嘔吐エピソード | 大脳浮腫 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 昏睡 | 注意力欠陥多動性疾患 | 活性減少アルカローシス | 無気力 | 特異的学習障害 | 発作 | 眠気 | 知的障害 | 筋緊張低下 | 肝トランスアミナーゼ上昇 | 肝不全 | 脳症 | 脾腫 | 腹痛 | 蛋白回避 | 血症シトルリン低値 | 被刺激性 | 運動失調 | 運動失調エピソード | 部分的トロンボプラスチン時間遷延 | 食思不振 | 高アンモニア血症 | 高グルタミン血症" ] }, { "id": "NANDO:2100085", "label_en": "Atrial septal defect", "label_ja": "心房中隔欠損症", "yomigana": "しんぼうちゅうかくけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100085", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [ "Atrial fibrillation | Atrial flutter | Atrial septal defect | Cardiomegaly | Complete right bundle branch block | Congestive heart failure | Coronary sinus atrial septal defect | Exertional dyspnea | Fatigue | Palpitations | Primum atrial septal defect | Pulmonary arterial hypertension | Recurrent respiratory infections | Right ventricular dilatation | Secundum atrial septal defect | Sinus venosus atrial septal defect | Stroke" ], "symptoms_ja_list": [ "うっ血性心不全 | 一次孔心房中隔欠損症 | 二次口心房中隔欠損症 | 冠状静脈洞心房中隔欠損 | 動悸 | 卒中 | 反復性呼吸器感染症 | 右室拡張 | 右脚ブロック | 心房中隔欠損 | 心房粗動 | 心房細動 | 心拡大 | 疲労 | 肺高血圧 | 運動性呼吸困難 | 静脈洞心房中隔欠損症" ] }, { "id": "NANDO:1200955", "label_en": "Lafora disease", "label_ja": "ラフォラ病", "yomigana": "らふぉらびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200955", "notificationNumber": "309", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Ataxia | Atonic seizure | Atypical absence seizure | Bilateral tonic-clonic seizure | Bilateral tonic-clonic seizure with focal onset | Brain atrophy | Confusion | Dementia | Depression | Dysarthria | Emotional lability | Focal impaired awareness seizure | Focal sensory seizure with visual features | Focal-onset seizure | Gait disturbance | Generalized myoclonic seizure | Generalized non-motor (absence) seizure | Giant somatosensory evoked potentials | Headache | Hepatic failure | Hypsarrhythmia | Inability to walk | Lafora bodies | Mental deterioration | Myoclonus | Recurrent aspiration pneumonia | Seizure | Severe photosensitivity | Sleep disturbance | Spasticity | Status epilepticus | Visual hallucination" ], "symptoms_ja_list": [ "Dementia | Lafora 小体 | うつ | てんかん重積 | ヒプスアリスミア | ミオクローヌス | 両側性けいれん発作 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 反復性誤嚥性肺炎 | 巨大身体感覚誘発電位 | 情動不安定 | 意識または覚醒障害を伴う焦点性発作 | 構音障害 | 欠神発作 | 歩行不能 | 歩行障害 | 焦点性発作 | 痙性 | 発作 | 睡眠障害 | 知能悪化 | 肝不全 | 脱力発作 | 脳萎縮 | 視覚的前兆 | 視覚的幻覚 | 運動失調 | 重度の光線過敏症 | 錯乱 | 非典型的欠伸発作 | 頭痛" ] }, { "id": "NANDO:1200840", "label_en": "Hepatic glycogen storage disease type Ia", "label_ja": "肝型糖原病Ia型", "yomigana": "かんがたとうげんびょう1えーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200840", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Cognitive impairment | Full cheeks | Hyperlipidemia | Hyperuricemia | Hypoglycemia | Hypotonia | Recurrent infections | Recurrent respiratory infections | Seizure | Short stature | Xanthomatosis" ], "symptoms_ja_list": [ "低血糖 | 低身長 | 反復性呼吸器感染症 | 反復性感染症 | 大きな頬 | 発作 | 筋緊張低下 | 認知障害 | 高尿酸血症 | 高脂血症 | 黄色腫症" ] }, { "id": "NANDO:2200379", "label_en": "Hyperestrogenism", "label_ja": "エストロゲン過剰症", "yomigana": "えすとろげんかじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200379", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100136", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201453", "label_en": "Jervell Lange Nielsen syndrome", "label_ja": "Jervell Lange Nielsen症候群", "yomigana": "じゃーべるらんげにーるせんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201453", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100053", "symptoms_en_list": [ "Arrhythmia | Bilateral sensorineural hearing impairment | Iron deficiency anemia | Loss of consciousness | Profound sensorineural hearing impairment | Prolonged QTc interval | Seizure | Syncope | Torsade de pointes | Ventricular fibrillation" ], "symptoms_ja_list": [ "トルサードドポアンツ (Torsade de pointes) | 不整脈 | 両側性感音難聴 | 失心 | 心室細動 | 意識喪失 | 最重度感音難聴 | 発作 | 遷延性 QTc 間隔 | 鉄欠乏症貧血" ] }, { "id": "NANDO:1200132", "label_en": "Fucosidosis, milder form", "label_ja": "軽症型フコシドーシス", "yomigana": "けいしょうがたふこしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200132", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200788", "label_en": "Factor D deficiency", "label_ja": "Factor D 欠損症", "yomigana": "ふぁくたーでぃーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200788", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Partial functional complement factor D deficiency | Recurrent bacterial infections" ], "symptoms_ja_list": [ "反復性細菌感染症 | 常染色体潜性遺伝 | 部分的機能的補体 factor D欠乏症" ] }, { "id": "NANDO:1200343", "label_en": "X-linked agammaglobulinemia", "label_ja": "X連鎖無ガンマグロブリン血症", "yomigana": "えっくすれんさむがんまぐろぶりんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200343", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal lung morphology | Abnormality of the lymphatic system | Abnormality of the tonsils | Agammaglobulinemia | Alopecia | Anemia | Arthritis | Autoimmunity | Bronchiectasis | Bronchiolitis obliterans | Cellulitis | Childhood onset | Chronic diarrhea | Chronic otitis media | Conjunctivitis | Cor pulmonale | Decreased circulating IgA concentration | Decreased circulating IgE concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased total B cell count | Decreased total T cell count | Decreased total neutrophil count | Delayed speech and language development | Enteroviral dermatomyositis syndrome | Enteroviral hepatitis | Epididymitis | Failure to thrive | Fatigue | Fever | Glossoptosis | Hearing impairment | Hepatitis | Hepatocellular carcinoma | Hypocalcemia | Hypopigmented skin patches | Immunodeficiency | Infantile onset | Infectious encephalitis | Juvenile onset | Lymph node hypoplasia | Malabsorption | Meningitis | Neonatal onset | Neoplasm | Osteomyelitis | Prostatitis | Pyoderma | Recurrent cutaneous abscess formation | Recurrent infections | Recurrent lower respiratory tract infections | Recurrent otitis media | Recurrent pneumonia | Recurrent sinusitis | Recurrent urinary tract infections | Sensorineural hearing impairment | Sepsis | Septic arthritis | Short stature | Sinusitis | Skin rash | Skin ulcer | Thrombocytopenia | Weight loss | X-linked recessive inheritance" ], "symptoms_ja_list": [ "B リンパ球減少症 | IgA欠乏症 | IgE欠乏症 | IgG欠乏症 | IgM欠乏症 | T リンパ球減少症 | X連鎖潜性遺伝 | エンテロウイルス性皮膚筋炎症候群 | エンテロウイルス肝炎 | リンパ節低形成 | リンパ系の異常 | 低カルシウム血症 | 低色素性皮膚斑 | 低身長 | 体重喪失 | 免疫不全 | 前立腺炎 | 副鼻腔炎 | 反復性下気道感染症 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性尿路感染症 | 反復性感染症 | 反復性皮膚膿瘍形成 | 反復性肺炎 | 吸収障害 | 好中球減少症 | 感音難聴 | 慢性下痢 | 慢性中耳炎 | 成長障害 (成長不全) | 扁桃の異常 | 敗血症 | 敗血症性関節炎 | 新生物 | 気管支拡張 | 無ガンマグロブリン血症 | 疲労 | 発熱 | 発語および言語発達遅延 | 皮膚潰瘍 | 皮膚発疹 | 禿頭 | 精巣上体炎 | 結膜炎 | 肝炎 | 肝細胞癌 | 肺の異常 | 肺性心 | 脳炎 | 膿皮症 | 自己免疫 | 舌根沈下 | 蜂巣織炎 | 血小板減少 | 貧血 | 閉塞性細気管支炎 | 関節炎 | 難聴 | 骨髄炎 | 髄膜炎" ] }, { "id": "NANDO:2100146", "label_en": "Primary hypophosphatemic rickets", "label_ja": "原発性低リン血症性くる病", "yomigana": "げんぱつせいていりんけつしょうせいくるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100146", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200981", "label_en": "Mowat-Wilson syndrome", "label_ja": "モワット・ウィルソン症候群", "yomigana": "もわっと・うぃるそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200981", "notificationNumber": "36", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abdominal distention | Abnormal cardiac septum morphology | Abnormal cerebral white matter morphology | Abnormal corpus callosum morphology | Abnormal dental morphology | Abnormal enteric ganglion morphology | Abnormal eye morphology | Abnormal heart morphology | Abnormality of the eye | Abnormality of the genital system | Abnormality of the kidney | Absent speech | Adducted thumb | Aganglionic megacolon | Agenesis of cerebellar vermis | Agenesis of corpus callosum | Anterior plagiocephaly | Anxiety | Aortic valve stenosis | Aplasia/Hypoplasia of the cerebral white matter | Asplenia | Astigmatism | Ataxia | Atrial septal defect | Atypical absence seizure | Autosomal dominant inheritance | Axenfeld anomaly | Bicuspid aortic valve | Bifid scrotum | Bifid uvula | Bowel incontinence | Broad columella | Broad eyebrow | Broad hallux | Broad-based gait | Bruxism | Calcaneovalgus deformity | Camptodactyly | Cataract | Cerebellar vermis hypoplasia | Chordee | Chorioretinal coloboma | Cleft palate | Coarctation of aorta | Conductive hearing impairment | Constipation | Cryptorchidism | Cupped ear | Decreased body weight | Decreased circulating immunoglobulin concentration | Deeply set eye | Delayed eruption of teeth | Delayed fine motor development | Delayed skeletal maturation | Delayed speech and language development | Dental crowding | Depressed nasal tip | Developmental regression | Downslanted palpebral fissures | Drooling | Dysphagia | EEG with generalized slow activity | EEG with spike-wave complexes | Ectopia pupillae | Enlarged cerebellum | Enterocolitis | Esotropia | Everted lower lip vermilion | Expressive aphasia | Flexion contracture | Focal white matter lesions | Focal-onset seizure | Gastrointestinal dysmotility | Generalized hypotonia | Generalized muscle hypertrophy | Genu valgum | Gingival overgrowth | Growth delay | Hallux valgus | Horizontal eyebrow | Hydrocele testis | Hydronephrosis | Hypertelorism | Hypoplasia of the corpus callosum | Hypospadias | Hypotonia | Impaired pain sensation | Inability to walk | Iris coloboma | Large basal ganglia | Large earlobe | Long face | Long toe | Low hanging columella | Mandibular prognathia | Microcephaly | Microcornea | Micropenis | Microphthalmia | Moderate intellectual disability | Morphological central nervous system abnormality | Motor delay | Motor stereotypy | Multicystic kidney dysplasia | Myopia | Neurodevelopmental delay | Nystagmus | Oligomenorrhea | Open mouth | Patent ductus arteriosus | Pectus carinatum | Pectus excavatum | Pelvic kidney | Periventricular heterotopia | Pes planus | Pointed chin | Polymicrogyria | Posteriorly rotated ears | Prominent nasal tip | Ptosis | Pulmonary artery sling | Pulmonary artery stenosis | Pulmonic stenosis | Pyloric stenosis | Recurrent fractures | Recurrent infections | Recurrent otitis media | Reduced social responsiveness | Renal duplication | Retinal coloboma | Scoliosis | Seizure | Sensorineural hearing impairment | Septate vagina | Severe intellectual disability | Short stature | Sleep disturbance | Spasticity | Status epilepticus | Strabismus | Submucous cleft hard palate | Supernumerary nipple | Syndactyly | Tapered finger | Telecanthus | Tetralogy of Fallot | Thick lower lip vermilion | Tooth malposition | Tracheal stenosis | Ulnar deviation of the hand | Uplifted earlobe | Urinary incontinence | Ventricular septal defect | Ventriculomegaly | Vesicoureteral reflux | Vomiting | Wide nasal bridge | Widely spaced teeth" ], "symptoms_ja_list": [ "Axenfeld 奇形 | Fallot 四徴症 | てんかん重積 | はと胸 | コップ状耳 | コロボーマ | 下口唇唇紅部外反 | 下顎突出 | 不安 | 両眼隔離 | 中枢神経の形態異常 | 乱視 | 二分した口蓋垂 | 二分陰嚢 | 二弁性大動脈弁 | 伝音難聴 | 低い垂れ下がった鼻小柱 | 低ガンマグロブリン血症 | 低身長 | 体重減少 | 便秘 | 停留精巣 | 側弯 | 先細りの指 | 全般性徐活動を伴う脳波 | 全身性筋緊張低下 | 全身性筋肥大 | 内斜視 | 内眼角外方偏位 | 内転母指 | 分厚い下口唇唇紅部 | 前方斜頭 | 副甲状腺乳頭 | 動脈管開存症 | 反復性中耳炎 | 反復性感染症 | 反復性骨折 | 口蓋裂 | 合指趾症 | 嘔吐 | 嚥下障害 | 外反母趾 | 外反膝 | 外反踵骨変形 | 多嚢胞腎異形成 | 多小脳回 | 大きな基底核 | 大きな耳朶 | 大動脈弁狭窄 | 大動脈縮窄 | 大脳白質の異常 | 大脳白質無形成/低形成 | 小眼球 | 小脳拡大 | 小脳虫部低形成 | 小脳虫部無発生 | 小腸結腸炎 | 小角膜 | 小陰茎 | 小頭 | 尖った下顎 | 尿道下裂 | 尿道索 | 屈指 | 屈曲拘縮 | 巣状白質病変 | 希発月経 | 常同行動 | 常染色体顕性遺伝 | 幅広い母趾 | 幅広い眉毛 | 幅広い鼻小柱 | 幅広い鼻梁 | 幅広歩行 | 幽門狭窄 | 心中隔 | 心室中隔欠損 | 心形態の異常 | 心房中隔欠損 | 性器異常 | 感音難聴 | 成長遅滞 | 扁平足 | 手の尺側偏位 | 持ち上がった耳朶 | 斜視 | 棘波複合を伴う脳波 | 歩行不能 | 歯ぎしり | 歯不正配列 | 歯形態異常 | 歯混雑 | 歯肉過成長 | 歯萠出遅延 | 歯間隔離 | 気管狭窄 | 水平眉毛 | 水腎症 | 流涎 | 漏斗胸 | 無神経節性巨大結腸 | 無脾症 | 焦点性発作 | 異所性瞳孔 pupillae | 痙性 | 痛覚障害 | 発作 | 発語および言語発達遅延 | 発語欠損 | 発達退行 | 白内障 | 目立つ鼻尖 | 眼の異常 | 眼形態の異常 | 眼振 | 眼瞼下垂 | 眼瞼裂斜下 | 睡眠障害 | 知的障害", "中道動脈瘤 | 知的障害", "重度 | 社会的相互関係障害 | 神経発生遅延 | 筋緊張低下 | 粘膜下硬口蓋裂 | 網膜コロボーマ | 繊細運動発達遅延 | 耳介後方回転 | 肺動脈スリング | 肺動脈狭窄 | 胃腸蠕動運動異常 | 脈絡膜網膜コロボーマ | 脳室周囲異所性灰白質 | 脳室拡大 | 脳梁の異常 | 脳梁低形成 | 脳梁無発生 of | 腎異常 | 腎重複 | 腸神経節の異常 | 腹部膨満 | 膀胱尿管逆流 | 膣中隔 | 落ちくぼんだ眼 | 落ちくぼんだ鼻尖 | 近視 | 運動失調 | 運動性失語 | 運動発達遅滞 | 遺尿 | 遺糞症 | 長い趾 | 長い顔 | 開口 | 陰嚢水腫 | 非典型的欠伸発作 | 骨格骨化遅延 | 骨盤腎" ] }, { "id": "NANDO:1200101", "label_en": "Sanfilippo disease type A", "label_ja": "サンフィリッポ症候群A型", "yomigana": "さんふぃりっぽしょうこうぐんえーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200101", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Asymmetric septal hypertrophy | Autosomal recessive inheritance | Childhood onset | Coarse facial features | Coarse hair | Dense calvaria | Diarrhea | Dysostosis multiplex | Global developmental delay | Growth abnormality | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hirsutism | Hyperactivity | Inguinal hernia | Intellectual disability | Joint stiffness | Ovoid thoracolumbar vertebrae | Recurrent upper respiratory tract infections | Scoliosis | Seizure | Sleep disturbance | Splenomegaly | Synophrys | Thickened ribs | Umbilical hernia" ], "symptoms_ja_list": [ "下痢 | 側弯 | 全般性発達遅滞 | 卵形胸腰椎 | 反復性上気道感染症 | 多動 | 多毛 | 多発性異骨症 | 尿中硫酸ヘパラン排泄 | 常染色体潜性遺伝 | 成長異常 | 濃い頭蓋冠 | 発作 | 睡眠障害 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 肋骨肥厚 | 肝腫 | 脾腫 | 臍ヘルニア | 連続眉毛 | 関節拘縮 | 難聴 | 非対称性中隔肥大 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200966", "label_en": "Nail-patella syndrome/LMX1B-associated nephropathy", "label_ja": "ネイルパテラ症候群（爪膝蓋骨症候群）／LMX1B関連腎症", "yomigana": "ねいるぱてらしょうこうぐん（そうしつがいこつしょうこうぐん）／えるえむえっくす1びーかんれんじんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200966", "notificationNumber": "315", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200852", "label_en": "Lecithin cholesterol acyltransferase deficiency", "label_ja": "レシチンコレステロールアシルトランスフェラーゼ欠損症", "yomigana": "れしちんこれすてろーるあしるとらんすふぇらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200852", "notificationNumber": "259", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Acute kidney injury | Adult onset | Atherosclerosis | Autosomal recessive inheritance | Corneal arcus | Corneal opacity | Decreased circulating HDL-C concentration | Decreased glomerular filtration rate | Foam cells | Hemolytic anemia | Hypertriglyceridemia | Normochromic anemia | Premature coronary artery atherosclerosis | Proteinuria | Renal insufficiency | Stage 5 chronic kidney disease | Visual impairment" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | 動脈硬化症 | 常染色体潜性遺伝 | 急性腎外傷 | 性色素性貧血 | 早発性冠動脈疾患 | 泡沫細胞 | 溶血性貧血 | 糸球体濾過率減少 | 腎不全 | 蛋白尿 | 視力障害 | 角膜混濁 | 角膜環 | 高αリポ蛋白血症 | 高トリグリセリド血症" ] }, { "id": "NANDO:1200426", "label_en": "Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis", "label_ja": "肺静脈閉塞症／肺毛細血管腫症", "yomigana": "はいじょうみゃくへいそくしょう／はいもうさいけっかんしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200426", "notificationNumber": "87", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200831", "label_en": "Werner syndrome", "label_ja": "ウェルナー症候群", "yomigana": "うぇるなーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200831", "notificationNumber": "59", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100221", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Abnormal hair whorl | Abnormal retinal pigmentation | Abnormal testis morphology | Abnormal thorax morphology | Abnormality of the voice | Abnormally high-pitched voice | Acral lentiginous melanoma | Alopecia of scalp | Aplasia/Hypoplasia of the skin | Aplasia/Hypoplasia of the testes | Atherosclerosis | Autosomal recessive inheritance | Bird-like facies | Breast carcinoma | Cataract | Chondrocalcinosis | Congestive heart failure | Convex nasal ridge | Cutaneous melanoma | Decreased fertility | Dermal atrophy | Diabetes mellitus | Gastrointestinal carcinoma | Hyperglycemia | Hyperkeratosis | Hypertension | Hypertriglyceridemia | Hypogonadism | Increased bone mineral density | Insulin resistance | Joint stiffness | Juvenile onset | Lack of skin elasticity | Laryngomalacia | Lipoatrophy | Lipodystrophy | Low back pain | Melanoma | Meningioma | Miscarriage | Myelodysplasia | Myocardial infarction | Nail dystrophy | Narrow face | Neoplasm | Neoplasm of the lung | Neoplasm of the oral cavity | Neoplasm of the small intestine | Osteoporosis | Osteosarcoma | Ovarian neoplasm | Pili torti | Plantar hyperkeratosis | Premature arteriosclerosis | Premature graying of hair | Prematurely aged appearance | Progeroid facial appearance | Pulmonary artery stenosis | Reduced bone mineral density | Renal neoplasm | Retinal degeneration | Rocker bottom foot | Sarcoma | Scleroderma | Secondary amenorrhea | Short stature | Skeletal muscle atrophy | Skin ulcer | Slender build | Small hand | Sparse scalp hair | Squamous cell carcinoma | Subcutaneous calcification | Telangiectasia of the skin | Thyroid carcinoma | Type II diabetes mellitus | White forelock | Young adult onset" ], "symptoms_ja_list": [ "II 型糖尿病 | うっ血性心不全 | インスリン抵抗性 | プロゲリア様顔貌 | リポジストロフィー | 下背部痛 | 乳房癌 | 二次性無月経 | 低身長 | 凸の鼻梁 | 前頭部白髪 | 動脈硬化症 | 卵巣新生物 | 口腔新生物 | 喉頭軟化症 | 基底細胞癌 | 声の異常 | 大脳血管の異常 | 妊孕性減少 | 小さい手 | 小腸新生物 | 常染色体潜性遺伝 | 強皮症 | 心筋梗塞 | 性腺機能低下症 | 捻転毛 | 揺り椅子状足底 | 新生物 | 早発性動脈硬化症 | 早発性毛髪白髪 | 早老外観 | 爪ジストロフィー | 狭い顔 | 甲状腺癌 | 異常なつむじ | 疎な頭髪 | 白内障 | 皮下石灰化 | 皮膚弾性欠如 | 皮膚毛細血管拡張 | 皮膚潰瘍 | 皮膚無形成/低形成 | 皮膚萎縮 | 皮膚黒色腫 | 筋萎縮 | 精巣無形成/低形成 | 精巣異常 | 糖尿病 | 細い体型 | 網膜変性 | 網膜色素異常 | 肉腫 | 肢端黒子性黒色腫 | 肺動脈狭窄 | 肺新生物 | 胃腸癌 | 胸郭の異常 | 脂肪萎縮 | 腎新生物 | 自然流産 | 足底過角化症 | 軟骨石灰化症 | 過角化症 | 関節拘縮 | 頭髪禿頭 | 骨ミネラル濃度の増加 | 骨ミネラル濃度減少 | 骨粗鬆症 | 骨肉腫 | 骨髄異形成 | 髄膜腫 | 高トリグリセリド血症 | 高血圧 | 高血糖 | 高音の声 | 鳥貌 | 黒色腫" ] }, { "id": "NANDO:2201459", "label_en": "Type I factor XIII deficiency", "label_ja": "第XIII因子欠乏症I型", "yomigana": "だいじゅうさんいんしけつぼうしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201459", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Abnormal bleeding | Abnormal umbilical stump bleeding | Autosomal recessive inheritance | Bruising susceptibility | Congenital onset | Prolonged bleeding after surgery | Reduced factor XIII activity" ], "symptoms_ja_list": [ "出血傾向 | 常染色体潜性遺伝 | 異常な出血 | 異常な臍帯断端出血 | 第 XIII 因子活性の減少 | 術後の遷延性出血" ] }, { "id": "NANDO:2200354", "label_en": "Other Cushing syndrome", "label_ja": "33から36までに掲げるもののほか、クッシング症候群", "yomigana": "33から36までにかかげるもののほか、くっしんぐしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200354", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100127", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100112", "label_en": "Acromegaly", "label_ja": "先端巨大症", "yomigana": "せんたんきょだいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100112", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200704", "label_en": "Wiskott-Aldrich syndrome", "label_ja": "ウィスコット・オルドリッチ症候群", "yomigana": "うぃすこっと・おるどりっちしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200704", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [ "Abnormal delayed hypersensitivity skin test | Abnormal eosinophil morphology | Abnormal natural killer cell physiology | Abnormal platelet function | Abnormal platelet morphology | Abnormality of the menstrual cycle | Absent microvilli on the surface of peripheral blood lymphocytes | Acute leukemia | Anemia | Arrhythmia | Arthritis | Autoimmune hemolytic anemia | Autoimmunity | Blepharitis | Bruising susceptibility | Chest pain | Chronic diarrhea | Chronic leukemia | Chronic otitis media | Chronic pulmonary obstruction | Conjunctivitis | Decreased circulating IgM concentration | Decreased mean platelet volume | Decreased specific anti-polysaccharide antibody concentration | Decreased total CD8+ T cell proportion | Decreased total lymphocyte count | Decreased total neutrophil count | Diarrhea | Dyspnea | Eczematoid dermatitis | Epistaxis | Fatigue | Fever | Gingival bleeding | Glomerulopathy | Hematemesis | Hematochezia | Hemolytic anemia | Hyperostosis | Hypoplasia of the thymus | Immunodeficiency | Increased circulating IgA concentration | Increased circulating IgE concentration | Increased total eosinophil count | Infantile onset | Inflammation of the large intestine | Internal hemorrhage | Intracranial hemorrhage | Iron deficiency anemia | Keratitis | Large vessel vasculitis | Lymphoma | Lymphoproliferative disorder | Melena | Meningitis | Microcytic anemia | Neoplasm | Nephropathy | Otitis media | Peripheral neuropathy | Petechiae | Prolonged bleeding time | Purpura | Recurrent herpes | Recurrent intrapulmonary hemorrhage | Recurrent lower respiratory tract infections | Recurrent meningitis | Recurrent otitis media | Recurrent pneumonia | Recurrent respiratory infections | Recurrent sinusitis | Recurrent upper respiratory tract infections | Reduced lymphocyte surface expression of CD43 | Sepsis | Sinusitis | Skin ulcer | Small vessel vasculitis | Specific learning disability | Spontaneous hematomas | Sudden cardiac death | Thrombocytopenia | Ulcerative colitis | Urticaria | Vasculitis | X-linked recessive inheritance | obsolete Impaired lymphocyte transformation with phytohemagglutinin" ], "symptoms_ja_list": [ "CD43 (sialophorin) のリンパ球表面発現の減少 | CD8+ T 細胞数の減少 | IgA 値増加 | IgE 値増加 | IgM欠乏症 | PHによるリンパ球変態障害 | X連鎖潜性遺伝 | ナチュラルキラー細胞生理の異常 | ヘルペスウイルスへの感受性 | リンパ増殖性疾患 | リンパ球減少症 | リンパ腫 | 下痢 | 下血 | 不整脈 | 中耳炎 | 免疫不全 | 共通 | 内出血 | 出血傾向 | 副鼻腔炎 | 反復性上気道感染症 | 反復性下気道感染症 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性呼吸器感染症 | 反復性肺内出血 | 反復性肺炎 | 反復性髄膜炎 | 吐血 | 呼吸困難 | 大腸の炎症 | 大血管血管炎 | 好中球減少症 | 好酸球の異常 | 好酸球増多症 | 小球性貧血 | 小血管血管炎 | 平均血小板容量の減少 | 急性白血病 | 慢性下痢 | 慢性中耳炎 | 慢性白血病 | 慢性閉塞性肺疾患 | 敗血症 | 新生物 | 月経周期異常 | 末梢神経ニューロパチー | 末梢血リンパ球表面の微絨毛欠損 | 歯肉出血 | 湿疹 | 溶血性貧血 | 潰瘍性大腸炎 | 点状出血 | 特異的学習障害 | 特異的抗多糖類抗体欠乏症 | 疲労 | 発熱 | 皮膚潰瘍 | 眼瞼炎 | 突然心臓死 | 糸球体症 | 紫斑 | 結膜炎 | 胸腺低形成 | 腎症 | 自己免疫 | 自己免疫性溶血性貧血 | 自然血管腫 | 蕁麻疹 | 血便排泄 | 血小板形態の異常 | 血小板機能の異常 | 血小板減少 | 血管炎 | 角膜炎 | 貧血 | 遅延型過敏症皮膚試験の異常 | 遷出血時間遷延 | 鉄欠乏症貧血 | 関節炎 | 頭蓋内出血 | 骨化過剰 | 髄膜炎 | 鼻出血" ] }, { "id": "NANDO:2200321", "label_en": "Growth hormone insensitivity", "label_ja": "成長ホルモン不応性症候群", "yomigana": "せいちょうほるもんふおうせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200321", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100114", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200776", "label_en": "Pseudohypoparathyroidism", "label_ja": "偽性副甲状腺機能低下症", "yomigana": "ぎせいふくこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200776", "notificationNumber": "236", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200651", "label_en": "Ehlers-Danlos syndrome, dermatosparaxis type", "label_ja": "皮膚脆弱型エーラス・ダンロス症候群", "yomigana": "ひふぜいじゃくがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200651", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal joint morphology | Abnormality of subcutaneous fat tissue | Aphasia | Atrophic scars | Autosomal recessive inheritance | Avascular necrosis of the capital femoral epiphysis | Blepharochalasis | Blue sclerae | Bruising susceptibility | Congenital onset | Coxa valga | Coxa vara | Delayed closure of the anterior fontanelle | Depressed nasal bridge | Dermal translucency | Downslanted palpebral fissures | Echolalia | Epicanthus | Esophagitis | Everted lower lip vermilion | Excessive wrinkled skin | Femoral hernia | Fragile skin | Frontal open bite | Gastroesophageal reflux | Gingival bleeding | Gingival hyperkeratosis | Gingival overgrowth | Hernia | Hiatus hernia | Hip dislocation | Hip dysplasia | Hirsutism | Hyperextensible skin | Hypodontia | Hypotonia | Infantile onset | Inguinal hernia | Joint dislocation | Joint hypermobility | Joint stiffness | Limb undergrowth | Low-set ears | Micrognathia | Motor delay | Mutism | Myopia | Osteomalacia | Osteopenia | Osteoporosis | Poor wound healing | Postnatal growth retardation | Premature birth | Premature rupture of membranes | Prolonged bleeding time | Recurrent mandibular subluxations | Redundant skin | Retrognathia | Rickets | Scarring | Scoliosis | Severe short stature | Short phalanx of finger | Short stature | Short toe | Soft", "doughy skin | Spontaneous neonatal pneumothorax | Telecanthus | Thick vermilion border | Thin skin | Umbilical hernia | Wide anterior fontanel" ], "symptoms_ja_list": [ "くる病 | ヘルニア | 下口唇唇紅部外反 | 下顎後退 | 低身長 | 側弯 | 傷治癒不全 | 内反股 | 内眼角外方偏位 | 内眼角贅皮 | 出血傾向 | 分厚い唇紅部縁 | 前期破水 | 前部開放咬合 | 反復性下顎亜脱臼 | 反響言語 | 四肢成長不全 | 外反股 | 多毛 | 大泉門閉鎖遅延 | 大腿ヘルニア | 大腿骨骨頭骨端の無血管性壊死 | 失語症 | 小顎 | 常染色体潜性遺伝 | 幅広い大泉門 | 早産 | 柔らかいパン生地様の皮膚 | 歯肉出血 | 歯肉過成長 | 歯肉過角化症 | 減歯症 | 無言症 | 生後の成長遅滞 | 瘢痕 | 皮下脂肪組織の異常 | 皮膚透明性 | 眼瞼皮膚弛緩症 | 眼瞼裂斜下 | 短い指骨 | 短い趾 | 筋緊張低下 | 耳介低位 | 股関節異形成 | 股関節脱臼 | 胃食道逆流 | 脆い皮膚 | 臍ヘルニア | 自然新生児気胸 | 萎縮性瘢痕 | 落ちくぼんだ鼻梁 | 薄い皮膚 | 裂孔ヘルニア | 近視 | 運動発達遅滞 | 過伸展皮膚 | 過剰な皮膚 | 過剰な皺の多い皮膚 | 遷出血時間遷延 | 重度の低身長 | 関節形態異常 | 関節拘縮 | 関節脱臼 | 関節過動 | 青色胸膜 sclerae | 食道炎 | 骨減少症 | 骨粗鬆症 | 骨軟化症 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200106", "label_en": "Morquio syndrome type A", "label_ja": "モルキオ症候群A型", "yomigana": "もるきおしょうこうぐんえーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200106", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal heart valve morphology | Anterior beaking of lumbar vertebrae | Autosomal recessive inheritance | Carious teeth | Cervical myelopathy | Cervical subluxation | Chondroitin sulfate excretion in urine | Coarse facial features | Constricted iliac wing | Coxa valga | Disproportionate short-trunk short stature | Dysostosis multiplex | Epiphyseal deformities of tubular bones | Flaring of rib cage | Genu valgum | Grayish enamel | Hearing impairment | Hepatomegaly | Hyperlordosis | Hypoplasia of the odontoid process | Infantile onset | Inguinal hernia | Intellectual disability | Joint hypermobility | Juvenile onset | Keratan sulfate excretion in urine | Kyphosis | Lumbar kyphosis | Mandibular prognathia | Metaphyseal widening | Motor delay | Opacification of the corneal stroma | Osteoporosis | Ovoid vertebral bodies | Pectus carinatum | Platyspondyly | Pointed proximal second through fifth metacarpals | Prominent sternum | Recurrent pneumonia | Recurrent upper respiratory tract infections | Restrictive ventilatory defect | Scoliosis | Short neck | Ulnar deviation of the wrist | Waddling gait | Wide mouth | Widely spaced teeth" ], "symptoms_ja_list": [ "はと胸 | よたつき歩行 | 下顎突出 | 不均衡性短躯低身長 | 側弯 | 前弯 | 卵形椎体骨 | 反復性上気道感染症 | 反復性肺炎 | 外反股 | 外反膝 | 多発性異骨症 | 尖った第2-第4中手骨近位 | 尿中硫酸ケラタン排泄 | 尿中硫酸コンドロイチン排泄 | 常染色体潜性遺伝 | 幅広い口 | 後弯 | 心弁の異常 | 扁平脊椎 | 手関節の尺側偏位 | 拘束性肺疾患 | 歯状突起低形成 | 歯間隔離 | 灰色のエナメル質 | 目立つ胸骨 | 知的障害 | 短い頸部 | 管状骨骨端の変形 | 粗な顔貌 | 肋骨胸郭のフレア | 肝腫 | 腰椎のくちばし状前方突出 | 腰椎後弯 | 腸骨翼狭窄 | 角膜間質混濁形成 | 運動発達遅滞 | 関節過動 | 難聴 | 頚椎亜脱臼 | 頚髄ミエロパチー | 骨幹端拡大 | 骨粗鬆症 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:1200196", "label_en": "Typical subacute sclerosing panencephalitis", "label_ja": "亜急性硬化性全脳炎（典型）", "yomigana": "あきゅうせいこうかせいぜんのうえん（てんけい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200196", "notificationNumber": "24", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal brain choline/creatine ratio by MRS | Abnormality of extrapyramidal motor function | Akinetic mutism | Ataxia | Atypical behavior | Autosomal recessive inheritance | Brain atrophy | CSF pleocytosis | Chorioretinitis | Delusion | Dementia | Depression | Dyskinesia | Dystonia | EEG with periodic complexes | Gait disturbance | Hallucinations | Infectious encephalitis | Irritability | Lethargy | Loss of speech | Mental deterioration | Myoclonus | Papilledema | Reduced brain N-acetyl aspartate level by MRS | Retinal hemorrhage | Seizure | Sleep disturbance | Spasticity | Ventriculomegaly | Visual loss" ], "symptoms_ja_list": [ "Dementia | MRSによる異常な脳コリン/クレアチン比 | MRSによる脳 N-acetyl aspartate 値現象 | うつ | ジスキネジア | ジストニア | ミオクローヌス | 乳頭浮腫 | 周期性複合を伴う脳波 | 妄想 | 常染色体潜性遺伝 | 幻覚 | 歩行障害 | 無動性無言症 | 無気力 | 異常な自律神経生理 | 痙性 | 発作 | 発語喪失 | 睡眠障害 | 知能悪化 | 網膜出血 | 脈絡膜網膜炎 | 脳室拡大 | 脳炎 | 脳萎縮 | 行動異常 | 被刺激性 | 視力喪失 | 運動失調 | 錐体外路運動機能の異常 | 髄液細胞増症" ] }, { "id": "NANDO:1200903", "label_en": "Hirschsprung disease", "label_ja": "ヒルシュスプルング病", "yomigana": "ひるしゅすぷるんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200903", "notificationNumber": "291", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Aganglionic megacolon | Constipation | Diarrhea | Enterocolitis | Failure to thrive in infancy | Feeding difficulties | Functional abnormality of the gastrointestinal tract | Growth delay | Intestinal obstruction | Nausea and vomiting | Polyhydramnios | Sepsis | Short stature | Weight loss" ], "symptoms_ja_list": [ "下痢 | 乳児期の成長障害 (成長不全) | 低身長 | 体重喪失 | 便秘 | 吐気と 嘔吐 | 小腸結腸炎 | 成長遅滞 | 敗血症 | 無神経節性巨大結腸 | 羊水過多 | 胃腸管機能異常 | 腸閉塞 | 腹痛 | 腹部膨満 | 食餌摂取障害" ] }, { "id": "NANDO:1201086", "label_en": "Cardiac-valvular Ehlers-Danlos syndrome", "label_ja": "心臓弁型エーラス・ダンロス症候群", "yomigana": "しんぞうべんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201086", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal heart valve morphology | Absent phalangeal crease | Aortic regurgitation | Aortic root aneurysm | Atrial septal defect | Atrophic scars | Autosomal recessive inheritance | Bruising susceptibility | Bulbous nose | Calcaneovalgus deformity | Dental crowding | Disproportionate tall stature | Dyspnea | Fatigue | Genu recurvatum | Genu valgum | Global developmental delay | Hallux valgus | High palate | Hyperextensible skin | Hypermobility of distal interphalangeal joints | Inguinal hernia | Joint dislocation | Joint hypermobility | Kyphoscoliosis | Left ventricular hypertrophy | Long fingers | Mitral regurgitation | Mitral valve prolapse | Moderate intellectual disability | Myopia | Pectus excavatum | Pes planus | Poor wound healing | Ptosis | Pulmonic regurgitation | Sandal gap | Seizure | Severe conductive hearing impairment | Short stature | Soft skin | Soft", "doughy skin | Strabismus | Tendon rupture | Thick eyebrow | Thin skin | Thoracolumbar scoliosis | Tricuspid regurgitation" ], "symptoms_ja_list": [ "サンダルギャップ | 三尖弁逆流 | 不均衡型高身長 | 低身長 | 傷治癒不全 | 僧帽弁逆流 | 僧帽弁逸脱 | 全般性発達遅滞 | 出血傾向 | 分厚い眉毛 | 反張膝 | 呼吸困難 | 外反母趾 | 外反膝 | 外反踵骨変形 | 大動脈基部拡大 | 大動脈逆流 | 左室肥大 | 常染色体潜性遺伝 | 後側弯 | 心弁の異常 | 心房中隔欠損 | 扁平足 | 指屈曲線欠損 | 斜視 | 柔らかいパン生地様の皮膚 | 柔らかい皮膚 | 歯混雑 | 漏斗胸 | 球状の鼻 | 疲労 | 発作 | 眼瞼下垂 | 知的障害", "中道動脈瘤 | 肺不全 | 胸腰椎側弯 | 腱破裂 | 萎縮性瘢痕 | 薄い皮膚 | 近視 | 過伸展皮膚 | 遠位指間(IP)関節過動 | 重度伝音難聴 | 長い指 | 関節脱臼 | 関節過動 | 高口蓋 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201090", "label_en": "Presymptomatic ornitine transcarbamylase deficiency", "label_ja": "発症前型オルニチントランスカルバミラーゼ欠損症", "yomigana": "はっしょうまえがたおるにちんとらんすかるばみらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201090", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200429", "label_en": "Chronic thromboembolic pulmonary hypertension", "label_ja": "慢性血栓塞栓性肺高血圧症", "yomigana": "まんせいけっせんそくせんせいはいこうけつあつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200429", "notificationNumber": "88", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal T-wave | Abnormal left ventricular function | Abnormality of blood and blood-forming tissues | Abnormality of von Willebrand factor | Antiphospholipid antibody positivity | Autoimmunity | Cardiac shunt | Central sleep apnea | Complete right bundle branch block | Congestive heart failure | Deep venous thrombosis | Depression | Dysfibrinogenemia | Edema | Elevated circulating C-reactive protein concentration | Elevated circulating HDL-C concentration | Exertional dyspnea | Fatigue | Hypocapnia | Increased pulmonary vascular resistance | Inflammation of the large intestine | Myeloproliferative disorder | Neoplasm | Obesity | Osteomyelitis | Palpitations | Pulmonary arterial hypertension | Pulmonary embolism | Recurrent thromboembolism | Reduced vital capacity | Right ventricular dilatation | Right ventricular failure | Syncope" ], "symptoms_ja_list": [ "CRP 上昇 | von Willebrand 因子の異常 | うっ血性心不全 | うつ | 中枢性睡眠時無呼吸 | 低二酸化炭素症 | 動悸 | 反復性血栓性塞栓症 | 右室不全 | 右室拡張 | 右脚ブロック | 大腸の炎症 | 失心 | 左室機能障害 | 心シャント | 心電図: T-波異常 | 抗リン脂質抗体陽性 | 新生物 | 浮腫 | 深部静脈血栓症 | 異常フィブリノーゲン血症 | 疲労 | 肥満 | 肺塞栓症 | 肺活量減少 | 肺血管抵抗の増加 | 肺高血圧 | 自己免疫 | 血液および血液痙性組織の異常 | 運動性呼吸困難 | 骨髄増殖性疾患 | 骨髄炎 | 高αリポタンパク血症" ] }, { "id": "NANDO:2200646", "label_en": "Other thrombocytopenic purpura", "label_ja": "23に掲げるもののほか、血小板減少性紫斑病", "yomigana": "23にかかげるもののほか、けっしょうばんげんしょうせいしはんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200646", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100188", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200115", "label_en": "Hyaluronidase deficiency", "label_ja": "ヒアルロニダーゼ欠損症", "yomigana": "ひあるろにだーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200115", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal acetabulum morphology | Autosomal recessive inheritance | Bifid uvula | Childhood onset | Chondrocalcinosis | Depressed nasal bridge | Finger joint hypermobility | Hyperextensibility at elbow | Juvenile onset | Lumbar scoliosis | Recurrent otitis media | Short stature | Submucous cleft hard palate | Synovitis | Wrist hypermobility" ], "symptoms_ja_list": [ "二分した口蓋垂 | 低身長 | 反復性中耳炎 | 寛骨臼の異常 | 常染色体潜性遺伝 | 手関節過伸展 | 指関節過動 | 滑膜炎 | 粘膜下硬口蓋裂 | 肘過伸展 | 腰椎側弯 | 落ちくぼんだ鼻梁 | 軟骨石灰化症" ] }, { "id": "NANDO:2200501", "label_en": "Glutaric acidemia type 1", "label_ja": "グルタル酸血症1型", "yomigana": "ぐるたるさんけつしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200501", "notificationNumber": "97", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormal basal ganglia morphology | Abnormal caudate nucleus morphology | Abnormal cerebral white matter morphology | Abnormal circulating enzyme concentration or activity | Abnormality of the respiratory system | Absent speech | Acute encephalopathy | Ataxia | Athetosis | Autosomal recessive inheritance | Cerebral atrophy | Childhood onset | Chorea | Choreoathetosis | Chronic kidney disease | Cognitive impairment | Communicating hydrocephalus | Delayed speech and language development | Dementia | Developmental regression | Dysarthria | Dysphagia | Dystonia | Elevated circulating glutaric acid concentration | Encephalopathy | Enlarged sylvian cistern | Exercise intolerance | Failure to thrive | Fasting hypoglycemia | Feeding difficulties | Generalized hypotonia | Global developmental delay | Glutaric aciduria | Headache | Hepatomegaly | Hydrocephalus | Hypoglycemia | Hypotonia | Inability to walk | Incoordination | Infantile encephalopathy | Infantile onset | Infantile spasms | Irritability | Joint dislocation | Juvenile onset | Ketonuria | Ketosis | Lateral ventricle dilatation | Limb dystonia | Loss of consciousness | Macrocephaly | Metabolic acidosis | Neonatal onset | Open operculum | Opisthotonus | Pallidal degeneration | Peripheral neuropathy | Progressive macrocephaly | Retinal hemorrhage | Rigidity | Seizure | Severe muscular hypotonia | Spastic diplegia | Subdural hemorrhage | Subependymal nodules | Symmetrical progressive peripheral demyelination | T2 hypointense basal ganglia | Tremor | Ventriculomegaly | Vertigo | Widened subarachnoid space" ], "symptoms_ja_list": [ "Dementia | T2 低輝度基底核 | アテトーゼ | グルタル酸尿 | グルタル酸酸血症 | ケトン尿 | ケトン症 | シルヴィウス槽拡大 | ジストニア | 上衣下結節 | 乳児スパスム | 乳児脳症 | 交通性水頭症 | 代謝性アシドーシス | 低血糖 | 側脳室拡大 | 全般性発達遅滞 | 全身性筋緊張低下 | 協調運動障害 | 呼吸器の異常 | 嚥下障害 | 四肢ジストニア | 基底核の異常 | 大脳白質の異常 | 大脳萎縮 | 大頭 | 対称性進行性末梢神経脱髄 | 尾状核の異常 | 常染色体潜性遺伝 | 幅広いクモ膜下腔 | 後弓反張 | 急性脳症 | 意識喪失 | 慢性腎疾患 | 成長障害 (成長不全) | 振戦 | 末梢神経ニューロパチー | 構音障害 | 歩行不能 | 水頭症 | 淡蒼球変性 | 痙性両麻痺 | 発作 | 発語および言語発達遅延 | 発語欠損 | 発達退行 | 眩暈 | 硬直 | 硬膜下出血 | 空腹時低血糖 | 筋緊張低下 | 網膜出血 | 肝腫 | 脳室拡大 | 脳症 | 舞踏病 | 舞踏病アテトーゼ | 被刺激性 | 認知障害 | 進行性大頭 | 運動不耐症 | 運動失調 | 重度筋緊張低下 | 開放性弁蓋 | 関節脱臼 | 頭痛 | 食餌摂取障害 | 高度/補酵素活性異常" ] }, { "id": "NANDO:2200091", "label_en": "Craniopharyngioma", "label_ja": "頭蓋咽頭腫", "yomigana": "ずがいいんとうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200091", "notificationNumber": "60", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Abnormal hypothalamus morphology | Abnormal nasal bone morphology | Atypical behavior | Central adrenal insufficiency | Central diabetes insipidus | Cerebral calcification | Cerebral ischemia | Coma | Delayed puberty | Enlarged pituitary gland | Excessive daytime somnolence | Global developmental delay | Growth delay | Headache | Hearing impairment | Hydrocephalus | Hypogonadism | Hypogonadotropic hypogonadism | Increased circulating prolactin concentration | Increased intracranial pressure | Increased susceptibility to fractures | Intellectual disability | Intracranial cystic lesion | Myocardial infarction | Nausea and vomiting | Neoplasm of the anterior pituitary | Obesity | Optic atrophy | Papilledema | Pituitary hypothyroidism | Polyphagia | Postnatal growth retardation | Progressive visual field defects | Proportionate short stature | Recurrent infections | Seizure | Sleep apnea | Sleep disturbance | Slow decrease in visual acuity | Sudden loss of visual acuity | Type II diabetes mellitus | Vertigo" ], "symptoms_ja_list": [ "II 型糖尿病 | プロラクチン過剰症 | 下垂体前葉新生物 | 下垂体甲状腺機能低下症 | 下垂体腫大 | 不均衡型低身長 | 中枢性副腎不全 | 中枢性尿崩症 | 乳頭浮腫 | 低ゴナドトロピン性性腺機能低下症 | 全般性発達遅滞 | 反復性感染症 | 吐気と 嘔吐 | 嗜眠 | 大脳石灰化 | 大脳虚血 | 心筋梗塞 | 思春期遅発 | 性腺機能低下症 | 成長遅滞 | 昏睡 | 易骨折性の増加 | 水頭症 | 生後の成長遅滞 | 異常な視床下部形態 | 発作 | 眩暈 | 睡眠時無呼吸 | 睡眠障害 | 知的障害 | 突然の中心視力喪失 | 肥満 | 行動異常 | 視力の緩徐な減少 | 視神経萎縮 | 進行性視野障害 | 過食症 | 難聴 | 頭痛 | 頭蓋内嚢胞病変 | 頭蓋内圧の増加 | 鼻骨の異常" ] }, { "id": "NANDO:2100191", "label_en": " Congenital bone marrow failure syndrome", "label_ja": "先天性骨髄不全症候群", "yomigana": "せんてんせいこつずいふぜんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100191", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200647", "label_en": "Ehlers-Danlos syndrome, hypermobility type", "label_ja": "関節型エーラス・ダンロス症候群", "yomigana": "かんせつがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200647", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal foot morphology | Abnormality of the wrist | Acrocyanosis | Anorectal anomaly | Anxiety | Aortic root aneurysm | Aplasia/Hypoplasia of the abdominal wall musculature | Apnea | Arachnodactyly | Arrhythmia | Arterial dissection | Arthralgia | Ascending tubular aorta aneurysm | Atypical scarring of skin | Autosomal dominant inheritance | Bruising susceptibility | Chronic pain | Constipation | Cystocele | Decreased fertility | Decreased nerve conduction velocity | Dental crowding | Depression | Elbow dislocation | Epicanthus | Epistaxis | Exercise-induced myalgia | Fatigue | Gastroesophageal reflux | Gastrointestinal dysmotility | Genital hernia | Gingival overgrowth | Gingivitis | High myopia | High", "narrow palate | Hip dislocation | Hyperextensible skin | Hypotonia | Inguinal hernia | Joint dislocation | Joint hypermobility | Keratoconjunctivitis sicca | Keratoconus | Limitation of joint mobility | Loss of ambulation | Malabsorption | Microdontia | Migraine | Mitral valve prolapse | Muscle weakness | Myalgia | Nausea and vomiting | Osteoarthritis | Osteolysis | Paresthesia | Pes planus | Ptosis | Rectal prolapse | Scarring | Scoliosis | Sleep disturbance | Soft skin | Striae distensae | Subcutaneous nodule | Tendon rupture | Thin skin | Umbilical hernia | Venous insufficiency | Vertigo | Wormian bones" ], "symptoms_ja_list": [ "うつ | くも指 | ウォルム氏骨 | 上行大動脈拡張 | 不安 | 不整脈 | 乾燥性 | 伸展線 | 便秘 | 偏頭痛 | 側弯 | 僧帽弁逸脱 | 内眼角贅皮 | 円錐角膜 | 出血傾向 | 動脈解離 | 吐気と 嘔吐 | 吸収障害 | 大動脈基部拡大 | 妊孕性減少 | 小歯 | 常染色体顕性遺伝 | 性器ヘルニア | 感覚異常 | 慢性疼痛 | 扁平足 | 手関節の異常 | 柔らかい皮膚 | 歯混雑 | 歯肉炎 | 歯肉過成長 | 無呼吸 | 異常な自律神経生理 | 疲労 | 瘢痕 | 皮下結節 | 直腸逸脱 | 眩暈 | 眼瞼下垂 | 睡眠障害 | 神経活動電位の振幅減少 | 筋痛 | 筋緊張低下 | 筋虚弱 | 肘脱臼 | 肛門直腸奇形 | 股関節脱臼 | 肢端チアノーゼ | 胃腸蠕動運動異常 | 胃食道逆流 | 腱破裂 | 腹壁筋無形成/低形成 | 膀胱瘤 | 臍ヘルニア | 薄い皮膚 | 足の異常 | 進行性歩行不安定 | 運動誘発性筋痛 | 過伸展皮膚 | 重度近視 | 関節痛 | 関節脱臼 | 関節運動制限 | 関節過動 | 静脈不全 | 非典型的皮膚瘢痕 | 骨融解 | 骨関節炎 | 高狭口蓋 | 鼠径ヘルニア | 鼻出血" ] }, { "id": "NANDO:1200543", "label_en": "Superficial siderosis", "label_ja": "脳表ヘモジデリン沈着症", "yomigana": "のうひょうへもじでりんちんちゃくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200543", "notificationNumber": "122", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal bleeding | Abnormal cerebellar vermis morphology | Abnormal cerebrospinal fluid morphology | Abnormal corpus callosum morphology | Abnormal pyramidal sign | Abnormal spinal cord morphology | Abnormal vestibulocochlear nerve morphology | Anisocoria | Anosmia | Arteriovenous malformation | Ataxia | Atrophy of the spinal cord | Atrophy/Degeneration affecting the brainstem | Babinski sign | Back pain | Bilateral sensorineural hearing impairment | Cerebellar atrophy | Cognitive impairment | Dementia | Difficulty standing | Dysarthria | Dysdiadochokinesis | Dysmetria | Enlarged sylvian cistern | Frequent falls | Functional abnormality of the bladder | Headache | Impaired pain sensation | Impaired temperature sensation | Increased CSF protein concentration | Internal hemorrhage | Limb ataxia | Lower limb muscle weakness | Memory impairment | Nausea | Neoplasm of the central nervous system | Paresthesia | Partial anosmia | Persistent bleeding after trauma | Progressive gait ataxia | Seizure | Slurred speech | Subarachnoid hemorrhage | Unsteady gait | Vertigo | Vomiting" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | クモ膜下出血 | シルヴィウス槽拡大 | 下肢筋虚弱 | 不安定歩行 | 不明瞭言語 | 両側性感音難聴 | 中枢神経新生物 | 内出血 | 前庭蝸牛神経の異常 | 動静脈奇形 | 吐気 | 嘔吐 | 四肢失調 | 外傷後の持続性出血 | 小脳萎縮 | 小脳虫部の異常 | 感覚異常 | 拮抗運動反復不全 | 構音障害 | 温度覚障害 | 測定障害 | 無嗅覚 | 異常な出血 | 痛覚障害 | 発作 | 眩暈 | 瞳孔左右不同症; | 背部痛 | 脊髄の異常 | 脊髄萎縮 | 脳幹萎縮/変性 | 脳梁の異常 | 膀胱機能異常 | 記憶障害 | 認知障害 | 起立困難 | 進行性歩行失調 | 運動失調 | 部分的無嗅覚 | 錐体路運動機能の異常 | 頭痛 | 頻回の転倒 | 髄液の異常 | 髄液タンパクの増加" ] }, { "id": "NANDO:1200427", "label_en": "Pulmonary veno-occlusive disease", "label_ja": "肺静脈閉塞症", "yomigana": "はいじょうみゃくへいそくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200427", "notificationNumber": "87", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200896", "label_en": "Autoimmune acquired coagulation factor deficiency", "label_ja": "自己免疫性後天性凝固因子欠乏症", "yomigana": "じこめんえきせいこうてんせいぎょうこいんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200896", "notificationNumber": "288", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200602", "label_en": "Landau-Kleffner syndrome", "label_ja": "ランドウ・クレフナー症候群", "yomigana": "らんどう・くれふなーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200602", "notificationNumber": "155", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Aggressive behavior | Anxiety | Aphasia | Attention deficit hyperactivity disorder | Atypical absence seizure | Atypical behavior | Autistic behavior | Bilateral tonic-clonic seizure | Depression | Developmental regression | Difficulty standing | EEG with frontal focal spikes | EEG with generalized epileptiform discharges | EEG with temporal focal spikes | Emotional lability | Epileptic encephalopathy | Focal impaired awareness seizure | Focal motor seizure | Focal myoclonic seizure | Frequent falls | Gait ataxia | Generalized clonic seizure | Generalized non-motor (absence) seizure | Hyperactivity | Impulsivity | Language impairment | Loss of speech | Memory impairment | Mutism | Seizure | Short attention span | Sleep disturbance | Slurred speech | Social and occupational deterioration | Speech apraxia | Speech articulation difficulties | Steppage gait" ], "symptoms_ja_list": [ "うつ | てんかん性脳症 | 不安 | 不明瞭言語 | 側頭焦点性棘波を伴う脳波 | 全般性てんかん性放電を伴う脳波 | 全身性間代性強直性発作 | 全身性間代性発作 | 多動 | 失語症 | 情動不安定 | 意識または覚醒障害を伴う焦点性発作 | 攻撃的行動 | 欠神発作 | 歩行失調 | 注意力欠陥多動性疾患 | 無言症 | 焦点性ミオクロニー発作 | 焦点性棘波を伴う脳波 | 焦点性運動発作 | 発作 | 発語喪失 | 発語失行症 | 発語調音困難 | 発達退行 | 睡眠障害 | 短い注意期間 | 社会的および職業的悪化 | 自閉性行動 | 行動異常 | 衝動性 | 言語障害 | 記憶障害 | 起立困難 | 非典型的欠伸発作 | 頻回の転倒 | 鶏歩" ] }, { "id": "NANDO:2200163", "label_en": "Pelvic kidney", "label_ja": "骨盤腎", "yomigana": "こつばんじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200163", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200730", "label_en": "Syntaxin 11 deficiency", "label_ja": "Syntaxin11欠損症", "yomigana": "しんたきしん11けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200730", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Anemia | Autosomal recessive inheritance | Childhood onset | Conjunctivitis | Decreased total neutrophil count | Edema | Fever | Global developmental delay | Hemophagocytosis | Hepatomegaly | Hypertriglyceridemia | Hypofibrinogenemia | Hypotonia | Increased circulating ferritin concentration | Infantile onset | Jaundice | Lymphadenopathy | Recurrent fever | Seizure | Skin rash | Splenomegaly | Thrombocytopenia" ], "symptoms_ja_list": [ "リンパ節腫大 | 低フィブリノーゲン血症 | 全般性発達遅滞 | 好中球減少症 | 常染色体潜性遺伝 | 浮腫 | 発作 | 発熱 | 発熱エピソード | 皮膚発疹 | 筋緊張低下 | 結膜炎 | 肝腫 | 脾腫 | 血小板減少 | 血液貪食症 | 血清フェリチン増加 | 貧血 | 高トリグリセリド血症 | 黄疸" ] }, { "id": "NANDO:1200319", "label_en": "Secondary thrombotic thrombocytopenic purpura", "label_ja": "後天性二次性血栓性血小板減少性紫斑病", "yomigana": "こうてんせいにじせいけっせんせいけっしょうばんげんしょうせいしはんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200319", "notificationNumber": "64", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abdominal pain | Abnormal EKG | Acute kidney injury | Aphasia | Arrhythmia | Arthralgia | Chest pain | Coma | Confusion | Congestive heart failure | Diarrhea | Diplopia | Dyspnea | Elevated circulating creatinine concentration | Fatigue | Fever | Headache | Hematuria | Hyperbilirubinemia | Increased blood urea nitrogen | Low back pain | Microangiopathic hemolytic anemia | Muscle weakness | Myalgia | Myocardial infarction | Nausea | Proteinuria | Purpura | Reticulocytosis | Schistocytosis | Seizure | Stroke | Sudden cardiac death | Thrombocytopenia | Unconjugated hyperbilirubinemia" ], "symptoms_ja_list": [ "うっ血性心不全 | 下痢 | 下背部痛 | 不抱合型高ビリルビン血症 | 不整脈 | 共通 | 分裂赤血球増加症 | 卒中 | 吐気 | 呼吸困難 | 失語症 | 微小血管症性溶血性貧血 | 心筋梗塞 | 心電図異常 | 急性腎外傷 | 昏睡 | 疲労 | 発作 | 発熱 | 突然心臓死 | 筋痛 | 筋虚弱 | 紫斑 | 網状赤血球増多症 | 腹痛 | 蛋白尿 | 血中尿素窒素(BUN)増加 | 血小板減少 | 血尿 | 血清クレアチン症状 | 複視 | 錯乱 | 関節痛 | 頭痛 | 高ビリルビン血症" ] }, { "id": "NANDO:1201005", "label_en": "Idiopathic multicentric Castleman's disease", "label_ja": "特発性多中心性キャッスルマン病", "yomigana": "とくはつせいたちゅうしんせいきゃっするまんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201005", "notificationNumber": "331", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200361", "label_en": "IRAK4 deficiency", "label_ja": "IRAK4欠損症", "yomigana": "あいらっく4けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200361", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal total B cell count | Abnormal total T cell number | Autosomal recessive inheritance | Childhood onset | Decreased total neutrophil count | Fever | Immunodeficiency | Increased circulating IgE concentration | Infantile onset | Liver abscess | Meningitis | Recurrent bacterial infections | Recurrent bacterial skin infections | Recurrent staphylococcal infections | Recurrent streptococcus pneumoniae infections | Septic arthritis" ], "symptoms_ja_list": [ "B 細胞数の異常 | IgE 値増加 | T 細胞数の異常 | 免疫不全 | 反復性ブドウ球菌感染症 | 反復性細菌性皮膚感染症 | 反復性細菌感染症 | 好中球減少症 | 常染色体潜性遺伝 | 敗血症性関節炎 | 発熱 | 肝膿瘍 | 髄膜炎" ] }, { "id": "NANDO:1200681", "label_en": "Young-Simpson syndrome", "label_ja": "ヤング・シンプソン症候群", "yomigana": "やんぐ・しんぷそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200681", "notificationNumber": "196", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal antihelix morphology | Abnormal cheek morphology | Abnormal nasolacrimal system morphology | Atrial septal defect | Atrioventricular canal defect | Autosomal dominant inheritance | Bifid uvula | Bilateral single transverse palmar creases | Blepharophimosis | Bulbous nose | Camptodactyly of finger | Cleft palate | Clinodactyly of the 5th finger | Cryptorchidism | Depressed nasal bridge | Dilated cardiomyopathy | Ectopic thyroid | Epicanthus inversus | Failure to thrive | Feeding difficulties | Global developmental delay | Growth delay | Hearing impairment | Hypospadias | Hypothyroidism | Hypotonia | Infantile onset | Intellectual disability | Joint hypermobility | Long hallux | Long nose | Low-set ears | Microcephaly | Microdontia | Micrognathia | Motor delay | Neoplasm of the tongue | Patellar dislocation | Patent ductus arteriosus | Polyhydramnios | Posteriorly rotated ears | Prominent nose | Prominent occiput | Recurrent respiratory infections | Retrognathia | Seizure | Severe intellectual disability | Severe short stature | Short palpebral fissure | Sloping forehead | Specific learning disability | Submucous cleft hard palate | Thin upper lip vermilion | Thyroid agenesis | Thyroid dysgenesis | Thyroid hypoplasia | Ventricular septal defect" ], "symptoms_ja_list": [ "下顎後退 | 両側性単一手掌横線 | 二分した口蓋垂 | 停留精巣 | 全般性発達遅滞 | 動脈管開存症 | 反復性呼吸器感染症 | 口蓋裂 | 対耳輪の異常 | 小歯 | 小頭 | 小顎 | 尿道下裂 | 屈指 | 常染色体顕性遺伝 | 心室中隔欠損 | 心房中隔欠損 | 成長遅滞 | 成長障害 (成長不全) | 房室管欠損 | 拡張型心筋症 | 特異的学習障害 | 球状の鼻 | 甲状腺低形成 | 甲状腺機能低下症 | 甲状腺無発生 | 甲状腺異発生 | 異所性甲状腺 | 発作 | 目立つ後頭 | 目立つ鼻 | 眼瞼裂狭小 | 知的障害 | 知的障害", "重度 | 短い眼瞼裂 | 第5指弯指 | 筋緊張低下 | 粘膜下硬口蓋裂 | 羊水過多 | 耳介低位 | 耳介後方回転 | 膝蓋骨脱臼 | 舌新生物 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 逆内眼角贅皮 | 運動発達遅滞 | 重度の低身長 | 長い母趾 | 長い鼻 | 関節過動 | 難聴 | 頬部の異常 | 額傾斜 | 食餌摂取障害 | 鼻涙管の異常" ] }, { "id": "NANDO:1201147", "label_en": "DYT28 Dystonia", "label_ja": "DYT28 ジストニア", "yomigana": "でぃーわいてぃー28じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1201147", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormality of eye movement | Anarthria | Anxiety | Astigmatism | Attention deficit hyperactivity disorder | Autistic behavior | Autosomal dominant inheritance | Bulbous nose | Childhood onset | Clinodactyly of the 5th finger | Cognitive impairment | Craniofacial dystonia | Delayed speech and language development | Depression | Dysarthria | Dysphagia | Dysphonia | Dystonia | Feeding difficulties | Gait disturbance | Generalized dystonia | Global developmental delay | Hypothyroidism | Intellectual disability | Juvenile onset | Laryngeal dystonia | Long face | Microcephaly | Mild intellectual disability | Motor delay | Myoclonus | Neurodevelopmental delay | Nystagmus | Oromandibular dystonia | Precocious puberty | Progressive | Retrocollis | Short stature | Spasticity | Strabismus | Torticollis | Tremor | Typified by incomplete penetrance" ], "symptoms_ja_list": [ "うつ | ジストニア | ミオクローヌス | 不安 | 乱視 | 低身長 | 全般性発達遅滞 | 全身性ジストニア | 口下顎ジストニア | 喉頭ジストニア | 嚥下障害 | 小頭 | 常染色体顕性遺伝 | 思春期早発 | 振戦 | 斜視 | 斜頚 | 構語障害 | 構音障害 | 歩行障害 | 注意力欠陥多動性疾患 | 球状の鼻 | 甲状腺機能低下症 | 痙性 | 発語および言語発達遅延 | 発音障害 | 直腸結腸炎 | 眼振 | 眼運動の異常 | 知的障害 | 知的障害", "軽度 | 神経発生遅延 | 第5指弯指 | 自閉性行動 | 認知障害 | 運動発達遅滞 | 錐体路運動機能の異常 | 長い顔 | 頭蓋顔面ジストニア | 食餌摂取障害" ] }, { "id": "NANDO:2201119", "label_en": "Presymptomatic 3-hydroxy-3-methylglutaric acidemia", "label_ja": "発症前型3-ヒドロキシ-3-メチルグルタル酸血症", "yomigana": "はっしょうまえがた3ひどろきし3めちるぐるたるさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201119", "notificationNumber": "102", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "3-Methylglutaric aciduria | Abnormal cerebral white matter morphology | Acute pancreatitis | Anemia | Anorexia | Apathy | Apnea | Ataxia | Autosomal recessive inheritance | Cardiac arrest | Coma | Death in childhood | Decreased circulating carnitine concentration | Decreased total leukocyte count | Dehydration | Diarrhea | Dilated cardiomyopathy | Drowsiness | Dysarthria | EEG abnormality | Edema | Elevated circulating hepatic transaminase concentration | Encephalopathy | Episodic vomiting | Excessive daytime somnolence | Fatigue | Fever | Global developmental delay | Glutaric aciduria | Hepatomegaly | Hyperammonemia | Hyperuricemia | Hypoglycemia | Hypoglycemic coma | Hyporeflexia | Hypotension | Hypothermia | Hypotonia | Hypsarrhythmia | Increased circulating lactate concentration | Increased total leukocyte count | Jaundice | Ketonuria | Lethargy | Leukoencephalopathy | Lipid accumulation in hepatocytes | Metabolic acidosis | Microcephaly | Mild intellectual disability | Moderate intellectual disability | Myoclonus | Nonketotic hypoglycemia | Organic aciduria | Pallor | Prolonged prothrombin time | Recurrent hypoglycemia | Reye syndrome-like episodes | Seizure | Severe intellectual disability | Spastic hemiparesis | Spasticity | Tachypnea | Thrombocytosis | Weight loss" ], "symptoms_ja_list": [ "3-メチルグルタル酸尿症 | Reye 症様エピソード | グルタル酸尿 | ケトン尿 | ヒプスアリスミア | プロトロンビン時間遷延 | ミオクローヌス | 下痢 | 代謝性アシドーシス | 低体温 | 低血圧 | 低血糖 | 低血糖性昏睡 | 体重喪失 | 全般性発達遅滞 | 反射低下 | 反復性低血糖 | 嗜眠 | 嘔吐エピソード | 多呼吸 | 大脳白質の異常 | 小頭 | 常染色体潜性遺伝 | 心停止 | 急性膵炎 | 拡張型心筋症 | 昏睡 | 有機酸尿 | 構音障害 | 浮腫 | 無呼吸 | 無気力 | 無関心", "感情鈍磨 | 疲労 | 痙性 | 痙性片麻痺 | 発作 | 発熱 | 白血球増多症 | 白血球減少症 | 白質脳症 | 眠気 | 知的障害", "中道動脈瘤 | 知的障害", "軽度 | 知的障害", "重度 | 筋緊張低下 | 肝トランスアミナーゼ上昇 | 肝細胞の脂質蓄積 | 肝腫 | 脱水 | 脳波異常 | 脳症 | 蒼白 | 血小板増多症 | 血清乳酸増加 | 血漿カルニチン減少 | 貧血 | 運動失調 | 非ケトン性低血糖 | 食思不振 | 高アンモニア血症 | 高尿酸血症 | 黄疸" ] }, { "id": "NANDO:1200899", "label_en": "Acquired von Willebrand disease", "label_ja": "自己免疫性後天性フォンウィルブランド因子欠乏症", "yomigana": "じこめんえきせいこうてんせいふぉんうぃるぶらんどいんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200899", "notificationNumber": "288", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Aortic regurgitation | Aortic valve stenosis | Bruising susceptibility | Epistaxis | Gastrointestinal angiodysplasia | Gastrointestinal hemorrhage | Hematological neoplasm | Hematuria | Hypochromic anemia | Hypotension | Intracranial hemorrhage | Joint hemorrhage | Melena | Menorrhagia | Metrorrhagia | Mitral regurgitation | Normocytic anemia | Persistent bleeding after trauma | Prolonged prothrombin time | Pulmonic stenosis | Reduced factor VIII activity | Reduced von Willebrand factor activity | Refractory anemia | Subcutaneous hemorrhage" ], "symptoms_ja_list": [ "von Willebrand 因子活性の減少 | プロトロンビン時間遷延 | 下血 | 不正子宮出血 | 低色素性貧血 | 低血圧 | 僧帽弁逆流 | 出血傾向 | 外傷後の持続性出血 | 大動脈弁狭窄 | 大動脈逆流 | 循環器系の形態異常 | 月経痛 | 正球性貧血 | 皮下出血 | 第 VIII 因子活性の減少 | 肺動脈狭窄 | 胃腸出血 | 胃腸血管異形成 | 血尿 | 血液学的新生物 | 関節出血 | 難治性貧血 | 頭蓋内出血 | 鼻出血" ] }, { "id": "NANDO:1200344", "label_en": "Common variable immunodeficiency", "label_ja": "分類不能型免疫不全症", "yomigana": "ぶんるいふのうがためんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200344", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201142", "label_en": "DYT 5b Dystonia", "label_ja": "DYT5b ジストニア", "yomigana": "でぃーわいてぃー5びーじすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1201142", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200220", "label_en": "Bethlem Myopathy", "label_ja": "ベスレムミオパチー", "yomigana": "べすれむみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_1200220", "notificationNumber": "31", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of the respiratory system | Achilles tendon contracture | Ankle flexion contracture | Axial muscle weakness | Camptodactyly of finger | Cigarette-paper scars | Curved toe phalanx | Distal muscle weakness | EMG: myopathic abnormalities | Elbow flexion contracture | Elevated circulating creatine kinase activity | Flexion contracture | Foot dorsiflexor weakness | Gait disturbance | Generalized amyotrophy | Gowers sign | Hyperkeratosis | Hypoventilation | Increased muscle lipid content | Interphalangeal joint contracture of finger | Joint hypermobility | Limb-girdle muscle weakness | Lumbar hyperlordosis | Multiple joint contractures | Muscle weakness | Muscular dystrophy | Neck muscle weakness | Progressive proximal muscle weakness | Quadriceps muscle weakness | Reduced maximal expiratory pressure | Rimmed vacuoles | Scapular winging | Scoliosis | Spinal rigidity | Waddling gait | Wrist flexion contracture" ], "symptoms_ja_list": [ "Gowers サイン | よたつき歩行 | アキレス腱拘縮 | タバコ巻紙瘢痕 | 低換気 | 側弯 | 全身性筋萎縮 | 呼吸器の異常 | 多発性関節拘縮 | 大腿四頭筋 筋虚弱 | 屈指 | 屈曲拘縮 | 手関節屈曲拘縮 | 指間(IP)関節拘縮 | 最大呼気圧減少 | 歩行障害 | 湾曲した趾骨 | 筋ジストロフィー | 筋脂質量増加 | 筋虚弱 | 筋電図: ミオパチー異常 | 縁取り空胞 | 翼状肩甲骨 | 肘屈曲拘縮 | 肢帯筋虚弱 | 脊椎強直 | 腰椎前弯 hyperlordosis | 血清 creatine phosphokinase上昇 | 足背屈筋虚弱 | 足関節拘縮 | 軸性筋虚弱 | 進行性近位筋虚弱 | 過角化症 | 遠位筋虚弱 | 関節過動 | 頸部筋虚弱" ] }, { "id": "NANDO:2201368", "label_en": "Craniodiaphyseal dysplasia", "label_ja": "頭蓋骨幹異形成症", "yomigana": "ずがいこっかんいけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201368", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal rib morphology | Coarse facial features | Conductive hearing impairment | Craniofacial hyperostosis | Depressed nasal bridge | Diaphyseal undertubulation | Frontal bossing | Intellectual disability | Macrocephaly | Optic atrophy | Short stature | Stenosis of the external auditory canal | Wide nasal bridge" ], "symptoms_ja_list": [ "伝音難聴 | 低身長 | 前頭突出", "額突出 | 外耳道狭窄 | 大頭 | 幅広い鼻梁 | 知的障害 | 粗な顔貌 | 肋骨の異常 | 落ちくぼんだ鼻梁 | 視神経萎縮 | 頭蓋顔面過骨症 | 骨幹の肥厚" ] }, { "id": "NANDO:2200684", "label_en": "Congenital prekallikrein deficiency", "label_ja": "先天性プレカリクレイン欠乏症", "yomigana": "せんてんせいぷれかりくれいんけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200684", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [ "Abnormal bleeding | Autosomal recessive inheritance | Late onset | Prolonged partial thromboplastin time" ], "symptoms_ja_list": [ "常染色体潜性遺伝 | 異常な出血 | 部分的トロンボプラスチン時間遷延" ] }, { "id": "NANDO:1200443", "label_en": "Atypical autoimmune hepatitis", "label_ja": "自己免疫性肝炎（非典型例）", "yomigana": "じこめんえきせいかんえん（ひてんけいれい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200443", "notificationNumber": "95", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200675", "label_en": "Factor VII deficiency", "label_ja": "第VII因子欠乏症", "yomigana": "だい7いんしけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200675", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201219", "label_en": "Adult Krabbe disease", "label_ja": "成人型クラッベ病", "yomigana": "せいじんがたくらっべびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201219", "notificationNumber": "114", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal corpus callosum morphology | Abnormal corticospinal tract morphology | Abnormal medulla oblongata morphology | Abnormal midbrain morphology | Abnormal pons morphology | Abnormal pyramidal tract morphology | Ataxia | Babinski sign | Broad-based gait | CNS demyelination | Clumsiness | Delayed brainstem auditory evoked response conduction time | Dementia | EEG abnormality | Erectile dysfunction | Frequent falls | Functional motor deficit | Gait disturbance | Hemiplegia | Hyperactive deep tendon reflexes | Impaired tactile sensation | Increased CSF protein concentration | Loss of speech | Lower limb muscle weakness | Mental deterioration | Peripheral demyelination | Peripheral neuropathy | Pes cavus | Progressive neurologic deterioration | Progressive spastic paraparesis | Scoliosis | Sensorimotor neuropathy | Skeletal muscle atrophy | Somatic sensory dysfunction | Spasticity | Tetraparesis | Upper limb muscle weakness | Upper motor neuron dysfunction | Urinary incontinence | Visual loss" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | 上肢筋虚弱 | 下肢筋虚弱 | 不器用 | 中枢神経脱髄 | 中脳形態の異常 | 側弯 | 凹足 | 勃起異常 | 四肢不全麻痺 | 幅広歩行 | 延髄の異常 | 感覚運動ニューロパチー | 感覚障害 | 末梢神経ニューロパチー | 末梢神経脱髄 | 橋の異常 | 機能的筋異常 | 歩行障害 | 深部腱反射亢進 | 片麻痺 | 痙性 | 発語喪失 | 皮質脊髄路の異常 | 皮質脊髄路機能障害 | 知能悪化 | 筋萎縮 | 脳梁の異常 | 脳波異常 | 視力喪失 | 触覚障害 | 進行性痙性対不全麻痺 | 進行性神経学的悪化 | 運動失調 | 遷延性脳幹聴性誘発反応 | 遺尿 | 錐体路の形態異常 | 頻回の転倒 | 髄液タンパクの増加 | 高度/補酵素活性異常" ] }, { "id": "NANDO:1201093", "label_en": "Vitamin D-dependent rickets, type 1B", "label_ja": "ビタミンD依存症 1B型", "yomigana": "びたみんでぃーいぞんしょう1びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201093", "notificationNumber": "239", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Autosomal recessive inheritance | Bone pain | Bowing of the legs | Bulging epiphyses | Bulging of the costochondral junction | Childhood onset | Decreased circulating calcifediol concentration | Deformed rib cage | Delayed epiphyseal ossification | Difficulty standing | Elevated circulating alkaline phosphatase concentration | Enlargement of the ankles | Enlargement of the costochondral junction | Enlargement of the wrists | Failure to thrive | Femoral bowing | Fibular bowing | Flat occiput | Frontal bossing | Gait disturbance | Generalized hypotonia | Growth delay | Hypocalcemia | Hypophosphatemia | Hypotonia | Infantile onset | Metaphyseal irregularity | Muscle weakness | Recurrent fractures | Rickets | Sparse bone trabeculae | Thin bony cortex | Tibial bowing | Widely patent fontanelles and sutures" ], "symptoms_ja_list": [ "くる病 | アルカリホスファターゼ上昇 | 下肢湾曲 | 低カルシウム血症 | 低リン血症 | 全身性筋緊張低下 | 前頭突出", "額突出 | 反復性骨折 | 変形した肋骨胸郭 | 大腿骨湾曲 | 常染色体潜性遺伝 | 平坦な後頭 | 成長遅滞 | 成長障害 (成長不全) | 手関節の拡大 | 歩行障害 | 泉門および縫合開大 | 疎な骨梁 | 突出した骨端 | 筋緊張低下 | 筋虚弱 | 肋軟骨接合部の拡大 | 肋軟骨接合部突出 | 脛骨湾曲 | 腓骨湾曲 | 薄い骨皮質 | 血清 calcifediol (25-hydroxycholecalciferol)低値 | 起立困難 | 足関節の拡大 | 骨幹端不規則性 | 骨痛 | 骨端骨化遅延" ] }, { "id": "NANDO:1200143", "label_en": "Wolman disease", "label_ja": "ウォルマン病", "yomigana": "うぉるまんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200143", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal distention | Acute hepatic failure | Adrenal calcification | Adrenal insufficiency | Anemia | Ascites | Autosomal recessive inheritance | Bone-marrow foam cells | Cachexia | Death in infancy | Esophageal varix | Failure to thrive | Fever | Global developmental delay | Growth delay | Hepatic failure | Hepatomegaly | Infantile onset | Malnutrition | Nausea and vomiting | Splenomegaly | Steatorrhea | Vomiting" ], "symptoms_ja_list": [ "全般性発達遅滞 | 副腎不全 | 副腎石灰化 | 吐気と 嘔吐 | 嘔吐 | 常染色体潜性遺伝 | 急性肝不全 | 悪液質 (カヘキシー) | 成長遅滞 | 成長障害 (成長不全) | 栄養失調 | 発熱 | 肝不全 | 肝腫 | 脂肪便 | 脾腫 | 腹水 | 腹部膨満 | 貧血 | 食道静脈瘤 | 骨髄泡沫細胞" ] }, { "id": "NANDO:2200253", "label_en": "Pulmonary atresia with intact ventricular septum", "label_ja": "心室中隔欠損を伴わない肺動脈閉鎖症", "yomigana": "しんしつちゅうかくけっそんをともなわないはいどうみゃくへいさしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200253", "notificationNumber": "85", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100074", "symptoms_en_list": [ "Abnormal tricuspid valve morphology | Autosomal recessive inheritance | Hypoplastic right ventricle | Maternal diabetes | Patent ductus arteriosus | Premature birth | Pulmonary artery atresia" ], "symptoms_ja_list": [ "三尖弁の異常 | 動脈管開存症 | 右心低形成 | 常染色体潜性遺伝 | 早産 | 母体糖尿病 | 肺動脈閉鎖" ] }, { "id": "NANDO:2200538", "label_en": "Glycogen storage disease type I", "label_ja": "糖原病I型", "yomigana": "とうげんびょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200538", "notificationNumber": "63", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Cognitive impairment | Full cheeks | Hyperlipidemia | Hyperuricemia | Hypoglycemia | Hypotonia | Recurrent infections | Recurrent respiratory infections | Seizure | Short stature | Xanthomatosis" ], "symptoms_ja_list": [ "低血糖 | 低身長 | 反復性呼吸器感染症 | 反復性感染症 | 大きな頬 | 発作 | 筋緊張低下 | 認知障害 | 高尿酸血症 | 高脂血症 | 黄色腫症" ] }, { "id": "NANDO:2100230", "label_en": "Cavernous angioma of the brain and spinal cord", "label_ja": "海綿状血管腫（脳脊髄）", "yomigana": "かいめんじょうけっかんしゅ（のうせきずい）", "url": "http://nanbyodata.jp/ontology/NANDO_2100230", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200587", "label_en": "Adenine phosphoribosyltransferase deficiency", "label_ja": "アデニンホスホリボシルトランスフェラーゼ欠損症", "yomigana": "あでにんほすほりぼしるとらんすふぇらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200587", "notificationNumber": "75", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100168", "symptoms_en_list": [ "Abdominal colic | Abdominal pain | Abnormal circulating enzyme concentration or activity | Acute kidney injury | Atrial fibrillation | Autosomal recessive inheritance | Childhood onset | Chronic kidney disease | Dysuria | Elevated circulating creatinine concentration | Hematuria | Hypertension | Juvenile onset | Kidney stone | Macroscopic hematuria | Metabolic acidosis | Oliguria | Proteinuria | Recurrent urinary tract infections | Renal insufficiency | Stage 5 chronic kidney disease | Uric acid nephrolithiasis | Urinary hesitancy | Urinary retention" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | 乏尿 | 代謝性アシドーシス | 反復性尿路感染症 | 尿酸腎結石 | 尿閉 | 常染色体潜性遺伝 | 心房細動 | 急性腎外傷 | 慢性腎疾患 | 排尿躊躇 | 排尿障害 | 肉眼的血尿 | 腎不全 | 腎結石 | 腹痛 | 腹部疝痛 | 蛋白尿 | 血尿 | 血清クレアチン症状 | 高度/補酵素活性異常 | 高血圧" ] }, { "id": "NANDO:2100001", "label_en": "Malignant neoplasms", "label_ja": "悪性新生物", "yomigana": "あくせいしんせいぶつ", "url": "http://nanbyodata.jp/ontology/NANDO_2100001", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200057", "label_en": "Malignant rhabdoid tumour", "label_ja": "悪性ラブドイド腫瘍", "yomigana": "あくせいらぶどいどしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200057", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abdominal pain | Anemia | Cerebral palsy | Cranial nerve paralysis | Fever | Headache | Hematuria | Hemiplegia | Hypercalcemia | Hypertension | Internal hemorrhage | Irritability | Lymphadenopathy | Nausea and vomiting | Neoplasm of the central nervous system | Neoplasm of the liver | Oculomotor nerve palsy | Poor appetite | Renal neoplasm | Respiratory insufficiency | Sarcoma | Subcutaneous nodule | Thrombocytopenia | Weight loss" ], "symptoms_ja_list": [ "リンパ節腫大 | 中枢神経新生物 | 体重喪失 | 内出血 | 吐気と 嘔吐 | 呼吸不全 | 片麻痺 | 発熱 | 皮下結節 | 眼球運動神経麻痺 | 肉腫 | 肝新生物 | 脳性麻痺 | 脳神経麻痺 | 腎新生物 | 腹痛 | 血小板減少 | 血尿 | 被刺激性 | 貧血 | 頭痛 | 食思不振 | 高カルシウム血症 | 高血圧" ] }, { "id": "NANDO:2201301", "label_en": "SLC6A8 deficiency", "label_ja": "SLC6A8欠損症", "yomigana": "えすえるしー6えー8けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201301", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100226", "symptoms_en_list": [ "Abnormal circulating creatine concentration | Aganglionic megacolon | Aggressive behavior | Ataxia | Athetosis | Attention deficit hyperactivity disorder | Autistic behavior | Axial hypotonia | Broad forehead | Broad-based gait | Cachexia | Chorea | Constipation | Delayed myelination | Delayed speech and language development | Dystonia | Exotropia | Failure to thrive | Feeding difficulties in infancy | Gait disturbance | Global developmental delay | Hyperactivity | Hypermetropia | Hypertonia | Hypoplasia of the corpus callosum | Hypotonia | Ileus | Infantile onset | Intellectual disability | Joint hypermobility | Long face | Malar flattening | Mandibular prognathia | Mask-like facies | Microcephaly | Midface retrusion | Motor delay | Motor stereotypy | Myopathic facies | Narrow face | Neonatal hypotonia | Open mouth | Pes cavus | Poor hand-eye coordination | Prolonged QT interval | Ptosis | Reduced social responsiveness | Redundant skin | Seizure | Self-mutilation | Short stature | Spasticity | Speech apraxia | Tall stature | Underfolded superior helices | Vomiting | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | アテトーゼ | イレウス | クレアチン代謝の異常lism | ジストニア | ミオパチー顔貌 | 下顎突出 | 仮面様顔貌 | 低身長 | 体幹の筋緊張低下 | 便秘 | 全般性発達遅滞 | 凹足 | 嘔吐 | 外斜視 | 多動 | 小頭 | 巻き込み不足の上部耳輪 | 常同行動 | 幅広い額 | 幅広歩行 | 平坦な頬 | 悪液質 (カヘキシー) | 成長障害 (成長不全) | 手-眼協調運動不全 | 攻撃的行動 | 新生児筋緊張低下 | 歩行障害 | 注意力欠陥多動性疾患 | 無神経節性巨大結腸 | 狭い顔 | 痙性 | 発作 | 発語および言語発達遅延 | 発語失行症 | 眼瞼下垂 | 知的障害 | 社会的相互関係障害 | 筋緊張亢進 | 筋緊張低下 | 脳梁低形成 | 自己切断 | 自閉性行動 | 舞踏病 | 運動失調 | 運動発達遅滞 | 過剰な皮膚 | 遠視 | 遷延性 QT 間隔 | 長い顔 | 開口 | 関節過動 | 顔面中部後退 | 食餌摂取障害 in infancy | 髄鞘形成遅延 | 高身長" ] }, { "id": "NANDO:2201379", "label_en": "Non-Herlitz junctional epidermolysis bullosa", "label_ja": "非ヘルリッツ型表皮水疱症", "yomigana": "ひへるりっつがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201379", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [ "Abnormal blistering of the skin | Autosomal recessive inheritance | Camptodactyly of finger | Carious teeth | Congenital onset | Enamel hypoplasia | Fragile nails | Hypodontia | Nail dystrophy | Oral mucosal blisters | Palmar hyperhidrosis | Patchy alopecia | Plantar hyperkeratosis" ], "symptoms_ja_list": [ "口腔粘膜水泡 | 屈指 | 常染色体潜性遺伝 | 手掌多汗症 | 斑状禿頭 | 歯エナメル質低形成 | 減歯症 | 爪ジストロフィー | 異常な皮膚水泡 | 脆い爪 nails | 足底過角化症 | 齲歯" ] }, { "id": "NANDO:1200655", "label_en": "Wilson disease", "label_ja": "ウィルソン病", "yomigana": "うぃるそんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200655", "notificationNumber": "171", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormality of extrapyramidal motor function | Abnormality of the hand | Abnormality of the menstrual cycle | Acute hepatic failure | Acute hepatitis | Aggressive behavior | Aminoaciduria | Anemia | Anxiety | Arthralgia | Arthritis | Ascites | Atypical or prolonged hepatitis | Autosomal recessive inheritance | Back pain | Bone pain | Bruising susceptibility | Childhood onset | Chondrocalcinosis | Chorea | Cirrhosis | Clumsiness | Coma | Decreased circulating ceruloplasmin concentration | Decreased nerve conduction velocity | Dementia | Depression | Drooling | Dysarthria | Dysphagia | Dystonia | Edema | Elevated circulating hepatic transaminase concentration | Esophageal varix | Excessive salivation | Failure to thrive | Focal T2 hyperintense brainstem lesion | Gait disturbance | Glycosuria | Hallucinations | Hand tremor | Hemolytic anemia | Hepatic failure | Hepatic steatosis | Hepatitis | Hepatocellular carcinoma | Hepatomegaly | High nonceruloplasmin-bound serum copper | Hyperbilirubinemia | Hypercalciuria | Hyperphosphaturia | Hypoalbuminemia | Hypokinesia | Hypoparathyroidism | Hyposmia | Hypouricemia | Incoordination | Increased body weight | Increased urinary copper concentration | Infertility | Insomnia | Intellectual disability | Jaundice | Joint hypermobility | Joint swelling | Juvenile onset | Kayser-Fleischer ring | Kidney stone | Limb dystonia | Limb muscle weakness | Mixed demyelinating and axonal polyneuropathy | Osteoarthritis | Osteomalacia | Osteoporosis | Pancreatitis | Parkinsonism with favorable response to dopaminergic medication | Pathologic fracture | Pedal edema | Personality changes | Polyneuropathy | Portal fibrosis | Proteinuria | Proximal lower limb muscle weakness | Pruritus | Psychosis | Renal tubular dysfunction | Rigidity | Seizure | Splenomegaly | Thrombocytopenia | Tremor | Vomiting | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "Dementia | Kayser-Fleischer 環 | うつ | アミノ酸尿 | ジストニア | ドパミン製剤によく反応するパーキンソン症候群 | ポリニューロパチー | 下肢の近位筋虚弱 | 不器用 | 不妊 | 不安 | 不眠 | 低尿酸血症 | 体重喪失 | 体重増加 | 出血傾向 | 副甲状腺機能低下症 | 協調運動障害 | 嗅覚減退 | 嘔吐 | 嚥下障害 | 四肢ジストニア | 四肢筋虚弱 | 尿中銅濃度増加 | 尿糖 | 巣状 T2 高輝度脳幹病変 | 常染色体潜性遺伝 | 幻覚 | 急性肝不全 | 急性肝炎 | 性格変化 | 成長障害 (成長不全) | 手の異常 | 手振戦 | 振戦 | 掻痒 | 攻撃的行動 | 昏睡 | 月経周期異常 | 構音障害 | 歩行障害 | 流涎 | 浮腫 | 浮腫 (下肢) | 混合性脱髄性および軸索ポリニューロパチー | 溶血性貧血 | 病的骨折 | 発作 | 知的障害 | 硬直 | 神経活動電位の振幅減少 | 精神病 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝炎 | 肝硬変 | 肝細胞癌 | 肝腫 | 背部痛 | 脂肪肝 | 脾腫 | 腎尿細管機能障害 | 腎結石 | 腹水 | 腹痛 | 腹部膨満 | 膵炎 | 舞踏病 | 蛋白尿 | 血小板減少 | 血清セルロプラスミン減少 | 誇張された唾液分泌 | 貧血 | 軟骨石灰化症 | 運動減少 | 錐体外路運動機能の異常 | 門脈線維症 | 関節炎 | 関節痛 | 関節腫脹 | 関節過動 | 非セルロプラスミン結合性血清銅高値 | 非典型的または遷延性肝炎 | 食道静脈瘤 | 骨痛 | 骨粗鬆症 | 骨軟化症 | 骨関節炎 | 高アルブミン血症 | 高カルシウム尿 | 高ビリルビン血症 | 高リン尿 | 黄疸" ] }, { "id": "NANDO:2200297", "label_en": "Other arteriovenous fistulae", "label_ja": "82及び83に掲げるもののほか、動静脈瘻", "yomigana": "82および83にかかげるもののほか、どうじょうみゃくろう", "url": "http://nanbyodata.jp/ontology/NANDO_2200297", "notificationNumber": "71", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100102", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100237", "label_en": "Progressive myoclonus epilepsy", "label_ja": "進行性ミオクローヌスてんかん", "yomigana": "しんこうせいみおくろーぬすてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100237", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201013", "label_en": "Osteopetrosis", "label_ja": "大理石骨病", "yomigana": "だいりせきこつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201013", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200526", "label_en": "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "label_ja": "小脳失調症深部反射消失凹足視神経萎縮感覚神経障害性聴覚障害", "yomigana": "しょうのうしっちょうしょうしんぶはんしゃしょうしつおうそくししんけいいしゅくかんかくしんけいしょうがいせいちょうかくしょうがい", "url": "http://nanbyodata.jp/ontology/NANDO_1200526", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of eye movement | Areflexia | Ataxia | Autistic behavior | Autosomal dominant inheritance | Blindness | Bradykinesia | Childhood onset | Cognitive impairment | Dysarthria | Dysmetria | Dysphagia | Dystonia | Encephalopathy | Episodic ataxia | Episodic generalized hypotonia | Gait ataxia | Hearing impairment | Hemiparesis | Hypotonia | Incoordination | Infantile onset | Juvenile onset | Muscle weakness | Nystagmus | Optic atrophy | Peripheral axonal neuropathy | Pes cavus | Postural instability | Progressive sensorineural hearing impairment | Progressive visual loss | Reduced consciousness | Seizure | Sensorineural hearing impairment | Truncal ataxia | Undetectable visual evoked potentials | Urinary urgency | Visual impairment | Visual loss | Wolff-Parkinson-White syndrome" ], "symptoms_ja_list": [ "Wolff-Parkinson-White 症候群 | ジストニア | 体幹失調 | 全身性筋緊張低下エピソード | 凹足 | 協調運動障害 | 嚥下障害 | 姿勢不安定 | 尿意切迫 | 常染色体顕性遺伝 | 意識減少/混乱 | 感音難聴 | 末梢神経軸索ニューロパチー | 構音障害 | 歩行失調 | 測定障害 | 無反射 | 片側不全麻痺 | 発作 | 盲 | 眼振 | 眼運動の異常 | 筋緊張低下 | 筋虚弱 | 脳症 | 自閉性行動 | 視力喪失 | 視力障害 | 視神経萎縮 | 視覚誘発電位欠損 | 認知障害 | 進行性感音難聴 | 進行性視力喪失 | 運動失調 | 運動失調エピソード | 運動緩徐 | 難聴" ] }, { "id": "NANDO:1200199", "label_en": "Slowly progressive subacute sclerosing panencephalitis", "label_ja": "緩徐進行型亜急性硬化性全脳炎", "yomigana": "かんじょしんこうがたあきゅうせいこうかせいぜんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200199", "notificationNumber": "24", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200471", "label_en": "Hyperprolinemia", "label_ja": "高プロリン血症", "yomigana": "こうぷろりんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200471", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200983", "label_en": "VATER syndrome", "label_ja": "VATER症候群", "yomigana": "ばーたーしょうこうぐん／ふぁーたーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200983", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiac septum morphology | Abnormal cardiovascular system morphology | Abnormal intervertebral disk morphology | Abnormal morphology of female internal genitalia | Abnormal nasopharynx morphology | Abnormal rib morphology | Abnormal sacrum morphology | Abnormal sternum morphology | Abnormal vertebral morphology | Abnormality of the gallbladder | Abnormality of the pancreas | Abnormality of the urethra | Absent radius | Ambiguous genitalia | Anal atresia | Anencephaly | Anorectal anomaly | Aplasia/Hypoplasia of the lungs | Aplasia/Hypoplasia of the radius | Bifid scrotum | Cavernous hemangioma | Choanal atresia | Cleft palate | Congenital diaphragmatic hernia | Cryptorchidism | Ectopic kidney | Esophageal atresia | Failure to thrive | Finger syndactyly | Hydronephrosis | Hypoplasia of penis | Hypoplasia of the radius | Hypospadias | Intrauterine growth retardation | Large fontanelles | Laryngeal stenosis | Laryngomalacia | Multicystic kidney dysplasia | Non-midline cleft of the upper lip | Occipital encephalocele | Omphalocele | Patent ductus arteriosus | Patent urachus | Polyhydramnios | Posteriorly rotated ears | Postnatal growth retardation | Preaxial hand polydactyly | Preaxial polydactyly | Premature birth | Radioulnar synostosis | Renal agenesis | Renal dysplasia | Scoliosis | Short thumb | Single umbilical artery | Spina bifida | Sporadic | Syndactyly | Tethered cord | Tetralogy of Fallot | Tracheal stenosis | Tracheoesophageal fistula | Transposition of the great arteries | Triphalangeal thumb | Ureteropelvic junction obstruction | Ventricular septal defect | Vertebral segmentation defect | Vesicoureteral reflux" ], "symptoms_ja_list": [ "Fallot 四徴症 | 三指節母指 | 二分脊椎 | 二分陰嚢 | 仙骨の異常 | 係留脊髄 | 停留精巣 | 側弯 | 先天性横隔膜ヘルニア | 動脈管開存症 | 単一臍帯動脈 | 口蓋裂 | 合指症 | 合指趾症 | 喉頭狭窄 | 喉頭軟化症 | 多嚢胞腎異形成 | 大きな泉門 | 大血管転位 | 女性内性器異常 | 子宮内成長遅滞 | 孤発性 | 尿管腎盂接合部閉塞 | 尿膜管開存 | 尿道下裂 | 尿道異常 | 後頭脳瘤 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心中隔 | 心室中隔欠損 | 性別不明の外性器 | 成長障害 (成長不全) | 早産 | 椎間板の異常 | 橈尺骨癒合 | 橈骨低形成 | 橈骨欠損 | 橈骨無形成/低形成 | 気管狭窄 | 気管食道瘻 | 水腎症 | 海綿状血管腫 | 無脳症 | 生後の成長遅滞 | 異所性腎 | 短い母指 | 羊水過多 | 耳介後方回転 | 肋骨の異常 | 肛門直腸奇形 | 肺無形成/低形成 | 胆嚢の異常 | 胸骨の異常 | 脊椎の異常 | 脊椎分節異常 | 腎無発生 | 腎異形成 | 膀胱尿管逆流 | 膵の異常 | 臍帯ヘルニア | 軸前性多指症 | 軸前性多指趾症 | 鎖肛 | 陰茎低形成 | 非正中口唇裂 | 食道閉鎖 | 鼻咽頭の異常" ] }, { "id": "NANDO:1200504", "label_en": "Hereditary hyperkalemic periodic paralysis", "label_ja": "遺伝性高カリウム性周期性四肢麻痺", "yomigana": "いでんせいこうかりうむせいしゅうきせいししまひ", "url": "http://nanbyodata.jp/ontology/NANDO_1200504", "notificationNumber": "115", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Arrhythmia | Autosomal dominant inheritance | Bowel incontinence | Cerebral palsy | Chest pain | Congestive heart failure | Death in early adulthood | Death in infancy | Diminished deep tendon reflex | EMG abnormality | Elevated circulating creatine kinase activity | Episodic flaccid weakness | Fasciculations | Feeding difficulties in infancy | Flexion contracture | Gait disturbance | Hyperkalemia | Hypertonia | Hypokalemia | Hyponatremia | Infantile onset | Malignant hyperthermia | Myalgia | Myopathy | Myotonia | Ophthalmoparesis | Paresthesia | Periodic hyperkalemic paralysis | Respiratory insufficiency | Skeletal muscle atrophy | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "うっ血性心不全 | ミオトニア | ミオパチー | 不整脈 | 低カリウム血症 | 低ナトリウム血症 | 共通 | 周期性高カルシウム血症性麻痺 | 呼吸不全 | 屈曲拘縮 | 常染色体顕性遺伝 | 弛緩性虚弱エピソード | 悪性高体温症 | 感覚異常 | 歩行障害 | 眼筋不全麻痺 | 筋痛 | 筋緊張亢進 | 筋肥大 | 筋萎縮 | 筋電図異常 | 線維束性収縮 | 脳性麻痺 | 腱反射減少 | 血清 creatine phosphokinase上昇 | 遺糞症 | 食餌摂取障害 in infancy | 高カリウム血症" ] }, { "id": "NANDO:2200257", "label_en": "Double-outlet left ventricle", "label_ja": "両大血管左室起始症", "yomigana": "りょうだいけっかんさしつきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200257", "notificationNumber": "99", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100077", "symptoms_en_list": [ "Abnormal coronary artery course | Bicuspid pulmonary valve | Cardiomegaly | Cryptorchidism | Cyanosis | Double outlet left ventricle | Failure to thrive | Hypertelorism | Orofacial cleft | Patent ductus arteriosus | Pulmonary artery stenosis | Pulmonary valve atresia | Tachypnea | Tricuspid atresia | Ventricular septal defect" ], "symptoms_ja_list": [ "チアノーゼ | 三尖弁閉鎖 | 両大血管左室起始症 | 両眼隔離 | 二弁性肺動脈弁 | 停留精巣 | 動脈管開存症 | 口腔裂 | 多呼吸 | 心室中隔欠損 | 心拡大 | 成長障害 (成長不全) | 異常な冠状動脈経路 | 肺動脈弁閉鎖 | 肺動脈狭窄" ] }, { "id": "NANDO:2200804", "label_en": "Primary CD59 deficiency", "label_ja": "CD59欠損症", "yomigana": "しーでぃー59けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200804", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Areflexia | Autosomal recessive inheritance | Generalized hypotonia | Hemolytic anemia | Hypotonia | Increased CSF protein concentration | Infantile onset | Limb muscle weakness | Paralysis | Paroxysmal nocturnal hemoglobinuria | Polyneuropathy | Skeletal muscle atrophy" ], "symptoms_ja_list": [ "ポリニューロパチー | 全身性筋緊張低下 | 四肢筋虚弱 | 常染色体潜性遺伝 | 溶血性貧血 | 無反射 | 発作性夜間ヘモグロビン尿 | 筋緊張低下 | 筋萎縮 | 髄液タンパクの増加 | 麻痺" ] }, { "id": "NANDO:2200010", "label_en": "Acute erythremia", "label_ja": "急性赤白血病", "yomigana": "きゅうせいせきはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200010", "notificationNumber": "73", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [ "Anemia | Bone marrow hypocellularity | Decreased total leukocyte count | Erythroid hypoplasia | Monoclonal elevation of circulating IgM concentration | Pancytopenia | Refractory anemia with ringed sideroblasts" ], "symptoms_ja_list": [ "Waldenstrom マクログロブリン血症 | 汎血球減少症 | 環状鉄芽球を伴う難治性貧血 | 白血球減少症 | 貧血 | 赤芽球系低形成 | 骨髄細胞数増多" ] }, { "id": "NANDO:2200586", "label_en": "Lesch-Nyhan syndrome", "label_ja": "ヒポキサンチングアニンホスホリボシルトランスフェラーゼ欠損症", "yomigana": "ひぽきさんちんぐあにんほすほりぼしるとらんすふぇらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200586", "notificationNumber": "79", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100168", "symptoms_en_list": [ "Abnormality of extrapyramidal motor function | Abnormality of movement | Anemia | Atypical behavior | Childhood onset | Choreoathetosis | Dysarthria | Dysphagia | Dystonia | Global developmental delay | Gout | Hematuria | Hemiplegia/hemiparesis | Hip dislocation | Hyperreflexia | Hyperuricemia | Hyperuricosuria | Hypotonia | Infantile onset | Intellectual disability | Juvenile onset | Kidney stone | Megaloblastic anemia | Mild intellectual disability | Moderate intellectual disability | Motor delay | Nephrocalcinosis | Opisthotonus | Podagra | Poor head control | Renal insufficiency | Seizure | Self-injurious behavior | Short stature | Spasticity | Testicular atrophy | Vomiting | X-linked recessive inheritance | Young adult onset" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | ジストニア | 低身長 | 全般性発達遅滞 | 反射亢進 | 嘔吐 | 嚥下障害 | 巨赤芽球性貧血 | 後弓反張 | 構音障害 | 片麻痺/片側不全麻痺 | 痙性 | 発作 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "軽度 | 筋緊張低下 | 精巣萎縮 | 股関節脱臼 | 腎不全 | 腎石灰化症 | 腎結石 | 自傷行動 | 舞踏病アテトーゼ | 血尿 | 行動異常 | 貧血 | 通風 | 通風 (足) | 運動の異常 | 運動発達遅滞 | 錐体外路運動機能の異常 | 頸定不全 | 高尿酸尿 | 高尿酸血症" ] }, { "id": "NANDO:2200640", "label_en": "Shiga toxin-producing escherichia coli hemolytic uremic syndrome", "label_ja": "志賀毒素産生腸管出血性病原大腸菌による溶血性尿毒症症候群", "yomigana": "しがどくそさんせいちょうかんしゅっけつせいびょうげんだいちょうきんによるようけつせいにょうどくしょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200640", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100185", "symptoms_en_list": [ "Abdominal pain | Abnormality of the nervous system | Acute colitis | Acute kidney injury | Anuria | Colonic stenosis | Coma | Dehydration | Diarrhea | Dysfunctional alternative complement pathway | Elevated circulating creatinine concentration | Excessive daytime somnolence | Hemoglobinuria | Hypertension | Hypokalemia | Hyponatremia | Increased total leukocyte count | Intussusception | Irritability | Microangiopathic hemolytic anemia | Myocardial infarction | Pancreatitis | Peritonitis | Rectal prolapse | Reticulocytosis | Schistocytosis | Seizure | Thrombocytopenia | Unconjugated hyperbilirubinemia | Vomiting" ], "symptoms_ja_list": [ "ヘモグロビン尿 | 下痢 | 不抱合型高ビリルビン血症 | 低カリウム血症 | 低ナトリウム血症 | 分裂赤血球増加症 | 副補体経路機能障害 | 嗜眠 | 嘔吐 | 微小血管症性溶血性貧血 | 心筋梗塞 | 急性結腸炎 | 急性腎外傷 | 昏睡 | 無尿 | 発作 | 白血球増多症 | 直腸逸脱 | 神経系の異常 | 結腸狭窄 | 網状赤血球増多症 | 脱水 | 腸重積 | 腹痛 | 腹膜炎 | 膵炎 | 血小板減少 | 血清クレアチン症状 | 被刺激性 | 高血圧" ] }, { "id": "NANDO:2200262", "label_en": "Aorto-pulmonary window", "label_ja": "大動脈肺動脈窓", "yomigana": "だいどうみゃくはいどうみゃくそう", "url": "http://nanbyodata.jp/ontology/NANDO_2200262", "notificationNumber": "63", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100082", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200043", "label_en": "Wilms tumour", "label_ja": "ウィルムス腫瘍／腎芽腫", "yomigana": "うぃるむすしゅよう／じんがしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200043", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abdominal pain | Anemia | Aniridia | Cryptorchidism | Duplication of renal pelvis | Dyspnea | Ectopic kidney | Fever | Hemihypertrophy | Horseshoe kidney | Hypercalcemia | Hypertension | Hypospadias | Lymphadenopathy | Macroscopic hematuria | Microscopic hematuria | Neoplasm | Neoplasm of the liver | Neoplasm of the lung | Nephroblastoma | Polycythemia | Reduced von Willebrand factor activity | Varicocele | Weight loss" ], "symptoms_ja_list": [ "von Willebrand 因子活性の減少 | リンパ節腫大 | 体重喪失 | 停留精巣 | 呼吸困難 | 多血症 | 尿道下裂 | 新生物 | 無虹彩症 | 片側肥大 | 異所性腎 | 発熱 | 精索静脈瘤 | 肉眼的血尿 | 肝新生物 | 肺新生物 | 腎盂重複 | 腎芽腫 (Wilms 腫瘍) | 腹痛 | 貧血 | 顕微血尿 | 馬蹄腎 | 高カルシウム血症 | 高血圧" ] }, { "id": "NANDO:1200095", "label_en": "Scheie disease", "label_ja": "シェイエ病", "yomigana": "しゃいえびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200095", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of the skeletal system | Aortic regurgitation | Aortic valve stenosis | Autosomal recessive inheritance | Broad face | Cerebral palsy | Cervical cord compression | Coarse facial features | Constrictive median neuropathy | Corneal opacity | Depressed nasal bridge | Dysostosis multiplex | Everted lower lip vermilion | Full cheeks | Genu valgum | Glaucoma | Hepatomegaly | Intellectual disability | Joint stiffness | Limitation of joint mobility | Mandibular prognathia | Mitral stenosis | Mucopolysacchariduria | Obstructive sleep apnea | Pes cavus | Retinal degeneration | Rhinitis | Sensorineural hearing impairment | Short neck | Spastic paraparesis | Splenomegaly | Spondylolisthesis | Thick vermilion border | Wide mouth | Wide nose" ], "symptoms_ja_list": [ "ムコ多糖症 | 下口唇唇紅部外反 | 下顎突出 | 僧帽弁狭窄 | 凹足 | 分厚い唇紅部縁 | 収縮性正中神経ニューロパチー | 外反膝 | 多発性異骨症 | 大きな頬 | 大動脈弁狭窄 | 大動脈逆流 | 常染色体潜性遺伝 | 幅広い口 | 幅広い顔 | 幅広い鼻 | 感音難聴 | 痙性対不全麻痺 | 知的障害 | 短い頸部 | 粗な顔貌 | 網膜変性 | 緑内障 | 肝腫 | 脊椎すべり症 | 脳性麻痺 | 脾腫 | 落ちくぼんだ鼻梁 | 角膜混濁 | 閉塞性睡眠時無呼吸 | 関節拘縮 | 関節運動制限 | 頚髄圧迫 | 骨格の異常 | 鼻炎" ] }, { "id": "NANDO:2201240", "label_en": "Congenital neuronal ceroid lipofuscinosis", "label_ja": "先天型神経セロイドリポフスチン症", "yomigana": "せんてんがたしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201240", "notificationNumber": "121", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100115", "label_en": "Hyperprolactinemia", "label_ja": "高プロラクチン血症", "yomigana": "こうぷろらくちんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100115", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200954", "label_en": "Smith-Magenis syndrome", "label_ja": "スミス・マギニス症候群", "yomigana": "すみす・まぎにすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200954", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal forearm morphology | Abnormal heart morphology | Abnormal localization of kidney | Abnormal middle ear morphology | Abnormal pineal melatonin secretion | Abnormal renal morphology | Abnormal speech pattern | Abnormal tracheobronchial morphology | Abnormality of the dentition | Abnormality of the eye | Abnormality of the genitourinary system | Abnormality of the immune system | Abnormality of the larynx | Abnormality of the outer ear | Abnormality of the thyroid gland | Abnormality of the ureter | Abnormality of the urinary system | Anteverted nares | Anxiety | Aplasia/Hypoplasia of the corpus callosum | Areflexia | Arrhythmia | Attention deficit hyperactivity disorder | Atypical behavior | Autosomal dominant inheritance | Brachycephaly | Brachydactyly | Broad face | Broad forehead | Broad palm | Chronic otitis media | Cleft palate | Cleft upper lip | Clinodactyly of the 5th finger | Coarse facial features | Cognitive impairment | Conductive hearing impairment | Constipation | Decreased circulating IgA concentration | Decreased fetal movement | Deeply set eye | Delayed eruption of primary teeth | Delayed puberty | Delayed speech and language development | Depressed nasal bridge | Downturned corners of mouth | EEG abnormality | Everted upper lip vermilion | Failure to thrive | Failure to thrive in infancy | Feeding difficulties in infancy | Frontal bossing | Gait disturbance | Gastroesophageal reflux | Generalized hypotonia | Generalized non-motor (absence) seizure | Global developmental delay | Hand polydactyly | Head-banging | Hearing impairment | Hoarse voice | Hyperactivity | Hyperacusis | Hypercholesterolemia | Hypertelorism | Hypertriglyceridemia | Hyporeflexia | Hypothyroidism | Hypotonia | Impaired pain sensation | Impulsivity | Increased body weight | Intellectual disability | Joint stiffness | Large face | Malar flattening | Mandibular prognathia | Microcephaly | Microcornea | Micrognathia | Midface retrusion | Mild global developmental delay | Motor delay | Motor stereotypy | Myopia | Neonatal onset | Obesity | Open mouth | Orofacial cleft | Pain insensitivity | Peripheral neuropathy | Pes planus | Precocious puberty | Prominent forehead | Recurrent otitis media | Recurrent upper respiratory tract infections | Renal hypoplasia/aplasia | Retinal detachment | Scoliosis | Seizure | Self-injurious behavior | Self-mutilation | Short middle phalanx of the 5th finger | Short nose | Short palm | Short philtrum | Short stature | Sleep apnea | Sleep disturbance | Sleep-wake cycle disturbance | Spontaneous pneumothorax | Sporadic | Square face | Strabismus | Synophrys | Taurodontia | Tented upper lip vermilion | Toe syndactyly | Truncal obesity | Upslanted palpebral fissure | Velopharyngeal insufficiency | Ventriculomegaly | Wide nasal bridge" ], "symptoms_ja_list": [ "IgA欠乏症 | テント状上口唇唇紅部 | 上口唇唇紅部外反 | 上口唇裂 | 上向きの鼻孔 | 下顎突出 | 不安 | 不整脈 | 両眼隔離 | 中耳の形態異常 | 乳児期の成長障害 (成長不全) | 乳歯萠出遅延 | 伝音難聴 | 低身長 | 体幹肥満 | 体重増加 | 便秘 | 側弯 | 免疫系の異常 | 全般性発達遅滞 | 全身性筋緊張低下 | 前腕の異常 | 前頭突出", "額突出 | 反射低下 | 反復性上気道感染症 | 反復性中耳炎 | 口腔裂 | 口蓋帆咽頭不全 | 口蓋裂 | 口角下垂 | 合趾症 | 喉頭の異常 | 嗄声 | 四角い顔 | 外耳の異常 | 多動 | 多指症 | 大きな顔 | 孤発性 | 小角膜 | 小頭 | 小顎 | 尿管異常 | 尿路異常 | 常同行動 | 常染色体顕性遺伝 | 幅広い手掌 | 幅広い額 | 幅広い顔 | 幅広い鼻梁 | 平坦な頬 | 循環器系の形態異常 | 心形態の異常 | 思春期早発 | 思春期遅発 | 慢性中耳炎 | 成長障害 (成長不全) | 扁平足 | 斜視 | 末梢神経ニューロパチー | 欠神発作 | 歩行障害 | 歯の異常 | 気管気管支の異常 | 泌尿生殖器異常 | 注意力欠陥多動性疾患 | 無反射 | 牛歯 | 甲状腺機能低下症 | 甲状腺異常 | 異常な松果体メラトニン分泌 | 疼痛不応性 | 痛覚障害 | 発作 | 発語および言語発達遅延 | 目立つ額 | 眼の異常 | 眼瞼裂斜上 | 睡眠-覚醒周期障害 | 睡眠時無呼吸 | 睡眠障害 | 知的障害 | 短い人中 | 短い手掌 | 短い第5指中節骨 | 短い鼻 | 短指症候群 | 短頭 | 神経学的発語障害 | 第5指弯指 | 筋緊張低下 | 粗な顔貌 | 網膜剥離 | 聴覚過敏 | 肥満 | 胃食道逆流 | 胎動減少 | 脳室拡大 | 脳梁無形成/低形成 | 脳波異常 | 腎位置異常 | 腎低形成/無形成 | 腎形態異常 | 自傷行動 | 自己切断 | 自然気胸 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 行動異常 | 衝動性 | 認知障害 | 軽度の全般性発達遅滞 | 近視 | 連続眉毛 | 運動発達遅滞 | 開口 | 関節拘縮 | 難聴 | 頭部強打 | 顔面中部後退 | 食餌摂取障害 in infancy | 高コレステロール血症 | 高トリグリセリド血症" ] }, { "id": "NANDO:1200878", "label_en": "Lymphangiomatosis / Gorham-Stout disease", "label_ja": "リンパ管腫症/ゴーハム病", "yomigana": "りんぱかんしゅしょう／ごーはむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200878", "notificationNumber": "277", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal bone ossification | Abnormal calvaria morphology | Abnormal facial skeleton morphology | Abnormal femur morphology | Abnormal finger morphology | Abnormal occipital bone morphology | Abnormality of the cervical spine | Abnormality of the internal auditory canal | Abnormality of the skeletal system | Abnormality of the temporomandibular joint | Autosomal dominant inheritance | Bone pain | Chiari type I malformation | Cortical irregularity | Cystic angiomatosis of bone | Edema | Elevated alkaline phosphatase of bone origin | Functional motor deficit | Hearing impairment | Hemangiomatosis | Impaired mastication | Lymphangioma | Mandibular pain | Mastoiditis | Meningitis | Osteolysis | Osteolysis involving bones of the lower limbs | Osteomyelitis | Osteopenia | Patchy reduction of bone mineral density | Pathologic fracture | Pleural effusion | Spinal cord compression | Torticollis" ], "symptoms_ja_list": [ "I 型Arnold-Chiari 奇形 | リンパ管腫 | 下顎痛 | 不規則な皮質 | 乳様突起炎 | 側頭下顎関節の異常 | 内耳道の異常 | 咀嚼こんな | 大腿骨の異常 | 常染色体顕性遺伝 | 後頭骨の異常 | 指の異常 | 斜頚 | 機能的筋異常 | 浮腫 | 病的骨折 | 胸膜滲出液 | 脊髄圧迫 | 血管腫症 | 難聴 | 頚椎の異常 | 頭蓋冠の異常 | 顔面骨格異常 | 骨の嚢胞性血管腫症 | 骨の骨化異常 | 骨ミネラル濃度の斑状減少 | 骨格の異常 | 骨減少症 | 骨由来アルカリホスファターゼ上昇 | 骨痛 | 骨融解 | 骨融解 (下肢の骨) | 骨髄炎 | 髄膜炎" ] }, { "id": "NANDO:2200497", "label_en": "3-hydroxy-3-methylglutaric acidemia", "label_ja": "3-ヒドロキシ-3-メチルグルタル酸血症", "yomigana": "3ひどろきし3めちるぐるたるさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200497", "notificationNumber": "102", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "3-Methylglutaric aciduria | Abnormal cerebral white matter morphology | Acute pancreatitis | Anemia | Anorexia | Apathy | Apnea | Ataxia | Autosomal recessive inheritance | Cardiac arrest | Coma | Death in childhood | Decreased circulating carnitine concentration | Decreased total leukocyte count | Dehydration | Diarrhea | Dilated cardiomyopathy | Drowsiness | Dysarthria | EEG abnormality | Edema | Elevated circulating hepatic transaminase concentration | Encephalopathy | Episodic vomiting | Excessive daytime somnolence | Fatigue | Fever | Global developmental delay | Glutaric aciduria | Hepatomegaly | Hyperammonemia | Hyperuricemia | Hypoglycemia | Hypoglycemic coma | Hyporeflexia | Hypotension | Hypothermia | Hypotonia | Hypsarrhythmia | Increased circulating lactate concentration | Increased total leukocyte count | Jaundice | Ketonuria | Lethargy | Leukoencephalopathy | Lipid accumulation in hepatocytes | Metabolic acidosis | Microcephaly | Mild intellectual disability | Moderate intellectual disability | Myoclonus | Nonketotic hypoglycemia | Organic aciduria | Pallor | Prolonged prothrombin time | Recurrent hypoglycemia | Reye syndrome-like episodes | Seizure | Severe intellectual disability | Spastic hemiparesis | Spasticity | Tachypnea | Thrombocytosis | Weight loss" ], "symptoms_ja_list": [ "3-メチルグルタル酸尿症 | Reye 症様エピソード | グルタル酸尿 | ケトン尿 | ヒプスアリスミア | プロトロンビン時間遷延 | ミオクローヌス | 下痢 | 代謝性アシドーシス | 低体温 | 低血圧 | 低血糖 | 低血糖性昏睡 | 体重喪失 | 全般性発達遅滞 | 反射低下 | 反復性低血糖 | 嗜眠 | 嘔吐エピソード | 多呼吸 | 大脳白質の異常 | 小頭 | 常染色体潜性遺伝 | 心停止 | 急性膵炎 | 拡張型心筋症 | 昏睡 | 有機酸尿 | 構音障害 | 浮腫 | 無呼吸 | 無気力 | 無関心", "感情鈍磨 | 疲労 | 痙性 | 痙性片麻痺 | 発作 | 発熱 | 白血球増多症 | 白血球減少症 | 白質脳症 | 眠気 | 知的障害", "中道動脈瘤 | 知的障害", "軽度 | 知的障害", "重度 | 筋緊張低下 | 肝トランスアミナーゼ上昇 | 肝細胞の脂質蓄積 | 肝腫 | 脱水 | 脳波異常 | 脳症 | 蒼白 | 血小板増多症 | 血清乳酸増加 | 血漿カルニチン減少 | 貧血 | 運動失調 | 非ケトン性低血糖 | 食思不振 | 高アンモニア血症 | 高尿酸血症 | 黄疸" ] }, { "id": "NANDO:2100243", "label_en": "congenital infections", "label_ja": "先天性感染症", "yomigana": "せんてんせいかんせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100243", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200531", "label_en": "Hereditary fructose intolerance", "label_ja": "遺伝性フルクトース不耐症", "yomigana": "いでんせいふるくとーすふたいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200531", "notificationNumber": "57", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormality of the coagulation cascade | Autosomal recessive inheritance | Bicarbonaturia | Cataract | Chronic hepatic failure | Chronic kidney disease | Cirrhosis | Coma | Constipation | Diarrhea | Elevated circulating hepatic transaminase concentration | Episodic hyperhidrosis | Failure to thrive | Fructose intolerance | Gastrointestinal hemorrhage | Glycosuria | Growth delay | Hepatic steatosis | Hepatomegaly | Hyperbilirubinemia | Hypermagnesemia | Hyperphosphaturia | Hyperuricemia | Hyperuricosuria | Hypoglycemia | Hypophosphatemia | Intellectual disability | Jaundice | Lactic acidosis | Lethargy | Malnutrition | Metabolic acidosis | Nausea | Proximal renal tubular acidosis | Proximal tubulopathy | Reactive hypoglycemia | Reduced circulating aldolase concentration | Renal insufficiency | Seizure | Transient aminoaciduria | Vomiting" ], "symptoms_ja_list": [ "アルドラーゼ減少 | 一過性アミノ酸尿 | 下痢 | 乳酸性アシドーシス | 代謝性アシドーシス | 低リン血症 | 低血糖 | 便秘 | 凝固カスケードの異常 | 反応性低血糖 | 吐気 | 嘔吐 | 多汗エピソード | 尿糖 | 常染色体潜性遺伝 | 慢性肝不全 | 慢性腎疾患 | 成長遅滞 | 成長障害 (成長不全) | 昏睡 | 果糖不耐性 | 栄養失調 | 無気力 | 発作 | 白内障 | 知的障害 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝腫 | 胃腸出血 | 脂肪肝 | 腎不全 | 腹痛 | 腹部膨満 | 近位腎尿細管アシドーシス | 近位腎尿細管症 | 重炭酸尿 | 高ビリルビン血症 | 高マグネシウム血症 | 高リン尿 | 高尿酸尿 | 高尿酸血症 | 黄疸" ] }, { "id": "NANDO:1200291", "label_en": "Dilated phase of hypertrophic cardiomyopathy", "label_ja": "拡張相肥大型心筋症", "yomigana": "かくちょうそうひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200291", "notificationNumber": "58", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200659", "label_en": "Other platelet dysfunction", "label_ja": "32から34までに掲げるもののほか、血小板機能異常症", "yomigana": "32から34までにかかげるもののほか、けっしょうばんきのういじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200659", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200721", "label_en": "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells", "label_ja": "特異抗体産生不全症", "yomigana": "とくいこうたいさんせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200721", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100205", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200411", "label_en": "Prader-Willi syndrome", "label_ja": "プラダー・ウィリ症候群", "yomigana": "ぷらだー・うぃりしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200411", "notificationNumber": "91", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100150", "symptoms_en_list": [ "Abdominal obesity | Abnormal cerebral white matter morphology | Abnormal facial shape | Abnormal rapid eye movement sleep | Abnormality of the dentition | Accelerated skeletal maturation | Adrenal insufficiency | Adrenocorticotropic hormone deficiency | Almond-shaped palpebral fissure | Anxiety | Attention deficit hyperactivity disorder | Atypical behavior | Autism | Autistic behavior | Autosomal dominant inheritance | Borderline intellectual disability | Breech presentation | Carious teeth | Central adrenal insufficiency | Central hypothyroidism | Central sleep apnea | Chronic constipation | Clitoral hypoplasia | Congenital onset | Cryptorchidism | Cutaneous photosensitivity | Decreased circulating HDL-C concentration | Decreased fetal movement | Decreased muscle mass | Decreased response to growth hormone stimulation test | Decreased testicular size | Delayed puberty | Delayed speech and language development | Dental crowding | Dolichocephaly | Downturned corners of mouth | Dysphagia | Edema | Enamel hypoplasia | Erysipelas | Esotropia | Excessive daytime somnolence | External genital hypoplasia | Failure to thrive | Failure to thrive in infancy | Feeding difficulties in infancy | Fetal onset | Frontal upsweep of hair | Gastroesophageal reflux | Gastroparesis | Generalized hypopigmentation | Generalized hypotonia | Genu valgum | Global developmental delay | Growth delay | Hip dysplasia | Hypercholesterolemia | Hyperinsulinemia | Hypermetropia | Hypernasal speech | Hypertension | Hypertriglyceridemia | Hypogonadism | Hypogonadotropic hypogonadism | Hypopigmentation of hair | Hypopigmentation of the skin | Hypoplastic labia majora | Hypoplastic labia minora | Hyporeflexia | Hypotonia | Hypoventilation | Impaired pain sensation | Impaired temperature sensation | Increased susceptibility to fractures | Infertility | Intellectual disability | Intrauterine growth retardation | Kyphosis | Micropenis | Mild intellectual disability | Moderate intellectual disability | Motor delay | Myopia | Narrow forehead | Narrow nasal bridge | Narrow palm | Nasogastric tube feeding in infancy | Neonatal hypotonia | Obesity | Obstructive sleep apnea | Oligohydramnios | Oligomenorrhea | Osteopenia | Osteoporosis | Periodontitis | Perisylvian polymicrogyria | Pituitary hypothyroidism | Polyhydramnios | Polyphagia | Poor fine motor coordination | Poor gross motor coordination | Poor suck | Precocious puberty | Premature adrenarche | Premature pubarche | Primary amenorrhea | Psychosis | Radial deviation of finger | Recurrent respiratory infections | Scoliosis | Seizure | Self-injurious behavior | Short foot | Short palm | Short stature | Skin-picking | Sleep apnea | Sleep disturbance | Small hand | Small pituitary gland | Small scrotum | Specific learning disability | Sporadic | Strabismus | Stroke | Syndactyly | Temperature instability | Thin upper lip vermilion | Type II diabetes mellitus | Upslanted palpebral fissure | Ventriculomegaly | Vomiting | Weak cry | Xerostomia" ], "symptoms_ja_list": [ "II 型糖尿病 | アーモンド型眼瞼裂 | 下垂体甲状腺機能低下症 | 不妊 | 不安 | 中枢性副腎不全 | 中枢性甲状腺機能低下症 | 中枢性睡眠時無呼吸 | 丹毒 | 乳児期の成長障害 (成長不全) | 乳児期の鼻腔栄養 | 低ゴナドトロピン性性腺機能低下症 | 低換気 | 低身長 | 体温不安定 | 停留精巣 | 側弯 | 傍シルビウス裂多小脳回 | 全般性発達遅滞 | 全身性低色素 | 全身性筋緊張低下 | 内斜視 | 前頭部のなで上げた毛髪 | 副腎不全 | 副腎皮質刺激ホルモン欠乏症 | 副腎皮質性思春期早発 | 卒中 | 原発性無月経 | 反射低下 | 反復性呼吸器感染症 | 口内乾燥症 | 口角下垂 | 合指趾症 | 吸啜不全 | 嗜眠 | 嘔吐 | 嚥下障害 | 外反膝 | 外性器低形成 | 大脳白質の異常 | 大陰唇低形成 | 子宮内成長遅滞 | 孤発性 | 小さい下垂体 | 小さい手 | 小陰唇低形成 | 小陰茎 | 希発月経 | 常染色体顕性遺伝 | 弱い泣き声 | 後弯 | 微細運動協調不全 | 思春期早発 | 思春期遅発 | 性腺機能低下症 | 恥毛早発 | 慢性便秘 | 成長ホルモン欠乏症 | 成長遅滞 | 成長障害 (成長不全) | 指の橈側偏位 | 斜視 | 新生児筋緊張低下 | 易骨折性の増加 | 歯の異常 | 歯エナメル質低形成 | 歯周炎 | 歯混雑 | 毛髪低色素 | 注意力欠陥多動性疾患 | 浮腫 | 温度覚障害 | 特異的学習障害 | 狭い手掌 | 狭い額 | 狭い鼻梁 | 異常な急速眼球運動 (REM) 睡眠 | 異常な顔の形 | 痛覚障害 | 発作 | 発語および言語発達遅延 | 皮膚ピッキング | 皮膚低色素 | 皮膚光線過敏症 | 眼瞼裂斜上 | 睡眠時無呼吸 | 睡眠障害 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "境界域 | 知的障害", "軽度 | 短い手掌 | 短い足 | 筋緊張低下 | 筋量減少 | 粗大運動協調不全 | 精巣サイズ減少 | 精神病 | 羊水過多 | 羊水過少 | 股関節異形成 | 肥満 | 胃不全麻痺 | 胃食道逆流 | 胎動減少 | 脳室拡大 | 腹部肥満 | 自傷行動 | 自閉性行動 | 自閉症 | 薄い上口唇唇紅部 | 行動異常 | 近視 | 運動発達遅滞 | 過食症 | 遠視 | 長頭 | 閉塞性睡眠時無呼吸 | 陰嚢低形成 | 陰核低形成 | 食餌摂取障害 in infancy | 骨成熟促進 | 骨減少症 | 骨盤位 | 骨粗鬆症 | 高αリポ蛋白血症 | 高インスリン血症 | 高コレステロール血症 | 高トリグリセリド血症 | 高血圧 | 鼻声発語 | 齲歯" ] }, { "id": "NANDO:2201099", "label_en": "Presymptomatic hyperargininemia", "label_ja": "発症前型高アルギニン血症", "yomigana": "はっしょうまえがたこうあるぎにんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201099", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200311", "label_en": "Paroxysmal nocturnal hemoglobinuria", "label_ja": "発作性夜間ヘモグロビン尿症", "yomigana": "ほっさせいやかんへもぐろびんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200311", "notificationNumber": "62", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200180", "label_en": "Other urinary tract malformations", "label_ja": "46及び47に掲げるもののほか、尿路奇形", "yomigana": "46および47にかかげるもののほか、にょうろきけい", "url": "http://nanbyodata.jp/ontology/NANDO_2200180", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100025", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200783", "label_en": "C5 deficiency", "label_ja": "C5 欠損症", "yomigana": "しー5けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200783", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Generalized seborrheic dermatitis | Intractable diarrhea | Recurrent Neisseria meningitidis infection | Recurrent Neisserial infections" ], "symptoms_ja_list": [ "全身性脂漏性皮膚炎 | 反復性淋菌感染症 | 反復性髄膜炎菌疾患 | 常染色体潜性遺伝 | 難治性下痢" ] }, { "id": "NANDO:2200577", "label_en": "Refsum disease", "label_ja": "レフサム病", "yomigana": "れふさむびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200577", "notificationNumber": "83", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [ "Abnormal epiphysis morphology | Abnormal foot morphology | Abnormal pyramidal sign | Abnormal renal physiology | Abnormal retinal pigmentation | Abnormality of eye movement | Abnormality of metabolism/homeostasis | Abnormality of the eye | Abnormality of vision | Anosmia | Arrhythmia | Ataxia | Autosomal recessive inheritance | Cardiomegaly | Cardiomyopathy | Cataract | Congestive heart failure | Developmental regression | Dry skin | Elevated circulating phytanic acid concentration | Hammertoe | Heart block | Hemiplegia/hemiparesis | Hyporeflexia | Hypotonia | Ichthyosis | Increased CSF protein concentration | Limb muscle weakness | Microphthalmia | Miosis | Multiple epiphyseal dysplasia | Nail dysplasia | Nyctalopia | Nystagmus | Peripheral neuropathy | Pes cavus | Progressive visual loss | Ptosis | Renal insufficiency | Respiratory insufficiency | Retinal degeneration | Retinopathy | Rod-cone dystrophy | Sensorimotor neuropathy | Sensorineural hearing impairment | Severe intellectual disability | Short fourth metatarsal | Short metacarpal | Skeletal dysplasia | Skeletal muscle atrophy | Somatic sensory dysfunction | Splenomegaly | Visual impairment" ], "symptoms_ja_list": [ "うっ血性心不全 | フィタン酸値上昇 | 不整脈 | 乾いた皮膚 | 代謝/ホメオスターシスの異常 | 凹足 | 反射低下 | 呼吸不全 | 四肢筋虚弱 | 多発性骨端異形成 | 夜盲症 | 小眼球 | 常染色体潜性遺伝 | 心ブロック | 心拡大 | 心筋症 | 感覚運動ニューロパチー | 感覚障害 | 感音難聴 | 末梢神経ニューロパチー | 槌趾 | 無嗅覚 | 爪異形成 | 片麻痺/片側不全麻痺 | 発達退行 | 白内障 | 眼の異常 | 眼振 | 眼瞼下垂 | 眼運動の異常 | 知的障害", "重度 | 短い中手骨 | 短い第4中足骨 | 筋緊張低下 | 筋萎縮 | 網膜変性 | 網膜症 | 網膜色素異常 | 縮瞳 | 脾腫 | 腎不全 | 腎生理異常 | 色素性網膜炎 | 視力障害 | 視覚の異常 | 足の異常 | 進行性視力喪失 | 運動失調 | 錐体路運動機能の異常 | 骨格異形成 | 骨端の異常 | 髄液タンパクの増加 | 魚鱗癬" ] }, { "id": "NANDO:2200451", "label_en": "PLCg2 deficiency", "label_ja": "PLCG2異常症", "yomigana": "ぴーえるしーじー2いじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200451", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Arthralgia | Autosomal dominant inheritance | Cataract | Cellulitis | Corneal erosion | Decreased circulating IgA concentration | Decreased circulating IgM concentration | Enterocolitis | Erythema | Immune dysregulation | Infantile onset | Interstitial pneumonitis | Recurrent sinopulmonary infections | Ulcerative colitis | Unusual bronchiolitis" ], "symptoms_ja_list": [ "IgA欠乏症 | IgM欠乏症 | 免疫調節障害 | 反復性副鼻腔肺感染症 | 小腸結腸炎 | 常染色体顕性遺伝 | 潰瘍性大腸炎 | 白内障 | 紅斑 | 細気管支炎 | 蜂巣織炎 | 角膜びらん | 間質性肺臓炎 | 関節痛" ] }, { "id": "NANDO:1200515", "label_en": "Dystonia 4", "label_ja": "DYT4ジストニア", "yomigana": "でぃーわいてぃー4じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200515", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal dominant inheritance | Blepharospasm | Dementia | Dysdiadochokinesis | Dysphagia | Dysphonia | Eunuchoid habitus | Gait ataxia | Gait disturbance | Generalized dystonia | Involuntary movements | Juvenile onset | Kyphoscoliosis | Laryngeal dystonia | Limb dystonia | Movement abnormality of the tongue | Narrow face | Open mouth | Respiratory distress | Slender build | Sunken cheeks | Torsion dystonia | Torticollis | Upper limb postural tremor | Young adult onset" ], "symptoms_ja_list": [ "Dementia | 上肢姿勢性振戦 | 不随意運動 | 全身性ジストニア | 呼吸窮迫 | 喉頭ジストニア | 嚥下障害 | 四肢ジストニア | 常染色体顕性遺伝 | 後側弯 | 拮抗運動反復不全 | 捻転ジストニア | 斜頚 | 歩行失調 | 歩行障害 | 狭い顔 | 発音障害 | 眼瞼スパスム | 細い体型 | 舌運動異常 | 落ちくぼんだ頬部 | 開口 | 類宦官体型" ] }, { "id": "NANDO:2100169", "label_en": "Disorder of vitamin metabolism", "label_ja": "ビタミン代謝異常症", "yomigana": "びたみんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100169", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201483", "label_en": "Primary contracted kidney", "label_ja": "細小動脈硬化性萎縮腎", "yomigana": "さいしょうどうみゃくこうかせいいしゅくじん", "url": "http://nanbyodata.jp/ontology/NANDO_2201483", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100026", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200571", "label_en": "Cystinosis", "label_ja": "シスチン症", "yomigana": "しすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200571", "notificationNumber": "120", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormality of endocrine pancreas physiology | Aciduria | Aminoaciduria | Aphasia | Azoospermia | Band keratopathy | Constipation | Corneal opacity | Cranial nerve paralysis | Decreased circulating carnitine concentration | Dehydration | Delayed puberty | EMG: myopathic abnormalities | Elevated circulating alkaline phosphatase concentration | Exocrine pancreatic insufficiency | Failure to thrive | Fatigue | Feeding difficulties | Fever | Gait disturbance | Glucose intolerance | Glycosuria | Growth delay | Hepatomegaly | Hyperphosphaturia | Hypocalcemia | Hypogonadism | Hypokalemia | Hyponatremia | Hypophosphatemia | Hypothyroidism | Hypotonia | Kidney stone | Malabsorption | Metabolic acidosis | Mild intellectual disability | Muscle weakness | Myopathy | Nephrocalcinosis | Nephrogenic diabetes insipidus | Nephropathy | Osteomalacia | Photophobia | Polydipsia | Portal hypertension | Proteinuria | Renal Fanconi syndrome | Renal insufficiency | Renal tubular dysfunction | Retinopathy | Rickets | Short stature | Splenomegaly | Type I diabetes mellitus | Visual impairment | Vomiting" ], "symptoms_ja_list": [ "I 型糖尿病 | くる病 | アミノ酸尿 | アルカリホスファターゼ上昇 | ミオパチー | 代謝性アシドーシス | 低カリウム血症 | 低カルシウム血症 | 低ナトリウム血症 | 低リン血症 | 低身長 | 便秘 | 内分泌膵生理の異常 | 吸収障害 | 嘔吐 | 外分泌性膵不全 | 多飲 | 失語症 | 尿糖 | 帯状角膜症 | 思春期遅発 | 性腺機能低下症 | 成長遅滞 | 成長障害 (成長不全) | 歩行障害 | 無精子症 | 甲状腺機能低下症 | 疲労 | 発熱 | 知的障害", "軽度 | 筋緊張低下 | 筋虚弱 | 筋電図: ミオパチー異常 | 網膜症 | 羞明 | 耐糖能異常 | 肝腫 | 脱水 | 脳神経麻痺 | 脾腫 | 腎不全 | 腎尿細管機能障害 | 腎性 Fanconi 症候群 | 腎源性尿崩症 | 腎症 | 腎石灰化症 | 腎結石 | 蛋白尿 | 血漿カルニチン減少 | 視力障害 | 角膜混濁 | 酸性尿 | 門脈圧亢進 | 食餌摂取障害 | 骨軟化症 | 高リン尿" ] }, { "id": "NANDO:2200782", "label_en": "C3 deficiency", "label_ja": "C3 欠損症", "yomigana": "しー3けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200782", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Childhood onset | Decreased circulating complement C3 concentration | Infantile onset | Membranoproliferative glomerulonephritis | Nephrotic syndrome | Recurrent bacterial infections | Recurrent fever | Recurrent pneumonia | Recurrent tonsillitis | Renal insufficiency | Systemic lupus erythematosus" ], "symptoms_ja_list": [ "ネフローゼ症候群 | 全身性紅斑性狼瘡 | 反復性細菌感染症 | 反復性肺炎 | 常染色体潜性遺伝 | 扁桃炎 | 発熱エピソード | 腎不全 | 膜性増殖性糸球体腎炎 | 血清補体 C3減少" ] }, { "id": "NANDO:2200705", "label_en": "Ataxia telangiectasia", "label_ja": "毛細血管拡張性運動失調症", "yomigana": "もうさいけっかんかくちょうせいうんどうしっちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200705", "notificationNumber": "55", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [ "Abnormal hair morphology | Abnormal speech pattern | Abnormal spermatogenesis | Abnormal testis morphology | Abnormal total B cell count | Abnormality of chromosome stability | Abnormality of eye movement | Abnormality of movement | Abnormality of the immune system | Acute lymphoblastic leukemia | Aplasia/Hypoplasia of the skin | Aplasia/Hypoplasia of the thymus | Ataxia | Autosomal recessive inheritance | Bronchiectasis | Cafe-au-lait spot | Cellular immunodeficiency | Childhood onset | Choreoathetosis | Chronic diarrhea | Cognitive impairment | Conjunctival telangiectasia | Decreased circulating IgA concentration | Decreased circulating IgG concentration | Decreased circulating IgG2 concentration | Decreased circulating immunoglobulin concentration | Decreased total T cell count | Decreased total lymphocyte count | Defective B cell differentiation | Delayed puberty | Delayed speech and language development | Diabetes mellitus | Diminished deep tendon reflex | Dysarthria | Dysdiadochokinesis | Dystonia | Elevated circulating alpha-fetoprotein concentration | Elevated circulating hepatic transaminase concentration | Failure to thrive | Female hypogonadism | Gait disturbance | Glucose intolerance | Hodgkin lymphoma | Hypopigmentation of hair | Hypoplasia of the thymus | Immunodeficiency | Inability to walk | Intention tremor | Leukemia | Lymphoma | Microcephaly | Mucosal telangiectasiae | Multiple cafe-au-lait spots | Myoclonus | Neoplasm | Non-Hodgkin lymphoma | Nystagmus | Polycystic ovaries | Premature graying of hair | Prematurely aged appearance | Progressive cerebellar ataxia | Recurrent bronchitis | Recurrent lower respiratory tract infections | Recurrent respiratory infections | Seizure | Short stature | Sinusitis | Skeletal muscle atrophy | Slurred speech | Spasticity | Strabismus | Telangiectasia of the skin | Tremor | Type II diabetes mellitus" ], "symptoms_ja_list": [ "B 細胞分化障害 | B 細胞数の異常 | Hodgkin リンパ腫 | II 型糖尿病 | IgA欠乏症 | IgG欠乏症 | T リンパ球減少症 | α-フェトプロテイン上昇 | カフェオーレ斑 | ジストニア | ミオクローヌス | リンパ球減少症 | リンパ腫 | 不明瞭言語 | 企図振戦 | 低ガンマグロブリン血症 | 低身長 | 免疫グロブリン IgG2欠乏症 | 免疫不全 | 免疫系の異常 | 副鼻腔炎 | 反復性下気道感染症 | 反復性呼吸器感染症 | 反復性気管支炎 | 多嚢胞性卵巣 | 多発性カフェオーレ斑 | 女性性腺機能低下症 hypogonadism | 小頭 | 常染色体潜性遺伝 | 思春期遅発 | 急性リンパ性白血病 | 慢性下痢 | 成長障害 (成長不全) | 拮抗運動反復不全 | 振戦 | 斜視 | 新生物 | 早発性毛髪白髪 | 早老外観 | 染色体安定性の異常 | 構音障害 | 歩行不能 | 歩行障害 | 毛髪の異常 | 毛髪低色素 | 気管支拡張 | 痙性 | 発作 | 発語および言語発達遅延 | 白血病 | 皮膚毛細血管拡張 | 皮膚無形成/低形成 | 眼振 | 眼運動の異常 | 神経学的発語障害 | 筋萎縮 | 粘膜の毛細血管拡張 | 精子形成異常 | 精巣異常 | 糖尿病 | 細胞免疫不全 | 結膜毛細血管拡張 | 耐糖能異常 | 肝トランスアミナーゼ上昇 | 胸腺低形成 | 胸腺無形成/低形成 | 腱反射減少 | 舞踏病アテトーゼ | 認知障害 | 進行性小脳失調 | 運動の異常 | 運動失調 | 非Hodgkin リンパ腫" ] }, { "id": "NANDO:1200164", "label_en": "Non-nephropathic cystinosis ", "label_ja": "非腎型シスチン症", "yomigana": "ひじんがたしすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200164", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal retinal morphology | Autosomal recessive inheritance | Corneal crystals | Elevated circulating creatinine concentration | Juvenile onset | Photophobia | Visual impairment | Young adult onset" ], "symptoms_ja_list": [ "常染色体潜性遺伝 | 網膜の異常 | 羞明 | 血清クレアチン症状 | 視力障害 | 角膜結晶" ] }, { "id": "NANDO:1201173", "label_en": "late-onset form glutaric acidemia type 2", "label_ja": "グルタル酸血症2型成人発症型", "yomigana": "ぐるたるさんけっしょう2がたせいじんはっしょうがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201173", "notificationNumber": "250", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200138", "label_en": "Amyloid nephropathy", "label_ja": "アミロイド腎", "yomigana": "あみろいどじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200138", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100013", "symptoms_en_list": [ "Abdominal pain | Abnormal lymph node morphology | Abnormal testis morphology | Abnormal urinary electrolyte concentration | Abnormality of the gastrointestinal tract | Adult onset | Anemia | Autosomal dominant inheritance | Cholestasis | Congestive heart failure | Decreased circulating HDL-C concentration | Decreased glomerular filtration rate | Decreased liver function | Diarrhea | Edema | Elevated circulating creatinine concentration | Elevated erythrocyte sedimentation rate | Gastroesophageal reflux | Gastrointestinal hemorrhage | Generalized amyloid deposition | Hematuria | Hepatomegaly | Hepatosplenomegaly | Hypertension | Hypogonadism | Intestinal obstruction | Lymphadenopathy | Male infertility | Myopathy | Nausea | Nephropathy | Nephrotic syndrome | Nocturia | Oligozoospermia | Peripheral neuropathy | Petechiae | Primary testicular failure | Proteinuria | Purpura | Renal amyloidosis | Renal insufficiency | Renal tubular atrophy | Skin rash | Splenomegaly | Tubulointerstitial fibrosis | Tubulointerstitial nephritis | Vomiting | Weight loss" ], "symptoms_ja_list": [ "うっ血性心不全 | ネフローゼ症候群 | ミオパチー | リンパ節の異常 | リンパ節腫大 | 下痢 | 乏精子症 | 体重喪失 | 全身性アミロイド沈着 | 原発性精巣不全 | 吐気 | 嘔吐 | 夜尿 | 尿中電解質濃度異常 | 尿細管萎縮 | 尿細管間質 線維症 | 尿細管間質性腎炎 | 常染色体顕性遺伝 | 性腺機能低下症 | 末梢神経ニューロパチー | 浮腫 | 点状出血 | 男性不妊 | 皮膚発疹 | 精巣異常 | 糸球体濾過率減少 | 紫斑 | 肝機能低下 | 肝脾腫 | 肝腫 | 胃腸出血 | 胃腸管の異常 | 胃食道逆流 | 胆汁うっ滞 | 脾腫 | 腎アミロイド症 | 腎不全 | 腎症 | 腸閉塞 | 腹痛 | 蛋白尿 | 血尿 | 血清クレアチン症状 | 貧血 | 赤沈値上昇 | 高αリポ蛋白血症 | 高血圧" ] }, { "id": "NANDO:1200537", "label_en": "Neurodegeneration with brain iron accumulation type 2", "label_ja": "脳内鉄沈着神経変性症2型", "yomigana": "のうないてつちんちゃくしんけいへんせいしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200537", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal cerebral white matter morphology | Abnormal pyramidal sign | Abnormal pyramidal tract morphology | Abnormality of peripheral nerve conduction | Abnormality of visual evoked potentials | Apneic episodes in infancy | Areflexia | Aspiration pneumonia | Ataxia | Atypical behavior | Autistic behavior | Autosomal recessive inheritance | Axial hypotonia | Blindness | Bulbar signs | Cerebellar atrophy | Cerebellar gliosis | Cerebral atrophy | Childhood onset | Constipation | Decreased nerve conduction velocity | Delayed speech and language development | Developmental regression | Diffuse axonal swelling | Downbeat nystagmus | Drooling | Dysarthria | Dystonia | EMG: chronic denervation signs | Emotional lability | Eye of the tiger anomaly of globus pallidus | Flexion contracture | Frontal bossing | Gait disturbance | Generalized hypotonia | Generalized muscle weakness | Gliosis | Global developmental delay | Hearing impairment | Hyperactivity | Hyperreflexia | Hypotonia | Impulsivity | Intellectual disability | Iron accumulation in brain | Mental deterioration | Micrognathia | Neurodegeneration | Neuronal loss in central nervous system | Nystagmus | Optic atrophy | Pendular nystagmus | Peripheral axonal neuropathy | Peripheral neuropathy | Progressive spasticity | Prominent forehead | Psychomotor deterioration | Reduced social responsiveness | Seizure | Sensorimotor neuropathy | Short attention span | Short nose | Spastic tetraparesis | Spastic tetraplegia | Spasticity | Strabismus | Temperature instability | Unsteady gait | Visual loss" ], "symptoms_ja_list": [ "びまん性軸索腫脹 | ジストニア | 下方眼振 | 不安定歩行 | 中枢神経のニューロン喪失 | 乳児期の無呼吸エピソード | 体幹の筋緊張低下 | 体温不安定 | 便秘 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性筋虚弱 | 前頭突出", "額突出 | 反射亢進 | 多動 | 大脳白質の異常 | 大脳萎縮 | 小脳神経膠症 | 小脳萎縮 | 小顎 | 屈曲拘縮 | 常染色体潜性遺伝 | 情動不安定 | 感覚運動ニューロパチー | 振り子様眼振 | 斜視 | 末梢神経ニューロパチー | 末梢神経伝導の異常 | 末梢神経軸索ニューロパチー | 構音障害 | 歩行障害 | 流涎 | 淡蒼球の虎の眼奇形 | 無反射 | 球症状 | 異常な自律神経生理 | 痙性 | 痙性四肢不全麻痺 | 痙性四肢麻痺 | 発作 | 発語および言語発達遅延 | 発達退行 | 目立つ額 | 盲 | 眼振 | 知的障害 | 知能悪化 | 短い注意期間 | 短い鼻 | 社会的相互関係障害 | 神経変性 | 神経活動電位の振幅減少 | 神経膠症 | 筋緊張低下 | 筋電図: 慢性変性サイン | 精神運動発達悪化 | 脳内鉄沈着 | 自閉性行動 | 行動異常 | 衝動性 | 視力喪失 | 視神経萎縮 | 視覚誘発電位の異常 | 誤嚥性肺炎 | 進行性痙性 | 運動失調 | 錐体路の形態異常 | 錐体路運動機能の異常 | 難聴" ] }, { "id": "NANDO:2200801", "label_en": "CD21 deficiency", "label_ja": "CR2欠損症", "yomigana": "しーあーる2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200801", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Chronic diarrhea | Decreased circulating IgA concentration | Decreased circulating specific pneumococcal antibody concentration | Fever | Myalgia | Recurrent infections | Recurrent respiratory infections | Recurrent urinary tract infections | Splenomegaly" ], "symptoms_ja_list": [ "IgA欠乏症 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性感染症 | 常染色体潜性遺伝 | 慢性下痢 | 特異的肺炎球菌抗体欠乏症 | 発熱 | 筋痛 | 脾腫" ] }, { "id": "NANDO:2201349", "label_en": "Spondyloepimetaphyseal dysplasia, Strudwick type", "label_ja": "脊椎骨端骨幹端異形成症 Strudwick型", "yomigana": "せきついこったんこっかんたんいけいせいしょう すとらどうぃっくがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201349", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal respiratory system physiology | Abnormal vertebral morphology | Abnormally ossified vertebrae | Anterior rib cupping | Autosomal dominant inheritance | Brachydactyly | C1-C2 subluxation | Carious teeth | Cervical instability | Cleft palate | Club-shaped proximal femur | Coarse facial features | Coxa vara | Delayed ossification of carpal bones | Delayed pubic bone ossification | Disproportionate short-limb short stature | Flared metaphysis | Flat face | Genu valgum | Glossoptosis | Hearing impairment | Hyperlordosis | Hypertelorism | Hypoplasia of the odontoid process | Hypoplastic pubic bone | Inguinal hernia | Intellectual disability | Laryngotracheomalacia | Limited hip movement | Maternal diabetes | Metaphyseal dappling | Metaphyseal irregularity | Micrognathia | Myopia | Narrow greater sciatic notch | Pectus carinatum | Pes planus | Platyspondyly | Protuberant abdomen | Restricted large joint movement | Scoliosis | Severe short stature | Short long bone | Small epiphyses | Spinal cord compression | Spondyloepimetaphyseal dysplasia" ], "symptoms_ja_list": [ "C1-C2 亜脱臼 | はと胸 | まだらの骨幹端 | 不均衡型短肢低身長 | 両眼隔離 | 側弯 | 内反股 | 前弯 | 前方肋骨カッピング | 口蓋裂 | 喉頭気管軟化症 | 外反膝 | 大関節運動制限 | 小さい骨端 | 小顎 | 常染色体顕性遺伝 | 平坦な顔 | 恥骨低形成 | 恥骨骨化遅延 | 扁平脊椎 | 扁平足 | 手根骨骨化遅延 | 棍棒型近位大腿骨 | 機能的呼吸異常 | 歯状突起低形成 | 母体糖尿病 | 狭い大仙坐骨切痕 | 知的障害 | 短い長管骨 | 短指症候群 | 粗な顔貌 | 股関節運動制限 | 脊椎の異常 | 脊椎骨端骨幹端異形成 | 脊椎骨骨化異常 | 脊髄圧迫 | 腹部突出 | 舌根沈下 | 近視 | 重度の低身長 | 難聴 | 頚椎不安定 | 骨幹端フレア | 骨幹端不規則性 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2200736", "label_en": "Immunodeficiency 41 with lymphoproliferation and autoimmunity", "label_ja": "CD25欠損症", "yomigana": "しーでぃー25けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200736", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Alopecia universalis | Autoimmune hemolytic anemia | Autosomal recessive inheritance | Cellulitis | Chronic diarrhea | Concave nasal ridge | Decreased circulating IgA concentration | Decreased specific anti-polysaccharide antibody concentration | Decreased total B cell count | Decreased total T cell count | Eczematoid dermatitis | Erythroderma | Failure to thrive in infancy | Hemolytic anemia | Hepatosplenomegaly | Hypothyroidism | Immunodeficiency | Increased circulating IgE concentration | Lymphadenopathy | Patchy alopecia | Prominent forehead | Psoriasiform dermatitis | Pulmonary infiltrates | Recurrent bacterial infections | Recurrent fungal infections | Recurrent oral thrush | Recurrent respiratory infections | Recurrent viral infections | Thyroiditis | Type I diabetes mellitus | Villous atrophy" ], "symptoms_ja_list": [ "B リンパ球減少症 | I 型糖尿病 | IgA欠乏症 | IgE 値増加 | T リンパ球減少症 | リンパ節腫大 | 乳児期の成長障害 (成長不全) | 乾癬 | 免疫不全 | 全禿頭 | 反復性ウイルス感染症 | 反復性カビ感染症 | 反復性呼吸器感染症 | 反復性細菌感染症 | 常染色体潜性遺伝 | 慢性下痢 | 慢性口腔カンジダ症 | 斑状禿頭 | 湿疹 | 溶血性貧血 | 特異的抗多糖類抗体欠乏症 | 甲状腺機能低下症 | 甲状腺炎 | 目立つ額 | 窪んだ鼻梁 | 紅皮症 | 絨毛萎縮 | 肝脾腫 | 肺浸潤 | 自己免疫性溶血性貧血 | 蜂巣織炎" ] }, { "id": "NANDO:2200281", "label_en": "Origin of pulmonary artery from ascending aorta", "label_ja": "肺動脈上行大動脈起始症", "yomigana": "はいどうみゃくじょうこうだいどうみゃくきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200281", "notificationNumber": "82", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100096", "symptoms_en_list": [ "Abnormal aortic arch morphology | Abnormal cardiovascular system morphology | Anomalous origin of left pulmonary artery from ascending aorta | Anomalous origin of right pulmonary artery from ascending aorta | Aortopulmonary window | Atrial septal defect | Coarctation of aorta | Congestive heart failure | Cyanosis | Exertional dyspnea | Failure to thrive | Hypoplastic left ventricle | Left-to-right shunt | Patent ductus arteriosus | Pulmonary arterial hypertension | Pulmonary artery atresia | Pulmonary hypoplasia | Recurrent respiratory infections | Right aortic arch | Tetralogy of Fallot | Transposition of the great arteries | Ventricular septal defect" ], "symptoms_ja_list": [ "Fallot 四徴症 | うっ血性心不全 | チアノーゼ | 動脈管開存症 | 反復性呼吸器感染症 | 右大動脈弓 | 右肺動脈の上行大動脈からの起始異常 | 大動脈弓の異常 | 大動脈縮窄 | 大動脈肺動脈窓 | 大血管転位 | 左-右シャントunt | 左心低形成 | 左肺動脈の上行大動脈からの起始異常 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 成長障害 (成長不全) | 肺低形成 | 肺動脈閉鎖 | 肺高血圧 | 運動性呼吸困難" ] }, { "id": "NANDO:2200823", "label_en": "Megalencephaly-capillary malformation syndrome", "label_ja": "巨脳症－毛細血管奇形症候群", "yomigana": "きょのうしょう－もうさいけっかんきけいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200823", "notificationNumber": "86", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal nervous system morphology | Aplasia/Hypoplasia of the cerebellum | Arrhythmia | Arteriovenous malformation | Asymmetric growth | Broad forehead | Cavum septum pellucidum | Cerebral ischemia | Chiari malformation | Cutis marmorata | Deeply set eye | Depressed nasal bridge | Downslanted palpebral fissures | Epicanthus | Facial asymmetry | Failure to thrive | Finger syndactyly | Foot polydactyly | Frontal bossing | Full cheeks | Generalized hypotonia | Global developmental delay | Hand polydactyly | Hernia | High forehead | Hydrocephalus | Hypermelanotic macule | Hypertelorism | Hypotonia | Intellectual disability | Joint hypermobility | Large earlobe | Leukemia | Macrocephaly | Megalencephaly | Meningioma | Microphthalmia | Neoplasm | Nephroblastoma | Nevus flammeus | Optic atrophy | Overgrowth | Polydactyly | Polymicrogyria | Progressive macrocephaly | Seizure | Smooth philtrum | Sporadic | Syndactyly | Telangiectasia of the skin | Toe syndactyly | Typified by somatic mosaicism | Ventricular septal defect | Ventriculomegaly | Visceral angiomatosis | Wide mouth" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | ヘルニア | メラニン増加性斑 | 不整脈 | 両眼隔離 | 体細胞モザイク | 全般性発達遅滞 | 全身性筋緊張低下 | 内眼角贅皮 | 内臓血管腫症 | 前頭突出", "額突出 | 動静脈奇形 | 合指症 | 合指趾症 | 合趾症 | 多小脳回 | 多指症 | 多指趾症 | 多趾症 | 大きな耳朶 | 大きな頬 | 大理石皮膚 | 大脳虚血 | 大頭 | 孤発性 | 小眼球 | 小脳無形成/低形成 | 巨大脳症 | 幅広い口 | 幅広い額 | 平坦な人中 | 循環器系の形態異常 | 心室中隔欠損 | 成長障害 (成長不全) | 新生物 | 水頭症 | 火炎状母斑 | 発作 | 白血病 | 皮膚毛細血管拡張 | 眼瞼裂斜下 | 知的障害 | 神経系形態の異常 | 筋緊張低下 | 脳室拡大 | 腎芽腫 (Wilms 腫瘍) | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 視神経萎縮 | 透明中隔嚢胞 | 進行性大頭 | 過成長 | 関節過動 | 非対称性成長 | 顔面非対称 | 髄膜腫 | 高い額" ] }, { "id": "NANDO:1200370", "label_en": "Ossification of ligamentum flavum", "label_ja": "黄色靱帯骨化症", "yomigana": "おうしょくじんたいこっかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200370", "notificationNumber": "68", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201181", "label_en": "Mucopolysaccharidosis type VI, intermediate form", "label_ja": "中間型ムコ多糖症VI型", "yomigana": "ちゅうかんがたむこたとうしょう6がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201181", "notificationNumber": "133", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201367", "label_en": "Metaphyseal dysplasias", "label_ja": "骨幹端異形成症", "yomigana": "こっかんたんいけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201367", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal thorax morphology | Absent paranasal sinuses | Adult onset | Arthralgia | Autosomal recessive inheritance | Back pain | Carious teeth | Childhood onset | Craniofacial osteosclerosis | Cubitus valgus | Delayed eruption of permanent teeth | Delayed eruption of teeth | Dental malocclusion | Enlarged metaphyses | Erlenmeyer flask deformity of the femurs | Genu valgum | Hypoplastic frontal sinuses | Increased susceptibility to fractures | Juvenile onset | Limited elbow extension | Mandibular prognathia | Medial widening of clavicle | Metaphyseal dysplasia | Metaphyseal widening | Muscle weakness | Persistence of primary teeth | Platyspondyly | Protruding ear | Reduced bone mineral density | Scoliosis | Thickened calvaria | Thin bony cortex | Thin calvarium | Wormian bones" ], "symptoms_ja_list": [ "ウォルム氏骨 | 下顎突出 | 不正咬合 | 乳歯遺残 | 側弯 | 分厚い頭蓋冠 | 前頭洞低形成 | 副鼻腔欠損 | 外反肘 | 外反膝 | 大腿骨のErlenmeyer フラスコ変形 | 常染色体潜性遺伝 | 扁平脊椎 | 易骨折性の増加 | 歯萠出遅延 | 永久歯萠出遅延 | 筋虚弱 | 耳介聳立 | 肘伸展制限 | 背部痛 | 胸郭の異常 | 薄い頭蓋冠 | 薄い骨皮質 | 鎖骨の内方拡大 | 関節痛 | 頭蓋顔面骨硬化症 | 骨ミネラル濃度減少 | 骨幹端の拡大 | 骨幹端拡大 | 骨幹端異形成 | 齲歯" ] }, { "id": "NANDO:1201053", "label_en": "Slow-channel congenital myasthenic syndrome", "label_ja": "スローチャンネル症候群", "yomigana": "すろーちゃんねるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201053", "notificationNumber": "12", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201100", "label_en": "Spondyloepimetaphyseal dysplasia, Maroteaux type ", "label_ja": "脊椎骨端骨幹端異形成症Maroteaux 型", "yomigana": "せきつい こったん こっかんたん いけいせいしょうまろとーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201100", "notificationNumber": "341", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Atlantoaxial instability | Autosomal dominant inheritance | Genu valgum | Intellectual disability | Kyphoscoliosis | Mucopolysacchariduria | Opacification of the corneal stroma | Pectus carinatum | Pes planus | Platyspondyly | Shield chest | Short femoral neck | Short neck | Short palm | Short stature | Spondyloepiphyseal dysplasia" ], "symptoms_ja_list": [ "はと胸 | ムコ多糖症 | 低身長 | 外反膝 | 常染色体顕性遺伝 | 後側弯 | 扁平脊椎 | 扁平足 | 環軸椎不安定 | 盾状胸 | 知的障害 | 短い大腿骨頸部 | 短い手掌 | 短い頸部 | 脊椎骨端異形成 | 角膜間質混濁形成" ] }, { "id": "NANDO:1200440", "label_en": "Primary sclerosing cholangitis", "label_ja": "原発性硬化性胆管炎", "yomigana": "げんぱつせいこうかせいたんかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200440", "notificationNumber": "94", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abdominal pain | Abnormal biliary tract morphology | Abnormal eosinophil morphology | Abnormal large intestine physiology | Acute hepatic failure | Amyloid deposition | Ascites | Autoimmunity | Celiac disease | Cholelithiasis | Cholestasis | Chronic hepatic failure | Cirrhosis | Congestive heart failure | Decreased circulating vitamin D concentration | Decreased circulating vitamin E concentration | Decreased circulating vitamin K concentration | Depression | Elevated alkaline phosphatase of hepatic origin | Elevated circulating hepatic transaminase concentration | Encephalopathy | Fatigue | Fever | Generalized amyotrophy | Hepatic fibrosis | Hepatitis | Hepatocellular carcinoma | Hepatomegaly | Hepatosplenomegaly | Histiocytosis | Hypoalbuminemia | Jaundice | Neoplasm of the gallbladder | Osteopenia | Osteoporosis | Palmar telangiectasia | Pancreatitis | Pleural effusion | Polyclonal elevation of circulating IgM concentration | Portal hypertension | Prolonged prothrombin time | Pruritus | Recurrent systemic pyogenic infections | Reduced circulating vitamin A concentration | Renal insufficiency | Spider hemangioma | Splenomegaly | Thyroiditis | Type I diabetes mellitus | Ulcerative colitis | Uveitis | Weight loss" ], "symptoms_ja_list": [ "I 型糖尿病 | うっ血性心不全 | うつ | くも状血管腫 | アミロイドーシス | セリアック秒 | ビタミンA欠乏症 | ビタミンD欠乏症 | ビタミンE欠乏症 | ビタミンK欠乏症 | ブドウ膜炎 | プロトロンビン時間遷延 | ポリクローナル IgM 上昇 | 体重喪失 | 全身性筋萎縮 | 反復性全身性化膿性感染症 | 好酸球の異常 | 急性肝不全 | 慢性肝不全 | 手掌毛細血管拡張 | 掻痒 | 潰瘍性大腸炎 | 甲状腺炎 | 異常な大腸生理 | 異常な胆道形態 | 疲労 | 発熱 | 組織球症 | 肝トランスアミナーゼ上昇 | 肝炎 | 肝由来アルカリホスファターゼ上昇 | 肝硬変 | 肝細胞癌 | 肝線維症 | 肝脾腫 | 肝腫 | 胆嚢新生物 | 胆汁うっ滞 | 胆石症 | 胸膜滲出液 | 脳症 | 脾腫 | 腎不全 | 腹水 | 腹痛 | 膵炎 | 自己免疫 | 門脈圧亢進 | 骨減少症 | 骨粗鬆症 | 高アルブミン血症 | 黄疸" ] }, { "id": "NANDO:1200247", "label_en": "Toxic epidermal necrolysis with spots", "label_ja": "中毒性表皮壊死症（SJS進展型）", "yomigana": "ちゅうどくせいひょうひえししょう（えすじぇいえすしんてんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200247", "notificationNumber": "39", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100227", "label_en": "Craniosynostosis", "label_ja": "頭蓋骨縫合早期癒合症", "yomigana": "ずがいこつほうごうそうきゆごうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100227", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100082", "label_en": "Aorto-pulmonary window", "label_ja": "大動脈肺動脈窓", "yomigana": "だいどうみゃくはいどうみゃくそう", "url": "http://nanbyodata.jp/ontology/NANDO_2100082", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200352", "label_en": "Adrenal adenoma", "label_ja": "副腎腺腫", "yomigana": "ふくじんせんしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200352", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100127", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201004", "label_en": "Pachydermoperiostosis", "label_ja": "肥厚性皮膚骨膜症", "yomigana": "ひこうせいひふこつまくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201004", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100288", "symptoms_en_list": [ "Abnormal bone marrow cell morphology | Abnormal cortical bone morphology | Abnormal epiphysis morphology | Abnormal fingernail morphology | Abnormal hair pattern | Abnormal hair quantity | Acne | Anemia | Arthralgia | Arthritis | Avascular necrosis | Bone pain | Cerebral palsy | Clubbing of toes | Coarse facial features | Cutis gyrata of scalp | Eczematoid dermatitis | Edema | Elevated circulating growth hormone concentration | Gastrointestinal hemorrhage | Genu varum | Gynecomastia | Hepatomegaly | Hyperhidrosis | Impaired temperature sensation | Joint swelling | Limitation of joint mobility | Malabsorption | Neoplasm of the lung | Neoplasm of the skin | Osteolysis | Osteomyelitis | Osteoporosis | Palmoplantar keratoderma | Peptic ulcer | Ptosis | Scoliosis | Seborrheic dermatitis | Small hand | Splenomegaly | Thickened skin" ], "symptoms_ja_list": [ "?瘡 | ばち趾 | 側弯 | 内反膝 | 分厚い皮膚 | 吸収障害 | 多汗 | 女性型乳房 | 小さい手 | 成長ホルモン過剰症 | 指爪の異常 | 掌蹠角皮症 | 浮腫 | 消化性潰瘍 | 温度覚障害 | 湿疹 | 無菌性壊死 | 異常な毛髪パターン | 異常な毛髪量 | 皮膚新生物 | 眼瞼下垂 | 粗な顔貌 | 肝腫 | 肺新生物 | 胃腸出血 | 脂漏性皮膚炎 | 脳回状頭皮 | 脳性麻痺 | 脾腫 | 貧血 | 関節炎 | 関節痛 | 関節腫脹 | 関節運動制限 | 骨痛 | 骨皮質形態異常 | 骨端の異常 | 骨粗鬆症 | 骨融解 | 骨髄炎 | 骨髄細胞形態の異常" ] }, { "id": "NANDO:2200276", "label_en": "Subvalvular pulmonary stenosis", "label_ja": "肺動脈弁下狭窄症", "yomigana": "はいどうみゃくべんかきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200276", "notificationNumber": "86", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100092", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201399", "label_en": "Ring chromosome 20 syndrome", "label_ja": "環状20番染色体症候群", "yomigana": "かんじょう20ばんせんしょくたいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201399", "notificationNumber": "68", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [ "Atypical behavior | EEG abnormality | Epileptic encephalopathy | Focal motor seizure | Growth delay | Intellectual disability | Mental deterioration | Neurodevelopmental delay | Short attention span | Specific learning disability" ], "symptoms_ja_list": [ "てんかん性脳症 | 成長遅滞 | 焦点性運動発作 | 特異的学習障害 | 知的障害 | 知能悪化 | 短い注意期間 | 神経発生遅延 | 脳波異常 | 行動異常" ] }, { "id": "NANDO:2200185", "label_en": "Prune belly syndrome", "label_ja": "Prune belly症候群", "yomigana": "ぷるーんべりーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200185", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100025", "symptoms_en_list": [ "Abnormal rib morphology | Abnormality of the bladder | Abnormality of the ureter | Abnormality of the uterus | Anal atresia | Aplasia of the abdominal wall musculature | Aplasia/Hypoplasia of the lungs | Atrial septal defect | Autosomal recessive inheritance | Cognitive impairment | Congenital hip dislocation | Congenital posterior urethral valve | Constipation | Cryptorchidism | Decreased fertility | Decreased testicular size | Failure to thrive | Hydronephrosis | Hydroureter | Intestinal atresia | Intestinal malrotation | Multicystic kidney dysplasia | Oligohydramnios | Patent ductus arteriosus | Pectus carinatum | Pectus excavatum | Prune belly | Recurrent respiratory infections | Recurrent urinary tract infections | Renal insufficiency | Scoliosis | Talipes equinovarus | Tetralogy of Fallot | Urogenital sinus anomaly | Ventricular septal defect | Vertebral segmentation defect | Vesicoureteral reflux | Volvulus | Xerostomia" ], "symptoms_ja_list": [ "Fallot 四徴症 | はと胸 | プルーンべりー | 便秘 | 停留精巣 | 側弯 | 先天性後部尿道弁 | 先天性股関節脱臼 | 内反尖足 | 動脈管開存症 | 反復性呼吸器感染症 | 反復性尿路感染症 | 口内乾燥症 | 多嚢胞腎異形成 | 妊孕性減少 | 子宮異常 | 尿管異常 | 常染色体潜性遺伝 | 心室中隔欠損 | 心房中隔欠損 | 成長障害 (成長不全) | 水尿管症 | 水腎症 | 泌尿生殖洞奇形 | 漏斗胸 | 精巣サイズ減少 | 羊水過少 | 肋骨の異常 | 肺無形成/低形成 | 脊椎分節異常 | 腎不全 | 腸回転異常 | 腸捻転 | 腸閉鎖 | 腹壁筋無形成 | 膀胱尿管逆流 | 膀胱異常 | 認知障害 | 鎖肛" ] }, { "id": "NANDO:2200184", "label_en": "Megaureter", "label_ja": "巨大尿管症", "yomigana": "きょだいにょうかんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200184", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100025", "symptoms_en_list": [ "Abdominal pain | Abnormal penis morphology | Abnormality of the upper urinary tract | Congenital megaureter | Fever | Hydronephrosis | Kidney stone | Microscopic hematuria | Recurrent urinary tract infections | Vesicoureteral reflux" ], "symptoms_ja_list": [ "上部尿路異常 | 先天性巨大尿管 | 反復性尿路感染症 | 水腎症 | 発熱 | 腎結石 | 腹痛 | 膀胱尿管逆流 | 陰茎異常 | 顕微血尿" ] }, { "id": "NANDO:2200105", "label_en": "Mature teratoma", "label_ja": "成熟奇形腫", "yomigana": "せいじゅくきけいしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200105", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200756", "label_en": "Shwachman-Diamond syndrome", "label_ja": "シュワッハマン・ダイアモンド症候群", "yomigana": "しゅわっはまん・だいあもんどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200756", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [ "Abnormal finger morphology | Abnormal heart morphology | Abnormal joint morphology | Abnormality of blood and blood-forming tissues | Abnormality of the gastrointestinal tract | Abnormality of the outer ear | Abnormality of the skeletal system | Acute myeloid leukemia | Anemia | Aplastic anemia | Atypical behavior | Autistic behavior | Bone marrow hypocellularity | Carious teeth | Decreased circulating vitamin D concentration | Decreased circulating vitamin E concentration | Decreased circulating vitamin K concentration | Decreased response to growth hormone stimulation test | Decreased total leukocyte count | Decreased total neutrophil count | Deformed rib cage | Delayed eruption of teeth | Delayed skeletal maturation | Diabetes mellitus | Eczematoid dermatitis | Elevated circulating hepatic transaminase concentration | Exocrine pancreatic insufficiency | Failure to thrive | Fat malabsorption | Growth delay | Hearing impairment | Hepatomegaly | Ichthyosis | Immunodeficiency | Increased mean corpuscular volume | Increased serum bile acid concentration | Intellectual disability | Leukemia | Macrocytic anemia | Malnutrition | Metaphyseal chondrodysplasia | Metaphyseal irregularity | Metaphyseal widening | Myelodysplasia | Normocytic anemia | Oral ulcer | Osteomyelitis | Osteopenia | Pancreatic hypoplasia | Pancytopenia | Pneumonia | Proximal femoral epiphysiolysis | Recurrent bacterial infections | Recurrent viral infections | Reduced circulating vitamin A concentration | Sepsis | Short attention span | Short stature | Sinusitis | Skin rash | Steatorrhea | Thrombocytopenia | Vertebral compression fracture" ], "symptoms_ja_list": [ "ビタミンA欠乏症 | ビタミンD欠乏症 | ビタミンE欠乏症 | ビタミンK欠乏症 | 低身長 | 免疫不全 | 再生不良性貧血 | 副鼻腔炎 | 反復性ウイルス感染症 | 反復性細菌感染症 | 口腔潰瘍 | 変形した肋骨胸郭 | 外分泌性膵不全 | 外耳の異常 | 大球性貧血 | 好中球減少症 | 巨大赤血球症 | 心形態の異常 | 急性骨髄性白血病 | 成長ホルモン欠乏症 | 成長遅滞 | 成長障害 (成長不全) | 指の異常 | 敗血症 | 栄養失調 | 正球性貧血 | 歯萠出遅延 | 汎血球減少症 | 湿疹 | 白血球減少症 | 白血病 | 皮膚発疹 | 知的障害 | 短い注意期間 | 糖尿病 | 肝トランスアミナーゼ上昇 | 肝腫 | 肺炎 | 胃腸管の異常 | 脂肪便 | 脂肪吸収不全 | 脊椎圧迫骨折 | 膵低形成 | 自閉性行動 | 血小板減少 | 血液および血液痙性組織の異常 | 血清胆汁酸濃度の増加 | 行動異常 | 貧血 | 近位大腿骨骨端融解 | 関節形態異常 | 難聴 | 骨幹端不規則性 | 骨幹端拡大 | 骨幹端軟骨異形成 | 骨格の異常 | 骨格骨化遅延 | 骨減少症 | 骨髄炎 | 骨髄異形成 | 骨髄細胞数増多 | 魚鱗癬 | 齲歯" ] }, { "id": "NANDO:2201402", "label_en": "Epileptic encephalopathy with continuous spike-and-wave during sleep", "label_ja": "徐波睡眠期持続性棘徐波を示すてんかん性脳症", "yomigana": "じょはすいみんきじぞくせいきょくじょはをしめすてんかんせいのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201402", "notificationNumber": "71", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200690", "label_en": "Protein S deficiency", "label_ja": "先天性プロテインS欠乏症", "yomigana": "せんてんせいぷろていんえすけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200690", "notificationNumber": "45", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100198", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100236", "label_en": "Refractory epileptic encephalopathy", "label_ja": "難治てんかん脳症", "yomigana": "なんじてんかんのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100236", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200087", "label_en": "Type 1 Farber disease", "label_ja": "古典型ファーバー病", "yomigana": "こてんがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200087", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200856", "label_en": "Duchenne muscular dystrophy", "label_ja": "デュシェンヌ型筋ジストロフィー", "yomigana": "でゅしぇんぬがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200856", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [ "Abnormal EKG | Achilles tendon contracture | Arrhythmia | Calf muscle hypertrophy | Calf muscle pseudohypertrophy | Cardiomyopathy | Childhood onset | Cognitive impairment | Congestive heart failure | Delayed gross motor development | Delayed speech and language development | Difficulty climbing stairs | Dilated cardiomyopathy | Elevated circulating creatine kinase activity | Flexion contracture | Global developmental delay | Gowers sign | Hamstring contractures | Hyperlordosis | Hyporeflexia | Hypotonia | Hypoventilation | Knee flexion contracture | Loss of ambulation | Mild intellectual disability | Motor delay | Muscle weakness | Muscular dystrophy | Obstructive sleep apnea | Progressive muscle weakness | Proximal muscle weakness | Respiratory failure | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Restrictive ventilatory defect | Scoliosis | Skeletal muscle atrophy | Specific learning disability | Waddling gait | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Gowers サイン | X連鎖潜性遺伝 | うっ血性心不全 | よたつき歩行 | アキレス腱拘縮 | ハムストリング拘縮 | 不整脈 | 低換気 | 側弯 | 全般性発達遅滞 | 前弯 | 反射低下 | 呼吸不全 | 屈曲拘縮 | 心筋症 | 心電図異常 | 拘束性肺疾患 | 拡張型心筋症 | 特異的学習障害 | 発語および言語発達遅延 | 知的障害", "軽度 | 筋ジストロフィー | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 筋虚弱による呼吸不全 | 粗大運動発達遅延 | 腓腹筋仮性肥大 | 腓腹筋肥大 | 膝屈曲拘縮 | 血清 creatine phosphokinase上昇 | 認知障害 | 近位筋虚弱 | 進行性歩行不安定 | 進行性筋虚弱 | 運動発達遅滞 | 閉塞性睡眠時無呼吸 | 階段の登り困難" ] }, { "id": "NANDO:1200969", "label_en": "Carnitine cycle disorders", "label_ja": "カルニチン回路異常症", "yomigana": "かるにちんかいろいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200969", "notificationNumber": "316", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200011", "label_en": "Acute megakaryoblastic leukemia", "label_ja": "急性巨核芽球性白血病", "yomigana": "きゅうせいきょかくがきゅうせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200011", "notificationNumber": "70", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200472", "label_en": "TNF receptor-associated periodic fever syndrome", "label_ja": "TNF受容体関連周期性症候群", "yomigana": "てぃーえぬえふじゅようたいかんれんしゅうきせいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200472", "notificationNumber": "108", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal myocardium morphology | Abnormal sacroiliac joint morphology | Arthralgia | Arthritis | Atypical behavior | Autosomal dominant inheritance | Bone pain | Bruising susceptibility | Cellulitis | Chest pain | Chronic constipation | Chronic diarrhea | Conjunctivitis | Constipation | Cranial nerve paralysis | Diarrhea | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Erysipelas | Erythema | Fasciitis | Gastrointestinal hemorrhage | Headache | Hepatic amyloidosis | Hepatomegaly | Hypermelanotic macule | Increased total leukocyte count | Intestinal obstruction | Lymphadenopathy | Macule | Migraine | Muscle stiffness | Myalgia | Myositis | Orchitis | Paresthesia | Pericarditis | Periorbital edema | Peritonitis | Pleuritis | Polyarticular arthritis | Recurrent fever | Recurrent pharyngitis | Skin rash | Splenomegaly | Uveitis | Vasculitis | Vertigo | Vomiting" ], "symptoms_ja_list": [ "CRP 上昇 | ブドウ膜炎 | メラニン増加性斑 | リンパ節腫大 | 下痢 | 丹毒 | 仙腸関節の異常 | 便秘 | 偏頭痛 | 共通 | 出血傾向 | 反復性咽頭炎 | 嘔吐 | 多関節関節炎 | 常染色体顕性遺伝 | 心外膜炎 | 心筋の異常 | 感覚異常 | 慢性下痢 | 慢性便秘 | 斑 | 発熱エピソード | 白血球増多症 | 皮膚発疹 | 眩暈 | 眼窩周囲浮腫 | 筋炎 | 筋痛 | 筋硬直 | 筋膜炎 | 精巣炎 | 紅斑 | 結膜炎 | 肝アミロイドーシス | 肝腫 | 胃腸出血 | 胸膜炎 | 脳神経麻痺 | 脾腫 | 腸閉塞 | 腹痛 | 腹膜炎 | 蜂巣織炎 | 血管炎 | 行動異常 | 赤沈値上昇 | 関節炎 | 関節痛 | 頭痛 | 骨痛" ] }, { "id": "NANDO:2201382", "label_en": "Dominant dystrophic epidermolysis bullosa", "label_ja": "優性栄養障害型表皮水疱症", "yomigana": "ゆうせいえいようしょうがいがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201382", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200785", "label_en": "Phenylalanine hydroxylase deficiency", "label_ja": "フェニルアラニン水酸化酵素欠損症", "yomigana": "ふぇにるあらにんすいさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200785", "notificationNumber": "240", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal cerebral white matter morphology | Aggressive behavior | Anxiety | Ataxia | Attention deficit hyperactivity disorder | Atypical behavior | Autosomal recessive inheritance | Blue irides | Cataract | Cerebral calcification | Cerebral visual impairment | Compulsive behaviors | Dementia | Depression | Dry skin | EEG abnormality | Eczematoid dermatitis | Encephalopathy | Fair hair | Generalized hypopigmentation | Global developmental delay | Growth delay | Hyperactivity | Hyperphenylalaninemia | Hyperreflexia | Hypopigmentation of the skin | Intellectual disability | Irritability | Lower limb spasticity | Maternal hyperphenylalaninemia | Microcephaly | Osteopenia | Phenylpyruvic acidemia | Pregnancy history | Psychosis | Reduced phenylalanine hydroxylase level | Scleroderma | Seizure | Self-mutilation | Severe intellectual disability | Short attention span | Specific learning disability | Tremor" ], "symptoms_ja_list": [ "Dementia | phenylalanine hydroxylase 活性減少 | うつ | フェニルピルビン酸酸血症 | 下肢痙性 | 不安 | 乾いた皮膚 | 全般性発達遅滞 | 全身性低色素 | 出生前の母体異常 | 反射亢進 | 多動 | 大脳白質の異常 | 大脳石灰化 | 小頭 | 常染色体潜性遺伝 | 強皮症 | 強迫性行動 | 循環器系の形態異常 | 成長遅滞 | 振戦 | 攻撃的行動 | 母体高フェニールアラニン結晶 | 注意力欠陥多動性疾患 | 湿疹 | 特異的学習障害 | 発作 | 白内障 | 皮膚低色素 | 皮質性視力障害 | 知的障害 | 知的障害", "重度 | 短い注意期間 | 精神病 | 脳波異常 | 脳症 | 自己切断 | 行動異常 | 被刺激性 | 運動失調 | 金髪 | 青色虹彩 | 骨減少症 | 高フェニールアラニン血症" ] }, { "id": "NANDO:2200813", "label_en": "Meningoencephalocele", "label_ja": "髄膜脳瘤", "yomigana": "ずいまくのうりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2200813", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100215", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100252", "label_en": "Myasthenia gravis", "label_ja": "重症筋無力症", "yomigana": "じゅうしょうきんむりょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100252", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200984", "label_en": "Nonketotic hyperglycinemia", "label_ja": "非ケトーシス型高グリシン血症", "yomigana": "ひけとーしすがたこうぐりしんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200984", "notificationNumber": "321", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal metabolic brain imaging by MRS | Breathing dysregulation | EEG abnormality | EEG with burst suppression | Generalized myoclonic seizure | Hyperglycinemia | Hypoplasia of the corpus callosum | Hypotonia | Lethargy | Poor suck | Recurrent singultus | Respiratory acidosis | Seizure" ], "symptoms_ja_list": [ "MRSでの異常な代謝性脳画像 | 全身性ミオクローヌス発作 | 反復性しゃっくり | 吸啜不全 | 呼吸調節障害 | 活性減少アシドーシス | 無気力 | 発作 | 筋緊張低下 | 群発‐抑制交代を伴う脳波 | 脳梁低形成 | 脳波異常 | 高グリシン血症" ] }, { "id": "NANDO:1200909", "label_en": "Cloacal exstrophy", "label_ja": "総排泄腔外反症", "yomigana": "そうはいせつくうがいはんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200909", "notificationNumber": "292", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abnormal clitoris morphology | Abnormal fallopian tube morphology | Abnormal fibula morphology | Abnormal tibia morphology | Absent foot | Anal atresia | Bladder exstrophy | Cloacal exstrophy | Ectopic kidney | Hemivertebrae | Hip dislocation | Horseshoe kidney | Hydroureter | Hypoplasia of penis | Intestinal duplication | Intestinal malrotation | Myelomeningocele | Omphalocele | Renal hypoplasia/aplasia | Spina bifida | Talipes equinovarus | Ureterocele | Ureteropelvic junction obstruction | Vesicoureteral reflux" ], "symptoms_ja_list": [ "二分脊椎 | 内反尖足 | 半脊椎 | 卵管異常 | 尿管瘤 | 尿管腎盂接合部閉塞 | 水尿管症 | 異所性腎 | 総排泄腔外反 | 股関節脱臼 | 脊髄髄膜瘤 | 脛骨の異常 | 腎低形成/無形成 | 腓骨の異常 | 腸回転異常 | 腸重複 | 膀胱外反症 | 膀胱尿管逆流 | 臍帯ヘルニア | 足欠損 | 鎖肛 | 陰核異常 | 陰茎低形成 | 馬蹄腎" ] }, { "id": "NANDO:1200354", "label_en": "Cyclic neutropenia", "label_ja": "周期性好中球減少症", "yomigana": "しゅうきせいこうちゅうきゅうげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200354", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abdominal pain | Atrophy of alveolar ridges | Autosomal dominant inheritance | Bone pain | Cellulitis | Decreased total lymphocyte count | Enterocolitis | Fatigue | Fever | Gingivitis | Headache | Lymphadenopathy | Oral ulcer | Otitis media | Perianal abscess | Periodontitis | Peritonitis | Premature loss of permanent teeth | Recurrent fever | Recurrent skin infections | Recurrent tonsillitis | Respiratory tract infection | Sepsis | Sinusitis | Thrombocytopenia" ], "symptoms_ja_list": [ "リンパ球減少症 | リンパ節腫大 | 中耳炎 | 副鼻腔炎 | 反復性皮膚感染症 | 口腔潰瘍 | 呼吸器感染 | 小腸結腸炎 | 常染色体顕性遺伝 | 扁桃炎 | 敗血症 | 早発性永久歯喪失 | 歯周炎 | 歯槽隆起萎縮 | 歯肉炎 | 疲労 | 発熱 | 発熱エピソード | 肛門周囲膿瘍 | 腹痛 | 腹膜炎 | 蜂巣織炎 | 血小板減少 | 頭痛 | 骨痛" ] }, { "id": "NANDO:2200204", "label_en": "Kartagener syndrome", "label_ja": "カルタゲナー症候群", "yomigana": "かるたげなーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200204", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100034", "symptoms_en_list": [ "Abnormal atrial arrangement | Abnormal cardiovascular system morphology | Abnormal heart morphology | Abnormal sperm motility | Abnormality of the genitourinary system | Abnormality of the skeletal system | Airway obstruction | Anomalous pulmonary venous return | Asplenia | Atelectasis | Atrial situs ambiguous | Bronchiectasis | Chronic otitis media | Chronic rhinitis | Chronic sinusitis | Clubbing | Conductive hearing impairment | Delayed speech and language development | Double outlet right ventricle | Female infertility | Hearing impairment | Hydrocephalus | Intestinal malrotation | Male infertility | Morphological central nervous system abnormality | Nasal congestion | Nasal polyposis | Neonatal respiratory distress | Persistent left superior vena cava | Polysplenia | Pulmonary situs ambiguus | Recurrent mycobacterial infections | Recurrent otitis media | Recurrent sinopulmonary infections | Respiratory failure | Respiratory tract infection | Rod-cone dystrophy | Situs inversus totalis | Transposition of the great arteries | Ventriculomegaly" ], "symptoms_ja_list": [ "ばち状化 | 両大血管右室起始症 | 中枢神経の形態異常 | 伝音難聴 | 全内臓逆位 | 動脈不定位 | 反復性マイコバクテリウム感染症 | 反復性中耳炎 | 反復性副鼻腔肺感染症 | 呼吸不全 | 呼吸器感染 | 多脾症 | 大血管転位 | 女性不妊 | 循環器系の形態異常 | 心形態の異常 | 慢性中耳炎 | 慢性副鼻腔炎 | 慢性鼻炎 | 持続性左上大静脈 | 新生児呼吸窮迫 | 気管支拡張 | 水頭症 | 泌尿生殖器異常 | 無気肺 | 無脾症 | 男性不妊 | 異常な心房配置 | 発語および言語発達遅延 | 精子運動異常 | 肺内臓錯位 | 肺静脈還流異常 | 脳室拡大 | 腸回転異常 | 色素性網膜炎 | 閉塞性肺疾患 | 難聴 | 骨格の異常 | 鼻ポリープ症 | 鼻閉" ] }, { "id": "NANDO:2200867", "label_en": "Myotubular myopathy", "label_ja": "ミオチュブラーミオパチー", "yomigana": "みおちゅぶらーみおぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_2200867", "notificationNumber": "54", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100234", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201131", "label_en": "Hereditary systemic PrP amyloidosis", "label_ja": "遺伝性全身性PrP アミロイドーシス", "yomigana": "いでんせいぜんしんせいぴーあーるぴーあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201131", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201087", "label_en": "Brittle cornea syndrome", "label_ja": "脆弱角膜症候群", "yomigana": "ぜいじゃくかくまくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201087", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal epiphysis morphology | Abnormality of hair pigmentation | Abnormality of the dentition | Arachnodactyly | Blue sclerae | Bruising susceptibility | Camptodactyly | Cleft palate | Conductive hearing impairment | Corneal dystrophy | Corneal erosion | Corneal scarring | Decreased corneal thickness | Gait disturbance | Glaucoma | Hallux valgus | Hernia | High myopia | Hip dysplasia | Hyperextensible skin | Increased susceptibility to fractures | Joint hypermobility | Keratoglobus | Mitral valve prolapse | Myalgia | Neonatal hypotonia | Osteoporosis | Pes planus | Pulmonic stenosis | Retinal detachment | Scoliosis | Sensorineural hearing impairment | Soft skin | Visual loss" ], "symptoms_ja_list": [ "くも指 | ヘルニア | 伝音難聴 | 側弯 | 僧帽弁逸脱 | 出血傾向 | 口蓋裂 | 外反母趾 | 屈指 | 感音難聴 | 扁平足 | 新生児筋緊張低下 | 易骨折性の増加 | 柔らかい皮膚 | 歩行障害 | 歯の異常 | 毛髪色素の異常 | 球状角膜 | 筋痛 | 網膜剥離 | 緑内障 | 股関節異形成 | 肺動脈狭窄 | 視力喪失 | 角膜の厚さ減少 | 角膜びらん | 角膜ジストロフィー | 角膜瘢痕 | 過伸展皮膚 | 重度近視 | 関節過動 | 青色胸膜 sclerae | 骨端の異常 | 骨粗鬆症" ] }, { "id": "NANDO:2201026", "label_en": "Beals syndrome", "label_ja": "ビールズ症候群", "yomigana": "びーるずしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201026", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormality of the musculature | Abnormally folded helix | Adducted thumb | Aortic aneurysm | Aortic root aneurysm | Arachnodactyly | Arthrogryposis multiplex congenita | Atrial septal defect | Autosomal dominant inheritance | Bicuspid aortic valve | Bowing of the long bones | Brachycephaly | Calf muscle hypoplasia | Camptodactyly | Camptodactyly of finger | Camptodactyly of toe | Congenital contracture | Congenital finger flexion contractures | Congenital kyphoscoliosis | Congenital onset | Crumpled ear | Disproportionate tall stature | Distal arthrogryposis | Dolichocephaly | Duodenal atresia | Ectopia lentis | Elbow dislocation | Elbow flexion contracture | Flexion contracture | Frontal bossing | High palate | Hip contracture | Increased upper to lower segment ratio | Intestinal malrotation | Joint stiffness | Knee flexion contracture | Kyphoscoliosis | Limited elbow extension | Limited knee extension | Metatarsus adductus | Micrognathia | Mitral regurgitation | Mitral valve prolapse | Motor delay | Myopia | Osteopenia | Patellar dislocation | Patellar subluxation | Patent ductus arteriosus | Pectus carinatum | Pectus excavatum | Scoliosis | Short neck | Slender build | Talipes equinovarus | Tracheoesophageal fistula | Ulnar deviation of finger | Ventricular septal defect | Wrist flexion contracture" ], "symptoms_ja_list": [ "くも指 | しわくちゃの耳 | はと胸 | 上節/下節比の増加 | 不均衡型高身長 | 二弁性大動脈弁 | 側弯 | 僧帽弁逆流 | 僧帽弁逸脱 | 先天性多発性関節拘縮 | 先天性後側弯 | 先天性指屈曲拘縮 | 先天性関節拘縮 | 内反尖足 | 内転中足骨 | 内転母指 | 前頭突出", "額突出 | 動脈管開存症 | 十二指腸閉鎖 | 大動脈基部拡大 | 大動脈瘤 | 小顎 | 屈指 | 屈曲拘縮 | 屈趾 | 巻き込んだ耳輪の異常 | 常染色体顕性遺伝 | 後側弯 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 手関節屈曲拘縮 | 指の尺側偏位 | 気管食道瘻 | 漏斗胸 | 異所性水晶体 | 短い頸部 | 短頭 | 筋の異常 | 細い体型 | 肘伸展制限 | 肘屈曲拘縮 | 肘脱臼 | 股関節拘縮 | 腓腹筋低形成 | 腸回転異常 | 膝伸展制限 | 膝屈曲拘縮 | 膝蓋骨亜脱臼 | 膝蓋骨脱臼 | 近視 | 運動発達遅滞 | 遠位関節拘縮 | 長管骨湾曲 | 長頭 | 関節拘縮 | 骨減少症 | 高口蓋" ] }, { "id": "NANDO:1200091", "label_en": "Type 5 Farber disease", "label_ja": "進行性神経障害型ファーバー病", "yomigana": "しんこうせいしんけいしょうがいがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200091", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201118", "label_en": "striatonigral degeneration", "label_ja": "線条体黒質変性症", "yomigana": "せんじょうたいこくしつへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201118", "notificationNumber": "17", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200869", "label_en": "Chronic recurrent multifocal osteomyelitis", "label_ja": "慢性再発性多発性骨髄炎", "yomigana": "まんせいさいはつせいたはつせいこつずいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200869", "notificationNumber": "270", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal epiphysis morphology | Abnormal metaphysis morphology | Abnormal sacroiliac joint morphology | Abnormal vertebral morphology | Acne | Anemia | Arthritis | Bone pain | Cranial nerve paralysis | Craniofacial osteosclerosis | Edema | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Fatigue | Fever | Hyperostosis | Inflammation of the large intestine | Osteolysis | Osteomyelitis | Palmoplantar pustulosis | Poor appetite | Pruritus | Psoriasiform dermatitis | Scoliosis | Skin rash | Vasculitis | Weight loss" ], "symptoms_ja_list": [ "?瘡 | CRP 上昇 | 乾癬 | 仙腸関節の異常 | 体重喪失 | 側弯 | 大腸の炎症 | 掌蹠膿疱 | 掻痒 | 浮腫 | 疲労 | 発熱 | 皮膚発疹 | 脊椎の異常 | 脳神経麻痺 | 血管炎 | 貧血 | 赤沈値上昇 | 関節炎 | 頭蓋顔面骨硬化症 | 食思不振 | 骨化過剰 | 骨幹端の異常 | 骨痛 | 骨端の異常 | 骨融解 | 骨髄炎" ] }, { "id": "NANDO:1200964", "label_en": "Congenital pulmonary vein stenosis", "label_ja": "先天性肺静脈狭窄症", "yomigana": "せんてんせいはいじょうみゃくきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200964", "notificationNumber": "313", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200346", "label_en": "Autoimmune polyendocrinopathy type 1", "label_ja": "自己免疫性多内分泌腺症候群1型", "yomigana": "じこめんえきせいたないぶんぴつせんしょうこうぐん 1がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200346", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100125", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Abnormal circulating calcium-phosphate regulating hormone concentration | Adrenal hyperplasia | Adrenal insufficiency | Alopecia | Alopecia universalis | Asplenia | Atrophic gastritis | Autoimmunity | Autosomal dominant inheritance | Autosomal recessive inheritance | Cataract | Celiac disease | Childhood onset | Cholelithiasis | Chronic active hepatitis | Chronic sinusitis | Constriction of peripheral visual field | Corneal ulceration | Decreased circulating aldosterone concentration | Decreased circulating vitamin B12 concentration | Diarrhea | Ectodermal dysplasia | Elevated circulating thyroid-stimulating hormone concentration | Enamel hypoplasia | Female hypogonadism | Graves disease | Hashimoto thyroiditis | Hepatitis | Hyperpigmentation of the skin | Hypocalcemic tetany | Hypogonadism | Hypoparathyroidism | Hypopigmented skin patches | Hypoplastic spleen | Hypothyroidism | Increased circulating cortisol level | Infantile onset | Interstitial pneumonitis | Iridocyclitis | Juvenile onset | Keratoconjunctivitis | Malabsorption | Male hypogonadism | Nail dystrophy | Nail pits | Nasal polyposis | Neonatal onset | Nephritis | Nephrocalcinosis | Opacification of the corneal stroma | Optic atrophy | Pancreatitis | Patchy alopecia | Photophobia | Pigmentary retinopathy | Premature ovarian insufficiency | Primary adrenal insufficiency | Primary testicular failure | Recurrent fungal infections | Recurrent mucocutaneous candidiasis | Recurrent oral thrush | Recurrent otitis media | Reduced visual acuity | Seizure | Sepsis | Type I diabetes mellitus | Unusual fungal nail infection | Uveitis | Vitiligo" ], "symptoms_ja_list": [ "Graves 病 | I 型糖尿病 | カルシウム-リン代謝の異常 | セリアック秒 | ビタミンB12欠乏症 | ブドウ膜炎 | 下痢 | 中心視力減少 | 低アルドステロン症 | 低カルシウム血症性テタニー | 低色素性皮膚斑 | 全禿頭 | 副甲状腺機能低下症 | 副腎不全 | 副腎過形成 | 原発性副腎不全 | 原発性精巣不全 | 反復性カビ感染症 | 反復性中耳炎 | 吸収障害 | 外胚葉形成不全 | 大脳血管の異常 | 女性性腺機能低下症 hypogonadism | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 循環性コルチゾール 値増加 | 性腺機能低下症 | 慢性副鼻腔炎 | 慢性口腔カンジダ症 | 慢性活動性肝炎 | 慢性粘膜皮膚カンジダ症 | 慢性萎縮性胃炎 | 敗血症 | 斑状禿頭 | 早発性卵巣不全 | 橋本甲状腺炎 | 歯エナメル質低形成 | 無脾症 | 爪ジストロフィー | 爪小孔 | 爪真菌症 | 甲状腺刺激ホルモン過剰症 | 甲状腺機能低下症 | 男性性腺機能低下症 | 発作 | 白内障 | 白斑 | 皮膚高色素 | 禿頭 | 羞明 | 肝炎 | 胆石症 | 脾低形成 | 腎炎 | 腎石灰化症 | 膵炎 | 自己免疫 | 色素性網膜症 | 虹彩毛様体炎 | 視神経萎縮 | 視野狭窄 | 角結膜炎 | 角膜潰瘍 | 角膜間質混濁形成 | 間質性肺臓炎 | 鼻ポリープ症" ] }, { "id": "NANDO:2200494", "label_en": "Isovaleric acidemia", "label_ja": "イソ吉草酸血症", "yomigana": "いそきっそうさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200494", "notificationNumber": "95", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormal globus pallidus morphology | Acute pancreatitis | Arrhythmia | Attention deficit hyperactivity disorder | Autosomal recessive inheritance | Bone marrow hypocellularity | Cerebellar hemorrhage | Coma | Confusion | Decreased total leukocyte count | Dehydration | Delayed speech and language development | Dysmetria | Failure to thrive | Feeding difficulties in infancy | Global developmental delay | Hyperammonemia | Hyperglycinuria | Hypocalcemia | Hypothermia | Hypotonia | Intellectual disability | Ketoacidosis | Ketonuria | Lactic acidosis | Lethargy | Metabolic acidosis | Motor delay | Pancytopenia | Renal Fanconi syndrome | Seizure | Thrombocytopenia | Tremor | Vomiting | Weight loss" ], "symptoms_ja_list": [ "ケトアシドーシス | ケトン尿 | 不整脈 | 乳酸性アシドーシス | 代謝性アシドーシス | 低カルシウム血症 | 低体温 | 体重喪失 | 全般性発達遅滞 | 嘔吐 | 小脳出血 | 常染色体潜性遺伝 | 急性膵炎 | 成長障害 (成長不全) | 振戦 | 昏睡 | 汎血球減少症 | 注意力欠陥多動性疾患 | 淡蒼球の異常 | 測定障害 | 無気力 | 発作 | 発語および言語発達遅延 | 白血球減少症 | 知的障害 | 筋緊張低下 | 脱水 | 腎性 Fanconi 症候群 | 血小板減少 | 運動発達遅滞 | 錯乱 | 食餌摂取障害 in infancy | 骨髄細胞数増多 | 高アンモニア血症 | 高グリシン尿" ] }, { "id": "NANDO:2200372", "label_en": "11-β-Hydroxylase deficiency", "label_ja": "11β-水酸化酵素欠損症", "yomigana": "11べーたすいさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200372", "notificationNumber": "56", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100134", "symptoms_en_list": [ "Accelerated skeletal maturation | Acne | Adrenogenital syndrome | Alopecia | Ambiguous genitalia | Ambiguous genitalia", "female | Autosomal recessive inheritance | Clitoral hypertrophy | Congenital adrenal hyperplasia | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Decreased circulating renin concentration | Decreased testicular size | Growth abnormality | Gynecomastia | Hirsutism | Hyperpigmentation of the skin | Hypertension | Hypokalemia | Hypoplasia of the uterus | Hypoplasia of the vagina | Increased circulating ACTH level | Intracranial hemorrhage | Irregular menstruation | Isosexual precocious puberty | Long penis | Neonatal onset | Polycystic ovaries | Precocious puberty | Precocious puberty in males | Premature adrenarche | Premature pubarche | Premature thelarche | Renal salt wasting | Short stature" ], "symptoms_ja_list": [ "?瘡 | 乳房発育早発 | 低アルドステロン症 | 低カリウム血症 | 低身長 | 先天性副腎過形成 | 副腎性器症候群 | 副腎皮質性思春期早発 | 同性早発遅発 | 多嚢胞性卵巣 | 多毛 | 女性型乳房 | 子宮低形成 | 常染色体潜性遺伝 | 循環性ACTH 値増加 | 循環性コルチゾール値減少 | 循環性レニン値減少 | 思春期早発 | 性別不明の外性器 | 性別不明の外性器", "女性 | 恥毛早発 | 成長異常 | 月経不純 | 男性での思春期早発 | 皮膚高色素 | 禿頭 | 精巣サイズ減少 | 腎性塩類喪失 | 膣低形成 | 陰核肥大 | 陰茎拡大 | 頭蓋内出血 | 骨成熟促進 | 高血圧" ] }, { "id": "NANDO:1200948", "label_en": "Canavan disease", "label_ja": "カナバン病", "yomigana": "かなばんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200948", "notificationNumber": "307", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormal retinal pigmentation | Abnormality of visual evoked potentials | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Blindness | Brain atrophy | CNS demyelination | Cognitive impairment | Delayed closure of the anterior fontanelle | Developmental regression | EEG abnormality | Epileptic spasm | Feeding difficulties in infancy | Flexion contracture | Gastroesophageal reflux | Global developmental delay | Hearing impairment | Hypertonia | Hypotonia | Hypsarrhythmia | Infantile onset | Macrocephaly | Microcephaly | Multifocal epileptiform discharges | Nystagmus | Opisthotonus | Optic atrophy | Reduced consciousness | Seizure | Visual impairment" ], "symptoms_ja_list": [ "てんかん性スパスム | ヒプスアリスミア | 中枢神経脱髄 | 全般性発達遅滞 | 全身性間代性強直性発作 | 多焦点性てんかん型放電 | 大泉門閉鎖遅延 | 大頭 | 小頭 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弓反張 | 意識減少/混乱 | 発作 | 発達退行 | 盲 | 眼振 | 筋緊張亢進 | 筋緊張低下 | 網膜色素異常 | 胃食道逆流 | 脳波異常 | 脳萎縮 | 視力障害 | 視神経萎縮 | 視覚誘発電位の異常 | 認知障害 | 錐体路運動機能の異常 | 難聴 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200820", "label_en": "Multiple carboxylase deficiency", "label_ja": "複合カルボキシラーゼ欠損症", "yomigana": "ふくごうかるぼきしらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200820", "notificationNumber": "255", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201401", "label_en": "Hypothalamic hamartoma syndrome", "label_ja": "視床下部過誤腫症候群", "yomigana": "ししょうかぶかごしゅしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201401", "notificationNumber": "70", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Anterior hypopituitarism | Autosomal recessive inheritance | Chiari type I malformation | Cleft palate | Congenital onset | Death in infancy | Delayed speech and language development | Depressed nasal bridge | Focal emotional seizure with crying | Glioma | Hip dislocation | Hydrocephalus | Hypothalamic hamartoma | Macrocephaly | Median cleft upper lip | Microcephaly | Microglossia | Micrognathia | Micromelia | Micropenis | Occipital encephalocele | Postaxial foot polydactyly | Postaxial hand polydactyly | Pulmonary hypoplasia | Renal dysplasia | Short nose | Short ribs | Short stature | Skeletal dysplasia | Toe syndactyly" ], "symptoms_ja_list": [ "I 型Arnold-Chiari 奇形 | 下垂体前葉機能低下症 | 事後性多趾症 | 低身長 | 口蓋裂 | 合趾症 | 大頭 | 小肢症 | 小舌 | 小陰茎 | 小頭 | 小顎 | 常染色体潜性遺伝 | 後頭脳瘤 | 循環器系の形態異常 | 正中口唇裂 | 水頭症 | 流涙啼泣発作 | 発語および言語発達遅延 | 短い肋骨 | 短い鼻 | 股関節脱臼 | 肺低形成 | 腎異形成 | 膠腫 | 落ちくぼんだ鼻梁 | 視床下部過誤腫 | 軸後性多指症 | 骨格異形成" ] }, { "id": "NANDO:2100273", "label_en": "Intractable pancreatitis", "label_ja": "難治性膵炎", "yomigana": "なんじせいすいえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100273", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200258", "label_en": "Giant cell arteritis", "label_ja": "巨細胞性動脈炎", "yomigana": "きょさいぼうせいどうみゃくえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200258", "notificationNumber": "41", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal aortic aneurysm | Abdominal pain | Abnormal pleura morphology | Abnormality of thrombocytes | Alopecia | Amaurosis fugax | Anemia | Anorexia | Aortic dissection | Arrhythmia | Arterial thrombosis | Arthralgia | Arthritis | Ataxia | Autosomal dominant inheritance | Blindness | Cerebral ischemia | Conductive hearing impairment | Cough | Depression | Diabetes insipidus | Diplopia | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | Dysarthria | Elevated circulating C-reactive protein concentration | Elevated circulating alpha-globulin concentration | Elevated erythrocyte sedimentation rate | Epistaxis | Fatigue | Fever | Gangrene | Gastrointestinal infarctions | Glossitis | Headache | Hearing impairment | Hematuria | Hepatic failure | Hyperfibrinogenemia | Hyperhidrosis | Impaired mastication | Joint stiffness | Mediastinal lymphadenopathy | Meningitis | Muscle weakness | Myalgia | Nystagmus | Ophthalmoparesis | Optic atrophy | Paresthesia | Pericarditis | Peripheral neuropathy | Polyarticular arthritis | Ptosis | Recurrent pharyngitis | Renal insufficiency | Retinal arteritis | Scalp tenderness | Skin ulcer | Sudden cardiac death | Vasculitis | Vertigo | Visual field defect | Visual hallucination | Visual impairment | Visual loss | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | αグロブリン増加 | うつ | 一過性黒内障 | 不整脈 | 伝音難聴 | 体重喪失 | 動脈血栓症 | 反復性咽頭炎 | 咀嚼こんな | 壊疽 | 外層 | 多汗 | 多関節関節炎 | 大動脈解離 | 大脳虚血 | 尿崩症 | 常染色体顕性遺伝 | 心外膜炎 | 感覚異常 | 末梢神経ニューロパチー | 構音障害 | 疲労 | 発熱 | 皮膚潰瘍 | 盲 | 眩暈 | 眼振 | 眼瞼下垂 | 眼筋不全麻痺 | 禿頭 | 突然心臓死 | 筋痛 | 筋虚弱 | 網膜動脈炎 | 縦隔リンパ節腫大 | 肝不全 | 肺動脈弁狭窄のない肺動脈弁下心室中隔欠損を伴う両大血管右室起始症 | 胃腸梗塞 | 胸膜の異常 | 腎不全 | 腹痛 | 腹部大動脈拡張 | 舌炎 | 血小板の異常 | 血尿 | 血管炎 | 複視 | 視力喪失 | 視力障害 | 視神経萎縮 | 視覚的幻覚 | 視野障害 | 貧血 | 赤沈値上昇 | 運動失調 | 関節拘縮 | 関節炎 | 関節痛 | 難聴 | 頭痛 | 頭皮過敏性 | 食思不振 | 髄膜炎 | 高フィブリノーゲン血症 | 鼻出血" ] }, { "id": "NANDO:2200500", "label_en": "Multiple carboxylase deficiency", "label_ja": "複合カルボキシラーゼ欠損症", "yomigana": "ふくごうかるぼきしらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200500", "notificationNumber": "105", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201020", "label_en": "Hepatic glycogen storage disease type IX", "label_ja": "肝型糖原病IX型", "yomigana": "かんがたとうげんびょう9がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201020", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200693", "label_en": "Aplastic anemia", "label_ja": "再生不良性貧血", "yomigana": "さいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200693", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100201", "symptoms_en_list": [ "Aplastic anemia | Bone marrow hypocellularity" ], "symptoms_ja_list": [ "再生不良性貧血 | 骨髄細胞数増多" ] }, { "id": "NANDO:1201091", "label_en": "Periodontal Ehlers-Danlos syndrome", "label_ja": "歯周型エーラス・ダンロス症候群", "yomigana": "ししゅうがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201091", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Agenesis of permanent teeth | Atrophic scars | Atrophy of alveolar ridges | Gingival overgrowth | Hyperextensible skin | Hypermelanotic macule | Joint hypermobility | Microdontia | Micrognathia | Periodontitis | Premature loss of primary teeth | Short stature" ], "symptoms_ja_list": [ "メラニン増加性斑 | 低身長 | 小歯 | 小顎 | 早発性乳歯喪失 | 歯周炎 | 歯槽隆起萎縮 | 歯肉過成長 | 永久歯無発生 | 萎縮性瘢痕 | 過伸展皮膚 | 関節過動" ] }, { "id": "NANDO:2200740", "label_en": "Caspase-8 deficiency", "label_ja": "カスペース8欠損症", "yomigana": "かすぺーす8けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200740", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Asthma | Autosomal recessive inheritance | Chronic diarrhea | Decreased T cell activation | Decreased circulating IgA concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Defective B cell activation | Eczematoid dermatitis | Failure to thrive | Lymphadenopathy | Pneumonia | Recurrent herpes | Recurrent sinopulmonary infections | Short stature | Splenomegaly" ], "symptoms_ja_list": [ "B 細胞活性化障害 | IgA欠乏症 | IgG欠乏症 | IgM欠乏症 | T 細胞活性化の減少 | ヘルペスウイルスへの感受性 | リンパ節腫大 | 低身長 | 反復性副鼻腔肺感染症 | 喘息 | 常染色体潜性遺伝 | 慢性下痢 | 成長障害 (成長不全) | 湿疹 | 肺炎 | 脾腫" ] }, { "id": "NANDO:2200655", "label_en": "Essential thrombocythemia", "label_ja": "本態性血小板血症", "yomigana": "ほんたいせいけっしょうばんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200655", "notificationNumber": "49", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100194", "symptoms_en_list": [ "Abnormal bleeding | Abnormal bone marrow cell morphology | Abnormal cerebral vascular morphology | Abnormal platelet morphology | Abnormality of thrombocytes | Acute leukemia | Amaurosis fugax | Arterial thrombosis | Bruising susceptibility | Chest pain | Fatigue | Headache | Increased megakaryocyte count | Increased total leukocyte count | Insomnia | Migraine | Myelodysplasia | Myelofibrosis | Myocardial infarction | Paresthesia | Prolonged bleeding time | Splenomegaly | Thrombocytosis | Transient ischemic attack | Venous thrombosis | Vertigo | Visual impairment" ], "symptoms_ja_list": [ "一過性虚血発作 | 一過性黒内障 | 不眠 | 偏頭痛 | 共通 | 出血傾向 | 動脈血栓症 | 大脳血管の異常 | 巨核球数増加 | 心筋梗塞 | 急性白血病 | 感覚異常 | 異常な出血 | 疲労 | 白血球増多症 | 眩暈 | 脾腫 | 血小板の異常 | 血小板増多症 | 血小板形態の異常 | 視力障害 | 遷出血時間遷延 | 静脈血栓症 | 頭痛 | 骨髄異形成 | 骨髄細胞形態の異常 | 骨髄線維症" ] }, { "id": "NANDO:2200771", "label_en": "MCM4 mutation", "label_ja": "MCM4遺伝子異常症", "yomigana": "えむしーえむ4いでんしいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200771", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100208", "symptoms_en_list": [ "Adrenal insufficiency | Adrenocorticotropic hormone excess | Autosomal recessive inheritance | Caesarean section | Failure to thrive | Hepatomegaly | Hyperpigmentation of the skin | Intrauterine growth retardation | Lymphadenopathy | Lymphoproliferative disorder | Microcephaly | Mild global developmental delay | Postnatal growth retardation | Recurrent respiratory infections | Recurrent viral infections | Respiratory failure | Respiratory insufficiency | Short stature | Splenomegaly" ], "symptoms_ja_list": [ "リンパ増殖性疾患 | リンパ節腫大 | 低身長 | 副腎不全 | 副腎皮質刺激ホルモン過剰 | 反復性ウイルス感染症 | 反復性呼吸器感染症 | 呼吸不全 | 子宮内成長遅滞 | 小頭 | 帝王切開 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 生後の成長遅滞 | 皮膚高色素 | 肝腫 | 脾腫 | 軽度の全般性発達遅滞" ] }, { "id": "NANDO:1201006", "label_en": "Gelatinous drop-like corneal dystrophy", "label_ja": "膠様滴状角膜ジストロフィー", "yomigana": "こうようてきじょうかくまくじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1201006", "notificationNumber": "332", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Autosomal recessive inheritance | Blepharospasm | Blurred vision | Central opacification of the cornea | Childhood onset | Conjunctival amyloidosis | Corneal dystrophy | Corneal neovascularization | Epiphora | Ocular pain | Photophobia | Reduced visual acuity | Subepithelial corneal opacities | Visual impairment" ], "symptoms_ja_list": [ "上皮下角膜混濁 | 中心視力減少 | 中心角膜石灰化 | 常染色体潜性遺伝 | 流涙の増加 | 眼痛 | 眼瞼スパスム | 結膜アミロイドーシス | 羞明 | 視力障害 | 視力障害(霧視、かすみ目) | 角膜ジストロフィー | 角膜血管新生" ] }, { "id": "NANDO:1200051", "label_en": "Ataxia-oculomotor apraxia type 1", "label_ja": "アプラタキシン欠損症", "yomigana": "あぷらたきしんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200051", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of the nervous system | Adult onset | Areflexia | Ataxia | Autosomal recessive inheritance | Cerebellar atrophy | Childhood onset | Chorea | Cognitive impairment | Decreased number of large peripheral myelinated nerve fibers | Dementia | Distal amyotrophy | Distal sensory impairment | Dysarthria | Dystonia | Elevated circulating creatine kinase activity | Gait ataxia | Gait disturbance | Gaze-evoked nystagmus | Hypercholesterolemia | Hypoalbuminemia | Hypometric saccades | Hyporeflexia | Impaired distal vibration sensation | Juvenile onset | Limb ataxia | Loss of ambulation | Medial flaring of the eyebrow | Mental deterioration | Muscle weakness | Oculomotor apraxia | Peripheral axonal degeneration | Peripheral neuropathy | Pes cavus | Progressive external ophthalmoplegia | Scoliosis | Tremor | Truncal ataxia" ], "symptoms_ja_list": [ "Dementia | ジストニア | 体幹失調 | 側弯 | 凹足 | 反射低下 | 四肢失調 | 大きな末梢有髄神経線維数の減少 | 小脳萎縮 | 常染色体潜性遺伝 | 振戦 | 末梢神経ニューロパチー | 末梢神経軸索変性 | 構音障害 | 歩行失調 | 歩行障害 | 注視誘発性眼振 | 測定過少性サッケード (断続性運動) | 無反射 | 眉毛の内側フレア | 眼球運動失行症 | 知能悪化 | 神経系の異常 | 筋虚弱 | 舞踏病 | 血清 creatine phosphokinase上昇 | 認知障害 | 進行性外眼筋麻痺 | 進行性歩行不安定 | 運動失調 | 遠位感覚障害 | 遠位振動覚障害 | 遠位筋萎縮 | 高アルブミン血症 | 高コレステロール血症" ] }, { "id": "NANDO:1200148", "label_en": "Intermediate severe Salla disease", "label_ja": "中間型遊離シアル酸蓄積症", "yomigana": "ちゅうかんがたゆうりしあるさんちくせきしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200148", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200790", "label_en": "Tyrosinemia type 3", "label_ja": "高チロシン血症3型", "yomigana": "こうちろしんけっしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200790", "notificationNumber": "243", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "4-Hydroxyphenylpyruvic aciduria | 4-hydroxyphenylacetic aciduria | Autosomal recessive inheritance | Elevated circulating hepatic transaminase concentration | Global developmental delay | Hypertyrosinemia | Infantile onset | Mild intellectual disability | Neonatal onset | Seizure | Severe intellectual disability" ], "symptoms_ja_list": [ "4-ヒドロキシフェニルピルビン酸尿 | 4-ヒドロキシフェニル酢酸尿 | 全般性発達遅滞 | 常染色体潜性遺伝 | 発作 | 知的障害", "軽度 | 知的障害", "重度 | 肝トランスアミナーゼ上昇 | 高チロシン血症" ] }, { "id": "NANDO:2100233", "label_en": "Muscular dystrophy", "label_ja": "筋ジストロフィー", "yomigana": "きんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2100233", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201314", "label_en": "Crouzon disease (lambdoid synostosis)", "label_ja": "クルーゾン病（人字縫合）", "yomigana": "くるーぞんびょう（じんじほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201314", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200806", "label_en": "Argininosuccinic aciduria", "label_ja": "アルギニノコハク酸尿症", "yomigana": "あるぎにのこはくさんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200806", "notificationNumber": "251", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal hair quantity | Aminoaciduria | Arrhythmia | Ataxia | Attention deficit hyperactivity disorder | Autosomal recessive inheritance | Brittle hair | Carious teeth | Cerebral edema | Chronic pancreatitis | Cirrhosis | Coma | Delayed speech and language development | Diarrhea | Drowsiness | Dry hair | Dystonia | EEG abnormality | Eczematoid dermatitis | Elevated circulating hepatic transaminase concentration | Elevated plasma citrulline | Episodic ammonia intoxication | Failure to thrive | Feeding difficulties in infancy | Focal T2 hyperintense basal ganglia lesion | Global brain atrophy | Global developmental delay | Hepatic failure | Hepatic fibrosis | Hepatocellular carcinoma | Hepatomegaly | Hyperammonemia | Hyperglutaminemia | Hypertension | Hypertriglyceridemia | Hypoargininemia | Hypokalemia | Intellectual disability | Irritability | Lethargy | Motor delay | Muscle weakness | Neonatal onset | Neurodevelopmental delay | Oroticaciduria | Patchy alopecia | Periventricular leukomalacia | Pili torti | Protein avoidance | Psychosis | Renal insufficiency | Respiratory alkalosis | Seizure | Self-mutilation | Specific learning disability | Tachypnea | Thrombocytosis | Tremor | Trichorrhexis nodosa | Vomiting" ], "symptoms_ja_list": [ "アミノ酸尿 | アンモニア中毒エピソード | オロチン酸尿 | ジストニア | 下痢 | 不整脈 | 乾いた毛髪 | 低アルギニン血症 | 低カリウム血症 | 全般性発達遅滞 | 全般性脳萎縮 | 嘔吐 | 多呼吸 | 大脳浮腫 | 巣状 T2 高輝度基底核病変 | 常染色体潜性遺伝 | 慢性膵炎 | 成長障害 (成長不全) | 振戦 | 捻転毛 | 斑状禿頭 | 昏睡 | 注意力欠陥多動性疾患 | 活性減少アルカローシス | 湿疹 | 無気力 | 特異的学習障害 | 異常な毛髪量 | 発作 | 発語および言語発達遅延 | 眠気 | 知的障害 | 神経発生遅延 | 筋虚弱 | 精神病 | 結節性裂毛症 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝硬変 | 肝細胞癌 | 肝線維症 | 肝腫 | 脆い毛髪 | 脳室周囲白質軟化症 | 脳波異常 | 腎不全 | 自己切断 | 蛋白回避 | 血小板増多症 | 血漿シトルリン上昇 | 被刺激性 | 運動失調 | 運動発達遅滞 | 食餌摂取障害 in infancy | 高アンモニア血症 | 高グルタミン血症 | 高トリグリセリド血症 | 高血圧 | 齲歯" ] }, { "id": "NANDO:2200889", "label_en": "Congenital herpes simplex virus infection", "label_ja": "先天性ヘルペスウイルス感染症", "yomigana": "せんてんせいへるぺすういるすかんせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200889", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100243", "symptoms_en_list": [ "Hydranencephaly | Intrauterine growth retardation | Microcephaly | Premature birth" ], "symptoms_ja_list": [ "子宮内成長遅滞 | 小頭 | 早産 | 水無脳症" ] }, { "id": "NANDO:1200560", "label_en": "Septo-optic dysplasia / De Morsier syndrome", "label_ja": "中隔視神経形成異常症／ドモルシア症候群", "yomigana": "ちゅうかくししんけいけいせいいじょうしょう/どもるしあしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200560", "notificationNumber": "134", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormality of the hypothalamus-pituitary axis | Absent septum pellucidum | Agenesis of corpus callosum | Anosmia | Anterior pituitary hypoplasia | Aplasia/Hypoplasia of the cerebellum | Autism | Autosomal dominant inheritance | Autosomal recessive inheritance | Cleft palate | Constipation | Cryptorchidism | Decreased response to growth hormone stimulation test | Diabetes insipidus | Dry skin | Esophageal atresia | Fatigue | Global developmental delay | Hemiplegia/hemiparesis | Hypohidrosis | Hypoplasia of penis | Intellectual disability | Maternal diabetes | Nystagmus | Obesity | Optic disc hypoplasia | Optic nerve hypoplasia | Polydactyly | Polydipsia | Seizure | Sensorineural hearing impairment | Septo-optic dysplasia | Short finger | Short stature | Sleep disturbance | Strabismus | Tracheoesophageal fistula | Visual impairment" ], "symptoms_ja_list": [ "下垂体前葉低形成 | 中隔視神経異形成 | 乾いた皮膚 | 低身長 | 便秘 | 停留精巣 | 全般性発達遅滞 | 口蓋裂 | 多指趾症 | 多飲 | 小脳無形成/低形成 | 尿崩症 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 循環器系の形態異常 | 感音難聴 | 成長ホルモン欠乏症 | 斜視 | 母体糖尿病 | 気管食道瘻 | 減汗症 | 無嗅覚 | 片麻痺/片側不全麻痺 | 疲労 | 発作 | 眼振 | 睡眠障害 | 知的障害 | 短い指 | 肥満 | 脳梁無発生 of | 自閉症 | 視力障害 | 視床下部-下垂体軸異常 | 視神経低形成 | 視神経杯低形成 | 透明中隔欠損 | 陰茎低形成 | 食道閉鎖" ] }, { "id": "NANDO:2200583", "label_en": "Sulfite oxidase deficiency", "label_ja": "亜硫酸酸化酵素欠損症", "yomigana": "ありゅうさんさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200583", "notificationNumber": "24", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100167", "symptoms_en_list": [ "Absent speech | Agitation | Ataxia | Autosomal recessive inheritance | Axial hypotonia | Bilateral tonic-clonic seizure | Cerebellar hypoplasia | Cerebral atrophy | Cerebral visual impairment | Choreoathetosis | Death in infancy | Decreased urinary sulfate | Deeply set eye | Delayed eruption of teeth | Dyskinesia | Ectopia lentis | Eczematoid dermatitis | Elevated circulating creatine kinase activity | Episodic vomiting | Fine hair | Floppy infant | Generalized dystonia | Generalized hypotonia | Global developmental delay | Hemiplegia | Hypertonia | Increased urinary sulfite level | Macrotia | Metabolic acidosis | Microcephaly | Multifocal epileptiform discharges | Narrow forehead | Neonatal onset | Severe intellectual disability | Sulfite oxidase deficiency" ], "symptoms_ja_list": [ "Sulfite oxidase 欠乏症 | ジスキネジア | 不穏 | 乳児筋性筋緊張低下 | 代謝性アシドーシス | 体幹の筋緊張低下 | 全般性発達遅滞 | 全身性ジストニア | 全身性筋緊張低下 | 全身性間代性強直性発作 | 嘔吐エピソード | 多焦点性てんかん型放電 | 大耳 | 大脳萎縮 | 小脳低形成 | 小頭 | 尿中亜硫酸塩増加 | 尿中硫酸塩減少 | 常染色体潜性遺伝 | 歯萠出遅延 | 湿疹 | 片麻痺 | 狭い額 | 異所性水晶体 | 発語欠損 | 皮質性視力障害 | 知的障害", "重度 | 筋緊張亢進 | 細い毛髪 | 舞踏病アテトーゼ | 落ちくぼんだ眼 | 血清 creatine phosphokinase上昇 | 運動失調" ] }, { "id": "NANDO:1200181", "label_en": "Mitochondrial complex II deficiency", "label_ja": "複合体II欠損症", "yomigana": "ふくごうたい2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200181", "notificationNumber": "21", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200557", "label_en": "Alexander disease type III", "label_ja": "中間型アレキサンダー病", "yomigana": "ちゅうかんがたあれきさんだーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200557", "notificationNumber": "131", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200078", "label_en": "Metachromatic leukodystrophy", "label_ja": "異染性白質ジストロフィー", "yomigana": "いせんせいはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200078", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal duodenum morphology | Abnormal gallbladder morphology | Abnormal stomach morphology | Abnormality of visual evoked potentials | Ataxia | Atypical behavior | Bowel incontinence | Decreased nerve conduction velocity | Dementia | Developmental regression | Dysarthria | Dystonia | Emotional lability | Feeding difficulties | Floppy infant | Frequent falls | Gait disturbance | Gastrostomy tube feeding in infancy | Hearing impairment | Hemobilia | Hyporeflexia | Incoordination | Increased CSF protein concentration | Intussusception | Limb pain | Muscle spasm | Muscle weakness | Neoplasm of the gallbladder | Pain | Peripheral neuropathy | Periventricular leukomalacia | Personality changes | Progressive spasticity | Psychosis | Schizophrenia | Seizure | Tremor | Urinary incontinence | Visual impairment" ], "symptoms_ja_list": [ "Dementia | ジストニア | 乳児期の胃瘻管栄養 | 乳児筋性筋緊張低下 | 十二指腸の異常 | 協調運動障害 | 反射低下 | 四肢痛 | 性格変化 | 情動不安定 | 振戦 | 末梢神経ニューロパチー | 構音障害 | 歩行障害 | 異常な胆嚢形態 | 疼痛 | 発作 | 発達退行 | 神経活動電位の振幅減少 | 筋けいれん | 筋虚弱 | 精神病 | 統合失調症 | 胃の異常 | 胆嚢新生物 | 脳室周囲白質軟化症 | 腸重積 | 血性胆汁 | 行動異常 | 視力障害 | 視覚誘発電位の異常 | 進行性痙性 | 運動失調 | 遺尿 | 遺糞症 | 難聴 | 頻回の転倒 | 食餌摂取障害 | 髄液タンパクの増加 | 高度/補酵素活性異常" ] }, { "id": "NANDO:1200381", "label_en": "Central precocious puberty", "label_ja": "中枢性思春期早発症", "yomigana": "ちゅうすうせいししゅんきそうはつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200381", "notificationNumber": "76", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200937", "label_en": "Liver cirrhosis", "label_ja": "肝硬変症", "yomigana": "かんこうへんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200937", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100268", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200863", "label_en": "Familial Mediterranean fever", "label_ja": "家族性地中海熱", "yomigana": "かぞくせいちちゅうかいねつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200863", "notificationNumber": "266", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Acute hepatic failure | Amyloid deposition | Anxiety | Arrhythmia | Arthralgia | Arthritis | Ascites | Chest pain | Constipation | Depression | Diarrhea | Elevated erythrocyte sedimentation rate | Erysipelas | Erythema | Fatigue | Fever | Gastrointestinal infarctions | Hyperfibrinogenemia | Increased total leukocyte count | Intestinal obstruction | Irritability | Low back pain | Lymphadenopathy | Malabsorption | Meningitis | Myalgia | Myocardial infarction | Nausea and vomiting | Nephrocalcinosis | Nephropathy | Nephrotic syndrome | Oral leukoplakia | Orchitis | Osteoarthritis | Pancreatitis | Pedal edema | Pericarditis | Peritonitis | Pleuritis | Polyarticular arthritis | Poor appetite | Proteinuria | Seizure | Skin rash | Sleep disturbance | Splenomegaly | Vasculitis" ], "symptoms_ja_list": [ "うつ | アミロイドーシス | ネフローゼ症候群 | リンパ節腫大 | 下痢 | 下背部痛 | 不安 | 不整脈 | 丹毒 | 便秘 | 共通 | 口腔ロイコプラキア | 吐気と 嘔吐 | 吸収障害 | 多関節関節炎 | 心外膜炎 | 心筋梗塞 | 急性肝不全 | 浮腫 (下肢) | 疲労 | 発作 | 発熱 | 白血球増多症 | 皮膚発疹 | 睡眠障害 | 筋痛 | 精巣炎 | 紅斑 | 胃腸梗塞 | 胸膜炎 | 脾腫 | 腎症 | 腎石灰化症 | 腸閉塞 | 腹水 | 腹痛 | 腹膜炎 | 膵炎 | 蛋白尿 | 血管炎 | 被刺激性 | 赤沈値上昇 | 関節炎 | 関節痛 | 食思不振 | 骨関節炎 | 髄膜炎 | 高フィブリノーゲン血症" ] }, { "id": "NANDO:1200710", "label_en": "Double outlet right ventricle", "label_ja": "両大血管右室起始症", "yomigana": "りょうだいけっかんうしつきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200710", "notificationNumber": "216", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal external ear cartilage morphology | Aplasia/Hypoplasia of the thymus | Cleft palate | Coarctation of aorta | Cyanosis | Depressed nasal bridge | Double outlet right ventricle | Failure to thrive | Feeding difficulties | Hypertelorism | Hypocalcemia | Hypoparathyroidism | Hypoplastic left ventricle | Intestinal malrotation | Mild intellectual disability | Narrow mouth | Pulmonary artery atresia | Pulmonic stenosis | Short stature | Submucous cleft hard palate | Tachycardia | Tachypnea | Tetralogy of Fallot | Truncus arteriosus | Ventricular septal defect" ], "symptoms_ja_list": [ "Fallot 四徴症 | チアノーゼ | 両大血管右室起始症 | 両眼隔離 | 低カルシウム血症 | 低身長 | 副甲状腺機能低下症 | 口蓋裂 | 多呼吸 | 大動脈縮窄 | 左心低形成 | 心室中隔欠損 | 成長障害 (成長不全) | 狭い口 | 知的障害", "軽度 | 粘膜下硬口蓋裂 | 総動脈幹 | 肺動脈狭窄 | 肺動脈閉鎖 | 胸腺無形成/低形成 | 腸回転異常 | 落ちくぼんだ鼻梁 | 頻拍 | 食餌摂取障害" ] }, { "id": "NANDO:1200275", "label_en": "Amyopathic dermatomyositis", "label_ja": "無筋症性皮膚筋炎", "yomigana": "むきんしょうせいひふきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200275", "notificationNumber": "50", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1000001", "label_en": "Designated intractable disease", "label_ja": "指定難病", "yomigana": "していなんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1000001", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200742", "label_en": "CARD11 gain-of-function mutations", "label_ja": "CARD11機能獲得型変異", "yomigana": "しーえーあーるでぃー11きのうかくとくがたへんい", "url": "http://nanbyodata.jp/ontology/NANDO_2200742", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201526", "label_en": "Treacher Collins syndrome", "label_ja": "トリーチャーコリンズ症候群", "yomigana": "とりーちゃーこりんずしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201526", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal dental enamel morphology | Abnormal dental morphology | Abnormal facial shape | Abnormal lacrimal duct morphology | Abnormality of bone mineral density | Abnormality of the adrenal glands | Abnormality of the dentition | Abnormality of the middle ear | Abnormality of the outer ear | Abnormality of the vertebral column | Absent eyelashes | Aphasia | Atresia of the external auditory canal | Blepharospasm | Brachycephaly | Branchial fistula | Cataract | Choanal atresia | Cleft palate | Cleft upper lip | Conductive hearing impairment | Cryptorchidism | Delayed speech and language development | Dental malocclusion | Downslanted palpebral fissures | Encephalocele | Eyelid coloboma | Failure to thrive | Feeding difficulties in infancy | Frontal bossing | Global developmental delay | Glossoptosis | High palate | Hypertelorism | Hypoplasia of penis | Hypoplasia of the maxilla | Hypoplasia of the thymus | Hypoplasia of the zygomatic bone | Iris coloboma | Low anterior hairline | Malar flattening | Micrognathia | Microphthalmia | Microtia | Midface retrusion | Multiple enchondromatosis | Narrow internal auditory canal | Narrow mouth | Open bite | Patent ductus arteriosus | Posteriorly rotated ears | Preauricular hair displacement | Preauricular skin tag | Rectovaginal fistula | Respiratory insufficiency | Retrognathia | Short face | Skeletal dysplasia | Small scrotum | Strabismus | Tessier cleft | Thyroid hypoplasia | Tooth agenesis | Tracheoesophageal fistula | Visual impairment | Wide mouth | Wide nasal bridge" ], "symptoms_ja_list": [ "コロボーマ | 上口唇裂 | 上顎低形成 | 下顎後退 | 不正咬合 | 両眼隔離 | 中耳の異常 | 伝音難聴 | 低い前部毛髪線 | 停留精巣 | 全般性発達遅滞 | 前頭突出", "額突出 | 副腎異常 | 動脈管開存症 | 口蓋裂 | 呼吸不全 | 外耳の異常 | 外耳道閉鎖 | 多発性内軟骨腫症 | 失語症 | 小眼球 | 小耳 | 小顎 | 幅広い口 | 幅広い鼻梁 | 平坦な頬 | 後鼻孔閉鎖 | 循環器系の形態異常 | 成長障害 (成長不全) | 斜視 | 歯の異常 | 歯エナメル質異常 | 歯形態異常 | 歯数の減少 number of teeth | 気管食道瘻 | 涙管の異常 | 狭い内耳道 | 狭い口 | 甲状腺低形成 | 異常な顔の形 | 発語および言語発達遅延 | 白内障 | 直腸膣瘻 | 眼瞼スパスム | 眼瞼裂 | 眼瞼裂斜下 | 睫毛欠損 | 短い顔 | 短頭 | 耳介前皮膚肉柱 | 耳介後方回転 | 胸腺低形成 | 脊柱の異常 | 脳瘤 | 舌根沈下 | 視力障害 | 開放咬合 | 陰嚢低形成 | 陰茎低形成 | 頬骨未発達 | 頭髪の外側頬部への突出 | 顔面中部後退 | 顔面裂 | 食餌摂取障害 in infancy | 骨ミネラル濃度の異常 | 骨格異形成 | 高口蓋 | 鰓瘻" ] }, { "id": "NANDO:2201080", "label_en": "Intermittent maple syrup urine disease", "label_ja": "間欠型メープルシロップ尿症", "yomigana": "かんけつがためーぷるしろっぷにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201080", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200436", "label_en": "Hyper IgD syndrome", "label_ja": "高IgD症候群", "yomigana": "こうあいじーでぃーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200436", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abdominal pain | Acrocyanosis | Arthralgia | Arthritis | Ataxia | Autosomal recessive inheritance | Chronic diarrhea | Diarrhea | Elevated erythrocyte sedimentation rate | Erythema | Febrile seizure (within the age range of 3 months to 6 years) | Gastrointestinal hemorrhage | Global developmental delay | Growth delay | Headache | Hepatomegaly | Hepatosplenomegaly | Increased circulating IgA concentration | Increased total leukocyte count | Increased total neutrophil count | Infantile onset | Intestinal obstruction | Limitation of joint mobility | Lymphadenitis | Lymphadenopathy | Migraine | Myalgia | Nyctalopia | Optic disc pallor | Oral ulcer | Papule | Peritonitis | Purpura | Recurrent aphthous stomatitis | Recurrent fever | Recurrent infections | Recurrent oral thrush | Renal angiomyolipoma | Rod-cone dystrophy | Seizure | Skin rash | Splenomegaly | Urticaria | Vasculitis | Vertigo | Vomiting" ], "symptoms_ja_list": [ "IgA 値増加 | リンパ節炎 | リンパ節腫大 | 下痢 | 丘疹 | 偏頭痛 | 全般性発達遅滞 | 反復性アフタ性口内炎 | 反復性感染症 | 口腔潰瘍 | 嘔吐 | 夜盲症 | 好中球増多症 | 常染色体潜性遺伝 | 慢性下痢 | 慢性口腔カンジダ症 | 成長遅滞 | 熱性けいれん | 発作 | 発熱エピソード | 白血球増多症 | 皮膚発疹 | 眩暈 | 筋痛 | 紅斑 | 紫斑 | 肝脾腫 | 肝腫 | 肢端チアノーゼ | 胃腸出血 | 脾腫 | 腎血管筋脂肪腫 | 腸閉塞 | 腹痛 | 腹膜炎 | 色素性網膜炎 | 蕁麻疹 | 血管炎 | 視神経杯蒼白 | 赤沈値上昇 | 運動失調 | 関節炎 | 関節痛 | 関節運動制限 | 頭痛" ] }, { "id": "NANDO:2200886", "label_en": "Pantothenate kinase-associated neurodegeneration", "label_ja": "パントテン酸キナーゼ関連神経変性症", "yomigana": "ぱんとてんさんきなーぜかんれんしんけいへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200886", "notificationNumber": "97", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100241", "symptoms_en_list": [ "Abetalipoproteinemia | Abnormal pyramidal sign | Abnormal speech pattern | Abnormality of extrapyramidal motor function | Abnormality of eye movement | Acanthocytosis | Akinesia | Ataxia | Attention deficit hyperactivity disorder | Atypical behavior | Autosomal recessive inheritance | Babinski sign | Blepharospasm | Blindness | Bradykinesia | Bulbar signs | Bull's eye maculopathy | Cerebral cortical atrophy | Cerebral degeneration | Childhood onset | Chorea | Choreoathetosis | Compulsive behaviors | Craniofacial dystonia | Decreased muscle mass | Dementia | Depression | Dysarthria | Dysphagia | Dysphonia | Dystonia | Elevated circulating alkaline phosphatase concentration | Elevated circulating creatine kinase activity | Emotional lability | Eye of the tiger anomaly of globus pallidus | Eyelid apraxia | Facial grimacing | Feeding difficulties in infancy | Gait disturbance | Global brain atrophy | Global developmental delay | Hyperactivity | Hyperpigmentation of the skin | Hyperreflexia | Impaired convergence | Impulsivity | Incoordination | Infantile onset | Intellectual disability | Intention tremor | Iron accumulation in substantia nigra | Juvenile onset | Limb dystonia | Limb pain | Loss of ambulation | Mental deterioration | Motor delay | Motor tics | Myopathy | Neurodegeneration | Nyctalopia | Obsessive-compulsive trait | Optic atrophy | Orofacial dyskinesia | Osteopenia | Pallidal degeneration | Parkinsonism | Peripheral visual field loss | Phonic tics | Pigmentary retinopathy | Psychotic mentation | Rapidly progressive | Recurrent long bone fractures | Retinal degeneration | Retinal flecks | Rigidity | Rod-cone dystrophy | Saccadic smooth pursuit interruptions | Seizure | Slurred speech | Spasticity | Speech articulation difficulties | Tics | Toe extensor amyotrophy | Tremor | Urinary incontinence | Visual field defect | Visual impairment | Young adult onset" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | うつ | しかめ顔 | アルカリホスファターゼ上昇 | サッカード性滑らかな追視 | ジストニア | チック | パーキンソン症候群 | ミオパチー | 不明瞭言語 | 企図振戦 | 全般性発達遅滞 | 全般性脳萎縮 | 協調運動障害 | 反射亢進 | 口顔面ジスキネジア | 嚥下障害 | 四肢ジストニア | 四肢痛 | 多動 | 夜盲症 | 大脳変性 | 大脳皮質萎縮 | 常染色体潜性遺伝 | 強迫性形質 | 強迫性行動 | 情動不安定 | 振戦 | 有棘赤血球増加 | 末梢視野喪失 | 構音障害 | 歩行障害 | 注意力欠陥多動性疾患 | 淡蒼球の虎の眼奇形 | 淡蒼球変性 | 無βリポ蛋白血症 | 無動症 | 牛眼黄斑症 | 球症状 | 痙性 | 発作 | 発語調音困難 | 発音障害 | 皮膚高色素 | 盲 | 眼瞼スパスム | 眼瞼失行 | 眼運動の異常 | 知的障害 | 知能悪化 | 硬直 | 神経変性 | 神経学的発語障害 | 筋量減少 | 精神病的精神機能 | 網膜変性 | 網膜色素斑 | 舞踏病 | 舞踏病アテトーゼ | 色素性網膜炎 | 色素性網膜症 | 血清 creatine phosphokinase上昇 | 行動異常 | 衝動性 | 視力障害 | 視神経萎縮 | 視野障害 | 趾伸展筋萎縮 | 輻輳障害 | 進行性歩行不安定 | 運動失調 | 運動性チック | 運動発達遅滞 | 運動緩徐 | 遺尿 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 長管骨骨折 | 音性チック tics | 頭蓋顔面ジストニア | 食餌摂取障害 in infancy | 骨減少症 | 黒質内鉄沈着" ] }, { "id": "NANDO:1201042", "label_en": "Progressive familial intrahepatic cholestasis", "label_ja": "進行性家族性肝内胆汁うっ滞症", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201042", "notificationNumber": "338", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abnormality of coagulation | Abnormality of thrombocytes | Cholestasis | Cognitive impairment | Delayed skeletal maturation | Failure to thrive | Hepatomegaly | Hypocalcemia | Jaundice | Malabsorption | Neoplasm | Reduced bone mineral density | Short stature | Splenomegaly" ], "symptoms_ja_list": [ "低カルシウム血症 | 低身長 | 凝固の異常 | 吸収障害 | 成長障害 (成長不全) | 新生物 | 肝腫 | 胆汁うっ滞 | 脾腫 | 血小板の異常 | 認知障害 | 骨ミネラル濃度減少 | 骨格骨化遅延 | 黄疸" ] }, { "id": "NANDO:1200962", "label_en": "Congenital tricuspid stenosis", "label_ja": "先天性三尖弁狭窄症", "yomigana": "せんてんせいさんせんべんきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200962", "notificationNumber": "311", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Atrial septal defect | Bacterial endocarditis | Carcinoid tumor | Coarctation of aorta | Congestive heart failure | Cyanosis | Hypoplasia of right ventricle | Hypotension | Patent foramen ovale | Persistent left superior vena cava | Pulmonary arterial hypertension | Pulmonary artery atresia | Rheumatoid arthritis | Transposition of the great arteries | Tricuspid atresia | Tricuspid regurgitation | Tricuspid stenosis | Ventricular septal defect" ], "symptoms_ja_list": [ "うっ血性心不全 | カルチノイド | チアノーゼ | 三尖弁狭窄 | 三尖弁逆流 | 三尖弁閉鎖 | 低形成 of right ventricle | 低血圧 | 卵円孔開存 | 大動脈縮窄 | 大血管転位 | 心室中隔欠損 | 心房中隔欠損 | 持続性左上大静脈 | 細菌性心内膜炎 | 肺動脈閉鎖 | 肺高血圧 | 関節リウマチ" ] }, { "id": "NANDO:2200013", "label_en": "Chronic myeloid leukemia", "label_ja": "慢性骨髄性白血病", "yomigana": "まんせいこつずいせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200013", "notificationNumber": "83", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [ "Abnormal basophil morphology | Abnormal granulocyte morphology | Abnormality of blood and blood-forming tissues | Chronic myelogenous leukemia | Fatigue | Fever | Increased total leukocyte count | Myeloproliferative disorder | Ph-positive acute lymphoblastic leukemia | Poor appetite | Reduced leukocyte alkaline phosphatase | Splenomegaly | Thrombocytopenia | Thrombocytosis | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "Ph-陽性急性リンパ芽球性白血病 | 体細胞モザイク | 好塩基球の異常 | 慢性骨髄性白血病 | 疲労 | 発熱 | 白血球アルカリホスファターゼ減少 | 白血球増多症 | 脾腫 | 血小板増多症 | 血小板減少 | 血液および血液痙性組織の異常 | 顆粒球の異常 | 食思不振 | 骨髄増殖性疾患" ] }, { "id": "NANDO:2200340", "label_en": "Central hypothyroidism", "label_ja": "中枢性甲状腺機能低下症", "yomigana": "ちゅうすうせいこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200340", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200807", "label_en": "Argininemia", "label_ja": "アルギニン血症", "yomigana": "あるぎにんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200807", "notificationNumber": "251", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal speech pattern | Anorexia | Atypical behavior | Autosomal recessive inheritance | Cerebellar atrophy | Childhood onset | Cholestasis | Diaminoaciduria | EEG abnormality | Episodic vomiting | Frequent falls | Global developmental delay | Hemiplegia/hemiparesis | Hepatomegaly | Hyperactivity | Hyperammonemia | Intellectual disability | Irritability | Micronodular cirrhosis | Neonatal onset | Oroticaciduria | Portal fibrosis | Postnatal growth retardation | Progressive spastic quadriplegia | Seizure | Severe intellectual disability | Spastic gait | Spastic paraparesis | Vomiting" ], "symptoms_ja_list": [ "オロチン酸尿 | ジアミノ酸尿 | 全般性発達遅滞 | 嘔吐 | 嘔吐エピソード | 多動 | 小結節性肝硬変 | 小脳萎縮 | 常染色体潜性遺伝 | 片麻痺/片側不全麻痺 | 生後の成長遅滞 | 痙性対不全麻痺 | 痙性歩行 | 発作 | 知的障害 | 知的障害", "重度 | 神経学的発語障害 | 肝腫 | 胆汁うっ滞 | 脳波異常 | 行動異常 | 被刺激性 | 進行性痙性四肢麻痺 | 門脈線維症 | 頻回の転倒 | 食思不振 | 高アンモニア血症" ] }, { "id": "NANDO:2201110", "label_en": "Methylmalonic acidemia and homocystinuria cblF type", "label_ja": "コバラミン代謝異常 cblF", "yomigana": "こばらみんたいしゃいじょう しーびーえるえふ", "url": "http://nanbyodata.jp/ontology/NANDO_2201110", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormal facial shape | Abnormal heart morphology | Anemia | Atrial septal defect | Autosomal recessive inheritance | Childhood onset | Cleft palate | Cystathioninemia | Cystathioninuria | Decreased circulating adenosylcobalamin concentration | Decreased circulating methylcobalamin concentration | Decreased circulating vitamin B12 concentration | Decreased methionine synthase activity | Decreased total neutrophil count | Dextrocardia | Epicanthus | Failure to thrive | Feeding difficulties | Generalized hypotonia | Global developmental delay | Glossitis | Growth delay | Hepatomegaly | High palate | Homocystinuria | Hyperhomocystinemia | Hypomethioninemia | Hypotonia | Incoordination | Infantile onset | Intellectual disability | Intrauterine growth retardation | Juvenile onset | Lethargy | Low-set ears | Megaloblastic anemia | Methylmalonic acidemia | Methylmalonic aciduria | Microtia | Neonatal onset | Neurodevelopmental delay | Pancytopenia | Patent ductus arteriosus | Recurrent infections | Reduced number of intrahepatic bile ducts | Seizure | Short stature | Skin rash | Small for gestational age | Stomatitis | Talipes equinovarus | Thin upper lip vermilion | Thrombocytopenia | Tracheoesophageal fistula | Unilateral renal agenesis" ], "symptoms_ja_list": [ "アデノシルコバラミンの減少 | シスタシオニン血症 | シスタチオニン尿 | ビタミンB12欠乏症 | ホモシスチン尿 | メチオニン合成酵素活性の減少 | メチルコバラミンの減少 | メチルマロン酸尿 | メチルマロン酸血症 | 低メチオニン血症 | 低身長 | 全般性発達遅滞 | 全身性筋緊張低下 | 内反尖足 | 内眼角贅皮 | 動脈管開存症 | 協調運動障害 | 反復性感染症 | 口内炎 | 口蓋裂 | 右胸心 | 在胎月齢より小さい児 | 好中球減少症 | 子宮内成長遅滞 | 小耳 | 巨赤芽球性貧血 | 常染色体潜性遺伝 | 心形態の異常 | 心房中隔欠損 | 成長遅滞 | 成長障害 (成長不全) | 気管食道瘻 | 汎血球減少症 | 無気力 | 片側性腎無発生 | 異常な顔の形 | 発作 | 皮膚発疹 | 知的障害 | 神経発生遅延 | 筋緊張低下 | 耳介低位 | 肝内胆管数減少 | 肝腫 | 舌炎 | 薄い上口唇唇紅部 | 血小板減少 | 貧血 | 食餌摂取障害 | 高ホモシスチン血症 | 高口蓋" ] }, { "id": "NANDO:2100140", "label_en": "Disorders of sex development", "label_ja": "性分化疾患", "yomigana": "せいぶんかしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100140", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201423", "label_en": "Generalized morphea", "label_ja": "汎発性限局性強皮症", "yomigana": "はんぱつせいげんきょくせいきょうひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201423", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100304", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200307", "label_en": "Cold agglutinin disease", "label_ja": "寒冷凝集素症", "yomigana": "かんれいぎょうしゅうそしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200307", "notificationNumber": "61", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal urinary color | Arthralgia | Autoimmunity | Back pain | Diarrhea | Fatigue | Headache | Hemolytic anemia | Hepatomegaly | Lymphadenopathy | Muscle weakness | Nausea and vomiting | Pallor | Splenomegaly" ], "symptoms_ja_list": [ "リンパ節腫大 | 下痢 | 吐気と 嘔吐 | 尿色異常 | 溶血性貧血 | 疲労 | 筋虚弱 | 肝腫 | 背部痛 | 脾腫 | 自己免疫 | 蒼白 | 関節痛 | 頭痛" ] }, { "id": "NANDO:2200965", "label_en": "Down syndrome", "label_ja": "ダウン症候群", "yomigana": "だうんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200965", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal cranial suture/fontanelle morphology | Abnormality of blood and blood-forming tissues | Abnormality of immune system physiology | Abnormality of the dentition | Abnormality of the lymphatic system | Acute megakaryocytic leukemia | Aganglionic megacolon | Alzheimer disease | Amblyopia | Anal atresia | Atlantoaxial dislocation | Atlantoaxial instability | Atrial septal defect | Atrioventricular canal defect | Bilateral single transverse palmar creases | Blepharitis | Brachycephaly | Brachydactyly | Broad neck | Broad palm | Brushfield spots | Cataract | Celiac disease | Chronic constipation | Clinodactyly of the 5th finger | Complete atrioventricular canal defect | Conductive hearing impairment | Congenital onset | Decreased fertility | Delayed puberty | Delayed skeletal maturation | Depressed nasal bridge | Depressed nasal ridge | Developmental regression | Double outlet right ventricle | Downturned corners of mouth | Duodenal atresia | Duodenal stenosis | Ebstein anomaly of the tricuspid valve | Epicanthus | Flat face | Gait disturbance | Gastroesophageal reflux | Hyperthyroidism | Hypoplastic iliac wing | Hypothyroidism | Hypotonia | Impaired pain sensation | Increased total neutrophil count | Intellectual disability | Joint hypermobility | Keratoconus | Leukemia | Macroglossia | Malar flattening | Microdontia | Microtia | Myeloproliferative disorder | Myopia | Narrow mouth | Narrow palate | Nystagmus | Obesity | Open mouth | Partial anomalous pulmonary venous return | Patent ductus arteriosus | Patent foramen ovale | Polycythemia | Prematurely aged appearance | Protruding tongue | Pulmonary artery stenosis | Redundant neck skin | Renal hypoplasia/aplasia | Round ear | Sandal gap | Secundum atrial septal defect | Seizure | Shallow acetabular fossae | Short middle phalanx of the 5th finger | Short neck | Short nose | Short palm | Short stature | Single transverse palmar crease | Sparse hair | Specific learning disability | Sporadic | Strabismus | Tetralogy of Fallot | Thick lower lip vermilion | Thickened nuchal skin fold | Thrombocytopenia | Type II diabetes mellitus | Umbilical hernia | Upslanted palpebral fissure | Ventricular septal defect" ], "symptoms_ja_list": [ "Alzheimer 病 | Brushfield 斑 | Fallot 四徴症 | II 型糖尿病 | サンダルギャップ | セリアック秒 | リンパ系の異常 | 三尖弁のEbstein 奇形 | 両側性単一手掌横線 | 両大血管右室起始症 | 丸い耳 | 二次口心房中隔欠損症 | 伝音難聴 | 低身長 | 免疫系生理の異常 | 内眼角贅皮 | 円錐角膜 | 分厚い下口唇唇紅部 | 分厚い後部皮膚ヒダ | 動脈管開存症 | 十二指腸狭窄 | 十二指腸閉鎖 | 卵円孔開存 | 口角下垂 | 多血症 | 好中球増多症 | 妊孕性減少 | 孤発性 | 完全型房室管欠損 | 小歯 | 小耳 | 巨舌 | 幅広い手掌 | 幅広い頸部 | 平坦な頬 | 平坦な顔 | 弱視 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 思春期遅発 | 急性巨核球性白血病 | 慢性便秘 | 房室管欠損 | 手掌横線 | 斜視 | 早老外観 | 歩行障害 | 歯の異常 | 泉門と頭蓋骨縫合の異常 | 浅い寛骨臼窩 | 無神経節性巨大結腸 | 特異的学習障害 | 狭い口 | 狭い口蓋 | 環軸椎不安定 | 環軸椎脱臼 | 甲状腺機能亢進症 | 甲状腺機能低下症 | 疎な毛髪 | 痛覚障害 | 発作 | 発達退行 | 白内障 | 白血病 | 眼振 | 眼瞼炎 | 眼瞼裂斜上 | 知的障害 | 短い手掌 | 短い第5指中節骨 | 短い頸部 | 短い鼻 | 短指症候群 | 短頭 | 第5指弯指 | 筋緊張低下 | 肥満 | 肺動脈狭窄 | 胃食道逆流 | 腎低形成/無形成 | 腸骨翼低形成 | 臍ヘルニア | 舌挺出 | 落ちくぼんだ鼻梁 | 血小板減少 | 血液および血液痙性組織の異常 | 豊富な頸部皮膚 | 近視 | 部分的肺静脈還流異常 | 鎖肛 | 開口 | 関節過動 | 骨格骨化遅延 | 骨髄増殖性疾患" ] }, { "id": "NANDO:1200745", "label_en": "Bronchiolitis obliterans", "label_ja": "閉塞性細気管支炎", "yomigana": "へいそくせいさいきかんしえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200745", "notificationNumber": "228", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Airway obstruction | Autoimmunity | Bronchiectasis | Bronchiolitis obliterans | Cough | Dyspnea | Hypoxemia | Pneumonia | Respiratory tract infection" ], "symptoms_ja_list": [ "低酸素血症への感受性の減少 | 呼吸器感染 | 呼吸困難 | 外層 | 気管支拡張 | 肺炎 | 自己免疫 | 閉塞性細気管支炎 | 閉塞性肺疾患" ] }, { "id": "NANDO:2200551", "label_en": "Mucopolysaccharidosis type VI", "label_ja": "ムコ多糖症VI型", "yomigana": "むこたとうしょう6がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200551", "notificationNumber": "133", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal heart valve morphology | Abnormal metaphysis morphology | Anterior wedging of L1 | Anterior wedging of L2 | Arthralgia | Autosomal recessive inheritance | Avascular necrosis | Broad ribs | Caesarean section | Cardiomyopathy | Carious teeth | Cervical myelopathy | Childhood onset | Chronic constipation | Chronic otitis media | Coarse facial features | Cognitive impairment | Constrictive median neuropathy | Corneal opacity | Delayed eruption of teeth | Depressed nasal bridge | Dermatan sulfate excretion in urine | Disproportionate short-trunk short stature | Dolichocephaly | Dysostosis multiplex | Epiphyseal dysplasia | Failure to thrive | Flared iliac wing | Flexion contracture | Genu valgum | Glaucoma | Hearing impairment | Hepatomegaly | Hernia | Hip dysplasia | Hirsutism | Hydrocephalus | Hypoplasia of the odontoid process | Hypoplastic acetabulae | Hypoplastic iliac wing | Infantile onset | Inguinal hernia | Intellectual disability | Joint stiffness | Kyphoscoliosis | Kyphosis | Lumbar hyperlordosis | Macrocephaly | Macroglossia | Metaphyseal irregularity | Metaphyseal widening | Mitral regurgitation | Mitral stenosis | Mucopolysacchariduria | Opacification of the corneal stroma | Ovoid vertebral bodies | Pectus carinatum | Pneumonia | Prominent sternum | Pulmonary arterial hypertension | Pulmonic regurgitation | Recurrent upper respiratory tract infections | Restrictive ventilatory defect | Seizure | Short neck | Short stature | Sinus tachycardia | Sinusitis | Sleep apnea | Splenomegaly | Split hand | Thick lower lip vermilion | Thick nasal alae | Thickened skin | Tricuspid regurgitation | Umbilical hernia | Visual impairment" ], "symptoms_ja_list": [ "L1の前方楔 | L2の前方楔 | はと胸 | ヘルニア | ムコ多糖症 | 三尖弁逆流 | 不均衡性短躯低身長 | 低身長 | 僧帽弁狭窄 | 僧帽弁逆流 | 分厚い下口唇唇紅部 | 分厚い皮膚 | 分厚い鼻翼 | 副鼻腔炎 | 卵形椎体骨 | 反復性上気道感染症 | 収縮性正中神経ニューロパチー | 外反膝 | 多毛 | 多発性異骨症 | 大頭 | 寛骨臼低形成 | 尿中硫酸デルマタン排泄 | 屈曲拘縮 | 巨舌 | 帝王切開 | 常染色体潜性遺伝 | 幅広い肋骨 | 後側弯 | 後弯 | 循環器系の形態異常 | 心弁の異常 | 心筋症 | 慢性中耳炎 | 慢性便秘 | 成長障害 (成長不全) | 拘束性肺疾患 | 歯状突起低形成 | 歯萠出遅延 | 水頭症 | 洞性頻拍 | 無菌性壊死 | 発作 | 目立つ胸骨 | 睡眠時無呼吸 | 知的障害 | 短い頸部 | 粗な顔貌 | 緑内障 | 肝腫 | 股関節異形成 | 肺不全 | 肺炎 | 肺高血圧 | 脾腫 | 腰椎前弯 hyperlordosis | 腸骨翼フレア | 腸骨翼低形成 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 裂手 | 視力障害 | 角膜混濁 | 角膜間質混濁形成 | 認知障害 | 長頭 | 関節拘縮 | 関節痛 | 難聴 | 頚髄ミエロパチー | 骨幹端の異常 | 骨幹端不規則性 | 骨幹端拡大 | 骨端異形成 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2201077", "label_en": "BH4-responsive hyperphenylalaninemia", "label_ja": "BH4反応性高フェニルアラニン血症", "yomigana": "びーえいち4はんのうせいこうふぇにるあらにんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201077", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200045", "label_en": "Renal cell carcinoma", "label_ja": "腎細胞癌", "yomigana": "じんさいぼうがん", "url": "http://nanbyodata.jp/ontology/NANDO_2200045", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200774", "label_en": "Acatalasemia", "label_ja": "アカタラセミア", "yomigana": "あかたらせみあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200774", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Arteriosclerosis | Autosomal recessive inheritance | Gangrene | Gingival bleeding | Gingivitis | Microcytic anemia | Neoplasm of the larynx | Oral ulcer | Pain | Parkinsonism | Premature loss of permanent teeth | Reduced circulating catalase activity | Schizophrenia | Severe periodontitis | Type I diabetes mellitus | Type II diabetes mellitus | Vitiligo" ], "symptoms_ja_list": [ "I 型糖尿病 | II 型糖尿病 | カタラーゼ活性減少 | パーキンソン症候群 | 動脈硬化 | 口腔潰瘍 | 喉頭新生物 | 壊疽 | 小球性貧血 | 常染色体潜性遺伝 | 早発性永久歯喪失 | 歯肉出血 | 歯肉炎 | 疼痛 | 白斑 | 統合失調症 | 重度の歯周炎" ] }, { "id": "NANDO:1200339", "label_en": "Thymus hypoplasia", "label_ja": "胸腺低形成", "yomigana": "きょうせんていけいせい", "url": "http://nanbyodata.jp/ontology/NANDO_1200339", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal T cell physiology | Abnormal aortic arch morphology | Abnormal aortic valve morphology | Abnormal cardiovascular system morphology | Abnormal dental enamel morphology | Abnormal eyelid morphology | Abnormal facial shape | Abnormal lung lobation | Abnormal pulmonary valve morphology | Abnormal skull morphology | Abnormal thorax morphology | Abnormal thymus morphology | Abnormality of the dentition | Abnormality of the ear | Abnormality of the hand | Abnormality of the middle ear | Abnormality of the pharynx | Abnormality of the tonsils | Abnormality of the uterus | Abnormality of thrombocytes | Acne | Aganglionic megacolon | Aggressive behavior | Amblyopia | Anal atresia | Anemia | Anorectal anomaly | Anxiety | Aphasia | Arachnodactyly | Arrhinencephaly | Arthritis | Asthma | Atelectasis | Atrial septal defect | Attention deficit hyperactivity disorder | Atypical behavior | Autism | Autoimmunity | Autosomal dominant inheritance | Bifid uvula | Bipolar affective disorder | Blepharophimosis | Bowel incontinence | Bulbous nose | Carious teeth | Cataract | Choanal atresia | Cholelithiasis | Chronic otitis media | Chronic pulmonary obstruction | Cleft palate | Conductive hearing impairment | Constipation | Corneal neovascularization | Cryptorchidism | Delayed speech and language development | Depression | Double aortic arch | Downslanted palpebral fissures | Drooling | Emotional lability | Epicanthus | Esotropia | Exotropia | Failure to thrive | Feeding difficulties in infancy | Femoral hernia | Foot polydactyly | Gastroesophageal reflux | Gastrointestinal hemorrhage | Glaucoma | Global developmental delay | Hand polydactyly | Hearing impairment | Hemiparesis | Hepatic steatosis | High palate | High", "narrow palate | Hydrocele testis | Hydrocephalus | Hydronephrosis | Hypernasal speech | Hypertelorism | Hypertensive crisis | Hyperthyroidism | Hypocalcemia | Hypoparathyroidism | Hypopigmented skin patches | Hypoplasia of the thymus | Hypospadias | Hypothyroidism | Hypotonia | Immunodeficiency | Inguinal hernia | Intellectual disability | Interrupted aortic arch | Intervertebral disk degeneration | Intestinal malrotation | Intrauterine growth retardation | Joint hypermobility | Laryngomalacia | Long face | Long philtrum | Low-set ears | Malar flattening | Meningocele | Microcephaly | Micrognathia | Microphthalmia | Mild intellectual disability | Multiple renal cysts | Multiple suture craniosynostosis | Myalgia | Narrow mouth | Obesity | Open mouth | Optic atrophy | Ovarian cyst | Overfolded helix | Paranoia | Parathyroid agenesis | Parathyroid hypoplasia | Parkinsonism | Patellar dislocation | Patent ductus arteriosus | Pierre-Robin sequence | Pilonidal sinus | Platybasia | Polycystic kidney dysplasia | Polyhydramnios | Posterior embryotoxon | Prominent nasal bridge | Ptosis | Pulmonary artery atresia | Purpura | Recurrent infections | Recurrent otitis media | Recurrent pneumonia | Recurrent sinusitis | Renal dysplasia | Renal hypoplasia | Renal insufficiency | Retinal arteriolar tortuosity | Retinal vascular tortuosity | Retrognathia | Right aortic arch with mirror image branching | Schizophrenia | Sclerocornea | Scoliosis | Seborrheic dermatitis | Seizure | Short neck | Short palpebral fissure | Short philtrum | Short stature | Small earlobe | Specific learning disability | Spina bifida | Splenomegaly | Strabismus | Submucous cleft hard palate | Talipes | Talipes equinovarus | Telecanthus | Tetany | Tetralogy of Fallot | Thrombocytopenia | Tricuspid atresia | Truncus arteriosus | Turricephaly | Umbilical hernia | Underdeveloped nasal alae | Unilateral primary pulmonary dysgenesis | Unilateral renal agenesis | Upslanted palpebral fissure | Varicose veins | Velopharyngeal insufficiency | Ventricular septal defect | Vesicoureteral reflux | Wide nasal bridge" ], "symptoms_ja_list": [ "?瘡 | Fallot 四徴症 | Pierre-Robin シークェンス | T 細胞生理の異常 | うつ | くも指 | テタニー | パラノイア | パーキンソン症候群 | 三尖弁閉鎖 | 下顎後退 | 不安 | 両眼隔離 | 中耳の異常 | 二分した口蓋垂 | 二分脊椎 | 伝音難聴 | 低カルシウム血症 | 低色素性皮膚斑 | 低身長 | 便秘 | 停留精巣 | 側弯 | 免疫不全 | 全般性発達遅滞 | 内反尖足 | 内斜視 | 内眼角外方偏位 | 内眼角贅皮 | 副甲状腺低形成 | 副甲状腺機能低下症 | 副甲状腺無発生 | 動脈管開存症 | 卵巣嚢胞 | 双極性感情障害 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性感染症 | 反復性肺炎 | 口蓋帆咽頭不全 | 口蓋裂 | 咽頭の異常 | 喉頭軟化症 | 喘息 | 塔状頭 | 外斜視 | 多嚢胞性腎異形成 | 多指症 | 多発性腎嚢胞 | 多発性頭蓋骨縫合早期癒合 | 多趾症 | 大動脈弁の異常 | 大動脈弓の異常 | 大動脈弓離断 | 大腿ヘルニア | 失語症 | 子宮内成長遅滞 | 子宮異常 | 小さい耳朶 | 小眼球 | 小頭 | 小顎 | 尖足 | 尿道下裂 | 常染色体顕性遺伝 | 幅広い鼻梁 | 平坦な頬 | 弱視 | 後部胎生環 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 情動不安定 | 慢性中耳炎 | 慢性閉塞性肺疾患 | 成長障害 (成長不全) | 扁平頭蓋底 | 扁桃の異常 | 手の異常 | 攻撃的行動 | 斜視 | 椎間板変性 | 歯の異常 | 歯エナメル質異常 | 毛巣洞 | 水腎症 | 水頭症 | 注意力欠陥多動性疾患 | 流涎 | 無嗅脳症 | 無気肺 | 無神経節性巨大結腸 | 片側不全麻痺 | 片側性原発性肺異発生 | 片側性腎無発生 | 特異的学習障害 | 狭い口 | 球状の鼻 | 甲状腺機能亢進症 | 甲状腺機能低下症 | 異常な顔の形 | 発作 | 発語および言語発達遅延 | 白内障 | 目立つ鼻梁 | 眼瞼の異常 | 眼瞼下垂 | 眼瞼裂斜上 | 眼瞼裂斜下 | 眼瞼裂狭小 | 知的障害 | 知的障害", "軽度 | 短い人中 | 短い眼瞼裂 | 短い頸部 | 筋痛 | 筋緊張低下 | 粘膜下硬口蓋裂 | 紫斑 | 統合失調症 | 網膜小動脈蛇行 | 網膜血管蛇行 | 総動脈幹 | 緑内障 | 羊水過多 | 耳の異常 | 耳介低位 | 耳輪の過剰な巻き込み | 肛門直腸奇形 | 肥満 | 肺分葉の異常 | 肺動脈弁の異常 | 肺動脈閉鎖 | 胃腸出血 | 胃食道逆流 | 胆石症 | 胸腺の異常 | 胸腺低形成 | 胸郭の異常 | 脂漏性皮膚炎 | 脂肪肝 | 脾腫 | 腎不全 | 腎低形成 | 腎異形成 | 腸回転異常 | 膀胱尿管逆流 | 膝蓋骨脱臼 | 臍ヘルニア | 自己免疫 | 自閉症 | 血小板の異常 | 血小板減少 | 行動異常 | 視神経萎縮 | 角膜硬化 | 角膜血管新生 | 貧血 | 遺糞症 | 重複大動脈弓 | 鎖肛 | 鏡像分枝を伴う右大動脈弓 | 長い人中 | 長い顔 | 開口 | 関節炎 | 関節過動 | 陰嚢水腫 | 難聴 | 静脈瘤 | 頭蓋骨の異常 | 食餌摂取障害 in infancy | 髄膜瘤 | 高口蓋 | 高狭口蓋 | 高血圧クライシス | 鼠径ヘルニア | 鼻声発語 | 鼻翼未発達 | 齲歯" ] }, { "id": "NANDO:2201374", "label_en": "Bulbar myasthenia gravis", "label_ja": "球型重症筋無力症", "yomigana": "きゅうがたじゅうしょうきんむりょくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201374", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100252", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200509", "label_en": "Carnitine palmitoyltransferase I deficiency", "label_ja": "カルニチンパルミトイルトランスフェラーゼI欠損症", "yomigana": "かるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200509", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Abnormal speech pattern | Abnormality of metabolism/homeostasis | Arrhythmia | Atypical behavior | Autosomal recessive inheritance | Cardiomegaly | Childhood onset | Coma | Diarrhea | Dicarboxylic aciduria | Diminished deep tendon reflex | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Fatigue | Feeding difficulties | Generalized hypotonia | Hemiplegia/hemiparesis | Hepatic failure | Hepatic steatosis | Hepatomegaly | Hyperammonemia | Hypertrophic cardiomyopathy | Hypoglycemia | Hypoketotic hypoglycemia | Hyporeflexia | Hypotonia | Ketonuria | Lethargy | Loss of consciousness | Motor delay | Muscle weakness | Pregnancy history | Recurrent encephalopathy | Renal tubular acidosis | Seizure | Skeletal muscle atrophy | Sudden cardiac death | Transient hyperlipidemia" ], "symptoms_ja_list": [ "ケトン尿 | ジカルボン酸尿 | 一過性高脂血症 | 下痢 | 不整脈 | 代謝/ホメオスターシスの異常 | 低ケトン性低血糖 | 低血糖 | 全身性筋緊張低下 | 出生前の母体異常 | 反射低下 | 反復性脳症 | 常染色体潜性遺伝 | 心拡大 | 意識喪失 | 昏睡 | 無気力 | 片麻痺/片側不全麻痺 | 疲労 | 発作 | 神経学的発語障害 | 突然心臓死 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝腫 | 肥大型心筋症 | 脂肪肝 | 腎尿細管アシドーシス | 腱反射減少 | 血清 creatine phosphokinase上昇 | 行動異常 | 運動発達遅滞 | 食餌摂取障害 | 高アンモニア血症" ] }, { "id": "NANDO:2200020", "label_en": "Mature B-cell lymphoma", "label_ja": "成熟B細胞リンパ腫", "yomigana": "せいじゅくびーさいぼうりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200020", "notificationNumber": "86", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200872", "label_en": "Congenital scoliosis with rib anomalies", "label_ja": "肋骨異常を伴う先天性側弯症", "yomigana": "ろっこついじょうをともなうせんていせいそくわんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200872", "notificationNumber": "273", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200927", "label_en": "Neonatal hemochromatosis", "label_ja": "新生児ヘモクロマトーシス", "yomigana": "しんせいじへもくろまとーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200927", "notificationNumber": "45", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100263", "symptoms_en_list": [ "Abnormal bleeding | Abnormal localization of kidney | Abnormality of iron homeostasis | Anteverted nares | Aplasia/Hypoplasia of the nipples | Autosomal recessive inheritance | Blepharophimosis | Cholestasis | Cirrhosis | Congenital hepatic fibrosis | Congenital onset | Elevated circulating iron concentration | Hepatic failure | Hepatic fibrosis | Hepatocellular necrosis | Hypoglycemia | Increased circulating ferritin concentration | Intrauterine growth retardation | Micrognathia | Nonimmune hydrops fetalis | Oligohydramnios | Prolonged neonatal jaundice | Prominent nose | Rapidly progressive" ], "symptoms_ja_list": [ "上向きの鼻孔 | 乳頭無形成/低形成 | 低血糖 | 先天性肝線維症 | 子宮内成長遅滞 | 小顎 | 常染色体潜性遺伝 | 異常な出血 | 目立つ鼻 | 眼瞼裂狭小 | 羊水過少 | 肝不全 | 肝硬変 | 肝細胞壊死 | 肝線維症 | 胆汁うっ滞 | 腎位置異常 | 血清フェリチン増加 | 血清鉄増加 | 遷延性新生児黄疸 | 鉄ホメオスターシスの異常 | 非免疫性胎児水腫" ] }, { "id": "NANDO:2201438", "label_en": "Progressive familial intrahepatic cholestasis type 3", "label_ja": "進行性家族性肝内胆汁うっ滞症3型", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201438", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [ "Ascites | Autosomal recessive inheritance | Bile duct proliferation | Cirrhosis | Diarrhea | Elevated circulating hepatic transaminase concentration | Hepatomegaly | Increased serum bile acid concentration | Infantile onset | Intrahepatic cholestasis | Jaundice | Malabsorption | Portal fibrosis | Pruritus | Splenomegaly" ], "symptoms_ja_list": [ "下痢 | 吸収障害 | 常染色体潜性遺伝 | 掻痒 | 肝トランスアミナーゼ上昇 | 肝内胆汁うっ滞 | 肝硬変 | 肝腫 | 胆管増殖 | 脾腫 | 腹水 | 血清胆汁酸濃度の増加 | 門脈線維症 | 黄疸" ] }, { "id": "NANDO:2100099", "label_en": "Aortic arch occlusive disease", "label_ja": "大動脈弓閉塞症", "yomigana": "だいどうみゃくきゅうへいそくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100099", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201269", "label_en": "X-linked dominant protoporphyria", "label_ja": "X連鎖優性プロトポルフィリン症", "yomigana": "えっくすれんさゆうせいぷろとぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201269", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100173", "symptoms_en_list": [ "Childhood onset | Cholelithiasis | Cutaneous photosensitivity | Elevated circulating hepatic transaminase concentration | Increased erythrocyte protoporphyrin concentration | Iron deficiency anemia | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | 皮膚光線過敏症 | 肝トランスアミナーゼ上昇 | 胆石症 | 赤血球プロトポルフィリン濃度増加 | 鉄欠乏症貧血" ] }, { "id": "NANDO:2200404", "label_en": "Lipodystrophy", "label_ja": "脂肪萎縮症", "yomigana": "しぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200404", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100147", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200815", "label_en": "Erythropoietic protoporphyria", "label_ja": "赤芽球性プロトポルフィリン症", "yomigana": "せきがきゅうせいぷろとぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200815", "notificationNumber": "254", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating porphyrin concentration | Autosomal recessive inheritance | Childhood onset | Cholelithiasis | Cirrhosis | Cutaneous photosensitivity | Decreased liver function | Eczematoid dermatitis | Edema | Erythema | Hemolytic anemia | Hepatic failure | Hypertriglyceridemia | Microcytic anemia | Pruritus" ], "symptoms_ja_list": [ "ヘム生合成経路の異常 | 小球性貧血 | 常染色体潜性遺伝 | 掻痒 | 浮腫 | 湿疹 | 溶血性貧血 | 皮膚光線過敏症 | 紅斑 | 肝不全 | 肝機能低下 | 肝硬変 | 胆石症 | 高トリグリセリド血症" ] }, { "id": "NANDO:2200441", "label_en": "Adenosine deaminase 2 deficiency", "label_ja": "ADA2欠損症", "yomigana": "えーでぃーえー2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200441", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abdominal pain | Agitation | Anemia | Aphasia | Arthralgia | Arthritis | Ataxia | Autosomal recessive inheritance | Bone marrow hypocellularity | Childhood onset | Cutis marmorata | Decreased circulating immunoglobulin concentration | Decreased total leukocyte count | Decreased total lymphocyte count | Dilated cardiomyopathy | Eczematoid dermatitis | Elevated circulating C-reactive protein concentration | Elevated circulating hepatic transaminase concentration | Elevated erythrocyte sedimentation rate | Erythema nodosum | Esophageal varix | Feeding difficulties | Fever | Hashimoto thyroiditis | Headache | Hemiplegia | Hepatomegaly | Hepatosplenomegaly | Hypertension | Immunodeficiency | Increased total leukocyte count | Infantile onset | Juvenile onset | Lymphadenopathy | Lymphoproliferative disorder | Myalgia | Neonatal onset | Ophthalmoplegia | Optic atrophy | Oral ulcer | Pancytopenia | Panniculitis | Peripheral neuropathy | Portal hypertension | Purpura | Recurrent fever | Recurrent infections | Recurrent otitis media | Recurrent sinusitis | Skin rash | Skin ulcer | Splenomegaly | Stroke | Thrombocytosis | Type I diabetes mellitus | Vasculitis" ], "symptoms_ja_list": [ "CRP 上昇 | I 型糖尿病 | リンパ増殖性疾患 | リンパ球減少症 | リンパ節腫大 | 不穏 | 低ガンマグロブリン血症 | 免疫不全 | 卒中 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性感染症 | 口腔潰瘍 | 大理石皮膚 | 失語症 | 常染色体潜性遺伝 | 拡張型心筋症 | 末梢神経ニューロパチー | 橋本甲状腺炎 | 汎血球減少症 | 湿疹 | 片麻痺 | 発熱 | 発熱エピソード | 白血球増多症 | 白血球減少症 | 皮膚潰瘍 | 皮膚発疹 | 眼筋麻痺 | 筋痛 | 紫斑 | 結節性紅斑 | 肝トランスアミナーゼ上昇 | 肝脾腫 | 肝腫 | 脂肪織炎 | 脾腫 | 腹痛 | 血小板増多症 | 血管炎 | 視神経萎縮 | 貧血 | 赤沈値上昇 | 運動失調 | 門脈圧亢進 | 関節炎 | 関節痛 | 頭痛 | 食道静脈瘤 | 食餌摂取障害 | 骨髄細胞数増多 | 高血圧" ] }, { "id": "NANDO:2201365", "label_en": "Dysosteosclerosis", "label_ja": "異骨性骨硬化症", "yomigana": "いこつせいこつこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201365", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abducens palsy | Abnormal cranial nerve morphology | Abnormal dental enamel morphology | Abnormal metaphyseal trabeculation | Abnormal metaphysis morphology | Absent frontal sinuses | Absent paranasal sinuses | Aplasia/Hypoplasia of the skin | Autosomal recessive inheritance | Blindness | Broad femoral neck | Broad ribs | Cerebral calcification | Clavicular sclerosis | Coarse metaphyseal trabecularization | Craniofacial hyperostosis | Delayed closure of the anterior fontanelle | Delayed eruption of teeth | Dermal atrophy | Developmental regression | Diaphyseal undertubulation | Disproportionate short stature | Facial paralysis | Flared metaphysis | Frontal bossing | Hearing impairment | High palate | Hypertelorism | Hypoplastic vertebral bodies | Increased bone mineral density | Increased susceptibility to fractures | Intellectual disability | Irregular vertebral endplates | Macrocephaly | Micrognathia | Narrow chest | Narrow iliac wing | Natal tooth | Nystagmus | Obstructive sleep apnea | Oligodontia | Optic atrophy | Osteopenia | Parietal bossing | Platyspondyly | Premature loss of teeth | Progressive bowing of long bones | Prominent forehead | Recurrent fractures | Round face | Sclerosis of hand bone | Sclerosis of skull base | Sclerotic scapulae | Seizure | Short diaphyses | Short ribs | Short stature | Short sternum | Ventricular septal defect" ], "symptoms_ja_list": [ "不均衡型低身長 | 不規則な脊椎終板 | 両眼隔離 | 丸い顔 | 乏歯症 | 低身長 | 出産歯 | 前頭洞欠損 | 前頭突出", "額突出 | 副鼻腔欠損 | 反復性骨折 | 大泉門閉鎖遅延 | 大脳石灰化 | 大頭 | 小顎 | 常染色体潜性遺伝 | 幅広い大腿骨頸部 | 幅広い肋骨 | 心室中隔欠損 | 扁平脊椎 | 手骨硬化症 | 早発性歯喪失 | 易骨折性の増加 | 椎体骨低形成 | 歯エナメル質異常 | 歯萠出遅延 | 狭い胸郭 | 狭い腸骨翼 | 発作 | 発達退行 | 皮膚無形成/低形成 | 皮膚萎縮 | 目立つ額 | 盲 | 眼振 | 知的障害 | 短い肋骨 | 短い胸骨 | 短い骨幹 | 硬化性肩甲骨 | 第VI脳神経麻痺 | 粗い骨梁 | 脳神経の異常 | 視神経萎縮 | 進行性長管骨湾曲 | 鎖骨硬化症 | 閉塞性睡眠時無呼吸 | 難聴 | 頭蓋底硬化症 | 頭蓋顔面過骨症 | 頭頂突出 | 顔面麻痺 | 骨ミネラル濃度の増加 | 骨幹の肥厚 | 骨幹端の異常 | 骨幹端フレア | 骨幹端骨梁異常 | 骨減少症 | 高口蓋" ] }, { "id": "NANDO:2200533", "label_en": "Galactokinase deficiency", "label_ja": "ガラクトキナーゼ欠損症", "yomigana": "がらくときなーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200533", "notificationNumber": "60", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Autosomal recessive inheritance | Cataract | Failure to thrive | Feeding difficulties | Galactosuria | Hepatomegaly | Hepatosplenomegaly | Hypercholesterolemia | Hypergalactosemia | Hypergonadotropic hypogonadism | Hyperinsulinemia | Hypoglycemia | Increased intracranial pressure | Intellectual disability | Microcephaly | Motor delay | Neonatal asphyxia | Nuclear cataract | Premature birth | Premature ovarian insufficiency | Prolonged neonatal jaundice | Psychomotor deterioration | Reduced circulating complement concentration | Seizure | Sensorineural hearing impairment | Small for gestational age | Speech apraxia" ], "symptoms_ja_list": [ "ガラクトース尿 | 低血糖 | 在胎月齢より小さい児 | 小頭 | 常染色体潜性遺伝 | 感音難聴 | 成長障害 (成長不全) | 新生児仮死 | 早産 | 早発性卵巣不全 | 核白内障 | 発作 | 発語失行症 | 白内障 | 知的障害 | 精神運動発達悪化 | 肝脾腫 | 肝腫 | 補体欠乏症 | 運動発達遅滞 | 遷延性新生児黄疸 | 頭蓋内圧の増加 | 食餌摂取障害 | 高インスリン血症 | 高ガラクトース血症 | 高コレステロール血症 | 高ゴナドトロピン性性腺機能低下症 | 高度/補酵素活性異常" ] }, { "id": "NANDO:1201104", "label_en": "Idiopathic central diabetes insipidus", "label_ja": "特発性中枢性尿崩症", "yomigana": "とくはつせいちゅうすうせいにょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201104", "notificationNumber": "72", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200957", "label_en": "Weaver syndrome", "label_ja": "ウィーバー症候群", "yomigana": "うぃーばーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200957", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal fingernail morphology | Abnormal metaphysis morphology | Abnormally low-pitched voice | Absent septum pellucidum | Accelerated skeletal maturation | Atypical behavior | Autosomal dominant inheritance | Bilateral tonic-clonic seizure | Broad foot | Broad forehead | Broad thumb | Calcaneovalgus deformity | Camptodactyly | Camptodactyly of finger | Cerebellar hypoplasia | Coxa valga | Cryptorchidism | Cutis laxa | Deep philtrum | Deep-set nails | Delayed CNS myelination | Delayed speech and language development | Depressed nasal bridge | Diastasis recti | Dimple chin | Downslanted palpebral fissures | Dysarthria | Dysharmonic skeletal maturation | Epicanthus | Feeding difficulties in infancy | Fetal onset | Fine hair | Finger syndactyly | Flared femoral metaphysis | Flared humeral metaphysis | Flat occiput | Generalized hypotonia | Generalized non-motor (absence) seizure | Global developmental delay | Hoarse cry | Hoarse voice | Hydrocele testis | Hypertelorism | Hypertonia | Hypoplasia of penis | Hypoplastic iliac wing | Hypoplastic toenails | Hypotonia | Inguinal hernia | Intellectual disability | Inverted nipples | Joint contracture of the hand | Joint hypermobility | Joint stiffness | Kyphosis | Large hands | Lateral ventricle dilatation | Limited elbow extension | Limited knee extension | Long philtrum | Macrocephaly | Macrotia | Mandibular prognathia | Melanocytic nevus | Metatarsus adductus | Micrognathia | Mild intellectual disability | Overgrowth | Overlapping toe | Patent ductus arteriosus | Pes cavus | Polyphagia | Poor fine motor coordination | Posteriorly rotated ears | Postural instability | Prominent fingertip pads | Radial deviation of finger | Redundant skin | Retrognathia | Round face | Sandal gap | Scoliosis | Seizure | Short fourth metatarsal | Short ribs | Single transverse palmar crease | Slurred speech | Sparse hair | Spasticity | Strabismus | Talipes equinovarus | Tall stature | Thin nail | Toe clinodactyly | Umbilical hernia | Ventriculomegaly | Wide distal femoral metaphysis" ], "symptoms_ja_list": [ "サンダルギャップ | メラニン細胞母斑 | 上腕骨骨幹端フレア | 下顎小孔 | 下顎後退 | 下顎突出 | 不明瞭言語 | 不調和な骨年齢 | 両眼隔離 | 中枢神経髄鞘形成遅延 | 丸い顔 | 停留精巣 | 側弯 | 側脳室拡大 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性間代性強直性発作 | 内反尖足 | 内眼角贅皮 | 内転中足骨 | 凹足 | 動脈管開存症 | 合指症 | 嗄声 | 外反股 | 外反踵骨変形 | 大きな手 | 大耳 | 大腿骨骨幹端フレア | 大頭 | 姿勢不安定 | 小脳低形成 | 小顎 | 屈指 | 常染色体顕性遺伝 | 幅広い母指 | 幅広い足 | 幅広い遠位大腿骨骨幹端 | 幅広い額 | 平坦な後頭 | 弛緩性皮膚 | 弯趾 | 後弯 | 循環器系の形態異常 | 微細運動協調不全 | 手掌横線 | 手関節拘縮 | 指の橈側偏位 | 指爪の異常 | 斜視 | 構音障害 | 欠神発作 | 深い人中 | 深くセットされた爪 | 異常に低音の声 | 疎な毛髪 | 痙性 | 発作 | 発語および言語発達遅延 | 目立つ指尖パッド | 眼瞼裂斜下 | 知的障害 | 知的障害", "軽度 | 短い第4中足骨 | 短い肋骨 | 筋緊張亢進 | 筋緊張低下 | 粗い泣き声 | 細い毛髪 | 耳介後方回転 | 肘伸展制限 | 脳室拡大 | 腸骨翼低形成 | 腹直筋離開 | 膝伸展制限 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 薄い爪 | 行動異常 | 趾の重なり | 趾爪低形成 | 逆位乳頭 | 透明中隔欠損 | 過剰な皮膚 | 過成長 | 過食症 | 長い人中 | 関節拘縮 | 関節過動 | 陰嚢水腫 | 陰茎低形成 | 食餌摂取障害 in infancy | 骨幹端の異常 | 骨成熟促進 | 高身長 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200363", "label_en": "Chronic mucocutaneous candidiasis", "label_ja": "慢性皮膚粘膜カンジダ症", "yomigana": "まんせいひふねんまくかんじだしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200363", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal dental enamel morphology | Abnormal endocardium morphology | Abnormal fingernail morphology | Abnormal lip morphology | Abnormal nail morphology | Abnormal toenail morphology | Abnormal vagina morphology | Abnormality of temperature regulation | Abnormality of the eye | Abnormality of the immune system | Abnormality of the mouth | Abnormality of the skin | Abnormality of vision | Broad nail | Cheilitis | Cough | Erythema | Feeding difficulties in infancy | Hematuria | Hemoptysis | Hepatitis | Hyperkeratosis | Papule | Pruritus | Recurrent infections | Recurrent respiratory infections | Recurrent urinary tract infections | Seizure | Skin rash | Skin ulcer" ], "symptoms_ja_list": [ "丘疹 | 体温調節の異常 | 免疫系の異常 | 反復性呼吸器感染症 | 反復性尿路感染症 | 反復性感染症 | 口の異常 | 口唇の異常 | 口唇炎 | 喀血 | 外層 | 幅広い爪 | 心内膜の異常 | 指爪の異常 | 掻痒 | 歯エナメル質異常 | 爪の異常 | 発作 | 皮膚の異常 | 皮膚潰瘍 | 皮膚発疹 | 眼の異常 | 紅斑 | 肝炎 | 膣異常 | 血尿 | 視覚の異常 | 趾爪の異常 | 過角化症 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200025", "label_en": "Primary progressive multiple sclerosis", "label_ja": "一次性進行型多発性硬化症", "yomigana": "いちじせいしんこうがたたはつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200025", "notificationNumber": "13", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100217", "label_en": "Brain malformation", "label_ja": "脳形成障害", "yomigana": "のうけいせいしょうがい", "url": "http://nanbyodata.jp/ontology/NANDO_2100217", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200261", "label_en": "Truncus arteriosus communis", "label_ja": "総動脈幹遺残症", "yomigana": "そうどうみゃくかんいざんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200261", "notificationNumber": "54", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100081", "symptoms_en_list": [ "Abnormal coronary artery morphology | Abnormal facial shape | Abnormal heart morphology | Abnormal heart valve morphology | Abnormal lung lobation | Adrenocortical abnormality | Anomalous origin of one pulmonary artery from ascending aorta | Aortic regurgitation | Atrial septal defect | Cardiomegaly | Cyanosis | Hypoplasia of the thymus | Interrupted aortic arch | Intrauterine growth retardation | Patent ductus arteriosus | Persistent left superior vena cava | Pulmonary artery atresia | Pulmonary artery hypoplasia | Pulmonary artery stenosis | Pulmonary edema | Pulmonary hypoplasia | Pulmonic stenosis | Right aortic arch | Right ventricular hypertrophy | Single coronary artery origin | Tachycardia | Tachypnea | Tetralogy of Fallot | Transposition of the great arteries | Truncus arteriosus | Ventricular septal defect" ], "symptoms_ja_list": [ "1つの肺動脈の上行大動脈からの起始異常 | Fallot 四徴症 | チアノーゼ | 冠動脈の異常 | 副腎皮質異常 | 動脈管開存症 | 単一冠動脈起始 | 右大動脈弓 | 右室肥大 | 多呼吸 | 大動脈弓離断 | 大動脈逆流 | 大血管転位 | 子宮内成長遅滞 | 心室中隔欠損 | 心弁の異常 | 心形態の異常 | 心房中隔欠損 | 心拡大 | 持続性左上大静脈 | 異常な顔の形 | 総動脈幹 | 肺低形成 | 肺分葉の異常 | 肺動脈低形成 | 肺動脈狭窄 | 肺動脈閉鎖 | 肺浮腫 | 胸腺低形成 | 頻拍" ] }, { "id": "NANDO:2200694", "label_en": "X-linked severe combined immunodeficiency", "label_ja": "X連鎖重症複合免疫不全症", "yomigana": "えっくすれんさじゅうしょうふくごうめんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200694", "notificationNumber": "30", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100203", "symptoms_en_list": [ "Abnormal circulating immunoglobulin concentration | Abnormal natural killer cell physiology | Agammaglobulinemia | Chronic diarrhea | Cough | Decreased circulating IgA concentration | Decreased circulating IgE concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased total T cell count | Decreased total lymphocyte count | Diarrhea | Failure to thrive | Hepatomegaly | Hypoplasia of the thymus | Increased circulating IgG concentration | Infantile onset | Jaundice | Lymph node hypoplasia | Lymphoma | Lymphoproliferative disorder | Neonatal onset | Pneumonia | Recurrent Haemophilus influenzae infection | Recurrent bacterial infections | Recurrent bacterial meningitis | Recurrent bacterial skin infections | Recurrent cutaneous fungal infections | Recurrent fever | Recurrent fungal infections | Recurrent herpes | Recurrent mucocutaneous candidiasis | Recurrent opportunistic infections | Recurrent oral thrush | Recurrent pneumonia | Sepsis | Severe combined immunodeficiency | Severe recurrent varicella | Skin rash | X-linked recessive inheritance | obsolete Impaired lymphocyte transformation with phytohemagglutinin" ], "symptoms_ja_list": [ "IgA欠乏症 | IgE欠乏症 | IgG 値増加 | IgG欠乏症 | IgM欠乏症 | PHによるリンパ球変態障害 | T リンパ球減少症 | X連鎖潜性遺伝 | ナチュラルキラー細胞生理の異常 | ヘルペスウイルスへの感受性 | リンパ増殖性疾患 | リンパ球減少症 | リンパ節低形成 | リンパ腫 | 下痢 | 免疫グロブリン値異常 | 反復性インフルエンザ菌感染症 | 反復性カビ感染症 | 反復性日和見感染症 | 反復性皮膚カビ感染症 | 反復性細菌性皮膚感染症 | 反復性細菌性髄膜炎 | 反復性細菌感染症 | 反復性肺炎 | 外層 | 慢性下痢 | 慢性口腔カンジダ症 | 慢性粘膜皮膚カンジダ症 | 成長障害 (成長不全) | 敗血症 | 無ガンマグロブリン血症 | 発熱エピソード | 皮膚発疹 | 肝腫 | 肺炎 | 胸腺低形成 | 重症反復性水痘 | 重症複合型免疫不全 | 黄疸" ] }, { "id": "NANDO:1200551", "label_en": "Bickerstaff's brainstem encephalitis", "label_ja": "ビッカースタッフ脳幹脳炎", "yomigana": "びっかーすたっふのうかんのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200551", "notificationNumber": "128", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cranial nerve morphology | Abnormal pyramidal sign | Abnormal thalamic MRI signal intensity | Abnormality of eye movement | Abnormality of the autonomic nervous system | Acute demyelinating polyneuropathy | Anisocoria | Areflexia | Ataxia | Babinski sign | Brisk reflexes | Bulbar palsy | CNS demyelination | CSF pleocytosis | Coma | Confusion | Decreased motor nerve conduction velocity | Diminished deep tendon reflex | Diplopia | Drowsiness | Dysesthesia | Dyspnea | EEG abnormality | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | Excessive daytime somnolence | Facial palsy | Facial paralysis | Hypercapnia | Impaired proprioception | Increased CSF protein concentration | Limb muscle weakness | Mydriasis | Nystagmus | Ophthalmoplegia | Pain | Pneumonia | Ptosis | Respiratory failure | Respiratory failure requiring assisted ventilation | Respiratory tract infection | Sensory ataxia | Tetraparesis | Tetraplegia" ], "symptoms_ja_list": [ "Babinski サイン | 中枢神経脱髄 | 反射活発 | 呼吸不全 | 呼吸器感染 | 呼吸困難 | 嗜眠 | 四肢不全麻痺 | 四肢筋虚弱 | 四肢麻痺 | 固有覚障害 | 急性脱髄性ポリニューロパチー | 感覚失調 | 感覚異常 | 散瞳 | 昏睡 | 無反射 | 球麻痺 | 異常な視床MRI シグナル強度 | 疼痛 | 眠気 | 眼振 | 眼瞼下垂 | 眼筋麻痺 | 眼運動の異常 | 瞳孔左右不同症; | 筋電図: 反復性刺激への複合筋活動電位 (CMAP) の反応漸減 | 肺炎 | 脳波異常 | 脳神経の異常 | 腱反射減少 | 自律神経の異常 | 補助換気が必要な呼吸不全 | 複視 | 運動失調 | 運動神経活動電位の振幅減少 | 錐体路運動機能の異常 | 錯乱 | 顔面麻痺 | 髄液タンパクの増加 | 髄液細胞増症 | 高二酸化炭素症" ] }, { "id": "NANDO:2200287", "label_en": "Other coarctation of the aorta", "label_ja": "70から73までに掲げるもののほか、大動脈狭窄症", "yomigana": "70から73までにかかげるもののほか、だいどうみゃくきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200287", "notificationNumber": "62", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100098", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200952", "label_en": "Coffin-Lowry syndrome", "label_ja": "コフィン・ローリー症候群", "yomigana": "こふぃん・ろーりーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200952", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal dental morphology | Abnormal diaphysis morphology | Abnormal mitral valve morphology | Abnormal retinal pigmentation | Abnormal speech pattern | Abnormal tricuspid valve morphology | Abnormal vertebral body morphology | Abnormality of neuronal migration | Acrocyanosis | Advanced eruption of teeth | Anteverted nares | Aplasia/Hypoplasia of the cerebellum | Aplasia/Hypoplasia of the corpus callosum | Atonic seizure | Atypical behavior | Bifid sternum | Broad columella | Broad finger | Broad palm | Cardiomyopathy | Cataract | Cerebral cortical atrophy | Coarse facial features | Coarse hair | Conical incisor | Coxa valga | Craniofacial hyperostosis | Cutis laxa | Cutis marmorata | Decreased body weight | Delayed closure of the anterior fontanelle | Delayed eruption of teeth | Delayed skeletal maturation | Dental malocclusion | Depressed nasal bridge | Downslanted palpebral fissures | Drumstick terminal phalanges | Epicanthus | Everted lower lip vermilion | Exaggerated median tongue furrow | Feeding difficulties in infancy | Frontal bossing | Gait disturbance | Global developmental delay | Hearing impairment | High palate | Highly arched eyebrow | Hyperconvex fingernails | Hyperextensibility of the finger joints | Hypertelorism | Hypertonia | Hypodontia | Hypoplasia of the maxilla | Hypoplastic fingernail | Hypotonia | Infantile onset | Inguinal hernia | Intellectual disability | Joint hypermobility | Kyphosis | Large hands | Lumbar kyphosis | Mandibular prognathia | Metacarpal pseudoepiphysis | Microcephaly | Mitral regurgitation | Muscle weakness | Narrow iliac wing | Narrow palate | Open mouth | Optic atrophy | Pectus carinatum | Pectus excavatum | Pes planus | Postnatal growth retardation | Premature loss of teeth | Progressive spasticity | Prominent forehead | Prominent supraorbital ridges | Protruding ear | Rectal prolapse | Redundant skin | Scoliosis | Seizure | Self-injurious behavior | Sensorineural hearing impairment | Severe global developmental delay | Short chordae tendineae of the mitral valve | Short chordae tendineae of the tricuspid valve | Short distal phalanx of finger | Short metacarpal | Short nose | Short stature | Single transverse palmar crease | Skeletal muscle atrophy | Sleep apnea | Sporadic | Strabismus | Tapered finger | Telecanthus | Thick eyebrow | Thick lower lip vermilion | Thick nasal alae | Thick nasal septum | Thickened calvaria | Uterine prolapse | Ventriculomegaly | Wide mouth | Wide nose | Widely spaced teeth | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | はと胸 | ドラムスティック型末節骨 | ニューロン移動の異常 | 三尖弁の異常 | 三尖弁の短い腱索 | 上向きの鼻孔 | 上顎低形成 | 下口唇唇紅部外反 | 下顎突出 | 不正咬合 | 両眼隔離 | 二分した胸骨 | 低身長 | 体重減少 | 側弯 | 偽骨端 (中手骨) | 僧帽弁の異常 | 僧帽弁の短い腱索 | 僧帽弁逆流 | 先細りの指 | 全般性発達遅滞 | 内眼角外方偏位 | 内眼角贅皮 | 円錐型切歯 | 凸の指爪 | 分厚い下口唇唇紅部 | 分厚い眉毛 | 分厚い頭蓋冠 | 分厚い鼻中隔 | 分厚い鼻翼 | 前頭突出", "額突出 | 外反股 | 大きな手 | 大動脈弁の異常 | 大泉門閉鎖遅延 | 大理石皮膚 | 大脳皮質萎縮 | 子宮脱 | 孤発性 | 小脳無形成/低形成 | 小頭 | 幅広い口 | 幅広い手掌 | 幅広い指 | 幅広い鼻 | 幅広い鼻小柱 | 弛緩性皮膚 | 後弯 | 心筋症 | 感音難聴 | 扁平足 | 手掌横線 | 指爪低形成 | 指関節過伸展 | 斜視 | 早発性歯喪失 | 椎体骨形態異常 | 歩行障害 | 歯形態異常 | 歯萠出促進 | 歯萠出遅延 | 歯間隔離 | 減歯症 | 漏斗胸 | 狭い口蓋 | 狭い腸骨翼 | 生後の成長遅滞 | 発作 | 白内障 | 目立つ眼窩上縁 | 目立つ額 | 直腸逸脱 | 眼瞼裂斜下 | 睡眠時無呼吸 | 知的障害 | 短い中手骨 | 短い指末節骨 | 短い鼻 | 神経学的発語障害 | 筋緊張亢進 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 粗い毛髪 | 粗な顔貌 | 網膜色素異常 | 耳介聳立 | 肢端チアノーゼ | 脱力発作 | 脳室拡大 | 脳梁無形成/低形成 | 腰椎後弯 | 自傷行動 | 落ちくぼんだ鼻梁 | 行動異常 | 視神経萎縮 | 誇張された中央舌溝 | 進行性痙性 | 過剰な皮膚 | 重度の全般性発達遅滞 | 開口 | 関節過動 | 難聴 | 頭蓋顔面過骨症 | 食餌摂取障害 in infancy | 骨幹形態異常 | 骨格骨化遅延 | 高位の弓形眉毛 | 高口蓋 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200814", "label_en": "Myelomeningocele", "label_ja": "脊髄髄膜瘤", "yomigana": "せきずいずいまくりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2200814", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100215", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201094", "label_en": "Vitamin D-dependent rickets, type 3", "label_ja": "ビタミンD依存症 3型", "yomigana": "びたみんでぃーいぞんしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201094", "notificationNumber": "239", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Autosomal dominant inheritance | Bowing of the legs | Childhood onset | Decreased circulating calcifediol concentration | Decreased circulating calcitriol concentration | Elevated circulating alkaline phosphatase concentration | Elevated circulating parathyroid hormone level | Flared metaphysis | Genu varum | Growth delay | Hypocalcemia | Hypophosphatemia | Metaphyseal cupping | Osteopenia" ], "symptoms_ja_list": [ "アルカリホスファターゼ上昇 | 下肢湾曲 | 低カルシウム血症 | 低リン血症 | 内反膝 | 常染色体顕性遺伝 | 循環性副甲状腺ホルモン(PTH) 値上昇 | 成長遅滞 | 血清 calcifediol (25-hydroxycholecalciferol)低値 | 血清 calcitriol (1", "25-dihydroxycholecalciferol)低値 | 骨幹端カッピング | 骨幹端フレア | 骨減少症" ] }, { "id": "NANDO:1100004", "label_en": "Immune system disease", "label_ja": "免疫系疾患", "yomigana": "めんえきけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100004", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1100013", "label_en": "Gastrointestinal disease", "label_ja": "消化器系疾患", "yomigana": "しょうかきけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100013", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200400", "label_en": "11-β-Hydroxylase deficiency", "label_ja": "11β-水酸化酵素欠損症", "yomigana": "11べーたすいさんかこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200400", "notificationNumber": "81", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Accelerated skeletal maturation | Acne | Adrenogenital syndrome | Alopecia | Ambiguous genitalia | Ambiguous genitalia", "female | Autosomal recessive inheritance | Clitoral hypertrophy | Congenital adrenal hyperplasia | Decreased circulating aldosterone concentration | Decreased circulating cortisol level | Decreased circulating renin concentration | Decreased testicular size | Growth abnormality | Gynecomastia | Hirsutism | Hyperpigmentation of the skin | Hypertension | Hypokalemia | Hypoplasia of the uterus | Hypoplasia of the vagina | Increased circulating ACTH level | Intracranial hemorrhage | Irregular menstruation | Isosexual precocious puberty | Long penis | Neonatal onset | Polycystic ovaries | Precocious puberty | Precocious puberty in males | Premature adrenarche | Premature pubarche | Premature thelarche | Renal salt wasting | Short stature" ], "symptoms_ja_list": [ "?瘡 | 乳房発育早発 | 低アルドステロン症 | 低カリウム血症 | 低身長 | 先天性副腎過形成 | 副腎性器症候群 | 副腎皮質性思春期早発 | 同性早発遅発 | 多嚢胞性卵巣 | 多毛 | 女性型乳房 | 子宮低形成 | 常染色体潜性遺伝 | 循環性ACTH 値増加 | 循環性コルチゾール値減少 | 循環性レニン値減少 | 思春期早発 | 性別不明の外性器 | 性別不明の外性器", "女性 | 恥毛早発 | 成長異常 | 月経不純 | 男性での思春期早発 | 皮膚高色素 | 禿頭 | 精巣サイズ減少 | 腎性塩類喪失 | 膣低形成 | 陰核肥大 | 陰茎拡大 | 頭蓋内出血 | 骨成熟促進 | 高血圧" ] }, { "id": "NANDO:1201108", "label_en": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome", "label_ja": "PURA関連神経発達異常症", "yomigana": "ぴーゆーあーるえーかんれんしんけいはったついじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201108", "notificationNumber": "343", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal pinna morphology | Abnormal primary tooth morphology | Absent speech | Anteverted nares | Anxiety | Ataxia | Autosomal dominant inheritance | Broad nasal tip | Broad-based gait | CNS hypomyelination | Childhood onset | Delayed CNS myelination | Dyskinesia | Dystonia | Epicanthus | Esotropia | Exaggerated startle response | Facial asymmetry | Facial hypotonia | Feeding difficulties | Feeding difficulties in infancy | Frontal bossing | Full cheeks | Global developmental delay | Handgrip myotonia | High forehead | High palate | Hypotonia | Inability to walk | Incisor macrodontia | Infantile onset | Intellectual disability | Long face | Long palpebral fissure | Microcephaly | Myoclonus | Myopathic facies | Myopia | Neonatal hypotonia | Neonatal onset | Nystagmus | Open mouth | Prominent forehead | Respiratory distress | Respiratory insufficiency | Seizure | Severe global developmental delay | Severe muscular hypotonia | Short attention span | Strabismus | Telecanthus | Tented upper lip vermilion | Thin upper lip vermilion | Underdeveloped nasal alae | Upslanted palpebral fissure | Wide nasal bridge" ], "symptoms_ja_list": [ "ジスキネジア | ジストニア | テント状上口唇唇紅部 | ミオクローヌス | ミオパチー顔貌 | 上向きの鼻孔 | 不安 | 中枢神経髄鞘形成低下 | 中枢神経髄鞘形成遅延 | 乳歯の異常 | 全般性発達遅滞 | 内斜視 | 内眼角外方偏位 | 内眼角贅皮 | 切歯巨大歯 | 前頭突出", "額突出 | 呼吸不全 | 呼吸窮迫 | 大きな頬 | 小頭 | 常染色体顕性遺伝 | 幅広い鼻尖 | 幅広い鼻梁 | 幅広歩行 | 握手ミオトニア | 斜視 | 新生児筋緊張低下 | 歩行不能 | 発作 | 発語欠損 | 目立つ額 | 眼振 | 眼瞼裂斜上 | 知的障害 | 短い注意期間 | 筋緊張低下 | 耳介の異常 | 薄い上口唇唇紅部 | 誇張された驚愕反応 | 近視 | 運動失調 | 重度の全般性発達遅滞 | 重度筋緊張低下 | 長い眼瞼裂 | 長い顔 | 開口 | 顔面筋緊張低下 | 顔面非対称 | 食餌摂取障害 | 食餌摂取障害 in infancy | 高い額 | 高口蓋 | 鼻翼未発達" ] }, { "id": "NANDO:1200714", "label_en": "Rapidly progressive glomerulonephritis", "label_ja": "急速進行性糸球体腎炎", "yomigana": "きゅうそくしんこうせいしきゅうたいじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200714", "notificationNumber": "220", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200110", "label_en": "Maroteaux Lamy syndrome, slowly progressing form", "label_ja": "マロトー・ラミー症候群（軽症型）", "yomigana": "まろとーらみーしょうこうぐん（けいしょうがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200110", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal heart valve morphology | Abnormal metaphysis morphology | Anterior wedging of L1 | Anterior wedging of L2 | Arthralgia | Autosomal recessive inheritance | Avascular necrosis | Broad ribs | Caesarean section | Cardiomyopathy | Carious teeth | Cervical myelopathy | Childhood onset | Chronic constipation | Chronic otitis media | Coarse facial features | Cognitive impairment | Constrictive median neuropathy | Corneal opacity | Delayed eruption of teeth | Depressed nasal bridge | Dermatan sulfate excretion in urine | Disproportionate short-trunk short stature | Dolichocephaly | Dysostosis multiplex | Epiphyseal dysplasia | Failure to thrive | Flared iliac wing | Flexion contracture | Genu valgum | Glaucoma | Hearing impairment | Hepatomegaly | Hernia | Hip dysplasia | Hirsutism | Hydrocephalus | Hypoplasia of the odontoid process | Hypoplastic acetabulae | Hypoplastic iliac wing | Infantile onset | Inguinal hernia | Intellectual disability | Joint stiffness | Kyphoscoliosis | Kyphosis | Lumbar hyperlordosis | Macrocephaly | Macroglossia | Metaphyseal irregularity | Metaphyseal widening | Mitral regurgitation | Mitral stenosis | Mucopolysacchariduria | Opacification of the corneal stroma | Ovoid vertebral bodies | Pectus carinatum | Pneumonia | Prominent sternum | Pulmonary arterial hypertension | Pulmonic regurgitation | Recurrent upper respiratory tract infections | Restrictive ventilatory defect | Seizure | Short neck | Short stature | Sinus tachycardia | Sinusitis | Sleep apnea | Splenomegaly | Split hand | Thick lower lip vermilion | Thick nasal alae | Thickened skin | Tricuspid regurgitation | Umbilical hernia | Visual impairment" ], "symptoms_ja_list": [ "L1の前方楔 | L2の前方楔 | はと胸 | ヘルニア | ムコ多糖症 | 三尖弁逆流 | 不均衡性短躯低身長 | 低身長 | 僧帽弁狭窄 | 僧帽弁逆流 | 分厚い下口唇唇紅部 | 分厚い皮膚 | 分厚い鼻翼 | 副鼻腔炎 | 卵形椎体骨 | 反復性上気道感染症 | 収縮性正中神経ニューロパチー | 外反膝 | 多毛 | 多発性異骨症 | 大頭 | 寛骨臼低形成 | 尿中硫酸デルマタン排泄 | 屈曲拘縮 | 巨舌 | 帝王切開 | 常染色体潜性遺伝 | 幅広い肋骨 | 後側弯 | 後弯 | 循環器系の形態異常 | 心弁の異常 | 心筋症 | 慢性中耳炎 | 慢性便秘 | 成長障害 (成長不全) | 拘束性肺疾患 | 歯状突起低形成 | 歯萠出遅延 | 水頭症 | 洞性頻拍 | 無菌性壊死 | 発作 | 目立つ胸骨 | 睡眠時無呼吸 | 知的障害 | 短い頸部 | 粗な顔貌 | 緑内障 | 肝腫 | 股関節異形成 | 肺不全 | 肺炎 | 肺高血圧 | 脾腫 | 腰椎前弯 hyperlordosis | 腸骨翼フレア | 腸骨翼低形成 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 裂手 | 視力障害 | 角膜混濁 | 角膜間質混濁形成 | 認知障害 | 長頭 | 関節拘縮 | 関節痛 | 難聴 | 頚髄ミエロパチー | 骨幹端の異常 | 骨幹端不規則性 | 骨幹端拡大 | 骨端異形成 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2200389", "label_en": "5 alpha-reductase deficiency", "label_ja": "5α-還元酵素欠損症", "yomigana": "5あるふぁかんげんこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200389", "notificationNumber": "49", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100140", "symptoms_en_list": [ "Abnormal hair morphology | Abnormality of metabolism/homeostasis | Abnormality of the endocrine system | Abnormality of the voice | Ambiguous genitalia | Ambiguous genitalia", "male | Autosomal recessive inheritance | Bifid scrotum | Cryptorchidism | Decreased fertility | Hypoplasia of penis | Micropenis | Perineal hypospadias | Small scrotum | Urogenital sinus anomaly" ], "symptoms_ja_list": [ "二分陰嚢 | 代謝/ホメオスターシスの異常 | 会陰尿道下裂 | 停留精巣 | 内分泌系異常 | 声の異常 | 妊孕性減少 | 小陰茎 | 常染色体潜性遺伝 | 性別不明の外性器 | 性別不明の外性器", "男性 | 毛髪の異常 | 泌尿生殖洞奇形 | 陰嚢低形成 | 陰茎低形成" ] }, { "id": "NANDO:2100095", "label_en": "Absent pulmonary valve", "label_ja": "肺動脈弁欠損", "yomigana": "はいどうみゃくべんけっそん", "url": "http://nanbyodata.jp/ontology/NANDO_2100095", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201117", "label_en": "Andersen-Tawil syndrome", "label_ja": "Andersen-Tawil症候群", "yomigana": "あんだーせん・たうぃるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201117", "notificationNumber": "115", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "2-3 toe syndactyly | Abnormal T-wave | Abnormal facial shape | Abnormality of dental color | Abnormality of the dentition | Antegonial notching of mandible | Autosomal dominant inheritance | Bidirectional ventricular ectopy | Blepharophimosis | Brachydactyly | Broad forehead | Bulbous nose | Cleft palate | Clinodactyly of the 5th finger | Clinodactyly of the 5th toe | Delayed eruption of permanent teeth | Delayed skeletal maturation | Dental crowding | Depression | Dilated cardiomyopathy | Enamel hypoplasia | Episodic flaccid weakness | Facial asymmetry | Growth abnormality | Growth delay | High palate | Hypertelorism | Hyperthyroidism | Hypokalemia | Hypoplasia of the maxilla | Increased circulating aldosterone concentration | Joint hypermobility | Juvenile onset | Low-set ears | Malar flattening | Microcephaly | Micrognathia | Muscle weakness | Neurodevelopmental delay | Oligodontia | Palpitations | Periodic hyperkalemic paralysis | Periodic hypokalemic paresis | Periodic paralysis | Persistence of primary teeth | Polymorphic and polytopic ventricular extrasystoles | Preauricular pit | Premature ventricular contraction | Prolonged QT interval | Prolonged QTc interval | Prominent frontal sinuses | Renal hypoplasia | Renal tubular dysfunction | Scapular winging | Scoliosis | Seizure | Short foot | Short mandibular rami | Short metacarpal | Short metatarsal | Short palm | Short palpebral fissure | Short phalanx of finger | Short stature | Slender long bone | Small hand | Specific learning disability | Syncope | Thin upper lip vermilion | Toe syndactyly | Torsade de pointes | Triangular face | Ventricular arrhythmia | Wide nasal bridge" ], "symptoms_ja_list": [ "うつ | トルサードドポアンツ (Torsade de pointes) | 三角形の顔 | 上顎低形成 | 下顎角前切痕 | 両眼隔離 | 乏歯症 | 乳歯遺残 | 低カリウム血症 | 低身長 | 側弯 | 動悸 | 双方向性異所性心室 | 口蓋裂 | 合趾症 | 周期性低カルシウム血症性不全麻痺 | 周期性高カルシウム血症性麻痺 | 周期性麻痺 | 多形性および多源性心室性期外収縮 | 失心 | 小さい手 | 小頭 | 小顎 | 常染色体顕性遺伝 | 幅広い額 | 幅広い鼻梁 | 平坦な頬 | 弛緩性虚弱エピソード | 心室性不整脈 | 心室性期外収縮 | 心電図: T-波異常 | 成長異常 | 成長遅滞 | 拡張型心筋症 | 歯の異常 | 歯エナメル質低形成 | 歯混雑 | 歯色の異常 | 永久歯萠出遅延 | 特異的学習障害 | 球状の鼻 | 甲状腺機能亢進症 | 異常な顔の形 | 発作 | 目立つ前頭洞 | 眼瞼裂狭小 | 短い下顎枝 | 短い中手骨 | 短い中足骨 | 短い手掌 | 短い指骨 | 短い眼瞼裂 | 短い足 | 短指症候群 | 神経発生遅延 | 第2-3 合趾症 | 第5指弯指 | 第5趾弯趾 | 筋虚弱 | 細い長管骨 | 翼状肩甲骨 | 耳介低位 | 耳介前小孔 | 腎低形成 | 腎尿細管機能障害 | 薄い上口唇唇紅部 | 遷延性 QT 間隔 | 遷延性 QTc 間隔 | 関節過動 | 顔面非対称 | 骨格骨化遅延 | 高アルドステロン症 | 高口蓋" ] }, { "id": "NANDO:2201439", "label_en": "Eosinophilic esophagitis", "label_ja": "好酸球性食道炎", "yomigana": "こうさんきゅうせいしょくどうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2201439", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100210", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201187", "label_en": "Fucosidosis, milder form", "label_ja": "軽症型フコシドーシス", "yomigana": "けいしょうがたふこしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201187", "notificationNumber": "125", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200855", "label_en": "Hereditary Motor and Sensory Neuropathy", "label_ja": "遺伝性運動感覚ニューロパチー", "yomigana": "いでんせいうんどうかんかくにゅーろぱちー", "url": "http://nanbyodata.jp/ontology/NANDO_2200855", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100232", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200014", "label_en": "Chronic myelomonocytic leukemia", "label_ja": "慢性骨髄単球性白血病", "yomigana": "まんせいこつずいたんきゅうせいはっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200014", "notificationNumber": "84", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100002", "symptoms_en_list": [ "Autosomal dominant inheritance | Juvenile myelomonocytic leukemia | Typified by somatic mosaicism" ], "symptoms_ja_list": [ "体細胞モザイク | 常染色体顕性遺伝 | 若年性骨髄単球性白血病" ] }, { "id": "NANDO:2200496", "label_en": "Methylglutaconic aciduria", "label_ja": "メチルグルタコン酸尿症", "yomigana": "めちるぐるたこんさんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200496", "notificationNumber": "108", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200817", "label_en": "Lissencephaly", "label_ja": "滑脳症", "yomigana": "かつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200817", "notificationNumber": "84", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200768", "label_en": "Alpha-methylacyl-CoA racemase deficiency", "label_ja": "２-メチルアシルCoAラセマーゼ欠損症", "yomigana": "2めちるあしるこえーらせまーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200768", "notificationNumber": "234", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of the liver | Ataxia | Autosomal recessive inheritance | Cataract | Constriction of peripheral visual field | Depression | Dysarthria | Elevated circulating phytanic acid concentration | Focal-onset seizure | Hemiparesis | Hypergonadotropic hypogonadism | Hyperreflexia | Intention tremor | Migraine | Pigmentary retinopathy | Rod-cone dystrophy | Seizure | Sensorimotor neuropathy | Spasticity | Status epilepticus | Tremor | Visual impairment | Young adult onset" ], "symptoms_ja_list": [ "うつ | てんかん重積 | フィタン酸値上昇 | 企図振戦 | 偏頭痛 | 反射亢進 | 常染色体潜性遺伝 | 感覚運動ニューロパチー | 振戦 | 構音障害 | 焦点性発作 | 片側不全麻痺 | 痙性 | 発作 | 白内障 | 肝の異常 | 色素性網膜炎 | 色素性網膜症 | 視力障害 | 視野狭窄 | 運動失調 | 高ゴナドトロピン性性腺機能低下症" ] }, { "id": "NANDO:2200572", "label_en": "Free Sialic Acid Storage Disease", "label_ja": "遊離シアル酸蓄積症", "yomigana": "ゆうりしあるさんちくせきしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200572", "notificationNumber": "137", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal facial shape | Abnormal foot morphology | Abnormal pyramidal sign | Abnormal skin pigmentation | Abnormal speech pattern | Abnormality of the upper limb | Aplasia/Hypoplasia of the abdominal wall musculature | Ascites | Ataxia | Athetosis | Dysarthria | Failure to thrive in infancy | Gait disturbance | Global developmental delay | Hepatomegaly | Hydrops fetalis | Hypotonia | Intellectual disability | Iris hypopigmentation | Nephrotic syndrome | Nystagmus | Oculomotor apraxia | Proteinuria | Recurrent respiratory infections | Reduced bone mineral density | Seizure | Skeletal dysplasia | Skin ulcer | Spasticity | Splenomegaly" ], "symptoms_ja_list": [ "アテトーゼ | ネフローゼ症候群 | 上肢の異常 | 乳児期の成長障害 (成長不全) | 全般性発達遅滞 | 反復性呼吸器感染症 | 構音障害 | 歩行障害 | 異常な顔の形 | 痙性 | 発作 | 皮膚潰瘍 | 皮膚色素の異常 | 眼振 | 眼球運動失行症 | 知的障害 | 神経学的発語障害 | 筋緊張低下 | 肝腫 | 胎児水腫 | 脾腫 | 腹壁筋無形成/低形成 | 腹水 | 虹彩低色素 | 蛋白尿 | 足の異常 | 運動失調 | 錐体路運動機能の異常 | 骨ミネラル濃度減少 | 骨格異形成" ] }, { "id": "NANDO:2201132", "label_en": "Neonatal-onset carnitine palmitoyltransferase II deficiency", "label_ja": "新生児期発症型カルニチンパルミトイルトランスフェラーゼII欠損症", "yomigana": "しんせいじきはっしょうがたかるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201132", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [ "Abnormal basal ganglia morphology | Abnormal brain morphology | Abnormal foot morphology | Abnormal myocardium morphology | Abnormality of neuronal migration | Agenesis of corpus callosum | Antenatal intracerebral hemorrhage | Apnea | Arrhythmia | Autosomal recessive inheritance | Basal ganglia cysts | Bulbous nose | Cardiomegaly | Cardiomyopathy | Cataract | Cerebellar vermis hypoplasia | Cerebral calcification | Coma | Cystic renal dysplasia | Death in infancy | Decreased plasma free carnitine | Decreased plasma total carnitine | Diarrhea | Dicarboxylic aciduria | Dilated cardiomyopathy | Elbow flexion contracture | Elevated circulating creatine kinase activity | Elevated circulating creatinine concentration | Elevated circulating hepatic transaminase concentration | Elevated circulating long chain fatty acid concentration | Enlarged kidney | Feeding difficulties | Feeding difficulties in infancy | Fetal onset | Fever | Generalized hypotonia | Heart block | Hepatic calcification | Hepatic failure | Hepatic steatosis | Hepatomegaly | High forehead | High palate | High", "narrow palate | Hydrocephalus | Hydronephrosis | Hyperammonemia | Hyperlipidemia | Hypoglycemia | Hypoketotic hypoglycemia | Hypoplastic toenails | Hypotonia | Increased muscle lipid content | Increased total bilirubin | Intracerebral periventricular calcifications | Knee flexion contracture | Lethargy | Lipid accumulation in hepatocytes | Long fingers | Long toe | Long-chain dicarboxylic aciduria | Low-set ears | Macrovesicular hepatic steatosis | Metabolic acidosis | Microcephaly | Myoglobinuria | Narrow palate | Nasal congestion | Neonatal hypotonia | Neonatal respiratory distress | Nonketotic hypoglycemia | Oligohydramnios | Overfolded helix | Pachygyria | Polycystic kidney dysplasia | Polymicrogyria | Posteriorly rotated ears | Prominent forehead | Reduced tissue carnitine O-palmitoyltransferase 2 activity | Renal dysplasia | Renal insufficiency | Renal tubular epithelial necrosis | Respiratory failure | Respiratory insufficiency | Seizure | Sloping forehead | Tapered finger | Tapered toe | Tubulointerstitial nephritis | Ureteral duplication | Ventriculomegaly | Vomiting | Wide intermamillary distance" ], "symptoms_ja_list": [ "carnitine O-palmitoyltransferase 活性減少 | ジカルボン酸尿 | ニューロン移動の異常 | ミオグロビン尿 | 下痢 | 不整脈 | 代謝性アシドーシス | 低ケトン性低血糖 | 低血糖 | 先細りの指 | 先細りの趾 | 全身性筋緊張低下 | 出生前頭蓋内出血 | 呼吸不全 | 嘔吐 | 嚢胞性腎異形成 | 基底核の異常 | 基底核脳症 | 多嚢胞性腎異形成 | 多小脳回 | 大脳内脳室周囲石灰化 | 大脳石灰化 | 小脳虫部低形成 | 小頭 | 尿管重複 | 尿細管間質性腎炎 | 巨大血管性脂肪肝 | 常染色体潜性遺伝 | 幅広い乳頭間距離 | 心ブロック | 心拡大 | 心筋の異常 | 心筋症 | 急性尿細管壊死 | 拡張型心筋症 | 新生児呼吸窮迫 | 新生児筋緊張低下 | 昏睡 | 水腎症 | 水頭症 | 無呼吸 | 無気力 | 狭い口蓋 | 球状の鼻 | 発作 | 発熱 | 白内障 | 目立つ額 | 筋緊張低下 | 筋脂質量増加 | 総ビリルビン増加 | 羊水過少 | 耳介低位 | 耳介後方回転 | 耳輪の過剰な巻き込み | 肘屈曲拘縮 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝石灰化 | 肝細胞の脂質蓄積 | 肝腫 | 脂肪肝 | 脳回肥厚 | 脳室拡大 | 脳形態の異常 | 脳梁無発生 of | 腎不全 | 腎拡大 | 腎異形成 | 膝屈曲拘縮 | 血清 creatine phosphokinase上昇 | 血清クレアチン症状 | 血漿フリーカルニチン減少 | 血漿総カルニチン減少 | 足の異常 | 趾爪低形成 | 長い指 | 長い趾 | 長鎖ジカルボン酸尿 | 長鎖脂肪酸上昇 | 非ケトン性低血糖 | 額傾斜 | 食餌摂取障害 | 食餌摂取障害 in infancy | 高い額 | 高アンモニア血症 | 高口蓋 | 高狭口蓋 | 高脂血症 | 鼻閉" ] }, { "id": "NANDO:2200731", "label_en": "STXBP2/Munc18-2 deficiency", "label_ja": "STXBP2/Munc18-2欠損症", "yomigana": "えすてぃーえっくすびーぴー2/えむゆーえぬしー18−2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200731", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Abnormal natural killer cell physiology | Abnormal pulmonary interstitial morphology | Anemia | Autosomal recessive inheritance | Childhood onset | Colitis | Decreased circulating immunoglobulin concentration | Fever | Hemophagocytosis | Hepatosplenomegaly | Hypertriglyceridemia | Increased circulating ferritin concentration | Infantile onset | Low-frequency sensorineural hearing impairment | Lymphadenopathy | Recurrent fever | Recurrent sinusitis | Recurrent upper respiratory tract infections | Splenomegaly | Thrombocytopenia" ], "symptoms_ja_list": [ "ナチュラルキラー細胞生理の異常 | リンパ節腫大 | 低ガンマグロブリン血症 | 低音感音難聴 | 反復性上気道感染症 | 反復性副鼻腔炎 | 常染色体潜性遺伝 | 発熱 | 発熱エピソード | 結腸炎 | 肝脾腫 | 脾腫 | 血小板減少 | 血液貪食症 | 血清フェリチン増加 | 貧血 | 間質性肺疾患 | 高トリグリセリド血症" ] }, { "id": "NANDO:1200547", "label_en": "Perry disease", "label_ja": "ペリー病", "yomigana": "ぺりーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200547", "notificationNumber": "126", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of extrapyramidal motor function | Adult onset | Akinesia | Anxiety | Apathy | Autosomal dominant inheritance | Bradykinesia | Central hypoventilation | Dementia | Depression | Disinhibition | Dysarthria | Dystonia | Frontotemporal dementia | Hyperorality | Hypotension | Hypoventilation | Inappropriate behavior | Insomnia | Mask-like facies | Parkinsonism | Personality changes | Primitive reflex | Rapidly progressive | Respiratory arrest | Respiratory insufficiency | Rigidity | Short stepped shuffling gait | Sleep disturbance | Tremor | Vertical supranuclear gaze palsy | Weak voice | Weight loss" ], "symptoms_ja_list": [ "Dementia | うつ | ジストニア | パーキンソン症候群 | 不安 | 不眠 | 不適切行動 | 中枢性低換気 | 仮面様顔貌 | 低換気 | 低血圧 | 体重喪失 | 前頭側頭葉認知症 | 原始反射 (掌頤", "口とがらせ", "眉間) | 口愛過度 | 呼吸不全 | 呼吸停止 | 垂直性核上性注視麻痺 | 常染色体顕性遺伝 | 弱い声 | 性格変化 | 振戦 | 構音障害 | 無動症 | 無関心", "感情鈍磨 | 睡眠障害 | 短い歩幅のひきずり歩行 | 硬直 | 脱抑制 | 運動緩徐 | 錐体外路運動機能の異常" ] }, { "id": "NANDO:2100296", "label_en": "Hereditary hemorrhagic telangiectasia", "label_ja": "遺伝性出血性末梢血管拡張症", "yomigana": "いでんせいしゅっけつせいまっしょうけっかんかくちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100296", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100294", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200270", "label_en": "Catastrophic antiphospholipid syndrome", "label_ja": "劇症型原発性抗リン脂質抗体症候群", "yomigana": "げきしょうがたげんぱつせいこうりんししつこうたいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200270", "notificationNumber": "48", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal circulating cytokine concentration | Abnormal heart valve morphology | Abnormal jugular vein morphology | Abnormal thrombosis | Abnormality of the kidney | Abnormality of the nervous system | Acute encephalopathy | Amaurosis fugax | Angina pectoris | Antiphospholipid antibody positivity | Arterial thrombosis | Arthralgia | Arthritis | Avascular necrosis | Chorea | Coombs-positive hemolytic anemia | Cutis marmorata | Deep venous thrombosis | Dementia | Eclampsia | Gangrene | Gastrointestinal infarctions | Microangiopathic hemolytic anemia | Migraine | Miscarriage | Myocardial infarction | Myocarditis | Peripheral thrombosis | Preeclampsia | Pulmonary arterial hypertension | Pulmonary embolism | Seizure | Skin ulcer | Stroke | Superficial thrombophlebitis | Systemic lupus erythematosus | Thrombocytopenia | Transient ischemic attack | Venous thrombosis" ], "symptoms_ja_list": [ "Coombs 陽性溶血性貧血 | Dementia | 一過性虚血発作 | 一過性黒内障 | 偏頭痛 | 全身性紅斑性狼瘡 | 動脈血栓症 | 卒中 | 壊疽 | 大理石皮膚 | 子癇 | 子癇前症 | 微小血管症性溶血性貧血 | 心弁の異常 | 心筋梗塞 | 心筋炎 | 急性脳症 | 抗リン脂質抗体陽性 | 末梢性血栓症 | 深部静脈血栓症 | 無菌性壊死 | 狭心症 | 異常な血栓症 | 発作 | 皮膚潰瘍 | 神経系の異常 | 肺塞栓症 | 肺高血圧 | 胃腸梗塞 | 腎異常 | 自然流産 | 舞踏病 | 血小板減少 | 血清サイトカイン値の異常 | 表在性血栓性静脈炎 | 関節炎 | 関節痛 | 静脈血栓症" ] }, { "id": "NANDO:2100249", "label_en": "Acute encephalitis with refractory, repetitive partial seizures", "label_ja": "難治頻回部分発作重積型急性脳炎", "yomigana": "なんちひんかいぶぶんほっさじゅうせきがたきゅうせいのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100249", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201360", "label_en": "Brachytelephalangic chondrodysplasia punctata", "label_ja": "末節骨短縮型点状軟骨異形成症", "yomigana": "まっせつこつたんしゅくがたてんじょうなんこついけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201360", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal hyoid bone morphology | Abnormal ossification involving the femoral head and neck | Abnormality of the costochondral junction | Abnormality of the vertebral column | Anosmia | Asthma | Atlantoaxial instability | Atrial septal defect | Broad nasal tip | Butterfly vertebrae | C1-C2 subluxation | Calcaneal epiphyseal stippling | Cataract | Central apnea | Cervical cord compression | Cervical kyphosis | Cervical spinal canal stenosis | Cervical spine instability | Cervical vertebral dysplasia | Coronal cleft vertebrae | Depressed nasal bridge | Depressed nasal ridge | Epiphyseal stippling | Epiphyseal stippling of toe phalanges | Feeding difficulties | Gastroesophageal reflux | Global developmental delay | Hearing impairment | Hypogonadism | Hypoplasia of the anterior nasal spine | Hypoplasia of the maxilla | Hypoplastic cervical vertebrae | Ichthyosis | Increased nuchal translucency | Laryngeal calcification | Microcephaly | Mixed hearing impairment | Nasal congestion | Neonatal respiratory distress | Optic disc hypoplasia | Optic nerve hypoplasia | Patent ductus arteriosus | Postnatal growth retardation | Proportionate short stature | Pulmonary artery stenosis | Punctate vertebral calcifications | Recurrent respiratory infections | Respiratory failure requiring assisted ventilation | Short columella | Short distal phalanx of finger | Short distal phalanx of toe | Short nasal septum | Short nose | Short stature | Spinal canal stenosis | Stippling of the epiphyses of the distal phalanges of the hand | Tachypnea | Thick nasal alae | Tracheal calcification | Tracheal stenosis | Ventricular septal defect | Vertebral hypoplasia | X-linked recessive inheritance" ], "symptoms_ja_list": [ "C1-C2 亜脱臼 | X連鎖潜性遺伝 | 上顎低形成 | 不均衡型低身長 | 中枢性無呼吸 | 低身長 | 全般性発達遅滞 | 冠状脊椎裂 | 分厚い鼻翼 | 前鼻背低形成 | 動脈管開存症 | 反復性呼吸器感染症 | 喉頭石灰化 | 喘息 | 多呼吸 | 大腿骨頭および頸部の骨化異常 | 小頭 | 幅広い鼻尖 | 心室中隔欠損 | 心房中隔欠損 | 性腺機能低下症 | 手の末節骨骨端の点状石灰化 | 新生児呼吸窮迫 | 気管狭窄 | 気管石灰化 | 混合性難聴 | 無嗅覚 | 環軸椎不安定 | 生後の成長遅滞 | 白内障 | 短い指末節骨 | 短い趾末節骨 | 短い鼻 | 短い鼻中隔 | 短い鼻小柱 | 肋軟骨接合部異常 | 肺動脈狭窄 | 胃食道逆流 | 脊柱の異常 | 脊椎低形成 | 脊椎点状石灰化 | 脊椎管狭窄 | 落ちくぼんだ鼻梁 | 蝶形脊椎骨 | 補助換気が必要な呼吸不全 | 視神経低形成 | 視神経杯低形成 | 趾骨の骨端点状石灰化 | 踵骨点状骨端 | 難聴 | 項部透過性増加 | 頚椎不安定 | 頚椎低形成 | 頚椎後弯 | 頚椎異形成 | 頚椎管後索 | 頚髄圧迫 | 食餌摂取障害 | 骨端点状石灰化 | 高度/補酵素活性異常 | 魚鱗癬 | 鼻閉" ] }, { "id": "NANDO:1201067", "label_en": "obsolete Nodular lymphocyte predominance Hodgkin lymphoma", "label_ja": "obsolete 結節性リンパ球優位型ホジキンリンパ腫", "yomigana": "けっそくせいりんぱきゅうゆういがたほじきんりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_1201067", "notificationNumber": "", "obsolete": 1, "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200154", "label_en": "Juvenile neuronal ceroid lipofuscinosis", "label_ja": "若年型神経セロイドリポフスチン症", "yomigana": "じゃくねんがたしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200154", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200252", "label_en": "Type I Takayasu arteritis", "label_ja": "高安動脈炎（I型）", "yomigana": "たかやすどうみゃくえん（1がた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200252", "notificationNumber": "40", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200760", "label_en": "Other congenital defects of phagocyte function", "label_ja": "38から42までに掲げるもののほか、白血球機能異常", "yomigana": "38から42までにかかげるもののほか、はっけっきゅうきのういじょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200760", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100207", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100220", "label_en": "Neurocutaneous syndrome", "label_ja": "神経皮膚症候群", "yomigana": "しんけいひふしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100220", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201139", "label_en": "Intrahepatic primary sclerosing cholangitis", "label_ja": "肝内型原発性硬化性胆管炎", "yomigana": "かんないがたげんぱつせいこうかせいたんかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201139", "notificationNumber": "94", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200012", "label_en": "Huntington's disease", "label_ja": "ハンチントン病", "yomigana": "はんちんとんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200012", "notificationNumber": "8", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal circulating cholesterol concentration | Abnormality of eye movement | Abnormality of the sense of smell | Aggressive behavior | Agitation | Anxiety | Apathy | Autosomal dominant inheritance | Babinski sign | Bradykinesia | Caudate atrophy | Cerebellar atrophy | Cerebral atrophy | Chorea | Clonus | Clumsiness | Compulsive behaviors | Delusion | Dementia | Depression | Disinhibition | Dystonia | Excessive daytime somnolence | Gait ataxia | Gait disturbance | Gait imbalance | Generalized muscle weakness | Gliosis | Hallucinations | Hyperreflexia | Hypokinesia | Impaired visuospatial constructive cognition | Inability to walk | Insomnia | Involuntary movements | Irritability | Memory impairment | Mental deterioration | Mutism | Myoclonus | Neuronal loss in central nervous system | Oral-pharyngeal dysphagia | Personality changes | Polyphagia | Poor fine motor coordination | Rigidity | Seizure | Speech articulation difficulties | Weight loss" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | うつ | クローヌス | コレステロール代謝の異常 | ジストニア | ミオクローヌス | 不器用 | 不均衡歩行 | 不安 | 不眠 | 不穏 | 不随意運動 | 中枢神経のニューロン喪失 | 体重喪失 | 全身性筋虚弱 | 反射亢進 | 口腔咽頭嚥下障害 | 嗅覚の異常 | 嗜眠 | 大脳白質の異常 | 大脳萎縮 | 妄想 | 小脳萎縮 | 尾状核萎縮 | 常染色体顕性遺伝 | 幻覚 | 強迫性行動 | 微細運動協調不全 | 性格変化 | 攻撃的行動 | 歩行不能 | 歩行失調 | 歩行障害 | 無言症 | 無関心", "感情鈍磨 | 発作 | 発語調音困難 | 眼運動の異常 | 知能悪化 | 硬直 | 神経膠症 | 脱抑制 | 舞踏病 | 被刺激性 | 視空間建設的認知の障害 | 記憶障害 | 運動減少 | 運動緩徐 | 過食症" ] }, { "id": "NANDO:2200378", "label_en": "Non-gonadotropin-dependent precocious puberty", "label_ja": "ゴナドトロピン非依存性思春期早発症", "yomigana": "ごなどとろぴんひいぞんせいししゅんきそうはつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200378", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100135", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200644", "label_en": "Familial polycythemia", "label_ja": "家族性赤血球増加症", "yomigana": "かぞくせいせっけっきゅうぞうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200644", "notificationNumber": "9", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100187", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201027", "label_en": "Chronic progressive Neuro-Behçet's disease", "label_ja": "慢性進行型神経ベーチェット病", "yomigana": "まんせいしんこうがたしんけいべーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201027", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201103", "label_en": "Familial digital arthropathy with brachydactyly", "label_ja": "短指を伴う家族性指関節症", "yomigana": "たんしをともなうかぞくせいゆびかんせつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201103", "notificationNumber": "341", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Arthropathy | Autosomal dominant inheritance | Brachydactyly | Brachytelomesophalangy | Delayed skeletal maturation | Juvenile onset | Osteoarthritis of the small joints of the hand | Radial deviation of finger | Short distal phalanx of finger | Short distal phalanx of toe | Short middle phalanx of finger | Short middle phalanx of toe | Shortening of all distal phalanges of the toes | Shortening of all middle phalanges of the toes" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 手の小関節骨関節炎 | 指の橈側偏位 | 短い指中節骨 | 短い指末節骨 | 短い末節および中節骨 | 短い趾中節骨 | 短い趾末節骨 | 短指症候群 | 趾の全中節骨の短縮 | 趾の全末節骨の短縮 | 関節症 | 骨格骨化遅延" ] }, { "id": "NANDO:1200272", "label_en": "Systemic lupus erythematosus", "label_ja": "全身性エリテマトーデス", "yomigana": "ぜんしんせいえりてまとーです", "url": "http://nanbyodata.jp/ontology/NANDO_1200272", "notificationNumber": "49", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal pigmentation of the oral mucosa | Abnormality of salivation | Alopecia | Anorexia | Antineutrophil antibody positivity | Antinuclear antibody positivity | Antiphospholipid antibody positivity | Arthritis | Autosomal dominant inheritance | Cheilitis | Chorea | Cutaneous photosensitivity | Decreased circulating complement C3 concentration | Decreased total leukocyte count | Depression | Discoid lupus rash | Fatigue | Fever | Hematuria | Hemolytic anemia | Hypertension | Lymphadenopathy | Nephritis | Oral ulcer | Pericarditis | Pleuritis | Polyarticular arthritis | Proteinuria | Psychosis | Pyuria | Retinopathy | Seizure | Systemic lupus erythematosus | Thrombocytopenia | Vasculitis in the skin | Weight loss" ], "symptoms_ja_list": [ "うつ | リンパ節腫大 | 体重喪失 | 全身性紅斑性狼瘡 | 円板状紅斑性狼瘡 | 口唇炎 | 口腔潰瘍 | 唾液分泌の異常 | 多関節関節炎 | 常染色体顕性遺伝 | 心外膜炎 | 抗リン脂質抗体陽性 | 抗好中球抗体陽性 | 抗核抗体陽性 | 溶血性貧血 | 異常な口腔粘膜色素沈着 | 疲労 | 発作 | 発熱 | 白血球減少症 | 皮膚光線過敏症 | 皮膚血管炎 | 禿頭 | 精神病 | 網膜症 | 胸膜炎 | 腎炎 | 膿尿 | 舞踏病 | 蛋白尿 | 血小板減少 | 血尿 | 血清補体 C3減少 | 関節炎 | 食思不振 | 高血圧" ] }, { "id": "NANDO:2200448", "label_en": "IL-10RB deficiency", "label_ja": "IL-10RB欠損症", "yomigana": "あいえる10あーるびーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200448", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Autosomal recessive inheritance | Enterocolitis | Infantile onset | Perianal abscess | Rectovaginal fistula | Recurrent bronchitis" ], "symptoms_ja_list": [ "反復性気管支炎 | 小腸結腸炎 | 常染色体潜性遺伝 | 直腸膣瘻 | 肛門周囲膿瘍" ] }, { "id": "NANDO:1200326", "label_en": "CD8 deficiency", "label_ja": "CD8欠損症", "yomigana": "しーでぃー8けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200326", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Absence of CD8+ T cells | Autosomal recessive inheritance | Bronchiectasis | Congenital onset | Recurrent bacterial infections | Recurrent respiratory infections | Recurrent viral infections" ], "symptoms_ja_list": [ "CD8+ T 細胞欠損 | 反復性ウイルス感染症 | 反復性呼吸器感染症 | 反復性細菌感染症 | 常染色体潜性遺伝 | 気管支拡張" ] }, { "id": "NANDO:2201425", "label_en": "Mixed morphea", "label_ja": "Mixed morphea", "yomigana": "", "url": "http://nanbyodata.jp/ontology/NANDO_2201425", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100304", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200363", "label_en": "Liddle syndrome", "label_ja": "リドル症候群", "yomigana": "りどるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200363", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100131", "symptoms_en_list": [ "Arrhythmia | Cerebral ischemia | Constipation | Fatigue | Hypertension | Hypokalemia | Muscle weakness | Nephropathy | Renal insufficiency" ], "symptoms_ja_list": [ "不整脈 | 低カリウム血症 | 便秘 | 大脳虚血 | 疲労 | 筋虚弱 | 腎不全 | 腎症 | 高血圧" ] }, { "id": "NANDO:2200525", "label_en": "Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)", "label_ja": "MELAS", "yomigana": "めらす", "url": "http://nanbyodata.jp/ontology/NANDO_2200525", "notificationNumber": "92", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [ "Abnormal central motor function | Abnormal left ventricular function | Abnormal mitochondria in muscle tissue | Agenesis of corpus callosum | Anemia | Anxiety | Aphasia | Aplasia/Hypoplasia of the cerebral white matter | Arrhythmia | Ataxia | Basal ganglia calcification | Bilateral sensorineural hearing impairment | Bilateral tonic-clonic seizure | Bipolar affective disorder | Brain atrophy | Cardiomyopathy | Cerebral cortical atrophy | Cerebral visual impairment | Concentric hypertrophic cardiomyopathy | Congestive heart failure | Constipation | Dementia | Depression | Developmental cataract | Diabetes mellitus | Diarrhea | Dilated cardiomyopathy | Distal peripheral sensory neuropathy | EEG abnormality | Elevated brain lactate level by MRS | Encephalopathy | Episodic vomiting | Erythema | Exercise intolerance | Failure to thrive | Fever | Fluctuations in consciousness | Focal segmental glomerulosclerosis | Focal-onset seizure | Gait disturbance | Gastrointestinal dysmotility | Global developmental delay | Growth abnormality | Hemianopia | Hemiparesis | Hypertension | Hypertrichosis | Hypertrophic cardiomyopathy | Hypogonadotropic hypogonadism | Hypoparathyroidism | Hypoplasia of the corpus callosum | Hypothyroidism | Impaired visuospatial constructive cognition | Increased CSF lactate | Increased CSF protein concentration | Increased circulating lactate concentration | Intestinal pseudo-obstruction | Lactic acidosis | Left ventricular hypertrophy | Memory impairment | Migraine | Mitochondrial inheritance | Mitochondrial myopathy | Mixed demyelinating and axonal polyneuropathy | Motor delay | Muscle weakness | Myoclonus | Myopathy | Nephropathy | Ophthalmoplegia | Optic atrophy | Peripheral axonal neuropathy | Peripheral neuropathy | Personality changes | Pigmentary retinopathy | Progressive external ophthalmoplegia | Progressive sensorineural hearing impairment | Proteinuria | Proximal tubulopathy | Psychosis | Psychotic mentation | Pulmonary arterial hypertension | Ragged-red muscle fibers | Recurrent pancreatitis | Recurrent paroxysmal headache | Reduced consciousness | Seizure | Sensorimotor neuropathy | Sensorineural hearing impairment | Short attention span | Short stature | Specific learning disability | Stroke-like episode | Type I diabetes mellitus | Type II diabetes mellitus | Variable expressivity | Visual loss | Vitiligo | Vomiting | Widened cerebral subarachnoid space | Wolff-Parkinson-White syndrome" ], "symptoms_ja_list": [ "Dementia | I 型糖尿病 | II 型糖尿病 | MRSによる脳尿酸値上昇 | Ragged-red 筋線維 | Wolff-Parkinson-White 症候群 | うっ血性心不全 | うつ | ミオクローヌス | ミオパチー | ミトコンドリアミオパチー | ミトコンドリア遺伝 | 下痢 | 不安 | 不整脈 | 両側性感音難聴 | 中枢性運動機能の異常 | 乳酸性アシドーシス | 低ゴナドトロピン性性腺機能低下症 | 低身長 | 便秘 | 偏頭痛 | 先天性白内障 | 全般性発達遅滞 | 全身性間代性強直性発作 | 副甲状腺機能低下症 | 半盲 | 卒中様エピソード | 双極性感情障害 | 反復性膵炎 | 嘔吐 | 嘔吐エピソード | 基底核石灰化 | 多毛症 | 大脳白質無形成/低形成 | 大脳皮質萎縮 | 失語症 | 巣状分節性糸球体硬化症 | 左室機能障害 | 左室肥大 | 幅広い大脳クモ膜下腔 | 心筋症 | 性格変化 | 意識下での線維束性収縮 | 意識減少/混乱 | 感覚運動ニューロパチー | 感音難聴 | 成長異常 | 成長障害 (成長不全) | 拡張型心筋症 | 末梢神経ニューロパチー | 末梢神経軸索ニューロパチー | 歩行障害 | 求心性肥大型心筋症 | 混合性脱髄性および軸索ポリニューロパチー | 焦点性発作 | 片側不全麻痺 | 特異的学習障害 | 甲状腺機能低下症 | 発作 | 発熱 | 白斑 | 皮質性視力障害 | 眼筋麻痺 | 短い注意期間 | 筋組織のミトコンドリア異常 | 筋虚弱 | 精神病 | 精神病的精神機能 | 糖尿病 | 紅斑 | 肥大型心筋症 | 肺高血圧 | 胃腸蠕動運動異常 | 脳梁低形成 | 脳梁無発生 of | 脳波異常 | 脳症 | 脳萎縮 | 腎症 | 腸偽閉塞 | 色素性網膜症 | 蛋白尿 | 血清乳酸増加 | 視力喪失 | 視神経萎縮 | 視空間建設的認知の障害 | 記憶障害 | 貧血 | 近位腎尿細管症 | 進行性外眼筋麻痺 | 進行性感音難聴 | 運動不耐症 | 運動失調 | 運動発達遅滞 | 遠位末梢感覚神経ニューロパチー | 頭痛 (褐色細胞腫を伴う) | 髄液タンパクの増加 | 髄液乳酸増加 | 高血圧" ] }, { "id": "NANDO:2200065", "label_en": "Liposarcoma", "label_ja": "脂肪肉腫", "yomigana": "しぼうにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200065", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [ "Abdominal pain | Abnormality of the kidney | Fatigue | Nausea and vomiting | Paresthesia | Sarcoma | Subcutaneous nodule | Varicose veins | Weight loss" ], "symptoms_ja_list": [ "体重喪失 | 吐気と 嘔吐 | 感覚異常 | 疲労 | 皮下結節 | 肉腫 | 腎異常 | 腹痛 | 静脈瘤" ] }, { "id": "NANDO:2200030", "label_en": "Sucutaneous panniculitis-like T-cell lymphoma", "label_ja": "皮下脂肪織炎様T細胞リンパ腫", "yomigana": "ひかしぼうしきえんようてぃーさいぼうりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200030", "notificationNumber": "91", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [ "Abnormality of the coagulation cascade | Anemia | Autoimmunity | Autosomal recessive inheritance | Childhood onset | Facial edema | Fatigue | Fever | Hemophagocytosis | Hepatosplenomegaly | Hypertriglyceridemia | Hypofibrinogenemia | Increased circulating ferritin concentration | Juvenile onset | Late onset | Middle age onset | Pancytopenia | Panniculitis | Skin ulcer | Splenomegaly | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "低フィブリノーゲン血症 | 体重喪失 | 凝固カスケードの異常 | 常染色体潜性遺伝 | 汎血球減少症 | 疲労 | 発熱 | 皮膚潰瘍 | 肝脾腫 | 脂肪織炎 | 脾腫 | 自己免疫 | 血液貪食症 | 血清フェリチン増加 | 貧血 | 顔面浮腫 | 高トリグリセリド血症" ] }, { "id": "NANDO:1200131", "label_en": "Fucosidosis, infantile form", "label_ja": "乳児型フコシドーシス", "yomigana": "にゅうじがたふこしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200131", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200201", "label_en": "Familial interstitial pneumonia", "label_ja": "遺伝性間質性肺炎", "yomigana": "いでんせいかんしつせいはいえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200201", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100033", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200795", "label_en": "Hereditary angioedema", "label_ja": "遺伝性血管性浮腫", "yomigana": "いでんせいけっかんせいふしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200795", "notificationNumber": "26", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal dominant inheritance | Systemic lupus erythematosus" ], "symptoms_ja_list": [ "全身性紅斑性狼瘡 | 常染色体顕性遺伝" ] }, { "id": "NANDO:2200647", "label_en": "Neonatal alloimmune thrombocytopenia", "label_ja": "新生児同種免疫性血小板減少症", "yomigana": "しんせいじどうしゅめんえきせいけっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200647", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100188", "symptoms_en_list": [ "Abnormal bleeding | Abnormality of the nervous system | Bilateral sensorineural hearing impairment | Blindness | Cephalohematoma | Cerebral palsy | Gastrointestinal hemorrhage | Global developmental delay | Hematuria | Intracranial hemorrhage | Melena | Neonatal alloimmune thrombocytopenia | Petechiae | Purpura | Spontaneous hematomas | Subarachnoid hemorrhage" ], "symptoms_ja_list": [ "クモ膜下出血 | 下血 | 両側性感音難聴 | 全般性発達遅滞 | 新生児同種免疫性血小板減少 | 点状出血 | 産瘤 | 異常な出血 | 盲 | 神経系の異常 | 紫斑 | 胃腸出血 | 脳性麻痺 | 自然血管腫 | 血尿 | 頭蓋内出血" ] }, { "id": "NANDO:2100002", "label_en": "Leukemia", "label_ja": "白血病", "yomigana": "はっけつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100002", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200367", "label_en": "Pseudohypoaldosteronism", "label_ja": "偽性低アルドステロン症", "yomigana": "ぎせいていあるどすてろんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200367", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100133", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100042", "label_en": "Chronic heart disease", "label_ja": "慢性心疾患", "yomigana": "まんせいしんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100042", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200108", "label_en": "Intracranial germ cell tumour", "label_ja": "頭蓋内胚細胞腫瘍", "yomigana": "ずがいないはいさいぼうしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200108", "notificationNumber": "61", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200975", "label_en": "Trifunctional protein deficiency, lethal type", "label_ja": "新生児期発症型三頭酵素欠損症", "yomigana": "しんせいじきはっしょうがたさんとうこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200975", "notificationNumber": "317", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200471", "label_en": "Articular-type juvenile idiopathic arthritis", "label_ja": "関節型若年性特発性関節炎", "yomigana": "かんせつがたじゃくねんせいとくはつせいかんせつえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200471", "notificationNumber": "107", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal circulating interleukin concentration | Abnormality of the ankle | Anterior chamber synechiae | Antinuclear antibody positivity | Arthritis | Autoimmunity | Band keratopathy | Cataract | Elevated erythrocyte sedimentation rate | Failure to thrive | Glaucoma | Joint hypermobility | Knee osteoarthritis | Reduced visual acuity | Rheumatoid arthritis | Severe postnatal growth retardation | Uveitis | Visual loss" ], "symptoms_ja_list": [ "インターロイキン分泌の異常 | ブドウ膜炎 | 中心視力減少 | 前房癒着 | 帯状角膜症 | 成長障害 (成長不全) | 抗核抗体陽性 | 白内障 | 緑内障 | 膝骨関節炎 | 自己免疫 | 視力喪失 | 赤沈値上昇 | 足関節の異常 | 重度の生後の成長遅滞 | 関節リウマチ | 関節炎 | 関節過動" ] }, { "id": "NANDO:2200294", "label_en": "Aortic aneurysm", "label_ja": "大動脈瘤", "yomigana": "だいどうみゃくりゅう", "url": "http://nanbyodata.jp/ontology/NANDO_2200294", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100101", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200451", "label_en": "Left-sided colitis", "label_ja": "潰瘍性大腸炎（左側大腸炎型）", "yomigana": "かいようせいだいちょうえん（ひだりがわだいちょうえんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200451", "notificationNumber": "97", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200211", "label_en": "Amyloid light-chain amyloidosis", "label_ja": "免疫グロブリン性アミロイドーシス", "yomigana": "めんえきぐろぶりんせいあみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200211", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal distention | Abnormal EKG | Abnormal autonomic nervous system physiology | Abnormal cardiac atrium morphology | Abnormal cardiac ventricle morphology | Abnormal heart morphology | Abnormal pulmonary interstitial morphology | Abnormal salivary gland morphology | Abnormality of the gastrointestinal tract | Abnormality of the kidney | Albuminuria | Anemia | Arrhythmia | Autonomic erectile dysfunction | Bruising susceptibility | Constrictive median neuropathy | Dysphagia | Dyspnea | Elevated circulating alkaline phosphatase concentration | Erectile dysfunction | Fatigue | Gastrointestinal hemorrhage | Gastroparesis | Hepatic amyloidosis | Hepatomegaly | Hoarse voice | Hypertrophic cardiomyopathy | Hypoalbuminemia | Increased circulating immunoglobulin concentration | Macroglossia | Malabsorption | Nephrotic syndrome | Obstructive sleep apnea | Peripheral edema | Peripheral neuropathy | Postural hypotension with compensatory tachycardia | Proteinuria | Reduced factor X activity | Reduced left ventricular ejection fraction | Renal insufficiency | Sensorimotor neuropathy | Weight loss | Xerostomia" ], "symptoms_ja_list": [ "アルカリホスファターゼ上昇 | アルブミン尿 | ネフローゼ症候群 | 不整脈 | 代償性頻拍を伴う姿勢性低血圧 | 体重喪失 | 出血傾向 | 勃起異常 | 収縮性正中神経ニューロパチー | 口内乾燥症 | 吸収障害 | 呼吸困難 | 唾液腺の異常 | 嗄声 | 嚥下障害 | 巨舌 | 心室の異常 | 心形態の異常 | 心房の異常 | 心電図異常 | 感覚運動ニューロパチー | 末梢性浮腫 | 末梢神経ニューロパチー | 異常な自律神経生理 | 疲労 | 第 X 因子活性の減少 | 肝アミロイドーシス | 肝腫 | 肥大型心筋症 | 胃不全麻痺 | 胃腸出血 | 胃腸管の異常 | 腎不全 | 腎異常 | 腹部膨満 | 自律神経性勃起機能障害 | 蛋白尿 | 貧血 | 閉塞性睡眠時無呼吸 | 間質性肺疾患 | 駆出分画減少 | 高アルブミン血症 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2100067", "label_en": "Abnormal origin of coronary artery from pulmonary artery", "label_ja": "冠動脈起始異常", "yomigana": "かんどうみゃくきしいじょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100067", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200864", "label_en": "Myotonic dystrophy", "label_ja": "筋強直性ジストロフィー", "yomigana": "きんきょうちょくせいじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200864", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200110", "label_en": "Congenital nephrotic syndrome of the Finnish type", "label_ja": "フィンランド型先天性ネフローゼ症候群", "yomigana": "ふぃんらんどがたせんてんせいねふろーぜしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200110", "notificationNumber": "26", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [ "Abdominal distention | Abnormal renal tubule morphology | Anasarca | Autosomal recessive inheritance | Congenital nephrotic syndrome | Congenital onset | Delayed eruption of permanent teeth | Diffuse mesangial sclerosis | Edema | Elevated amniotic fluid alpha-fetoprotein concentration | Gastroesophageal reflux | Glomerular sclerosis | Growth delay | Hypercholesterolemia | Hyperlipidemia | Hypoalbuminemia | Hypoproteinemia | Hypothyroidism | Neonatal respiratory distress | Nephrotic syndrome | Proteinuria | Pyloric stenosis | Rapidly progressive | Recurrent infections | Renal insufficiency | Renal tubular atrophy | Small for gestational age | Stage 5 chronic kidney disease" ], "symptoms_ja_list": [ "びまん性メサンギウム硬化症 | ステージ5慢性腎疾患 | ネフローゼ症候群 | 低タンパク血症 | 先天性ネフローゼ症候群 | 全身性浮腫 | 反復性感染症 | 在胎月齢より小さい児 | 尿細管萎縮 | 常染色体潜性遺伝 | 幽門狭窄 | 成長遅滞 | 新生児呼吸窮迫 | 永久歯萠出遅延 | 浮腫 | 甲状腺機能低下症 | 糸球体硬化症 | 羊水中α-フェトプロテイン上昇 | 胃食道逆流 | 腎不全 | 腎尿細管異常 | 腹部膨満 | 蛋白尿 | 高アルブミン血症 | 高コレステロール血症 | 高脂血症" ] }, { "id": "NANDO:2100054", "label_en": "Hypertrophic cardiomyopathy", "label_ja": "肥大型心筋症", "yomigana": "ひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100054", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100202", "label_en": "Immune system disease", "label_ja": "免疫疾患", "yomigana": "めんえきしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100202", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200309", "label_en": "Asplenia syndrome", "label_ja": "無脾症候群", "yomigana": "むひしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200309", "notificationNumber": "75", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100107", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201506", "label_en": "Focal cortical dysplasia type 3c", "label_ja": "限局性皮質異形成タイプ3c", "yomigana": "げんきょくせいひしついけいせいたいぷ3しー", "url": "http://nanbyodata.jp/ontology/NANDO_2201506", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200556", "label_en": "Alexander disease type II", "label_ja": "延髄・脊髄優位型アレキサンダー病", "yomigana": "えんずい・せきずいゆういがたあれきさんだーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200556", "notificationNumber": "131", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal medulla oblongata morphology | Abnormal periventricular white matter morphology | Ataxia | Babinski sign | Cervical spinal cord atrophy | Dysarthria | Dysphagia | Dysphonia | Hyperreflexia | Limb muscle weakness | Nystagmus | Palatal tremor | Periventricular cysts | Rigidity | Scoliosis | Sleep disturbance | Spastic paraparesis | Spasticity | Urinary bladder sphincter dysfunction" ], "symptoms_ja_list": [ "Babinski サイン | 側弯 | 反射亢進 | 口蓋ミオクローヌス | 嚥下障害 | 四肢筋虚弱 | 延髄の異常 | 構音障害 | 異常な自律神経生理 | 痙性 | 痙性対不全麻痺 | 発音障害 | 眼振 | 睡眠障害 | 硬直 | 脳室周囲嚢胞 | 脳室周囲白質の異常 | 膀胱括約筋機能障害 | 運動失調 | 頚髄萎縮" ] }, { "id": "NANDO:2201261", "label_en": "Ehlers-Danlos syndrome, dermatosparaxis type", "label_ja": "皮膚脆弱型エーラス・ダンロス症候群", "yomigana": "ひふぜいじゃくがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201261", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100172", "symptoms_en_list": [ "Abnormal joint morphology | Abnormality of subcutaneous fat tissue | Aphasia | Atrophic scars | Autosomal recessive inheritance | Avascular necrosis of the capital femoral epiphysis | Blepharochalasis | Blue sclerae | Bruising susceptibility | Congenital onset | Coxa valga | Coxa vara | Delayed closure of the anterior fontanelle | Depressed nasal bridge | Dermal translucency | Downslanted palpebral fissures | Echolalia | Epicanthus | Esophagitis | Everted lower lip vermilion | Excessive wrinkled skin | Femoral hernia | Fragile skin | Frontal open bite | Gastroesophageal reflux | Gingival bleeding | Gingival hyperkeratosis | Gingival overgrowth | Hernia | Hiatus hernia | Hip dislocation | Hip dysplasia | Hirsutism | Hyperextensible skin | Hypodontia | Hypotonia | Infantile onset | Inguinal hernia | Joint dislocation | Joint hypermobility | Joint stiffness | Limb undergrowth | Low-set ears | Micrognathia | Motor delay | Mutism | Myopia | Osteomalacia | Osteopenia | Osteoporosis | Poor wound healing | Postnatal growth retardation | Premature birth | Premature rupture of membranes | Prolonged bleeding time | Recurrent mandibular subluxations | Redundant skin | Retrognathia | Rickets | Scarring | Scoliosis | Severe short stature | Short phalanx of finger | Short stature | Short toe | Soft", "doughy skin | Spontaneous neonatal pneumothorax | Telecanthus | Thick vermilion border | Thin skin | Umbilical hernia | Wide anterior fontanel" ], "symptoms_ja_list": [ "くる病 | ヘルニア | 下口唇唇紅部外反 | 下顎後退 | 低身長 | 側弯 | 傷治癒不全 | 内反股 | 内眼角外方偏位 | 内眼角贅皮 | 出血傾向 | 分厚い唇紅部縁 | 前期破水 | 前部開放咬合 | 反復性下顎亜脱臼 | 反響言語 | 四肢成長不全 | 外反股 | 多毛 | 大泉門閉鎖遅延 | 大腿ヘルニア | 大腿骨骨頭骨端の無血管性壊死 | 失語症 | 小顎 | 常染色体潜性遺伝 | 幅広い大泉門 | 早産 | 柔らかいパン生地様の皮膚 | 歯肉出血 | 歯肉過成長 | 歯肉過角化症 | 減歯症 | 無言症 | 生後の成長遅滞 | 瘢痕 | 皮下脂肪組織の異常 | 皮膚透明性 | 眼瞼皮膚弛緩症 | 眼瞼裂斜下 | 短い指骨 | 短い趾 | 筋緊張低下 | 耳介低位 | 股関節異形成 | 股関節脱臼 | 胃食道逆流 | 脆い皮膚 | 臍ヘルニア | 自然新生児気胸 | 萎縮性瘢痕 | 落ちくぼんだ鼻梁 | 薄い皮膚 | 裂孔ヘルニア | 近視 | 運動発達遅滞 | 過伸展皮膚 | 過剰な皮膚 | 過剰な皺の多い皮膚 | 遷出血時間遷延 | 重度の低身長 | 関節形態異常 | 関節拘縮 | 関節脱臼 | 関節過動 | 青色胸膜 sclerae | 食道炎 | 骨減少症 | 骨粗鬆症 | 骨軟化症 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200937", "label_en": "Cone-rod dystrophy", "label_ja": "錐体杆体ジストロフィー", "yomigana": "すいたいかんたいじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200937", "notificationNumber": "301", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal retinal pigmentation | Attenuation of retinal blood vessels | Central scotoma | Color vision defect | Dyschromatopsia | Metamorphopsia | Nyctalopia | Nystagmus | Optic disc pallor | Photophobia | Progressive visual loss | Retinal atrophy | Spicular pigmentation of the retina | Visual impairment" ], "symptoms_ja_list": [ "中心暗点 | 変形視 | 夜盲症 | 眼振 | 網膜色素異常 | 網膜萎縮 | 網膜血管減弱 | 羞明 | 色弱 | 色覚異常 | 視力障害 | 視神経杯蒼白 | 進行性視力喪失 | 骨小棘色素性網膜症" ] }, { "id": "NANDO:2100058", "label_en": "Restrictive cardiomyopathy", "label_ja": "拘束型心筋症", "yomigana": "こうそくがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100058", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200384", "label_en": "Ovarian dysgenesis", "label_ja": "卵巣形成不全", "yomigana": "らんそうけいせいふぜん", "url": "http://nanbyodata.jp/ontology/NANDO_2200384", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100139", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Abnormality of secondary sexual hair | Ambiguous genitalia | Aplasia/Hypoplasia of the breasts | Aplasia/hypoplasia of the uterus | Arachnodactyly | Ataxia | Decreased fertility | Decreased serum estradiol | Delayed puberty | Delayed skeletal maturation | Gonadal dysgenesis | Hearing impairment | Increased circulating gonadotropin level | Microcephaly | Osteopenia | Osteoporosis of vertebrae | Premature ovarian insufficiency | Primary amenorrhea | Pulmonary fibrosis | Reduced bone mineral density | Secondary amenorrhea | Short stature | Sparse pubic hair | Streak ovary" ], "symptoms_ja_list": [ "くも指 | ゴナドトロピン過剰症 | 乳房無形成/低形成 | 二次性毛の異常 | 二次性無月経 | 代謝/ホメオスターシスの異常 | 低身長 | 原発性無月経 | 妊孕性減少 | 子宮無形成/低形成 | 小頭 | 思春期遅発 | 性別不明の外性器 | 性腺異発生 | 早発性卵巣不全 | 疎な恥毛 | 索状卵巣 | 肺線維症 | 脊椎骨骨粗鬆症 | 血清エストラジオール減少 | 運動失調 | 難聴 | 骨ミネラル濃度減少 | 骨格骨化遅延 | 骨減少症" ] }, { "id": "NANDO:2200683", "label_en": "Other inherited bleeding disorder", "label_ja": "36から46までに掲げるもののほか、先天性血液凝固因子異常", "yomigana": "36から46までにかかげるもののほか、せんてんせいけつえきぎょうこいんしいじょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200683", "notificationNumber": "40", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100196", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200608", "label_en": "Xeroderma pigmentosum", "label_ja": "色素性乾皮症", "yomigana": "しきそせいかんぴしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200608", "notificationNumber": "159", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormality of extrapyramidal motor function | Abnormality of the dentition | Alopecia | Aminoaciduria | Ankyloblepharon | Arthralgia | Ataxia | Blepharitis | Cataract | Cerebral cortical atrophy | Cognitive impairment | Conjunctival telangiectasia | Craniofacial hyperostosis | Cryptorchidism | Cutaneous photosensitivity | Decreased testicular size | Delayed skeletal maturation | Dermal atrophy | Developmental regression | Diminished deep tendon reflex | Dry skin | EEG abnormality | Ectropion | Entropion | Erythema | Failure to thrive | Fatigue | Fever | Flat nasal alae | Freckling | Hearing impairment | Hyperkeratosis | Hypermelanotic macule | Hypogonadism | Hypopigmented skin patches | Intellectual disability | Keratitis | Macule | Melanocytic nevus | Melanoma | Microcephaly | Neoplasm | Neoplasm of the eye | Opacification of the corneal stroma | Optic atrophy | Papilloma | Peripheral neuropathy | Photophobia | Poikiloderma | Pterygium | Seizure | Sensorineural hearing impairment | Short stature | Spasticity | Strabismus | Telangiectasia | Telangiectasia of the skin | Thickened skin | Thin skin" ], "symptoms_ja_list": [ "アミノ酸尿 | メラニン増加性斑 | メラニン細胞母斑 | 乳頭腫 | 乾いた皮膚 | 低色素性皮膚斑 | 低身長 | 停留精巣 | 内反(眼瞼) | 分厚い皮膚 | 外反(眼瞼) | 多形皮膚萎縮症 (ポイキロデルマ) | 大脳皮質萎縮 | 小頭 | 平坦な鼻翼 | 性腺機能低下症 | 感音難聴 | 成長障害 (成長不全) | 斑 | 斜視 | 新生物 | 末梢神経ニューロパチー | 歯の異常 | 毛細血管拡張 | 疲労 | 痙性 | 発作 | 発熱 | 発達退行 | 白内障 | 皮膚光線過敏症 | 皮膚毛細血管拡張 | 皮膚萎縮 | 眼新生物 | 眼瞼炎 | 眼瞼癒着 | 知的障害 | 禿頭 | 精巣サイズ減少 | 紅斑 | 結膜毛細血管拡張 | 羞明 | 翼状片 | 脳波異常 | 腱反射減少 | 色素斑 | 薄い皮膚 | 視神経萎縮 | 角膜炎 | 角膜間質混濁形成 | 認知障害 | 運動失調 | 過角化症 | 錐体外路運動機能の異常 | 関節痛 | 難聴 | 頭蓋顔面過骨症 | 骨格骨化遅延 | 黒色腫" ] }, { "id": "NANDO:2201266", "label_en": "Erythropoietic protoporphyria", "label_ja": "赤芽球性プロトポルフィリン症", "yomigana": "せきがきゅうせいぷろとぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201266", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100173", "symptoms_en_list": [ "Autosomal recessive inheritance | Childhood onset | Cholelithiasis | Eczematoid dermatitis | Edema | Erythema | Hemolytic anemia | Hepatic failure | Hypertriglyceridemia | Pruritus" ], "symptoms_ja_list": [ "常染色体潜性遺伝 | 掻痒 | 浮腫 | 湿疹 | 溶血性貧血 | 紅斑 | 肝不全 | 胆石症 | 高トリグリセリド血症" ] }, { "id": "NANDO:1200836", "label_en": "Glycogen storage diseases type XIV", "label_ja": "筋型糖原病XIV型", "yomigana": "きんがたとうげんびょう14がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200836", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal isoelectric focusing of serum transferrin | Autosomal recessive inheritance | Bifid uvula | Blue sclerae | Cardiomegaly | Cerebral venous thrombosis | Chronic diarrhea | Chronic hepatitis | Cleft palate | Coarctation of aorta | Delayed puberty | Dilated cardiomyopathy | Dyspnea | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Exercise intolerance | Fatigue | Global developmental delay | Growth delay | Hepatic steatosis | Hepatitis | Hepatomegaly | Hydronephrosis | Hypoglycemia | Hypotonia | Increased hepatic glycogen content | Intrahepatic cholestasis | Malignant hyperthermia | Micrognathia | Motor delay | Muscle weakness | Pierre-Robin sequence | Prolonged partial thromboplastin time | Prolonged prothrombin time | Pulmonary arterial hypertension | Recurrent otitis media | Reduced antithrombin III activity | Rhabdomyolysis | Short stature | Sudden cardiac death | Tachycardia | Ventricular septal defect | Vomiting" ], "symptoms_ja_list": [ "Pierre-Robin シークェンス | アンチトロンビン III 活性の減少 | プロトロンビン時間遷延 | 二分した口蓋垂 | 低血糖 | 低身長 | 全般性発達遅滞 | 反復性中耳炎 | 口蓋裂 | 呼吸困難 | 嘔吐 | 大動脈縮窄 | 大脳静脈血栓症 | 小顎 | 常染色体潜性遺伝 | 心室中隔欠損 | 心拡大 | 思春期遅発 | 悪性高体温症 | 慢性下痢 | 慢性肝炎 | 成長遅滞 | 拡張型心筋症 | 横紋筋融解 | 水腎症 | 疲労 | 突然心臓死 | 筋緊張低下 | 筋虚弱 | 肝グリコーゲン量増加 | 肝トランスアミナーゼ上昇 | 肝内胆汁うっ滞 | 肝炎 | 肝腫 | 肺高血圧 | 脂肪肝 | 血清 creatine phosphokinase上昇 | 血清トランスフェリンの等電点電気泳動異常 | 運動不耐症 | 運動発達遅滞 | 部分的トロンボプラスチン時間遷延 | 青色胸膜 sclerae | 頻拍" ] }, { "id": "NANDO:1100006", "label_en": "Blood disease", "label_ja": "血液系疾患", "yomigana": "けつえきけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100006", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200277", "label_en": "Subvalvular aortic stenosis", "label_ja": "大動脈弁下狭窄症", "yomigana": "だいどうみゃくべんかきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200277", "notificationNumber": "64", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100093", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200025", "label_en": "Other malignant lymphomas", "label_ja": "18から22までに掲げるもののほか、リンパ腫", "yomigana": "18から22までにかかげるもののほか、りんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200025", "notificationNumber": "91", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200074", "label_en": "Thyroid cancer", "label_ja": "甲状腺癌", "yomigana": "こうじょうせんがん", "url": "http://nanbyodata.jp/ontology/NANDO_2200074", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200558", "label_en": "GM1 Gangliosidosis", "label_ja": "GM1ガングリオシドーシス", "yomigana": "じーえむ1がんぐりおしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2200558", "notificationNumber": "118", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal diaphysis morphology | Abnormal epiphysis morphology | Abnormal heart morphology | Abnormal metaphysis morphology | Abnormal retinal vascular morphology | Abnormal scrotum morphology | Abnormal speech pattern | Abnormal vertebral body morphology | Abnormality of extrapyramidal motor function | Abnormality of movement | Abnormality of the skeletal system | Abnormality of the skin | Aplasia/Hypoplasia of the abdominal wall musculature | Arthralgia | Aspiration pneumonia | Ataxia | Blindness | Broad nasal tip | Camptodactyly of finger | Cardiomyopathy | Cherry red spot of the macula | Coarse facial features | Coarse metaphyseal trabecularization | Cognitive impairment | Congestive heart failure | Corneal opacity | Decreased beta-galactosidase activity | Depressed nasal bridge | Depressed nasal ridge | Developmental regression | Dysostosis multiplex | Dysphagia | Dystonia | Failure to thrive | Feeding difficulties | Frontal bossing | Gait disturbance | Ganglioside accumulation | Gastroesophageal reflux | Gastroschisis | Gastrostomy tube feeding in infancy | Generalized dystonia | Generalized hirsutism | Generalized hypotonia | Gingival overgrowth | Global developmental delay | Hepatosplenomegaly | Hirsutism | Hydrops fetalis | Hyperlordosis | Hyperreflexia | Hypotonia | Infectious encephalitis | Inguinal hernia | Joint stiffness | Kyphosis | Limb undergrowth | Long philtrum | Low-set ears | Macroglossia | Macrotia | Mandibular prognathia | Morphological central nervous system abnormality | Narrow mouth | Nystagmus | Optic atrophy | Oral aversion | Patent ductus arteriosus | Platyspondyly | Premature birth | Recurrent respiratory infections | Scoliosis | Seizure | Short stature | Skeletal dysplasia | Spasticity | Splenomegaly | Strabismus | Thickened skin | Tremor | Unsteady gait | Ventricular septal defect | Weight loss" ], "symptoms_ja_list": [ "β-ガラクトシダーゼ活性の減少 | うっ血性心不全 | ガングリオシド代謝の異常 | ジストニア | 下顎突出 | 不安定歩行 | 中枢神経の形態異常 | 乳児期の胃瘻管栄養 | 低身長 | 体重喪失 | 側弯 | 全般性発達遅滞 | 全身性ジストニア | 全身性多毛 | 全身性筋緊張低下 | 分厚い皮膚 | 前弯 | 前頭突出", "額突出 | 動脈管開存症 | 反射亢進 | 反復性呼吸器感染症 | 口嫌悪 | 嚥下障害 | 四肢成長不全 | 多毛 | 多発性異骨症 | 大耳 | 大脳白質の異常 | 屈指 | 巨舌 | 幅広い鼻尖 | 後弯 | 心室中隔欠損 | 心形態の異常 | 心筋症 | 成長障害 (成長不全) | 扁平脊椎 | 振戦 | 斜視 | 早産 | 椎体骨形態異常 | 歩行障害 | 歯肉過成長 | 狭い口 | 痙性 | 発作 | 発達退行 | 皮膚の異常 | 盲 | 眼振 | 神経学的発語障害 | 筋緊張低下 | 粗い骨梁 | 粗な顔貌 | 網膜血管の異常 | 耳介低位 | 肝脾腫 | 胃食道逆流 | 胎児水腫 | 脳炎 | 脾腫 | 腹壁破裂 | 腹壁筋無形成/低形成 | 落ちくぼんだ鼻梁 | 視神経萎縮 | 角膜混濁 | 認知障害 | 誤嚥性肺炎 | 運動の異常 | 運動失調 | 錐体外路運動機能の異常 | 長い人中 | 関節拘縮 | 関節痛 | 陰嚢異常 | 食餌摂取障害 | 骨幹形態異常 | 骨幹端の異常 | 骨格の異常 | 骨格異形成 | 骨端の異常 | 黄斑のチェリーレッド斑 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200197", "label_en": "Bronchial asthma", "label_ja": "気管支喘息", "yomigana": "きかんしぜんそく", "url": "http://nanbyodata.jp/ontology/NANDO_2200197", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100031", "symptoms_en_list": [ "Asthma | Autosomal dominant inheritance | Non-Mendelian inheritance" ], "symptoms_ja_list": [ "喘息 | 多因子遺伝 | 常染色体顕性遺伝" ] }, { "id": "NANDO:1200208", "label_en": "Familial idiopathic basal ganglia calcification", "label_ja": "家族性特発性基底核石灰化症", "yomigana": "かぞくせいとっぱつせいきていかくせっかいかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200208", "notificationNumber": "27", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal circulating calcium concentration | Abnormal pyramidal sign | Adult onset | Athetosis | Autosomal dominant inheritance | Basal ganglia calcification | Bradykinesia | Calcification of the small brain vessels | Cerebellar dentate nucleus calcification | Childhood onset | Chorea | Depression | Dysarthria | Dysdiadochokinesis | Dystonia | Gait disturbance | Global developmental delay | Hyperreflexia | Limb dysmetria | Mask-like facies | Memory impairment | Mental deterioration | Parkinsonism | Postural instability | Progressive | Psychosis | Rigidity | Seizure | Tremor | Urinary incontinence" ], "symptoms_ja_list": [ "うつ | アテトーゼ | カルシウムホメオスターシスの異常 | ジストニア | パーキンソン症候群 | 仮面様顔貌 | 全般性発達遅滞 | 反射亢進 | 四肢測定障害 | 基底核石灰化 | 姿勢不安定 | 小脳歯状核の濃い石灰化 | 小脳血管石灰化 | 常染色体顕性遺伝 | 拮抗運動反復不全 | 振戦 | 構音障害 | 歩行障害 | 発作 | 知能悪化 | 硬直 | 精神病 | 舞踏病 | 記憶障害 | 運動緩徐 | 遺尿 | 錐体路運動機能の異常" ] }, { "id": "NANDO:1201095", "label_en": "MECP2 Duplication Syndrome", "label_ja": "MECP2重複症候群", "yomigana": "えむいーしーぴー2ちょうふくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201095", "notificationNumber": "339", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "2-3 toe cutaneous syndactyly | Abnormal speech pattern | Abnormality of chromosome segregation | Absent speech | Anteverted nares | Anxiety | Ataxia | Autistic behavior | Axial hypotonia | Blepharophimosis | Brachycephaly | Bruxism | Chorea | Chronic constipation | Clinodactyly of the 5th finger | Cryptorchidism | Decreased body weight | Delayed skeletal maturation | Depressed nasal bridge | Depression | Developmental regression | Drooling | Dysphagia | Epicanthus | Everted lower lip vermilion | Facial hypotonia | Feeding difficulties | Floppy infant | Gait disturbance | Gastroesophageal reflux | Generalized non-motor (absence) seizure | Global developmental delay | Growth delay | Hernia of the abdominal wall | High palate | Hypospadias | Hypotonia | Inability to walk | Joint stiffness | Low-set ears | Lower limb spasticity | Macrocephaly | Macrotia | Malar flattening | Microcephaly | Midface retrusion | Motor stereotypy | Narrow mouth | Pain insensitivity | Pectus excavatum | Progressive | Progressive spasticity | Prominent nasal bridge | Ptosis | Recurrent infections | Recurrent respiratory infections | Reduced eye contact | Repetitive compulsive behavior | Rigidity | Seizure | Severe global developmental delay | Severe intellectual disability | Short foot | Short stature | Sleep disturbance | Status epilepticus | Tented upper lip vermilion | Upslanted palpebral fissure | Wide nasal bridge | Widely spaced teeth | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うつ | てんかん重積 | テント状上口唇唇紅部 | 上向きの鼻孔 | 下口唇唇紅部外反 | 下肢痙性 | 不安 | 乳児筋性筋緊張低下 | 低身長 | 体幹の筋緊張低下 | 体重減少 | 停留精巣 | 全般性発達遅滞 | 内眼角贅皮 | 反復性呼吸器感染症 | 反復性強迫行動 | 反復性感染症 | 嚥下障害 | 大耳 | 大頭 | 小頭 | 尿道下裂 | 常同行動 | 幅広い鼻梁 | 平坦な頬 | 慢性便秘 | 成長遅滞 | 染色体分離の異常 | 欠神発作 | 歩行不能 | 歩行障害 | 歯ぎしり | 歯間隔離 | 流涎 | 漏斗胸 | 狭い口 | 疼痛不応性 | 発作 | 発語欠損 | 発達退行 | 目立つ鼻梁 | 眼があわない | 眼瞼下垂 | 眼瞼裂斜上 | 眼瞼裂狭小 | 睡眠障害 | 知的障害", "重度 | 短い足 | 短頭 | 硬直 | 神経学的発語障害 | 第2-3 趾皮膚性合趾症 | 第5指弯指 | 筋緊張低下 | 耳介低位 | 胃食道逆流 | 腹壁ヘルニア | 自閉性行動 | 舞踏病 | 落ちくぼんだ鼻梁 | 進行性痙性 | 運動失調 | 重度の全般性発達遅滞 | 関節拘縮 | 顔面中部後退 | 顔面筋緊張低下 | 食餌摂取障害 | 骨格骨化遅延 | 高口蓋" ] }, { "id": "NANDO:2201509", "label_en": "Myotonia congenita", "label_ja": "先天性ミオトニー", "yomigana": "せんてんせいみおとにー", "url": "http://nanbyodata.jp/ontology/NANDO_2201509", "notificationNumber": "98", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100306", "symptoms_en_list": [ "Arrhythmia | Clumsiness | Dysphagia | EMG abnormality | EMG: myopathic abnormalities | EMG: myotonic discharges | Feeding difficulties in infancy | Muscle spasm | Muscle stiffness | Myalgia | Myotonia | Myotonia with warm-up phenomenon | Progressive distal muscle weakness | Skeletal muscle hypertrophy" ], "symptoms_ja_list": [ "ウォームアップ減少を伴うミオトニア | ミオトニア | 不器用 | 不整脈 | 嚥下障害 | 筋けいれん | 筋痛 | 筋硬直 | 筋肥大 | 筋電図: ミオトニア放電 | 筋電図: ミオパチー異常 | 筋電図異常 | 進行性遠位筋虚弱 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200130", "label_en": "Fucosidosis", "label_ja": "フコシドーシス", "yomigana": "ふこしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200130", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal facial shape | Abnormal nail morphology | Abnormal pyramidal sign | Abnormality of skull size | Abnormality of the cardiovascular system | Abnormality of the dentition | Abnormality of the gallbladder | Absent/hypoplastic coccyx | Absent/hypoplastic paranasal sinuses | Acrocyanosis | Angiokeratoma | Anhidrosis | Anterior beaking of lumbar vertebrae | Anterior beaking of thoracic vertebrae | Autosomal recessive inheritance | Barrel-shaped chest | Beaking of vertebral bodies | Brachycephaly | Brisk reflexes | Bruising susceptibility | CNS hypomyelination | Cardiomegaly | Cerebral atrophy | Cervical platyspondyly | Cherry red spot of the macula | Coarse facial features | Corneal opacity | Coxa valga | Decreased muscle mass | Delayed gross motor development | Depressed nasal bridge | Developmental regression | Dry skin | Dysostosis multiplex | Dystonia | Elevated sweat chloride | Failure to thrive | Flexion contracture | Frontal bossing | Generalized amyotrophy | Generalized hyperkeratosis | Global developmental delay | Glycopeptiduria | Hearing impairment | Hemiplegia | Hepatomegaly | Hernia | Hyperhidrosis | Hypertelorism | Hypothyroidism | Hypotonia | Infantile onset | Intellectual disability | Kyphosis | Lipoatrophy | Low-set ears | Lumbar hyperlordosis | Macroglossia | Mental deterioration | Mucopolysacchariduria | Muscle weakness | Oligosacchariduria | Ovoid vertebral bodies | Petechiae | Polyneuropathy | Prominent forehead | Recurrent respiratory infections | Scoliosis | Seizure | Severe intellectual disability | Shield chest | Short stature | Spastic gait | Spastic tetraplegia | Spasticity | Splenomegaly | Thick eyebrow | Thick lower lip vermilion | Tortuosity of conjunctival vessels | Vacuolated lymphocytes | Vascular skin abnormality | Wide nose" ], "symptoms_ja_list": [ "くちばし状椎体骨 | オリゴ糖尿 | ジストニア | ヘルニア | ポリニューロパチー | ムコ多糖症 | 両眼隔離 | 中枢神経髄鞘形成低下 | 乾いた皮膚 | 低身長 | 側弯 | 全般性発達遅滞 | 全身性筋萎縮 | 全身性過角化症 | 出血傾向 | 分厚い下口唇唇紅部 | 分厚い眉毛 | 前頭突出", "額突出 | 副鼻腔欠損/低形成 | 卵形椎体骨 | 反射活発 | 反復性呼吸器感染症 | 外反股 | 多汗 | 多発性異骨症 | 大脳萎縮 | 尾骨欠損/低形成 | 屈曲拘縮 | 巨舌 | 常染色体潜性遺伝 | 幅広い鼻 | 後弯 | 心拡大 | 心血管系 | 成長障害 (成長不全) | 樽状胸 | 歯の異常 | 汗中クロール上昇 | 点状出血 | 無汗症 | 爪の異常 | 片麻痺 | 甲状腺機能低下症 | 異常な顔の形 | 痙性 | 痙性四肢麻痺 | 痙性歩行 | 発作 | 発達退行 | 目立つ額 | 盾状胸 | 知的障害 | 知的障害", "重度 | 知能悪化 | 短頭 | 空胞化リンパ球 | 筋緊張低下 | 筋虚弱 | 筋量減少 | 粗な顔貌 | 粗大運動発達遅延 | 糖ペプチド尿 | 結膜血管蛇行 | 耳介低位 | 肝腫 | 肢端チアノーゼ | 胆嚢の異常 | 胸椎のくちばし状前方突出 | 脂肪萎縮 | 脾腫 | 腰椎のくちばし状前方突出 | 腰椎前弯 hyperlordosis | 落ちくぼんだ鼻梁 | 血管皮膚異常 | 被角血管腫 | 角膜混濁 | 錐体路運動機能の異常 | 難聴 | 頚椎扁平脊椎 | 頭蓋骨サイズの異常 | 黄斑のチェリーレッド斑" ] }, { "id": "NANDO:1200935", "label_en": "Cone-rod dystrophy and cone dystrophy", "label_ja": "錐体ジストロフィー、および錐体杆体ジストロフィー", "yomigana": "すいたいじすとろふぃー、およびすいたいかんたいじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200935", "notificationNumber": "301", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201044", "label_en": "Progressive familial intrahepatic cholestasis type 2", "label_ja": "進行性家族性肝内胆汁うっ滞症2型", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201044", "notificationNumber": "338", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Autosomal recessive inheritance | Cirrhosis | Conjugated hyperbilirubinemia | Death in childhood | Diarrhea | Elevated circulating alkaline phosphatase concentration | Failure to thrive | Fat malabsorption | Hepatocellular carcinoma | Hepatomegaly | Infantile onset | Intermittent jaundice | Intrahepatic cholestasis | Pruritus | Short stature | Splenomegaly" ], "symptoms_ja_list": [ "アルカリホスファターゼ上昇 | 下痢 | 低身長 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 掻痒 | 肝内胆汁うっ滞 | 肝硬変 | 肝細胞癌 | 肝腫 | 脂肪吸収不全 | 脾腫 | 間歇的黄疸" ] }, { "id": "NANDO:2200609", "label_en": "Other connective tissue disorder", "label_ja": "135及び136に掲げるもののほか、結合組織異常症", "yomigana": "135および136にかかげるもののほか、けつごうそしきいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200609", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100172", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201234", "label_en": "Nephropathic cystinosis", "label_ja": "腎型シスチン症", "yomigana": "じんがたしすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201234", "notificationNumber": "120", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal circulating electrolyte concentration | Abnormal circulating vitamin D concentration | Abnormal cornea morphology | Abnormal tubulointerstitial morphology | Abnormality of thyroid physiology | Acidosis | Aminoaciduria | Autosomal recessive inheritance | Blindness | Cerebral atrophy | Cerebral calcification | Cognitive impairment | Constipation | Corneal crystals | Decreased circulating carnitine concentration | Dehydration | Delayed puberty | Delayed skeletal maturation | Diabetes mellitus | Dysphagia | Elevated intracellular cystine | Episodic metabolic acidosis | Exocrine pancreatic insufficiency | Failure to thrive | Failure to thrive in infancy | Frontal bossing | Generalized aminoaciduria | Genu valgum | Global developmental delay | Glycosuria | Growth delay | Hematuria | Hepatomegaly | Hyperchloremic metabolic acidosis | Hyperphosphaturia | Hypohidrosis | Hypokalemia | Hypomagnesemia | Hyponatremia | Hypophosphatemia | Hypophosphatemic rickets | Hypopigmentation of hair | Hypopigmentation of the skin | Infantile onset | Intellectual disability | Kidney stone | Low-molecular-weight proteinuria | Male hypogonadism | Male infertility | Medullary nephrocalcinosis | Metabolic acidosis | Metaphyseal widening | Microscopic hematuria | Myopathy | Photophobia | Pigmentary retinopathy | Polydipsia | Polyuria | Primary hypothyroidism | Progressive neurologic deterioration | Proteinuria | Rachitic rosary | Recurrent corneal erosions | Reduced visual acuity | Renal Fanconi syndrome | Renal insufficiency | Renal tubular dysfunction | Retinal pigment epithelial mottling | Retinopathy | Rickets | Short stature | Skeletal muscle atrophy | Splenomegaly | Stage 5 chronic kidney disease | Visual impairment | Vomiting | Weight loss" ], "symptoms_ja_list": [ "くる病 | くる病性念珠 | アシドーシス | アミノ酸尿 | ステージ5慢性腎疾患 | ビタミンD代謝の異常 | ミオパチー | 中心視力減少 | 乳児期の成長障害 (成長不全) | 代謝性アシドーシス | 代謝性アシドーシスエピソード | 低カリウム血症 | 低ナトリウム血症 | 低マグネシウム血症 | 低リン血症 | 低リン血症性くる病 | 低分子量蛋白尿 | 低身長 | 体重喪失 | 便秘 | 全般性発達遅滞 | 前頭突出", "額突出 | 原発性甲状腺機能低下症 | 反復性角膜びらん | 嘔吐 | 嚥下障害 | 塩胡椒網膜症 | 外分泌性膵不全 | 外反膝 | 多尿 | 多飲 | 大脳白質の異常 | 大脳石灰化 | 大脳萎縮 | 尿糖 | 尿細管間質異常 | 常染色体潜性遺伝 | 思春期遅発 | 成長遅滞 | 成長障害 (成長不全) | 毛髪低色素 | 汎アミノ酸尿 | 減汗症 | 甲状腺生理異常 | 男性不妊 | 男性性腺機能低下症 | 皮膚低色素 | 盲 | 知的障害 | 筋萎縮 | 糖尿病 | 細胞内シスチン上昇 | 網膜症 | 羞明 | 肝腫 | 脱水 | 脾腫 | 腎不全 | 腎尿細管機能障害 | 腎性 Fanconi 症候群 | 腎結石 | 色素性網膜症 | 蛋白尿 | 血尿 | 血漿カルニチン減少 | 視力障害 | 角膜の異常 | 角膜結晶 | 認知障害 | 進行性神経学的悪化 | 鉄ホメオスターシスの異常 | 顕微血尿 | 骨幹端拡大 | 骨格骨化遅延 | 髄質腎石灰化症 | 高クロール血症性代謝性アシドーシス | 高リン尿" ] }, { "id": "NANDO:2201488", "label_en": "Syringomyelia", "label_ja": "脊髄空洞症", "yomigana": "せきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201488", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100305", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201022", "label_en": "Micro-deletion syndrome and other syndromes", "label_ja": "微細欠失症候群等症候群", "yomigana": "びさいけっしつしょうこうぐんとうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201022", "notificationNumber": "310", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200035", "label_en": "Interdigitating dendritic cell sarcoma", "label_ja": "指状嵌入樹状細胞肉腫", "yomigana": "しじょうかんにゅうじゅじょうさいぼうにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200035", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201335", "label_en": "Antley-Bixler syndrome (squamosal synostosis)", "label_ja": "アントレー・ビクスラー症候群（鱗状縫合）", "yomigana": "あんとれー・びくすらーしょうこうぐん（りんじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201335", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200152", "label_en": "Infantile neuronal ceroid lipofuscinosis", "label_ja": "乳児型神経セロイドリポフスチン症", "yomigana": "にゅうじがたしんけいせろいどりぽふすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200152", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Ataxia | Autosomal recessive inheritance | Blindness | Cerebral atrophy | Decreased light- and dark-adapted electroretinogram amplitude | Depression | EEG abnormality | Flexion contracture | Generalized hypotonia | Global developmental delay | Hallucinations | Hypotonia | Increased neuronal autofluorescent lipopigment | Intellectual disability | Irritability | Juvenile onset | Loss of speech | Macular degeneration | Myoclonus | Optic atrophy | Progressive microcephaly | Progressive visual loss | Psychomotor deterioration | Retinal degeneration | Secondary microcephaly | Seizure | Sleep disturbance | Spasticity | Undetectable electroretinogram | Vacuolated lymphocytes | Vascular granular osmiophilic material deposition" ], "symptoms_ja_list": [ "うつ | ミオクローヌス | 代謝/ホメオスターシスの異常 | 全般性発達遅滞 | 全身性筋緊張低下 | 大脳萎縮 | 屈曲拘縮 | 常染色体潜性遺伝 | 幻覚 | 生後の小頭 | 痙性 | 発作 | 発語喪失 | 盲 | 睡眠障害 | 知的障害 | 神経び自己蛍光脂肪色素の増加 | 空胞化リンパ球 | 筋緊張低下 | 精神運動発達悪化 | 細胞内顆粒状オスミウム好性沈着物 (GROD) | 網膜変性 | 網膜電図 (ERG) 廃絶 | 網膜電図 (ERG) 振幅減少 | 脳波異常 | 被刺激性 | 視神経萎縮 | 進行性小頭 | 進行性視力喪失 | 運動失調 | 黄斑変性" ] }, { "id": "NANDO:1201046", "label_en": "Progressive familial intrahepatic cholestasis type 4", "label_ja": "進行性家族性肝内胆汁うっ滞症4型", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201046", "notificationNumber": "338", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Autosomal recessive inheritance | Cirrhosis | Hepatic failure | Hepatocellular carcinoma | Infantile onset | Intrahepatic cholestasis | Neonatal onset | Portal hypertension | Progressive" ], "symptoms_ja_list": [ "常染色体潜性遺伝 | 肝不全 | 肝内胆汁うっ滞 | 肝硬変 | 肝細胞癌 | 門脈圧亢進" ] }, { "id": "NANDO:2200219", "label_en": "Other supraventricular tachycardia", "label_ja": "6及び7に掲げるもののほか、上室頻拍", "yomigana": "6および7にかかげるもののほか、じょうしつひんぱく", "url": "http://nanbyodata.jp/ontology/NANDO_2200219", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100048", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200956", "label_en": "Kabuki syndrome", "label_ja": "歌舞伎症候群", "yomigana": "かぶきしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200956", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiac septum morphology | Abnormal dental morphology | Abnormal dermatoglyphics | Abnormal heart morphology | Abnormal localization of kidney | Abnormal vertebral body morphology | Abnormality of the dentition | Abnormality of the outer ear | Abnormality of the urinary system | Anorectal anomaly | Atrial septal defect | Autistic behavior | Blue sclerae | Brachydactyly | Butterfly vertebrae | Cerebral cortical atrophy | Chronic otitis media | Cleft palate | Clinodactyly of the 5th finger | Coarctation of aorta | Coloboma | Conductive hearing impairment | Congenital diaphragmatic hernia | Crossed fused renal ectopia | Cryptorchidism | Decreased circulating IgA concentration | Depressed nasal tip | Duplicated collecting system | EEG abnormality | Eversion of lateral third of lower eyelids | Failure to thrive | Feeding difficulties | Floppy infant | Gastroesophageal reflux | Hemivertebrae | High palate | Highly arched eyebrow | Hip dislocation | Hydrocephalus | Hydronephrosis | Hyperinsulinemic hypoglycemia | Hypertrichosis | Hypodontia | Hypoplasia of penis | Hypospadias | Hypotonia | Intellectual disability | Joint dislocation | Joint hypermobility | Lip pit | Long eyelashes | Long palpebral fissure | Macrotia | Microcephaly | Microcornea | Microdontia | Microphthalmia | Neurodevelopmental delay | Nystagmus | Obesity | Optic nerve hypoplasia | Orofacial cleft | Peters anomaly | Postnatal growth retardation | Preauricular skin tag | Precocious puberty | Premature thelarche | Prominent fingertip pads | Protruding ear | Ptosis | Recurrent infections | Renal hypoplasia/aplasia | Scoliosis | Seizure | Sensorineural hearing impairment | Short 5th finger | Short columella | Short middle phalanx of finger | Short stature | Small hand | Sparse lateral eyebrow | Strabismus | Ureteropelvic junction obstruction | Ventriculomegaly | Vertebral clefting | Widely spaced teeth" ], "symptoms_ja_list": [ "IgA欠乏症 | Peters 奇形 | コロボーマ | 下眼瞼外側1/3の外反 | 乳児筋性筋緊張低下 | 乳房発育早発 | 交叉癒合性異所性腎 | 伝音難聴 | 低身長 | 停留精巣 | 側弯 | 先天性横隔膜ヘルニア | 半脊椎 | 反復性感染症 | 口唇小孔 | 口腔裂 | 口蓋裂 | 外耳の異常 | 多毛症 | 大動脈縮窄 | 大耳 | 大脳皮質萎縮 | 小さい手 | 小歯 | 小眼球 | 小角膜 | 小頭 | 尿管腎盂接合部閉塞 | 尿路異常 | 尿道下裂 | 心中隔 | 心形態の異常 | 心房中隔欠損 | 思春期早発 | 感音難聴 | 慢性中耳炎 | 成長障害 (成長不全) | 斜視 | 椎体骨形態異常 | 歯の異常 | 歯形態異常 | 歯間隔離 | 水腎症 | 水頭症 | 減歯症 | 生後の成長遅滞 | 異常な皮膚紋理 | 疎な外側眉毛 | 発作 | 目立つ指尖パッド | 眼振 | 眼瞼下垂 | 知的障害 | 短い指中節骨 | 短い第5指 | 短い鼻小柱 | 短指症候群 | 神経発生遅延 | 第5指弯指 | 筋緊張低下 | 耳介前皮膚肉柱 | 耳介聳立 | 肛門直腸奇形 | 股関節脱臼 | 肥満 | 胃食道逆流 | 脊椎裂 | 脳室拡大 | 脳波異常 | 腎位置異常 | 腎低形成/無形成 | 自閉性行動 | 落ちくぼんだ鼻尖 | 蝶形脊椎骨 | 視神経低形成 | 長い眼瞼裂 | 長い睫毛 | 関節脱臼 | 関節過動 | 陰茎低形成 | 集合管重複 | 青色胸膜 sclerae | 食餌摂取障害 | 高インスリン血症性低血糖 | 高位の弓形眉毛 | 高口蓋" ] }, { "id": "NANDO:1200173", "label_en": "Mitochondrial diseases", "label_ja": "ミトコンドリア病", "yomigana": "みとこんどりあびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200173", "notificationNumber": "21", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200785", "label_en": "C7 deficiency", "label_ja": "C7 欠損症", "yomigana": "しー7けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200785", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Recurrent Neisseria meningitidis infection | Recurrent Neisserial infections" ], "symptoms_ja_list": [ "反復性淋菌感染症 | 反復性髄膜炎菌疾患 | 常染色体潜性遺伝" ] }, { "id": "NANDO:2201069", "label_en": "Maturity-onset diabetes of the young type 1", "label_ja": "MODY1", "yomigana": "えむおーでぃーわい1", "url": "http://nanbyodata.jp/ontology/NANDO_2201069", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [ "Autosomal dominant inheritance | Maturity-onset diabetes of the young" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 若年発症成人型糖尿病" ] }, { "id": "NANDO:2200969", "label_en": "Loeys-Dietz syndrome", "label_ja": "ロイス・ディーツ症候群", "yomigana": "ろいす・でぃーつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200969", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal bleeding | Aortic aneurysm | Aortic dissection | Arachnodactyly | Arterial dissection | Arterial tortuosity | Asthma | Atypical scarring of skin | Bifid uvula | Blue sclerae | Bruising susceptibility | Camptodactyly of finger | Cardiac arrest | Cleft palate | Craniosynostosis | Eczematoid dermatitis | Hypertelorism | Joint dislocation | Joint hypermobility | Malar flattening | Micrognathia | Mitral regurgitation | Myopia | Orofacial cleft | Patent ductus arteriosus | Pectus carinatum | Pectus excavatum | Pes planus | Scoliosis | Spontaneous pneumothorax | Striae distensae | Talipes equinovarus | Tall stature | Thin skin | Uterine rupture | Vascular dilatation" ], "symptoms_ja_list": [ "くも指 | はと胸 | 両眼隔離 | 二分した口蓋垂 | 伸展線 | 側弯 | 僧帽弁逆流 | 内反尖足 | 出血傾向 | 動脈瘤 | 動脈管開存症 | 動脈蛇行y | 動脈解離 | 口腔裂 | 口蓋裂 | 喘息 | 大動脈瘤 | 大動脈解離 | 子宮破裂 | 小顎 | 屈指 | 平坦な頬 | 心停止 | 扁平足 | 湿疹 | 漏斗胸 | 異常な出血 | 自然気胸 | 薄い皮膚 | 近視 | 関節脱臼 | 関節過動 | 青色胸膜 sclerae | 非典型的皮膚瘢痕 | 頭蓋合骨症 | 高身長" ] }, { "id": "NANDO:1200141", "label_en": "Adult-onset Pompe disease", "label_ja": "成人型ポンペ病", "yomigana": "せいじんがたぽんぺびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200141", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201532", "label_en": "Acquired Idiopathic Generalized Anhidrosis", "label_ja": "特発性後天性全身性無汗症", "yomigana": "とくはつせいこうてんせいぜんしんせいむかんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201532", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100309", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200386", "label_en": "Klinefelter syndrome", "label_ja": "Klinefelter症候群", "yomigana": "くらいんふぇるたーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200386", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100139", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200892", "label_en": "Hereditary sideroblastic anemia", "label_ja": "遺伝性鉄芽球性貧血", "yomigana": "いでんせいてつがきゅうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200892", "notificationNumber": "286", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201457", "label_en": "Juvenile polyposis coli", "label_ja": "大腸限局型若年性ポリポーシス", "yomigana": "だいちょうげんきょくがたじゃくねんせいぽりぽーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201457", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100257", "symptoms_en_list": [ "Abnormal bleeding | Adenomatous colonic polyposis | Anemia | Anemic pallor | Duodenal polyposis | Edema | Growth delay | Hematochezia | Multiple gastric polyps | Rectal polyposis" ], "symptoms_ja_list": [ "十二指腸ポリープ症 | 多発性胃ポリープ | 成長遅滞 | 浮腫 | 異常な出血 | 直腸ポリープ症 | 腺腫性結腸ポリープ症 | 血便排泄 | 貧血 | 貧血性蒼白" ] }, { "id": "NANDO:2200580", "label_en": "Menkes disease", "label_ja": "メンケス病", "yomigana": "めんけすびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200580", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100167", "symptoms_en_list": [ "Abnormal carotid artery morphology | Abnormal metaphysis morphology | Abnormal palate morphology | Alopecia | Aplasia/Hypoplasia of the abdominal wall musculature | Arterial stenosis | Atypical behavior | Atypical scarring of skin | Babinski sign | Bladder diverticulum | Bowing of the long bones | Brachycephaly | Brittle hair | Chondrocalcinosis | Chorea | Cutis laxa | Death in childhood | Decreased circulating ceruloplasmin concentration | Developmental regression | Dry skin | Epileptic spasm | Exostoses | Fatigue | Feeding difficulties in infancy | Full cheeks | Gastrointestinal hemorrhage | Hernia | Hyperextensible skin | Hypertonia | Hypoglycemia | Hypopigmentation of hair | Hypopigmentation of the skin | Hypothermia | Hypotonia | Hypsarrhythmia | Infantile onset | Inguinal hernia | Intellectual disability | Intracranial hemorrhage | Intrauterine growth retardation | Joint hypermobility | Malabsorption | Mask-like facies | Metaphyseal spurs | Metaphyseal widening | Microcephaly | Micrognathia | Muscle weakness | Narrow chest | Nausea and vomiting | Osteomyelitis | Osteoporosis | Pectus excavatum | Poor head control | Prolonged neonatal jaundice | Prominent occiput | Recurrent fractures | Seizure | Sepsis | Short stature | Sparse hair | Spasticity | Spontaneous hematomas | Tarsal synostosis | Thickened skin | Umbilical hernia | Vascular dilatation | Venous insufficiency | Woolly hair | Wormian bones | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Babinski サイン | X連鎖潜性遺伝 | てんかん性スパスム | ウォルム氏骨 | ヒプスアリスミア | ヘルニア | 乾いた皮膚 | 仮面様顔貌 | 低体温 | 低血糖 | 低身長 | 分厚い皮膚 | 動脈狭窄 | 動脈瘤 | 反復性骨折 | 口蓋の異常 | 吐気と 嘔吐 | 吸収障害 | 外骨症 | 大きな頬 | 子宮内成長遅滞 | 小頭 | 小顎 | 弛緩性皮膚 | 敗血症 | 毛髪低色素 | 漏斗胸 | 狭い胸郭 | 疎な毛髪 | 疲労 | 痙性 | 発作 | 発達退行 | 皮膚低色素 | 目立つ後頭 | 知的障害 | 短頭 | 禿頭 | 筋緊張亢進 | 筋緊張低下 | 筋虚弱 | 羊毛様毛髪 | 胃腸出血 | 脆い毛髪 | 腹壁筋無形成/低形成 | 膀胱憩室 | 臍ヘルニア | 自然血管腫 | 舞踏病 | 血清セルロプラスミン減少 | 行動異常 | 足根骨癒合症 | 軟骨石灰化症 | 過伸展皮膚 | 遷延性新生児黄疸 | 長管骨湾曲 | 関節過動 | 静脈不全 | 非典型的皮膚瘢痕 | 頭蓋内出血 | 頸動脈の異常 | 頸定不全 | 食餌摂取障害 in infancy | 骨幹端の異常 | 骨幹端拡大 | 骨幹端棘 | 骨粗鬆症 | 骨髄炎 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201421", "label_en": "Circumscribed morphea", "label_ja": "斑状強皮症", "yomigana": "はんじょうきょうひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201421", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100304", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal bone structure | Abnormal cheek morphology | Abnormal facial skeleton morphology | Abnormal skin adnexa morphology | Abnormal upper lip morphology | Abnormality of the cardiovascular system | Abnormality of the dentition | Abnormality of the kidney | Abnormality of the nervous system | Abnormality of the nose | Abnormality of the respiratory system | Abnormality of vision | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Deeply set eye | Dental malocclusion | Erythema | Esophagitis | Facial asymmetry | Fasciitis | Flexion contracture | Focal impaired awareness seizure | Gastroesophageal reflux | Hashimoto thyroiditis | Headache | Hemifacial atrophy | Hyperpigmentation of the skin | Hypopigmented skin patches | Infra-orbital crease | Localized skin lesion | Migraine | Myopathy | Patchy alopecia | Progressive loss of facial adipose tissue | Proptosis | Sclerosis of finger phalanx | Seizure | Short dental root | Skeletal muscle atrophy | Skin erosion | Stroke | Thickened skin | Upper limb asymmetry | Uveitis | Vasculitis | Vitiligo" ], "symptoms_ja_list": [ "ブドウ膜炎 | ミオパチー | 上口唇の異常 | 上肢非対称 | 不整脈 | 不正咬合 | 低色素性皮膚斑 | 偏頭痛 | 分厚い皮膚 | 卒中 | 呼吸器の異常 | 屈曲拘縮 | 心血管系 | 意識または覚醒障害を伴う焦点性発作 | 指骨硬化症 | 斑状禿頭 | 橋本甲状腺炎 | 歯の異常 | 片側顔面萎縮 | 異常な皮膚水泡 | 発作 | 白斑 | 皮膚びらん | 皮膚付属器の異常 | 皮膚高色素 | 眼球突出 | 眼窩下の皺 | 短い歯根 | 神経系の異常 | 筋膜炎 | 筋萎縮 | 紅斑 | 胃食道逆流 | 腎異常 | 自己免疫 | 落ちくぼんだ眼 | 血管炎 | 視覚の異常 | 進行性顔面脂肪組織喪失 | 関節炎 | 関節痛 | 限局性皮膚病変 | 頬部の異常 | 頭痛 | 顔面非対称 | 顔面骨格異常 | 食道炎 | 骨構造異常 | 鼻の異常" ] }, { "id": "NANDO:2100171", "label_en": "Disorder of lipid metabolism", "label_ja": "脂質代謝異常症", "yomigana": "ししつたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100171", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200188", "label_en": "Genetic prion diseases", "label_ja": "遺伝性プリオン病", "yomigana": "いでんせいぷりおんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200188", "notificationNumber": "23", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200686", "label_en": "Angelman syndrome", "label_ja": "アンジェルマン症候群", "yomigana": "あんじぇるまんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200686", "notificationNumber": "201", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal facial shape | Abnormal speech pattern | Abnormality of the gastrointestinal tract | Absent speech | Aggressive behavior | Amblyopia | Anxiety | Astigmatism | Ataxia | Atonic seizure | Atypical absence seizure | Atypical behavior | Autistic behavior | Autosomal dominant inheritance | Blue irides | Brachycephaly | Broad-based gait | Cerebral cortical atrophy | Cerebral dysmyelination | Clumsiness | Constipation | Deeply set eye | Delayed menarche | Delayed speech and language development | Drooling | Dysphagia | EEG abnormality | Exotropia | Fair hair | Feeding difficulties | Feeding difficulties in infancy | Flat occiput | Floppy infant | Gastroesophageal reflux | Gastrostomy tube feeding in infancy | Generalized hypotonia | Generalized myoclonic seizure | Global developmental delay | Hyperactivity | Hypermetropia | Hyperreflexia | Hypopigmentation of the skin | Hypoplasia of the maxilla | Hypotonia | Inability to walk | Inappropriate laughter | Infantile spasms | Intellectual disability | Iris hypopigmentation | Keratoconus | Limb tremor | Macroglossia | Mandibular prognathia | Microcephaly | Motor delay | Myoclonus | Myopia | Nystagmus | Obesity | Optic atrophy | Optic disc pallor | Paroxysmal bursts of laughter | Pes valgus | Polyphagia | Poor speech | Poor suck | Precocious puberty in females | Progressive gait ataxia | Protruding tongue | Ptosis | Recurrent hand flapping | Reduced eye contact | Scoliosis | Secondary microcephaly | Seizure | Self-injurious behavior | Severe global developmental delay | Severe intellectual disability | Sleep disturbance | Sleep-wake cycle disturbance | Sporadic | Status epilepticus | Strabismus | Tongue thrusting | Tremor | Vomiting | Wide mouth | Widely spaced teeth" ], "symptoms_ja_list": [ "てんかん重積 | ミオクローヌス | 上顎低形成 | 下顎突出 | 不器用 | 不安 | 不適切な笑い | 乱視 | 乳児スパスム | 乳児期の胃瘻管栄養 | 乳児筋性筋緊張低下 | 便秘 | 側弯 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性筋緊張低下 | 円錐角膜 | 初潮遅延 | 反射亢進 | 反復性の手 | 吸啜不全 | 嘔吐 | 嚥下障害 | 四肢振戦 | 外反足 | 外斜視 | 多動 | 大脳皮質萎縮 | 大脳髄鞘形成異常症 | 女性での思春期早発 | 孤発性 | 小頭 | 巨舌 | 常染色体顕性遺伝 | 幅広い口 | 幅広歩行 | 平坦な後頭 | 弱視 | 振戦 | 攻撃的行動 | 斜視 | 歩行不能 | 歯間隔離 | 流涎 | 生後の小頭 | 異常な顔の形 | 発作 | 発作性の笑いの爆発 | 発語および言語発達遅延 | 発語不全 | 発語欠損 | 皮膚低色素 | 眼があわない | 眼振 | 眼瞼下垂 | 睡眠-覚醒周期障害 | 睡眠障害 | 知的障害 | 知的障害", "重度 | 短頭 | 神経学的発語障害 | 筋緊張低下 | 肥満 | 胃腸管の異常 | 胃食道逆流 | 脱力発作 | 脳波異常 | 自傷行動 | 自閉性行動 | 舌挺出 | 舌突出 | 落ちくぼんだ眼 | 虹彩低色素 | 行動異常 | 視神経杯蒼白 | 視神経萎縮 | 近視 | 進行性歩行失調 | 運動失調 | 運動発達遅滞 | 過食症 | 遠視 | 重度の全般性発達遅滞 | 金髪 | 青色虹彩 | 非典型的欠伸発作 | 食餌摂取障害 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200506", "label_en": "Syringomyelia", "label_ja": "脊髄空洞症", "yomigana": "せきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200506", "notificationNumber": "117", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200713", "label_en": "Galloway-Mowat syndrome", "label_ja": "ギャロウェイ・モワト症候群", "yomigana": "ぎゃろうぇい・もわとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200713", "notificationNumber": "219", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Abnormal intervertebral disk morphology | Abnormality of immune system physiology | Abnormality of neuronal migration | Abnormality of the dentition | Adducted thumb | Aqueductal stenosis | Camptodactyly of finger | Cognitive impairment | EEG abnormality | Global developmental delay | Hemiplegia/hemiparesis | Hiatus hernia | Hypertelorism | Hypertonia | Hypoplasia of the ear cartilage | Hypotelorism | Hypotonia | Intrauterine growth retardation | Macrotia | Microcephaly | Micrognathia | Nephropathy | Nephrotic syndrome | Pachygyria | Premature birth | Proteinuria | Seizure | Short stature" ], "symptoms_ja_list": [ "ニューロン移動の異常 | ネフローゼ症候群 | 両眼接近 | 両眼隔離 | 低身長 | 免疫系生理の異常 | 全般性発達遅滞 | 内転母指 | 大耳 | 子宮内成長遅滞 | 小頭 | 小顎 | 屈指 | 早産 | 椎間板の異常 | 歯の異常 | 水道狭窄 | 片麻痺/片側不全麻痺 | 発作 | 筋緊張亢進 | 筋緊張低下 | 耳軟骨低形成 | 脳回肥厚 | 脳波異常 | 腎症 | 蛋白尿 | 裂孔ヘルニア | 認知障害" ] }, { "id": "NANDO:2200213", "label_en": "Mobitz type II second degree atrioventricular block", "label_ja": "モビッツ2型ブロック", "yomigana": "もびっつ2がたぶろっく", "url": "http://nanbyodata.jp/ontology/NANDO_2200213", "notificationNumber": "96", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100044", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200594", "label_en": "Early myoclonic encephalopathy", "label_ja": "早期ミオクロニー脳症", "yomigana": "そうきみおくろにーのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200594", "notificationNumber": "147", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100142", "label_en": "Glucagonoma", "label_ja": "グルカゴノーマ", "yomigana": "ぐるかごのーま", "url": "http://nanbyodata.jp/ontology/NANDO_2100142", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200425", "label_en": "Pulmonary arterial hypertension", "label_ja": "肺動脈性肺高血圧症", "yomigana": "はいどうみゃくせいはいこうけつあつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200425", "notificationNumber": "86", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal cardiovascular system physiology | Chest pain | Dyspnea | Fatigue | Hepatomegaly | Palpitations | Pedal edema | Pulmonary arterial hypertension | Right ventricular dilatation | Syncope | Tricuspid regurgitation" ], "symptoms_ja_list": [ "三尖弁逆流 | 共通 | 動悸 | 右室拡張 | 呼吸困難 | 失心 | 心血管系生理の異常 | 浮腫 (下肢) | 疲労 | 肝腫 | 肺高血圧" ] }, { "id": "NANDO:2100193", "label_en": "May-Hegglin anomaly", "label_ja": "メイ・ヘグリン異常症", "yomigana": "めい・へぐりんいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100193", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201082", "label_en": "Chronic progressive homocystinuria", "label_ja": "慢性進行型ホモシスチン尿症", "yomigana": "まんせいしんこうがたほもしすちんにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201082", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200341", "label_en": "Resistance to thyroid hormone", "label_ja": "甲状腺ホルモン不応症", "yomigana": "こうじょうせんほるもんふおうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200341", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100121", "symptoms_en_list": [ "Attention deficit hyperactivity disorder | Autosomal recessive inheritance | Compensated hypothyroidism | Diabetes mellitus | Elevated circulating thyroid-stimulating hormone concentration | Epiphyseal stippling | Fatigue | Goiter | Hearing impairment | Impaired sensitivity to thyroid hormone | Increased body weight | Juvenile onset | Proptosis | Small for gestational age | Type II diabetes mellitus" ], "symptoms_ja_list": [ "II 型糖尿病 | 代償性甲状腺機能低下症 | 体重増加 | 在胎月齢より小さい児 | 常染色体潜性遺伝 | 注意力欠陥多動性疾患 | 甲状腺ホルモン受容体障害 | 甲状腺刺激ホルモン過剰症 | 甲状腺腫 | 疲労 | 眼球突出 | 糖尿病 | 難聴 | 骨端点状石灰化" ] }, { "id": "NANDO:1200997", "label_en": "A20 haploinsufficiency", "label_ja": "A20ハプロ不全症", "yomigana": "えー20はぷろふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200997", "notificationNumber": "325", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201224", "label_en": "Type 5 Farber disease", "label_ja": "進行性神経障害型ファーバー病", "yomigana": "しんこうせいしんけいしょうがいがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201224", "notificationNumber": "123", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200307", "label_en": "Aortic valve regurgitation", "label_ja": "大動脈弁閉鎖不全症", "yomigana": "だいどうみゃくべんへいさふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200307", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100105", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200206", "label_en": "Bronchiectasis", "label_ja": "気管支拡張症", "yomigana": "きかんしかくちょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200206", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100036", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200385", "label_en": "Growth hormone secreting pituitary adenoma", "label_ja": "下垂体ゴナドトロピン産生腫瘍", "yomigana": "かすいたいごなどとろぴんさんせいしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_1200385", "notificationNumber": "76", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200961", "label_en": "5p- syndrome", "label_ja": "5p-症候群", "yomigana": "5ぴーまいなすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200961", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal pinna morphology | Abnormal respiratory system physiology | Abnormality of bone mineral density | Abnormality of the kidney | Abnormality of the voice | Abnormally high-pitched voice | Aggressive behavior | Anterior open-bite malocclusion | Anxiety | Autism | Bifid uvula | Cat cry | Cataract | Conspicuously happy disposition | Cryptorchidism | Delayed speech and language development | Diastasis recti | Downslanted palpebral fissures | Downturned corners of mouth | Echolalia | Epicanthus | Facial asymmetry | Facial grimacing | Feeding difficulties in infancy | Finger syndactyly | Gait disturbance | Gastroesophageal reflux | Growth delay | Hearing impairment | High axial triradius | High palate | Hyperactivity | Hyperacusis | Hypertelorism | Hypertonia | Hypospadias | Hypotonia | Inguinal hernia | Intellectual disability | Intrauterine growth retardation | Joint hypermobility | Long face | Low-set ears | Metatarsus adductus | Microcephaly | Microretrognathia | Motor stereotypy | Myopia | Narrow face | Neonatal hypotonia | Oppositional defiant disorder | Optic atrophy | Orofacial cleft | Overfriendliness | Pes planus | Posteriorly rotated ears | Preauricular skin tag | Premature graying of hair | Prominent supraorbital ridges | Recurrent fractures | Recurrent infections in infancy and early childhood | Round face | Scoliosis | Self-mutilation | Severe global developmental delay | Severe intellectual disability | Short attention span | Short metacarpal | Short metatarsal | Short neck | Short philtrum | Short stature | Single transverse palmar crease | Small for gestational age | Small hand | Sporadic | Stenosis of the external auditory canal | Strabismus | Syndactyly | Thick lower lip vermilion | Wide nasal bridge" ], "symptoms_ja_list": [ "しかめ顔 | 不安 | 両眼隔離 | 丸い顔 | 乳児期および早期小児期の反復性感染症 | 二分した口蓋垂 | 低身長 | 停留精巣 | 側弯 | 内眼角贅皮 | 内転中足骨 | 分厚い下口唇唇紅部 | 前方開放咬合性不正咬合 | 反復性骨折 | 反響言語 | 口腔裂 | 口角下垂 | 合指症 | 合指趾症 | 在胎月齢より小さい児 | 声の異常 | 外耳道狭窄 | 多動 | 子宮内成長遅滞 | 孤発性 | 小さい手 | 小頭 | 小顎後退 | 尿道下裂 | 常同行動 | 幅広い鼻梁 | 循環器系の形態異常 | 成長遅滞 | 扁平足 | 手掌横線 | 攻撃的行動 | 敵対的反抗疾患 | 斜視 | 新生児筋緊張低下 | 早発性毛髪白髪 | 機能的呼吸異常 | 歩行障害 | 狭い顔 | 猫泣き | 発語および言語発達遅延 | 白内障 | 目立つ眼窩上縁 | 眼瞼裂斜下 | 知的障害 | 知的障害", "重度 | 短い中手骨 | 短い中足骨 | 短い人中 | 短い注意期間 | 短い頸部 | 筋緊張亢進 | 筋緊張低下 | 耳介の異常 | 耳介低位 | 耳介前皮膚肉柱 | 耳介後方回転 | 聴覚過敏 | 胃食道逆流 | 腎異常 | 腹直筋離開 | 自己切断 | 自閉症 | 著しい幸せな性質 | 視神経萎縮 | 軸三叉高位 | 近視 | 重度の全般性発達遅滞 | 長い顔 | 関節過動 | 難聴 | 顔面非対称 | 食餌摂取障害 in infancy | 馴れ馴れしさ | 骨ミネラル濃度の異常 | 高口蓋 | 高音の声 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200248", "label_en": "Myocardial infarction", "label_ja": "心筋梗塞", "yomigana": "しんきんこうそく", "url": "http://nanbyodata.jp/ontology/NANDO_2200248", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100070", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201309", "label_en": "Apert syndrome (lambdoid synostosis)", "label_ja": "アペール症候群（人字縫合）", "yomigana": "あぺーるしょうこうぐん（じんじほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201309", "notificationNumber": "33", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200334", "label_en": "Other congenital hypothyroidism", "label_ja": "17から19までに掲げるもののほか、先天性甲状腺機能低下症", "yomigana": "17から19までにかかげるもののほか、せんてんせいこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200334", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200844", "label_en": "Hepatic glycogen storage disease type IIIc", "label_ja": "肝型糖原病IIIc型", "yomigana": "かんがたとうげんびょう3しーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200844", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Autosomal recessive inheritance | Broad nasal tip | Cardiomyopathy | Deeply set eye | Depressed nasal bridge | Distal amyotrophy | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Full cheeks | Hepatic fibrosis | Hepatomegaly | Hyperlipidemia | Hypertriglyceridemia | Hypoglycemia | Immunodeficiency | Malar flattening | Midface retrusion | Mild intellectual disability | Muscle weakness | Myopathy | Short stature | Thin upper lip vermilion | Thin vermilion border | Ventricular hypertrophy" ], "symptoms_ja_list": [ "ミオパチー | 低血糖 | 低身長 | 免疫不全 | 大きな頬 | 常染色体潜性遺伝 | 幅広い鼻尖 | 平坦な頬 | 心室肥大 | 心筋症 | 知的障害", "軽度 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝線維症 | 肝腫 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 薄い唇紅部縁 | 血清 creatine phosphokinase上昇 | 遠位筋萎縮 | 顔面中部後退 | 高トリグリセリド血症 | 高脂血症" ] }, { "id": "NANDO:1200277", "label_en": "Systemic sclerosis", "label_ja": "全身性強皮症", "yomigana": "ぜんしんせいきょうひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200277", "notificationNumber": "51", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormal esophagus morphology | Abnormal large intestine morphology | Abnormal phalangeal joint morphology of the hand | Abnormal pulmonary interstitial morphology | Abnormal small intestine morphology | Abnormal stomach morphology | Abnormality of facial soft tissue | Abnormality of the gastrointestinal tract | Abnormality of the kidney | Acral ulceration | Acute kidney injury | Albuminuria | Alopecia | Antinuclear antibody positivity | Arthralgia | Arthritis | Barrett esophagus | Bowel incontinence | Chronic kidney disease | Constrictive median neuropathy | Dysphagia | Dyspnea | Elevated circulating creatine kinase activity | Flexion contracture | Gangrene | Gastroesophageal reflux | Gastrointestinal telangiectasia | Gastroparesis | Glomerulonephritis | Hypohidrosis | Intestinal bleeding | Irregular hyperpigmentation | Joint swelling | Muscle weakness | Myalgia | Myocarditis | Nail bed telangiectasia | Narrow mouth | Osteolytic defects of the phalanges of the hand | Osteomyelitis | Pain | Pericarditis | Proteinuria | Pruritus | Pulmonary arterial hypertension | Pulmonary fibrosis | Recurrent skin infections | Renal insufficiency | Right ventricular failure | Sclerodactyly | Spotty hypopigmentation | Syncope | Telangiectasia | Thickened skin | Vascular dilatation" ], "symptoms_ja_list": [ "Barrett 食道 | アルブミン尿 | 不規則な高色素 | 分厚い皮膚 | 動脈瘤 | 反復性皮膚感染症 | 収縮性正中神経ニューロパチー | 右室不全 | 呼吸困難 | 嚥下障害 | 壊疽 | 大腸の異常 | 失心 | 小腸の異常 | 屈曲拘縮 | 強指症 | 心外膜炎 | 心筋炎 | 急性腎外傷 | 慢性腎疾患 | 手の指節関節の異常 | 抗核抗体陽性 | 指趾の自己切断となる肢端潰瘍 | 指骨の骨融解病変 | 掻痒 | 斑状低色素 | 毛細血管拡張 | 減汗症 | 爪床毛細血管拡張 | 狭い口 | 疼痛 | 禿頭 | 筋痛 | 筋虚弱 | 糸球体腎炎 | 肺線維症 | 肺高血圧 | 胃の異常 | 胃不全麻痺 | 胃腸毛細血管拡張 | 胃腸管の異常 | 胃食道逆流 | 腎不全 | 腎異常 | 腸出血 | 蛋白尿 | 血清 creatine phosphokinase上昇 | 遺糞症 | 間質性肺疾患 | 関節炎 | 関節痛 | 関節腫脹 | 顔面軟部組織異常 | 食道の異常 | 骨髄炎" ] }, { "id": "NANDO:2100050", "label_en": "Atrial flutter", "label_ja": "心房粗動", "yomigana": "しんぼうそどう", "url": "http://nanbyodata.jp/ontology/NANDO_2100050", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200910", "label_en": "Enterokinase deficiency", "label_ja": "エンテロキナーゼ欠損症", "yomigana": "えんてろきなーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200910", "notificationNumber": "25", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100254", "symptoms_en_list": [ "Autosomal recessive inheritance | Diarrhea | Failure to thrive | Hypoproteinemia | Hypoproteinemic edema" ], "symptoms_ja_list": [ "下痢 | 低タンパク血症 | 低タンパク血症性浮腫 | 常染色体潜性遺伝 | 成長障害 (成長不全)" ] }, { "id": "NANDO:1200318", "label_en": "Acquired idiopathic thrombotic thrombocytopenic purpura", "label_ja": "後天性原発性血栓性血小板減少性紫斑病", "yomigana": "こうてんせいげんぱつせいけっせんせいけっしょうばんげんしょうせいしはんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200318", "notificationNumber": "64", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abdominal pain | Abnormal EKG | Acute kidney injury | Aphasia | Arrhythmia | Arthralgia | Chest pain | Coma | Confusion | Congestive heart failure | Diarrhea | Diplopia | Dyspnea | Elevated circulating creatinine concentration | Fatigue | Fever | Headache | Hematuria | Hyperbilirubinemia | Increased blood urea nitrogen | Low back pain | Microangiopathic hemolytic anemia | Muscle weakness | Myalgia | Myocardial infarction | Nausea | Proteinuria | Purpura | Reticulocytosis | Schistocytosis | Seizure | Stroke | Sudden cardiac death | Thrombocytopenia | Unconjugated hyperbilirubinemia" ], "symptoms_ja_list": [ "うっ血性心不全 | 下痢 | 下背部痛 | 不抱合型高ビリルビン血症 | 不整脈 | 共通 | 分裂赤血球増加症 | 卒中 | 吐気 | 呼吸困難 | 失語症 | 微小血管症性溶血性貧血 | 心筋梗塞 | 心電図異常 | 急性腎外傷 | 昏睡 | 疲労 | 発作 | 発熱 | 突然心臓死 | 筋痛 | 筋虚弱 | 紫斑 | 網状赤血球増多症 | 腹痛 | 蛋白尿 | 血中尿素窒素(BUN)増加 | 血小板減少 | 血尿 | 血清クレアチン症状 | 複視 | 錯乱 | 関節痛 | 頭痛 | 高ビリルビン血症" ] }, { "id": "NANDO:1200813", "label_en": "Hereditary coproporphyria", "label_ja": "遺伝性コプロポルフィリン症", "yomigana": "いでんせいこぷろぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200813", "notificationNumber": "254", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal pain | Abnormal blistering of the skin | Abnormal circulating porphyrin concentration | Abnormal skin morphology | Acute episodes of neuropathic symptoms | Anemia | Anxiety | Atypical scarring of skin | Autosomal dominant inheritance | Back pain | Confusion | Constipation | Cutaneous photosensitivity | Depression | Diarrhea | Distal muscle weakness | Elevated urinary delta-aminolevulinic acid | Episodic vomiting | Extension of hair growth on temples to lateral eyebrow | Facial hirsutism | Fever | Fragile skin | Hallucinations | Hepatocellular carcinoma | Hepatomegaly | Hypertension | Hyponatremia | Increased urinary porphobilinogen | Insomnia | Jaundice | Limb pain | Long hairs growing from helix of pinna | Motor polyneuropathy | Nausea | Nephropathy | Paranoia | Peripheral neuropathy | Porphyrinuria | Proximal lower limb muscle weakness | Proximal upper limb muscle weakness | Psychosis | Respiratory insufficiency | Respiratory paralysis | Seizure | Small intestinal dysmotility | Splenomegaly | Tachycardia | Typified by incomplete penetrance | Vomiting | Young adult onset" ], "symptoms_ja_list": [ "うつ | こめかみ毛髪の外側眉毛への伸長 | パラノイア | ヘム生合成経路の異常 | ポルフィリン尿 | 上肢の近位筋虚弱 | 下痢 | 下肢の近位筋虚弱 | 不安 | 不眠 | 低ナトリウム血症 | 便秘 | 吐気 | 呼吸不全 | 呼吸麻痺 | 嘔吐 | 嘔吐エピソード | 四肢痛 | 小腸蠕動異常 | 尿中δ-アミノレブリン酸上昇 | 尿中ポルホビリノーゲン増加 | 常染色体顕性遺伝 | 幻覚 | 末梢神経ニューロパチー | 異常な皮膚水泡 | 発作 | 発熱 | 皮膚光線過敏症 | 皮膚形態の異常 | 神経病症状の急性エピソード | 精神病 | 耳輪から伸びた長い毛髪 | 肝細胞癌 | 肝腫 | 背部痛 | 脆い皮膚 | 脾腫 | 腎症 | 腹痛 | 貧血 | 運動性ポリニューロパチー | 遠位筋虚弱 | 錯乱 | 非典型的皮膚瘢痕 | 頻拍 | 顔面多毛 | 高血圧 | 黄疸" ] }, { "id": "NANDO:2200435", "label_en": "Nakajo-Nishimura syndrome", "label_ja": "中條・西村症候群", "yomigana": "なかじょう・にしむらしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200435", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201130", "label_en": "Late-onset carnitine palmitoyltransferase I deficiency", "label_ja": "遅発型カルニチンパルミトイルトランスフェラーゼI欠損症", "yomigana": "ちはつがたかるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201130", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200927", "label_en": "Focal-type autoimmune pancreatitis", "label_ja": "限局型自己免疫性膵炎", "yomigana": "げんきょくがたじこめんえきせいすいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200927", "notificationNumber": "300", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200396", "label_en": "Carcinoid syndrome", "label_ja": "カルチノイド症候群", "yomigana": "かるちのいどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200396", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100141", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200830", "label_en": "Glycogen storage diseases type IXd", "label_ja": "筋型糖原病IXd型", "yomigana": "きんがたとうげんびょう9でぃーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200830", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Camptocormia | Difficulty climbing stairs | Distal amyotrophy | Distal muscle weakness | EMG: myopathic abnormalities | Elevated circulating creatine kinase activity | Exercise intolerance | Exercise-induced muscle stiffness | Exercise-induced myalgia | Exercise-induced myoglobinuria | Fatigue | Gait disturbance | Gowers sign | Hypoglycemia | Hyporeflexia | Increased muscle glycogen content | Lower limb muscle weakness | Middle age onset | Muscle fiber necrosis | Muscle spasm | Muscle weakness | Myalgia | Myoglobinuria | Pelvic girdle muscle weakness | Progressive muscle weakness | Quadriceps muscle weakness | Skeletal muscle atrophy | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Gowers サイン | X連鎖潜性遺伝 | ミオグロビン尿 | 下肢筋虚弱 | 低血糖 | 前屈症 | 反射低下 | 大腿四頭筋 筋虚弱 | 歩行障害 | 疲労 | 筋けいれん | 筋グリコーゲン量増加 | 筋痛 | 筋線維壊死 | 筋萎縮 | 筋虚弱 | 筋電図: ミオパチー異常 | 血清 creatine phosphokinase上昇 | 進行性筋虚弱 | 運動不耐症 | 運動誘発性ミオグロビン尿 | 運動誘発性筋痛 | 運動誘発性筋硬直 | 遠位筋萎縮 | 遠位筋虚弱 | 階段の登り困難 | 骨盤帯筋筋虚弱" ] }, { "id": "NANDO:2200272", "label_en": "Partial anomalous pulmonary venous connection", "label_ja": "部分肺静脈還流異常症", "yomigana": "ぶぶんはいじょうみゃくかんりゅういじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200272", "notificationNumber": "78", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100088", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200330", "label_en": "Wiskott-Aldrich syndrome", "label_ja": "ウィスコット・オルドリッチ症候群", "yomigana": "うぃすこっと・おるどりっちしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200330", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal delayed hypersensitivity skin test | Abnormal eosinophil morphology | Abnormal natural killer cell physiology | Abnormal platelet function | Abnormal platelet morphology | Abnormality of the menstrual cycle | Absent microvilli on the surface of peripheral blood lymphocytes | Acute leukemia | Anemia | Arrhythmia | Arthritis | Autoimmune hemolytic anemia | Autoimmunity | Blepharitis | Bruising susceptibility | Chest pain | Chronic diarrhea | Chronic leukemia | Chronic otitis media | Chronic pulmonary obstruction | Conjunctivitis | Decreased circulating IgM concentration | Decreased mean platelet volume | Decreased specific anti-polysaccharide antibody concentration | Decreased total CD8+ T cell proportion | Decreased total lymphocyte count | Decreased total neutrophil count | Diarrhea | Dyspnea | Eczematoid dermatitis | Epistaxis | Fatigue | Fever | Gingival bleeding | Glomerulopathy | Hematemesis | Hematochezia | Hemolytic anemia | Hyperostosis | Hypoplasia of the thymus | Immunodeficiency | Increased circulating IgA concentration | Increased circulating IgE concentration | Increased total eosinophil count | Infantile onset | Inflammation of the large intestine | Internal hemorrhage | Intracranial hemorrhage | Iron deficiency anemia | Keratitis | Large vessel vasculitis | Lymphoma | Lymphoproliferative disorder | Melena | Meningitis | Microcytic anemia | Neoplasm | Nephropathy | Otitis media | Peripheral neuropathy | Petechiae | Prolonged bleeding time | Purpura | Recurrent herpes | Recurrent intrapulmonary hemorrhage | Recurrent lower respiratory tract infections | Recurrent meningitis | Recurrent otitis media | Recurrent pneumonia | Recurrent respiratory infections | Recurrent sinusitis | Recurrent upper respiratory tract infections | Reduced lymphocyte surface expression of CD43 | Sepsis | Sinusitis | Skin ulcer | Small vessel vasculitis | Specific learning disability | Spontaneous hematomas | Sudden cardiac death | Thrombocytopenia | Ulcerative colitis | Urticaria | Vasculitis | X-linked recessive inheritance | obsolete Impaired lymphocyte transformation with phytohemagglutinin" ], "symptoms_ja_list": [ "CD43 (sialophorin) のリンパ球表面発現の減少 | CD8+ T 細胞数の減少 | IgA 値増加 | IgE 値増加 | IgM欠乏症 | PHによるリンパ球変態障害 | X連鎖潜性遺伝 | ナチュラルキラー細胞生理の異常 | ヘルペスウイルスへの感受性 | リンパ増殖性疾患 | リンパ球減少症 | リンパ腫 | 下痢 | 下血 | 不整脈 | 中耳炎 | 免疫不全 | 共通 | 内出血 | 出血傾向 | 副鼻腔炎 | 反復性上気道感染症 | 反復性下気道感染症 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性呼吸器感染症 | 反復性肺内出血 | 反復性肺炎 | 反復性髄膜炎 | 吐血 | 呼吸困難 | 大腸の炎症 | 大血管血管炎 | 好中球減少症 | 好酸球の異常 | 好酸球増多症 | 小球性貧血 | 小血管血管炎 | 平均血小板容量の減少 | 急性白血病 | 慢性下痢 | 慢性中耳炎 | 慢性白血病 | 慢性閉塞性肺疾患 | 敗血症 | 新生物 | 月経周期異常 | 末梢神経ニューロパチー | 末梢血リンパ球表面の微絨毛欠損 | 歯肉出血 | 湿疹 | 溶血性貧血 | 潰瘍性大腸炎 | 点状出血 | 特異的学習障害 | 特異的抗多糖類抗体欠乏症 | 疲労 | 発熱 | 皮膚潰瘍 | 眼瞼炎 | 突然心臓死 | 糸球体症 | 紫斑 | 結膜炎 | 胸腺低形成 | 腎症 | 自己免疫 | 自己免疫性溶血性貧血 | 自然血管腫 | 蕁麻疹 | 血便排泄 | 血小板形態の異常 | 血小板機能の異常 | 血小板減少 | 血管炎 | 角膜炎 | 貧血 | 遅延型過敏症皮膚試験の異常 | 遷出血時間遷延 | 鉄欠乏症貧血 | 関節炎 | 頭蓋内出血 | 骨化過剰 | 髄膜炎 | 鼻出血" ] }, { "id": "NANDO:2200187", "label_en": "Fanconi syndrome", "label_ja": "ファンコーニ症候群", "yomigana": "ふぁんこーにしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200187", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100027", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201039", "label_en": "Homocystinuria type 1", "label_ja": "ホモシスチン尿症I型", "yomigana": "ほもしすちんにょうしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201039", "notificationNumber": "337", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal retinal pigmentation | Abnormality of amino acid metabolism | Abnormality of extrapyramidal motor function | Amblyopia | Anorexia | Anxiety | Arachnodactyly | Arterial thrombosis | Arteriovenous malformation | Ataxia | Atypical behavior | Autistic behavior | Autosomal recessive inheritance | Biconcave vertebral bodies | Brain atrophy | Brittle hair | Cataract | Cerebral ischemia | Childhood onset | Cutis marmorata | Dental crowding | Depression | Disproportionate tall stature | Dysarthria | Dystonia | EEG abnormality | Ectopia lentis | Elevated circulating hepatic transaminase concentration | Esophageal varix | Exotropia | Failure to thrive | Gastrointestinal hemorrhage | Genu valgum | Glaucoma | Global developmental delay | Hemiplegia/hemiparesis | Hepatic steatosis | Hepatomegaly | Hernia | High palate | Homocystinuria | Hyperhomocystinemia | Hypermethioninemia | Hypertension | Hypopigmentation of the skin | Inguinal hernia | Intellectual disability | Intracranial hemorrhage | Joint stiffness | Juvenile onset | Kyphoscoliosis | Kyphosis | Lens subluxation | Limitation of joint mobility | Mitral valve prolapse | Myocardial infarction | Myopia | Neonatal onset | Neurodevelopmental delay | Obsessive-compulsive trait | Optic atrophy | Osteoporosis | Pancreatitis | Parkinsonism | Pectus carinatum | Pectus excavatum | Personality disorder | Pes cavus | Psychosis | Pulmonary embolism | Recurrent fractures | Retinal detachment | Scoliosis | Seizure | Sparse scalp hair | Specific learning disability | Strabismus | Stroke | Subcutaneous hemorrhage | Tall stature | Thromboembolism | Unsteady gait | Urticaria | Venous thrombosis | Visual impairment" ], "symptoms_ja_list": [ "うつ | くも指 | はと胸 | アミノ酸代謝の異常 | ジストニア | パーキンソン症候群 | ヘルニア | ホモシスチン尿 | 不均衡型高身長 | 不安 | 不安定歩行 | 両凹の椎体骨 | 側弯 | 僧帽弁逸脱 | 全般性発達遅滞 | 凹足 | 動脈血栓症 | 動静脈奇形 | 卒中 | 反復性骨折 | 外反膝 | 外斜視 | 大理石皮膚 | 大脳白質の異常 | 大脳虚血 | 常染色体潜性遺伝 | 弱視 | 強迫性形質 | 後側弯 | 後弯 | 心筋梗塞 | 性格異常 | 成長障害 (成長不全) | 斜視 | 構音障害 | 歯混雑 | 水晶体 亜脱臼 | 漏斗胸 | 片麻痺/片側不全麻痺 | 特異的学習障害 | 異所性水晶体 | 疎な頭髪 | 発作 | 白内障 | 皮下出血 | 皮膚低色素 | 知的障害 | 神経発生遅延 | 精神病 | 網膜剥離 | 網膜色素異常 | 緑内障 | 肝トランスアミナーゼ上昇 | 肝腫 | 肺塞栓症 | 胃腸出血 | 脂肪肝 | 脆い毛髪 | 脳波異常 | 脳萎縮 | 膵炎 | 自閉性行動 | 蕁麻疹 | 血栓塞栓症 | 行動異常 | 視力障害 | 視神経萎縮 | 近視 | 運動失調 | 錐体外路運動機能の異常 | 関節拘縮 | 関節運動制限 | 静脈血栓症 | 頭蓋内出血 | 食思不振 | 食道静脈瘤 | 骨粗鬆症 | 高ホモシスチン血症 | 高メチオニン血症mia | 高口蓋 | 高血圧 | 高身長 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200292", "label_en": "Restrictive cardiomyopathy", "label_ja": "拘束型心筋症", "yomigana": "こうそくがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200292", "notificationNumber": "59", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100027", "label_en": "Fanconi syndrome", "label_ja": "ファンコーニ症候群", "yomigana": "ふぁんこーにしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100027", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200540", "label_en": "Neurodegeneration with brain iron accumulation type 4", "label_ja": "脳内鉄沈着神経変性症4型", "yomigana": "のうないてつちんちゃくしんけいへんせいしょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200540", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal corpus striatum morphology | Abnormal dentate nucleus morphology | Abnormal globus pallidus morphology | Abnormal lower motor neuron morphology | Abnormal pancreas morphology | Abnormal pyramidal sign | Abnormal retinal pigmentation | Abnormal saccadic eye movements | Abnormal thalamic MRI signal intensity | Abnormality of extrapyramidal motor function | Abnormality of the nervous system | Adult onset | Akinesia | Anemia | Apathy | Ataxia | Atypical behavior | Autosomal dominant inheritance | Autosomal recessive inheritance | Babinski sign | Blepharospasm | Bowel incontinence | Bradykinesia | Cerebellar atrophy | Childhood onset | Chorea | Cirrhosis | Cognitive impairment | Cogwheel rigidity | Congestive heart failure | Craniofacial dystonia | Decreased circulating ceruloplasmin concentration | Decreased circulating copper concentration | Delayed speech and language development | Dementia | Depression | Diabetes mellitus | Distal amyotrophy | Distal muscle weakness | Dysarthria | Dysphagia | Dystonia | Elevated circulating creatine kinase activity | Elevated hepatic iron concentration | Emotional lability | Eye of the tiger anomaly of globus pallidus | Facial grimacing | Frequent falls | Gait ataxia | Gait disturbance | Generalized dystonia | Global developmental delay | Hand tremor | Hepatic fibrosis | Hyperactive deep tendon reflexes | Hyperreflexia | Hypochromic microcytic anemia | Hyporeflexia | Impulsivity | Increased circulating ferritin concentration | Involuntary movements | Iron accumulation in brain | Juvenile onset | Lewy bodies | Limb ataxia | Loss of ambulation | Macular degeneration | Memory impairment | Mental deterioration | Motor axonal neuropathy | Muscle weakness | Neurodegeneration | Nystagmus | Optic atrophy | Oromandibular dystonia | Parkinsonism | Pes cavus | Postural instability | Progressive | Progressive visual loss | Refractory anemia | Respiratory insufficiency | Retinal degeneration | Rigidity | Scanning speech | Scapular winging | Shuffling gait | Spastic paraparesis | Spasticity | Torticollis | Tremor | Urinary incontinence | Young adult onset" ], "symptoms_ja_list": [ "Babinski サイン | Dementia | Lewy 小体 | うっ血性心不全 | うつ | しかめ顔 | ひきずり歩行 | ジストニア | パーキンソン症候群 | 下部運動 ニューロンの異常 | 不随意運動 | 低色素性小球性貧血 | 低銅血症 | 全般性発達遅滞 | 全身性ジストニア | 凹足 | 反射亢進 | 反射低下 | 口下顎ジストニア | 呼吸不全 | 嚥下障害 | 四肢失調 | 姿勢不安定 | 小脳萎縮 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 情動不安定 | 手振戦 | 振戦 | 斜頚 | 断続性眼球運動 | 断綴言 | 構音障害 | 歩行失調 | 歩行障害 | 歯状核の異常 | 歯車様硬直 | 淡蒼球の異常 | 淡蒼球の虎の眼奇形 | 深部腱反射亢進 | 無動症 | 無関心", "感情鈍磨 | 異常な視床MRI シグナル強度 | 痙性 | 痙性対不全麻痺 | 発語および言語発達遅延 | 眼振 | 眼瞼スパスム | 知能悪化 | 硬直 | 神経変性 | 神経系の異常 | 筋虚弱 | 糖尿病 | 網膜変性 | 網膜色素異常 | 線条体の異常 | 翼状肩甲骨 | 肝の鉄濃度上昇 | 肝硬変 | 肝線維症 | 脳内鉄沈着 | 膵形態の異常 | 舞踏病 | 血清 creatine phosphokinase上昇 | 血清セルロプラスミン減少 | 血清フェリチン増加 | 行動異常 | 衝動性 | 視神経萎縮 | 記憶障害 | 認知障害 | 貧血 | 進行性歩行不安定 | 進行性視力喪失 | 運動失調 | 運動性軸索ニューロパチー | 運動緩徐 | 遠位筋萎縮 | 遠位筋虚弱 | 遺尿 | 遺糞症 | 錐体外路運動機能の異常 | 錐体路運動機能の異常 | 難治性貧血 | 頭蓋顔面ジストニア | 頻回の転倒 | 高度/補酵素活性異常 | 黄斑変性" ] }, { "id": "NANDO:1200336", "label_en": "RIDDLE syndrome", "label_ja": "RIDDLE症候群", "yomigana": "りどるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200336", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abdominal pain | Abnormal cerebral white matter morphology | Abnormal facial shape | Abnormal pulmonary interstitial morphology | Arthritis | Ataxia | Autosomal recessive inheritance | Bronchitis | Chromosomal breakage induced by ionizing radiation | Chronic sinusitis | Clumsiness | Conjunctival telangiectasia | Decreased circulating IgA concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Demyelinating peripheral neuropathy | Diarrhea | Dry skin | Elevated circulating alpha-fetoprotein concentration | Emotional lability | Enuresis nocturna | Erythema | Gait disturbance | Generalized lymphadenopathy | Global developmental delay | Headache | Immunodeficiency | Increased sensitivity to ionizing radiation | Microcephaly | Mild global developmental delay | Neonatal asphyxia | Otitis media | Pneumonia | Poor hand-eye coordination | Pulmonary fibrosis | Recurrent fever | Recurrent pneumonia | Recurrent sinusitis | Recurrent viral infections | Respiratory failure | Restrictive ventilatory defect | Short stature | Specific learning disability | Telangiectasia | Weight loss" ], "symptoms_ja_list": [ "IgA欠乏症 | IgG欠乏症 | IgM欠乏症 | α-フェトプロテイン上昇 | 下痢 | 不器用 | 中耳炎 | 乾いた皮膚 | 低身長 | 体重喪失 | 免疫不全 | 全般性発達遅滞 | 全身性リンパ節腫大 | 反復性ウイルス感染症 | 反復性副鼻腔炎 | 反復性肺炎 | 呼吸不全 | 夜尿 | 大脳白質の異常 | 小頭 | 常染色体潜性遺伝 | 情動不安定 | 慢性副鼻腔炎 | 手-眼協調運動不全 | 拘束性肺疾患 | 新生児仮死 | 歩行障害 | 毛細血管拡張 | 気管支炎 | 特異的学習障害 | 異常な顔の形 | 発熱エピソード | 紅斑 | 結膜毛細血管拡張 | 肺炎 | 肺線維症 | 脱髄性末梢運動神経ニューロパチー | 腹痛 | 軽度の全般性発達遅滞 | 運動失調 | 間質性肺疾患 | 関節炎 | 電離放射線により誘発される染色体断裂 | 電離放射線への感受性の増加 | 頭痛" ] }, { "id": "NANDO:2100210", "label_en": "Hyper eosinophilic syndrome", "label_ja": "好酸球増加症", "yomigana": "こうさんきゅうぞうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100210", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200615", "label_en": "Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis", "label_ja": "道化師様魚鱗癬以外の常染色体劣性遺伝性魚鱗癬", "yomigana": "どうけしようぎょりんせんいがいのじょうせんしょくたいれっせいいでんせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200615", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200604", "label_en": "Abetalipoproteinemia", "label_ja": "無βリポタンパク血症", "yomigana": "むべーたりぽたんぱくけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200604", "notificationNumber": "38", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100171", "symptoms_en_list": [ "Abetalipoproteinemia | Abnormal bleeding | Abnormal retinal pigmentation | Abnormality of the nervous system | Acanthocytosis | Anemia | Areflexia | Ataxia | Autosomal recessive inheritance | Babinski sign | Blindness | Broad-based gait | CNS demyelination | Cardiomegaly | Chronic diarrhea | Cirrhosis | Color vision defect | Congestive heart failure | Corneal ulceration | Decreased circulating HDL-C concentration | Decreased circulating LDL-C concentration | Decreased circulating vitamin D concentration | Decreased circulating vitamin E concentration | Distal lower limb muscle weakness | Dysarthria | Dysmetria | Elevated circulating hepatic transaminase concentration | Failure to thrive | Fat malabsorption | Fundus hypopigmentation | Gait ataxia | Hepatic fibrosis | Hepatic steatosis | Hepatomegaly | Hyperbilirubinemia | Hypoalbuminemia | Hypocholesterolemia | Hypothyroidism | Hypotriglyceridemia | Impaired distal proprioception | Impaired proprioception | Impaired vibratory sensation | Keratoconjunctivitis sicca | Kyphoscoliosis | Myalgia | Myopathy | Nyctalopia | Ophthalmoplegia | Osteopenia | Peripheral demyelination | Pes cavus | Positive Romberg sign | Progressive visual loss | Prolonged prothrombin time | Ptosis | Reduced circulating vitamin A concentration | Respiratory failure | Reticulocytosis | Retinal degeneration | Retinopathy | Rod-cone dystrophy | Scotoma | Steatorrhea | Steppage gait | Talipes equinovarus | Upper motor neuron dysfunction | Vomiting" ], "symptoms_ja_list": [ "Babinski サイン | Romberg サイン陽性 | うっ血性心不全 | ビタミンA欠乏症 | ビタミンD欠乏症 | ビタミンE欠乏症 | プロトロンビン時間遷延 | ミオパチー | 中枢神経脱髄 | 乾燥性 | 低βリポ蛋白血症 | 低コレステロール血症 | 低トリグリセリド血症 | 内反尖足 | 凹足 | 呼吸不全 | 嘔吐 | 固有覚障害 | 夜盲症 | 常染色体潜性遺伝 | 幅広歩行 | 後側弯 | 心拡大 | 慢性下痢 | 成長障害 (成長不全) | 振動覚障害 | 暗点 | 有棘赤血球増加 | 末梢神経脱髄 | 構音障害 | 歩行失調 | 測定障害 | 無βリポ蛋白血症 | 無反射 | 甲状腺機能低下症 | 異常な出血 | 皮質脊髄路機能障害 | 盲 | 眼底低色素 | 眼瞼下垂 | 眼筋麻痺 | 神経系の異常 | 筋痛 | 網状赤血球増多症 | 網膜変性 | 網膜症 | 網膜色素異常 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝線維症 | 肝腫 | 脂肪便 | 脂肪吸収不全 | 脂肪肝 | 色素性網膜炎 | 色覚異常 | 角膜潰瘍 | 貧血 | 進行性視力喪失 | 運動失調 | 遠位下肢筋虚弱 | 遠位固有覚障害 | 骨減少症 | 高αリポ蛋白血症 | 高アルブミン血症 | 高ビリルビン血症 | 鶏歩" ] }, { "id": "NANDO:2201059", "label_en": "Psoriatic juvenile idiopathic arthritis", "label_ja": "若年性特発性関節炎（乾癬性関節炎）", "yomigana": "じゃくねんせいとくはつせいかんせつえん（かんせんせいかんせつえん）", "url": "http://nanbyodata.jp/ontology/NANDO_2201059", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200240", "label_en": "Pustular psoriasis", "label_ja": "膿疱性乾癬（汎発型）", "yomigana": "のうほうせいかんせん（はんぱつがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200240", "notificationNumber": "37", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200859", "label_en": "Facioscapulohumeral muscular dystrophy", "label_ja": "顔面肩甲上腕型筋ジストロフィー", "yomigana": "がんめんけんこうじょうわんがたきんじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2200859", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100233", "symptoms_en_list": [ "Abdominal wall muscle weakness | Abnormal retinal vascular morphology | Camptocormia | Chronic pain | Complete right bundle branch block | Conjunctivitis | Decreased facial expression | Distal upper limb muscle weakness | EMG: myopathic abnormalities | Elevated circulating creatine kinase activity | Foot dorsiflexor weakness | Frequent falls | Gait disturbance | Hyperlordosis | Keratitis | Limb-girdle muscle weakness | Mask-like facies | Pectoralis amyotrophy | Pectus excavatum | Progressive muscle weakness | Protuberant abdomen | Respiratory insufficiency | Restrictive ventilatory defect | Retinal detachment | Scapular winging | Scoliosis | Seizure | Sensorineural hearing impairment | Serous retinal detachment | Skeletal muscle atrophy | Steppage gait | Straight clavicle | Supraventricular arrhythmia | Visual loss" ], "symptoms_ja_list": [ "上室性不整脈 | 仮面様顔貌 | 側弯 | 前屈症 | 前弯 | 右脚ブロック | 呼吸不全 | 感音難聴 | 慢性疼痛 | 拘束性肺疾患 | 歩行障害 | 滲出性網膜剥離 | 漏斗胸 | 発作 | 真っ直ぐな鎖骨 | 筋萎縮 | 筋電図: ミオパチー異常 | 結膜炎 | 網膜剥離 | 網膜血管の異常 | 翼状肩甲骨 | 肢帯筋虚弱 | 胸筋筋萎縮 | 腹筋虚弱 | 腹部突出 | 血清 creatine phosphokinase上昇 | 表情の減少 | 視力喪失 | 角膜炎 | 足背屈筋虚弱 | 進行性筋虚弱 | 遠位上肢筋虚弱 | 頻回の転倒 | 鶏歩" ] }, { "id": "NANDO:2100205", "label_en": "Predominantly antibody deficiency", "label_ja": "液性免疫不全を主とする疾患", "yomigana": "えきせいめんえきふぜんをしゅとするしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100205", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200064", "label_en": "Leiomyosarcoma", "label_ja": "平滑筋肉腫", "yomigana": "へいかつきんにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200064", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201094", "label_en": "Neonatal-onset argininosuccinate synthetase deficiency", "label_ja": "新生児期発症型アルギニノコハク酸合成酵素欠損症", "yomigana": "しんせいじきはっしょうがたあるぎにのこはくさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201094", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201113", "label_en": "Acute-onset propionic acidemia", "label_ja": "急性発症型プロピオン酸血症", "yomigana": "きゅうせいはっしょうがたぷろぴおんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201113", "notificationNumber": "106", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200678", "label_en": "Prader-Willi syndrome", "label_ja": "プラダー・ウィリ症候群", "yomigana": "ぷらだー・うぃりしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200678", "notificationNumber": "193", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abdominal obesity | Abnormal cerebral white matter morphology | Abnormal facial shape | Abnormal rapid eye movement sleep | Abnormality of the dentition | Accelerated skeletal maturation | Adrenal insufficiency | Adrenocorticotropic hormone deficiency | Almond-shaped palpebral fissure | Anxiety | Attention deficit hyperactivity disorder | Atypical behavior | Autism | Autistic behavior | Autosomal dominant inheritance | Borderline intellectual disability | Breech presentation | Carious teeth | Central adrenal insufficiency | Central hypothyroidism | Central sleep apnea | Chronic constipation | Clitoral hypoplasia | Congenital onset | Cryptorchidism | Cutaneous photosensitivity | Decreased circulating HDL-C concentration | Decreased fetal movement | Decreased muscle mass | Decreased response to growth hormone stimulation test | Decreased testicular size | Delayed puberty | Delayed speech and language development | Dental crowding | Dolichocephaly | Downturned corners of mouth | Dysphagia | Edema | Enamel hypoplasia | Erysipelas | Esotropia | Excessive daytime somnolence | External genital hypoplasia | Failure to thrive | Failure to thrive in infancy | Feeding difficulties in infancy | Fetal onset | Frontal upsweep of hair | Gastroesophageal reflux | Gastroparesis | Generalized hypopigmentation | Generalized hypotonia | Genu valgum | Global developmental delay | Growth delay | Hip dysplasia | Hypercholesterolemia | Hyperinsulinemia | Hypermetropia | Hypernasal speech | Hypertension | Hypertriglyceridemia | Hypogonadism | Hypogonadotropic hypogonadism | Hypopigmentation of hair | Hypopigmentation of the skin | Hypoplastic labia majora | Hypoplastic labia minora | Hyporeflexia | Hypotonia | Hypoventilation | Impaired pain sensation | Impaired temperature sensation | Increased susceptibility to fractures | Infertility | Intellectual disability | Intrauterine growth retardation | Kyphosis | Micropenis | Mild intellectual disability | Moderate intellectual disability | Motor delay | Myopia | Narrow forehead | Narrow nasal bridge | Narrow palm | Nasogastric tube feeding in infancy | Neonatal hypotonia | Obesity | Obstructive sleep apnea | Oligohydramnios | Oligomenorrhea | Osteopenia | Osteoporosis | Periodontitis | Perisylvian polymicrogyria | Pituitary hypothyroidism | Polyhydramnios | Polyphagia | Poor fine motor coordination | Poor gross motor coordination | Poor suck | Precocious puberty | Premature adrenarche | Premature pubarche | Primary amenorrhea | Psychosis | Radial deviation of finger | Recurrent respiratory infections | Scoliosis | Seizure | Self-injurious behavior | Short foot | Short palm | Short stature | Skin-picking | Sleep apnea | Sleep disturbance | Small hand | Small pituitary gland | Small scrotum | Specific learning disability | Sporadic | Strabismus | Stroke | Syndactyly | Temperature instability | Thin upper lip vermilion | Type II diabetes mellitus | Upslanted palpebral fissure | Ventriculomegaly | Vomiting | Weak cry | Xerostomia" ], "symptoms_ja_list": [ "II 型糖尿病 | アーモンド型眼瞼裂 | 下垂体甲状腺機能低下症 | 不妊 | 不安 | 中枢性副腎不全 | 中枢性甲状腺機能低下症 | 中枢性睡眠時無呼吸 | 丹毒 | 乳児期の成長障害 (成長不全) | 乳児期の鼻腔栄養 | 低ゴナドトロピン性性腺機能低下症 | 低換気 | 低身長 | 体温不安定 | 停留精巣 | 側弯 | 傍シルビウス裂多小脳回 | 全般性発達遅滞 | 全身性低色素 | 全身性筋緊張低下 | 内斜視 | 前頭部のなで上げた毛髪 | 副腎不全 | 副腎皮質刺激ホルモン欠乏症 | 副腎皮質性思春期早発 | 卒中 | 原発性無月経 | 反射低下 | 反復性呼吸器感染症 | 口内乾燥症 | 口角下垂 | 合指趾症 | 吸啜不全 | 嗜眠 | 嘔吐 | 嚥下障害 | 外反膝 | 外性器低形成 | 大脳白質の異常 | 大陰唇低形成 | 子宮内成長遅滞 | 孤発性 | 小さい下垂体 | 小さい手 | 小陰唇低形成 | 小陰茎 | 希発月経 | 常染色体顕性遺伝 | 弱い泣き声 | 後弯 | 微細運動協調不全 | 思春期早発 | 思春期遅発 | 性腺機能低下症 | 恥毛早発 | 慢性便秘 | 成長ホルモン欠乏症 | 成長遅滞 | 成長障害 (成長不全) | 指の橈側偏位 | 斜視 | 新生児筋緊張低下 | 易骨折性の増加 | 歯の異常 | 歯エナメル質低形成 | 歯周炎 | 歯混雑 | 毛髪低色素 | 注意力欠陥多動性疾患 | 浮腫 | 温度覚障害 | 特異的学習障害 | 狭い手掌 | 狭い額 | 狭い鼻梁 | 異常な急速眼球運動 (REM) 睡眠 | 異常な顔の形 | 痛覚障害 | 発作 | 発語および言語発達遅延 | 皮膚ピッキング | 皮膚低色素 | 皮膚光線過敏症 | 眼瞼裂斜上 | 睡眠時無呼吸 | 睡眠障害 | 知的障害 | 知的障害", "中道動脈瘤 | 知的障害", "境界域 | 知的障害", "軽度 | 短い手掌 | 短い足 | 筋緊張低下 | 筋量減少 | 粗大運動協調不全 | 精巣サイズ減少 | 精神病 | 羊水過多 | 羊水過少 | 股関節異形成 | 肥満 | 胃不全麻痺 | 胃食道逆流 | 胎動減少 | 脳室拡大 | 腹部肥満 | 自傷行動 | 自閉性行動 | 自閉症 | 薄い上口唇唇紅部 | 行動異常 | 近視 | 運動発達遅滞 | 過食症 | 遠視 | 長頭 | 閉塞性睡眠時無呼吸 | 陰嚢低形成 | 陰核低形成 | 食餌摂取障害 in infancy | 骨成熟促進 | 骨減少症 | 骨盤位 | 骨粗鬆症 | 高αリポ蛋白血症 | 高インスリン血症 | 高コレステロール血症 | 高トリグリセリド血症 | 高血圧 | 鼻声発語 | 齲歯" ] }, { "id": "NANDO:1200983", "label_en": "Inherited glycosylphosphatidylinositol deficiency", "label_ja": "先天性グリコシルホスファチジルイノシトール欠損症", "yomigana": "せんてんせいぐりこしるほすふぁちじるいのしとーるけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200983", "notificationNumber": "320", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal bone marrow cell morphology | Atonic seizure | Autosomal recessive inheritance | Childhood onset | Delayed speech and language development | Generalized non-motor (absence) seizure | Hepatomegaly | Infantile onset | Portal hypertension | Splenomegaly | Venous thrombosis" ], "symptoms_ja_list": [ "常染色体潜性遺伝 | 欠神発作 | 発語および言語発達遅延 | 肝腫 | 脱力発作 | 脾腫 | 門脈圧亢進 | 静脈血栓症 | 骨髄細胞形態の異常" ] }, { "id": "NANDO:2100104", "label_en": "Chronic cor pulmonale", "label_ja": "慢性肺性心", "yomigana": "まんせいはいせいしん", "url": "http://nanbyodata.jp/ontology/NANDO_2100104", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200150", "label_en": "Chronic renal failure due to acute tubular necrosis", "label_ja": "慢性腎不全（急性尿細管壊死によるものに限る。）", "yomigana": "まんせいじんふぜん（きゅうせいにょうさいかんえしによるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200150", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100023", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200129", "label_en": "Beta-mannosidosis", "label_ja": "β-マンノシドーシス", "yomigana": "べーたまんのしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200129", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal facial shape | Abnormal speech pattern | Aggressive behavior | Angiokeratoma | Autosomal recessive inheritance | Demyelinating peripheral neuropathy | Generalized hypotonia | Hearing impairment | Hyperactivity | Hypoplasia of the abdominal wall musculature | Hypotonia | Increased urinary disaccharide excretion | Infantile onset | Intellectual disability | Recurrent infections | Recurrent respiratory infections | Seizure | Tortuosity of conjunctival vessels" ], "symptoms_ja_list": [ "全身性筋緊張低下 | 反復性呼吸器感染症 | 反復性感染症 | 多動 | 尿中二糖類排泄増加 | 常染色体潜性遺伝 | 攻撃的行動 | 異常な顔の形 | 発作 | 知的障害 | 神経学的発語障害 | 筋緊張低下 | 結膜血管蛇行 | 脱髄性末梢運動神経ニューロパチー | 腹壁筋低形成 | 被角血管腫 | 難聴" ] }, { "id": "NANDO:1200483", "label_en": "Congenital fiber-type disproportion myopathy", "label_ja": "先天性筋線維タイプ不均等症", "yomigana": "せんてんせいきんせんいたいぷふきんとうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200483", "notificationNumber": "111", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal heart morphology | Abnormal skeletal morphology | Abnormality of the respiratory system | Ankle flexion contracture | Areflexia | Aspiration pneumonia | Congenital hip dislocation | Cor pulmonale | Decreased fetal movement | Dental crowding | Diminished deep tendon reflex | Dysphagia | Easy fatigability | Elbow flexion contracture | Failure to thrive | Fatigue | Feeding difficulties | Flexion contracture | Flexion contracture of finger | Foot dorsiflexor weakness | Generalized muscle weakness | Headache | High palate | Hip contracture | Hoarse voice | Hypercapnia | Hyperlordosis | Hypoplasia of the musculature | Hypotonia | Hypoxemia | Impaired mastication | Intercostal muscle weakness | Knee flexion contracture | Kyphoscoliosis | Long face | Micrognathia | Motor delay | Myopathic facies | Nasogastric tube feeding in infancy | Ophthalmoplegia | Pectus excavatum | Pelvic girdle muscle weakness | Pes cavus | Polyhydramnios | Poor appetite | Poor head control | Progressive muscle weakness | Recurrent respiratory infections | Respiratory failure | Respiratory insufficiency due to muscle weakness | Scoliosis | Shoulder girdle muscle weakness | Sleep disturbance | Talipes equinovarus | Type 1 muscle fiber atrophy | Weakness of muscles of respiration | Weight loss" ], "symptoms_ja_list": [ "1型筋線維萎縮 | ミオパチー顔貌 | 乳児期の鼻腔栄養 | 低酸素血症への感受性の減少 | 体重喪失 | 側弯 | 先天性股関節脱臼 | 全身性筋虚弱 | 内反尖足 | 凹足 | 前弯 | 反復性呼吸器感染症 | 呼吸不全 | 呼吸器の異常 | 呼吸筋虚弱 | 咀嚼こんな | 嗄声 | 嚥下障害 | 小顎 | 屈曲拘縮 | 後側弯 | 心形態の異常 | 成長障害 (成長不全) | 指屈曲拘縮 | 易疲労性 | 歯混雑 | 漏斗胸 | 無反射 | 疲労 | 眼筋麻痺 | 睡眠障害 | 筋低形成 | 筋緊張低下 | 筋虚弱による呼吸不全 | 羊水過多 | 肋間筋虚弱 | 肘屈曲拘縮 | 股関節拘縮 | 肩帯筋虚弱 | 肺性心 | 胎動減少 | 腱反射減少 | 膝屈曲拘縮 | 誤嚥性肺炎 | 足背屈筋虚弱 | 足関節拘縮 | 進行性筋虚弱 | 運動発達遅滞 | 長い顔 | 頭痛 | 頸定不全 | 食思不振 | 食餌摂取障害 | 骨格形態の異常 | 骨盤帯筋筋虚弱 | 高二酸化炭素症 | 高口蓋" ] }, { "id": "NANDO:2201321", "label_en": "Secondary progressive multiple sclerosis", "label_ja": "二次性進行型多発性硬化症", "yomigana": "にじせいしんこうがたたはつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201321", "notificationNumber": "62", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100250", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200966", "label_en": "Other chromosomal abnormalities", "label_ja": "9から14までに掲げるもののほか、常染色体異常", "yomigana": "9から14までにかかげるもののほか、じょうせんしょくたいいじょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200966", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201172", "label_en": "neonatal-onset form without congenital anomalies Glutaric Acidaemia type 2", "label_ja": "グルタル酸血症2型乳幼児・学童期発症型", "yomigana": "ぐるたるさんけっしょう2がたにゅうようじ・がくどうきはっしょうがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201172", "notificationNumber": "250", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200204", "label_en": "Subacute sclerosing panencephalitis in infants or adults", "label_ja": "亜急性硬化性全脳炎（乳児あるいは成人例）", "yomigana": "あきゅうせいこうかせいぜんのうえん（にゅうじあるいはせいじんれい）", "url": "http://nanbyodata.jp/ontology/NANDO_1200204", "notificationNumber": "24", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100289", "label_en": "Ectodermal dysplsia", "label_ja": "外胚葉形成不全", "yomigana": "がいはいようけいせいふぜん", "url": "http://nanbyodata.jp/ontology/NANDO_2100289", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201042", "label_en": "Hypertrophic obstructive cardiomyopathy", "label_ja": "閉塞性肥大型心筋症", "yomigana": "へいそくせいひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201042", "notificationNumber": "88", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100054", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200232", "label_en": "Dilated cardiomyopathy", "label_ja": "拡張型心筋症", "yomigana": "かくちょうがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200232", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100057", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200982", "label_en": "Sepiapterin reductase deficiency", "label_ja": "セピアプテリン還元酵素欠損症", "yomigana": "せぴあぷてりんかんげんこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200982", "notificationNumber": "319", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of the nose | Aggressive behavior | Ataxia | Atypical behavior | Autosomal dominant inheritance | Autosomal recessive inheritance | Axial hypotonia | Bradykinesia | Cerebral palsy | Choreoathetosis | Cognitive impairment | Delayed speech and language development | Depression | Drowsiness | Dysarthria | Dystonia | Frequent falls | Global developmental delay | Growth delay | Hyperactivity | Hyperhidrosis | Hyperphenylalaninemia | Hyperreflexia | Hypomimic face | Infantile onset | Intellectual disability | Limb hypertonia | Microcephaly | Motor delay | Muscle weakness | Oculogyric crisis | Oculomotor apraxia | Ptosis | Rigidity | Seizure | Sleep disturbance | Small for gestational age | Spasticity | Temperature instability | Transient hyperphenylalaninemia | Tremor" ], "symptoms_ja_list": [ "うつ | ジストニア | 一過性高フェニールアラニン血症 | 仮面顔 | 体幹の筋緊張低下 | 体温不安定 | 全般性発達遅滞 | 反射亢進 | 四肢筋緊張亢進 | 在胎月齢より小さい児 | 多動 | 多汗 | 小頭 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 成長遅滞 | 振戦 | 攻撃的行動 | 構音障害 | 注視クリーゼ | 痙性 | 発作 | 発語および言語発達遅延 | 眠気 | 眼球運動失行症 | 眼瞼下垂 | 睡眠障害 | 知的障害 | 硬直 | 筋虚弱 | 脳性麻痺 | 舞踏病アテトーゼ | 行動異常 | 認知障害 | 運動失調 | 運動発達遅滞 | 運動緩徐 | 頻回の転倒 | 高フェニールアラニン血症 | 鼻の異常" ] }, { "id": "NANDO:2200493", "label_en": "Beta-ketothiolase deficiency", "label_ja": "β-ケトチオラーゼ欠損症", "yomigana": "べーたけとちおらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200493", "notificationNumber": "107", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormal metabolic brain imaging by MRS | Abnormality of mental function | Acidosis | Agitation | Anorexia | Apathy | Ataxia | Autosomal recessive inheritance | Coma | Cough | Dehydration | Diarrhea | Edema | Episodic ketoacidosis | Excessive daytime somnolence | Extrapyramidal dyskinesia | Fever | Hepatomegaly | Hyperammonemia | Hyperglycemia | Hypertension | Hyperuricemia | Hypoglycemia | Hyporeflexia | Hypotension | Hypotonia | Increased circulating lactate concentration | Increased total leukocyte count | Intellectual disability | Ketoacidosis | Ketonuria | Metabolic acidosis | Mild intellectual disability | Motor delay | Oral aversion | Pallor | Reduced consciousness | Seizure | Severe intellectual disability | Spasticity | Tachypnea | Thrombocytosis | Vomiting | Weight loss" ], "symptoms_ja_list": [ "MRSでの異常な代謝性脳画像 | アシドーシス | ケトアシドーシス | ケトアシドーシスエピソード | ケトン尿 | 下痢 | 不穏 | 代謝性アシドーシス | 低血圧 | 低血糖 | 体重喪失 | 反射低下 | 口嫌悪 | 嗜眠 | 嘔吐 | 外層 | 多呼吸 | 常染色体潜性遺伝 | 意識減少/混乱 | 昏睡 | 浮腫 | 無関心", "感情鈍磨 | 痙性 | 発作 | 発熱 | 白血球増多症 | 知的障害 | 知的障害", "軽度 | 知的障害", "重度 | 筋緊張低下 | 肝腫 | 脱水 | 蒼白 | 血小板増多症 | 血清乳酸増加 | 運動失調 | 運動発達遅滞 | 錐体外路ジスキネジア | 食思不振 | 高アンモニア血症 | 高尿酸血症 | 高次精神機能の異常 | 高血圧 | 高血糖" ] }, { "id": "NANDO:1200684", "label_en": "5p deletion syndrome", "label_ja": "5p欠失症候群", "yomigana": "5ぴーけっしつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200684", "notificationNumber": "199", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal pinna morphology | Abnormal respiratory system physiology | Abnormality of bone mineral density | Abnormality of the kidney | Abnormality of the voice | Abnormally high-pitched voice | Aggressive behavior | Anterior open-bite malocclusion | Anxiety | Autism | Bifid uvula | Cat cry | Cataract | Conspicuously happy disposition | Cryptorchidism | Delayed speech and language development | Diastasis recti | Downslanted palpebral fissures | Downturned corners of mouth | Echolalia | Epicanthus | Facial asymmetry | Facial grimacing | Feeding difficulties in infancy | Finger syndactyly | Gait disturbance | Gastroesophageal reflux | Growth delay | Hearing impairment | High axial triradius | High palate | Hyperactivity | Hyperacusis | Hypertelorism | Hypertonia | Hypospadias | Hypotonia | Inguinal hernia | Intellectual disability | Intrauterine growth retardation | Joint hypermobility | Long face | Low-set ears | Metatarsus adductus | Microcephaly | Microretrognathia | Motor stereotypy | Myopia | Narrow face | Neonatal hypotonia | Oppositional defiant disorder | Optic atrophy | Orofacial cleft | Overfriendliness | Pes planus | Posteriorly rotated ears | Preauricular skin tag | Premature graying of hair | Prominent supraorbital ridges | Recurrent fractures | Recurrent infections in infancy and early childhood | Round face | Scoliosis | Self-mutilation | Severe global developmental delay | Severe intellectual disability | Short attention span | Short metacarpal | Short metatarsal | Short neck | Short philtrum | Short stature | Single transverse palmar crease | Small for gestational age | Small hand | Sporadic | Stenosis of the external auditory canal | Strabismus | Syndactyly | Thick lower lip vermilion | Wide nasal bridge" ], "symptoms_ja_list": [ "しかめ顔 | 不安 | 両眼隔離 | 丸い顔 | 乳児期および早期小児期の反復性感染症 | 二分した口蓋垂 | 低身長 | 停留精巣 | 側弯 | 内眼角贅皮 | 内転中足骨 | 分厚い下口唇唇紅部 | 前方開放咬合性不正咬合 | 反復性骨折 | 反響言語 | 口腔裂 | 口角下垂 | 合指症 | 合指趾症 | 在胎月齢より小さい児 | 声の異常 | 外耳道狭窄 | 多動 | 子宮内成長遅滞 | 孤発性 | 小さい手 | 小頭 | 小顎後退 | 尿道下裂 | 常同行動 | 幅広い鼻梁 | 循環器系の形態異常 | 成長遅滞 | 扁平足 | 手掌横線 | 攻撃的行動 | 敵対的反抗疾患 | 斜視 | 新生児筋緊張低下 | 早発性毛髪白髪 | 機能的呼吸異常 | 歩行障害 | 狭い顔 | 猫泣き | 発語および言語発達遅延 | 白内障 | 目立つ眼窩上縁 | 眼瞼裂斜下 | 知的障害 | 知的障害", "重度 | 短い中手骨 | 短い中足骨 | 短い人中 | 短い注意期間 | 短い頸部 | 筋緊張亢進 | 筋緊張低下 | 耳介の異常 | 耳介低位 | 耳介前皮膚肉柱 | 耳介後方回転 | 聴覚過敏 | 胃食道逆流 | 腎異常 | 腹直筋離開 | 自己切断 | 自閉症 | 著しい幸せな性質 | 視神経萎縮 | 軸三叉高位 | 近視 | 重度の全般性発達遅滞 | 長い顔 | 関節過動 | 難聴 | 顔面非対称 | 食餌摂取障害 in infancy | 馴れ馴れしさ | 骨ミネラル濃度の異常 | 高口蓋 | 高音の声 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200987", "label_en": "Keratinopathic ichthyosis", "label_ja": "ケラチン症性魚鱗癬", "yomigana": "けらちんしょうせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_2200987", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201222", "label_en": "Type 3 Farber disease", "label_ja": "軽症型ファーバー病", "yomigana": "けいしょうがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201222", "notificationNumber": "123", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200243", "label_en": "Abnormal origin of right coronary artery from pulmonary artery", "label_ja": "右冠動脈肺動脈起始症", "yomigana": "みぎかんどうみゃくはいどうみゃくきししょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200243", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100067", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200634", "label_en": "Mucous membrane pemphigoid", "label_ja": "粘膜類天疱瘡", "yomigana": "ねんまくるいてんぽうそう", "url": "http://nanbyodata.jp/ontology/NANDO_1200634", "notificationNumber": "162", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Atypical scarring of skin | Autoimmunity | Blindness | Corneal opacity | Gingivitis | Oral mucosal blisters" ], "symptoms_ja_list": [ "口腔粘膜水泡 | 歯肉炎 | 異常な皮膚水泡 | 盲 | 自己免疫 | 角膜混濁 | 非典型的皮膚瘢痕" ] }, { "id": "NANDO:1201013", "label_en": "Polycyclic adult onset Still's disease", "label_ja": "多周期性全身型成人スチル病", "yomigana": "たしゅうきせいぜんしんがたせいじんすちるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201013", "notificationNumber": "54", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201079", "label_en": "Intermediate maple syrup urine disease", "label_ja": "中間型メープルシロップ尿症", "yomigana": "ちゅうかんがためーぷるしろっぷにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201079", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200288", "label_en": "Interruption of aortic arch complex", "label_ja": "大動脈弓離断複合", "yomigana": "だいどうみゃくきゅうりだんふくごう", "url": "http://nanbyodata.jp/ontology/NANDO_2200288", "notificationNumber": "57", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100099", "symptoms_en_list": [ "Abnormal heart morphology | Aortic regurgitation | Aortic valve atresia | Aortopulmonary window | Bicuspid aortic valve | Complete right bundle branch block | Congestive heart failure | Cyanosis | Double outlet right ventricle | Exertional dyspnea | Feeding difficulties in infancy | Headache | Hypertension | Intermittent claudication | Left ventricular hypertrophy | Patent ductus arteriosus | Pedal edema | Respiratory distress | Single ventricle | Tachypnea | Transposition of the great arteries | Tricuspid regurgitation | Truncus arteriosus | Ventricular septal defect" ], "symptoms_ja_list": [ "うっ血性心不全 | チアノーゼ | 三尖弁逆流 | 両大血管右室起始症 | 二弁性大動脈弁 | 動脈管開存症 | 単心室 | 右脚ブロック | 呼吸窮迫 | 多呼吸 | 大動脈弁閉鎖 | 大動脈肺動脈窓 | 大動脈逆流 | 大血管転位 | 左室肥大 | 心室中隔欠損 | 心形態の異常 | 浮腫 (下肢) | 総動脈幹 | 運動性呼吸困難 | 間歇的跛行 | 頭痛 | 食餌摂取障害 in infancy | 高血圧" ] }, { "id": "NANDO:2100305", "label_en": "Syringomyelia", "label_ja": "脊髄空洞症", "yomigana": "せきずいくうどうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100305", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200874", "label_en": "Thanatophoric dysplasia", "label_ja": "タナトフォリック骨異形成症", "yomigana": "たなとふぉりっくこついけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200874", "notificationNumber": "275", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal ilium morphology | Abnormal metaphysis morphology | Abnormal sacroiliac joint morphology | Abnormality of the kidney | Acanthosis nigricans | Atrial septal defect | Brachydactyly | Cloverleaf skull | Depressed nasal bridge | Disproportionate short-limb short stature | Downslanted palpebral fissures | Flat face | Frontal bossing | Gray matter heterotopia | Hearing impairment | Hip dysplasia | Hydrocephalus | Hypotonia | Increased nuchal translucency | Intrauterine growth retardation | Joint hypermobility | Joint stiffness | Kyphosis | Low-set ears | Macrocephaly | Micromelia | Midface retrusion | Narrow chest | Patent ductus arteriosus | Platyspondyly | Polyhydramnios | Profound intellectual disability | Proptosis | Pulmonary hypoplasia | Redundant skin | Respiratory insufficiency | Seizure | Short thorax | Skeletal dysplasia | Ventriculomegaly" ], "symptoms_ja_list": [ "クローバー型頭蓋骨 | 不均衡型短肢低身長 | 仙腸関節の異常 | 前頭突出", "額突出 | 動脈管開存症 | 呼吸不全 | 大頭 | 子宮内成長遅滞 | 小肢症 | 平坦な顔 | 後弯 | 循環器系の形態異常 | 心房中隔欠損 | 扁平脊椎 | 水頭症 | 狭い胸郭 | 発作 | 眼球突出 | 眼瞼裂斜下 | 知的障害", "最重度 | 短い胸郭 | 短指症候群 | 筋緊張低下 | 組織異所発生 | 羊水過多 | 耳介低位 | 股関節異形成 | 肺低形成 | 脳室拡大 | 腎異常 | 腸骨の異常 | 落ちくぼんだ鼻梁 | 過剰な皮膚 | 関節拘縮 | 関節過動 | 難聴 | 項部透過性増加 | 顔面中部後退 | 骨幹端の異常 | 骨格異形成 | 黒色表皮腫" ] }, { "id": "NANDO:2201520", "label_en": "Congenital esophageal atresia Gross type C", "label_ja": "先天性食道閉鎖症 Gross C型", "yomigana": "せんてんせいしょくどうへいさしょう ぐろすしーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201520", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100308", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201052", "label_en": "End-plate acetylcholine receptor deficiency", "label_ja": "終板アセチルコリン受容体欠損症", "yomigana": "しゅうばんあせちるこりんじゅようたいけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201052", "notificationNumber": "12", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200982", "label_en": "Young-Simpson syndrome", "label_ja": "ヤング・シンプソン症候群", "yomigana": "やんぐ・しんぷそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200982", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abnormal antihelix morphology | Abnormal cheek morphology | Abnormal nasolacrimal system morphology | Atrial septal defect | Atrioventricular canal defect | Autosomal dominant inheritance | Bifid uvula | Bilateral single transverse palmar creases | Blepharophimosis | Bulbous nose | Camptodactyly of finger | Cleft palate | Clinodactyly of the 5th finger | Cryptorchidism | Depressed nasal bridge | Dilated cardiomyopathy | Ectopic thyroid | Epicanthus inversus | Failure to thrive | Feeding difficulties | Global developmental delay | Growth delay | Hearing impairment | Hypospadias | Hypothyroidism | Hypotonia | Infantile onset | Intellectual disability | Joint hypermobility | Long hallux | Long nose | Low-set ears | Microcephaly | Microdontia | Micrognathia | Motor delay | Neoplasm of the tongue | Patellar dislocation | Patent ductus arteriosus | Polyhydramnios | Posteriorly rotated ears | Prominent nose | Prominent occiput | Recurrent respiratory infections | Retrognathia | Seizure | Severe intellectual disability | Severe short stature | Short palpebral fissure | Sloping forehead | Specific learning disability | Submucous cleft hard palate | Thin upper lip vermilion | Thyroid agenesis | Thyroid dysgenesis | Thyroid hypoplasia | Ventricular septal defect" ], "symptoms_ja_list": [ "下顎後退 | 両側性単一手掌横線 | 二分した口蓋垂 | 停留精巣 | 全般性発達遅滞 | 動脈管開存症 | 反復性呼吸器感染症 | 口蓋裂 | 対耳輪の異常 | 小歯 | 小頭 | 小顎 | 尿道下裂 | 屈指 | 常染色体顕性遺伝 | 心室中隔欠損 | 心房中隔欠損 | 成長遅滞 | 成長障害 (成長不全) | 房室管欠損 | 拡張型心筋症 | 特異的学習障害 | 球状の鼻 | 甲状腺低形成 | 甲状腺機能低下症 | 甲状腺無発生 | 甲状腺異発生 | 異所性甲状腺 | 発作 | 目立つ後頭 | 目立つ鼻 | 眼瞼裂狭小 | 知的障害 | 知的障害", "重度 | 短い眼瞼裂 | 第5指弯指 | 筋緊張低下 | 粘膜下硬口蓋裂 | 羊水過多 | 耳介低位 | 耳介後方回転 | 膝蓋骨脱臼 | 舌新生物 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 逆内眼角贅皮 | 運動発達遅滞 | 重度の低身長 | 長い母趾 | 長い鼻 | 関節過動 | 難聴 | 頬部の異常 | 額傾斜 | 食餌摂取障害 | 鼻涙管の異常" ] }, { "id": "NANDO:2200931", "label_en": "Alagille syndrome", "label_ja": "アラジール症候群", "yomigana": "あらじーるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200931", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100266", "symptoms_en_list": [ "Abnormal pupil morphology | Abnormal rib morphology | Abnormal vertebral body morphology | Abnormality of the ureter | Atrial septal defect | Brachycephaly | Butterfly vertebral arch | Cholestasis | Clinodactyly of the 5th finger | Coarse facial features | Corneal dystrophy | Cryptorchidism | Deeply set eye | Delayed puberty | Delayed skeletal maturation | Downslanted palpebral fissures | Failure to thrive | Flat face | Frontal bossing | Hepatomegaly | Hypertelorism | Hypertension | Hypoplasia of the ulna | Intrauterine growth retardation | Keratoconus | Long nose | Micrognathia | Mild intellectual disability | Nephrotic syndrome | Peripheral pulmonary artery stenosis | Pointed chin | Protruding ear | Reduced number of intrahepatic bile ducts | Renal hypoplasia/aplasia | Round face | Short distal phalanx of finger | Short philtrum | Specific learning disability | Spina bifida occulta | Strabismus | Telangiectasia of the skin | Ventricular septal defect | Vertebral segmentation defect" ], "symptoms_ja_list": [ "ネフローゼ症候群 | 両眼隔離 | 丸い顔 | 停留精巣 | 円錐角膜 | 前頭突出", "額突出 | 子宮内成長遅滞 | 小顎 | 尖った下顎 | 尺骨低形成 | 尿管異常 | 平坦な顔 | 心室中隔欠損 | 心房中隔欠損 | 思春期遅発 | 成長障害 (成長不全) | 斜視 | 末梢肺動脈狭窄 | 椎体骨形態異常 | 潜在性二分脊椎 | 特異的学習障害 | 皮膚毛細血管拡張 | 眼瞼裂斜下 | 瞳孔の異常 | 知的障害", "軽度 | 短い人中 | 短い指末節骨 | 短頭 | 第5指弯指 | 粗な顔貌 | 耳介聳立 | 肋骨の異常 | 肝内胆管数減少 | 肝腫 | 胆汁うっ滞 | 脊椎分節異常 | 腎低形成/無形成 | 落ちくぼんだ眼 | 蝶形椎弓 | 角膜ジストロフィー | 長い鼻 | 骨格骨化遅延 | 高血圧" ] }, { "id": "NANDO:2201260", "label_en": "Ehlers-Danlos syndrome, arthrochalasis type", "label_ja": "多発関節弛緩型エーラス・ダンロス症候群", "yomigana": "たはつかんせつしかんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201260", "notificationNumber": "31", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100172", "symptoms_en_list": [ "Abnormality of subcutaneous fat tissue | Aphasia | Avascular necrosis of the capital femoral epiphysis | Coxa valga | Coxa vara | Depressed nasal bridge | Echolalia | Epicanthus | Femoral hernia | Hip dislocation | Hip dysplasia | Hyperextensible skin | Hypertelorism | Hypotonia | Inguinal hernia | Joint dislocation | Joint hypermobility | Joint stiffness | Micrognathia | Muscle flaccidity | Mutism | Retrognathia | Scarring | Scoliosis | Severe short stature | Thin skin" ], "symptoms_ja_list": [ "下顎後退 | 両眼隔離 | 側弯 | 内反股 | 内眼角贅皮 | 反響言語 | 外反股 | 大腿ヘルニア | 大腿骨骨頭骨端の無血管性壊死 | 失語症 | 小顎 | 無言症 | 瘢痕 | 皮下脂肪組織の異常 | 筋弛緩 | 筋緊張低下 | 股関節異形成 | 股関節脱臼 | 落ちくぼんだ鼻梁 | 薄い皮膚 | 過伸展皮膚 | 重度の低身長 | 関節拘縮 | 関節脱臼 | 関節過動 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200565", "label_en": "Focal cortical dysplasia type 1a", "label_ja": "限局性皮質異形成タイプ1a", "yomigana": "げんきょくせいひしついけいせいたいぷ1えー", "url": "http://nanbyodata.jp/ontology/NANDO_1200565", "notificationNumber": "137", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100295", "label_en": "Vascular malformation", "label_ja": "脈管奇形", "yomigana": "みゃっかんけい/みゃくかんけいきけい", "url": "http://nanbyodata.jp/ontology/NANDO_2100295", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100294", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200645", "label_en": "Ehlers-Danlos Syndrome", "label_ja": "エーラス・ダンロス症候群", "yomigana": "えーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200645", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200940", "label_en": "Leber hereditary optic neuropathy", "label_ja": "レーベル遺伝性視神経症", "yomigana": "れーべるいでんせいししんけいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200940", "notificationNumber": "302", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal electroretinogram | Abnormality of visual evoked potentials | Arrhythmia | Ataxia | Blurred vision | Central retinal vessel vascular tortuosity | Central scotoma | Centrocecal scotoma | Color vision defect | Dystonia | Leber optic atrophy | Mitochondrial inheritance | Mitochondrial respiratory chain defects | Myopathy | Optic atrophy | Optic neuropathy | Peripheral neuropathy | Polyneuropathy | Postural tremor | Progressive visual loss | Retinal telangiectasia | Retinal vascular tortuosity | Slow decrease in visual acuity | Typified by incomplete penetrance | Ventricular preexcitation | Visual loss" ], "symptoms_ja_list": [ "Leber 視神経萎縮 | ジストニア | ポリニューロパチー | ミオパチー | ミトコンドリア呼吸鎖障害 | ミトコンドリア遺伝 | 不整脈 | 中心暗点 | 中心網膜血管蛇行 | 姿勢性振戦 | 心室早期興奮 | 末梢神経ニューロパチー | 盲点暗点 | 網膜毛細血管拡張 | 網膜血管蛇行 | 網膜電図異常 | 色覚異常 | 視力の緩徐な減少 | 視力喪失 | 視力障害(霧視、かすみ目) | 視神経ニューロパチー | 視神経萎縮 | 視覚誘発電位の異常 | 進行性視力喪失 | 運動失調" ] }, { "id": "NANDO:2201447", "label_en": "Acquired partial lipodystrophy", "label_ja": "後天性部分性脂肪萎縮症", "yomigana": "こうてんせいぶぶんせいしぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201447", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100147", "symptoms_en_list": [ "Arthralgia | Autoimmunity | Decreased circulating complement C3 concentration | Generalized hirsutism | Glomerulopathy | Hearing impairment | Hepatic steatosis | Immunodeficiency | Increased total lymphocyte count | Insulin resistance | Intellectual disability | Lipoatrophy | Microscopic hematuria | Myopathy | Progeroid facial appearance | Proteinuria | Seizure" ], "symptoms_ja_list": [ "インスリン抵抗性 | プロゲリア様顔貌 | ミオパチー | リンパ球増多症 | 免疫不全 | 全身性多毛 | 発作 | 知的障害 | 糸球体症 | 脂肪肝 | 脂肪萎縮 | 自己免疫 | 蛋白尿 | 血清補体 C3減少 | 関節痛 | 難聴 | 顕微血尿" ] }, { "id": "NANDO:2201317", "label_en": "Anti-NMDA receptor encephalitis", "label_ja": "抗NMDA受容体脳炎", "yomigana": "こうえぬえむでぃーえーじゅようたいのうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2201317", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100248", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal sudomotor regulation | Agitation | Anxiety | Atypical behavior | CSF pleocytosis | Chorea | Choreoathetosis | Confusion | Delusion | Depression | Diarrhea | Dyskinesia | Dystonia | EEG with temporal sharp slow waves | Excessive salivation | Fever | Focal-onset seizure | Generalized-onset seizure | Hallucinations | Headache | Hodgkin lymphoma | Insomnia | Involuntary movements | Language impairment | Loss of speech | Mania | Memory impairment | Motor stereotypy | Mutism | Myoclonus | Neoplasm of the breast | Neoplasm of the lung | Neoplasm of the thymus | Neuroblastoma | No social interaction | Oculogyric crisis | Opisthotonus | Orofacial dyskinesia | Orthostatic hypotension | Orthostatic tachycardia | Ovarian teratoma | Psychosis | Rigidity | Seizure | Short attention span | Status epilepticus | Testicular teratoma | Vomiting" ], "symptoms_ja_list": [ "Hodgkin リンパ腫 | うつ | てんかん重積 | ジスキネジア | ジストニア | マニア | ミオクローヌス | 下痢 | 不安 | 不眠 | 不穏 | 不随意運動 | 乳房新生物 | 側頭棘除波を伴う脳波 | 全身性発作 | 卵巣奇形腫 | 口顔面ジスキネジア | 嘔吐 | 妄想 | 常同行動 | 幻覚 | 後弓反張 | 注視クリーゼ | 無言症 | 焦点性発作 | 異常な発汗刺激調節 | 異常な自律神経生理 | 発作 | 発熱 | 発語喪失 | 短い注意期間 | 硬直 | 社会的相互作用なし | 神経芽腫 | 精巣奇形腫 | 精神病 | 肺新生物 | 胸腺新生物 | 舞踏病 | 舞踏病アテトーゼ | 行動異常 | 言語障害 | 記憶障害 | 誇張された唾液分泌 | 起立性低血圧 | 起立性頻拍 | 錯乱 | 頭痛 | 髄液細胞増症" ] }, { "id": "NANDO:2201393", "label_en": "CASK abnormality", "label_ja": "CASK異常症", "yomigana": "きゃすくいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201393", "notificationNumber": "85", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [ "Abnormally large globe | Absent speech | Autistic behavior | Axial hypotonia | Broad forehead | Broad nasal tip | Cerebellar hypoplasia | Cerebral cortical atrophy | Decreased body weight | Dilated fourth ventricle | Downslanted palpebral fissures | Dyskinesia | Dystonia | Epicanthus | Epileptic encephalopathy | Epileptic spasm | Failure to thrive | Feeding difficulties | Feeding difficulties in infancy | Floppy infant | Gait disturbance | Global developmental delay | Hearing impairment | High palate | Highly arched eyebrow | Hyperreflexia | Hypertelorism | Hypertonia | Hypohidrosis | Hypoplasia of the brainstem | Hypoplasia of the pons | Hypotonia | Intermittent hyperventilation | Long philtrum | Macrotia | Microcephaly | Micrognathia | Moderate intellectual disability | Muscle weakness | Myopia | Nystagmus | Optic atrophy | Optic disc pallor | Optic nerve hypoplasia | Oval face | Pachygyria | Plagiocephaly | Postnatal growth retardation | Progressive microcephaly | Prominent nasal bridge | Proportionate short stature | Retinal coloboma | Retrognathia | Rigidity | Scoliosis | Seizure | Sensorineural hearing impairment | Severe global developmental delay | Short nose | Short stature | Simplified gyral pattern | Sleep disturbance | Smooth philtrum | Spasticity | Stereotypical hand wringing | Strabismus | Unsteady gait | Visual impairment | Wide nasal bridge | X-linked dominant inheritance" ], "symptoms_ja_list": [ "X連鎖顕性遺伝 | てんかん性スパスム | てんかん性脳症 | ジスキネジア | ジストニア | 下顎後退 | 不均衡型低身長 | 不安定歩行 | 両眼隔離 | 乳児筋性筋緊張低下 | 低身長 | 体幹の筋緊張低下 | 体重減少 | 側弯 | 全般性発達遅滞 | 内眼角贅皮 | 卵形の顔 | 反射亢進 | 大きな眼 | 大耳 | 大脳皮質萎縮 | 小脳低形成 | 小頭 | 小顎 | 常同的手絞り動作 | 幅広い額 | 幅広い鼻尖 | 幅広い鼻梁 | 平坦な人中 | 感音難聴 | 成長障害 (成長不全) | 斜視 | 斜頭 | 橋低形成 | 歩行障害 | 減汗症 | 生後の成長遅滞 | 痙性 | 発作 | 発語欠損 | 皮質脳回単純化 | 目立つ鼻梁 | 眼振 | 眼瞼裂斜下 | 睡眠障害 | 知的障害", "中道動脈瘤 | 短い鼻 | 硬直 | 第4脳室拡大 | 筋緊張亢進 | 筋緊張低下 | 筋虚弱 | 網膜コロボーマ | 脳回肥厚 | 脳幹低形成 | 自閉性行動 | 視力障害 | 視神経低形成 | 視神経杯蒼白 | 視神経萎縮 | 近視 | 進行性小頭 | 重度の全般性発達遅滞 | 長い人中 | 間歇的過換気 | 難聴 | 食餌摂取障害 | 食餌摂取障害 in infancy | 高位の弓形眉毛 | 高口蓋" ] }, { "id": "NANDO:1200950", "label_en": "Megaloencephalic leukoencephalopathy with subcortical cysts", "label_ja": "皮質下嚢胞をもつ大頭型白質脳症", "yomigana": "ひしつかのうほうをもつだいとうがたはくしつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200950", "notificationNumber": "308", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormality of extrapyramidal motor function | Ataxia | Athetosis | Atypical behavior | Autism | Cerebral white matter atrophy | Clumsiness | Diffuse swelling of cerebral white matter | Dystonia | Intellectual disability | Mental deterioration | Motor deterioration | Postnatal macrocephaly | Seizure | Spasticity | Status epilepticus | Unsteady gait" ], "symptoms_ja_list": [ "てんかん重積 | びまん性大脳白質腫脹 | アテトーゼ | ジストニア | 不器用 | 不安定歩行 | 大脳白質萎縮 | 生後の大頭 | 痙性 | 発作 | 知的障害 | 知能悪化 | 自閉症 | 行動異常 | 運動失調 | 運動発達悪化 | 錐体外路運動機能の異常" ] }, { "id": "NANDO:2201103", "label_en": "Acute-onset methylmalonic acidemia", "label_ja": "急性発症型メチルマロン酸血症", "yomigana": "きゅうせいはっしょうがためちるまろんさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201103", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200797", "label_en": "Factor B deficiency", "label_ja": "B因子欠損症", "yomigana": "びーいんしけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200797", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Childhood onset | Decreased circulating complement factor B concentration | Meningitis | Peritonitis | Pneumonia | Recurrent Neisseria meningitidis infection | Recurrent bacterial infections" ], "symptoms_ja_list": [ "反復性細菌感染症 | 反復性髄膜炎菌疾患 | 常染色体潜性遺伝 | 肺炎 | 腹膜炎 | 血清補体 factor B減少 | 髄膜炎" ] }, { "id": "NANDO:2100208", "label_en": "Defect in innate immunity", "label_ja": "自然免疫異常", "yomigana": "しぜんめんえきいじょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100208", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200188", "label_en": "Lowe syndrome", "label_ja": "ロウ症候群", "yomigana": "ろうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200188", "notificationNumber": "51", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100028", "symptoms_en_list": [ "Abnormal circulating calcium-phosphate regulating hormone concentration | Abnormal dental enamel morphology | Abnormal epiphysis morphology | Abnormal metaphysis morphology | Abnormal pupil morphology | Abnormal renal tubule morphology | Abnormal rib morphology | Abnormality of the dentition | Abnormality of the voice | Aggressive behavior | Amblyopia | Aminoaciduria | Anemia | Anxiety | Aphasia | Areflexia | Arthritis | Atelectasis | Attention deficit hyperactivity disorder | Atypical scarring of skin | Azoospermia | Benign neoplasm of the central nervous system | Bicarbonaturia | Buphthalmos | Camptodactyly of finger | Carious teeth | Cataract | Cheilitis | Chorioretinal dysplasia | Chronic otitis media | Clonus | Compulsive behaviors | Congenital onset | Constipation | Corneal opacity | Corneal scarring | Cryptorchidism | Death in infancy | Decreased circulating vitamin D concentration | Deep philtrum | Deeply set eye | Dehydration | Delayed eruption of teeth | Delayed puberty | Dense posterior cortical cataract | Dental crowding | Depression | Developmental cataract | Diabetes insipidus | EEG abnormality | Elevated amniotic fluid alpha-fetoprotein concentration | Elevated circulating creatine kinase activity | Elevated maternal circulating alpha-fetoprotein concentration | Elevated serum acid phosphatase | Enamel hypoplasia | Everted lower lip vermilion | Failure to thrive | Feeding difficulties in infancy | Fine hair | Flat occiput | Frontal bossing | Full cheeks | Gastroesophageal reflux | Generalized hypopigmentation | Genu valgum | Gingivitis | Glaucoma | Global developmental delay | Glomerulopathy | Hematuria | Hip dislocation | Hypercalciuria | Hypercholesterolemia | Hyperparathyroidism | Hyperphosphaturia | Hypoammonemia | Hypokalemia | Hyponatremia | Hypophosphatemia | Hypotonia | Increased circulating aldosterone concentration | Increased circulating lactate concentration | Inguinal hernia | Intellectual disability | Joint contracture of the hand | Joint hypermobility | Joint stiffness | Joint swelling | Keloids | Kidney stone | Kyphosis | Lacrimation abnormality | Lentiglobus | Long face | Long philtrum | Low-molecular-weight proteinuria | Malabsorption | Mandibular prognathia | Micrognathia | Microphthalmia | Motor stereotypy | Multiple renal cysts | Narrow palate | Neonatal hypotonia | Neoplasm of the skin | Nephrocalcinosis | Nystagmus | Odontogenic neoplasm | Oligosacchariduria | Open bite | Open mouth | Osteomalacia | Patellar dislocation | Pathologic fracture | Periodontitis | Periventricular cysts | Platyspondyly | Posteriorly rotated ears | Postnatal growth retardation | Proteinuria | Protruding ear | Proximal renal tubular acidosis | Recurrent fractures | Recurrent respiratory infections | Reduced visual acuity | Renal Fanconi syndrome | Renal insufficiency | Respiratory insufficiency | Rickets | Scoliosis | Seizure | Self-injurious behavior | Short stature | Skin ulcer | Sparse scalp hair | Stage 5 chronic kidney disease | Strabismus | Subcutaneous nodule | Taurodontia | Thin upper lip vermilion | Thrombocytopenia | Tooth agenesis | Umbilical hernia | Upslanted palpebral fissure | Urogenital fistula | Ventriculomegaly | Visual impairment | Wrist swelling | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | うつ | くる病 | アミノ酸尿 | オリゴ糖尿 | カルシウム-リン代謝の異常 | クローヌス | ケロイド | ステージ5慢性腎疾患 | ビタミンD欠乏症 | 下口唇唇紅部外反 | 下顎突出 | 不安 | 中心視力減少 | 中枢神経良性新生物 | 低アンモニア血症 | 低カリウム血症 | 低ナトリウム血症 | 低リン血症 | 低分子量蛋白尿 | 低身長 | 便秘 | 停留精巣 | 側弯 | 先天性白内障 | 全般性発達遅滞 | 全身性低色素 | 前頭突出", "額突出 | 副甲状腺機能亢進症 | 反復性呼吸器感染症 | 反復性骨折 | 口唇炎 | 吸収障害 | 呼吸不全 | 声の異常 | 外反膝 | 多発性腎嚢胞 | 大きな頬 | 失語症 | 小眼球 | 小顎 | 尿崩症 | 屈指 | 常同行動 | 平坦な後頭 | 弱視 | 強迫性行動 | 後弯 | 思春期遅発 | 慢性中耳炎 | 成長障害 (成長不全) | 扁平脊椎 | 手関節拘縮 | 手関節腫脹 | 攻撃的行動 | 斜視 | 新生児筋緊張低下 | 歯の異常 | 歯エナメル質低形成 | 歯エナメル質異常 | 歯周炎 | 歯数の減少 number of teeth | 歯混雑 | 歯源性新生物 | 歯肉炎 | 歯萠出遅延 | 母体血清αフェトプロテイン高値 | 泌尿生殖器瘻 | 注意力欠陥多動性疾患 | 流涙異常 | 深い人中 | 濃い後皮質白内障 | 無反射 | 無気肺 | 無精子症 | 牛歯 | 牛眼 | 狭い口蓋 | 球形円錐水晶体 | 生後の成長遅滞 | 疎な頭髪 | 病的骨折 | 発作 | 白内障 | 皮下結節 | 皮膚新生物 | 皮膚潰瘍 | 眼振 | 眼瞼裂斜上 | 瞳孔の異常 | 知的障害 | 筋緊張低下 | 糸球体症 | 細い毛髪 | 緑内障 | 羊水中α-フェトプロテイン上昇 | 耳介後方回転 | 耳介聳立 | 肋骨の異常 | 股関節脱臼 | 胃食道逆流 | 脈絡膜網膜異形成 | 脱水 | 脳室周囲嚢胞 | 脳室拡大 | 脳波異常 | 腎不全 | 腎尿細管異常 | 腎性 Fanconi 症候群 | 腎石灰化症 | 腎結石 | 膝蓋骨脱臼 | 臍ヘルニア | 自傷行動 | 落ちくぼんだ眼 | 薄い上口唇唇紅部 | 蛋白尿 | 血小板減少 | 血尿 | 血清 creatine phosphokinase上昇 | 血清乳酸増加 | 血清酸性フォスファミリーターゼ上昇 | 視力障害 | 角膜混濁 | 角膜瘢痕 | 貧血 | 近位腎尿細管アシドーシス | 重炭酸尿 | 長い人中 | 長い顔 | 開口 | 開放咬合 | 関節拘縮 | 関節炎 | 関節腫脹 | 関節過動 | 非典型的皮膚瘢痕 | 食餌摂取障害 in infancy | 骨幹端の異常 | 骨端の異常 | 骨軟化症 | 高アルドステロン症 | 高カルシウム尿 | 高コレステロール血症 | 高リン尿 | 鼠径ヘルニア | 齲歯" ] }, { "id": "NANDO:2200160", "label_en": "Other renal malformations", "label_ja": "38から44までに掲げるもののほか、腎奇形", "yomigana": "38から44までにかかげるもののほか、じんきけい", "url": "http://nanbyodata.jp/ontology/NANDO_2200160", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200259", "label_en": "Congenitally corrected transposition of the great arteries", "label_ja": "先天性修正大血管転位症", "yomigana": "せんてんせいしゅうせいだいけっかんてんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200259", "notificationNumber": "52", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100079", "symptoms_en_list": [ "Abnormal atrioventricular conduction | Abnormal atrioventricular valve morphology | Abnormal heart morphology | Abnormal left ventricular outflow tract morphology | Abnormal tricuspid valve morphology | Ambiguous atrioventricular connection | Aortic regurgitation | Arrhythmia | Atrial flutter | Atrial septal defect | Atrial situs ambiguous | Atrial situs inversus | Bilateral superior vena cava with bridging vein | Bradycardia | Congestive heart failure | Cyanosis | Dextrocardia | Discordant atrioventricular connection | Double aortic arch | Double outlet left ventricle | Easy fatigability | Ebstein anomaly of the tricuspid valve | Failure to thrive | First degree atrioventricular block | Food intolerance | Gerbode ventricular septal defect | Global systolic dysfunction | Heart block | Mesocardia | Mobitz I atrioventricular block | Patent ductus arteriosus | Perimembranous ventricular septal defect | Premature atrial contractions | Pulmonary artery atresia | Pulmonic stenosis | Right ventricular cardiomyopathy | Sick sinus syndrome | Single ventricle | Situs inversus totalis | Supraventricular tachycardia | Supraventricular tachycardia with an accessory connection mediated pathway | Third degree atrioventricular block | Tricuspid regurgitation | Ventricular septal defect | Ventricular tachycardia | Wolff-Parkinson-White syndrome" ], "symptoms_ja_list": [ "1度房室ブロック | 3度房室ブロック | Gerbode 心室中隔欠損 | Mobitz I 型房室ブロック | Wolff-Parkinson-White 症候群 | うっ血性心不全 | チアノーゼ | 三尖弁のEbstein 奇形 | 三尖弁の異常 | 三尖弁逆流 | 上室性頻拍 | 不整脈 | 不明瞭な房室結合 | 両大血管左室起始症 | 全内臓逆位 | 全身性収縮期機能障害 | 分枝静脈を伴う両側性上大静脈 | 副伝導路系を伴う上室性頻拍 | 動脈不定位 | 動脈管開存症 | 動脈逆位 | 単心室 | 右室心筋症 | 右胸心 | 大動脈逆流 | 左室拍出路の異常 | 徐脈 | 心ブロック | 心室中隔欠損 | 心室性 頻拍 | 心形態の異常 | 心房中隔欠損 | 心房粗動 | 成長障害 (成長不全) | 房室弁の異常 | 房室結合不一致 | 易疲労性 | 洞結節不全症候群 | 異常な房室電動 | 異所性上室律動 | 肺動脈狭窄 | 肺動脈閉鎖 | 胸郭中央位心臓 | 膜様部周囲心室中隔欠損 | 重複大動脈弓 | 食物不耐性" ] }, { "id": "NANDO:2100108", "label_en": "Post-Fontan syndrome", "label_ja": "フォンタン術後症候群", "yomigana": "ふぉんたんじゅつごしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100108", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100126", "label_en": "Pseudohypoparathyroidism", "label_ja": "偽性副甲状腺機能低下症", "yomigana": "ぎせいふくこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100126", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200375", "label_en": "P450 oxidoreductase deficiency", "label_ja": "P450酸化還元酵素欠損症", "yomigana": "ぴー450さんかかんげんこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200375", "notificationNumber": "60", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100134", "symptoms_en_list": [ "Abnormal antihelix morphology | Abnormal earlobe morphology | Abnormal external genitalia morphology | Abnormal facial shape | Abnormal female external genitalia morphology | Abnormal foot morphology | Abnormal male external genitalia morphology | Abnormal metacarpal epiphysis morphology | Abnormal metacarpophalangeal joint morphology | Abnormal pinna morphology | Abnormal rib morphology | Abnormal umbilical cord blood vessel morphology | Abnormal vertebral morphology | Abnormality of skeletal maturation | Abnormality of the hand | Abnormality of the skeletal system | Abnormality of the urinary system | Abnormality of the wrist | Adrenal hyperplasia | Ambiguous genitalia | Anteriorly placed anus | Arachnodactyly | Autosomal recessive inheritance | Bowing of the long bones | Brachycephaly | Brachydactyly | Bulbous nose | Camptodactyly | Chiari malformation | Choanal atresia | Choanal stenosis | Conductive hearing impairment | Congenital adrenal hyperplasia | Constipation | Craniosynostosis | Cryptorchidism | Cubitus valgus | Decreased circulating cortisol level | Decreased fertility | Decreased serum estradiol | Delayed fine motor development | Delayed puberty | Delayed speech and language development | Depressed nasal bridge | Dilatation of the renal pelvis | Disproportionate tall stature | Elbow ankylosis | Elbow flexion contracture | Elevated circulating follicle stimulating hormone level | Elevated circulating luteinizing hormone level | Enlarged polycystic ovaries | Femoral bowing | Flexion contracture | Frontal bossing | Gastroesophageal reflux | High", "narrow palate | Hirsutism | Humeroradial synostosis | Hydrocephalus | Hypertension | Hypoplastic scapulae | Hypospadias | Increased circulating ACTH level | Limitation of joint mobility | Limited elbow extension | Long palm | Low-set ears | Maternal virilization in pregnancy | Metacarpal synostosis | Metatarsal synostosis | Micropenis | Midface retrusion | Midfrontal capillary hemangioma | Narrow chest | Narrow mouth | Narrow pelvis bone | Oligozoospermia | Polycystic ovaries | Primary amenorrhea | Proximal tibial and fibular fusion | Radioulnar dislocation | Radioulnar synostosis | Rocker bottom foot | Scoliosis | Short metacarpal | Short nose | Shortening of all distal phalanges of the fingers | Stenosis of the external auditory canal | Stillbirth | Talipes | Talipes equinovarus | Tarsal synostosis | Turricephaly | Ulnar deviation of the wrist | Unilateral renal agenesis | Vesicoureteral reflux | Wide anterior fontanel" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | くも指 | 上腕骨橈骨癒合 | 不均衡型高身長 | 中手指節関節 (MP関節)の異常 | 中手骨癒合 | 中手骨骨端の異常 | 中足骨癒合症 | 乏精子症 | 伝音難聴 | 便秘 | 停留精巣 | 側弯 | 先天性副腎過形成 | 内反尖足 | 前方位肛門 | 前頭突出", "額突出 | 副腎過形成 | 卵胞刺激ホルモン上昇 | 原発性無月経 | 塔状頭 | 外反肘 | 外性器異常 | 外耳道狭窄 | 多嚢胞性卵巣 | 多嚢胞性卵巣拡大 | 多毛 | 大腿骨湾曲 | 女性外性器異常 | 妊孕性減少 | 対耳輪の異常 | 小陰茎 | 尖足 | 尿路異常 | 尿道下裂 | 屈指 | 屈曲拘縮 | 常染色体潜性遺伝 | 幅広い大泉門 | 後鼻孔狭窄 | 後鼻孔閉鎖 | 循環性ACTH 値増加 | 循環性コルチゾール値減少 | 思春期遅発 | 性別不明の外性器 | 手の異常 | 手関節の尺側偏位 | 手関節の異常 | 指の全末節骨の短縮 | 揺り椅子状足底 | 橈尺骨癒合 | 橈尺骨脱臼 | 正中前頭毛細血管腫 | 母体妊娠中男性化 | 水頭症 | 片側性腎無発生 | 狭い口 | 狭い胸郭 | 狭い骨盤 | 球状の鼻 | 男性外性器異常 | 異常な臍帯血管 | 異常な顔の形 | 発語および言語発達遅延 | 短い中手骨 | 短い鼻 | 短指症候群 | 短頭 | 繊細運動発達遅延 | 耳介の異常 | 耳介低位 | 耳朶の異常 | 肋骨の異常 | 肘伸展制限 | 肘屈曲拘縮 | 肘強直 | 肩甲骨低形成 | 胃食道逆流 | 脊椎の異常 | 腎盂拡張 | 膀胱尿管逆流 | 落ちくぼんだ鼻梁 | 血清エストラジオール減少 | 足の異常 | 足根骨癒合症 | 近位脛骨および腓骨癒合 | 長い手掌 | 長管骨湾曲 | 関節運動制限 | 頭蓋合骨症 | 顔面中部後退 | 骨成熟の異常 | 骨格の異常 | 高狭口蓋 | 高血圧 | 黄体形成ホルモン上昇" ] }, { "id": "NANDO:2201412", "label_en": "PLPHP deficiency", "label_ja": "PLPHP欠損症", "yomigana": "ぴーえるぴーえいちぴーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201412", "notificationNumber": "99", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100302", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200436", "label_en": "Digenic retinitis pigmentosa", "label_ja": "網膜色素変性症（二遺伝子異常型）", "yomigana": "もうまくしきそへんせいしょう（にいでんしいじょうがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200436", "notificationNumber": "90", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200692", "label_en": "Myelofibrosis", "label_ja": "骨髄線維症", "yomigana": "こつずいせんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200692", "notificationNumber": "19", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100200", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200541", "label_en": "Fatty acid hydroxylase-associated neurodegeneration", "label_ja": "FAHN", "yomigana": "えふえーえいちえぬ", "url": "http://nanbyodata.jp/ontology/NANDO_1200541", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal periventricular white matter morphology | Anarthria | Ankle clonus | Anxiety | Ataxia | Atrophy of the spinal cord | Atrophy/Degeneration affecting the brainstem | Autosomal recessive inheritance | Babinski sign | Bilateral tonic-clonic seizure | Bipolar affective disorder | Bowel incontinence | Cerebellar atrophy | Cerebellar vermis atrophy | Cerebral cortical atrophy | Childhood onset | Cognitive impairment | Corpus callosum atrophy | Depression | Dysarthria | Dysdiadochokinesis | Dysmetria | Dysmyelinating leukodystrophy | Dysphagia | Dystonia | Enuresis nocturna | Expressive aphasia | External ophthalmoplegia | Eye of the tiger anomaly of globus pallidus | Falls | Focal-onset seizure | Foot dorsiflexor weakness | Frequent falls | Gait disturbance | Generalized dystonia | Horizontal nystagmus | Hyperreflexia | Hypoplasia of the corpus callosum | Intellectual disability | Juvenile onset | Kyphosis | Loss of ambulation | Lower limb hypertonia | Lower limb spasticity | Mask-like facies | Mental deterioration | Neck muscle weakness | Neurodegeneration | Nystagmus | Oculomotor apraxia | Ophthalmoplegia | Optic atrophy | Peripheral demyelination | Peripheral neuropathy | Pollakisuria | Pontocerebellar atrophy | Positional foot deformity | Progressive | Progressive extrapyramidal movement disorder | Progressive gait ataxia | Progressive spastic paraparesis | Progressive spastic paraplegia | Progressive spastic quadriplegia | Seizure | Slow decrease in visual acuity | Spastic paraplegia | Spastic tetraparesis | Strabismus | Supranuclear gaze palsy | Upper motor neuron dysfunction | Urinary incontinence | Urinary urgency | Visual field defect" ], "symptoms_ja_list": [ "Babinski サイン | うつ | ジストニア | 下肢痙性 | 下肢筋緊張亢進 | 不安 | 仮面様顔貌 | 全身性ジストニア | 全身性間代性強直性発作 | 双極性感情障害 | 反射亢進 | 嚥下障害 | 外眼筋麻痺 | 夜尿 | 大脳皮質萎縮 | 小脳萎縮 | 小脳虫部萎縮 | 尿意切迫 | 常染色体潜性遺伝 | 後弯 | 拮抗運動反復不全 | 斜視 | 末梢神経ニューロパチー | 末梢神経脱髄 | 核上性注視麻痺 | 構語障害 | 構音障害 | 橋小脳萎縮 | 歩行障害 | 水平性眼振 | 淡蒼球の虎の眼奇形 | 測定障害 | 焦点性発作 | 痙性四肢不全麻痺 | 痙性対麻痺 | 発作 | 皮質脊髄路機能障害 | 眼振 | 眼球運動失行症 | 眼筋麻痺 | 知的障害 | 知能悪化 | 神経変性 | 脊髄萎縮 | 脱髄性ロイコジストロフィー | 脳室周囲白質の異常 | 脳幹萎縮/変性 | 脳梁低形成 | 脳梁萎縮 | 視力の緩徐な減少 | 視神経萎縮 | 視野障害 | 認知障害 | 足クローヌス | 足位置異常 | 足背屈筋虚弱 | 転倒 | 進行性歩行不安定 | 進行性歩行失調 | 進行性痙性四肢麻痺 | 進行性痙性対不全麻痺 | 進行性痙性対麻痺 | 進行性錐体外路運動異常 | 運動失調 | 運動性失語 | 遺尿 | 遺糞症 | 頸部筋虚弱 | 頻回の転倒 | 頻用" ] }, { "id": "NANDO:2200394", "label_en": "Vipoma", "label_ja": "VIP産生腫瘍", "yomigana": "ぶいあいぴーさんせいしゅよう", "url": "http://nanbyodata.jp/ontology/NANDO_2200394", "notificationNumber": "42", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100141", "symptoms_en_list": [ "Abnormal abdomen morphology | Abnormality of the thyroid gland | Adrenocortical adenoma | Anorexia | Ascites | Benign gastrointestinal tract tumors | Chronic fatigue | Dehydration | Diabetes mellitus | Elevated circulating calcitonin concentration | Elevated circulating growth hormone concentration | Episodic abdominal pain | Erythema | Extrahepatic cholestasis | Follicular thyroid carcinoma | Ganglioneuroma | Generalized muscle weakness | Hematochezia | Hepatomegaly | Hypercalcemia | Hypokalemia | Increased circulating cortisol level | Increased circulating gonadotropin level | Increased circulating prolactin concentration | Intermittent jaundice | Intrahepatic cholestasis | Malabsorption | Muscle spasm | Nausea and vomiting | Neoplasm of the liver | Neoplasm of the pancreas | Normochromic anemia | Parathyroid adenoma | Pituitary adenoma | Poor appetite | Primary hyperparathyroidism | Respiratory insufficiency due to muscle weakness | Secretory diarrhea | Subcutaneous lipoma | Weight loss" ], "symptoms_ja_list": [ "カルシトニン上昇 | ゴナドトロピン過剰症 | プロラクチン過剰症 | 下垂体腺腫 | 低カリウム血症 | 体重喪失 | 全身性筋虚弱 | 分泌性下痢 | 副甲状腺腺腫 | 副腎皮質腺腫 | 原発性副甲状腺機能亢進症 | 吐気と 嘔吐 | 吸収障害 | 循環性コルチゾール 値増加 | 性色素性貧血 | 慢性疲労 | 成長ホルモン過剰症 | 濾胞性甲状腺癌 | 甲状腺異常 | 皮下脂肪腫 | 神経節神経腫 | 筋けいれん | 筋虚弱による呼吸不全 | 糖尿病 | 紅斑 | 肝内胆汁うっ滞 | 肝外胆汁うっ滞 | 肝新生物 | 肝腫 | 脱水 | 腹水 | 腹痛エピソード | 腹部の異常 | 膵新生物 | 良性胃腸管腫瘍 | 血便排泄 | 間歇的黄疸 | 食思不振 | 高カルシウム血症" ] }, { "id": "NANDO:1200114", "label_en": "Sly syndrome, mild form", "label_ja": "Sly病（軽症型）", "yomigana": "すらいびょう（けいしょうがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200114", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201470", "label_en": "Hereditary sideroblastic anemia", "label_ja": "遺伝性鉄芽球性貧血", "yomigana": "いでんせいてつがきゅうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2201470", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100179", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200911", "label_en": "Congenital diaphragmatic hernia", "label_ja": "先天性横隔膜ヘルニア", "yomigana": "せんてんせいおうかくまくへるにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200911", "notificationNumber": "294", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Aplasia/Hypoplasia of the diaphragm | Congenital diaphragmatic hernia | Hypoxemia | Intestinal malrotation | Prominent sternum | Pulmonary hypoplasia | Respiratory distress" ], "symptoms_ja_list": [ "低酸素血症への感受性の減少 | 先天性横隔膜ヘルニア | 呼吸窮迫 | 循環器系の形態異常 | 横隔膜無形成/低形成 | 目立つ胸骨 | 肺低形成 | 腸回転異常" ] }, { "id": "NANDO:2201381", "label_en": "Other junctional epidermolysis bullosa", "label_ja": "接合部型表皮水疱症（その他）", "yomigana": "せつごうぶがたひょうひすいほうしょう（そのた）", "url": "http://nanbyodata.jp/ontology/NANDO_2201381", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100284", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200378", "label_en": "Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome", "label_ja": "下垂体性PRL分泌亢進症", "yomigana": "かすいたいせいぴーあーるえるぶんぴつこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200378", "notificationNumber": "74", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abducens palsy | Abnormal hair quantity | Abnormal pituitary gland morphology | Abnormality of the menstrual cycle | Adrenocorticotropic hormone deficiency | Adrenocorticotropin deficient adrenal insufficiency | Amenorrhea | Anterior hypopituitarism | Blindness | Central adrenal insufficiency | Cranial nerve paralysis | Decreased circulating ACTH concentration | Decreased fertility in females | Decreased fertility in males | Delayed puberty | Diplopia | Easy fatigability | Elevated circulating growth hormone concentration | Erectile dysfunction | Fatigue | Female hypogonadism | Fourth cranial nerve palsy | Galactorrhea | Gynecomastia | Headache | Hemianopia | Hypogonadism | Hypogonadotropic hypogonadism | Hypotension | Impotence | Internal ophthalmoplegia | Irregular menstruation | Male hypogonadism | Nausea and vomiting | Oculomotor nerve palsy | Osteopenia | Osteoporosis | Pallor | Pituitary hypothyroidism | Progressive visual loss | Ptosis | Secondary growth hormone deficiency | Seizure | Sudden loss of visual acuity | Vertigo | Vomiting" ], "symptoms_ja_list": [ "インポテンス | 下垂体前葉機能低下症 | 下垂体甲状腺機能低下症 | 下垂体異常 | 中枢性副腎不全 | 乳汁漏出 | 二次性成長ホルモン欠乏症 | 低ゴナドトロピン性性腺機能低下症 | 低血圧 | 内眼筋麻痺 | 副腎皮質刺激ホルモン(ACTH) 欠乏性副腎不全 | 副腎皮質刺激ホルモン欠乏症 | 勃起異常 | 半盲 | 吐気と 嘔吐 | 嘔吐 | 女性の妊孕性減少 | 女性型乳房 | 女性性腺機能低下症 hypogonadism | 循環性ACTH 値減少 | 思春期遅発 | 性腺機能低下症 | 成長ホルモン過剰症 | 易疲労性 | 月経不純 | 月経周期異常 | 無月経 | 男性の妊孕性減少 | 男性性腺機能低下症 | 異常な毛髪量 | 疲労 | 発作 | 盲 | 眩暈 | 眼球運動神経麻痺 | 眼瞼下垂 | 突然の中心視力喪失 | 第4脳神経麻痺 | 第VI脳神経麻痺 | 脳神経麻痺 | 蒼白 | 複視 | 進行性視力喪失 | 頭痛 | 骨減少症 | 骨粗鬆症" ] }, { "id": "NANDO:2201229", "label_en": "Classic infantile Pompe disease", "label_ja": "乳児型ポンペ病", "yomigana": "にゅうじがたぽんぺびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201229", "notificationNumber": "126", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal CNS myelination | Abnormal circulating enzyme concentration or activity | Areflexia | Autosomal recessive inheritance | Cardiomegaly | Diaphragmatic paralysis | Difficulty climbing stairs | Dilatation of the cerebral artery | Dyspnea | Elevated circulating creatine kinase activity | Exercise intolerance | Facial hypotonia | Failure to thrive | Feeding difficulties in infancy | Fever | Firm muscles | Floppy infant | Gait disturbance | Generalized muscle weakness | Hearing impairment | Hepatomegaly | Hypertrophic cardiomyopathy | Hyporeflexia | Hypotonia | Increased muscle glycogen content | Intellectual disability | Left ventricular hypertrophy | Limb muscle weakness | Low-output congestive heart failure | Macroglossia | Motor delay | Muscle weakness | Nonimmune hydrops fetalis | Oligosacchariduria | Pleural effusion | Proximal muscle weakness | Recurrent respiratory infections | Respiratory distress | Respiratory failure | Respiratory failure requiring assisted ventilation | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Respiratory tract infection | Shortened PR interval | Sinus tachycardia | Splenomegaly | Subarachnoid hemorrhage | Tongue muscle weakness | Urinary incontinence | Wolff-Parkinson-White syndrome | Young adult onset" ], "symptoms_ja_list": [ "Wolff-Parkinson-White 症候群 | オリゴ糖尿 | クモ膜下出血 | 乳児筋性筋緊張低下 | 低拍出性うっ血性心不全 | 全身性筋虚弱 | 反射低下 | 反復性呼吸器感染症 | 呼吸不全 | 呼吸器感染 | 呼吸困難 | 呼吸窮迫 | 四肢筋虚弱 | 大脳動脈瘤 | 左室肥大 | 巨舌 | 常染色体潜性遺伝 | 心拡大 | 成長障害 (成長不全) | 横隔膜麻痺 | 歩行障害 | 洞性頻拍 | 無反射 | 異常な中枢神経髄鞘形成 | 発熱 | 知的障害 | 短い PR 間隔 | 硬い筋 | 筋グリコーゲン量増加 | 筋緊張低下 | 筋虚弱 | 筋虚弱による呼吸不全 | 肝腫 | 肥大型心筋症 | 胸膜滲出液 | 脾腫 | 舌運動障害 | 血清 creatine phosphokinase上昇 | 補助換気が必要な呼吸不全 | 近位筋虚弱 | 運動不耐症 | 運動発達遅滞 | 遺尿 | 階段の登り困難 | 難聴 | 非免疫性胎児水腫 | 顔面筋緊張低下 | 食餌摂取障害 in infancy | 高度/補酵素活性異常" ] }, { "id": "NANDO:1200893", "label_en": "Epstein syndrome", "label_ja": "エプスタイン症候群", "yomigana": "えぷすたいんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200893", "notificationNumber": "287", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200195", "label_en": "Tracheomalacia", "label_ja": "気管軟化症", "yomigana": "きかんなんかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200195", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [ "Abnormal heart morphology | Anomalous tracheal cartilage | Apnea | Atrial septal defect | Bronchiectasis | Bronchomalacia | Cardiomegaly | Cough | Cutis laxa | Cyanosis | Double aortic arch | Dyspnea | Emphysema | Esophageal atresia | Failure to thrive | Feeding difficulties | Gastroesophageal reflux | Hoarse voice | Laryngomalacia | Loss of voice | Neonatal respiratory distress | Neurodevelopmental delay | Partial anomalous pulmonary venous return | Patent ductus arteriosus | Pneumonia | Pneumothorax | Premature birth | Pulmonary arterial hypertension | Pulmonary hypoplasia | Recurrent upper respiratory tract infections | Respiratory insufficiency | Right aortic arch | Single ventricle | Stridor | Tetralogy of Fallot | Tracheobronchomalacia | Tracheoesophageal fistula | Tracheomalacia | Ventricular septal defect" ], "symptoms_ja_list": [ "Fallot 四徴症 | チアノーゼ | 動脈管開存症 | 単心室 | 反復性上気道感染症 | 右大動脈弓 | 呼吸不全 | 呼吸困難 | 喉頭軟化症 | 喘鳴 | 嗄声 | 声喪失 | 外層 | 弛緩性皮膚 | 心室中隔欠損 | 心形態の異常 | 心房中隔欠損 | 心拡大 | 成長障害 (成長不全) | 新生児呼吸窮迫 | 早産 | 気管支拡張 | 気管支軟化症 | 気管気管支軟化症 | 気管軟化症 | 気管軟骨異常 | 気管食道瘻 | 気胸 | 無呼吸 | 神経発生遅延 | 肺低形成 | 肺気腫 | 肺炎 | 肺高血圧 | 胃食道逆流 | 部分的肺静脈還流異常 | 重複大動脈弓 | 食道閉鎖 | 食餌摂取障害" ] }, { "id": "NANDO:2201081", "label_en": "Thiamine-responsive maple syrup urine disease", "label_ja": "チアミン反応型メープルシロップ尿症", "yomigana": "ちあみんはんのうがためーぷるしろっぷにょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201081", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201049", "label_en": "Senior-Loken syndrome", "label_ja": "セニオール・ローケン症候群", "yomigana": "せにおーる・ろーけんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201049", "notificationNumber": "177", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal retinal pigmentation | Abnormality of bone mineral density | Ataxia | Cataract | Chronic kidney disease | Cone-shaped epiphysis | Congenital hepatic fibrosis | Global developmental delay | Hypertension | Nephronophthisis | Premature ovarian insufficiency | Progressive visual loss | Retinal dystrophy | Short stature | Stage 5 chronic kidney disease | Visual impairment" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | ネフロン癆 | 低身長 | 先天性肝線維症 | 全般性発達遅滞 | 円錐骨端 | 慢性腎疾患 | 早発性卵巣不全 | 白内障 | 網膜ジストロフィー | 網膜色素異常 | 視力障害 | 進行性視力喪失 | 運動失調 | 骨ミネラル濃度の異常 | 高血圧" ] }, { "id": "NANDO:2201522", "label_en": "Congenital esophageal atresia Gross type E", "label_ja": "先天性食道閉鎖症 Gross E型", "yomigana": "せんてんせいしょくどうへいさしょう ぐろすいーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201522", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100308", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200161", "label_en": "Renal dysplasia", "label_ja": "腎異形成", "yomigana": "じんいけいせい", "url": "http://nanbyodata.jp/ontology/NANDO_2200161", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Abdominal pain | Abnormal nephron morphology | Abnormal renal calyx morphology | Abnormal renal tubule morphology | Chronic kidney disease | Congenital posterior urethral valve | Enlarged kidney | Functional abnormality of the bladder | Hydronephrosis | Hydroureter | Hypertension | Moderate proteinuria | Multicystic kidney dysplasia | Oligohydramnios | Pyelonephritis | Recurrent urinary tract infections | Renal hypoplasia/aplasia | Renal insufficiency | Thickened glomerular basement membrane | Ureteral agenesis | Ureteral atresia | Ureterocele | Urinary incontinence | Vesicoureteral reflux | Vesicovaginal fistula" ], "symptoms_ja_list": [ "ネフロン異常 | 中等度蛋白尿 | 先天性後部尿道弁 | 反復性尿路感染症 | 多嚢胞腎異形成 | 尿管無発生 | 尿管瘤 | 尿管閉鎖 | 慢性腎疾患 | 水尿管症 | 水腎症 | 糸球体基底膜肥厚 | 羊水過少 | 腎不全 | 腎低形成/無形成 | 腎尿細管異常 | 腎拡大 | 腎杯形態異常 | 腎盂腎炎 | 腹痛 | 膀胱尿管逆流 | 膀胱機能異常 | 膀胱膣瘻 | 遺尿 | 高血圧" ] }, { "id": "NANDO:2200167", "label_en": "Crossed fused kidney", "label_ja": "交差性融合腎", "yomigana": "こうさせいゆうごうじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200167", "notificationNumber": "13", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200698", "label_en": "Corrected transposition of great arteries", "label_ja": "修正大血管転位症", "yomigana": "しゅうせいだいけっかんてんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200698", "notificationNumber": "208", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal aortic arch morphology | Abnormal coronary artery morphology | Abnormal mitral valve morphology | Abnormal pulmonary valve morphology | Abnormal ventriculoarterial connection | Abnormality of blood circulation | Anomalous pulmonary venous return | Atrial septal defect | Biventricular hypertrophy | Cardiac shunt | Cardiomegaly | Coarctation of aorta | Congestive heart failure | Cyanosis | Failure to thrive | Hepatomegaly | Hyperhidrosis | Hypoplastic aortic arch | Hypoxemia | Interrupted aortic arch | Levotransposition of the great arteries | Maternal diabetes | Maternal teratogenic exposure | Patent ductus arteriosus | Right ventricular hypertrophy | Small for gestational age | Tachycardia | Tachypnea | Ventricular septal defect" ], "symptoms_ja_list": [ "うっ血性心不全 | チアノーゼ | 両室肥大 | 低酸素血症への感受性の減少 | 僧帽弁の異常 | 先天性修正大血管転位 | 冠動脈の異常 | 動脈管開存症 | 右室肥大 | 在胎月齢より小さい児 | 多呼吸 | 多汗 | 大動脈弓の異常 | 大動脈弓低形成 | 大動脈弓離断 | 大動脈縮窄 | 心シャント | 心室中隔欠損 | 心房中隔欠損 | 心拡大 | 成長障害 (成長不全) | 母体催奇因子の暴露 | 母体糖尿病 | 異常な心室-心房結合 | 肝腫 | 肺動脈弁の異常 | 肺静脈還流異常 | 血液循環の異常 | 頻拍" ] }, { "id": "NANDO:2100021", "label_en": "Bartter syndrome", "label_ja": "バーター症候群", "yomigana": "ばーたーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100021", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201134", "label_en": "Complete Behçet’s disease", "label_ja": "完全型ベーチェット病", "yomigana": "かんぜんがたべーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201134", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201164", "label_en": "Cockayne syndrome type 2", "label_ja": "コケイン症候群II型", "yomigana": "こけいんしょうこうぐん2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201164", "notificationNumber": "192", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal auditory evoked potentials | Abnormal facial shape | Abnormal hair morphology | Abnormal peripheral myelination | Abnormal pinna morphology | Abnormal skin pigmentation | Abnormality of visual evoked potentials | Anhidrosis | Anodontia | Anophthalmia | Arrhythmia | Ataxia | Atypical scarring of skin | Autosomal recessive inheritance | Axial hypotonia | Basal ganglia calcification | Carious teeth | Cerebellar calcifications | Cerebral atrophy | Childhood onset | Congenital onset | Conjunctivitis | Cryptorchidism | Cutaneous photosensitivity | Death in childhood | Decreased lacrimation | Decreased nerve conduction velocity | Deeply set eye | Delayed eruption of primary teeth | Dental malocclusion | Dermal atrophy | Developmental cataract | Dry hair | Dry skin | Enamel hypoplasia | Failure to thrive | Feeding difficulties in infancy | Flexion contracture | Gait disturbance | Hearing impairment | Hepatomegaly | Hypermelanotic macule | Hypermetropia | Hypertension | Hypoplasia of teeth | Hypoplasia of the iris | Hypoplastic iliac wing | Hypoplastic pelvis | Increased cellular sensitivity to UV light | Infantile onset | Intellectual disability | Intrauterine growth retardation | Ivory epiphyses of the phalanges of the hand | Kyphosis | Limb hypertonia | Limitation of joint mobility | Long face | Loss of facial adipose tissue | Lower limb spasticity | Macrotia | Male hypogonadism | Mandibular prognathia | Microcephaly | Microcornea | Micropenis | Microphthalmia | Muscle weakness | Neurodevelopmental delay | Normal pressure hydrocephalus | Nystagmus | Opacification of the corneal stroma | Optic atrophy | Osteoporosis | Patchy demyelination of subcortical white matter | Peripheral dysmyelination | Photophobia | Pigmentary retinopathy | Polyneuropathy | Postnatal growth retardation | Postural instability | Prematurely aged appearance | Progeroid facial appearance | Prominent nasal bridge | Proteinuria | Reduced subcutaneous adipose tissue | Renal insufficiency | Scarring | Scoliosis | Seizure | Sensorineural hearing impairment | Severe failure to thrive | Severe short stature | Short chin | Slender nose | Small for gestational age | Sparse hair | Splenomegaly | Square pelvis bone | Strabismus | Subcortical white matter calcifications | Thickened calvaria | Tremor | Triangular face | Uveitis | Visual impairment | Widely spaced primary teeth | obsolete Hypoplasia of the primary teeth" ], "symptoms_ja_list": [ "ブドウ膜炎 | プロゲリア様顔貌 | ポリニューロパチー | メラニン増加性斑 | 三角形の顔 | 下肢痙性 | 下顎突出 | 不整脈 | 不正咬合 | 乳歯低形成 | 乳歯萠出遅延 | 乳歯間隔離 | 乾いた毛髪 | 乾いた皮膚 | 体幹の筋緊張低下 | 停留精巣 | 側弯 | 先天性白内障 | 分厚い頭蓋冠 | 四肢筋緊張亢進 | 四角い骨盤 | 在胎月齢より小さい児 | 基底核石灰化 | 大耳 | 大脳萎縮 | 姿勢不安定 | 子宮内成長遅滞 | 小眼球 | 小脳石灰化 | 小角膜 | 小陰茎 | 小頭 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弯 | 感音難聴 | 成長障害 (成長不全) | 指骨象牙骨端 | 振戦 | 斜視 | 早老外観 | 末梢神経髄鞘異形成 | 正常圧水頭症 | 歩行障害 | 歯エナメル質低形成 | 歯低形成 | 毛髪の異常 | 流涙減少 | 無歯 | 無汗症 | 無眼球 | 生後の成長遅滞 | 男性性腺機能低下症 | 異常な末梢髄鞘形成 | 異常な聴性誘発反応 | 異常な顔の形 | 疎な毛髪 | 瘢痕 | 発作 | 皮下脂肪組織減少 | 皮膚光線過敏症 | 皮膚色素の異常 | 皮膚萎縮 | 皮質下白質 石灰化 | 皮質下白質斑状脱髄 | 目立つ鼻梁 | 眼振 | 知的障害 | 短い下顎 | 神経活動電位の振幅減少 | 神経発生遅延 | 筋虚弱 | 紫外線への細胞感受性増加 | 細い鼻 | 結膜炎 | 羞明 | 耳介の異常 | 肝腫 | 脾腫 | 腎不全 | 腸骨翼低形成 | 色素性網膜症 | 落ちくぼんだ眼 | 虹彩低形成 | 蛋白尿 | 視力障害 | 視神経萎縮 | 視覚誘発電位の異常 | 角膜間質混濁形成 | 運動失調 | 遠視 | 重度の低身長 | 重度の成長障害 (成長不全) | 長い顔 | 関節運動制限 | 難聴 | 非典型的皮膚瘢痕 | 顔面脂肪組織喪失 | 食餌摂取障害 in infancy | 骨盤低形成 | 骨粗鬆症 | 高血圧 | 齲歯" ] }, { "id": "NANDO:2200564", "label_en": "Krabbe disease", "label_ja": "クラッベ病", "yomigana": "くらっべびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200564", "notificationNumber": "114", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal flash visual evoked potentials | Abnormal thumb morphology | Abnormality of metabolism/homeostasis | Abnormality of peripheral nerve conduction | Aplasia/Hypoplasia of the abdominal wall musculature | Ataxia | Atypical behavior | Autoimmune thrombocytopenia | Autosomal recessive inheritance | Axial hypotonia | Blindness | CNS demyelination | Childhood onset | Cloverleaf skull | Clumsiness | Decreased nerve conduction velocity | Developmental regression | Diffuse cerebral atrophy | EEG abnormality | EMG abnormality | Erectile dysfunction | Failure to thrive | Feeding difficulties | Fever | Frequent falls | Gait disturbance | Generalized myoclonic seizure | Global developmental delay | Hand clenching | Hearing impairment | Hemiplegia/hemiparesis | Hydrocephalus | Hyperactive deep tendon reflexes | Hyperesthesia | Hypertonia | Hyporeflexia | Hypotonia | Increased CSF protein concentration | Infantile onset | Irritability | Motor deterioration | Muscle weakness | Myoclonus | Neurodegeneration | Nystagmus | Opisthotonus | Optic atrophy | Peripheral demyelination | Peripheral neuropathy | Pes cavus | Poor head control | Progressive spasticity | Recurrent fever | Recurrent respiratory infections | Respiratory failure | Seizure | Sensorimotor neuropathy | Sensorineural hearing impairment | Sensory neuropathy | Spastic paraparesis | Spasticity | Tetraplegia | Urinary incontinence | Visual impairment | Vomiting | Weight loss | Young adult onset" ], "symptoms_ja_list": [ "びまん性大脳萎縮 | クローバー型頭蓋骨 | フラッシュ視覚誘発電位の異常 | ミオクローヌス | 不器用 | 中枢神経脱髄 | 代謝/ホメオスターシスの異常 | 体幹の筋緊張低下 | 体重喪失 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 凹足 | 勃起異常 | 反射低下 | 反復性呼吸器感染症 | 呼吸不全 | 嘔吐 | 四肢麻痺 | 常染色体潜性遺伝 | 後弓反張 | 感覚ニューロパチー | 感覚運動ニューロパチー | 感音難聴 | 成長障害 (成長不全) | 握り手 | 末梢神経ニューロパチー | 末梢神経伝導の異常 | 末梢神経脱髄 | 歩行障害 | 母指の異常 | 水頭症 | 深部腱反射亢進 | 片麻痺/片側不全麻痺 | 痙性 | 痙性対不全麻痺 | 発作 | 発熱 | 発熱エピソード | 発達退行 | 盲 | 眼振 | 知覚過敏 | 神経変性 | 神経活動電位の振幅減少 | 筋緊張亢進 | 筋緊張低下 | 筋虚弱 | 筋電図異常 | 脳波異常 | 腹壁筋無形成/低形成 | 自己免疫性血小板減少 | 行動異常 | 被刺激性 | 視力障害 | 視神経萎縮 | 進行性痙性 | 運動失調 | 運動発達悪化 | 遺尿 | 難聴 | 頸定不全 | 頻回の転倒 | 食餌摂取障害 | 髄液タンパクの増加" ] }, { "id": "NANDO:2200399", "label_en": "Congenital hyperinsulinemia", "label_ja": "先天性高インスリン血症", "yomigana": "せんてんせいこういんすりんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200399", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100143", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200618", "label_en": "Cold agglutinin disease", "label_ja": "寒冷凝集素症", "yomigana": "かんれいぎょうしゅうそしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200618", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100181", "symptoms_en_list": [ "Abnormal urinary color | Arthralgia | Autoimmunity | Back pain | Diarrhea | Fatigue | Headache | Hemolytic anemia | Hepatomegaly | Lymphadenopathy | Muscle weakness | Nausea and vomiting | Pallor | Splenomegaly" ], "symptoms_ja_list": [ "リンパ節腫大 | 下痢 | 吐気と 嘔吐 | 尿色異常 | 溶血性貧血 | 疲労 | 筋虚弱 | 肝腫 | 背部痛 | 脾腫 | 自己免疫 | 蒼白 | 関節痛 | 頭痛" ] }, { "id": "NANDO:2100261", "label_en": "Chronic nonspecific multiple ulcers of the small intestine", "label_ja": "非特異性多発性小腸潰瘍症", "yomigana": "ひとくいせいたはつせいしょうちょうかいようしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100261", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201027", "label_en": "Blue rubber bleb nevus syndrome", "label_ja": "青色ゴムまり様母斑症候群", "yomigana": "あおいろごむまりようぼはんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201027", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100295", "symptoms_en_list": [ "Abnormality of coagulation | Abnormality of the liver | Abnormality of the mouth | Abnormality of the respiratory system | Abnormality of the vasculature | Arteriovenous malformation | Autosomal dominant inheritance | Bone pain | Cavernous hemangioma | Cerebellar medulloblastoma | Chronic disseminated intravascular coagulation | Gastrointestinal infarctions | Hemangioma | Hypermelanotic macule | Intestinal bleeding | Intussusception | Iron deficiency anemia | Microcytic anemia | Pathologic fracture | Prolonged bleeding time | Rectal prolapse | Skin rash | Subcutaneous nodule | Thrombocytopenia | Visceral angiomatosis | Volvulus" ], "symptoms_ja_list": [ "メラニン増加性斑 | 内臓血管腫症 | 凝固の異常 | 動静脈奇形 | 口の異常 | 呼吸器の異常 | 小球性貧血 | 小脳髄芽腫 | 常染色体顕性遺伝 | 慢性播種性血管内凝固 | 海綿状血管腫 | 病的骨折 | 皮下結節 | 皮膚発疹 | 直腸逸脱 | 肝の異常 | 胃腸梗塞 | 腸出血 | 腸捻転 | 腸重積 | 血小板減少 | 血管の異常 | 血管腫 | 遷出血時間遷延 | 鉄欠乏症貧血 | 骨痛" ] }, { "id": "NANDO:2200566", "label_en": "Multiple sulfatase deficiency", "label_ja": "マルチプルスルファターゼ欠損症", "yomigana": "まるちぷるするふぁたーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200566", "notificationNumber": "127", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal periventricular white matter morphology | Abnormal retinal pigmentation | Abnormality of peripheral nerve conduction | Anteverted nares | Ataxia | Autosomal recessive inheritance | Broad hallux | Broad hallux phalanx | Broad thumb | CNS demyelination | Cataract | Cerebellar atrophy | Cerebral atrophy | Coarse facial features | Coarse hair | Corneal opacity | Depressed nasal bridge | Developmental regression | Dysostosis multiplex | Flat face | Global developmental delay | Hearing impairment | Hepatomegaly | Hydrocephalus | Hypoplastic vertebral bodies | Ichthyosis | Increased CSF protein concentration | Intellectual disability | Joint stiffness | Large forehead | Lower limb hyperreflexia | Macrocephaly | Microcephaly | Mucopolysacchariduria | Neonatal hypotonia | Optic atrophy | Periorbital edema | Peripheral demyelination | Prominent forehead | Rapid neurologic deterioration | Retinal degeneration | Seizure | Sensorineural hearing impairment | Short stature | Smooth philtrum | Spasticity | Splenomegaly | Thick eyebrow | Ventriculomegaly | Visual impairment" ], "symptoms_ja_list": [ "ムコ多糖症 | 上向きの鼻孔 | 下肢反射亢進 | 中枢神経脱髄 | 低身長 | 全般性発達遅滞 | 分厚い眉毛 | 多発性異骨症 | 大きな額 | 大脳萎縮 | 大頭 | 小脳萎縮 | 小頭 | 常染色体潜性遺伝 | 幅広い母指 | 幅広い母趾 | 幅広い母趾趾骨 | 平坦な人中 | 平坦な顔 | 急速神経学的悪化 | 感音難聴 | 新生児筋緊張低下 | 末梢神経伝導の異常 | 末梢神経脱髄 | 椎体骨低形成 | 水頭症 | 痙性 | 発作 | 発達退行 | 白内障 | 目立つ額 | 眼窩周囲浮腫 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 網膜変性 | 網膜色素異常 | 肝腫 | 脳室周囲白質の異常 | 脳室拡大 | 脾腫 | 落ちくぼんだ鼻梁 | 視力障害 | 視神経萎縮 | 角膜混濁 | 運動失調 | 関節拘縮 | 難聴 | 髄液タンパクの増加 | 魚鱗癬" ] }, { "id": "NANDO:1200811", "label_en": "Porphyria", "label_ja": "ポルフィリン症", "yomigana": "ぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200811", "notificationNumber": "254", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200990", "label_en": "3-methylglutaconic aciduria type I", "label_ja": "メチルグルタコン酸尿症I型", "yomigana": "めちるぐるたこんさんにょうしょう1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200990", "notificationNumber": "324", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "3-Methylglutaconic aciduria | Abnormal basal ganglia morphology | Abnormal cerebral white matter morphology | Adult onset | Ataxia | Athetosis | Autosomal recessive inheritance | Cerebral atrophy | Cognitive impairment | Coma | Delayed speech and language development | Dementia | Dysarthria | Dystonia | Failure to thrive | Febrile seizure (within the age range of 3 months to 6 years) | Global developmental delay | Hepatomegaly | Hyperreflexia | Hypoglycemia | Infantile onset | Leukoencephalopathy | Metabolic acidosis | Microcephaly | Motor delay | Optic atrophy | Progressive cerebellar ataxia | Seizure | Self-mutilation | Short attention span | Spastic tetraparesis | Spastic tetraplegia | Spasticity | Urinary incontinence" ], "symptoms_ja_list": [ "3-メチルグルタコン酸尿症 | Dementia | アテトーゼ | ジストニア | 代謝性アシドーシス | 低血糖 | 全般性発達遅滞 | 反射亢進 | 基底核の異常 | 大脳白質の異常 | 大脳萎縮 | 小頭 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 昏睡 | 構音障害 | 熱性けいれん | 痙性 | 痙性四肢不全麻痺 | 痙性四肢麻痺 | 発作 | 発語および言語発達遅延 | 白質脳症 | 短い注意期間 | 肝腫 | 自己切断 | 視神経萎縮 | 認知障害 | 進行性小脳失調 | 運動失調 | 運動発達遅滞 | 遺尿" ] }, { "id": "NANDO:2200329", "label_en": "Hyperthyroidism", "label_ja": "甲状腺機能亢進症", "yomigana": "こうじょうせんきのうこうしんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200329", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100119", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200229", "label_en": "Hypertrophic cardiomyopathy", "label_ja": "肥大型心筋症", "yomigana": "ひだいがたしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200229", "notificationNumber": "88", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100054", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200412", "label_en": "McCune-Albright syndrome", "label_ja": "マッキューン・オルブライト症候群", "yomigana": "まっきゅーん・おるぶらいとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200412", "notificationNumber": "92", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100150", "symptoms_en_list": [ "Abnormal facial skeleton morphology | Abnormal femur morphology | Abnormal sexual behavior | Abnormal skull base morphology | Abnormal testis morphology | Abnormality of the face | Abnormality of the thyroid gland | Accelerated skeletal maturation | Aneurysmal bone cyst | Benign gastrointestinal tract tumors | Blindness | Bone marrow hypocellularity | Bone pain | Breast carcinoma | Cholestasis | Craniofacial hyperostosis | Decreased fertility | Dental malocclusion | Elevated circulating growth hormone concentration | Facial asymmetry | Fibrous dysplasia of the bones | Gastroesophageal reflux | Goiter | Growth abnormality | Hearing impairment | Hepatitis | Hepatocellular adenoma | Hyperparathyroidism | Hyperphosphaturia | Hyperplasia of the Leydig cells | Hyperthyroidism | Hypophosphatemia | Increased circulating cortisol level | Increased circulating prolactin concentration | Intestinal polyposis | Irregular menstruation | Juvenile onset | Large cafe-au-lait macules with irregular margins | Macroorchidism | Monostotic fibrous dysplasia | Nasal congestion | Osteomalacia | Ovarian cyst | Pancreatitis | Pancytopenia | Paresthesia | Pathologic fracture | Pituitary adenoma | Polyostotic fibrous dysplasia | Precocious puberty | Primary hypercortisolism | Recurrent fractures | Renal phosphate wasting | Renal tubular dysfunction | Scoliosis | Typified by somatic mosaicism | Visual loss" ], "symptoms_ja_list": [ "Leydig 細胞過形成 | プロラクチン過剰症 | 下垂体腺腫 | 不正咬合 | 不規則な縁を伴う大きなカフェオーレ斑 | 不適切な性的行動 | 乳房癌 | 低リン血症 | 体細胞モザイク | 側弯 | 副甲状腺機能亢進症 | 動脈瘤骨嚢胞 | 単骨線維性異形成 | 卵巣嚢胞 | 原発性副腎皮質機能亢進症 | 反復性骨折 | 多骨性線維性異形成 | 大腿骨の異常 | 妊孕性減少 | 巨大精巣 | 循環性コルチゾール 値増加 | 思春期早発 | 感覚異常 | 成長ホルモン過剰症 | 成長異常 | 月経不純 | 汎血球減少症 | 甲状腺機能亢進症 | 甲状腺異常 | 甲状腺腫 | 病的骨折 | 盲 | 精巣異常 | 肝炎 | 肝細胞腺腫 | 胃食道逆流 | 胆汁うっ滞 | 腎尿細管機能障害 | 腎性リン喪失 | 腸ポリープ症 | 膵炎 | 良性胃腸管腫瘍 | 視力喪失 | 難聴 | 頭蓋底の異常 | 頭蓋顔面過骨症 | 顔の異常 | 顔面非対称 | 顔面骨格異常 | 骨の線維性異形成 | 骨成熟促進 | 骨痛 | 骨軟化症 | 骨髄細胞数増多 | 高リン尿 | 鼻閉" ] }, { "id": "NANDO:1200454", "label_en": "Eosinophilic gastrointestinal disorders", "label_ja": "好酸球性消化管疾患", "yomigana": "こうさんきゅうせいしょうかかんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200454", "notificationNumber": "98", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200530", "label_en": "Dystonia 17", "label_ja": "DYT17ジストニア", "yomigana": "でぃーわいてぃー17じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200530", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal recessive inheritance | Cerebral cortical atrophy | Craniofacial dystonia | Dysarthria | Dysphonia | Focal dystonia | Generalized dystonia | Parkinsonism | Torticollis" ], "symptoms_ja_list": [ "パーキンソン症候群 | 全身性ジストニア | 大脳皮質萎縮 | 常染色体潜性遺伝 | 斜頚 | 構音障害 | 焦点性ジストニア | 発音障害 | 頭蓋顔面ジストニア" ] }, { "id": "NANDO:2200909", "label_en": "Glucose-galactose malabsorption", "label_ja": "先天性グルコース・ガラクトース吸収不良症", "yomigana": "せんてんせいぐるこーす・がらくとーすきゅうしゅうふりょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200909", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100254", "symptoms_en_list": [ "Abdominal distention | Abnormal oral glucose tolerance | Autosomal recessive inheritance | Chronic diarrhea | Dehydration | Diarrhea | Failure to thrive | Fever | Glycosuria | Hematuria | Hypercalcemia | Hypernatremia | Hypertonic dehydration | Kidney stone | Malabsorption | Malnutrition | Metabolic acidosis | Neonatal onset | Renal insufficiency | Vomiting | Weight loss" ], "symptoms_ja_list": [ "下痢 | 代謝性アシドーシス | 体重喪失 | 吸収障害 | 嘔吐 | 尿糖 | 常染色体潜性遺伝 | 慢性下痢 | 成長障害 (成長不全) | 栄養失調 | 発熱 | 経口ブドウ糖負荷異常 | 脱水 | 腎不全 | 腎結石 | 腹部膨満 | 血尿 | 高カルシウム血症 | 高ナトリウム血症 | 高張性脱水" ] }, { "id": "NANDO:2200527", "label_en": "Leigh syndrome", "label_ja": "リー症候群", "yomigana": "りーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200527", "notificationNumber": "92", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [ "3-Methylglutaconic aciduria | Abnormal basal ganglia MRI signal intensity | Abnormal brainstem MRI signal intensity | Abnormal circulating enzyme concentration or activity | Abnormal dentate nucleus morphology | Abnormal facial shape | Abnormal optic nerve morphology | Abnormal pattern of respiration | Abnormal thalamic MRI signal intensity | Abnormality of extrapyramidal motor function | Abnormality of movement | Abnormality of the skeletal system | Agenesis of corpus callosum | Alopecia | Anemia | Ataxia | Athetosis | Autosomal recessive inheritance | CNS demyelination | Cataract | Cerebellar atrophy | Childhood onset | Chorea | Choreoathetosis | Complex organic aciduria | Congestive heart failure | Decreased activity of mitochondrial complex I | Decreased activity of mitochondrial complex II | Decreased activity of mitochondrial complex III | Decreased activity of mitochondrial complex IV | Decreased activity of mitochondrial respiratory chain | Decreased activity of the pyruvate dehydrogenase complex | Decreased total neutrophil count | Developmental regression | Diffuse spongiform leukoencephalopathy | Distal muscle weakness | Dysarthria | Dyskinesia | Dysphagia | Dystonia | Eczematoid dermatitis | Elevated brain lactate level by MRS | Emotional lability | Ethylmalonic aciduria | Failure to thrive | Feeding difficulties | Floppy infant | Focal T2 hyperintense basal ganglia lesion | Focal T2 hyperintense brainstem lesion | Frontal hirsutism | Gastrointestinal dysmotility | Generalized aminoaciduria | Generalized hypotonia | Gliosis | Global developmental delay | Growth delay | Hepatic failure | Hepatocellular necrosis | High forehead | Hyperalaninemia | Hyperkinetic movements | Hyperreflexia | Hypertrichosis | Hypertrophic cardiomyopathy | Hypoglycemia | Hypoplasia of the corpus callosum | Hypotonia | Hypsarrhythmia | Increased CSF lactate | Increased circulating lactate concentration | Infantile onset | Infantile spasms | Intellectual disability | Intrauterine growth retardation | Involuntary movements | Ketoacidosis | Lactic acidosis | Lacticaciduria | Leukodystrophy | Macrotia | Methylmalonic aciduria | Mitochondrial inheritance | Multiple joint contractures | Muscle weakness | Myopathy | Nephrotic syndrome | Neuronal loss in basal ganglia | Nystagmus | Olivopontocerebellar atrophy | Ophthalmoplegia | Optic atrophy | Peripheral neuropathy | Pigmentary retinopathy | Progressive | Progressive neurologic deterioration | Ptosis | Renal tubular acidosis | Renal tubular dysfunction | Respiratory failure | Respiratory insufficiency | Seizure | Sensorineural hearing impairment | Sensory axonal neuropathy | Skeletal muscle atrophy | Spastic diplegia | Spasticity | Status epilepticus | Strabismus | Upper motor neuron dysfunction | Ventricular septal defect" ], "symptoms_ja_list": [ "3-メチルグルタコン酸尿症 | MRSによる脳尿酸値上昇 | うっ血性心不全 | てんかん重積 | びまん性海綿状白質脳症 | アテトーゼ | エチルマロン酸尿 | オリーブ核橋小脳萎縮 | ケトアシドーシス | ジスキネジア | ジストニア | ネフローゼ症候群 | ヒプスアリスミア | ピルビン酸脱水素酵素 (PDH) 複合体活性の減少 | ミオパチー | ミトコンドリア呼吸鎖活性の減少 | ミトコンドリア複合体 I の活性減少 | ミトコンドリア複合体 II の活性減少 | ミトコンドリア複合体 III の活性減少 | ミトコンドリア複合体 IV の活性減少 | ミトコンドリア遺伝 | メチルマロン酸尿 | ロイコジストロフィー | 不随意運動 | 中枢神経脱髄 | 乳児スパスム | 乳児筋性筋緊張低下 | 乳酸尿 | 乳酸性アシドーシス | 低血糖 | 全般性発達遅滞 | 全身性筋緊張低下 | 前頭部多毛 | 反射亢進 | 呼吸パターンの異常 | 呼吸不全 | 嚥下障害 | 基底核のニューロン喪失 | 多動 | 多毛症 | 多発性関節拘縮 | 大耳 | 好中球減少症 | 子宮内成長遅滞 | 小脳萎縮 | 巣状 T2 高輝度基底核病変 | 巣状 T2 高輝度脳幹病変 | 常染色体潜性遺伝 | 心室中隔欠損 | 情動不安定 | 感覚性軸索ニューロパチー | 感音難聴 | 成長遅滞 | 成長障害 (成長不全) | 斜視 | 末梢神経ニューロパチー | 構音障害 | 歯状核の異常 | 汎アミノ酸尿 | 湿疹 | 異常な基底核 MRI シグナル強度 | 異常な脳幹 MRI シグナル強度 | 異常な視床MRI シグナル強度 | 異常な顔の形 | 痙性 | 痙性両麻痺 | 発作 | 発達退行 | 白内障 | 皮質脊髄路機能障害 | 眼振 | 眼瞼下垂 | 眼筋麻痺 | 知的障害 | 神経膠症 | 禿頭 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 肝不全 | 肝細胞壊死 | 肥大型心筋症 | 胃腸蠕動運動異常 | 脳梁低形成 | 脳梁無発生 of | 腎尿細管アシドーシス | 腎尿細管機能障害 | 舞踏病 | 舞踏病アテトーゼ | 色素性網膜症 | 血清乳酸増加 | 複合性有機酸尿 | 視神経の異常 | 視神経萎縮 | 貧血 | 進行性神経学的悪化 | 運動の異常 | 運動失調 | 遠位筋虚弱 | 錐体外路運動機能の異常 | 食餌摂取障害 | 骨格の異常 | 髄液乳酸増加 | 高い額 | 高アラニン血症 | 高度/補酵素活性異常" ] }, { "id": "NANDO:1200691", "label_en": "Fragile X tremor/ataxia syndrome", "label_ja": "脆弱 X 随伴振戦/失調症候群", "yomigana": "ぜいじゃくえっくすずいはんしんせん/しっちょうしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200691", "notificationNumber": "205", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal brainstem morphology | Action tremor | Agitation | Anxiety | Ataxia | Bowel incontinence | Bradykinesia | Cerebellar atrophy | Cerebral cortical atrophy | Compulsive behaviors | Dementia | Depression | Diffuse cerebellar atrophy | Diffuse cerebral atrophy | Disinhibition | Dysarthria | Dysdiadochokinesis | Dysesthesia | Dysmetria | Dysphagia | Gait ataxia | Gait disturbance | Hearing impairment | Hypertension | Hyporeflexia | Hypotension | Hypothyroidism | Impaired distal vibration sensation | Impotence | Intention tremor | Irritability | Late onset | Lower limb muscle weakness | Mask-like facies | Memory impairment | Mental deterioration | Muscle weakness | Myalgia | Nystagmus | Obsessive-compulsive trait | Parkinsonism | Peripheral neuropathy | Pollakisuria | Poor fine motor coordination | Postural instability | Postural tremor | Premature ovarian insufficiency | Resting tremor | Rigidity | Saccadic smooth pursuit interruptions | Ubiquitin-positive cerebral inclusion bodies | Urinary bladder sphincter dysfunction | Urinary incontinence | X-linked dominant inheritance" ], "symptoms_ja_list": [ "Dementia | X連鎖顕性遺伝 | うつ | びまん性大脳萎縮 | びまん性小脳萎縮 | インポテンス | サッカード性滑らかな追視 | パーキンソン症候群 | ユビキチン陽性大脳封入体 | 下肢筋虚弱 | 不安 | 不穏 | 仮面様顔貌 | 企図振戦 | 低血圧 | 作動振戦 | 反射低下 | 嚥下障害 | 大脳皮質萎縮 | 姿勢不安定 | 姿勢性振戦 | 安静時振戦 | 小脳萎縮 | 強迫性形質 | 強迫性行動 | 微細運動協調不全 | 感覚異常 | 拮抗運動反復不全 | 早発性卵巣不全 | 末梢神経ニューロパチー | 構音障害 | 歩行失調 | 歩行障害 | 測定障害 | 甲状腺機能低下症 | 異常な自律神経生理 | 眼振 | 知能悪化 | 硬直 | 筋痛 | 筋虚弱 | 脱抑制 | 脳幹形態の異常 | 膀胱括約筋機能障害 | 被刺激性 | 記憶障害 | 運動失調 | 運動緩徐 | 遠位振動覚障害 | 遺尿 | 遺糞症 | 難聴 | 頻用 | 高血圧" ] }, { "id": "NANDO:2200699", "label_en": "CD8 deficiency", "label_ja": "CD8欠損症", "yomigana": "しーでぃー8けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200699", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100203", "symptoms_en_list": [ "Absence of CD8+ T cells | Autosomal recessive inheritance | Bronchiectasis | Congenital onset | Recurrent bacterial infections | Recurrent respiratory infections | Recurrent viral infections" ], "symptoms_ja_list": [ "CD8+ T 細胞欠損 | 反復性ウイルス感染症 | 反復性呼吸器感染症 | 反復性細菌感染症 | 常染色体潜性遺伝 | 気管支拡張" ] }, { "id": "NANDO:2201278", "label_en": "Hepatitis-associated aplastic anemia", "label_ja": "肝炎後再生不良性貧血", "yomigana": "かんえんごさいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2201278", "notificationNumber": "20", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100201", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201158", "label_en": "Marfan syndrome", "label_ja": "マルファン症候群", "yomigana": "まるふぁんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1201158", "notificationNumber": "167", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [ "Abnormal left ventricular function | Abnormal zygomatic bone morphology | Aortic aneurysm | Aortic dissection | Aortic regurgitation | Aortic root aneurysm | Aortic tortuosity | Arachnodactyly | Arterial dissection | Arthralgia/arthritis | Ascending tubular aorta aneurysm | Astigmatism | Attention deficit hyperactivity disorder | Autosomal dominant inheritance | Bicuspid aortic valve | Cachexia | Camptodactyly | Cataract | Chronic fatigue | Cleft palate | Congestive heart failure | Decreased muscle mass | Deeply set eye | Dental crowding | Dilatation of an abdominal artery | Disproportionate tall stature | Dolichocephaly | Downslanted palpebral fissures | Dural ectasia | Ectopia lentis | Emphysema | Equinus calcaneus | Esotropia | Exotropia | Flat cornea | Flexion contracture | Genu recurvatum | Glaucoma | Hammertoe | Hemoptysis | High palate | High", "narrow palate | Hypoplasia of the iris | Hypotonia | Incisional hernia | Increased axial length of the globe | Inguinal hernia | Insomnia | Joint hypermobility | Kyphoscoliosis | Kyphosis | Lens luxation | Lens subluxation | Limited elbow extension | Limited elbow movement | Long face | Malar flattening | Medial rotation of the medial malleolus | Meningocele | Metatarsus adductus | Micrognathia | Mitral annular calcification | Mitral regurgitation | Mitral valve calcification | Mitral valve prolapse | Myalgia | Myopia | Narrow face | Narrow foot | Narrow palate | Open bite | Osteopenia | Osteoporosis | Pectus carinatum | Pectus excavatum | Pes cavus | Pes planus | Pneumothorax | Premature osteoarthritis | Protrusio acetabuli | Pulmonary artery dilatation | Reduced bone mineral density | Reduced subcutaneous adipose tissue | Reduced upper to lower segment ratio | Retinal detachment | Retrognathia | Scoliosis | Skeletal muscle atrophy | Sleep apnea | Sleep disturbance | Slender build | Spondylolisthesis | Spontaneous pneumothorax | Strabismus | Striae distensae | Talipes | Tall stature | Tricuspid regurgitation | Tricuspid valve prolapse | Ventricular tachycardia | Visual impairment" ], "symptoms_ja_list": [ "うっ血性心不全 | くも指 | はと胸 | 三尖弁逆流 | 三尖弁逸脱 | 上節/下節比の減少 | 上行大動脈拡張 | 下顎後退 | 不均衡型高身長 | 不眠 | 乱視 | 二弁性大動脈弁 | 伸展線 | 側弯 | 僧帽弁石灰化 | 僧帽弁逆流 | 僧帽弁逸脱 | 内斜視 | 内転中足骨 | 内顆の内方回転 | 凹足 | 動脈解離 | 反張膝 | 口蓋裂 | 喀血 | 外斜視 | 大動脈基部拡大 | 大動脈瘤 | 大動脈蛇行性 | 大動脈解離 | 大動脈逆流 | 寛骨臼突出 | 小顎 | 尖足 | 屈指 | 屈曲拘縮 | 左室機能障害 | 常染色体顕性遺伝 | 平坦な角膜 | 平坦な頬 | 後側弯 | 後弯 | 心室性 頻拍 | 悪液質 (カヘキシー) | 慢性疲労 | 扁平足 | 斜視 | 早発性僧帽弁輪部石灰化 | 早発性骨関節炎 | 槌趾 | 歯混雑 | 気胸 | 水晶体 亜脱臼 | 水晶体脱臼 | 注意力欠陥多動性疾患 | 漏斗胸 | 狭い口蓋 | 狭い足 | 狭い顔 | 異所性水晶体 | 瘢痕ヘルニア | 白内障 | 皮下脂肪組織減少 | 眼瞼裂斜下 | 睡眠時無呼吸 | 睡眠障害 | 硬膜拡張 | 筋痛 | 筋緊張低下 | 筋萎縮 | 筋量減少 | 細い体型 | 網膜剥離 | 緑内障 | 肘伸展制限 | 肘運動制限 | 肺動脈拡張 | 肺気腫 | 脊椎すべり症 | 腹大動脈瘤 | 自然気胸 | 落ちくぼんだ眼 | 虹彩低形成 | 視力障害 | 踵骨尖足 | 軸性眼球長増加 | 近視 | 長い顔 | 長頭 | 開放咬合 | 関節痛/関節炎 | 関節過動 | 顴骨の異常 | 骨ミネラル濃度減少 | 骨減少症 | 骨粗鬆症 | 髄膜瘤 | 高口蓋 | 高狭口蓋 | 高身長 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201180", "label_en": "Mucopolysaccharidosis type VI, mild form", "label_ja": "軽症型ムコ多糖症VI型", "yomigana": "けいしょうがたむこたとうしょう6がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201180", "notificationNumber": "133", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1100007", "label_en": "Renal and urological disease", "label_ja": "腎・泌尿器系疾患", "yomigana": "じん・ひにょうきけいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1100007", "notificationNumber": "", "obsolete": "", "category": "shitei", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201167", "label_en": "Glycogen storage disease type IXd", "label_ja": "糖原病IXd型", "yomigana": "とうげんびょう9でぃーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201167", "notificationNumber": "69", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Camptocormia | Difficulty climbing stairs | Distal amyotrophy | Distal muscle weakness | EMG: myopathic abnormalities | Elevated circulating creatine kinase activity | Exercise intolerance | Exercise-induced muscle stiffness | Exercise-induced myalgia | Exercise-induced myoglobinuria | Fatigue | Gait disturbance | Gowers sign | Hypoglycemia | Hyporeflexia | Increased muscle glycogen content | Lower limb muscle weakness | Middle age onset | Muscle fiber necrosis | Muscle spasm | Muscle weakness | Myalgia | Myoglobinuria | Pelvic girdle muscle weakness | Progressive muscle weakness | Quadriceps muscle weakness | Skeletal muscle atrophy | X-linked recessive inheritance" ], "symptoms_ja_list": [ "Gowers サイン | X連鎖潜性遺伝 | ミオグロビン尿 | 下肢筋虚弱 | 低血糖 | 前屈症 | 反射低下 | 大腿四頭筋 筋虚弱 | 歩行障害 | 疲労 | 筋けいれん | 筋グリコーゲン量増加 | 筋痛 | 筋線維壊死 | 筋萎縮 | 筋虚弱 | 筋電図: ミオパチー異常 | 血清 creatine phosphokinase上昇 | 進行性筋虚弱 | 運動不耐症 | 運動誘発性ミオグロビン尿 | 運動誘発性筋痛 | 運動誘発性筋硬直 | 遠位筋萎縮 | 遠位筋虚弱 | 階段の登り困難 | 骨盤帯筋筋虚弱" ] }, { "id": "NANDO:1200546", "label_en": "Hereditary diffuse leukoencephalopathy with spheroid", "label_ja": "神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症", "yomigana": "しんけいじくさくすふぇろいどけいせいをともなういでんせいびまんせいはくしつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200546", "notificationNumber": "125", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200718", "label_en": "Hyper-IgM syndrome", "label_ja": "高IgM症候群", "yomigana": "こうあいじーえむしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200718", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100205", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200833", "label_en": "Hutchinson-Gilford syndrome", "label_ja": "ハッチンソン・ギルフォード症候群", "yomigana": "はっちんそん・ぎるふぉーどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200833", "notificationNumber": "61", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100221", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal mitral valve morphology | Abnormal nasal tip morphology | Abnormal thorax morphology | Abnormally high-pitched voice | Absence of subcutaneous fat | Absent eyebrow | Alopecia | Alopecia totalis | Angina pectoris | Ankyloglossia | Aortic regurgitation | Aortic valve calcification | Aortic valve stenosis | Atherosclerosis | Autosomal dominant inheritance | Autosomal recessive inheritance | Avascular necrosis | Carotid artery occlusion | Conductive hearing impairment | Congestive heart failure | Convex nasal ridge | Corneal opacity | Corneal ulceration | Coxa valga | Craniofacial disproportion | Cyanosis | Decreased serum leptin | Delayed eruption of teeth | Delayed menarche | Dental crowding | Dermal atrophy | Dystrophic fingernails | Dystrophic toenail | Ectopic calcification | Exertional dyspnea | Female hypogonadism | Generalized abnormality of skin | Growth delay | High palate | High-frequency sensorineural hearing impairment | Hip dislocation | Hypermelanotic macule | Hypertension | Hypodontia | Hypoplastic male external genitalia | Impacted tooth | Insulin resistance | Intracranial hemorrhage | Joint stiffness | Lack of skin elasticity | Limitation of joint mobility | Limitation of movement at ankles | Limited hip movement | Limited shoulder movement | Limited wrist movement | Loss of eyelashes | Low-frequency sensorineural hearing impairment | Malar flattening | Micrognathia | Midface retrusion | Mitral regurgitation | Mitral stenosis | Mitral valve calcification | Myocardial infarction | Narrow mouth | Narrow nasal ridge | Narrow nasal tip | Osteoarthritis | Osteolysis | Osteolytic defects of the distal phalanges of the hand | Papule | Patchy alopecia | Persistence of primary teeth | Precocious atherosclerosis | Premature coronary artery atherosclerosis | Premature skin wrinkling | Progressive clavicular acroosteolysis | Prominent ear helix | Prominent superficial blood vessels | Prominent umbilicus | Pubertal developmental failure in females | Pulmonary arterial hypertension | Reduced bone mineral density | Relative macrocephaly | Retrognathia | Severe failure to thrive | Shallow orbits | Short chin | Short clavicles | Short lingual frenulum | Shuffling gait | Stroke | Thin vermilion border | Transient ischemic attack | Upper airway obstruction | Ventricular hypertrophy | Weight loss" ], "symptoms_ja_list": [ "うっ血性心不全 | ひきずり歩行 | インスリン抵抗性 | チアノーゼ | メラニン増加性斑 | 一過性虚血発作 | 上気道閉塞 | 下顎後退 | 丘疹 | 乳歯遺残 | 伝音難聴 | 低音感音難聴 | 体重喪失 | 僧帽弁の異常 | 僧帽弁狭窄 | 僧帽弁石灰化 | 僧帽弁逆流 | 全禿頭 | 全身性皮膚異常 | 凸の鼻梁 | 初潮遅延 | 動脈硬化症 | 卒中 | 埋伏歯 | 外反股 | 大動脈弁の異常 | 大動脈弁狭窄 | 大動脈弁石灰化 | 大動脈逆流 | 女性での思春期発達不全 | 女性性腺機能低下症 hypogonadism | 小顎 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 平坦な頬 | 心室肥大 | 心筋梗塞 | 成長遅滞 | 手の末節骨のの骨融解病変 | 手関節運動制限 | 指爪ジストロフィー | 斑状禿頭 | 早発性冠動脈疾患 | 早発性動脈硬化症 | 早発性皮膚皺 | 歯混雑 | 歯萠出遅延 | 比較的大頭 | 浅い眼窩 | 減歯症 | 無菌性壊死 | 狭い口 | 狭い鼻尖 | 狭い鼻梁 | 狭心症 | 男性外性器低形成 | 異所性石灰化 | 皮下脂肪の異常 | 皮膚弾性欠如 | 皮膚萎縮 | 目立つ体表血管 | 目立つ耳輪 | 眉毛欠損 | 睫毛喪失 | 短い下顎 | 短い舌小帯 | 短い鎖骨 | 禿頭 | 股関節脱臼 | 股関節運動制限 | 肩運動制限 | 肺高血圧 | 胸郭の異常 | 臍突出 | 舌癒着 | 薄い唇紅部縁 | 血清レプチン減少 | 角膜混濁 | 角膜潰瘍 | 足関節運動制限 | 趾爪ジストロフィー | 進行性鎖骨先端骨融解 | 運動性呼吸困難 | 重度の成長障害 (成長不全) | 関節拘縮 | 関節運動制限 | 頚動脈閉塞 | 頭蓋内出血 | 頭蓋顔面不均衡 | 顔面中部後退 | 骨ミネラル濃度減少 | 骨融解 | 骨関節炎 | 高口蓋 | 高血圧 | 高音の声 | 高音感音難聴 | 鼻尖の異常" ] }, { "id": "NANDO:2200622", "label_en": "Hereditary spherocytosis", "label_ja": "遺伝性球状赤血球症", "yomigana": "いでんせいきゅうじょうせっけっきゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200622", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Anemia | Ataxia | Cholelithiasis | Extramedullary hematopoiesis | Fever | Gout | Growth delay | Hepatomegaly | Hyperbilirubinemia | Hypercoagulability | Hypofibrinogenemia | Increased red cell osmotic fragility | Jaundice | Muscle weakness | Myalgia | Pallor | Restrictive cardiomyopathy | Reticulocytosis | Skin ulcer | Spherocytosis | Splenomegaly | Spontaneous hemolytic crises" ], "symptoms_ja_list": [ "低フィブリノーゲン血症 | 凝固促進 | 成長遅滞 | 拘束性心筋症 | 球状赤血球症 | 発熱 | 皮膚潰瘍 | 筋痛 | 筋虚弱 | 網状赤血球増多症 | 肝腫 | 胆石症 | 脾腫 | 腹痛 | 腹部膨満 | 自然溶血性クライシス | 蒼白 | 貧血 | 赤血球浸透圧脆弱性の増加 | 通風 | 運動失調 | 髄外造血 | 高ビリルビン血症 | 黄疸" ] }, { "id": "NANDO:2201289", "label_en": "Pelizaeus-Merzbacher like disease", "label_ja": "ペリツェウス・メルツバッハ様病１", "yomigana": "ぺりつぇうす・めるつばっはようびょう1", "url": "http://nanbyodata.jp/ontology/NANDO_2201289", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200049", "label_en": "Autosomal recessive hereditary spinocerebellar degeneration", "label_ja": "常染色体劣性遺伝性脊髄小脳変性症", "yomigana": "じょうせんしょくたいれっせいいでんせいせきずいしょうのうへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200049", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201070", "label_en": "Maturity-onset diabetes of the young type 2", "label_ja": "MODY2", "yomigana": "えむおーでぃーわい2", "url": "http://nanbyodata.jp/ontology/NANDO_2201070", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [ "Autosomal dominant inheritance | Juvenile onset | Maturity-onset diabetes of the young" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 若年発症成人型糖尿病" ] }, { "id": "NANDO:2100125", "label_en": "Autoimmune polyendocrinopathy", "label_ja": "自己免疫性多内分泌腺症候群", "yomigana": "じこめんえきせいたないぶんぴつせんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100125", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100288", "label_en": "Pachydermoperiostosis", "label_ja": "肥厚性皮膚骨膜症", "yomigana": "ひこうせいひふこつまくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100288", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100281", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200032", "label_en": "Sporadic inclusion body myositis", "label_ja": "封入体筋炎", "yomigana": "ふうにゅうたいきんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200032", "notificationNumber": "15", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal muscle fiber morphology | Autoimmunity | Autosomal dominant inheritance | Diminished deep tendon reflex | Distal muscle weakness | Dysphagia | EMG abnormality | Elevated circulating creatine kinase activity | Feeding difficulties in infancy | Hyporeflexia | Inflammatory myopathy | Myalgia | Proximal muscle weakness | Quadriceps muscle weakness | Ragged-red muscle fibers | Rimmed vacuoles | Skeletal muscle atrophy | Slowly progressive | Sporadic" ], "symptoms_ja_list": [ "Ragged-red 筋線維 | 反射低下 | 嚥下障害 | 大腿四頭筋 筋虚弱 | 孤発性 | 常染色体顕性遺伝 | 炎症性ミオパチー | 筋痛 | 筋線維の異常 | 筋萎縮 | 筋電図異常 | 縁取り空胞 | 腱反射減少 | 自己免疫 | 血清 creatine phosphokinase上昇 | 近位筋虚弱 | 遠位筋虚弱 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200667", "label_en": "Apert syndrome", "label_ja": "アペール症候群", "yomigana": "あぺーるしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200667", "notificationNumber": "182", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal morphology of the limbic system | Abnormal semicircular canal morphology | Abnormality of the genitourinary system | Absent septum pellucidum | Acne | Acrobrachycephaly | Agenesis of corpus callosum | Airway obstruction | Anisometropia | Anomalous tracheal cartilage | Anteverted nares | Aplasia/Hypoplasia of the thumb | Arachnoid cyst | Autosomal dominant inheritance | Bifid uvula | Brachycephaly | Brachyturricephaly | Broad distal hallux | Broad distal phalanx of the thumb | Broad forehead | Broad hallux | Broad thumb | Cerebellar hypoplasia | Cervical C5/C6 vertebrae fusion | Chiari malformation | Chiari type I malformation | Choanal atresia | Choanal stenosis | Chronic otitis media | Cleft palate | Cloverleaf skull | Conductive hearing impairment | Congenital onset | Convex nasal ridge | Corneal erosion | Coronal craniosynostosis | Craniosynostosis | Cryptorchidism | Cutaneous finger syndactyly | Cutaneous syndactyly | Cutaneous syndactyly of toes | Delayed cranial suture closure | Delayed epiphyseal ossification | Delayed eruption of teeth | Dental crowding | Dental malocclusion | Depressed nasal bridge | Downslanted palpebral fissures | Ectopic anus | Esophageal atresia | Facial asymmetry | Feeding difficulties in infancy | Finger syndactyly | Flat face | Frontal bossing | Growth abnormality | Hearing impairment | High forehead | High palate | Humeroradial synostosis | Hydrocephalus | Hydronephrosis | Hyperhidrosis | Hypertelorism | Hypertension | Hypoplasia of the maxilla | Intellectual disability | Lambdoidal craniosynostosis | Large fontanelles | Limited elbow movement | Low-set ears | Malar flattening | Mandibular prognathia | Megalencephaly | Micromelia | Midface retrusion | Myopia | Nail dystrophy | Narrow palate | Optic atrophy | Otitis media | Overriding aorta | Pectus carinatum | Polyhydramnios | Postaxial hand polydactyly | Posterior fossa cyst | Posteriorly rotated ears | Preaxial hand polydactyly | Prominent forehead | Proptosis | Pyloric stenosis | Respiratory insufficiency | Rhizomelic arm shortening | Sagittal craniosynostosis | Sensorineural hearing impairment | Shallow orbits | Strabismus | Syndactyly | Synostosis of carpal bones | Thin upper lip vermilion | Toe syndactyly | Vaginal atresia | Ventricular septal defect | Ventriculomegaly | Vertebral segmentation defect | Visual impairment | Wide intermamillary distance" ], "symptoms_ja_list": [ "?瘡 | Arnold-Chiari 奇形 | I 型Arnold-Chiari 奇形 | くも膜嚢胞 | はと胸 | クローバー型頭蓋骨 | 三半規管の形態異常 | 上向きの鼻孔 | 上腕骨橈骨癒合 | 上顎低形成 | 下顎突出 | 不同視 | 不正咬合 | 両眼隔離 | 中耳炎 | 二分した口蓋垂 | 人字縫合早期癒合 | 伝音難聴 | 停留精巣 | 先端短頭 | 冠状縫合早期癒合 | 凸の鼻梁 | 前頭突出", "額突出 | 口蓋裂 | 合指症 | 合指趾症 | 合趾症 | 呼吸不全 | 四肢近位短縮性腕短縮 | 多汗 | 大きな泉門 | 大動脈騎乗 | 大脳辺縁系奇形 | 小肢症 | 小脳低形成 | 巨大脳症 | 常染色体顕性遺伝 | 幅広い乳頭間距離 | 幅広い母指 | 幅広い母指末節骨 | 幅広い母趾 | 幅広い遠位母趾 | 幅広い額 | 平坦な頬 | 平坦な顔 | 幽門狭窄 | 後頭窩嚢胞 | 後鼻孔狭窄 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 感音難聴 | 慢性中耳炎 | 成長異常 | 手根骨癒合症 | 斜視 | 歯混雑 | 歯萠出遅延 | 母指無形成/低形成 | 気管軟骨異常 | 水腎症 | 水頭症 | 泌尿生殖器異常 | 浅い眼窩 | 爪ジストロフィー | 狭い口蓋 | 異所性肛門 | 皮膚性合指症 | 皮膚性合趾症 | 目立つ額 | 眼球突出 | 眼瞼裂斜下 | 矢状縫合早期癒合 | 知的障害 | 短塔状頭 | 短頭 | 羊水過多 | 耳介低位 | 耳介後方回転 | 肘運動制限 | 脊椎分節異常 | 脳室拡大 | 脳梁無発生 of | 膣閉鎖 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 視力障害 | 視神経萎縮 | 角膜びらん | 軸前性多指症 | 軸後性多指症 | 近視 | 透明中隔欠損 | 閉塞性肺疾患 | 難聴 | 頚椎癒合 (C5/C6) | 頭蓋合骨症 | 頭蓋骨縫合閉鎖遅延 | 顔面中部後退 | 顔面非対称 | 食道閉鎖 | 食餌摂取障害 in infancy | 骨端骨化遅延 | 高い額 | 高口蓋 | 高血圧" ] }, { "id": "NANDO:2201413", "label_en": "Bilirubin encephalopathy in preterm infants", "label_ja": "早産児ビリルビン脳症", "yomigana": "そうざんじびりるびんのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201413", "notificationNumber": "58", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100303", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200140", "label_en": "Nephronophthisis", "label_ja": "ネフロン癆", "yomigana": "ねふろんろう", "url": "http://nanbyodata.jp/ontology/NANDO_2200140", "notificationNumber": "29", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100015", "symptoms_en_list": [ "Abnormal retinal pigmentation | Anemia | Autosomal recessive inheritance | Growth delay | Hypertension | Hyposthenuria | Nephronophthisis | Polydipsia | Polyuria | Renal corticomedullary cysts | Renal insufficiency | Renal tubular atrophy | Stage 5 chronic kidney disease | Tubular basement membrane disintegration | Tubulointerstitial fibrosis" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | ネフロン癆 | 低張尿 | 多尿 | 多飲 | 尿細管基底膜の崩壊 | 尿細管萎縮 | 尿細管間質 線維症 | 常染色体潜性遺伝 | 成長遅滞 | 網膜色素異常 | 腎不全 | 腎皮質髄質嚢胞 | 貧血 | 高血圧" ] }, { "id": "NANDO:1200606", "label_en": "Sturge-Weber syndrome", "label_ja": "スタージ・ウェーバー症候群", "yomigana": "すたーじ・うぇーばーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200606", "notificationNumber": "157", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Abnormal choroid morphology | Abnormal retinal vascular morphology | Abnormality of vision | Arachnoid hemangiomatosis | Attention deficit hyperactivity disorder | Atypical behavior | Autistic behavior | Blindness | Buphthalmos | Capillary hemangioma | Central hypothyroidism | Cerebral calcification | Cerebral cortical atrophy | Chiari malformation | Choroidal hemangioma | Conjunctival telangiectasia | Corneal dystrophy | Delayed speech and language development | Dental malocclusion | Dysphagia | Epiphora | Facial capillary hemangioma | Facial hemangioma | Gingival overgrowth | Glaucoma | Headache | Hearing abnormality | Hemianopia | Heterochromia iridis | Hydrocephalus | Hyperostosis | Hyperreflexia | Infantile spasms | Intellectual disability | Iris coloboma | Lens luxation | Macrocephaly | Neurodevelopmental delay | Ocular pain | Optic atrophy | Pulmonary embolism | Retinal detachment | Seizure | Sleep disturbance | Sporadic | Strabismus | Stroke | Venous thrombosis | Visceral angiomatosis | Visual field defect | Visual loss" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | くも膜血管腫症 | コロボーマ | 不正咬合 | 中枢性甲状腺機能低下症 | 乳児スパスム | 内臓血管腫症 | 半盲 | 卒中 | 反射亢進 | 嚥下障害 | 大脳皮質萎縮 | 大脳石灰化 | 大脳血管の異常 | 大頭 | 孤発性 | 斜視 | 歯肉過成長 | 毛細血管血管腫 | 水晶体脱臼 | 水頭症 | 注意力欠陥多動性疾患 | 流涙の増加 | 牛眼 | 発作 | 発語および言語発達遅延 | 盲 | 眼痛 | 睡眠障害 | 知的障害 | 神経発生遅延 | 結膜毛細血管拡張 | 網膜剥離 | 網膜血管の異常 | 緑内障 | 聴覚異常 | 肺塞栓症 | 脈絡膜の異常 | 脈絡膜血管腫症 | 自閉性行動 | 虹彩異色症 | 行動異常 | 視力喪失 | 視神経萎縮 | 視覚の異常 | 視野障害 | 角膜ジストロフィー | 静脈血栓症 | 頭痛 | 顔面毛細血管腫 | 顔面血管腫 | 骨化過剰" ] }, { "id": "NANDO:1200631", "label_en": "Benign familial pemphigus", "label_ja": "家族性良性慢性天疱瘡", "yomigana": "かぞくせいりょうせいまんせいてんぽうそう", "url": "http://nanbyodata.jp/ontology/NANDO_1200631", "notificationNumber": "161", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Acantholysis | Autosomal dominant inheritance | Erythema | Hyperkeratosis | Skin erosion | Skin vesicle" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 有棘細胞解離 | 皮膚びらん | 皮膚小水疱 | 紅斑 | 過角化症" ] }, { "id": "NANDO:1200238", "label_en": "Recessive dystrophic epidermolysis bullosa", "label_ja": "劣性栄養障害型表皮水疱症", "yomigana": "れっせいえいようしょうがいがたひょうひすいほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200238", "notificationNumber": "36", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal esophagus morphology | Abnormal respiratory system morphology | Abnormal scalp morphology | Abnormality of the eye | Abnormality of the urinary system | Abnormality of vitamin metabolism | Alopecia | Anal fissure | Anemia | Ankyloglossia | Anonychia | Anxiety | Aplasia cutis congenita | Atrophic scars | Autosomal recessive inheritance | Basal cell carcinoma | Carious teeth | Cataract | Chronic kidney disease | Chronic pain | Congenital onset | Conjunctivitis | Constipation | Corneal erosion | Corneal scarring | Cutaneous melanoma | Decreased circulating vitamin D concentration | Decreased plasma total carnitine | Delayed puberty | Depression | Dilated cardiomyopathy | Dysphagia | Enamel hypoplasia | Esophageal stricture | Esophageal ulceration | Flexion contracture | Foot joint contracture | Fragile skin | Gastroesophageal reflux | Gastrointestinal inflammation | Generalized abnormality of skin | Glomerulonephritis | Growth delay | IgA deposition in the glomerulus | Infantile onset | Iron deficiency anemia | Malnutrition | Milia | Mitten deformity | Nail dysplasia | Nail dystrophy | Narrow mouth | Oral mucosal blisters | Osteopenia | Osteoporosis | Palmoplantar keratoderma | Recurrent skin infections | Renal amyloidosis | Renal insufficiency | Spontaneous esophageal perforation | Squamous cell carcinoma | Urethral stricture | Urinary bladder sphincter dysfunction | Visual loss" ], "symptoms_ja_list": [ "IgA 沈着 (糸球体) | うつ | ビタミンD欠乏症 | ビタミン代謝の異常 | ミトン変形 | 不安 | 便秘 | 先天性皮膚無形成 | 全身性皮膚異常 | 反復性皮膚感染症 | 口腔粘膜水泡 | 呼吸器運動性繊毛の異常 | 嚥下障害 | 基底細胞癌 | 尿路異常 | 尿道胸抱く | 屈曲拘縮 | 常染色体潜性遺伝 | 思春期遅発 | 慢性疼痛 | 慢性腎疾患 | 成長遅滞 | 拡張型心筋症 | 掌蹠角皮症 | 栄養失調 | 歯エナメル質低形成 | 無爪症 | 爪ジストロフィー | 爪異形成 | 狭い口 | 異常な皮膚水泡 | 白内障 | 皮膚黒色腫 | 眼の異常 | 禿頭 | 稗粒腫 | 糸球体腎炎 | 結膜炎 | 肛門裂 | 胃腸炎症 | 胃食道逆流 | 脆い皮膚 | 腎アミロイド症 | 腎不全 | 膀胱括約筋機能障害 | 自然食道穿孔 | 舌癒着 | 萎縮性瘢痕 | 血漿総カルニチン減少 | 視力喪失 | 角膜びらん | 角膜瘢痕 | 貧血 | 足関節の拘縮 | 鉄欠乏症貧血 | 頭皮の異常 | 食道の異常 | 食道潰瘍 | 食道胸抱く | 骨減少症 | 骨粗鬆症 | 齲歯" ] }, { "id": "NANDO:1200364", "label_en": "Inherited deficiency of complement system", "label_ja": "先天性補体欠損症", "yomigana": "せんてんせいほたいけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200364", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200483", "label_en": "Citrin deficiency", "label_ja": "シトリン欠損症", "yomigana": "しとりんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200483", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200616", "label_en": "Sideroblastic anemia", "label_ja": "鉄芽球性貧血", "yomigana": "てつがきゅうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200616", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100179", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100029", "label_en": "Chronic respiratory disease", "label_ja": "慢性呼吸器疾患", "yomigana": "まんせいこきゅうきしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100029", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200834", "label_en": "Canavan disease", "label_ja": "カナバン病", "yomigana": "かなばんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200834", "notificationNumber": "3", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormal retinal pigmentation | Abnormality of visual evoked potentials | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Blindness | Brain atrophy | CNS demyelination | Cognitive impairment | Delayed closure of the anterior fontanelle | Developmental regression | EEG abnormality | Epileptic spasm | Feeding difficulties in infancy | Flexion contracture | Gastroesophageal reflux | Global developmental delay | Hearing impairment | Hypertonia | Hypotonia | Hypsarrhythmia | Infantile onset | Macrocephaly | Microcephaly | Multifocal epileptiform discharges | Nystagmus | Opisthotonus | Optic atrophy | Reduced consciousness | Seizure | Visual impairment" ], "symptoms_ja_list": [ "てんかん性スパスム | ヒプスアリスミア | 中枢神経脱髄 | 全般性発達遅滞 | 全身性間代性強直性発作 | 多焦点性てんかん型放電 | 大泉門閉鎖遅延 | 大頭 | 小頭 | 屈曲拘縮 | 常染色体潜性遺伝 | 後弓反張 | 意識減少/混乱 | 発作 | 発達退行 | 盲 | 眼振 | 筋緊張亢進 | 筋緊張低下 | 網膜色素異常 | 胃食道逆流 | 脳波異常 | 脳萎縮 | 視力障害 | 視神経萎縮 | 視覚誘発電位の異常 | 認知障害 | 錐体路運動機能の異常 | 難聴 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:2200077", "label_en": "Malignant melanoma", "label_ja": "悪性黒色腫", "yomigana": "あくせいこくしょくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200077", "notificationNumber": "2", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200140", "label_en": "Childhood-onset Pompe disease", "label_ja": "小児型ポンペ病", "yomigana": "しょうにがたぽんぺびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200140", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100055", "label_en": "Arrhythmogenic right ventricular cardiomyopathy or dysplasia", "label_ja": "不整脈源性右室心筋症", "yomigana": "ふせいみゃくげんせいうしつしんきんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100055", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200970", "label_en": "Carnitine palmitoyltransferase I deficiency", "label_ja": "カルニチンパルミトイルトランスフェラーゼI欠損症", "yomigana": "かるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200970", "notificationNumber": "316", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal speech pattern | Abnormality of metabolism/homeostasis | Arrhythmia | Atypical behavior | Autosomal recessive inheritance | Cardiomegaly | Childhood onset | Coma | Diarrhea | Dicarboxylic aciduria | Diminished deep tendon reflex | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Fatigue | Feeding difficulties | Generalized hypotonia | Hemiplegia/hemiparesis | Hepatic failure | Hepatic steatosis | Hepatomegaly | Hyperammonemia | Hypertrophic cardiomyopathy | Hypoglycemia | Hypoketotic hypoglycemia | Hyporeflexia | Hypotonia | Ketonuria | Lethargy | Loss of consciousness | Motor delay | Muscle weakness | Pregnancy history | Recurrent encephalopathy | Renal tubular acidosis | Seizure | Skeletal muscle atrophy | Sudden cardiac death | Transient hyperlipidemia" ], "symptoms_ja_list": [ "ケトン尿 | ジカルボン酸尿 | 一過性高脂血症 | 下痢 | 不整脈 | 代謝/ホメオスターシスの異常 | 低ケトン性低血糖 | 低血糖 | 全身性筋緊張低下 | 出生前の母体異常 | 反射低下 | 反復性脳症 | 常染色体潜性遺伝 | 心拡大 | 意識喪失 | 昏睡 | 無気力 | 片麻痺/片側不全麻痺 | 疲労 | 発作 | 神経学的発語障害 | 突然心臓死 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝腫 | 肥大型心筋症 | 脂肪肝 | 腎尿細管アシドーシス | 腱反射減少 | 血清 creatine phosphokinase上昇 | 行動異常 | 運動発達遅滞 | 食餌摂取障害 | 高アンモニア血症" ] }, { "id": "NANDO:2200617", "label_en": "Congenital atransferrinemia", "label_ja": "無トランスフェリン血症", "yomigana": "むとらんすふぇりんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200617", "notificationNumber": "50", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100180", "symptoms_en_list": [ "Abnormality of the cardiovascular system | Abnormality of the liver | Abnormality of the pancreas | Anemia | Arthritis | Atransferrinemia | Autosomal recessive inheritance | Congestive heart failure | Hypochromic anemia | Hypothyroidism | Recurrent infections" ], "symptoms_ja_list": [ "うっ血性心不全 | 低色素性貧血 | 反復性感染症 | 常染色体潜性遺伝 | 心血管系 | 無トランスフェリン血症 | 甲状腺機能低下症 | 肝の異常 | 膵の異常 | 貧血 | 関節炎" ] }, { "id": "NANDO:2200137", "label_en": "Chronic pyelonephritis", "label_ja": "慢性腎盂腎炎", "yomigana": "まんせいじんうじんえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200137", "notificationNumber": "47", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100012", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200156", "label_en": "Renal aplasia", "label_ja": "腎無形成", "yomigana": "じんむけいせい", "url": "http://nanbyodata.jp/ontology/NANDO_2200156", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Absent vas deferens | Anal atresia | Aplasia/Hypoplasia of the bladder | Aplasia/hypoplasia of the uterus | Bilateral renal agenesis | Hypertension | Oligohydramnios | Potter facies | Proteinuria | Pulmonary hypoplasia | Renal agenesis | Renal insufficiency | Talipes equinovarus | Unilateral renal agenesis | Ureteral agenesis | Ventricular septal defect" ], "symptoms_ja_list": [ "Potter 顔貌 | 両側性腎無発生 | 内反尖足 | 子宮無形成/低形成 | 尿管無発生 | 心室中隔欠損 | 片側性腎無発生 | 羊水過少 | 肺低形成 | 腎不全 | 腎無発生 | 膀胱無形成/低形成 | 蛋白尿 | 輸精管欠損 | 鎖肛 | 高血圧" ] }, { "id": "NANDO:2100078", "label_en": "Complete transposition of the great arteries", "label_ja": "完全大血管転位症", "yomigana": "かんぜんだいけっかんてんいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100078", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200453", "label_en": "Majeed syndrome", "label_ja": "Majeed症候群", "yomigana": "まじぃーどしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200453", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abnormal bone marrow cell morphology | Abnormal inflammatory response | Acne | Anemia of inadequate production | Arthralgia | Autosomal recessive inheritance | Bone pain | Cachexia | Congenital hypoplastic anemia | Cough | Delayed puberty | Delayed skeletal maturation | Edema | Elevated erythrocyte sedimentation rate | Erythroid hyperplasia | Failure to thrive | Fever | Flexion contracture | Glomerulopathy | Growth delay | Headache | Hepatomegaly | Hepatosplenomegaly | Hypochromic microcytic anemia | Increased bone mineral density | Increased susceptibility to fractures | Increased total leukocyte count | Inflammatory abnormality of the skin | Joint swelling | Malabsorption | Metaphyseal irregularity | Microcytic anemia | Microscopic hematuria | Myalgia | Osteomyelitis | Papule | Proteinuria | Pulmonary infiltrates | Pustule | Recurrent fever | Skin rash | Splenomegaly | Synovitis | Weight loss" ], "symptoms_ja_list": [ "?瘡 | 不適切な産生貧血 | 丘疹 | 低色素性小球性貧血 | 体重喪失 | 先天性再生不良性貧血 | 吸収障害 | 外層 | 小球性貧血 | 屈曲拘縮 | 常染色体潜性遺伝 | 思春期遅発 | 悪液質 (カヘキシー) | 成長遅滞 | 成長障害 (成長不全) | 易骨折性の増加 | 浮腫 | 滑膜炎 | 異常な炎症反応 | 発熱 | 発熱エピソード | 白血球増多症 | 皮膚の炎症性異常 | 皮膚発疹 | 筋痛 | 糸球体症 | 肝脾腫 | 肝腫 | 肺浸潤 | 脾腫 | 膿疱 | 蛋白尿 | 赤沈値上昇 | 赤芽球系過形成 | 関節痛 | 関節腫脹 | 頭痛 | 顕微血尿 | 骨ミネラル濃度の増加 | 骨幹端不規則性 | 骨格骨化遅延 | 骨痛 | 骨髄炎 | 骨髄細胞形態の異常" ] }, { "id": "NANDO:1200823", "label_en": "Muscle glycogen storage disease", "label_ja": "筋型糖原病", "yomigana": "きんがたとうげんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200823", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Anemia | Autosomal recessive inheritance | Childhood onset | Cholelithiasis | Easy fatigability | Elevated circulating aldolase concentration | Elevated circulating creatine kinase activity | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced muscle fatigue | Exercise-induced muscle stiffness | Exercise-induced myalgia | Exercise-induced myoglobinuria | Gout | Hematuria | Hemolytic anemia | Hyperuricemia | Increased muscle glycogen content | Increased total bilirubin | Increased variability in muscle fiber diameter | Jaundice | Juvenile onset | Muscle weakness | Myalgia | Myotonia | Reticulocytosis | Skeletal muscle atrophy" ], "symptoms_ja_list": [ "アルドラーゼ値上昇 | ミオトニア | 常染色体潜性遺伝 | 易疲労性 | 溶血性貧血 | 筋グリコーゲン量増加 | 筋痛 | 筋線維直径の多様性増加 | 筋萎縮 | 筋虚弱 | 網状赤血球増多症 | 総ビリルビン増加 | 胆石症 | 血尿 | 血清 creatine phosphokinase上昇 | 貧血 | 通風 | 運動不耐症 | 運動誘発性ミオグロビン尿 | 運動誘発性筋けいれん | 運動誘発性筋疲労 | 運動誘発性筋痛 | 運動誘発性筋硬直 | 高尿酸血症 | 黄疸" ] }, { "id": "NANDO:2201434", "label_en": "Transient neonatal diabetes mellitus", "label_ja": "一過性新生児糖尿病", "yomigana": "いっかせいしんせいじとうにょうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201434", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200505", "label_en": "Atopic myelitis", "label_ja": "アトピー性脊髄炎", "yomigana": "あとぴーせいせきずいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200505", "notificationNumber": "116", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100143", "label_en": "Hyperinsulinemic hypoglycemia", "label_ja": "高インスリン血性低血糖症", "yomigana": "こういんすりんけっせいていけっとうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100143", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200992", "label_en": "3-methylglutaconic aciduria type III", "label_ja": "メチルグルタコン酸尿症III型", "yomigana": "めちるぐるたこんさんにょうしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200992", "notificationNumber": "324", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "3-Methylglutaconic aciduria | 3-Methylglutaric aciduria | Abnormality of extrapyramidal motor function | Ataxia | Autosomal recessive inheritance | Babinski sign | Chorea | Choreoathetosis | Cognitive impairment | Dysarthria | Gait disturbance | Hyperreflexia | Intellectual disability | Nystagmus | Optic atrophy | Reduced visual acuity | Spastic paraparesis | Spasticity | Visual impairment" ], "symptoms_ja_list": [ "3-メチルグルタコン酸尿症 | 3-メチルグルタル酸尿症 | Babinski サイン | 中心視力減少 | 反射亢進 | 常染色体潜性遺伝 | 構音障害 | 歩行障害 | 痙性 | 痙性対不全麻痺 | 眼振 | 知的障害 | 舞踏病 | 舞踏病アテトーゼ | 視力障害 | 視神経萎縮 | 認知障害 | 運動失調 | 錐体外路運動機能の異常" ] }, { "id": "NANDO:2200630", "label_en": "Hereditary elliptocytosis", "label_ja": "遺伝性楕円赤血球症", "yomigana": "いでんせいだえんせっけっきゅうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200630", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100183", "symptoms_en_list": [ "Abdominal pain | Abnormal erythrocyte morphology | Cholelithiasis | Congenital hemolytic anemia | Elliptocytosis | Exercise intolerance | Fatigue | Fever | Frontal bossing | Hemolytic anemia | Hydrops fetalis | Hyperbilirubinemia | Increased red cell osmotic fragility | Jaundice | Neonatal hyperbilirubinemia | Poikilocytosis | Postnatal growth retardation | Prolonged neonatal jaundice | Reticulocytosis | Skin ulcer | Splenomegaly | Stomatocytosis" ], "symptoms_ja_list": [ "ストマトサイト増多症 | 先天性溶血性貧血 | 前頭突出", "額突出 | 新生児高ビリルビン血症 | 楕円赤血球症 | 溶血性貧血 | 生後の成長遅滞 | 異型赤血球増加症 | 疲労 | 発熱 | 皮膚潰瘍 | 網状赤血球増多症 | 胆石症 | 胎児水腫 | 脾腫 | 腹痛 | 赤血球の異常 | 赤血球浸透圧脆弱性の増加 | 運動不耐症 | 遷延性新生児黄疸 | 高ビリルビン血症 | 黄疸" ] }, { "id": "NANDO:2200826", "label_en": "Tuberous sclerosis complex", "label_ja": "結節性硬化症", "yomigana": "けっせつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200826", "notificationNumber": "26", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100220", "symptoms_en_list": [ "Abnormal social behavior | Abnormality of the kidney | Aggressive behavior | Angiofibromas | Anxiety | Aortic aneurysm | Attention deficit hyperactivity disorder | Atypical behavior | Autism | Autistic behavior | Carcinoid tumor | Cardiac rhabdomyoma | Chronic kidney disease | Confetti-like hypopigmented macules | Cortical dysplasia | Cortical tubers | Depression | Epidermoid cyst | Epileptic spasm | Focal-onset seizure | Generalized abnormality of skin | Hemoptysis | Hepatic cysts | Hyperactivity | Hypertension | Hypomelanotic macule | Impulsivity | Infantile spasms | Intellectual disability | Internal hemorrhage | Neurodevelopmental delay | Noncommunicating hydrocephalus | Parathyroid adenoma | Parathyroid hyperplasia | Pheochromocytoma | Pituitary adenoma | Polycystic kidney dysplasia | Poor speech | Pulmonary lymphangiomyomatosis | Renal angiomyolipoma | Renal cell carcinoma | Renal cyst | Renal insufficiency | Repetitive compulsive behavior | Respiratory distress | Respiratory failure | Respiratory tract infection | Retinal astrocytic hamartoma | Retinal hamartoma | Seizure | Self-injurious behavior | Shagreen patch | Skin plaque | Sleep disturbance | Specific learning disability | Stage 5 chronic kidney disease | Status epilepticus | Subependymal giant-cell astrocytoma | Subependymal nodules | Ungual fibroma" ], "symptoms_ja_list": [ "Confetti 様低色素斑 | うつ | てんかん性スパスム | てんかん重積 | カルチノイド | ステージ5慢性腎疾患 | メラニン減少性斑 | 上衣下巨細胞星状細胞腫 | 上衣下結節 | 下垂体腺腫 | 不安 | 乳児スパスム | 全身性皮膚異常 | 内出血 | 副甲状腺腺腫 | 副甲状腺過形成 | 反復性強迫行動 | 呼吸不全 | 呼吸器感染 | 呼吸窮迫 | 喀血 | 多動 | 多嚢胞性腎異形成 | 大動脈瘤 | 心平滑筋腫 | 慢性腎疾患 | 攻撃的行動 | 注意力欠陥多動性疾患 | 焦点性発作 | 爪線維腫 線維腫 | 特異的学習障害 | 異常な社会的行動 | 発作 | 発語不全 | 皮膚局面 | 皮質異形成 | 皮質結節 | 睡眠障害 | 知的障害 | 神経発生遅延 | 粒起革(なめし革)様斑 | 網膜星状細胞過誤腫 | 網膜過誤腫 | 肝膿瘍 | 肺リンパ管筋腫症 | 腎不全 | 腎嚢胞 | 腎異常 | 腎細胞癌 | 腎血管筋脂肪腫 | 自傷行動 | 自閉性行動 | 自閉症 | 血管線維腫 | 行動異常 | 衝動性 | 褐色細胞腫 | 非交通性水頭症 | 類表皮嚢胞 | 高血圧" ] }, { "id": "NANDO:2200743", "label_en": "PKC-δ deficiency", "label_ja": "PRKCδ欠損症", "yomigana": "ぴーあーるけーしーでるたけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200743", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201366", "label_en": "Craniometaphyseal dysplasia", "label_ja": "頭蓋骨幹端異形成症", "yomigana": "ずがいこっかんたんいけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201366", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal cranial nerve morphology | Abnormal metaphysis morphology | Conductive hearing impairment | Craniofacial hyperostosis | Depressed nasal bridge | Facial palsy | Hypertelorism | Osteopetrosis | Sensorineural hearing impairment | Skeletal dysplasia | Telecanthus | Visual impairment | Wide nasal bridge" ], "symptoms_ja_list": [ "両眼隔離 | 伝音難聴 | 内眼角外方偏位 | 大理石骨症 | 幅広い鼻梁 | 感音難聴 | 脳神経の異常 | 落ちくぼんだ鼻梁 | 視力障害 | 頭蓋顔面過骨症 | 顔面麻痺 | 骨幹端の異常 | 骨格異形成" ] }, { "id": "NANDO:2201340", "label_en": "Pfeiffer syndrome (squamosal synostosis)", "label_ja": "ファイファー症候群（鱗状縫合）", "yomigana": "ふぁいふぁーしょうこうぐん（りんじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201340", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200855", "label_en": "Primary hyperchylomicronemia", "label_ja": "原発性高カイロミクロン血症", "yomigana": "げんぱつせいこうかいろみくろんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200855", "notificationNumber": "262", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200093", "label_en": "Type 7 Farber disease", "label_ja": "ファーバー病（プロサポシン欠損型）", "yomigana": "ふぁーばーびょう（ぷろさぽしんけっそんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200093", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201140", "label_en": "Extrahepatic primary sclerosing cholangitis", "label_ja": "肝外型原発性硬化性胆管炎", "yomigana": "かんがいがたげんぱつせいこうかせいたんかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201140", "notificationNumber": "94", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200923", "label_en": "IgG4-related disease", "label_ja": "IgG4関連疾患", "yomigana": "あいじーじー4かんれんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200923", "notificationNumber": "300", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abnormality of complement system | Abnormality of the orbital region | Antinuclear antibody positivity | Crohn's disease | Cryoglobulinemia | Decreased circulating complement C3 concentration | Decreased total leukocyte count | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Fever | Hashimoto thyroiditis | Increased circulating IgE concentration | Increased circulating IgG concentration | Increased total eosinophil count | Pancreatitis | Retroperitoneal fibrosis | Rheumatoid factor positive | Splenomegaly | Thrombocytopenia" ], "symptoms_ja_list": [ "CRP 上昇 | Crohn 病 | IgE 値増加 | IgG 値増加 | リウマチ因子陽性 | リオグロブリン血症 | 好酸球増多症 | 後腹膜線維症 | 抗核抗体陽性 | 橋本甲状腺炎 | 発熱 | 白血球減少症 | 眼窩領域の異常 | 脾腫 | 膵炎 | 血小板減少 | 血清補体 C3減少 | 補体系の異常 | 赤沈値上昇" ] }, { "id": "NANDO:2100198", "label_en": "Protein S deficiency", "label_ja": "先天性プロテインS欠乏症", "yomigana": "せんてんせいぷろていんえすけつぼうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100198", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100175", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200161", "label_en": "Cystinosis", "label_ja": "シスチン症", "yomigana": "しすちんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200161", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormality of endocrine pancreas physiology | Aciduria | Aminoaciduria | Aphasia | Azoospermia | Band keratopathy | Constipation | Corneal opacity | Cranial nerve paralysis | Decreased circulating carnitine concentration | Dehydration | Delayed puberty | EMG: myopathic abnormalities | Elevated circulating alkaline phosphatase concentration | Exocrine pancreatic insufficiency | Failure to thrive | Fatigue | Feeding difficulties | Fever | Gait disturbance | Glucose intolerance | Glycosuria | Growth delay | Hepatomegaly | Hyperphosphaturia | Hypocalcemia | Hypogonadism | Hypokalemia | Hyponatremia | Hypophosphatemia | Hypothyroidism | Hypotonia | Kidney stone | Malabsorption | Metabolic acidosis | Mild intellectual disability | Muscle weakness | Myopathy | Nephrocalcinosis | Nephrogenic diabetes insipidus | Nephropathy | Osteomalacia | Photophobia | Polydipsia | Portal hypertension | Proteinuria | Renal Fanconi syndrome | Renal insufficiency | Renal tubular dysfunction | Retinopathy | Rickets | Short stature | Splenomegaly | Type I diabetes mellitus | Visual impairment | Vomiting" ], "symptoms_ja_list": [ "I 型糖尿病 | くる病 | アミノ酸尿 | アルカリホスファターゼ上昇 | ミオパチー | 代謝性アシドーシス | 低カリウム血症 | 低カルシウム血症 | 低ナトリウム血症 | 低リン血症 | 低身長 | 便秘 | 内分泌膵生理の異常 | 吸収障害 | 嘔吐 | 外分泌性膵不全 | 多飲 | 失語症 | 尿糖 | 帯状角膜症 | 思春期遅発 | 性腺機能低下症 | 成長遅滞 | 成長障害 (成長不全) | 歩行障害 | 無精子症 | 甲状腺機能低下症 | 疲労 | 発熱 | 知的障害", "軽度 | 筋緊張低下 | 筋虚弱 | 筋電図: ミオパチー異常 | 網膜症 | 羞明 | 耐糖能異常 | 肝腫 | 脱水 | 脳神経麻痺 | 脾腫 | 腎不全 | 腎尿細管機能障害 | 腎性 Fanconi 症候群 | 腎源性尿崩症 | 腎症 | 腎石灰化症 | 腎結石 | 蛋白尿 | 血漿カルニチン減少 | 視力障害 | 角膜混濁 | 酸性尿 | 門脈圧亢進 | 食餌摂取障害 | 骨軟化症 | 高リン尿" ] }, { "id": "NANDO:2200403", "label_en": "Primary hypophosphatemic rickets", "label_ja": "原発性低リン血症性くる病", "yomigana": "げんぱつせいていりんけっしょうせいくるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200403", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100146", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200100", "label_en": "Sanfilippo disease", "label_ja": "サンフィリッポ症候群", "yomigana": "さんふぃりっぽしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200100", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal aortic valve morphology | Abnormal clavicle morphology | Abnormal facial shape | Abnormal mitral valve morphology | Abnormal myocardium morphology | Abnormal pyramidal sign | Abnormal rib morphology | Abnormal skeletal morphology | Abnormal vertebral body morphology | Abnormality of the dentition | Abnormality of the middle ear ossicles | Aggressive behavior | Aspiration pneumonia | Ataxia | Atrioventricular block | Atypical behavior | Avascular necrosis of the capital femoral epiphysis | Blindness | Cardiomegaly | Cataract | Central nervous system degeneration | Chronic otitis media | Coarse facial features | Coarse hair | Conductive hearing impairment | Constipation | Constriction of peripheral visual field | Constrictive median neuropathy | Corneal opacity | Craniofacial hyperostosis | Decreased circulating vitamin D concentration | Delayed speech and language development | Dementia | Developmental regression | Disinhibition | Dolichocephaly | Dysarthria | Dysostosis multiplex | Dysphagia | Flexion contracture | Gait disturbance | Generalized hirsutism | Genu valgum | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hip dysplasia | Hirsutism | Hydrocephalus | Hyperactive deep tendon reflexes | Hyperactivity | Hyperorality | Hypertonia | Increased susceptibility to fractures | Inguinal hernia | Intellectual disability | Intermittent diarrhea | Joint stiffness | Loss of ambulation | Macrocephaly | Macroglossia | Malabsorption | Mixed hearing impairment | Motor delay | Mucopolysacchariduria | Myopia | Nyctalopia | Obstructive sleep apnea | Opacification of the corneal stroma | Optic atrophy | Otitis media | Pigmentary retinopathy | Progressive neurologic deterioration | Protuberant abdomen | Recurrent sinopulmonary infections | Recurrent tonsillitis | Reduced bone mineral density | Reduced left ventricular ejection fraction | Respiratory tract infection | Retinal degeneration | Rod-cone dystrophy | Scoliosis | Seizure | Sensorineural hearing impairment | Severe intellectual disability | Sleep disturbance | Spasticity | Specific learning disability | Splenomegaly | Synophrys | Thick hair | Thick nasal alae | Thick vermilion border | Thickened helices | Umbilical hernia | Upper airway obstruction | Urinary glycosaminoglycan excretion | Ventriculomegaly | Vocal cord paresis" ], "symptoms_ja_list": [ "Dementia | ビタミンD欠乏症 | ムコ多糖症 | 上気道閉塞 | 中枢神経変性 | 中耳炎 | 中耳耳小骨の異常 | 伝音難聴 | 便秘 | 側弯 | 僧帽弁の異常 | 全身性多毛 | 分厚い唇紅部縁 | 分厚い毛髪 | 分厚い耳輪 | 分厚い鼻翼 | 反復性副鼻腔肺感染症 | 収縮性正中神経ニューロパチー | 口愛過度 | 吸収障害 | 呼吸器感染 | 嚥下障害 | 声帯不全麻痺 | 外反膝 | 多動 | 多毛 | 多発性異骨症 | 夜盲症 | 大動脈弁の異常 | 大腿骨骨頭骨端の無血管性壊死 | 大頭 | 尿中グリコサミノグリカン排泄 | 尿中硫酸ヘパラン排泄 | 屈曲拘縮 | 巨舌 | 心拡大 | 心筋の異常 | 感音難聴 | 慢性中耳炎 | 房室ブロック | 扁桃炎 | 攻撃的行動 | 易骨折性の増加 | 椎体骨形態異常 | 構音障害 | 歩行障害 | 歯の異常 | 水頭症 | 深部腱反射亢進 | 混合性難聴 | 特異的学習障害 | 異常な顔の形 | 痙性 | 発作 | 発語および言語発達遅延 | 発達退行 | 白内障 | 盲 | 睡眠障害 | 知的障害 | 知的障害", "重度 | 筋緊張亢進 | 粗い毛髪 | 粗な顔貌 | 網膜変性 | 肋骨の異常 | 肝腫 | 股関節異形成 | 脱抑制 | 脳室拡大 | 脾腫 | 腹部突出 | 臍ヘルニア | 色素性網膜炎 | 色素性網膜症 | 行動異常 | 視神経萎縮 | 視野狭窄 | 角膜混濁 | 角膜間質混濁形成 | 誤嚥性肺炎 | 近視 | 連続眉毛 | 進行性歩行不安定 | 進行性神経学的悪化 | 運動失調 | 運動発達遅滞 | 錐体路運動機能の異常 | 鎖骨の異常 | 長頭 | 閉塞性睡眠時無呼吸 | 間歇的下痢 | 関節拘縮 | 難聴 | 頭蓋顔面過骨症 | 駆出分画減少 | 骨ミネラル濃度減少 | 骨格形態の異常 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200973", "label_en": "Systemic primary carnitine deficiency", "label_ja": "カルニチントランスポーター欠損症", "yomigana": "かるにちんとらんすぽーたーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200973", "notificationNumber": "316", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Acute encephalopathy | Autosomal recessive inheritance | Bilateral tonic-clonic seizure with focal onset | Cardiomegaly | Cardiomyopathy | Childhood onset | Clumsiness | Coma | Confusion | Congestive heart failure | Decreased circulating carnitine concentration | Dehydration | Diarrhea | Dicarboxylic aciduria | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Encephalopathy | Endocardial fibroelastosis | Excessive daytime somnolence | Failure to thrive | Generalized hypotonia | Global developmental delay | Hepatomegaly | Hyperammonemia | Hypertrophic cardiomyopathy | Hypotonia | Impaired gluconeogenesis | Ketosis | Lethargy | Microvesicular hepatic steatosis | Mitral regurgitation | Muscle weakness | Myopathy | Neck muscle weakness | Proximal muscle weakness | Recurrent hypoglycemia | Respiratory distress | Vomiting" ], "symptoms_ja_list": [ "うっ血性心不全 | ケトン症 | ジカルボン酸尿 | ミオパチー | 下痢 | 不器用 | 両側性けいれん発作 | 僧帽弁逆流 | 全般性発達遅滞 | 全身性筋緊張低下 | 反復性低血糖 | 呼吸窮迫 | 嗜眠 | 嘔吐 | 小血管脂肪肝 | 常染色体潜性遺伝 | 心内膜線維弾性症 | 心拡大 | 心筋症 | 急性脳症 | 成長障害 (成長不全) | 昏睡 | 無気力 | 筋緊張低下 | 筋虚弱 | 糖新生障害 | 肝トランスアミナーゼ上昇 | 肝腫 | 肥大型心筋症 | 脱水 | 脳症 | 血清 creatine phosphokinase上昇 | 血漿カルニチン減少 | 近位筋虚弱 | 錯乱 | 頸部筋虚弱 | 高アンモニア血症" ] }, { "id": "NANDO:2200980", "label_en": "Moebius syndrome", "label_ja": "メビウス症候群", "yomigana": "めびうすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200980", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [ "Abducens palsy | Abnormal nail morphology | Abnormal nasopharynx morphology | Abnormal pelvic girdle bone morphology | Abnormal pinna morphology | Abnormal posterior cranial fossa morphology | Abnormality of the dentition | Abnormality of the sense of smell | Abnormality of the voice | Absent hand | Aplasia of the pectoralis major muscle | Aplasia/Hypoplasia involving the metacarpal bones | Aplasia/Hypoplasia of the radius | Aplasia/Hypoplasia of the thumb | Aplasia/Hypoplasia of the tongue | Arthrogryposis multiplex congenita | Autism | Autosomal dominant inheritance | Bifid uvula | Blepharitis | Brachydactyly | Breast aplasia | Camptodactyly | Cleft palate | Clinodactyly of the 5th finger | Clumsiness | Congenital fibrosis of extraocular muscles | Corneal opacity | Cranial nerve paralysis | Death in infancy | Decreased testicular size | Delayed speech and language development | Depressed nasal bridge | Dysarthria | Dysdiadochokinesis | Dysphagia | Epicanthus | Esotropia | Everted lower lip vermilion | Exotropia | Facial diplegia | Facial palsy | Feeding difficulties in infancy | Finger syndactyly | Floppy infant | Gait disturbance | Hand clenching | Hearing impairment | High palate | Hypertelorism | Hypogonadotropic hypogonadism | Hypoplasia of the brainstem | Hypotonia | Incoordination | Lower limb undergrowth | Mask-like facies | Microdontia | Micrognathia | Micropenis | Microphthalmia | Mild intellectual disability | Motor delay | Multiple cafe-au-lait spots | Open mouth | Ophthalmoplegia | Peripheral neuropathy | Pes planus | Ptosis | Radial deviation of finger | Respiratory distress | Short neck | Short phalanx of finger | Skeletal muscle atrophy | Split hand | Sporadic | Strabismus | Syndactyly | Talipes equinovarus | Tooth agenesis | Visual impairment" ], "symptoms_ja_list": [ "下口唇唇紅部外反 | 下肢発育不全 | 不器用 | 両眼隔離 | 中手骨無形成/低形成 | 乳児筋性筋緊張低下 | 乳房無形成 | 二分した口蓋垂 | 仮面様顔貌 | 低ゴナドトロピン性性腺機能低下症 | 先天性外眼筋線維症 | 先天性多発性関節拘縮 | 内反尖足 | 内斜視 | 内眼角贅皮 | 協調運動障害 | 口蓋裂 | 合指症 | 合指趾症 | 呼吸窮迫 | 嗅覚の異常 | 嚥下障害 | 声の異常 | 外斜視 | 多発性カフェオーレ斑 | 大胸筋無形成 | 孤発性 | 小歯 | 小眼球 | 小陰茎 | 小顎 | 屈指 | 常染色体顕性遺伝 | 後頭蓋窩の異常 | 扁平足 | 手欠損 | 拮抗運動反復不全 | 指の橈側偏位 | 握り手 | 斜視 | 末梢神経ニューロパチー | 構音障害 | 橈骨無形成/低形成 | 歩行障害 | 歯の異常 | 歯数の減少 number of teeth | 母指無形成/低形成 | 爪の異常 | 発語および言語発達遅延 | 眼瞼下垂 | 眼瞼炎 | 眼筋麻痺 | 知的障害", "軽度 | 短い指骨 | 短い頸部 | 短指症候群 | 第5指弯指 | 第VI脳神経麻痺 | 筋緊張低下 | 筋萎縮 | 精巣サイズ減少 | 耳介の異常 | 脳幹低形成 | 脳神経麻痺 | 自閉症 | 舌の無形成/低形成 | 落ちくぼんだ鼻梁 | 裂手 | 視力障害 | 角膜混濁 | 運動発達遅滞 | 開口 | 難聴 | 顔面両麻痺 | 顔面麻痺 | 食餌摂取障害 in infancy | 骨盤帯骨の形態異常 | 高口蓋 | 鼻咽頭の異常" ] }, { "id": "NANDO:2100127", "label_en": "Cushing (Cushing) syndrome", "label_ja": "クッシング症候群", "yomigana": "くっしんぐしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100127", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201005", "label_en": "Anhidrotic ectodermal dysplasia", "label_ja": "無汗性外胚葉形成不全", "yomigana": "むかんせいがいはいようけいせいふぜん", "url": "http://nanbyodata.jp/ontology/NANDO_2201005", "notificationNumber": "16", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100289", "symptoms_en_list": [ "Abnormal abdominal wall morphology | Abnormal dental morphology | Abnormal facial shape | Abnormal hair quantity | Abnormal nail morphology | Abnormality of immune system physiology | Abnormality of the dentition | Anteverted nares | Aplasia/Hypoplasia of the eyebrow | Breast aplasia | Cognitive impairment | Cough | Dry skin | Eczematoid dermatitis | Failure to thrive | Frontal bossing | Generalized hypopigmentation of hair | Hyperkeratosis | Hypohidrosis | Hypoplasia of the maxilla | Inflammatory abnormality of the eye | Irregular hyperpigmentation | Keratoconjunctivitis sicca | Nephrotic syndrome | Sinusitis | Slow-growing hair | Thick vermilion border | Thin skin | Tooth agenesis | Trichorrhexis nodosa | Xerostomia" ], "symptoms_ja_list": [ "ネフローゼ症候群 | 上向きの鼻孔 | 上顎低形成 | 不規則な高色素 | 乳房無形成 | 乾いた皮膚 | 乾燥性 | 免疫系生理の異常 | 全身性毛髪低色素 | 分厚い唇紅部縁 | 前頭突出", "額突出 | 副鼻腔炎 | 口内乾燥症 | 外層 | 成長の遅い毛髪 | 成長障害 (成長不全) | 歯の異常 | 歯形態異常 | 歯数の減少 number of teeth | 減汗症 | 湿疹 | 爪の異常 | 異常な毛髪量 | 異常な顔の形 | 眉毛の無形成/低形成 | 眼の炎症性異常 | 結節性裂毛症 | 腹壁の異常 | 薄い皮膚 | 認知障害 | 過角化症" ] }, { "id": "NANDO:1200798", "label_en": "Isovaleric acidemia", "label_ja": "イソ吉草酸血症", "yomigana": "いそきっそうさんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200798", "notificationNumber": "247", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal globus pallidus morphology | Acute pancreatitis | Arrhythmia | Attention deficit hyperactivity disorder | Autosomal recessive inheritance | Bone marrow hypocellularity | Cerebellar hemorrhage | Coma | Confusion | Decreased total leukocyte count | Dehydration | Delayed speech and language development | Dysmetria | Failure to thrive | Feeding difficulties in infancy | Global developmental delay | Hyperammonemia | Hyperglycinuria | Hypocalcemia | Hypothermia | Hypotonia | Intellectual disability | Ketoacidosis | Ketonuria | Lactic acidosis | Lethargy | Metabolic acidosis | Motor delay | Pancytopenia | Renal Fanconi syndrome | Seizure | Thrombocytopenia | Tremor | Vomiting | Weight loss" ], "symptoms_ja_list": [ "ケトアシドーシス | ケトン尿 | 不整脈 | 乳酸性アシドーシス | 代謝性アシドーシス | 低カルシウム血症 | 低体温 | 体重喪失 | 全般性発達遅滞 | 嘔吐 | 小脳出血 | 常染色体潜性遺伝 | 急性膵炎 | 成長障害 (成長不全) | 振戦 | 昏睡 | 汎血球減少症 | 注意力欠陥多動性疾患 | 淡蒼球の異常 | 測定障害 | 無気力 | 発作 | 発語および言語発達遅延 | 白血球減少症 | 知的障害 | 筋緊張低下 | 脱水 | 腎性 Fanconi 症候群 | 血小板減少 | 運動発達遅滞 | 錯乱 | 食餌摂取障害 in infancy | 骨髄細胞数増多 | 高アンモニア血症 | 高グリシン尿" ] }, { "id": "NANDO:2201177", "label_en": "Mucopolysaccharidosis type III D", "label_ja": "D型ムコ多糖症III型", "yomigana": "でぃーがたむこたとうしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201177", "notificationNumber": "131", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Absent speech | Achilles tendon contracture | Aggressive behavior | Agitation | Anteverted nares | Asymmetric septal hypertrophy | Autosomal recessive inheritance | Brisk reflexes | Broad alveolar ridges | Broad palm | Cellular metachromasia | Cerebellar atrophy | Childhood onset | Coarse facial features | Coarse hair | Deeply set eye | Delayed speech and language development | Depressed nasal bridge | Diarrhea | Drooling | Dysarthria | Dysostosis multiplex | Dysphagia | Elbow flexion contracture | Epiphyseal dysplasia | Facial hirsutism | Frontal bossing | Gait disturbance | Global developmental delay | Growth abnormality | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hip dysplasia | Hirsutism | Hyperactivity | Hypertelorism | Hypoplastic vertebral bodies | Infantile onset | Inguinal hernia | Intellectual disability | Joint stiffness | Low-set ears | Macrocephaly | Macroglossia | Mitral regurgitation | Nyctalopia | Oppositional defiant disorder | Ovoid thoracolumbar vertebrae | Pes cavus | Pilonidal sinus | Progressive | Prominent forehead | Recurrent otitis media | Recurrent upper respiratory tract infections | Restlessness | Seizure | Short neck | Short stature | Sleep disturbance | Splenomegaly | Synophrys | Thick eyebrow | Thick lower lip vermilion | Thick vermilion border | Thickened ribs | Thoracic scoliosis | Visual impairment | Wide mouth" ], "symptoms_ja_list": [ "アキレス腱拘縮 | 上向きの鼻孔 | 下痢 | 不穏 | 不穏状態 | 両眼隔離 | 低身長 | 僧帽弁逆流 | 全般性発達遅滞 | 凹足 | 分厚い下口唇唇紅部 | 分厚い唇紅部縁 | 分厚い眉毛 | 前頭突出", "額突出 | 卵形胸腰椎 | 反射活発 | 反復性上気道感染症 | 反復性中耳炎 | 嚥下障害 | 多動 | 多毛 | 多発性異骨症 | 夜盲症 | 大頭 | 小脳萎縮 | 尿中硫酸ヘパラン排泄 | 巨舌 | 常染色体潜性遺伝 | 幅広い口 | 幅広い手掌 | 幅広い歯槽隆起 | 成長異常 | 攻撃的行動 | 敵対的反抗疾患 | 椎体骨低形成 | 構音障害 | 歩行障害 | 毛巣洞 | 流涎 | 発作 | 発語および言語発達遅延 | 発語欠損 | 目立つ額 | 睡眠障害 | 知的障害 | 短い頸部 | 粗い毛髪 | 粗な顔貌 | 細胞異染性 | 耳介低位 | 肋骨肥厚 | 肘屈曲拘縮 | 肝腫 | 股関節異形成 | 胸部側弯 | 脾腫 | 落ちくぼんだ眼 | 落ちくぼんだ鼻梁 | 視力障害 | 連続眉毛 | 関節拘縮 | 難聴 | 非対称性中隔肥大 | 顔面多毛 | 骨端異形成 | 鼠径ヘルニア" ] }, { "id": "NANDO:2200440", "label_en": "Other autoinflammatory diseases", "label_ja": "15から24までに掲げるもののほか、自己炎症性疾患", "yomigana": "15から24までにかかげるもののほか、じこえんしょうせいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200440", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201347", "label_en": "Platyspondylic dysplasia, Torrance type", "label_ja": "扁平椎異形成症 Torrance型", "yomigana": "へんぺいついいけいせいしょう とーらんすがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201347", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abdominal distention | Abnormal carpal morphology | Autosomal dominant inheritance | Bowing of the long bones | Brachydactyly | Cleft palate | Coarse facial features | Congenital onset | Decreased cranial base ossification | Delayed gross motor development | Depressed nasal bridge | Disc-like vertebral bodies | Disproportionate short-limb short stature | Dumbbell-shaped long bone | Flat acetabular roof | Flat face | Genu varum | Hydrops fetalis | Hypoplasia of the capital femoral epiphysis | Hypoplastic ilia | Hypoplastic ischia | Hypoplastic pelvis | Hypoplastic pubic bone | Hypoplastic scapulae | Lethal skeletal dysplasia | Limb undergrowth | Low-set ears | Macrocephaly | Malar flattening | Metaphyseal cupping | Metaphyseal irregularity | Micromelia | Midface retrusion | Narrow chest | Neonatal short-limb short stature | Ovoid vertebral bodies | Platyspondyly | Polyhydramnios | Prominent forehead | Protuberant abdomen | Pulmonary hypoplasia | Radial bowing | Respiratory distress | Rhizomelia | Severe limb shortening | Severe platyspondyly | Short distal phalanx of finger | Short foot | Short long bone | Short neck | Short palm | Short ribs | Short thorax | Skeletal dysplasia | Stillbirth | Thin ribs | Thoracic hypoplasia | Thoracolumbar kyphosis | Wafer-thin platyspondyly" ], "symptoms_ja_list": [ "ウエハース様の薄い扁平脊椎 | ダンベル型長管骨 | 不均衡型短肢低身長 | 内反膝 | 円盤状椎体骨 | 卵形椎体骨 | 口蓋裂 | 呼吸窮迫 | 四肢成長不全 | 四肢近位短縮 | 坐骨低形成 | 大腿骨骨頭骨端低形成 | 大頭 | 小肢症 | 常染色体顕性遺伝 | 平坦な寛骨臼蓋 | 平坦な頬 | 平坦な顔 | 恥骨低形成 | 扁平脊椎 | 手根骨の異常 | 新生児短い-四肢低身長 | 橈側湾曲 | 狭い胸郭 | 目立つ額 | 短い手掌 | 短い指末節骨 | 短い肋骨 | 短い胸郭 | 短い足 | 短い長管骨 | 短い頸部 | 短指症候群 | 粗な顔貌 | 粗大運動発達遅延 | 細い肋骨 | 羊水過多 | 耳介低位 | 肩甲骨低形成 | 肺低形成 | 胎児水腫 | 胸腰椎後弯 | 胸郭低形成 | 腸骨低形成 | 腹部突出 | 腹部膨満 | 致死性骨格異形成 | 落ちくぼんだ鼻梁 | 重度の四肢短縮 | 重度の扁平脊椎 | 長管骨湾曲 | 頭蓋底骨化減少 | 顔面中部後退 | 骨幹端カッピング | 骨幹端不規則性 | 骨格異形成 | 骨盤低形成" ] }, { "id": "NANDO:1201160", "label_en": "Pfeiffer syndrome type 1", "label_ja": "ファイファー症候群1型", "yomigana": "ふぁいふぁーしょうこうぐん1がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201160", "notificationNumber": "183", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100012", "symptoms_en_list": [ "Aplasia/Hypoplasia of the thumb | Aqueductal stenosis | Bicoronal synostosis | Brachycephaly | Broad hallux phalanx | Broad thumb | Depressed nasal bridge | Finger syndactyly | Hallux varus | Hearing impairment | High forehead | High palate | Hypertelorism | Low-set ears | Midface retrusion | Proptosis | Short foot | Short hallux | Short nose | Short palm | Toe syndactyly" ], "symptoms_ja_list": [ "両冠状縫合早期癒合 | 両眼隔離 | 内反母趾 | 合指症 | 合趾症 | 幅広い母指 | 幅広い母趾趾骨 | 母指無形成/低形成 | 水道狭窄 | 眼球突出 | 短い手掌 | 短い母趾 | 短い足 | 短い鼻 | 短頭 | 耳介低位 | 落ちくぼんだ鼻梁 | 難聴 | 顔面中部後退 | 高い額 | 高口蓋" ] }, { "id": "NANDO:2200732", "label_en": "Griscelli syndrome type 2", "label_ja": "Griscelli症候群2型", "yomigana": "ぐりせりしょうこうぐん2がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200732", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Accumulation of melanosomes in melanocytes | Autosomal recessive inheritance | Death in childhood | Decreased total neutrophil count | Fever | Hemophagocytosis | Hepatomegaly | Hepatosplenomegaly | Hyperlipidemia | Hypertonia | Hypopigmentation of hair | Hypopigmentation of the skin | Immunodeficiency | Infantile onset | Iris hypopigmentation | Jaundice | Lymphadenopathy | Melanin pigment aggregation in hair shafts | Nausea and vomiting | Pancytopenia | Partial albinism | Petechiae | Premature graying of hair | Progressive neurologic deterioration | Pulmonary infiltrates | Recurrent bacterial infections | Reduced delayed hypersensitivity | Seizure | Silver-gray hair | Spasticity | Splenomegaly" ], "symptoms_ja_list": [ "メラニン細胞のメラノソーム蓄積 | リンパ節腫大 | 免疫不全 | 反復性細菌感染症 | 吐気と 嘔吐 | 好中球減少症 | 常染色体潜性遺伝 | 早発性毛髪白髪 | 毛髪低色素 | 毛髪軸のメラニン色素集簇 | 汎血球減少症 | 点状出血 | 痙性 | 発作 | 発熱 | 皮膚低色素 | 筋緊張亢進 | 肝脾腫 | 肝腫 | 肺浸潤 | 脾腫 | 虹彩低色素 | 血液貪食症 | 進行性神経学的悪化 | 遅延型過敏の減少 | 部分白皮症 | 銀髪 | 高脂血症 | 黄疸" ] }, { "id": "NANDO:2200562", "label_en": "Gaucher disease", "label_ja": "ゴーシェ病", "yomigana": "ごーしぇびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200562", "notificationNumber": "115", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abdominal pain | Abnormal bleeding | Abnormal bone structure | Abnormal heart valve morphology | Abnormal macular morphology | Abnormal myocardium morphology | Abnormal pericardium morphology | Abnormal pulmonary interstitial morphology | Abnormal skin pigmentation | Abnormality of coagulation | Abnormality of extrapyramidal motor function | Abnormality of movement | Abnormality of the skeletal system | Anemia | Aortic valve calcification | Arthralgia | Arthrogryposis multiplex congenita | Ataxia | Avascular necrosis | Bilateral tonic-clonic seizure | Bone pain | Cherry red spot of the macula | Cholelithiasis | Cirrhosis | Corneal opacity | Cranial nerve paralysis | Death in infancy | Decreased beta-glucocerebrosidase level | Decreased circulating HDL-C concentration | Decreased total leukocyte count | Delayed puberty | Delayed skeletal maturation | Dementia | Depression | Developmental regression | Dysphagia | Elevated circulating C-reactive protein concentration | Erlenmeyer flask deformity of the femurs | Fatigue | Feeding difficulties in infancy | Fever | Generalized myoclonic seizure | Gingival bleeding | Growth delay | Hearing impairment | Hematuria | Hemiplegia/hemiparesis | Hepatic failure | Hepatic fibrosis | Hepatitis | Hepatomegaly | Hydrocephalus | Hydrops fetalis | Hypotonia | Ichthyosis | Increased bone mineral density | Increased circulating ferritin concentration | Increased circulating immunoglobulin concentration | Intellectual disability | Joint dislocation | Joint stiffness | Kyphosis | Mitral valve calcification | Multiple myeloma | Oculomotor apraxia | Opisthotonus | Osteoarthritis | Osteolysis | Osteomyelitis | Osteopenia | Osteoporosis | Pancytopenia | Parkinsonism | Pathologic fracture | Polyclonal elevation of circulating IgM concentration | Proteinuria | Pulmonary arterial hypertension | Pulmonary fibrosis | Recurrent fractures | Respiratory insufficiency | Retinopathy | Sensorimotor neuropathy | Short stature | Splenic rupture | Splenomegaly | Strabismus | Thrombocytopenia | Tremor | Ventriculomegaly" ], "symptoms_ja_list": [ "CRP 上昇 | Dementia | β-グルコセレブロシダーゼタンパクと活性の減少 | うつ | パーキンソン症候群 | ポリクローナル IgM 上昇 | 低身長 | 僧帽弁石灰化 | 先天性多発性関節拘縮 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 凝固の異常 | 反復性骨折 | 呼吸不全 | 嚥下障害 | 多発性骨髄腫 | 大動脈弁石灰化 | 大腿骨のErlenmeyer フラスコ変形 | 後弓反張 | 後弯 | 心外膜の異常 | 心弁の異常 | 心筋の異常 | 思春期遅発 | 感覚運動ニューロパチー | 成長遅滞 | 振戦 | 斜視 | 歯肉出血 | 水頭症 | 汎血球減少症 | 無菌性壊死 | 片麻痺/片側不全麻痺 | 異常な出血 | 疲労 | 病的骨折 | 発熱 | 発達退行 | 白血球減少症 | 皮膚色素の異常 | 眼球運動失行症 | 知的障害 | 筋緊張低下 | 網膜症 | 肝不全 | 肝炎 | 肝硬変 | 肝線維症 | 肝腫 | 肺線維症 | 肺高血圧 | 胆石症 | 胎児水腫 | 脳室拡大 | 脳神経麻痺 | 脾破裂 | 脾腫 | 腹痛 | 蛋白尿 | 血小板減少 | 血尿 | 血清フェリチン増加 | 角膜混濁 | 貧血 | 運動の異常 | 運動失調 | 錐体外路運動機能の異常 | 間質性肺疾患 | 関節拘縮 | 関節痛 | 関節脱臼 | 難聴 | 食餌摂取障害 in infancy | 骨ミネラル濃度の増加 | 骨格の異常 | 骨格骨化遅延 | 骨構造異常 | 骨減少症 | 骨痛 | 骨粗鬆症 | 骨融解 | 骨関節炎 | 骨髄炎 | 高αリポ蛋白血症 | 高ガンマグロブリン血症 | 魚鱗癬 | 黄斑のチェリーレッド斑 | 黄斑の異常" ] }, { "id": "NANDO:2200793", "label_en": "MASP2 deficiency", "label_ja": "MASP2 欠損症", "yomigana": "えむえーえすぴー2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200793", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Recurrent pneumonia | Reduced circulating complement concentration | Systemic lupus erythematosus | Ulcerative colitis" ], "symptoms_ja_list": [ "全身性紅斑性狼瘡 | 反復性肺炎 | 常染色体潜性遺伝 | 潰瘍性大腸炎 | 補体欠乏症" ] }, { "id": "NANDO:2100020", "label_en": "Gitelman syndrome", "label_ja": "ギッテルマン症候群", "yomigana": "ぎってるまんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100020", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100008", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201471", "label_en": "Acquired sideroblastic anemia", "label_ja": "後天性鉄芽球性貧血", "yomigana": "こうてんせいてつがきゅうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2201471", "notificationNumber": "46", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100179", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200511", "label_en": "Hereditary dystonia", "label_ja": "遺伝性ジストニア", "yomigana": "いでんせいじすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200511", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100254", "label_en": "Congenital malabsorption", "label_ja": "難治性下痢症", "yomigana": "なんちせいげりしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100254", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201435", "label_en": "Permanent neonatal diabetes mellitus", "label_ja": "永続性新生児糖尿病", "yomigana": "えいぞくせいしんせいじとうにょうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201435", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100158", "symptoms_en_list": [ "Abnormal heart morphology | Abnormality of the upper urinary tract | Apraxia | Arthrogryposis multiplex congenita | Ataxia | Bilateral ptosis | Bilateral tonic-clonic seizure | Coma | Dehydration | Downturned corners of mouth | Failure to thrive | Generalized myoclonic seizure | Global developmental delay | Glycosuria | Hearing impairment | Hyperglycemia | Hypotonia | Hypovolemia | Intellectual disability | Intrauterine growth retardation | Ketonuria | Lower-limb joint contracture | Moderate albuminuria | Motor delay | Neonatal insulin-dependent diabetes mellitus | Neurodevelopmental delay | Pancreatic hypoplasia | Peripheral axonal neuropathy | Prominent metopic ridge | Reduced pancreatic beta cells | Renal tubular dysfunction | Retinopathy | Severe intellectual disability | Weight loss" ], "symptoms_ja_list": [ "ケトン尿 | 上部尿路異常 | 下肢関節拘縮 | 両側性眼瞼下垂 | 体重喪失 | 先天性多発性関節拘縮 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 口角下垂 | 失行症 | 子宮内成長遅滞 | 尿糖 | 循環血液量減少 | 微量アルブミン尿 | 心形態の異常 | 成長障害 (成長不全) | 新生児インスリン依存性糖尿病 | 昏睡 | 末梢神経軸索ニューロパチー | 目立つ前頭縫合隆起 | 知的障害 | 知的障害", "重度 | 神経発生遅延 | 筋緊張低下 | 網膜症 | 脱水 | 腎尿細管機能障害 | 膵β細胞減少 | 膵低形成 | 運動失調 | 運動発達遅滞 | 難聴 | 高血糖" ] }, { "id": "NANDO:1200812", "label_en": "Acute intermittent porphyria", "label_ja": "急性間欠性ポルフィリン症", "yomigana": "きゅうせいかんけつせいぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200812", "notificationNumber": "254", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal distention | Abdominal pain | Abnormal circulating enzyme concentration or activity | Abnormal skin morphology | Acute episodes of neuropathic symptoms | Anxiety | Autosomal dominant inheritance | Back pain | Coma | Confusion | Constipation | Cranial nerve paralysis | Depression | Diarrhea | Distal muscle weakness | Dysuria | Elevated urinary delta-aminolevulinic acid | Excessive daytime somnolence | Fever | Hallucinations | Hepatocellular carcinoma | Hyperhidrosis | Hypertension | Hyponatremia | Ileus | Increased urinary porphobilinogen | Insomnia | Limb pain | Memory impairment | Mental deterioration | Motor axonal neuropathy | Motor polyneuropathy | Muscle weakness | Nausea | Nausea and vomiting | Paralysis | Paralytic ileus | Paranoia | Paresthesia | Peripheral neuropathy | Porphyrinuria | Proximal lower limb muscle weakness | Proximal upper limb muscle weakness | Pseudobulbar paralysis | Psychotic episodes | Renal insufficiency | Respiratory insufficiency | Respiratory paralysis | Restlessness | Seizure | Somatic sensory dysfunction | Tachycardia | Tremor | Urinary incontinence | Urinary retention | Vomiting | Weakness of muscles of respiration" ], "symptoms_ja_list": [ "うつ | イレウス | パラノイア | ポルフィリン尿 | 上肢の近位筋虚弱 | 下痢 | 下肢の近位筋虚弱 | 不安 | 不眠 | 不穏状態 | 低ナトリウム血症 | 便秘 | 偽性球麻痺 | 吐気 | 吐気と 嘔吐 | 呼吸不全 | 呼吸筋虚弱 | 呼吸麻痺 | 嗜眠 | 嘔吐 | 四肢痛 | 多汗 | 尿中δ-アミノレブリン酸上昇 | 尿中ポルホビリノーゲン増加 | 尿閉 | 常染色体顕性遺伝 | 幻覚 | 感覚異常 | 感覚障害 | 振戦 | 排尿障害 | 昏睡 | 末梢神経ニューロパチー | 発作 | 発熱 | 皮膚形態の異常 | 知能悪化 | 神経病症状の急性エピソード | 筋虚弱 | 精神病エピソード | 肝細胞癌 | 背部痛 | 脳神経麻痺 | 腎不全 | 腹痛 | 腹部膨満 | 記憶障害 | 運動性ポリニューロパチー | 運動性軸索ニューロパチー | 遠位筋虚弱 | 遺尿 | 錯乱 | 頻拍 | 高度/補酵素活性異常 | 高血圧 | 麻痺 | 麻痺性イレウス" ] }, { "id": "NANDO:1200601", "label_en": "Developmental and/or epileptic encephalopathy with spike-wave activation in sleep", "label_ja": "睡眠時棘徐波活性化を示す発達性てんかん性脳症およびてんかん性脳症", "yomigana": "すいみんじきょくじょはかっせいかをしめすはったつせいてんかんせいのうしょうおよびてんかんせいのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200601", "notificationNumber": "154", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Aggressive behavior | Aphasia | Atonic seizure | Atypical absence seizure | Autistic behavior | Bilateral tonic-clonic seizure | Clumsiness | Cognitive impairment | Developmental regression | Dystonia | EEG with centrotemporal focal spike waves | EEG with frontal focal spike waves | EEG with generalized polyspikes | Focal aware seizure | Focal clonic seizure | Focal hemiclonic seizure | Focal impaired awareness seizure | Focal motor seizure | Focal-onset seizure | Hyperkinetic movements | Intellectual disability | Interictal epileptiform activity | Motor deterioration | Myoclonic absence seizure | Psychotic mentation | Seizure | Speech apraxia | Speech articulation difficulties | Typical absence seizure" ], "symptoms_ja_list": [ "てんかん型脳波放電 | ジストニア | ミオクローヌス性欠伸発作 | 不器用 | 中心側頭焦点性棘波を伴う脳波 | 全般性多棘波を伴う脳波 | 全身性間代性強直性発作 | 典型的欠伸発作 | 前頭焦点性棘波を伴う脳波脳波 | 多動 | 失語症 | 意識または覚醒障害を伴う焦点性発作 | 意識または覚醒障害を伴わない焦点性発作 | 攻撃的行動 | 焦点性発作 | 焦点性運動発作 | 焦点性間代性発作 | 片側間代性発作 | 発作 | 発語失行症 | 発語調音困難 | 発達退行 | 知的障害 | 精神病的精神機能 | 脱力発作 | 自閉性行動 | 認知障害 | 運動発達悪化 | 非典型的欠伸発作" ] }, { "id": "NANDO:2200154", "label_en": "Autosomal recessive polycystic kidney disease", "label_ja": "常染色体劣性多発性嚢胞腎", "yomigana": "じょうせんしょくたいれっせいたはつせいのうほうじん", "url": "http://nanbyodata.jp/ontology/NANDO_2200154", "notificationNumber": "10", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [ "Abnormal intrahepatic bile duct morphology | Acute kidney injury | Ascites | Biliary hyperplasia | Cholestasis | Cognitive impairment | Congenital hepatic fibrosis | Decreased circulating vitamin D concentration | Decreased circulating vitamin E concentration | Decreased circulating vitamin K concentration | Depressed nasal ridge | Enlarged kidney | Esophageal varix | Fat malabsorption | Feeding difficulties | Gastrointestinal hemorrhage | Growth delay | Hepatic fibrosis | Hepatoblastoma | Hepatosplenomegaly | Hypersplenism | Hypertension | Hyponatremia | Hypoventilation | Increased serum bile acid concentration | Jaundice | Low-set ears | Micrognathia | Oligohydramnios | Oliguria | Pancreatic cysts | Periportal fibrosis | Polycystic kidney dysplasia | Polydipsia | Portal hypertension | Protein-losing enteropathy | Pulmonary hypoplasia | Recurrent pneumonia | Recurrent urinary tract infections | Reduced circulating vitamin A concentration | Reduced renal corticomedullary differentiation | Renal insufficiency | Respiratory failure | Splenomegaly | Spontaneous pneumothorax | Stage 5 chronic kidney disease | Thrombocytopenia" ], "symptoms_ja_list": [ "ステージ5慢性腎疾患 | タンパク漏出性腸症 | ビタミンA欠乏症 | ビタミンD欠乏症 | ビタミンE欠乏症 | ビタミンK欠乏症 | 乏尿 | 低ナトリウム血症 | 低換気 | 先天性肝線維症 | 反復性尿路感染症 | 反復性肺炎 | 呼吸不全 | 多嚢胞性腎異形成 | 多飲 | 小顎 | 急性腎外傷 | 成長遅滞 | 羊水過少 | 耳介低位 | 肝内胆管の異常 | 肝線維症 | 肝脾腫 | 肝芽腫 | 肺低形成 | 胃腸出血 | 胆汁うっ滞 | 胆管過形成 | 脂肪吸収不全 | 脾機能亢進 | 脾腫 | 腎不全 | 腎拡大 | 腎皮質髄質分化の減少 | 腹水 | 膵膿瘍 | 自然気胸 | 落ちくぼんだ鼻梁 | 血小板減少 | 血清胆汁酸濃度の増加 | 認知障害 | 門脈周囲線維症 | 門脈圧亢進 | 食道静脈瘤 | 食餌摂取障害 | 高血圧 | 黄疸" ] }, { "id": "NANDO:1200262", "label_en": "Microscopic polyangiitis", "label_ja": "顕微鏡的多発血管炎", "yomigana": "けんびきょうてきたはつけっかんえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200262", "notificationNumber": "43", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal retinal vascular morphology | Abnormal urine cytology | Anemia | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Chest pain | Congestive heart failure | Crescentic glomerulonephritis | Cutis marmorata | Diarrhea | Elevated erythrocyte sedimentation rate | Episcleritis | Epistaxis | Erythema | Fatigue | Fever | Gangrene | Gastrointestinal hemorrhage | Gastrointestinal infarctions | Glomerulonephritis | Glomerulopathy | Hematuria | Hemoptysis | Increased inflammatory response | Myalgia | Nausea and vomiting | Oliguria | Pancreatitis | Paresthesia | Pericarditis | Peripheral neuropathy | Peritonitis | Poor appetite | Renal insufficiency | Sinusitis | Skin rash | Skin ulcer | Subcutaneous hemorrhage | Subcutaneous nodule | Uveitis | Vasculitis | Venous thrombosis | Weight loss" ], "symptoms_ja_list": [ "うっ血性心不全 | ブドウ膜炎 | 上強膜炎 | 下痢 | 不整脈 | 乏尿 | 体重喪失 | 共通 | 副鼻腔炎 | 半月形糸球体腎炎 | 吐気と 嘔吐 | 喀血 | 壊疽 | 大理石皮膚 | 尿中細胞異常 | 心外膜炎 | 感覚異常 | 末梢神経ニューロパチー | 炎症反応増加 | 疲労 | 発熱 | 皮下出血 | 皮下結節 | 皮膚潰瘍 | 皮膚発疹 | 筋痛 | 糸球体症 | 糸球体腎炎 | 紅斑 | 網膜血管の異常 | 胃腸出血 | 胃腸梗塞 | 腎不全 | 腹痛 | 腹膜炎 | 膵炎 | 自己免疫 | 血尿 | 血管炎 | 貧血 | 赤沈値上昇 | 関節炎 | 関節痛 | 静脈血栓症 | 食思不振 | 鼻出血" ] }, { "id": "NANDO:2200712", "label_en": "Thymus hypoplasia", "label_ja": "胸腺低形成", "yomigana": "きょうせんていけいせい", "url": "http://nanbyodata.jp/ontology/NANDO_2200712", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100204", "symptoms_en_list": [ "Abnormal T cell physiology | Abnormal aortic arch morphology | Abnormal aortic valve morphology | Abnormal cardiovascular system morphology | Abnormal dental enamel morphology | Abnormal eyelid morphology | Abnormal facial shape | Abnormal lung lobation | Abnormal pulmonary valve morphology | Abnormal skull morphology | Abnormal thorax morphology | Abnormal thymus morphology | Abnormality of the dentition | Abnormality of the ear | Abnormality of the hand | Abnormality of the middle ear | Abnormality of the pharynx | Abnormality of the tonsils | Abnormality of the uterus | Abnormality of thrombocytes | Acne | Aganglionic megacolon | Aggressive behavior | Amblyopia | Anal atresia | Anemia | Anorectal anomaly | Anxiety | Aphasia | Arachnodactyly | Arrhinencephaly | Arthritis | Asthma | Atelectasis | Atrial septal defect | Attention deficit hyperactivity disorder | Atypical behavior | Autism | Autoimmunity | Autosomal dominant inheritance | Bifid uvula | Bipolar affective disorder | Blepharophimosis | Bowel incontinence | Bulbous nose | Carious teeth | Cataract | Choanal atresia | Cholelithiasis | Chronic otitis media | Chronic pulmonary obstruction | Cleft palate | Conductive hearing impairment | Constipation | Corneal neovascularization | Cryptorchidism | Delayed speech and language development | Depression | Double aortic arch | Downslanted palpebral fissures | Drooling | Emotional lability | Epicanthus | Esotropia | Exotropia | Failure to thrive | Feeding difficulties in infancy | Femoral hernia | Foot polydactyly | Gastroesophageal reflux | Gastrointestinal hemorrhage | Glaucoma | Global developmental delay | Hand polydactyly | Hearing impairment | Hemiparesis | Hepatic steatosis | High palate | High", "narrow palate | Hydrocele testis | Hydrocephalus | Hydronephrosis | Hypernasal speech | Hypertelorism | Hypertensive crisis | Hyperthyroidism | Hypocalcemia | Hypoparathyroidism | Hypopigmented skin patches | Hypoplasia of the thymus | Hypospadias | Hypothyroidism | Hypotonia | Immunodeficiency | Inguinal hernia | Intellectual disability | Interrupted aortic arch | Intervertebral disk degeneration | Intestinal malrotation | Intrauterine growth retardation | Joint hypermobility | Laryngomalacia | Long face | Long philtrum | Low-set ears | Malar flattening | Meningocele | Microcephaly | Micrognathia | Microphthalmia | Mild intellectual disability | Multiple renal cysts | Multiple suture craniosynostosis | Myalgia | Narrow mouth | Obesity | Open mouth | Optic atrophy | Ovarian cyst | Overfolded helix | Paranoia | Parathyroid agenesis | Parathyroid hypoplasia | Parkinsonism | Patellar dislocation | Patent ductus arteriosus | Pierre-Robin sequence | Pilonidal sinus | Platybasia | Polycystic kidney dysplasia | Polyhydramnios | Posterior embryotoxon | Prominent nasal bridge | Ptosis | Pulmonary artery atresia | Purpura | Recurrent infections | Recurrent otitis media | Recurrent pneumonia | Recurrent sinusitis | Renal dysplasia | Renal hypoplasia | Renal insufficiency | Retinal arteriolar tortuosity | Retinal vascular tortuosity | Retrognathia | Right aortic arch with mirror image branching | Schizophrenia | Sclerocornea | Scoliosis | Seborrheic dermatitis | Seizure | Short neck | Short palpebral fissure | Short philtrum | Short stature | Small earlobe | Specific learning disability | Spina bifida | Splenomegaly | Strabismus | Submucous cleft hard palate | Talipes | Talipes equinovarus | Telecanthus | Tetany | Tetralogy of Fallot | Thrombocytopenia | Tricuspid atresia | Truncus arteriosus | Turricephaly | Umbilical hernia | Underdeveloped nasal alae | Unilateral primary pulmonary dysgenesis | Unilateral renal agenesis | Upslanted palpebral fissure | Varicose veins | Velopharyngeal insufficiency | Ventricular septal defect | Vesicoureteral reflux | Wide nasal bridge" ], "symptoms_ja_list": [ "?瘡 | Fallot 四徴症 | Pierre-Robin シークェンス | T 細胞生理の異常 | うつ | くも指 | テタニー | パラノイア | パーキンソン症候群 | 三尖弁閉鎖 | 下顎後退 | 不安 | 両眼隔離 | 中耳の異常 | 二分した口蓋垂 | 二分脊椎 | 伝音難聴 | 低カルシウム血症 | 低色素性皮膚斑 | 低身長 | 便秘 | 停留精巣 | 側弯 | 免疫不全 | 全般性発達遅滞 | 内反尖足 | 内斜視 | 内眼角外方偏位 | 内眼角贅皮 | 副甲状腺低形成 | 副甲状腺機能低下症 | 副甲状腺無発生 | 動脈管開存症 | 卵巣嚢胞 | 双極性感情障害 | 反復性中耳炎 | 反復性副鼻腔炎 | 反復性感染症 | 反復性肺炎 | 口蓋帆咽頭不全 | 口蓋裂 | 咽頭の異常 | 喉頭軟化症 | 喘息 | 塔状頭 | 外斜視 | 多嚢胞性腎異形成 | 多指症 | 多発性腎嚢胞 | 多発性頭蓋骨縫合早期癒合 | 多趾症 | 大動脈弁の異常 | 大動脈弓の異常 | 大動脈弓離断 | 大腿ヘルニア | 失語症 | 子宮内成長遅滞 | 子宮異常 | 小さい耳朶 | 小眼球 | 小頭 | 小顎 | 尖足 | 尿道下裂 | 常染色体顕性遺伝 | 幅広い鼻梁 | 平坦な頬 | 弱視 | 後部胎生環 | 後鼻孔閉鎖 | 循環器系の形態異常 | 心室中隔欠損 | 心房中隔欠損 | 情動不安定 | 慢性中耳炎 | 慢性閉塞性肺疾患 | 成長障害 (成長不全) | 扁平頭蓋底 | 扁桃の異常 | 手の異常 | 攻撃的行動 | 斜視 | 椎間板変性 | 歯の異常 | 歯エナメル質異常 | 毛巣洞 | 水腎症 | 水頭症 | 注意力欠陥多動性疾患 | 流涎 | 無嗅脳症 | 無気肺 | 無神経節性巨大結腸 | 片側不全麻痺 | 片側性原発性肺異発生 | 片側性腎無発生 | 特異的学習障害 | 狭い口 | 球状の鼻 | 甲状腺機能亢進症 | 甲状腺機能低下症 | 異常な顔の形 | 発作 | 発語および言語発達遅延 | 白内障 | 目立つ鼻梁 | 眼瞼の異常 | 眼瞼下垂 | 眼瞼裂斜上 | 眼瞼裂斜下 | 眼瞼裂狭小 | 知的障害 | 知的障害", "軽度 | 短い人中 | 短い眼瞼裂 | 短い頸部 | 筋痛 | 筋緊張低下 | 粘膜下硬口蓋裂 | 紫斑 | 統合失調症 | 網膜小動脈蛇行 | 網膜血管蛇行 | 総動脈幹 | 緑内障 | 羊水過多 | 耳の異常 | 耳介低位 | 耳輪の過剰な巻き込み | 肛門直腸奇形 | 肥満 | 肺分葉の異常 | 肺動脈弁の異常 | 肺動脈閉鎖 | 胃腸出血 | 胃食道逆流 | 胆石症 | 胸腺の異常 | 胸腺低形成 | 胸郭の異常 | 脂漏性皮膚炎 | 脂肪肝 | 脾腫 | 腎不全 | 腎低形成 | 腎異形成 | 腸回転異常 | 膀胱尿管逆流 | 膝蓋骨脱臼 | 臍ヘルニア | 自己免疫 | 自閉症 | 血小板の異常 | 血小板減少 | 行動異常 | 視神経萎縮 | 角膜硬化 | 角膜血管新生 | 貧血 | 遺糞症 | 重複大動脈弓 | 鎖肛 | 鏡像分枝を伴う右大動脈弓 | 長い人中 | 長い顔 | 開口 | 関節炎 | 関節過動 | 陰嚢水腫 | 難聴 | 静脈瘤 | 頭蓋骨の異常 | 食餌摂取障害 in infancy | 髄膜瘤 | 高口蓋 | 高狭口蓋 | 高血圧クライシス | 鼠径ヘルニア | 鼻声発語 | 鼻翼未発達 | 齲歯" ] }, { "id": "NANDO:2200784", "label_en": "C6 deficiency", "label_ja": "C6 欠損症", "yomigana": "しー6けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200784", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100209", "symptoms_en_list": [ "Autosomal recessive inheritance | Recurrent Neisseria meningitidis infection" ], "symptoms_ja_list": [ "反復性髄膜炎菌疾患 | 常染色体潜性遺伝" ] }, { "id": "NANDO:1200690", "label_en": "Fragile X syndrome related diseases", "label_ja": "脆弱Ｘ症候群関連疾患", "yomigana": "ぜいじゃくえっくすしょこうぐんかんれんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200690", "notificationNumber": "205", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal brainstem morphology | Action tremor | Agitation | Anxiety | Ataxia | Bowel incontinence | Bradykinesia | Cerebellar atrophy | Cerebral cortical atrophy | Compulsive behaviors | Dementia | Depression | Diffuse cerebellar atrophy | Diffuse cerebral atrophy | Disinhibition | Dysarthria | Dysdiadochokinesis | Dysesthesia | Dysmetria | Dysphagia | Gait ataxia | Gait disturbance | Hearing impairment | Hypertension | Hyporeflexia | Hypotension | Hypothyroidism | Impaired distal vibration sensation | Impotence | Intention tremor | Irritability | Late onset | Lower limb muscle weakness | Mask-like facies | Memory impairment | Mental deterioration | Muscle weakness | Myalgia | Nystagmus | Obsessive-compulsive trait | Parkinsonism | Peripheral neuropathy | Pollakisuria | Poor fine motor coordination | Postural instability | Postural tremor | Premature ovarian insufficiency | Resting tremor | Rigidity | Saccadic smooth pursuit interruptions | Ubiquitin-positive cerebral inclusion bodies | Urinary bladder sphincter dysfunction | Urinary incontinence | X-linked dominant inheritance" ], "symptoms_ja_list": [ "Dementia | X連鎖顕性遺伝 | うつ | びまん性大脳萎縮 | びまん性小脳萎縮 | インポテンス | サッカード性滑らかな追視 | パーキンソン症候群 | ユビキチン陽性大脳封入体 | 下肢筋虚弱 | 不安 | 不穏 | 仮面様顔貌 | 企図振戦 | 低血圧 | 作動振戦 | 反射低下 | 嚥下障害 | 大脳皮質萎縮 | 姿勢不安定 | 姿勢性振戦 | 安静時振戦 | 小脳萎縮 | 強迫性形質 | 強迫性行動 | 微細運動協調不全 | 感覚異常 | 拮抗運動反復不全 | 早発性卵巣不全 | 末梢神経ニューロパチー | 構音障害 | 歩行失調 | 歩行障害 | 測定障害 | 甲状腺機能低下症 | 異常な自律神経生理 | 眼振 | 知能悪化 | 硬直 | 筋痛 | 筋虚弱 | 脱抑制 | 脳幹形態の異常 | 膀胱括約筋機能障害 | 被刺激性 | 記憶障害 | 運動失調 | 運動緩徐 | 遠位振動覚障害 | 遺尿 | 遺糞症 | 難聴 | 頻用 | 高血圧" ] }, { "id": "NANDO:1200843", "label_en": "Hepatic GSD type IIIb", "label_ja": "肝型糖原病IIIb型", "yomigana": "かんがたとうげんびょう3びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1200843", "notificationNumber": "257", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200980", "label_en": "Adult-onset type II citrullinemia", "label_ja": "成人発症II型シトルリン血症", "yomigana": "せいじんはっしょう2がたしとるりんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200980", "notificationNumber": "318", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal eating behavior | Acute hyperammonemia | Adult onset | Aggressive behavior | Asterixis | Autosomal recessive inheritance | Cerebral edema | Coma | Confusion | Decreased circulating HDL-C concentration | Delayed menarche | Delusion | Diarrhea | Drowsiness | Echolalia | Elevated circulating hepatic transaminase concentration | Elevated plasma citrulline | Enuresis | Fluctuations in consciousness | Global developmental delay | Hallucinations | Hepatic encephalopathy | Hepatic fibrosis | Hepatic steatosis | Hepatocellular carcinoma | Hepatomegaly | Hyperactivity | Hyperammonemia | Hypercholesterolemia | Hyperlipidemia | Hypertriglyceridemia | Hypoalbuminemia | Hypoproteinemia | Insomnia | Irritability | Lethargy | Mania | Memory impairment | Pancreatitis | Psychosis | Restlessness | Seizure | Sleep disturbance | Tremor | Vomiting" ], "symptoms_ja_list": [ "マニア | 下痢 | 不眠 | 不穏状態 | 低タンパク血症 | 全般性発達遅滞 | 初潮遅延 | 反響言語 | 嘔吐 | 多動 | 大脳浮腫 | 妄想 | 常染色体潜性遺伝 | 幻覚 | 急性高アンモニア血症 | 意識下での線維束性収縮 | 振戦 | 攻撃的行動 | 昏睡 | 無気力 | 異常な摂食行動 | 発作 | 眠気 | 睡眠障害 | 精神病 | 羽ばたき振戦 | 肝トランスアミナーゼ上昇 | 肝性脳症 | 肝細胞癌 | 肝線維症 | 肝腫 | 脂肪肝 | 膵炎 | 血漿シトルリン上昇 | 被刺激性 | 記憶障害 | 遺尿 | 錯乱 | 高αリポ蛋白血症 | 高アルブミン血症 | 高アンモニア血症 | 高コレステロール血症 | 高トリグリセリド血症 | 高脂血症" ] }, { "id": "NANDO:1200321", "label_en": "X-linked severe combined immunodeficiency", "label_ja": "X連鎖重症複合免疫不全症", "yomigana": "えっくすれんさじゅうしょうふくごうめんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200321", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abnormal circulating immunoglobulin concentration | Abnormal natural killer cell physiology | Agammaglobulinemia | Chronic diarrhea | Cough | Decreased circulating IgA concentration | Decreased circulating IgE concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased total T cell count | Decreased total lymphocyte count | Diarrhea | Failure to thrive | Hepatomegaly | Hypoplasia of the thymus | Increased circulating IgG concentration | Infantile onset | Jaundice | Lymph node hypoplasia | Lymphoma | Lymphoproliferative disorder | Neonatal onset | Pneumonia | Recurrent Haemophilus influenzae infection | Recurrent bacterial infections | Recurrent bacterial meningitis | Recurrent bacterial skin infections | Recurrent cutaneous fungal infections | Recurrent fever | Recurrent fungal infections | Recurrent herpes | Recurrent mucocutaneous candidiasis | Recurrent opportunistic infections | Recurrent oral thrush | Recurrent pneumonia | Sepsis | Severe combined immunodeficiency | Severe recurrent varicella | Skin rash | X-linked recessive inheritance | obsolete Impaired lymphocyte transformation with phytohemagglutinin" ], "symptoms_ja_list": [ "IgA欠乏症 | IgE欠乏症 | IgG 値増加 | IgG欠乏症 | IgM欠乏症 | PHによるリンパ球変態障害 | T リンパ球減少症 | X連鎖潜性遺伝 | ナチュラルキラー細胞生理の異常 | ヘルペスウイルスへの感受性 | リンパ増殖性疾患 | リンパ球減少症 | リンパ節低形成 | リンパ腫 | 下痢 | 免疫グロブリン値異常 | 反復性インフルエンザ菌感染症 | 反復性カビ感染症 | 反復性日和見感染症 | 反復性皮膚カビ感染症 | 反復性細菌性皮膚感染症 | 反復性細菌性髄膜炎 | 反復性細菌感染症 | 反復性肺炎 | 外層 | 慢性下痢 | 慢性口腔カンジダ症 | 慢性粘膜皮膚カンジダ症 | 成長障害 (成長不全) | 敗血症 | 無ガンマグロブリン血症 | 発熱エピソード | 皮膚発疹 | 肝腫 | 肺炎 | 胸腺低形成 | 重症反復性水痘 | 重症複合型免疫不全 | 黄疸" ] }, { "id": "NANDO:1200099", "label_en": "Hunter syndrome type B", "label_ja": "ハンター症候群（軽症型）", "yomigana": "はんたーしょうこうぐん（けいしょうがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200099", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200881", "label_en": "Giant lymphatic malformation (cervicofacial lesion)", "label_ja": "巨大リンパ管奇形（頚部顔面病変）", "yomigana": "きょだいりんぱかんきけい（けいぶがんめんびょうへん）", "url": "http://nanbyodata.jp/ontology/NANDO_1200881", "notificationNumber": "278", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201247", "label_en": "Adolescent cerebral adrenoleukodystrophy", "label_ja": "思春期大脳型副腎白質ジストロフィー", "yomigana": "ししゅんきだいのうがたふくじんはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_2201247", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201014", "label_en": "Chronic articular adult onset Still's disease", "label_ja": "慢性関節型成人スチル病", "yomigana": "まんせいかんせつがたせいじんすちるびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201014", "notificationNumber": "54", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200637", "label_en": "Oculocutaneous albinism", "label_ja": "眼皮膚白皮症", "yomigana": "がんひふはくひしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200637", "notificationNumber": "164", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200521", "label_en": "Dystonia 10", "label_ja": "DYT10ジストニア", "yomigana": "でぃーわいてぃー10じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200521", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200991", "label_en": "3-methylglutaconicaciduria type II", "label_ja": "メチルグルタコン酸尿症II型", "yomigana": "めちるぐるたこんさんにょうしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200991", "notificationNumber": "324", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "3-Methylglutaconic aciduria | Abnormal mitochondrial morphology | Abnormality of neutrophils | Arrhythmia | Broad forehead | Congestive heart failure | Decreased total granulocyte count | Decreased total neutrophil count | Deeply set eye | Dilated cardiomyopathy | Endocardial fibroelastosis | Exercise intolerance | Failure to thrive | Fair hair | Fatigue | Full cheeks | Gait disturbance | Global developmental delay | Gowers sign | Growth delay | High forehead | Hypertrophic cardiomyopathy | Hypochromic microcytic anemia | Infantile onset | Intermittent lactic acidemia | Macrotia | Mandibular prognathia | Motor delay | Myopathic facies | Pointed chin | Recurrent bronchitis | Recurrent infections in infancy and early childhood | Round face | Skeletal myopathy | Talipes equinovarus | Tricuspid regurgitation | X-linked recessive inheritance" ], "symptoms_ja_list": [ "3-メチルグルタコン酸尿症 | Gowers サイン | X連鎖潜性遺伝 | うっ血性心不全 | ミオパチー顔貌 | ミトコンドリア形態異常 | 三尖弁逆流 | 下顎突出 | 不整脈 | 丸い顔 | 乳児期および早期小児期の反復性感染症 | 低色素性小球性貧血 | 全般性発達遅滞 | 内反尖足 | 反復性気管支炎 | 大きな頬 | 大耳 | 好中球の異常 | 好中球減少症 | 尖った下顎 | 幅広い額 | 心内膜線維弾性症 | 成長遅滞 | 成長障害 (成長不全) | 拡張型心筋症 | 歩行障害 | 疲労 | 肥大型心筋症 | 落ちくぼんだ眼 | 運動不耐症 | 運動発達遅滞 | 金髪 | 間歇的乳酸性酸血症 | 顆粒球減少症 | 骨格筋ミオパチー | 高い額" ] }, { "id": "NANDO:2201295", "label_en": "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "label_ja": "小脳萎縮と脳梁低形成を伴うびまん性大脳白質形成不全症", "yomigana": "しょうのういしゅくとのうりょうていけいせいをともなうびまんせいだいのうはくしつけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201295", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201156", "label_en": "Neurodegeneration with brain iron accumulation type2B", "label_ja": "脳内鉄沈着神経変性症2B型", "yomigana": "のうないてつちんちゃくしんけいへんせいしょう2びーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201156", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Autosomal recessive inheritance | Babinski sign | Bradykinesia | Cerebellar atrophy | Cerebral atrophy | Childhood onset | Chorea | Delayed speech and language development | Dysarthria | Dysdiadochokinesis | Dysmetria | Dysphagia | Dystonia | Emotional lability | Feeding difficulties | Gait ataxia | Hyperactivity | Hypertonia | Impaired smooth pursuit | Impulsivity | Intention tremor | Lewy bodies | Mental deterioration | Neurodegeneration | Neurofibrillary tangles | Nystagmus | Optic atrophy | Progressive | Seizure | Short attention span | Spasticity | Talipes calcaneovalgus" ], "symptoms_ja_list": [ "Babinski サイン | Lewy 小体 | ジストニア | 企図振戦 | 嚥下障害 | 外反踵骨 | 多動 | 大脳萎縮 | 小脳萎縮 | 常染色体潜性遺伝 | 情動不安定 | 拮抗運動反復不全 | 構音障害 | 歩行失調 | 測定障害 | 滑らかな追視の障害 | 痙性 | 発作 | 発語および言語発達遅延 | 眼振 | 知能悪化 | 短い注意期間 | 神経原線維濃縮体 | 神経変性 | 筋緊張亢進 | 舞踏病 | 衝動性 | 視神経萎縮 | 運動緩徐 | 食餌摂取障害" ] }, { "id": "NANDO:2201456", "label_en": "Gastric juvenile polyposis", "label_ja": "胃限局型若年性ポリポーシス", "yomigana": "いげんきょくがたじゃくねんせいぽりぽーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201456", "notificationNumber": "41", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100257", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200671", "label_en": "Rothmund-Thomson syndrome", "label_ja": "ロスムンド・トムソン症候群", "yomigana": "ろすむんど・とむそんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200671", "notificationNumber": "186", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal dental enamel morphology | Abnormal nail morphology | Abnormal trabecular bone morphology | Abnormality of blood and blood-forming tissues | Abnormality of the dentition | Abnormality of the skeletal system | Alopecia totalis | Anemia | Aplasia/Hypoplasia of the patella | Aplasia/Hypoplasia of the radius | Aplasia/Hypoplasia of the skin | Aplastic anemia | Basal cell carcinoma | Broad ulna | Calcinosis | Carious teeth | Decreased total neutrophil count | Delayed eruption of teeth | Diarrhea | Facial edema | Hypopigmentation of the skin | Hypoplasia of teeth | Hypoplasia of the ulna | Increased susceptibility to fractures | Infertility | Juvenile cataract | Leukemia | Melanoma | Microdontia | Myelodysplasia | Nail dysplasia | Nasogastric tube feeding in infancy | Neoplasm of the skin | Osteopenia | Palmar hyperkeratosis | Plantar hyperkeratosis | Poikiloderma | Porokeratosis | Reduced bone mineral density | Reticular hyperpigmentation | Selective tooth agenesis | Short stature | Short thumb | Skin rash | Small for gestational age | Small nail | Sparse eyelashes | Sparse hair | Squamous cell carcinoma | Supernumerary tooth | Telangiectasia of the skin | Vomiting" ], "symptoms_ja_list": [ "下痢 | 不妊 | 乳児期の鼻腔栄養 | 低身長 | 全禿頭 | 再生不良性貧血 | 嘔吐 | 在胎月齢より小さい児 | 基底細胞癌 | 多形皮膚萎縮症 (ポイキロデルマ) | 好中球減少症 | 小さい爪 | 小歯 | 尺骨低形成 | 幅広い尺骨 | 手掌過角化症 | 易骨折性の増加 | 橈骨無形成/低形成 | 歯の異常 | 歯エナメル質異常 | 歯低形成 | 歯数増加 | 歯萠出遅延 | 汗孔角化症 | 海綿骨形態異常 | 爪の異常 | 爪異形成 | 異常な皮膚水泡 | 疎な毛髪 | 疎な睫毛 | 白血病 | 皮膚低色素 | 皮膚新生物 | 皮膚毛細血管拡張 | 皮膚無形成/低形成 | 皮膚発疹 | 短い母指 | 石灰症 | 網状高色素 | 膝蓋骨無形成/低形成 | 若年性白内障 | 血液および血液痙性組織の異常 | 貧血 | 足底過角化症 | 選択的歯無発生 | 顔面浮腫 | 骨ミネラル濃度減少 | 骨格の異常 | 骨減少症 | 骨髄異形成 | 黒色腫 | 齲歯" ] }, { "id": "NANDO:1200011", "label_en": "Corticobasal degeneration", "label_ja": "大脳皮質基底核変性症", "yomigana": "だいのうひしつきていかくへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200011", "notificationNumber": "7", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200442", "label_en": "Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation", "label_ja": "自己炎症合併フォスフォリパーゼCγ2関連抗体欠損免疫異常症", "yomigana": "じこえんしょうがっぺいふぉすふぉりぱーぜしーがんま2かんれんこうたいけっそんめんえきいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200442", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Arthralgia | Autosomal dominant inheritance | Cataract | Cellulitis | Corneal erosion | Decreased circulating IgA concentration | Decreased circulating IgM concentration | Enterocolitis | Erythema | Immune dysregulation | Infantile onset | Interstitial pneumonitis | Recurrent sinopulmonary infections | Ulcerative colitis | Unusual bronchiolitis" ], "symptoms_ja_list": [ "IgA欠乏症 | IgM欠乏症 | 免疫調節障害 | 反復性副鼻腔肺感染症 | 小腸結腸炎 | 常染色体顕性遺伝 | 潰瘍性大腸炎 | 白内障 | 紅斑 | 細気管支炎 | 蜂巣織炎 | 角膜びらん | 間質性肺臓炎 | 関節痛" ] }, { "id": "NANDO:1200649", "label_en": "Ehlers-Danlos syndrome, kyphoscoliotic type", "label_ja": "後側彎型エーラス・ダンロス症候群", "yomigana": "こうそくわんがたえーらす・だんろすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200649", "notificationNumber": "168", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal bleeding | Abnormal circulating enzyme concentration or activity | Abnormal pinna morphology | Abnormal venous morphology | Aortic aneurysm | Aortic dissection | Arachnodactyly | Arterial dissection | Atrophic scars | Atypical scarring of skin | Autosomal recessive inheritance | Bladder diverticulum | Blindness | Blue sclerae | Bruising susceptibility | Congenital bilateral hip dislocation | Congenital hip dislocation | Congestive heart failure | Decreased fetal movement | Decreased muscle mass | Delayed gross motor development | Dental crowding | Depressed nasal bridge | Diminished deep tendon reflex | Disproportionate tall stature | Downslanted palpebral fissures | EMG: myopathic abnormalities | Elbow flexion contracture | Epicanthus | Excessive wrinkled skin | Follicular hyperkeratosis | Fragile skin | Gastrointestinal hemorrhage | Generalized joint hypermobility | Generalized muscle weakness | Glaucoma | High", "narrow palate | Hip dislocation | Hyperextensible skin | Hypermetropia | Hypotonia | Impaired vibratory sensation | Inguinal hernia | Joint dislocation | Joint hypermobility | Keratoconus | Kyphoscoliosis | Limb muscle weakness | Microcornea | Mitral valve prolapse | Molluscoid pseudotumors | Muscle fiber atrophy | Muscle weakness | Myopia | Neonatal hypotonia | Osteopenia | Osteoporosis | Palmoplantar cutis laxa | Patellar dislocation | Pectus excavatum | Peripheral axonal neuropathy | Pes planus | Platyspondyly | Poor wound healing | Premature rupture of membranes | Progressive congenital scoliosis | Protrusio acetabuli | Ptosis | Recurrent pneumonia | Respiratory insufficiency | Restrictive ventilatory defect | Retinal detachment | Shoulder subluxation | Soft skin | Strabismus | Talipes equinovarus | Tall stature | Thin ribs | Thin skin | Thoracic kyphoscoliosis | Thoracic scoliosis | Trigonocephaly | Umbilical hernia | Vascular dilatation" ], "symptoms_ja_list": [ "うっ血性心不全 | くも指 | 三角頭蓋 | 不均衡型高身長 | 傷治癒不全 | 僧帽弁逸脱 | 先天性両側性股関節脱臼 | 先天性股関節脱臼 | 全身性筋虚弱 | 全身性関節弛緩 | 内反尖足 | 内眼角贅皮 | 円錐角膜 | 出血傾向 | 前期破水 | 動脈瘤 | 動脈解離 | 反復性肺炎 | 呼吸不全 | 四肢筋虚弱 | 大動脈瘤 | 大動脈解離 | 寛骨臼突出 | 小角膜 | 常染色体潜性遺伝 | 後側弯 | 扁平脊椎 | 扁平足 | 拘束性肺疾患 | 振動覚障害 | 掌蹠弛緩性皮膚 | 斜視 | 新生児筋緊張低下 | 末梢神経軸索ニューロパチー | 柔らかい皮膚 | 歯混雑 | 毛包過角化症 | 漏斗胸 | 異常な出血 | 盲 | 眼瞼下垂 | 眼瞼裂斜下 | 筋緊張低下 | 筋線維萎縮 | 筋虚弱 | 筋量減少 | 筋電図: ミオパチー異常 | 粗大運動発達遅延 | 細い肋骨 | 網膜剥離 | 緑内障 | 耳介の異常 | 肘屈曲拘縮 | 股関節脱臼 | 肩亜脱臼 | 胃腸出血 | 胎動減少 | 胸部側弯 | 胸部後側弯 | 脆い皮膚 | 腱反射減少 | 膀胱憩室 | 膝蓋骨脱臼 | 臍ヘルニア | 萎縮性瘢痕 | 落ちくぼんだ鼻梁 | 薄い皮膚 | 軟属腫様偽腫瘍 | 近視 | 進行性先天性側弯 | 過伸展皮膚 | 過剰な皺の多い皮膚 | 遠視 | 関節脱臼 | 関節過動 | 青色胸膜 sclerae | 静脈異常 | 非典型的皮膚瘢痕 | 骨減少症 | 骨粗鬆症 | 高度/補酵素活性異常 | 高狭口蓋 | 高身長 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200139", "label_en": "Classic infantile Pompe disease", "label_ja": "乳児型ポンペ病", "yomigana": "にゅうじがたぽんぺびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200139", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal CNS myelination | Abnormal circulating enzyme concentration or activity | Areflexia | Autosomal recessive inheritance | Cardiomegaly | Diaphragmatic paralysis | Difficulty climbing stairs | Dilatation of the cerebral artery | Dyspnea | Elevated circulating creatine kinase activity | Exercise intolerance | Facial hypotonia | Failure to thrive | Feeding difficulties in infancy | Fever | Firm muscles | Floppy infant | Gait disturbance | Generalized muscle weakness | Hearing impairment | Hepatomegaly | Hypertrophic cardiomyopathy | Hyporeflexia | Hypotonia | Increased muscle glycogen content | Intellectual disability | Left ventricular hypertrophy | Limb muscle weakness | Low-output congestive heart failure | Macroglossia | Motor delay | Muscle weakness | Nonimmune hydrops fetalis | Oligosacchariduria | Pleural effusion | Proximal muscle weakness | Recurrent respiratory infections | Respiratory distress | Respiratory failure | Respiratory failure requiring assisted ventilation | Respiratory insufficiency | Respiratory insufficiency due to muscle weakness | Respiratory tract infection | Shortened PR interval | Sinus tachycardia | Splenomegaly | Subarachnoid hemorrhage | Tongue muscle weakness | Urinary incontinence | Wolff-Parkinson-White syndrome | Young adult onset" ], "symptoms_ja_list": [ "Wolff-Parkinson-White 症候群 | オリゴ糖尿 | クモ膜下出血 | 乳児筋性筋緊張低下 | 低拍出性うっ血性心不全 | 全身性筋虚弱 | 反射低下 | 反復性呼吸器感染症 | 呼吸不全 | 呼吸器感染 | 呼吸困難 | 呼吸窮迫 | 四肢筋虚弱 | 大脳動脈瘤 | 左室肥大 | 巨舌 | 常染色体潜性遺伝 | 心拡大 | 成長障害 (成長不全) | 横隔膜麻痺 | 歩行障害 | 洞性頻拍 | 無反射 | 異常な中枢神経髄鞘形成 | 発熱 | 知的障害 | 短い PR 間隔 | 硬い筋 | 筋グリコーゲン量増加 | 筋緊張低下 | 筋虚弱 | 筋虚弱による呼吸不全 | 肝腫 | 肥大型心筋症 | 胸膜滲出液 | 脾腫 | 舌運動障害 | 血清 creatine phosphokinase上昇 | 補助換気が必要な呼吸不全 | 近位筋虚弱 | 運動不耐症 | 運動発達遅滞 | 遺尿 | 階段の登り困難 | 難聴 | 非免疫性胎児水腫 | 顔面筋緊張低下 | 食餌摂取障害 in infancy | 高度/補酵素活性異常" ] }, { "id": "NANDO:2201206", "label_en": "Niemann-Pick disease type A", "label_ja": "ニーマン・ピック病A型", "yomigana": "にーまん・ぴっくびょうえーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201206", "notificationNumber": "122", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Ascites | Athetosis | Autosomal recessive inheritance | Bone-marrow foam cells | Cherry red spot of the macula | Constipation | Delayed CNS myelination | Developmental regression | Diffuse reticular or finely nodular infiltrations | Failure to thrive | Feeding difficulties in infancy | Foam cells with lamellar inclusion bodies | Global developmental delay | Hepatomegaly | Hyporeflexia | Hypotonia | Inability to walk | Infantile onset | Intellectual disability | Irritability | Lymphadenopathy | Macrocephaly | Microcytic anemia | Muscle weakness | Osteoporosis | Prolonged neonatal jaundice | Protuberant abdomen | Recurrent respiratory infections | Rigidity | Sea-blue histiocytosis | Short stature | Skeletal muscle atrophy | Spasticity | Splenomegaly | Vomiting | Xanthomatosis" ], "symptoms_ja_list": [ "びまん性網状または微細結節性浸潤 | アテトーゼ | リンパ節腫大 | 中枢神経髄鞘形成遅延 | 低身長 | 便秘 | 全般性発達遅滞 | 反射低下 | 反復性呼吸器感染症 | 嘔吐 | 大頭 | 小球性貧血 | 層状封入体を伴う泡沫細胞 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 歩行不能 | 海青組織球症 | 痙性 | 発達退行 | 知的障害 | 硬直 | 筋緊張低下 | 筋萎縮 | 筋虚弱 | 肝腫 | 脾腫 | 腹水 | 腹部突出 | 被刺激性 | 遷延性新生児黄疸 | 食餌摂取障害 in infancy | 骨粗鬆症 | 骨髄泡沫細胞 | 黄斑のチェリーレッド斑 | 黄色腫症" ] }, { "id": "NANDO:2200312", "label_en": "Congenital hypopituitarism", "label_ja": "先天性下垂体機能低下症", "yomigana": "せんてんせいかすいたいきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200312", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100110", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200298", "label_en": "Atypical aplastic anemia", "label_ja": "特殊型再生不良性貧血", "yomigana": "とくしゅがたさいせいふりょうせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_1200298", "notificationNumber": "60", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200377", "label_en": "Gonadotropin-dependent precocious puberty", "label_ja": "ゴナドトロピン依存性思春期早発症", "yomigana": "ごなどとろぴんいぞんせいししゅんきそうはつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200377", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100135", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200116", "label_en": "Denys-Drash syndrome", "label_ja": "Denys-Drash症候群", "yomigana": "でにすどらっしゅしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200116", "notificationNumber": "28", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [ "Ambiguous genitalia", "female | Ambiguous genitalia", "male | Autosomal dominant inheritance | Congenital diaphragmatic hernia | Diffuse mesangial sclerosis | Enlarged kidney | Epicanthus | Focal segmental glomerulosclerosis | Gonadal dysgenesis | Gonadal tissue inappropriate for external genitalia or chromosomal sex | Hypertension | Male pseudohermaphroditism | Neonatal death | Neonatal respiratory distress | Nephroblastoma | Nephropathy | Nephrotic syndrome | Ovarian gonadoblastoma | Proteinuria | Septate vagina | Stage 5 chronic kidney disease | True hermaphroditism | Typified by somatic mosaicism | Uterus didelphys | Wide anterior fontanel" ], "symptoms_ja_list": [ "びまん性メサンギウム硬化症 | ステージ5慢性腎疾患 | ネフローゼ症候群 | 体細胞モザイク | 先天性横隔膜ヘルニア | 内眼角贅皮 | 卵巣生殖腺芽細胞腫 | 外性器または染色体の性に一致しない性腺組織 | 巣状分節性糸球体硬化症 | 常染色体顕性遺伝 | 幅広い大泉門 | 性別不明の外性器", "女性 | 性別不明の外性器", "男性 | 性腺異発生 | 新生児呼吸窮迫 | 男性仮性半陰陽 | 真性半陰陽 | 腎拡大 | 腎症 | 腎芽腫 (Wilms 腫瘍) | 膣中隔 | 蛋白尿 | 重複子宮 | 高血圧" ] }, { "id": "NANDO:2201446", "label_en": "Familial partial lipodystrophy", "label_ja": "先天性部分性脂肪萎縮症", "yomigana": "せんてんせいぶぶんせいしぼういしゅくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201446", "notificationNumber": "39", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100147", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201166", "label_en": "Glycogen storage disease type IXc", "label_ja": "糖原病IXc型", "yomigana": "とうげんびょう9しーがた", "url": "http://nanbyodata.jp/ontology/NANDO_2201166", "notificationNumber": "69", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Autosomal recessive inheritance | Bile duct proliferation | Childhood onset | Cirrhosis | Elevated circulating hepatic transaminase concentration | Fasting hypoglycemia | Growth delay | Hepatomegaly | Hypertriglyceridemia | Hypoglycemia | Hypotonia | Increased circulating lactate concentration | Increased hepatic glycogen content | Infantile onset | Juvenile onset | Ketosis | Lactic acidosis | Motor delay | Postnatal growth retardation | Splenomegaly" ], "symptoms_ja_list": [ "ケトン症 | 乳酸性アシドーシス | 低血糖 | 常染色体潜性遺伝 | 成長遅滞 | 生後の成長遅滞 | 空腹時低血糖 | 筋緊張低下 | 肝グリコーゲン量増加 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝腫 | 胆管増殖 | 脾腫 | 血清乳酸増加 | 運動発達遅滞 | 高トリグリセリド血症" ] }, { "id": "NANDO:2201386", "label_en": "Autosomal dominant tubulointerstitial kidney disease", "label_ja": "常染色体優性尿細管間質性腎疾患", "yomigana": "じょうせんしょくたいゆうせいにょうさいかんかんしつせいじんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2201386", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100298", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201142", "label_en": "Late-onset very-long-chain acyl-CoA dehydrogenase deficiency", "label_ja": "遅発型極長鎖アシルCoA脱水素酵素欠損症", "yomigana": "ちはつがたごくちょうさあしるこえーだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201142", "notificationNumber": "43", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201185", "label_en": "Mucopolysaccharidosis type VII, intermediate form", "label_ja": "中間型ムコ多糖症VII型", "yomigana": "ちゅうかんがたむこたとうしょう7がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201185", "notificationNumber": "134", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200607", "label_en": "Tuberous sclerosis complex", "label_ja": "結節性硬化症", "yomigana": "けっせつせいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200607", "notificationNumber": "158", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal social behavior | Abnormality of the kidney | Aggressive behavior | Angiofibromas | Anxiety | Aortic aneurysm | Attention deficit hyperactivity disorder | Atypical behavior | Autism | Autistic behavior | Carcinoid tumor | Cardiac rhabdomyoma | Chronic kidney disease | Confetti-like hypopigmented macules | Cortical dysplasia | Cortical tubers | Depression | Epidermoid cyst | Epileptic spasm | Focal-onset seizure | Generalized abnormality of skin | Hemoptysis | Hepatic cysts | Hyperactivity | Hypertension | Hypomelanotic macule | Impulsivity | Infantile spasms | Intellectual disability | Internal hemorrhage | Neurodevelopmental delay | Noncommunicating hydrocephalus | Parathyroid adenoma | Parathyroid hyperplasia | Pheochromocytoma | Pituitary adenoma | Polycystic kidney dysplasia | Poor speech | Pulmonary lymphangiomyomatosis | Renal angiomyolipoma | Renal cell carcinoma | Renal cyst | Renal insufficiency | Repetitive compulsive behavior | Respiratory distress | Respiratory failure | Respiratory tract infection | Retinal astrocytic hamartoma | Retinal hamartoma | Seizure | Self-injurious behavior | Shagreen patch | Skin plaque | Sleep disturbance | Specific learning disability | Stage 5 chronic kidney disease | Status epilepticus | Subependymal giant-cell astrocytoma | Subependymal nodules | Ungual fibroma" ], "symptoms_ja_list": [ "Confetti 様低色素斑 | うつ | てんかん性スパスム | てんかん重積 | カルチノイド | ステージ5慢性腎疾患 | メラニン減少性斑 | 上衣下巨細胞星状細胞腫 | 上衣下結節 | 下垂体腺腫 | 不安 | 乳児スパスム | 全身性皮膚異常 | 内出血 | 副甲状腺腺腫 | 副甲状腺過形成 | 反復性強迫行動 | 呼吸不全 | 呼吸器感染 | 呼吸窮迫 | 喀血 | 多動 | 多嚢胞性腎異形成 | 大動脈瘤 | 心平滑筋腫 | 慢性腎疾患 | 攻撃的行動 | 注意力欠陥多動性疾患 | 焦点性発作 | 爪線維腫 線維腫 | 特異的学習障害 | 異常な社会的行動 | 発作 | 発語不全 | 皮膚局面 | 皮質異形成 | 皮質結節 | 睡眠障害 | 知的障害 | 神経発生遅延 | 粒起革(なめし革)様斑 | 網膜星状細胞過誤腫 | 網膜過誤腫 | 肝膿瘍 | 肺リンパ管筋腫症 | 腎不全 | 腎嚢胞 | 腎異常 | 腎細胞癌 | 腎血管筋脂肪腫 | 自傷行動 | 自閉性行動 | 自閉症 | 血管線維腫 | 行動異常 | 衝動性 | 褐色細胞腫 | 非交通性水頭症 | 類表皮嚢胞 | 高血圧" ] }, { "id": "NANDO:2201361", "label_en": "Greenberg dysplasia", "label_ja": "Greenberg骨異形成症", "yomigana": "ぐりーんばーぐこついけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201361", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "11 pairs of ribs | Abnormal bone ossification | Abnormal leukocyte morphology | Abnormal lung lobation | Abnormal pelvis bone ossification | Abnormal scapula morphology | Abnormal vertebral body morphology | Abnormally ossified vertebrae | Absent or minimally ossified vertebral bodies | Anterior rib punctate calcifications | Aplasia of distal finger phalanx | Autosomal recessive inheritance | Barrel-shaped chest | Bone marrow hypocellularity | Brachydactyly | Broad palm | Calvarial skull defect | Cartilaginous ossification of larynx | Costal cartilage calcification | Cystic hygroma | Decreased skull ossification | Depressed nasal bridge | Depressed nasal ridge | Diaphyseal undertubulation | Disproportionate short-limb short stature | Echogenic fetal bowel | Ectopic calcification | Ectopic ossification | Epiphyseal stippling | Fetal onset | Flared metaphysis | Hepatic calcification | Hepatomegaly | Hepatosplenomegaly | High forehead | Horizontal sacrum | Hydrops fetalis | Hypertelorism | Hypoplasia of the calcaneus | Hypoplasia of the maxilla | Hypoplastic vertebral bodies | Increased nuchal translucency | Large placenta | Laryngeal calcification | Lethal skeletal dysplasia | Long clavicle | Low-set ears | Lymphedema | Macrocephaly | Mesomelia | Metaphyseal cupping | Micrognathia | Micromelia | Midface retrusion | Multiple prenatal fractures | Multiple rib fractures | Narrow chest | Neonatal death | Nonimmune hydrops fetalis | Pancreatic islet-cell hyperplasia | Patchy variation in bone mineral density | Platyspondyly | Polyhydramnios | Postaxial foot polydactyly | Postaxial hand polydactyly | Preeclampsia | Prominent supraorbital ridges | Protuberant abdomen | Pulmonary hypoplasia | Punctate vertebral calcifications | Recurrent fractures | Retrognathia | Rhizomelia | Sclerosis of skull base | Severe short-limb dwarfism | Short finger | Short long bone | Short metacarpal | Short phalanx of finger | Short ribs | Sternal punctate calcifications | Stillbirth | Supernumerary vertebral ossification centers | Talipes | Thoracic hypoplasia | Toxemia of pregnancy | Tracheal calcification | Ulnar deviation of the hand" ], "symptoms_ja_list": [ "11 対肋骨 | エコー源性胎児腸 | リンパ性浮腫 | 上顎低形成 | 下顎後退 | 不均衡型短肢低身長 | 両眼隔離 | 事後性多趾症 | 前部肋骨点状石灰化 | 副脊椎骨化中心 | 反復性骨折 | 喉頭石灰化 | 喉頭軟骨骨化 | 四肢中部短縮 | 四肢近位短縮 | 多発性出生前骨折 | 多発性肋骨骨折 | 大きな骨盤 | 大頭 | 妊娠中毒症 | 子癇前症 | 小肢症 | 小顎 | 尖足 | 常染色体潜性遺伝 | 幅広い手掌 | 扁平脊椎 | 手の尺側偏位 | 指の末節骨無形成 | 椎体骨低形成 | 椎体骨形態異常 | 椎体骨骨化欠損または最小骨化 | 樽状胸 | 気管石灰化 | 水平仙骨 | 水滑性嚢腫 | 狭い胸郭 | 異所性石灰化 | 異所性骨化 | 白血球の異常 | 目立つ眼窩上縁 | 短い中手骨 | 短い指 | 短い指骨 | 短い肋骨 | 短い長管骨 | 短指症候群 | 羊水過多 | 耳介低位 | 肋軟骨石灰化 | 肝石灰化 | 肝脾腫 | 肝腫 | 肩甲骨の異常 | 肺低形成 | 肺分葉の異常 | 胎児水腫 | 胸郭低形成 | 胸骨の点状石灰化 | 脊椎点状石灰化 | 脊椎骨骨化異常 | 腹部突出 | 膵頭部細胞過形成 | 致死性骨格異形成 | 落ちくぼんだ鼻梁 | 踵骨低形成 | 軸後性多指症 | 重度の短肢小人症 | 長い鎖骨 | 非免疫性胎児水腫 | 項部透過性増加 | 頭蓋底硬化症 | 頭蓋骨欠損t | 頭蓋骨骨化減少 | 顔面中部後退 | 骨の骨化異常 | 骨ミネラル濃度の斑状バリエーション | 骨幹の肥厚 | 骨幹端カッピング | 骨幹端フレア | 骨盤骨骨化異常 | 骨端点状石灰化 | 骨髄細胞数増多 | 高い額" ] }, { "id": "NANDO:2201007", "label_en": "Toxic epidermal necrolysis", "label_ja": "中毒性表皮壊死症", "yomigana": "ちゅうどくせいひょうひえししょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201007", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100290", "symptoms_en_list": [ "Abdominal distention | Abnormal blistering of the skin | Abnormal penis morphology | Abnormality of the anus | Abnormality of the larynx | Abnormality of the pharynx | Acantholysis | Acute kidney injury | Anemia | Anonychia | Anorexia | Anterior uveitis | Anxiety | Atypical scarring of skin | Blindness | Chemosis | Chronic lung disease | Conjunctivitis | Corneal erosion | Cough | Decreased total neutrophil count | Depression | Diarrhea | Dysuria | Elevated circulating hepatic transaminase concentration | Fatigue | Fever | Gastrointestinal inflammation | Generalized abnormality of skin | Headache | Hematuria | Hyperpigmentation of the skin | Hypopigmentation of the skin | Inflammatory abnormality of the skin | Keratitis | Keratoconjunctivitis sicca | Moderate albuminuria | Myalgia | Nail dystrophy | Oral mucosal blisters | Oral synechia | Oral-pharyngeal dysphagia | Photophobia | Pneumonia | Renal tubular epithelial necrosis | Respiratory distress | Respiratory failure requiring assisted ventilation | Rhinitis | Sepsis | Skin rash | Skin ulcer | Trichiasis | Visual loss | Xerostomia" ], "symptoms_ja_list": [ "うつ | 下痢 | 不安 | 乾燥性 | 全身性皮膚異常 | 前部ブドウ膜炎 | 口内乾燥症 | 口腔咽頭嚥下障害 | 口腔癒着 | 口腔粘膜水泡 | 呼吸窮迫 | 咽頭の異常 | 喉頭の異常 | 外層 | 好中球減少症 | 微量アルブミン尿 | 急性尿細管壊死 | 急性腎外傷 | 慢性肺疾患 | 排尿障害 | 敗血症 | 有棘細胞解離 | 無爪症 | 爪ジストロフィー | 異常な皮膚水泡 | 疲労 | 発熱 | 皮膚の炎症性異常 | 皮膚低色素 | 皮膚潰瘍 | 皮膚発疹 | 皮膚高色素 | 盲 | 睫毛乱生 | 筋痛 | 結膜浮腫 | 結膜炎 | 羞明 | 肛門の異常 | 肝トランスアミナーゼ上昇 | 肺炎 | 胃腸炎症 | 腹部膨満 | 血尿 | 補助換気が必要な呼吸不全 | 視力喪失 | 角膜びらん | 角膜炎 | 貧血 | 陰茎異常 | 非典型的皮膚瘢痕 | 頭痛 | 食思不振 | 鼻炎" ] }, { "id": "NANDO:1200821", "label_en": "Holocarboxylase synthetase deficiency", "label_ja": "ホロカルボキシラーゼ合成酵素欠損症", "yomigana": "ほろかるぼきしらーぜごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200821", "notificationNumber": "255", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Alopecia | Anorexia | Ataxia | Autosomal recessive inheritance | Coma | Desquamation of skin soon after birth | Eczematoid dermatitis | Feeding difficulties in infancy | Generalized hypotonia | Global developmental delay | Growth delay | Hyperammonemia | Hypertonia | Hyperventilation | Hypotonia | Irritability | Keratoconjunctivitis | Lactic acidosis | Lethargy | Metabolic acidosis | Nausea and vomiting | Neonatal onset | Organic aciduria | Perioral eczema | Respiratory distress | Seizure | Skin rash | Tachypnea | Thrombocytopenia | Vomiting | Weight loss" ], "symptoms_ja_list": [ "乳酸性アシドーシス | 代謝性アシドーシス | 体重喪失 | 全般性発達遅滞 | 全身性筋緊張低下 | 口周囲湿疹 | 吐気と 嘔吐 | 呼吸窮迫 | 嘔吐 | 多呼吸 | 多換気 | 常染色体潜性遺伝 | 成長遅滞 | 昏睡 | 有機酸尿 | 湿疹 | 無気力 | 生後すぐの皮膚落屑 | 発作 | 皮膚発疹 | 禿頭 | 筋緊張亢進 | 筋緊張低下 | 血小板減少 | 被刺激性 | 角結膜炎 | 運動失調 | 食思不振 | 食餌摂取障害 in infancy | 高アンモニア血症" ] }, { "id": "NANDO:2200141", "label_en": "Renovascular hypertension", "label_ja": "腎血管性高血圧", "yomigana": "じんけっかんせいこうけつあつ", "url": "http://nanbyodata.jp/ontology/NANDO_2200141", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100016", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200853", "label_en": "Sitosterolemia", "label_ja": "シトステロール血症", "yomigana": "しとすてろーるけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200853", "notificationNumber": "260", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Aortic valve stenosis | Arthralgia | Arthralgia/arthritis | Elevated circulating hepatic transaminase concentration | Giant platelets | Hemolytic anemia | Hypercholesterolemia | Premature coronary artery atherosclerosis | Splenomegaly | Stomatocytosis | Xanthomatosis" ], "symptoms_ja_list": [ "ストマトサイト増多症 | 大動脈弁狭窄 | 巨大血小板 | 早発性冠動脈疾患 | 溶血性貧血 | 肝トランスアミナーゼ上昇 | 脾腫 | 関節痛 | 関節痛/関節炎 | 高コレステロール血症 | 黄色腫症" ] }, { "id": "NANDO:1200876", "label_en": "Thanatophoric dysplasia type 2", "label_ja": "タナトフォリック骨異形成症2型", "yomigana": "たなとふぉりっくこついけいせいしょう2がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200876", "notificationNumber": "275", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100008", "symptoms_en_list": [ "Abnormal metaphysis morphology | Abnormality of neuronal migration | Abnormality of the kidney | Acanthosis nigricans | Aplasia/Hypoplasia of the lungs | Atrial septal defect | Autosomal dominant inheritance | Brachydactyly | Cerebellar hypoplasia | Cloverleaf skull | Cognitive impairment | Decreased fetal movement | Depressed nasal bridge | Encephalocele | Flared metaphysis | Flat face | Frontal bossing | Hearing impairment | Holoprosencephaly | Hydrocephalus | Hypoplastic ilia | Hypotonia | Increased nuchal translucency | Joint hypermobility | Kyphosis | Lethal short-limbed short stature | Limitation of joint mobility | Macrocephaly | Metaphyseal irregularity | Micromelia | Narrow chest | Neonatal death | Patent ductus arteriosus | Platyspondyly | Polyhydramnios | Proptosis | Redundant skin | Respiratory insufficiency | Seizure | Short greater sciatic notch | Short ribs | Short stature | Short thorax | Skeletal dysplasia | Small abnormally formed scapulae | Small face | Small foramen magnum | Ventriculomegaly | Wide-cupped costochondral junctions" ], "symptoms_ja_list": [ "クローバー型頭蓋骨 | ニューロン移動の異常 | 低身長 | 全前脳胞症 | 前頭突出", "額突出 | 動脈管開存症 | 呼吸不全 | 大頭 | 小さい仙腸骨切痕 | 小さい大孔 | 小さい顔 | 小さな異常形成された肩甲骨 | 小肢症 | 小脳低形成 | 常染色体顕性遺伝 | 幅広い-杯状の肋軟骨接合部 | 平坦な顔 | 後弯 | 心房中隔欠損 | 扁平脊椎 | 水頭症 | 狭い胸郭 | 発作 | 眼球突出 | 短い肋骨 | 短い胸郭 | 短指症候群 | 筋緊張低下 | 羊水過多 | 肺無形成/低形成 | 胎動減少 | 脳室拡大 | 脳瘤 | 腎異常 | 腸骨低形成 | 致死性短肢低身長 | 落ちくぼんだ鼻梁 | 認知障害 | 過剰な皮膚 | 関節運動制限 | 関節過動 | 難聴 | 項部透過性増加 | 骨幹端の異常 | 骨幹端フレア | 骨幹端不規則性 | 骨格異形成 | 黒色表皮腫" ] }, { "id": "NANDO:2201451", "label_en": "Type 4 total anomalous pulmonary venous connection", "label_ja": "総肺静脈還流異常症IV型", "yomigana": "そうはいじょうみゃくかんりゅういじょうしょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201451", "notificationNumber": "77", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100088", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201176", "label_en": "Mucopolysaccharidosis type III C", "label_ja": "C型ムコ多糖症III型", "yomigana": "しーがたむこたとうしょう3がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201176", "notificationNumber": "131", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Asymmetric septal hypertrophy | Autosomal recessive inheritance | Beaking of vertebral bodies | Cellular metachromasia | Childhood onset | Coarse facial features | Coarse hair | Dense calvaria | Diarrhea | Dolichocephaly | Dysostosis multiplex | Dysphagia | Everted lower lip vermilion | Global developmental delay | Growth abnormality | Hearing impairment | Heparan sulfate excretion in urine | Hepatomegaly | Hernia | Hirsutism | Hyperactivity | Hypertrichosis | Intellectual disability | Joint stiffness | Juvenile onset | Kyphoscoliosis | Loss of speech | Motor delay | Motor deterioration | Ovoid thoracolumbar vertebrae | Recurrent upper respiratory tract infections | Rod-cone dystrophy | Seizure | Sleep disturbance | Splenomegaly | Synophrys | Thickened ribs" ], "symptoms_ja_list": [ "くちばし状椎体骨 | ヘルニア | 下口唇唇紅部外反 | 下痢 | 全般性発達遅滞 | 卵形胸腰椎 | 反復性上気道感染症 | 嚥下障害 | 多動 | 多毛 | 多毛症 | 多発性異骨症 | 尿中硫酸ヘパラン排泄 | 常染色体潜性遺伝 | 後側弯 | 成長異常 | 濃い頭蓋冠 | 発作 | 発語喪失 | 睡眠障害 | 知的障害 | 粗い毛髪 | 粗な顔貌 | 細胞異染性 | 肋骨肥厚 | 肝腫 | 脾腫 | 色素性網膜炎 | 連続眉毛 | 運動発達悪化 | 運動発達遅滞 | 長頭 | 関節拘縮 | 難聴 | 非対称性中隔肥大" ] }, { "id": "NANDO:2100160", "label_en": "Disorder of amino acid metabolism", "label_ja": "アミノ酸代謝異常症", "yomigana": "あみのさんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100160", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100159", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201176", "label_en": "Hereditary apolipoprotein C-II amyloidosis", "label_ja": "遺伝性アポリポ蛋白 C-II アミロイドーシス", "yomigana": "いでんせいあぽりぽたんぱくしー2あみろいどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1201176", "notificationNumber": "28", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200542", "label_en": "Glycogen storage disease type VI", "label_ja": "糖原病VI型", "yomigana": "とうげんびょう6がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200542", "notificationNumber": "67", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abdominal distention | Abnormality of the kidney | Autosomal recessive inheritance | Cirrhosis | Delayed puberty | Elevated circulating hepatic transaminase concentration | Exercise-induced muscle cramps | Failure to thrive | Failure to thrive in infancy | Growth delay | Hepatic fibrosis | Hepatocellular carcinoma | Hepatomegaly | Hypercholesterolemia | Hyperlipidemia | Hypertriglyceridemia | Hypertrophic cardiomyopathy | Hypoglycemia | Hypotonia | Increased hepatic glycogen content | Intermittent lactic acidemia | Irritability | Ketosis | Motor delay | Osteopenia | Osteoporosis | Portal fibrosis | Postnatal growth retardation | Postprandial hyperlactemia | Proteinuria | Short stature | Sleep disturbance" ], "symptoms_ja_list": [ "ケトン症 | 乳児期の成長障害 (成長不全) | 低血糖 | 低身長 | 常染色体潜性遺伝 | 思春期遅発 | 成長遅滞 | 成長障害 (成長不全) | 生後の成長遅滞 | 睡眠障害 | 筋緊張低下 | 肝グリコーゲン量増加 | 肝トランスアミナーゼ上昇 | 肝硬変 | 肝細胞癌 | 肝線維症 | 肝腫 | 肥大型心筋症 | 腎異常 | 腹部膨満 | 蛋白尿 | 被刺激性 | 運動発達遅滞 | 運動誘発性筋けいれん | 門脈線維症 | 間歇的乳酸性酸血症 | 食後高乳酸血症 | 骨減少症 | 骨粗鬆症 | 高コレステロール血症 | 高トリグリセリド血症 | 高脂血症" ] }, { "id": "NANDO:2200522", "label_en": "Mitochondrial respiratory chain disorders", "label_ja": "ミトコンドリア呼吸鎖複合体欠損症", "yomigana": "みとこんどりあこきゅうさふくごうたいけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200522", "notificationNumber": "89", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100163", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200950", "label_en": "Persistent cloaca", "label_ja": "総排泄腔遺残", "yomigana": "そうはいせつくういざん", "url": "http://nanbyodata.jp/ontology/NANDO_2200950", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100277", "symptoms_en_list": [ "Abnormal clitoris morphology | Abnormal fallopian tube morphology | Abnormal fibula morphology | Abnormal tibia morphology | Absent foot | Anal atresia | Bladder exstrophy | Cloacal exstrophy | Ectopic kidney | Hemivertebrae | Hip dislocation | Horseshoe kidney | Hydroureter | Hypoplasia of penis | Intestinal duplication | Intestinal malrotation | Myelomeningocele | Omphalocele | Renal hypoplasia/aplasia | Spina bifida | Talipes equinovarus | Ureterocele | Ureteropelvic junction obstruction | Vesicoureteral reflux" ], "symptoms_ja_list": [ "二分脊椎 | 内反尖足 | 半脊椎 | 卵管異常 | 尿管瘤 | 尿管腎盂接合部閉塞 | 水尿管症 | 異所性腎 | 総排泄腔外反 | 股関節脱臼 | 脊髄髄膜瘤 | 脛骨の異常 | 腎低形成/無形成 | 腓骨の異常 | 腸回転異常 | 腸重複 | 膀胱外反症 | 膀胱尿管逆流 | 臍帯ヘルニア | 足欠損 | 鎖肛 | 陰核異常 | 陰茎低形成 | 馬蹄腎" ] }, { "id": "NANDO:1201047", "label_en": "Progressive familial intrahepatic cholestasis type 5", "label_ja": "進行性家族性肝内胆汁うっ滞症5型", "yomigana": "しんこうせいかぞくせいかんないたんじゅううったいしょう5がた", "url": "http://nanbyodata.jp/ontology/NANDO_1201047", "notificationNumber": "338", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Ascites | Autosomal recessive inheritance | Cirrhosis | Congenital onset | Conjugated hyperbilirubinemia | Death in infancy | Elevated circulating alpha-fetoprotein concentration | Failure to thrive | Hepatic failure | Hyperammonemia | Hypoglycemia | Infantile onset | Jaundice | Neonatal onset | Nonimmune hydrops fetalis | Pleural effusion | Prolonged prothrombin time | Rapidly progressive" ], "symptoms_ja_list": [ "α-フェトプロテイン上昇 | プロトロンビン時間遷延 | 低血糖 | 常染色体潜性遺伝 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 肝不全 | 肝硬変 | 胸膜滲出液 | 腹水 | 非免疫性胎児水腫 | 高アンモニア血症 | 黄疸" ] }, { "id": "NANDO:2200843", "label_en": "Non-syndromic craniosynostosis", "label_ja": "非症候性頭蓋骨縫合早期癒合症", "yomigana": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200843", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100227", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200151", "label_en": "Chronic renal failure due to renal ischemias", "label_ja": "慢性腎不全（腎虚血によるものに限る。）", "yomigana": "まんせいじんふぜん（じんきょけつによるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200151", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100023", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201501", "label_en": "Focal cortical dysplasia type 1c", "label_ja": "限局性皮質異形成タイプ1c", "yomigana": "げんきょくせいひしついけいせいたいぷ1しー", "url": "http://nanbyodata.jp/ontology/NANDO_2201501", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100030", "label_en": "Airway obstruction and stenosis", "label_ja": "気道狭窄", "yomigana": "きどうきょうさく", "url": "http://nanbyodata.jp/ontology/NANDO_2100030", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200650", "label_en": "Thrombocytopenia due to hypersplenism", "label_ja": "血小板減少症（脾機能亢進症によるものに限る。）", "yomigana": "けっしょうばんげんしょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200650", "notificationNumber": "15", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100190", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200999", "label_en": "Idiopathic thrombosis (due to inherited predisposition to thrombosis) (neonates, infants)", "label_ja": "特発性血栓症", "yomigana": "とくはつせいけっせんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200999", "notificationNumber": "327", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200147", "label_en": "Infantile free sialic acid storage disease", "label_ja": "乳児型遊離シアル酸蓄積症", "yomigana": "にゅうじがたゆうりしあるさんちくせきしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200147", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal foot morphology | Abnormal thorax morphology | Anteverted nares | Ascites | Autosomal recessive inheritance | Cardiomegaly | Cerebral atrophy | Coarse facial features | Congestive heart failure | Conjugated hyperbilirubinemia | Death in childhood | Epicanthus | Failure to thrive | Fair hair | Generalized hypotonia | Gingival overgrowth | Global developmental delay | Hepatomegaly | High palate | Hydrocephalus | Hydrops fetalis | Hypopigmentation of the skin | Hypotonia | J-shaped sella turcica | Metaphyseal irregularity | Nephrotic syndrome | Nystagmus | Osteopenia | Premature birth | Ptosis | Seizure | Splenomegaly | Vacuolated lymphocytes" ], "symptoms_ja_list": [ "J字型トルコ鞍 | うっ血性心不全 | ネフローゼ症候群 | 上向きの鼻孔 | 全般性発達遅滞 | 全身性筋緊張低下 | 内眼角贅皮 | 大脳萎縮 | 常染色体潜性遺伝 | 心拡大 | 成長障害 (成長不全) | 抱合型高ビリルビン血症 | 早産 | 歯肉過成長 | 水頭症 | 発作 | 皮膚低色素 | 眼振 | 眼瞼下垂 | 空胞化リンパ球 | 筋緊張低下 | 粗な顔貌 | 肝腫 | 胎児水腫 | 胸郭の異常 | 脾腫 | 腹水 | 足の異常 | 金髪 | 骨幹端不規則性 | 骨減少症 | 高口蓋" ] }, { "id": "NANDO:1200627", "label_en": "Trichothiodystrophy", "label_ja": "硫黄欠乏性毛髪発育異常症", "yomigana": "いおうけつぼうせいもうはつはついくいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200627", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal pyramidal sign | Abnormality of prenatal development or birth | Absence of subcutaneous fat | Alopecia of scalp | Anemia | Aplasia/Hypoplasia of the nails | Astigmatism | Bilateral microphthalmos | Bilateral sensorineural hearing impairment | Bird-like facies | Brittle hair | Cardiomyopathy | Carious teeth | Cerebral cortical atrophy | Cerebral dysmyelination | Clubbing | Coarse facial features | Concave nail | Congenital exfoliative erythroderma | Conjunctivitis | Craniosynostosis | Cryptorchidism | Cutaneous photosensitivity | Decreased total neutrophil count | Defective DNA repair after ultraviolet radiation damage | Delayed skeletal maturation | Developmental cataract | Diffuse cerebellar atrophy | Dry skin | Dysarthria | Dysphonia | Dystrophic fingernails | Ectropion | Eczematoid dermatitis | Enamel hypoplasia | Epicanthus | Esotropia | Fragile nails | Gait ataxia | Generalized hyperreflexia | Generalized hypotonia | Generalized-onset seizure | Global developmental delay | Gonadal dysgenesis | High", "narrow palate | Hypertelorism | Hypertonia | Hyporeflexia | Hypotelorism | Ichthyosis | Increased bone mineral density | Intention tremor | Intrauterine growth retardation | Joint dislocation | Keratoconjunctivitis sicca | Low-set nipples | Macular degeneration | Microcephaly | Microcornea | Multiple joint contractures | Myopia | Numerous pigmented freckles | Nystagmus | Osteopenia | Panhypogammaglobulinemia | Paraplegia/paraparesis | Partial agenesis of the corpus callosum | Peripheral neuropathy | Periventricular leukomalacia | Photophobia | Prematurely aged appearance | Protruding ear | Recurrent bronchopulmonary infections | Recurrent infections | Reduced social responsiveness | Retinal degeneration | Retrognathia | Ridged nail | Sparse scalp hair | Spasticity | Split nail | Squamous cell carcinoma | Strabismus | Thoracic kyphosis | Umbilical hernia | Ventricular septal defect | Ventriculomegaly" ], "symptoms_ja_list": [ "ばち状化 | びまん性小脳萎縮 | 下顎後退 | 不全麻痺/不全対麻痺 | 両側性小眼球 | 両側性感音難聴 | 両眼接近 | 両眼隔離 | 乱視 | 乾いた皮膚 | 乾燥性 | 亀裂爪 | 企図振戦 | 低位乳頭 | 停留精巣 | 先天性剥奪性紅皮症 | 先天性白内障 | 全般性発達遅滞 | 全身性反射亢進 | 全身性発作 | 全身性筋緊張低下 | 内斜視 | 内眼角贅皮 | 凹爪 | 出生前または出生時発達の異常 | 反射低下 | 反復性感染症 | 反復性気管支肺感染症 | 基底細胞癌 | 外反(眼瞼) | 多数の色素斑 | 多発性関節拘縮 | 大脳皮質萎縮 | 大脳髄鞘形成異常症 | 好中球減少症 | 子宮内成長遅滞 | 小角膜 | 小頭 | 心室中隔欠損 | 心筋症 | 性腺異発生 | 指爪ジストロフィー | 斜視 | 早老外観 | 末梢神経ニューロパチー | 構音障害 | 歩行失調 | 歯エナメル質低形成 | 汎低ガンマグロブリン血症 | 湿疹 | 爪無形成/低形成 | 疎な頭髪 | 痙性 | 発音障害 | 皮下脂肪の異常 | 皮膚光線過敏症 | 眼振 | 社会的相互関係障害 | 筋緊張亢進 | 粗な顔貌 | 紫外線照射障害後のDNA修復障害 | 結膜炎 | 網膜変性 | 羞明 | 耳介聳立 | 胸部後弯 | 脆い毛髪 | 脆い爪 nails | 脳室周囲白質軟化症 | 脳室拡大 | 脳梁の部分的無発生 | 臍ヘルニア | 貧血 | 近視 | 錐体路運動機能の異常 | 関節脱臼 | 隆起した爪 | 頭蓋合骨症 | 頭髪禿頭 | 骨ミネラル濃度の増加 | 骨格骨化遅延 | 骨減少症 | 高狭口蓋 | 魚鱗癬 | 鳥貌 | 黄斑変性 | 齲歯" ] }, { "id": "NANDO:2201060", "label_en": "Enthesitis-related juvenile idiopathic arthritis", "label_ja": "若年性特発性関節炎（付着部炎関連関節炎）", "yomigana": "じゃくねんせいとくはつせいかんせつえん（ふちゃくぶえんかんれんかんせつえん）", "url": "http://nanbyodata.jp/ontology/NANDO_2201060", "notificationNumber": "8", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100152", "symptoms_en_list": [ "Abnormal fascia morphology | Abnormal femoral neck/head morphology | Abnormal foot morphology | Abnormal heart morphology | Abnormal hip joint morphology | Abnormal lumbar spine morphology | Abnormal metacarpophalangeal joint morphology | Abnormal metatarsal morphology | Abnormal shoulder morphology | Abnormal skeletal morphology | Abnormal thoracic spine morphology | Abnormality of the ankle | Abnormality of the calcaneus | Abnormality of the cervical spine | Abnormality of the elbow | Abnormality of the vertebral column | Abnormality of the wrist | Anterior uveitis | Aortic regurgitation | Arthralgia | Arthritis | Back pain | Dilatation of the ventricular cavity | Enthesitis | Hip osteoarthritis | IgA deposition in the glomerulus | Knee osteoarthritis | Limited mobility of proximal interphalangeal joint | Mitral valve prolapse | Nongranulomatous uveitis | Sacroiliac arthritis | Thickened Achilles tendon" ], "symptoms_ja_list": [ "IgA 沈着 (糸球体) | アキレス腱肥厚 | 中手指節関節 (MP関節)の異常 | 中足骨の異常 | 仙腸関節炎 | 僧帽弁逸脱 | 前部ブドウ膜炎 | 大動脈逆流 | 大腿骨頸部および頭部領域の異常 | 心室瘤 | 心形態の異常 | 手関節の異常 | 筋膜の異常 | 肘異常 | 股関節異常 | 股関節骨関節炎 | 肩の異常 | 背部痛 | 胸椎の異常 | 脊柱の異常 | 腰椎の異常 | 腱付着部炎 | 膝骨関節炎 | 足の異常 | 足関節の異常 | 踵骨の異常 | 近位指間(IP)関節運動制限 | 関節炎 | 関節痛 | 非肉芽腫性ブドウ膜炎 | 頚椎の異常 | 骨格形態の異常" ] }, { "id": "NANDO:1200545", "label_en": "Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy", "label_ja": "皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症", "yomigana": "ひしつかこうそくとはくしつのうしょうをともなうじょうせんしょくたいゆうせいのうどうみゃくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200545", "notificationNumber": "124", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200670", "label_en": "Coffin-Siris syndrome", "label_ja": "コフィン・シリス症候群", "yomigana": "こふぃん・しりすしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200670", "notificationNumber": "185", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal facial shape | Abnormal heart morphology | Abnormality of the genitourinary system | Absent speech | Agenesis of corpus callosum | Aggressive behavior | Anteverted nares | Aspiration pneumonia | Atrial septal defect | Atypical behavior | Autistic behavior | Broad nasal tip | Broad philtrum | Coarse facial features | Cryptorchidism | Dandy-Walker malformation | Delayed eruption of teeth | Delayed skeletal maturation | Depressed nasal bridge | Feeding difficulties | Floppy infant | Growth delay | Hearing impairment | Hepatoblastoma | Hernia | Hirsutism | Horseshoe kidney | Hyperactivity | Hypertrichosis | Hypoplastic fifth fingernail | Hypoplastic fifth toenail | Hypospadias | Intrauterine growth retardation | Joint hypermobility | Low anterior hairline | Microcephaly | Moderate intellectual disability | Myopia | Oral aversion | Papillary thyroid carcinoma | Patent ductus arteriosus | Postnatal growth retardation | Prominent eyelashes | Ptosis | Recurrent infections | Recurrent upper respiratory tract infections | Scoliosis | Seizure | Severe intellectual disability | Short 5th finger | Short nose | Simplified gyral pattern | Small nail | Sparse scalp hair | Strabismus | Tetralogy of Fallot | Thick eyebrow | Thick lower lip vermilion | Thick nasal alae | Thin upper lip vermilion | Ventricular septal defect | Visual impairment | Wide mouth | Wide nasal base" ], "symptoms_ja_list": [ "Dandy-Walker 奇形 | Fallot 四徴症 | ヘルニア | 上向きの鼻孔 | 乳児筋性筋緊張低下 | 低い前部毛髪線 | 停留精巣 | 側弯 | 分厚い下口唇唇紅部 | 分厚い眉毛 | 分厚い鼻翼 | 動脈管開存症 | 反復性上気道感染症 | 反復性感染症 | 口嫌悪 | 多動 | 多毛 | 多毛症 | 子宮内成長遅滞 | 小さい爪 | 小頭 | 尿道下裂 | 幅広い人中 | 幅広い口 | 幅広い鼻基部 | 幅広い鼻尖 | 心室中隔欠損 | 心形態の異常 | 心房中隔欠損 | 成長遅滞 | 攻撃的行動 | 斜視 | 歯萠出遅延 | 泌尿生殖器異常 | 生後の成長遅滞 | 甲状腺乳頭癌 | 異常な顔の形 | 疎な頭髪 | 発作 | 発語欠損 | 皮質脳回単純化 | 目立つ睫毛 | 眼瞼下垂 | 知的障害", "中道動脈瘤 | 知的障害", "重度 | 短い第5指 | 短い鼻 | 第5指爪低形成 | 第5趾爪低形成 | 粗な顔貌 | 肝芽腫 | 脳梁無発生 of | 自閉性行動 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 行動異常 | 視力障害 | 誤嚥性肺炎 | 近視 | 関節過動 | 難聴 | 食餌摂取障害 | 馬蹄腎 | 骨格骨化遅延" ] }, { "id": "NANDO:2200113", "label_en": "Focal segmental glomerulosclerosis", "label_ja": "巣状分節性糸球体硬化症", "yomigana": "そうじょうぶんせつせいしきゅうたいこうかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200113", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100009", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201440", "label_en": "Eosinophilic gastroenteritis", "label_ja": "好酸球性胃腸炎", "yomigana": "こうさんきゅうせいいちょうえん", "url": "http://nanbyodata.jp/ontology/NANDO_2201440", "notificationNumber": "18", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100210", "symptoms_en_list": [ "Abdominal pain | Abnormality of the gastrointestinal tract | Allergic rhinitis | Anemia | Ascites | Asthma | Atopic dermatitis | Diarrhea | Dysphagia | Edema | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Hematochezia | Hypoalbuminemia | Increased total eosinophil count | Increased total leukocyte count | Malabsorption | Protein-losing enteropathy | Steatorrhea | Vomiting | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | アトピー性皮膚炎 | アレルギー性鼻炎 | タンパク漏出性腸症 | 下痢 | 体重喪失 | 吸収障害 | 喘息 | 嘔吐 | 嚥下障害 | 好酸球増多症 | 浮腫 | 白血球増多症 | 胃腸管の異常 | 脂肪便 | 腹水 | 腹痛 | 血便排泄 | 貧血 | 赤沈値上昇 | 高アルブミン血症" ] }, { "id": "NANDO:2200339", "label_en": "Drug-induced hypothyroidism", "label_ja": "薬剤性甲状腺機能低下症", "yomigana": "やくざいせいこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200339", "notificationNumber": "27", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100120", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200912", "label_en": "Infantile giant hepatic hemangiomas", "label_ja": "乳幼児肝巨大血管腫", "yomigana": "にゅうようじかんきょだいけっかんしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_1200912", "notificationNumber": "295", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200190", "label_en": "Laryngeal stenosis", "label_ja": "喉頭狭窄", "yomigana": "こうとうきょうさく", "url": "http://nanbyodata.jp/ontology/NANDO_2200190", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormality of the voice | Autosomal dominant inheritance | Laryngeal obstruction | Laryngeal web | Laryngomalacia | Recurrent respiratory infections | Respiratory insufficiency | Short stature" ], "symptoms_ja_list": [ "低身長 | 反復性呼吸器感染症 | 呼吸不全 | 喉頭ウェブ | 喉頭軟化症 | 喉頭閉塞 | 声の異常 | 常染色体顕性遺伝 | 循環器系の形態異常" ] }, { "id": "NANDO:1200638", "label_en": "Hermansky-Pudlak syndrome", "label_ja": "ヘルマンスキー・パドラック症候群", "yomigana": "へるまんすきー・ぱどらっくしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200638", "notificationNumber": "164", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abdominal pain | Abnormal bleeding | Abnormal dental enamel morphology | Abnormal optic nerve morphology | Abnormality of thrombocytes | Abnormality of visual evoked potentials | Amblyopia | Anorexia | Astigmatism | Basal cell carcinoma | Bruising susceptibility | Cardiomyopathy | Cataract | Decreased total neutrophil count | Dyspnea | Epistaxis | Fatigue | Gastrointestinal hemorrhage | Hyperkeratosis | Hypopigmentation of hair | Hypopigmentation of the skin | Immunodeficiency | Iris hypopigmentation | Long eyelashes | Malabsorption | Melanocytic nevus | Myopia | Nystagmus | Ocular albinism | Partial albinism | Photophobia | Pulmonary fibrosis | Renal insufficiency | Squamous cell carcinoma of the skin | Strabismus | Thickened skin | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "メラニン細胞母斑 | 乱視 | 体重喪失 | 免疫不全 | 出血傾向 | 分厚い皮膚 | 吸収障害 | 呼吸困難 | 基底細胞癌 | 好中球減少症 | 弱視 | 心筋症 | 斜視 | 歯エナメル質異常 | 毛髪低色素 | 異常な出血 | 疲労 | 白内障 | 皮膚低色素 | 皮膚基底細胞癌 | 眼振 | 眼白子症 | 羞明 | 肺線維症 | 胃腸出血 | 腎不全 | 腹痛 | 虹彩低色素 | 血小板の異常 | 視力障害 | 視神経の異常 | 視覚誘発電位の異常 | 近視 | 過角化症 | 部分白皮症 | 長い睫毛 | 食思不振 | 鼻出血" ] }, { "id": "NANDO:1200040", "label_en": "Autosomal dominant hereditary spinocerebellar degeneration", "label_ja": "常染色体優性遺伝性脊髄小脳変性症", "yomigana": "じょうせんしょくたいゆうせいいでんせいせきずいしょうのうへんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200040", "notificationNumber": "18", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200326", "label_en": "Nephrogenic diabetes insipidus", "label_ja": "腎性尿崩症", "yomigana": "じんせいにょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200326", "notificationNumber": "74", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100117", "symptoms_en_list": [ "Anorexia | Constipation | Enuresis nocturna | Failure to thrive | Feeding difficulties | Fever | Functional abnormality of the bladder | Global developmental delay | Growth delay | Hydroureter | Hypernatremia | Hypernatremic dehydration | Hyposthenuria | Hypovolemia | Nausea and vomiting | Nephrogenic diabetes insipidus | Polydipsia | Polyhydramnios | Renal insufficiency | Seizure | Short stature" ], "symptoms_ja_list": [ "低張尿 | 低身長 | 便秘 | 全般性発達遅滞 | 吐気と 嘔吐 | 多飲 | 夜尿 | 循環血液量減少 | 成長遅滞 | 成長障害 (成長不全) | 水尿管症 | 発作 | 発熱 | 羊水過多 | 腎不全 | 腎源性尿崩症 | 膀胱機能異常 | 食思不振 | 食餌摂取障害 | 高ナトリウム血症 | 高ナトリウム血症性脱水" ] }, { "id": "NANDO:2200438", "label_en": "Chronic recurrent multifocal osteomyelitis", "label_ja": "慢性再発性多発性骨髄炎", "yomigana": "まんせいさいはつせいたはつせいこつずいえん", "url": "http://nanbyodata.jp/ontology/NANDO_2200438", "notificationNumber": "22", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100156", "symptoms_en_list": [ "Abnormal epiphysis morphology | Abnormal metaphysis morphology | Abnormal sacroiliac joint morphology | Abnormal vertebral morphology | Acne | Anemia | Arthritis | Bone pain | Cranial nerve paralysis | Craniofacial osteosclerosis | Edema | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Fatigue | Fever | Hyperostosis | Inflammation of the large intestine | Osteolysis | Osteomyelitis | Palmoplantar pustulosis | Poor appetite | Pruritus | Psoriasiform dermatitis | Scoliosis | Skin rash | Vasculitis | Weight loss" ], "symptoms_ja_list": [ "?瘡 | CRP 上昇 | 乾癬 | 仙腸関節の異常 | 体重喪失 | 側弯 | 大腸の炎症 | 掌蹠膿疱 | 掻痒 | 浮腫 | 疲労 | 発熱 | 皮膚発疹 | 脊椎の異常 | 脳神経麻痺 | 血管炎 | 貧血 | 赤沈値上昇 | 関節炎 | 頭蓋顔面骨硬化症 | 食思不振 | 骨化過剰 | 骨幹端の異常 | 骨痛 | 骨端の異常 | 骨融解 | 骨髄炎" ] }, { "id": "NANDO:2100266", "label_en": "intrahepatic cholestatic disorders", "label_ja": "肝内胆汁うっ滞性疾患", "yomigana": "かんないたんじゅううったいせいしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100266", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200033", "label_en": "Crow-Fukase syndrome", "label_ja": "クロウ・深瀬症候群", "yomigana": "くろう・ふかせしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200033", "notificationNumber": "16", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal skin physiology | Abnormality of the endocrine system | Acrocyanosis | Areflexia | Arterial thrombosis | Ascites | Clubbing of fingers | Diabetes mellitus | Edema | Erectile dysfunction | Fatigue | Gynecomastia | Hemangioma | Hepatomegaly | Hyperesthesia | Hyperpigmentation of the skin | Hypertrichosis | Hypogonadism | Hypothyroidism | Increased circulating immunoglobulin concentration | Increased circulating prolactin concentration | Leukonychia | Lipodystrophy | Lymphadenopathy | Lymphoproliferative disorder | Metaphyseal sclerosis | Muscle weakness | Pain | Papilledema | Paresthesia | Pericardial effusion | Plethora | Pleural effusion | Polycythemia | Polyneuropathy | Primary adrenal insufficiency | Pulmonary arterial hypertension | Respiratory insufficiency due to muscle weakness | Restrictive ventilatory defect | Sclerosis of foot bone | Sclerosis of hand bone | Sclerosis of skull base | Sclerotic vertebral endplates | Splenomegaly | Thickened skin | Thrombocytosis | Venous thrombosis | Visceromegaly | Weight loss" ], "symptoms_ja_list": [ "ばち指 | プロラクチン過剰症 | ポリニューロパチー | リポジストロフィー | リンパ増殖性疾患 | リンパ節腫大 | 乳頭浮腫 | 体重喪失 | 内分泌系異常 | 内臓肥大 | 分厚い皮膚 | 勃起異常 | 動脈血栓症 | 原発性副腎不全 | 多毛症 | 多血症 | 女性型乳房 | 心外膜滲出液 | 性腺機能低下症 | 感覚異常 | 手骨硬化症 | 拘束性肺疾患 | 浮腫 | 無反射 | 甲状腺機能低下症 | 疲労 | 疼痛 | 白爪症 | 皮膚生理の異常 | 皮膚高色素 | 知覚過敏 | 硬化性脊椎終板 | 筋虚弱 | 筋虚弱による呼吸不全 | 糖尿病 | 肝腫 | 肢端チアノーゼ | 肺高血圧 | 胸膜滲出液 | 脾腫 | 腹水 | 血小板増多症 | 血管腫 | 足骨硬化症 | 静脈血栓症 | 頭蓋底硬化症 | 骨幹端硬化症 | 高ガンマグロブリン血症" ] }, { "id": "NANDO:2200102", "label_en": "Malignant neurinoma", "label_ja": "悪性神経鞘腫", "yomigana": "あくせいしんけいしょうしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200102", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200457", "label_en": "Eosinophilic gastroenteritis", "label_ja": "好酸球性胃腸炎", "yomigana": "こうさんきゅうせいいちょうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200457", "notificationNumber": "98", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [ "Abdominal pain | Abnormality of the gastrointestinal tract | Allergic rhinitis | Anemia | Ascites | Asthma | Atopic dermatitis | Diarrhea | Dysphagia | Edema | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Hematochezia | Hypoalbuminemia | Increased total eosinophil count | Increased total leukocyte count | Malabsorption | Protein-losing enteropathy | Steatorrhea | Vomiting | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | アトピー性皮膚炎 | アレルギー性鼻炎 | タンパク漏出性腸症 | 下痢 | 体重喪失 | 吸収障害 | 喘息 | 嘔吐 | 嚥下障害 | 好酸球増多症 | 浮腫 | 白血球増多症 | 胃腸管の異常 | 脂肪便 | 腹水 | 腹痛 | 血便排泄 | 貧血 | 赤沈値上昇 | 高アルブミン血症" ] }, { "id": "NANDO:2201159", "label_en": "Glycogen storage disease type IV, hepatic form", "label_ja": "肝型糖原病IV型", "yomigana": "かんがたとうげんびょう4がた", "url": "http://nanbyodata.jp/ontology/NANDO_2201159", "notificationNumber": "65", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200127", "label_en": "Alpha-mannosidosis, infantile form", "label_ja": "乳児型α - マンノシドーシス", "yomigana": "にゅうじがたあるふぁまんのしどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_1200127", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal sella turcica morphology | Abnormal skeletal morphology | Anxiety | Aortic regurgitation | Astigmatism | Ataxia | Atypical behavior | Avascular necrosis | Axial hypotonia | Bilateral coxa valga | Bilateral talipes equinovarus | Brachycephaly | Broad forehead | Cataract | Cerebellar atrophy | Cerebral cortical atrophy | Chiari malformation | Clumsiness | Coarse facial features | Communicating hydrocephalus | Confusion | Corneal opacity | Cortical thickening of long bone diaphyses | Cranial hyperostosis | Craniosynostosis | Delayed speech and language development | Delusion | Depressed nasal bridge | Depression | Disproportionate tall stature | Drowsiness | Dysostosis multiplex | Facial hypotonia | Facial shape deformation | Flat face | Genu valgum | Hallucinations | Hepatosplenomegaly | Highly arched eyebrow | Hypermetropia | Hypertelorism | Hypoplastic inferior ilia | Hypotonia | Immunodeficiency | Intellectual disability | Joint hypermobility | Joint stiffness | Loss of speech | Macrocephaly | Macroglossia | Mandibular prognathia | Mild intellectual disability | Mitral regurgitation | Mixed hearing impairment | Motor delay | Myopathy | Myopia | Oligosacchariduria | Optic disc pallor | Osteolysis | Osteopenia | Otitis media | Pancytopenia | Pectus carinatum | Pectus excavatum | Platyspondyly | Pneumonia | Prominent forehead | Proptosis | Recurrent infections | Recurrent urinary tract infections | Sensorineural hearing impairment | Short attention span | Short neck | Soft skin | Spastic paraplegia | Specific learning disability | Strabismus | Subcortical cerebral atrophy | Talipes valgus | Thickened calvaria | Thickened ribs | Umbilical hernia | Widely spaced teeth" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | うつ | はと胸 | オリゴ糖尿 | トルコ鞍の異常 | ミオパチー | 下顎突出 | 不器用 | 不均衡型高身長 | 不安 | 両側性内反尖足 | 両側性外反股 | 両眼隔離 | 中耳炎 | 乱視 | 交通性水頭症 | 体幹の筋緊張低下 | 僧帽弁逆流 | 免疫不全 | 分厚い頭蓋冠 | 反復性尿路感染症 | 反復性感染症 | 外反膝 | 外反足 | 多発性異骨症 | 大動脈逆流 | 大脳皮質萎縮 | 大頭 | 妄想 | 小脳萎縮 | 巨舌 | 幅広い額 | 平坦な顔 | 幻覚 | 感音難聴 | 扁平脊椎 | 斜視 | 柔らかい皮膚 | 歯間隔離 | 汎血球減少症 | 混合性難聴 | 漏斗胸 | 無菌性壊死 | 特異的学習障害 | 痙性対麻痺 | 発語および言語発達遅延 | 発語喪失 | 白内障 | 皮質下 大脳萎縮 | 目立つ額 | 眠気 | 眼球突出 | 知的障害 | 知的障害", "軽度 | 短い注意期間 | 短い頸部 | 短頭 | 筋緊張低下 | 粗な顔貌 | 肋骨肥厚 | 肝脾腫 | 肺炎 | 腸骨下部低形成 | 臍ヘルニア | 落ちくぼんだ鼻梁 | 行動異常 | 視神経杯蒼白 | 角膜混濁 | 近視 | 運動失調 | 運動発達遅滞 | 遠視 | 錯乱 | 長管骨骨幹の皮質肥厚 | 関節拘縮 | 関節過動 | 頭蓋合骨症 | 頭蓋骨過骨症 | 顔面変形 | 顔面筋緊張低下 | 骨格形態の異常 | 骨減少症 | 骨融解 | 高位の弓形眉毛 | 高度/補酵素活性異常" ] }, { "id": "NANDO:1200837", "label_en": "Glycogen storage diseases type XV", "label_ja": "筋型糖原病XV型", "yomigana": "きんがたとうげんびょう15がた", "url": "http://nanbyodata.jp/ontology/NANDO_1200837", "notificationNumber": "256", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal wall muscle weakness | Arrhythmia | Autosomal recessive inheritance | Cardiomyopathy | Complete right bundle branch block | Decreased muscle glycogen content | Decreased muscle mass | Diabetes mellitus | EMG: myopathic abnormalities | Exertional dyspnea | Foot dorsiflexor weakness | Hypothyroidism | Muscle weakness | Neck flexor weakness | Palpitations | Paroxysmal ventricular tachycardia | ST segment elevation | Scapular winging | Shoulder girdle muscle weakness | T-wave inversion | Type 1 muscle fiber predominance | Upper limb muscle weakness | Ventricular fibrillation | Ventricular hypertrophy | Ventricular septal hypertrophy | Ventricular tachycardia | Vertigo" ], "symptoms_ja_list": [ "1型筋線維有意 | ST 部分上昇 | 上肢筋虚弱 | 不整脈 | 動悸 | 右脚ブロック | 左室中隔肥大 | 常染色体潜性遺伝 | 心室性 頻拍 | 心室細動 | 心室肥大 | 心筋症 | 心電図: T-波逆転 | 甲状腺機能低下症 | 発作性心室性頻拍 | 眩暈 | 筋グリコーゲン量減少 | 筋虚弱 | 筋量減少 | 筋電図: ミオパチー異常 | 糖尿病 | 翼状肩甲骨 | 肩帯筋虚弱 | 腹筋虚弱 | 足背屈筋虚弱 | 運動性呼吸困難 | 頸部屈曲筋虚弱" ] }, { "id": "NANDO:2201095", "label_en": "Late-onset argininosuccinate synthetase deficiency", "label_ja": "遅発型アルギニノコハク酸合成酵素欠損症", "yomigana": "ちはつがたあるぎにのこはくさんごうせいこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201095", "notificationNumber": "1", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201297", "label_en": "Ataxia, delayed dentition, and hypomyelination syndrome", "label_ja": "失調、歯牙低形成を伴う髄鞘形成不全症", "yomigana": "しっちょう、しがていけいせいをともなうずいしょうけいせいふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201297", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Abnormality of ocular smooth pursuit | Ataxia | Autosomal recessive inheritance | Babinski sign | CNS hypomyelination | Cerebellar atrophy | Cerebral cortical atrophy | Childhood onset | Congenital onset | Death in early adulthood | Delayed puberty | Developmental regression | Drooling | Dysarthria | Dysmetria | Dysphagia | Dystonia | Gaze-evoked nystagmus | Global developmental delay | Hyperreflexia | Hypodontia | Hypogonadotropic hypogonadism | Hypoplasia of the corpus callosum | Infantile onset | Juvenile onset | Leukodystrophy | Loss of ambulation | Myopia | Oligodontia | Optic atrophy | Peripheral neuropathy | Postural tremor | Progressive | Seizure | Short stature | Spasticity | Tremor | Vertical supranuclear gaze palsy" ], "symptoms_ja_list": [ "Babinski サイン | ジストニア | ロイコジストロフィー | 中枢神経髄鞘形成低下 | 乏歯症 | 低ゴナドトロピン性性腺機能低下症 | 低身長 | 全般性発達遅滞 | 円滑的追跡眼球運動の異常 | 反射亢進 | 嚥下障害 | 垂直性核上性注視麻痺 | 大脳皮質萎縮 | 姿勢性振戦 | 小脳萎縮 | 常染色体潜性遺伝 | 思春期遅発 | 振戦 | 末梢神経ニューロパチー | 構音障害 | 注視誘発性眼振 | 流涎 | 減歯症 | 測定障害 | 痙性 | 発作 | 発達退行 | 脳梁低形成 | 視神経萎縮 | 近視 | 進行性歩行不安定 | 運動失調" ] }, { "id": "NANDO:2200741", "label_en": "Fas-associated death domain protein deficiency", "label_ja": "FADD欠損症", "yomigana": "えふえーでぃーでぃーけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200741", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Autosomal recessive inheritance | Cerebral atrophy | Death in childhood | Decreased liver function | Encephalopathy | Hepatic bridging fibrosis | Hepatic fibrosis | Left superior vena cava draining directly to the left atrium | Pulmonary artery atresia | Recurrent infections | Seizure | Ventricular septal defect" ], "symptoms_ja_list": [ "反復性感染症 | 大脳萎縮 | 左房に直接流入する左上大静脈 | 常染色体潜性遺伝 | 心室中隔欠損 | 発作 | 肝架橋性線維症 | 肝機能低下 | 肝線維症 | 肺動脈閉鎖 | 脳症" ] }, { "id": "NANDO:2100207", "label_en": "Primary phagocyte dysfunction and phagocyte deficiency", "label_ja": "原発性食細胞機能不全症および欠損症", "yomigana": "げんぱつせいしょくさいぼうきのうふぜんしょうおよびけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100207", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200719", "label_en": "Primary nephrotic syndrome", "label_ja": "一次性ネフローゼ症候群", "yomigana": "いちじせいねふろーぜしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200719", "notificationNumber": "222", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200181", "label_en": "Duplication of the renal pelvis and ureter", "label_ja": "重複腎盂尿管", "yomigana": "じゅうふくじんうにょうかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200181", "notificationNumber": "21", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100025", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100229", "label_en": "Cerebral arteriovenous malformation", "label_ja": "脳動静脈奇形", "yomigana": "のうどうじょうみゃくきけい", "url": "http://nanbyodata.jp/ontology/NANDO_2100229", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100214", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100157", "label_en": "Diabetes", "label_ja": "糖尿病", "yomigana": "とうにょうびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100157", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": null, "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200532", "label_en": "Galactose-1-phosphate uridyltransferase deficiency", "label_ja": "ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症", "yomigana": "がらくとーす1りんさんうりじるとらんすふぇらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200532", "notificationNumber": "59", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormality of coagulation | Abnormality of mental function | Abnormality of the nervous system | Action tremor | Albuminuria | Aminoaciduria | Anxiety | Ascites | Ataxia | Attention deficit hyperactivity disorder | Autistic behavior | Autosomal recessive inheritance | Bilateral tonic-clonic seizure | Cataract | Cirrhosis | Clumsiness | Cryptorchidism | Decreased circulating vitamin D concentration | Decreased fertility in females | Decreased liver function | Deficit in grammar | Delayed puberty | Delayed speech and language development | Depression | Diarrhea | Dysarthria | Dystonia | Elevated circulating hepatic transaminase concentration | Encephalopathy | Failure to thrive | Feeding difficulties | Food intolerance | Gait disturbance | Gait imbalance | Galactosuria | Generalized hypotonia | Global developmental delay | Hemolytic anemia | Hepatic failure | Hepatomegaly | Hyperchloremic metabolic acidosis | Hypergalactosemia | Hypergonadotropic hypogonadism | Hypoglycemia | Incoordination | Intellectual disability | Jaundice | Lethargy | Male infertility | Mental deterioration | Metabolic acidosis | Mild intellectual disability | Neonatal onset | Oligomenorrhea | Osteoporosis | Postural tremor | Premature ovarian insufficiency | Primary amenorrhea | Reduced bone mineral density | Secondary amenorrhea | Seizure | Sepsis | Specific learning disability | Speech apraxia | Speech articulation difficulties | Vomiting" ], "symptoms_ja_list": [ "うつ | アミノ酸尿 | アルブミン尿 | ガラクトース尿 | ジストニア | ビタミンD欠乏症 | 下痢 | 不器用 | 不均衡歩行 | 不安 | 二次性無月経 | 代謝性アシドーシス | 低血糖 | 作動振戦 | 停留精巣 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性間代性強直性発作 | 凝固の異常 | 協調運動障害 | 原発性無月経 | 嘔吐 | 女性の妊孕性減少 | 姿勢性振戦 | 希発月経 | 常染色体潜性遺伝 | 思春期遅発 | 成長障害 (成長不全) | 敗血症 | 文法特異的発語異常症 | 早発性卵巣不全 | 構音障害 | 歩行障害 | 注意力欠陥多動性疾患 | 溶血性貧血 | 無気力 | 特異的学習障害 | 男性不妊 | 発作 | 発語および言語発達遅延 | 発語失行症 | 発語調音困難 | 白内障 | 知的障害 | 知的障害", "軽度 | 知能悪化 | 神経系の異常 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝機能低下 | 肝硬変 | 肝腫 | 脳症 | 腹水 | 自閉性行動 | 運動失調 | 食物不耐性 | 食餌摂取障害 | 骨ミネラル濃度減少 | 骨粗鬆症 | 高ガラクトース血症 | 高クロール血症性代謝性アシドーシス | 高ゴナドトロピン性性腺機能低下症 | 高度/補酵素活性異常 | 高次精神機能の異常 | 黄疸" ] }, { "id": "NANDO:2200565", "label_en": "Farber disease", "label_ja": "ファーバー病", "yomigana": "ふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200565", "notificationNumber": "123", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [ "Abnormal circulating enzyme concentration or activity | Abnormal conjunctiva morphology | Abnormal epiglottis morphology | Abnormal facial shape | Abnormal foot morphology | Abnormal skeletal morphology | Abnormal sternum morphology | Abnormality of the elbow | Abnormality of the hand | Abnormality of the knee | Abnormality of the nervous system | Abnormality of the respiratory system | Abnormality of the wrist | Anemia | Arthralgia | Arthritis | Ascites | Atelectasis | Atypical behavior | Autosomal recessive inheritance | Brain atrophy | CNS foam cells | Cherry red spot of the macula | Childhood onset | Chronic diarrhea | Corneal opacity | Developmental regression | Diffuse reticular or finely nodular infiltrations | Dysphonia | EMG: chronic denervation signs | Elevated circulating hepatic transaminase concentration | Failure to thrive | Feeding difficulties | Flexion contracture | Floppy infant | Global developmental delay | Hepatic failure | Hepatic fibrosis | Hepatomegaly | Hepatosplenomegaly | Hoarse cry | Hoarse voice | Hydrops fetalis | Hyperextensibility of the finger joints | Infantile spasms | Intellectual disability | Intrahepatic cholestasis with episodic jaundice | Irritability | Joint swelling | Laryngeal stridor | Limitation of knee mobility | Loss of voice | Lymphadenopathy | Macular degeneration | Motor delay | Mutism | Myoclonus | Nystagmus | Opacification of the corneal stroma | Osteolysis involving bones of the feet | Osteolytic defects of the phalanges of the hand | Osteoporosis | Paraparesis | Periarticular subcutaneous nodules | Progressive | Recurrent fever | Recurrent upper respiratory tract infections | Respiratory distress | Respiratory insufficiency | Seizure | Short finger | Short stature | Short toe | Skeletal muscle atrophy | Spasticity | Splenomegaly | Subcutaneous nodule | Thrombocytopenia | Ulnar deviation of the wrist | Weak cry" ], "symptoms_ja_list": [ "びまん性網状または微細結節性浸潤 | ミオクローヌス | リンパ節腫大 | 不全対麻痺 | 乳児スパスム | 乳児筋性筋緊張低下 | 低身長 | 全般性発達遅滞 | 内臓器官および中枢神経の泡沫細胞 | 動脈周囲皮下結節 | 反復性上気道感染症 | 呼吸不全 | 呼吸器の異常 | 呼吸窮迫 | 喉頭喘鳴 | 喉頭蓋の異常 | 嗄声 | 声喪失 | 屈曲拘縮 | 常染色体潜性遺伝 | 弱い泣き声 | 慢性下痢 | 成長障害 (成長不全) | 手の異常 | 手関節の尺側偏位 | 手関節の異常 | 指関節過伸展 | 指骨の骨融解病変 | 無気肺 | 無言症 | 異常な顔の形 | 痙性 | 発作 | 発熱エピソード | 発達退行 | 発音障害 | 皮下結節 | 眼振 | 知的障害 | 短い指 | 短い趾 | 神経系の異常 | 筋萎縮 | 筋電図: 慢性変性サイン | 粗い泣き声 | 結膜の異常 | 肘異常 | 肝トランスアミナーゼ上昇 | 肝不全 | 肝線維症 | 肝脾腫 | 肝腫 | 胎児水腫 | 胸骨の異常 | 脳萎縮 | 脾腫 | 腹水 | 膝の異常 | 膝運動制限 | 血小板減少 | 行動異常 | 被刺激性 | 角膜混濁 | 角膜間質混濁形成 | 貧血 | 足の異常 | 運動発達遅滞 | 関節炎 | 関節痛 | 関節腫脹 | 食餌摂取障害 | 骨格形態の異常 | 骨粗鬆症 | 骨融解 (足の骨) | 高度/補酵素活性異常 | 黄斑のチェリーレッド斑 | 黄斑変性 | 黄疸エピソードを伴う肝内胆汁うっ滞" ] }, { "id": "NANDO:2200484", "label_en": "Hyperornithinemia", "label_ja": "高オルニチン血症", "yomigana": "こうおるにちんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200484", "notificationNumber": "7", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100160", "symptoms_en_list": [ "Abnormal hair morphology | Abnormal macular morphology | Aminoaciduria | Autosomal recessive inheritance | Blindness | Cataract | Childhood onset | Chorioretinal atrophy | Constriction of peripheral visual field | EMG abnormality | Foveoschisis | Hearing impairment | Hyperornithinemia | Myopia | Nyctalopia | Posterior subcapsular cataract | Progressive night blindness | Progressive visual loss | Proximal muscle weakness | Seizure | Subcapsular cataract | Visual impairment" ], "symptoms_ja_list": [ "アミノ酸尿 | 中心窩分離症 | 嚢下白内障 | 夜盲症 | 常染色体潜性遺伝 | 後嚢下白内障 | 毛髪の異常 | 発作 | 白内障 | 盲 | 筋電図異常 | 脈絡膜網膜萎縮 | 視力障害 | 視野狭窄 | 近位筋虚弱 | 近視 | 進行性夜盲症 | 進行性視力喪失 | 難聴 | 高オルニチン血症 | 黄斑の異常" ] }, { "id": "NANDO:2100039", "label_en": "Bronchiolitis obliterans", "label_ja": "閉塞性細気管支炎", "yomigana": "へいそくせいさいきかんしえん", "url": "http://nanbyodata.jp/ontology/NANDO_2100039", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100029", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200837", "label_en": "Megaloencephalic leukoencephalopathy with subcortical cysts", "label_ja": "皮質下嚢胞をもつ大頭型白質脳症", "yomigana": "ひしつかのうほうをもつだいとうがたはくしつのうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200837", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Abnormality of extrapyramidal motor function | Ataxia | Athetosis | Atypical behavior | Autism | Cerebral white matter atrophy | Clumsiness | Diffuse swelling of cerebral white matter | Dystonia | Intellectual disability | Mental deterioration | Motor deterioration | Postnatal macrocephaly | Seizure | Spasticity | Status epilepticus | Unsteady gait" ], "symptoms_ja_list": [ "てんかん重積 | びまん性大脳白質腫脹 | アテトーゼ | ジストニア | 不器用 | 不安定歩行 | 大脳白質萎縮 | 生後の大頭 | 痙性 | 発作 | 知的障害 | 知能悪化 | 自閉症 | 行動異常 | 運動失調 | 運動発達悪化 | 錐体外路運動機能の異常" ] }, { "id": "NANDO:2100070", "label_en": "Ischemic heart disease", "label_ja": "虚血性心疾患", "yomigana": "きょけつせいしんしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2100070", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200333", "label_en": "Bloom syndrome", "label_ja": "ブルーム症候群", "yomigana": "ぶるーむしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200333", "notificationNumber": "65", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100006", "symptoms_en_list": [ "Abdominal obesity | Abnormal blistering of the skin | Abnormality of chromosome stability | Abnormality of the immune system | Abnormally high-pitched voice | Acute lymphoblastic leukemia | Acute myeloid leukemia | Adipose tissue loss | Agenesis of maxillary lateral incisor | Autosomal recessive inheritance | Azoospermia | Bronchiectasis | Bronchitis | Cafe-au-lait spot | Cheilitis | Chronic lung disease | Chronic pulmonary obstruction | Clinodactyly of the 5th finger | Congenital onset | Cryptorchidism | Cutaneous photosensitivity | Decreased circulating IgA concentration | Decreased circulating IgG concentration | Decreased circulating IgM concentration | Decreased circulating immunoglobulin concentration | Decreased fertility in females | Diabetes mellitus | Dolichocephaly | Esophageal neoplasm | Facial erythema | Facial telangiectasia in butterfly midface distribution | Gastroesophageal reflux | Gastrostomy tube feeding in infancy | Growth delay | Hand polydactyly | Hepatic steatosis | Hypertrichosis | Hypopigmentation of the skin | Infantile onset | Insulin resistance | Intrauterine growth retardation | Leukemia | Lymphoma | Malar flattening | Male infertility | Malignant genitourinary tract tumor | Microcephaly | Micrognathia | Mild intellectual disability | Myelodysplasia | Narrow face | Neoplasm | Neoplasm of the breast | Neoplasm of the colon | Neoplasm of the skin | Nephroblastoma | Oligozoospermia | Otitis media | Paronychia | Patchy alopecia | Pneumonia | Poikiloderma | Poor appetite | Postnatal growth retardation | Premature ovarian insufficiency | Prominent nose | Protruding ear | Recurrent herpes | Recurrent infections | Recurrent tonsillitis | Recurrent upper respiratory tract infections | Recurrent urinary tract infections | Respiratory failure | Respiratory tract infection | Retinopathy | Retrognathia | Rhinitis | Severe postnatal growth retardation | Skin rash | Small for gestational age | Sparse eyelashes | Specific learning disability | Spotty hypopigmentation | Squamous cell carcinoma | Stomach cancer | Syndactyly | Telangiectasia | Type II diabetes mellitus | Uveitis" ], "symptoms_ja_list": [ "II 型糖尿病 | IgA欠乏症 | IgG欠乏症 | IgM欠乏症 | インスリン抵抗性 | カフェオーレ斑 | ブドウ膜炎 | ヘルペスウイルスへの感受性 | リンパ腫 | 上顎側切歯無発生 | 下顎後退 | 中耳炎 | 乏精子症 | 乳児期の胃瘻管栄養 | 乳房新生物 | 低ガンマグロブリン血症 | 停留精巣 | 免疫系の異常 | 反復性上気道感染症 | 反復性尿路感染症 | 反復性感染症 | 口唇炎 | 合指趾症 | 呼吸不全 | 呼吸器感染 | 在胎月齢より小さい児 | 基底細胞癌 | 多形皮膚萎縮症 (ポイキロデルマ) | 多指症 | 多毛症 | 女性の妊孕性減少 | 子宮内成長遅滞 | 小頭 | 小顎 | 常染色体潜性遺伝 | 平坦な頬 | 急性リンパ性白血病 | 急性骨髄性白血病 | 悪性泌尿生殖器腫瘍 | 慢性肺疾患 | 慢性閉塞性肺疾患 | 成長遅滞 | 扁桃炎 | 斑状低色素 | 斑状禿頭 | 新生物 | 早発性卵巣不全 | 染色体安定性の異常 | 毛細血管拡張 | 気管支拡張 | 気管支炎 | 無精子症 | 爪周囲炎 | 特異的学習障害 | 狭い顔 | 生後の成長遅滞 | 男性不妊 | 異常な皮膚水泡 | 疎な睫毛 | 白血病 | 皮膚低色素 | 皮膚光線過敏症 | 皮膚新生物 | 皮膚発疹 | 目立つ鼻 | 知的障害", "軽度 | 第5指弯指 | 糖尿病 | 結腸新生物 | 網膜症 | 耳介聳立 | 肺炎 | 胃癌 | 胃食道逆流 | 脂肪組織喪失 | 脂肪肝 | 腎芽腫 (Wilms 腫瘍) | 腹部肥満 | 蝶形顔面中部分布の顔面毛細血管拡張 | 重度の生後の成長遅滞 | 長頭 | 顔面紅斑 | 食思不振 | 食道新生物 | 骨髄異形成 | 高音の声 | 鼻炎" ] }, { "id": "NANDO:1201135", "label_en": "Incomplete Behçet’s disease", "label_ja": "不全型ベーチェット病", "yomigana": "ふぜんがたべーちぇっとびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201135", "notificationNumber": "56", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200029", "label_en": "Angioimmunoblastic T-cell lymphoma", "label_ja": "血管免疫芽球性T細胞リンパ腫", "yomigana": "けっかんめんえきがきゅうせいてぃーさいぼうりんぱしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200029", "notificationNumber": "91", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200985", "label_en": "Neonatal nonketotic hyperglycinemia", "label_ja": "新生児型非ケトーシス型高グリシン血症", "yomigana": "しんせいじがたひけとーしすがたこうぐりしんけっしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200985", "notificationNumber": "321", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200877", "label_en": "Severe myoclonic epilepsy in infancy", "label_ja": "乳児重症ミオクロニーてんかん", "yomigana": "にゅうじじゅうしょうみおくろにーてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200877", "notificationNumber": "74", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201502", "label_en": "Focal cortical dysplasia type 2a", "label_ja": "限局性皮質異形成タイプ2a", "yomigana": "げんきょくせいひしついけいせいたいぷ2えー", "url": "http://nanbyodata.jp/ontology/NANDO_2201502", "notificationNumber": "87", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100217", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200866", "label_en": "Hyper IgD syndrome", "label_ja": "高IgD症候群", "yomigana": "こうあいじーでぃーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200866", "notificationNumber": "267", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Acrocyanosis | Agenesis of cerebellar vermis | Anemia | Arthralgia | Arthritis | Ataxia | Attenuation of retinal blood vessels | Autosomal recessive inheritance | Blue sclerae | Cataract | Cerebellar atrophy | Cerebral atrophy | Cerebral cortical atrophy | Chronic diarrhea | Delayed skeletal maturation | Diarrhea | Dolichocephaly | Downslanted palpebral fissures | Dysarthria | Edema | Elevated circulating C-reactive protein concentration | Elevated circulating creatine kinase activity | Elevated circulating hepatic transaminase concentration | Elevated erythrocyte sedimentation rate | Erythema | Failure to thrive | Failure to thrive in infancy | Febrile seizure (within the age range of 3 months to 6 years) | Fluctuating hepatomegaly | Fluctuating splenomegaly | Gastrointestinal hemorrhage | Generalized hypotonia | Global developmental delay | Growth delay | Headache | Hepatomegaly | Hepatosplenomegaly | Hypotonia | Increased circulating IgA concentration | Increased total leukocyte count | Increased total neutrophil count | Infantile onset | Intellectual disability | Intestinal obstruction | Kyphoscoliosis | Large fontanelles | Limitation of joint mobility | Low-set ears | Lymphadenitis | Lymphadenopathy | Microcephaly | Migraine | Morbilliform rash | Myalgia | Normocytic hypoplastic anemia | Nuclear cataract | Nyctalopia | Nystagmus | Optic disc pallor | Oral ulcer | Papule | Peritonitis | Posteriorly rotated ears | Progressive cerebellar ataxia | Purpura | Recurrent aphthous stomatitis | Recurrent fever | Recurrent infections | Recurrent oral thrush | Renal angiomyolipoma | Rod-cone dystrophy | Seizure | Short stature | Skin rash | Splenomegaly | Thrombocytopenia | Triangular face | Underdeveloped nasal alae | Urticaria | Vasculitis | Vertigo | Vomiting" ], "symptoms_ja_list": [ "CRP 上昇 | IgA 値増加 | リンパ節炎 | リンパ節腫大 | 三角形の顔 | 下痢 | 丘疹 | 乳児期の成長障害 (成長不全) | 低身長 | 偏頭痛 | 全般性発達遅滞 | 全身性筋緊張低下 | 反復性アフタ性口内炎 | 反復性感染症 | 口腔潰瘍 | 嘔吐 | 変動性肝腫 | 変動性脾腫 | 夜盲症 | 大きな泉門 | 大脳皮質萎縮 | 大脳萎縮 | 好中球増多症 | 小脳萎縮 | 小脳虫部無発生 | 小頭 | 常染色体潜性遺伝 | 後側弯 | 慢性下痢 | 慢性口腔カンジダ症 | 成長遅滞 | 成長障害 (成長不全) | 核白内障 | 構音障害 | 正球性再生不良性貧血 | 浮腫 | 熱性けいれん | 発作 | 発熱エピソード | 白内障 | 白血球増多症 | 皮膚発疹 | 眩暈 | 眼振 | 眼瞼裂斜下 | 知的障害 | 筋痛 | 筋緊張低下 | 紅斑 | 紫斑 | 網膜血管減弱 | 耳介低位 | 耳介後方回転 | 肝トランスアミナーゼ上昇 | 肝脾腫 | 肝腫 | 肢端チアノーゼ | 胃腸出血 | 脾腫 | 腎血管筋脂肪腫 | 腸閉塞 | 腹痛 | 腹膜炎 | 色素性網膜炎 | 蕁麻疹 | 血小板減少 | 血清 creatine phosphokinase上昇 | 血管炎 | 視神経杯蒼白 | 貧血 | 赤沈値上昇 | 進行性小脳失調 | 運動失調 | 長頭 | 関節炎 | 関節痛 | 関節運動制限 | 青色胸膜 sclerae | 頭痛 | 骨格骨化遅延 | 麻疹状発疹 | 鼻翼未発達" ] }, { "id": "NANDO:2201003", "label_en": "von Recklinghausen's disease", "label_ja": "レックリングハウゼン病", "yomigana": "れっくりんぐはうぜんびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201003", "notificationNumber": "17", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100287", "symptoms_en_list": [ "Abnormal electroretinogram | Abnormal eyelid morphology | Abnormal hair quantity | Abnormal hip bone morphology | Abnormal retinal pigmentation | Abnormal speech pattern | Abnormality of the endocrine system | Abnormality of the eye | Abnormality of the nervous system | Abnormality of the respiratory system | Abnormality of the skeletal system | Abnormality of the upper urinary tract | Abnormality of vision | Aqueductal stenosis | Arterial stenosis | Astrocytoma | Ataxia | Atrial septal defect | Attention deficit hyperactivity disorder | Autistic behavior | Autosomal dominant inheritance | Axillary freckling | Breast carcinoma | Carcinoid tumor | Cataract | Cerebellar glioma | Childhood onset | Chorioretinal coloboma | Chronic myelogenous leukemia | Coarctation of aorta | Colon cancer | Corneal opacity | Cryptorchidism | Delayed puberty | Downslanted palpebral fissures | Embryonal rhabdomyosarcoma | Few cafe-au-lait spots | Freckling | Gastrointestinal stroma tumor | Generalized hyperpigmentation | Genu valgum | Genu varum | Glaucoma | Glioma | Headache | Hearing abnormality | Hearing impairment | Heterochromia iridis | Hydrocephalus | Hypertelorism | Hypertension | Hypertrophic cardiomyopathy | Hypopigmented skin patches | Hypsarrhythmia | Infantile onset | Joint stiffness | Kyphosis | Leukemia | Lipoma | Lisch nodules | Low-set ears | Macrocephaly | Macule | Malignant peripheral nerve sheath tumor | Medullary thyroid carcinoma | Melanocytic nevus | Memory impairment | Meningioma | Mild intellectual disability | Mitral stenosis | Multiple cafe-au-lait spots | Multiple lipomas | Myopia | Neoplasm | Neoplasm of the breast | Neoplasm of the gastrointestinal tract | Neoplasm of the skin | Neurofibroma | Optic nerve glioma | Osteopenia | Overgrowth | Parathyroid adenoma | Paresthesia | Pectus carinatum | Pectus excavatum | Pericarditis | Pheochromocytoma | Plexiform neurofibroma | Precocious puberty | Proptosis | Pulmonic stenosis | Recurrent fractures | Renal artery stenosis | Rhabdomyosarcoma | Sarcoma | Scoliosis | Seizure | Short stature | Skeletal dysplasia | Slender long bone | Specific learning disability | Spina bifida | Spinal neurofibroma | Subcutaneous nodule | Tall stature | Tibial pseudarthrosis | Urinary tract neoplasm | Ventricular septal defect | Visual impairment | Webbed neck" ], "symptoms_ja_list": [ "Lisch 結節 | はと胸 | カルチノイド | ヒプスアリスミア | メラニン細胞母斑 | 上部尿路異常 | 両眼隔離 | 乳房新生物 | 乳房癌 | 二分脊椎 | 低色素性皮膚斑 | 低身長 | 停留精巣 | 側弯 | 僧帽弁狭窄 | 全身性高色素 | 内分泌系異常 | 内反膝 | 副甲状腺腺腫 | 動脈狭窄 | 反復性骨折 | 叢状神経線維腫 | 呼吸器の異常 | 外反膝 | 多発性カフェオーレ斑 | 多発性脂肪腫 | 大動脈縮窄 | 大頭 | 寛骨の異常 | 小脳膠腫 | 少数のカフェオーレ斑 | 尿路新生物 | 常染色体顕性遺伝 | 後弯 | 心外膜炎 | 心室中隔欠損 | 心房中隔欠損 | 思春期早発 | 思春期遅発 | 感覚異常 | 慢性骨髄性白血病 | 斑 | 新生物 | 星状細胞腫 | 横紋筋肉腫 | 水道狭窄 | 水頭症 | 注意力欠陥多動性疾患 | 漏斗胸 | 特異的学習障害 | 甲状腺髄様癌 | 異常な毛髪量 | 発作 | 白内障 | 白血病 | 皮下結節 | 皮膚新生物 | 眼の異常 | 眼球突出 | 眼瞼の異常 | 眼瞼裂斜下 | 知的障害", "軽度 | 神経学的発語障害 | 神経系の異常 | 神経線維肉腫 | 神経線維腫 | 細い長管骨 | 結腸癌 | 網膜色素異常 | 網膜電図異常 | 緑内障 | 翼状頚 | 耳介低位 | 聴覚異常 | 肉腫 | 肥大型心筋症 | 肺動脈狭窄 | 胃腸管新生物 | 胃腸間質腫瘍 | 胎児性平滑筋肉腫 | 脂肪腫 | 脈絡膜網膜コロボーマ | 脊椎神経線維腫 | 脛骨偽関節 | 腋窩色素斑 | 腎動脈狭窄 | 膠腫 | 自閉性行動 | 色素斑 | 虹彩異色症 | 褐色細胞腫 | 視力障害 | 視神経膠腫 | 視覚の異常 | 角膜混濁 | 記憶障害 | 近視 | 運動失調 | 過成長 | 関節拘縮 | 難聴 | 頭痛 | 骨格の異常 | 骨格異形成 | 骨減少症 | 髄膜腫 | 高血圧 | 高身長" ] }, { "id": "NANDO:2100098", "label_en": "Aortic stenosis", "label_ja": "大動脈狭窄症", "yomigana": "だいどうみゃくきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100098", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201397", "label_en": "Aicardi syndrome", "label_ja": "アイカルディ症候群", "yomigana": "あいかるでぃしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201397", "notificationNumber": "66", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [ "Abnormal retinal pigmentation | Abnormal skin pigmentation | Abnormality of the skin | Anteverted nares | Aplasia/Hypoplasia of the cerebellum | Bifid ribs | Block vertebrae | Butterfly vertebrae | Cataract | Cavum septum pellucidum | Cerebellar vermis hypoplasia | Chiari malformation | Chorioretinal coloboma | Chorioretinal lacunae | Choroid plexus cyst | Cleft palate | Cleft upper lip | Constipation | Dandy-Walker malformation | Delayed CNS myelination | Delayed puberty | Dilated third ventricle | EEG abnormality | Epileptic spasm | Facial asymmetry | Feeding difficulties in infancy | Gastroesophageal reflux | Generalized hypotonia | Gray matter heterotopia | Hemangioma | Hemiplegia/hemiparesis | Hemivertebrae | Hepatoblastoma | Hiatus hernia | Hip dysplasia | Hypertonia | Hypotonia | Infantile spasms | Intestinal polyposis | Lateral ventricle dilatation | Lipoma | Malabsorption | Metastatic angiosarcoma | Microcephaly | Microphthalmia | Missing ribs | Moderate global developmental delay | Moderate intellectual disability | Multiple lipomas | Nystagmus | Optic atrophy | Optic disc coloboma | Pachygyria | Partial agenesis of the corpus callosum | Plagiocephaly | Polymicrogyria | Postnatal growth retardation | Precocious puberty | Profound intellectual disability | Prominence of the premaxilla | Protruding ear | Proximal placement of thumb | Recurrent pneumonia | Retinal detachment | Rib fusion | Scoliosis | Seizure | Severe global developmental delay | Severe intellectual disability | Short philtrum | Skin tags | Small hand | Sparse lateral eyebrow | Spasticity | Spina bifida | Supernumerary ribs | Teratoma | Ventriculomegaly | X-linked dominant inheritance" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | Dandy-Walker 奇形 | X連鎖顕性遺伝 | てんかん性スパスム | 上口唇裂 | 上向きの鼻孔 | 中枢神経髄鞘形成遅延 | 中等度の全般性発達遅滞 | 乳児スパスム | 二分した肋骨 | 二分脊椎 | 便秘 | 側弯 | 側脳室拡大 | 全身性筋緊張低下 | 前上顎突出 | 副肋骨 | 半脊椎 | 反復性肺炎 | 口蓋裂 | 吸収障害 | 塊状椎 | 多小脳回 | 多発性脂肪腫 | 奇形腫 | 小さい手 | 小眼球 | 小脳無形成/低形成 | 小脳虫部低形成 | 小頭 | 思春期早発 | 思春期遅発 | 斜頭 | 片麻痺/片側不全麻痺 | 生後の成長遅滞 | 疎な外側眉毛 | 痙性 | 発作 | 白内障 | 皮膚の異常 | 皮膚肉柱 | 皮膚色素の異常 | 眼振 | 知的障害", "中道動脈瘤 | 知的障害", "最重度 | 知的障害", "重度 | 短い人中 | 第3脳室拡大 | 筋緊張亢進 | 筋緊張低下 | 組織異所発生 | 網膜剥離 | 網膜色素異常 | 耳介聳立 | 肋骨欠損 | 肋骨癒合 | 肝芽腫 | 股関節異形成 | 胃食道逆流 | 脂肪腫 | 脈絡膜叢嚢胞 | 脈絡膜網膜コロボーマ | 脈絡膜網膜裂孔 | 脳回肥厚 | 脳室拡大 | 脳梁の部分的無発生 | 脳波異常 | 腸ポリープ症 | 蝶形脊椎骨 | 血管腫 | 裂孔ヘルニア | 視神経コロボーマ | 視神経萎縮 | 転移性血管肉腫 | 近位母指 | 透明中隔嚢胞 | 重度の全般性発達遅滞 | 顔面非対称 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1201155", "label_en": "Neurodegeneration with brain iron accumulation type2A", "label_ja": "脳内鉄沈着神経変性症2A型", "yomigana": "のうないてつちんちゃくしんけいへんせいしょう2えーがた", "url": "http://nanbyodata.jp/ontology/NANDO_1201155", "notificationNumber": "121", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal cerebral white matter morphology | Abnormal pyramidal sign | Abnormal pyramidal tract morphology | Abnormality of peripheral nerve conduction | Abnormality of visual evoked potentials | Apneic episodes in infancy | Areflexia | Aspiration pneumonia | Ataxia | Atypical behavior | Autistic behavior | Autosomal recessive inheritance | Axial hypotonia | Blindness | Bulbar signs | Cerebellar atrophy | Cerebellar gliosis | Cerebral atrophy | Childhood onset | Constipation | Decreased nerve conduction velocity | Delayed speech and language development | Developmental regression | Diffuse axonal swelling | Downbeat nystagmus | Drooling | Dysarthria | Dystonia | EMG: chronic denervation signs | Emotional lability | Eye of the tiger anomaly of globus pallidus | Flexion contracture | Frontal bossing | Gait disturbance | Generalized hypotonia | Generalized muscle weakness | Gliosis | Global developmental delay | Hearing impairment | Hyperactivity | Hyperreflexia | Hypotonia | Impulsivity | Intellectual disability | Iron accumulation in brain | Mental deterioration | Micrognathia | Neurodegeneration | Neuronal loss in central nervous system | Nystagmus | Optic atrophy | Pendular nystagmus | Peripheral axonal neuropathy | Peripheral neuropathy | Progressive spasticity | Prominent forehead | Psychomotor deterioration | Reduced social responsiveness | Seizure | Sensorimotor neuropathy | Short attention span | Short nose | Spastic tetraparesis | Spastic tetraplegia | Spasticity | Strabismus | Temperature instability | Unsteady gait | Visual loss" ], "symptoms_ja_list": [ "びまん性軸索腫脹 | ジストニア | 下方眼振 | 不安定歩行 | 中枢神経のニューロン喪失 | 乳児期の無呼吸エピソード | 体幹の筋緊張低下 | 体温不安定 | 便秘 | 全般性発達遅滞 | 全身性筋緊張低下 | 全身性筋虚弱 | 前頭突出", "額突出 | 反射亢進 | 多動 | 大脳白質の異常 | 大脳萎縮 | 小脳神経膠症 | 小脳萎縮 | 小顎 | 屈曲拘縮 | 常染色体潜性遺伝 | 情動不安定 | 感覚運動ニューロパチー | 振り子様眼振 | 斜視 | 末梢神経ニューロパチー | 末梢神経伝導の異常 | 末梢神経軸索ニューロパチー | 構音障害 | 歩行障害 | 流涎 | 淡蒼球の虎の眼奇形 | 無反射 | 球症状 | 異常な自律神経生理 | 痙性 | 痙性四肢不全麻痺 | 痙性四肢麻痺 | 発作 | 発語および言語発達遅延 | 発達退行 | 目立つ額 | 盲 | 眼振 | 知的障害 | 知能悪化 | 短い注意期間 | 短い鼻 | 社会的相互関係障害 | 神経変性 | 神経活動電位の振幅減少 | 神経膠症 | 筋緊張低下 | 筋電図: 慢性変性サイン | 精神運動発達悪化 | 脳内鉄沈着 | 自閉性行動 | 行動異常 | 衝動性 | 視力喪失 | 視神経萎縮 | 視覚誘発電位の異常 | 誤嚥性肺炎 | 進行性痙性 | 運動失調 | 錐体路の形態異常 | 錐体路運動機能の異常 | 難聴" ] }, { "id": "NANDO:1200592", "label_en": "West syndrome", "label_ja": "ウエスト症候群", "yomigana": "うえすとしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200592", "notificationNumber": "145", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201017", "label_en": "Chondrodysplasia punctata", "label_ja": "点状軟骨異形成症", "yomigana": "てんじょうなんこついけいせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201017", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100292", "label_en": "Thoracic insufficiency syndrome", "label_ja": "胸郭不全症候群", "yomigana": "きょうかくふぜんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2100292", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100291", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200094", "label_en": "Meningioma", "label_ja": "髄膜腫", "yomigana": "ずいまくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200094", "notificationNumber": "59", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100007", "symptoms_en_list": [ "Abnormal brain FDG positron emission tomography | Abnormal central motor function | Abnormal central sensory function | Abnormal cerebellum morphology | Abnormal hypothalamus physiology | Abnormal speech pattern | Abnormality of the sense of smell | Amenorrhea | Ataxia | Back pain | Blindness | Brain stem compression | Cerebral hemorrhage | Chromosomal breakage induced by ionizing radiation | Cognitive impairment | Cranial nerve paralysis | Decreased circulating ACTH concentration | Decreased circulating cortisol level | Decreased serum estradiol | Emotional lability | Enlarged pituitary gland | Excessive daytime somnolence | Facial palsy | Focal T2 hypointense thalamic lesion | Focal-onset seizure | Functional motor deficit | Gait disturbance | Headache | Hemifacial spasm | Hemiparesis | Hydrocephalus | Hypogonadotropic hypogonadism | Hypothalamic hypothyroidism | Impotence | Increased circulating prolactin concentration | Increased intracranial pressure | Increased sensitivity to ionizing radiation | Intracranial meningioma | Lower limb muscle weakness | Memory impairment | Nausea and vomiting | Neoplasm of the anterior pituitary | Neoplasm of the posterior pituitary | Neoplasm of the skin | Neoplasm of the tongue | Neurofibroma | Obesity | Oculomotor nerve palsy | Ophthalmoplegia | Papilledema | Pituitary hypothyroidism | Progressive pulmonary function impairment | Proptosis | Reduced circulating prolactin concentration | Secondary growth hormone deficiency | Seizure | Slow decrease in visual acuity | Spinal meningioma | Syncope | Tinnitus | Transient global amnesia | Trigeminal neuralgia | Upper limb muscle weakness | Urinary incontinence | Weak extraocular muscles" ], "symptoms_ja_list": [ "インポテンス | プロラクチン欠乏症 | プロラクチン過剰症 | 一過性全般的記憶喪失 | 三叉神経痛 | 上肢筋虚弱 | 下垂体前葉新生物 | 下垂体後葉新生物 | 下垂体甲状腺機能低下症 | 下垂体腫大 | 下肢筋虚弱 | 中枢性感覚機能の異常 | 中枢性運動機能の異常 | 乳頭浮腫 | 二次性成長ホルモン欠乏症 | 低ゴナドトロピン性性腺機能低下症 | 吐気と 嘔吐 | 嗅覚の異常 | 嗜眠 | 大脳出血 | 失心 | 小脳の異常 | 巣状 T2 低輝度視床病変 | 弱い外眼筋 | 循環性ACTH 値減少 | 循環性コルチゾール値減少 | 情動不安定 | 機能的筋異常 | 歩行障害 | 水頭症 | 無月経 | 焦点性発作 | 片側不全麻痺 | 片側顔面スパスム | 異常な脳 FDG ポジトロンCT | 異常な視床下部生理 | 発作 | 皮膚新生物 | 盲 | 眼球突出 | 眼球運動神経麻痺 | 眼筋麻痺 | 神経学的発語障害 | 神経線維腫 | 耳鳴 | 肥満 | 背部痛 | 脊椎髄膜腫 | 脳幹圧迫 | 脳神経麻痺 | 舌新生物 | 血清エストラジオール減少 | 視力の緩徐な減少 | 視床下部甲状腺機能低下症 | 記憶障害 | 認知障害 | 進行性肺機能障害 | 運動失調 | 遺尿 | 電離放射線により誘発される染色体断裂 | 電離放射線への感受性の増加 | 頭痛 | 頭蓋内圧の増加 | 頭蓋内髄膜腫 | 顔面麻痺" ] }, { "id": "NANDO:2201429", "label_en": "Landau-Kleffner syndrome", "label_ja": "ランドウ・クレフナー症候群", "yomigana": "らんどう・くれふなーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201429", "notificationNumber": "71", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [ "Aggressive behavior | Anxiety | Aphasia | Attention deficit hyperactivity disorder | Atypical absence seizure | Atypical behavior | Autistic behavior | Bilateral tonic-clonic seizure | Depression | Developmental regression | Difficulty standing | EEG with frontal focal spikes | EEG with generalized epileptiform discharges | EEG with temporal focal spikes | Emotional lability | Epileptic encephalopathy | Focal impaired awareness seizure | Focal motor seizure | Focal myoclonic seizure | Frequent falls | Gait ataxia | Generalized clonic seizure | Generalized non-motor (absence) seizure | Hyperactivity | Impulsivity | Language impairment | Loss of speech | Memory impairment | Mutism | Seizure | Short attention span | Sleep disturbance | Slurred speech | Social and occupational deterioration | Speech apraxia | Speech articulation difficulties | Steppage gait" ], "symptoms_ja_list": [ "うつ | てんかん性脳症 | 不安 | 不明瞭言語 | 側頭焦点性棘波を伴う脳波 | 全般性てんかん性放電を伴う脳波 | 全身性間代性強直性発作 | 全身性間代性発作 | 多動 | 失語症 | 情動不安定 | 意識または覚醒障害を伴う焦点性発作 | 攻撃的行動 | 欠神発作 | 歩行失調 | 注意力欠陥多動性疾患 | 無言症 | 焦点性ミオクロニー発作 | 焦点性棘波を伴う脳波 | 焦点性運動発作 | 発作 | 発語喪失 | 発語失行症 | 発語調音困難 | 発達退行 | 睡眠障害 | 短い注意期間 | 社会的および職業的悪化 | 自閉性行動 | 行動異常 | 衝動性 | 言語障害 | 記憶障害 | 起立困難 | 非典型的欠伸発作 | 頻回の転倒 | 鶏歩" ] }, { "id": "NANDO:2200222", "label_en": "Other ventricular tachycardia", "label_ja": "9及び10に掲げるもののほか、心室頻拍", "yomigana": "9および10にかかげるもののほか、しんしつひんぱく", "url": "http://nanbyodata.jp/ontology/NANDO_2200222", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100049", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201265", "label_en": "Variegate porphyria", "label_ja": "異型ポルフィリン症", "yomigana": "いけいぽるふぃりんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201265", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100173", "symptoms_en_list": [ "Abdominal pain | Abnormal autonomic nervous system physiology | Abnormal blistering of the skin | Abnormal circulating enzyme concentration or activity | Abnormal circulating porphyrin concentration | Abnormality of the liver | Abnormality of the nervous system | Anemia | Anxiety | Atypical behavior | Autosomal dominant inheritance | Back pain | Chest pain | Chronic kidney disease | Coma | Constipation | Cutaneous photosensitivity | Elevated circulating hepatic transaminase concentration | Elevated urinary delta-aminolevulinic acid | Hallucinations | Hepatocellular carcinoma | Hyperpigmentation of the skin | Hyperreflexia | Hypertension | Hypertrichosis | Hyponatremia | Hypopigmentation of the skin | Hyporeflexia | Ileus | Increased urinary porphobilinogen | Localized skin lesion | Milia | Motor polyneuropathy | Muscle weakness | Nausea | Neurogenic bladder | Paralysis | Paranoia | Peripheral neuropathy | Porphyrinuria | Proximal upper limb muscle weakness | Psychosis | Respiratory paralysis | Scarring | Seizure | Skin erosion | Skin vesicle | Somatic sensory dysfunction | Tachycardia | Tetraparesis | Thickened skin | Vomiting | Young adult onset" ], "symptoms_ja_list": [ "イレウス | パラノイア | ヘム生合成経路の異常 | ポルフィリン尿 | 上肢の近位筋虚弱 | 不安 | 低ナトリウム血症 | 便秘 | 共通 | 分厚い皮膚 | 反射亢進 | 反射低下 | 吐気 | 呼吸麻痺 | 嘔吐 | 四肢不全麻痺 | 多毛症 | 尿中δ-アミノレブリン酸上昇 | 尿中ポルホビリノーゲン増加 | 常染色体顕性遺伝 | 幻覚 | 感覚障害 | 慢性腎疾患 | 昏睡 | 末梢神経ニューロパチー | 異常な皮膚水泡 | 異常な自律神経生理 | 瘢痕 | 発作 | 皮膚びらん | 皮膚低色素 | 皮膚光線過敏症 | 皮膚小水疱 | 皮膚高色素 | 神経因性膀胱 | 神経系の異常 | 稗粒腫 | 筋虚弱 | 精神病 | 肝の異常 | 肝トランスアミナーゼ上昇 | 肝細胞癌 | 背部痛 | 腹痛 | 行動異常 | 貧血 | 運動性ポリニューロパチー | 限局性皮膚病変 | 頻拍 | 高度/補酵素活性異常 | 高血圧 | 麻痺" ] }, { "id": "NANDO:1200951", "label_en": "Vanishing white matter disease", "label_ja": "白質消失病", "yomigana": "はくしつしょうしつびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200951", "notificationNumber": "308", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201291", "label_en": "18q-syndrome", "label_ja": "18q欠失症候群", "yomigana": "18きゅーけっしつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201291", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100222", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal facial shape | Abnormal myelination | Abnormal palmar dermatoglyphics | Abnormal retinal morphology | Absence of the pulmonary valve | Aortic aneurysm | Aortic valve stenosis | Arachnodactyly | Ascending tubular aorta aneurysm | Asthma | Astrocytoma | Atlantoaxial abnormality | Atopic dermatitis | Atresia of the external auditory canal | Atrial septal defect | Autosomal dominant inheritance | Bifid uvula | Bilateral conductive hearing impairment | Bilateral cryptorchidism | Biparietal narrowing | Blepharophimosis | Broad-based gait | Bulbous nose | Cerebellar hypoplasia | Choanal stenosis | Chorea | Choreoathetosis | Cleft palate | Cleft upper lip | Conductive hearing impairment | Congestive heart failure | Cryptorchidism | Decreased circulating IgA concentration | Decreased response to growth hormone stimulation test | Decreased secretory IgA concentration | Delayed CNS myelination | Delayed skeletal maturation | Depressed nasal bridge | Diffuse white matter abnormalities | Downslanted palpebral fissures | Downturned corners of mouth | Dysplastic aortic valve | Dysplastic pulmonary valve | Epicanthus | Failure to thrive | Failure to thrive in infancy | Generalized hypotonia | Global developmental delay | Growth delay | Hearing impairment | High palate | Hydrocephalus | Hypertelorism | Hyporeflexia | Hypospadias | Hypothyroidism | Hypotonia | Incoordination | Inguinal hernia | Intellectual disability | Intrauterine growth retardation | Joint hypermobility | Kyphoscoliosis | Left aortic arch with right descending aorta and right ductus arteriosus | Left-to-right shunt | Low anterior hairline | Macrotia | Malar flattening | Mandibular prognathia | Microcephaly | Micropenis | Midface retrusion | Mild intellectual disability | Mitral regurgitation | Motor delay | Myopia | Neonatal hypotonia | Nystagmus | Open mouth | Optic atrophy | Overlapping toe | Patent ductus arteriosus | Pectus excavatum | Pes cavus | Pes planus | Prominent nose | Proximal placement of thumb | Pulmonary valve defects | Recurrent respiratory infections | Rocker bottom foot | Rod-cone dystrophy | Scoliosis | Secondary growth hormone deficiency | Secundum atrial septal defect | Seizure | Sensorineural hearing impairment | Short neck | Short palpebral fissure | Short philtrum | Short stature | Slender build | Sporadic | Stenosis of the external auditory canal | Strabismus | Talipes equinovarus | Tapered finger | Thick vermilion border | Thin upper lip vermilion | Toe syndactyly | Tremor | U-Shaped upper lip vermilion | Umbilical hernia | Ventricular septal defect | Ventriculomegaly | Wide mouth" ], "symptoms_ja_list": [ "IgA欠乏症 | U字型上口唇唇紅部 | うっ血性心不全 | くも指 | びまん性白質異常 | アトピー性皮膚炎 | 上口唇裂 | 上行大動脈拡張 | 下顎突出 | 両側性伝音難聴 | 両側性停留精巣 | 両眼隔離 | 両頭頂径狭小 | 中枢神経髄鞘形成遅延 | 乳児期の成長障害 (成長不全) | 二分した口蓋垂 | 二次口心房中隔欠損症 | 二次性成長ホルモン欠乏症 | 伝音難聴 | 低い前部毛髪線 | 低身長 | 停留精巣 | 側弯 | 僧帽弁逆流 | 先細りの指 | 全般性発達遅滞 | 全身性筋緊張低下 | 内反尖足 | 内眼角贅皮 | 凹足 | 分厚い唇紅部縁 | 分泌型 IgA欠乏症 | 動脈管開存症 | 協調運動障害 | 反射低下 | 反復性呼吸器感染症 | 口蓋裂 | 口角下垂 | 右下行大動脈と右動脈管を伴う左側大動脈弓 | 合趾症 | 喘息 | 外耳道狭窄 | 外耳道閉鎖 | 大動脈弁狭窄 | 大動脈弁異形成 | 大動脈瘤 | 大耳 | 大脳白質の異常 | 子宮内成長遅滞 | 孤発性 | 小脳低形成 | 小陰茎 | 小頭 | 尿道下裂 | 左-右シャントunt | 常染色体顕性遺伝 | 幅広い口 | 幅広歩行 | 平坦な頬 | 後側弯 | 後鼻孔狭窄 | 心室中隔欠損 | 心房中隔欠損 | 感音難聴 | 成長ホルモン欠乏症 | 成長遅滞 | 成長障害 (成長不全) | 扁平足 | 手掌皮膚紋理異常 | 振戦 | 揺り椅子状足底 | 斜視 | 新生児筋緊張低下 | 星状細胞腫 | 水頭症 | 漏斗胸 | 球状の鼻 | 環軸椎異常 | 甲状腺機能低下症 | 異常な顔の形 | 異常な髄鞘形成 | 発作 | 目立つ鼻 | 眼振 | 眼瞼裂斜下 | 眼瞼裂狭小 | 知的障害 | 知的障害", "軽度 | 短い人中 | 短い眼瞼裂 | 短い頸部 | 筋緊張低下 | 細い体型 | 網膜の異常 | 肺動脈弁奇形 | 肺動脈弁欠損 | 肺動脈弁異形成 | 脳室拡大 | 臍ヘルニア | 舞踏病 | 舞踏病アテトーゼ | 色素性網膜炎 | 落ちくぼんだ鼻梁 | 薄い上口唇唇紅部 | 視神経萎縮 | 趾の重なり | 近位母指 | 近視 | 運動発達遅滞 | 開口 | 関節過動 | 難聴 | 顔面中部後退 | 骨格骨化遅延 | 高口蓋 | 鼠径ヘルニア" ] }, { "id": "NANDO:1200267", "label_en": "Primary antiphospholipid antibody syndrome", "label_ja": "原発性抗リン脂質抗体症候群", "yomigana": "げんぱつせいこうりんししつこうたいしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200267", "notificationNumber": "48", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200221", "label_en": "Catecholaminergic polymorphic ventricular tachycardia", "label_ja": "カテコラミン誘発多形性心室頻拍", "yomigana": "かてこらみんゆうはつたけいせいしんしつひんぱく", "url": "http://nanbyodata.jp/ontology/NANDO_2200221", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100049", "symptoms_en_list": [ "Atrial fibrillation | Cardiac arrest | Palpitations | Sudden cardiac death | Supraventricular tachycardia | Syncope | Ventricular fibrillation | Ventricular tachycardia | Vertigo" ], "symptoms_ja_list": [ "上室性頻拍 | 動悸 | 失心 | 心停止 | 心室性 頻拍 | 心室細動 | 心房細動 | 眩暈 | 突然心臓死" ] }, { "id": "NANDO:1200589", "label_en": "Myoclonic absence epilepsy", "label_ja": "ミオクロニー欠神てんかん", "yomigana": "みおくろにーけっしんてんかん", "url": "http://nanbyodata.jp/ontology/NANDO_1200589", "notificationNumber": "142", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201150", "label_en": "Trifunctional protein deficiency, myopathic type", "label_ja": "遅発型三頭酵素欠損症", "yomigana": "ちはつがたさんとうこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201150", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100162", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200217", "label_en": "Supraventricular tachycardia due to WPW syndrome", "label_ja": "上室頻拍", "yomigana": "じょうしつひんぱく（だぶるぴーだぶるしょうこうぐんによるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200217", "notificationNumber": "26", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100048", "symptoms_en_list": [ "Atrial flutter | Autosomal dominant inheritance | Childhood onset | Juvenile onset | Palpitations | Paroxysmal atrial fibrillation | Prolonged QRS complex | Shortened PR interval | Sudden cardiac death | Syncope | Ventricular preexcitation | Ventricular preexcitation with multiple accessory pathways | Wolff-Parkinson-White syndrome | Young adult onset" ], "symptoms_ja_list": [ "Wolff-Parkinson-White 症候群 | 動悸 | 多発性副伝導路を伴う心室早期興奮 | 失心 | 常染色体顕性遺伝 | 心室早期興奮 | 心房粗動 | 発作性心房細動 | 短い PR 間隔 | 突然心臓死 | 遷延性 QRS 複合" ] }, { "id": "NANDO:2100060", "label_en": "Endocardial fibroelastosis", "label_ja": "心内膜線維弾性症", "yomigana": "しんないまくせんいだんせいしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100060", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100042", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200936", "label_en": "Cone dystrophy", "label_ja": "錐体ジストロフィー", "yomigana": "すいたいじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200936", "notificationNumber": "301", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [ "Abnormal electroretinogram | Abnormal retinal pigmentation | Color vision defect | Photophobia | Visual impairment" ], "symptoms_ja_list": [ "網膜色素異常 | 網膜電図異常 | 羞明 | 色覚異常 | 視力障害" ] }, { "id": "NANDO:1200978", "label_en": "Citrin deficiency", "label_ja": "シトリン欠損症", "yomigana": "しとりんけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200978", "notificationNumber": "318", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201121", "label_en": "presymptomatic multiple carboxylase deficiency", "label_ja": "発症前型複合カルボキシラーゼ欠損症", "yomigana": "はっしょうまえがたふくごうかるぼきしらーぜけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201121", "notificationNumber": "105", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201194", "label_en": "Galactosialidosis, late infantile form", "label_ja": "晩期乳児型ガラクトシアリドーシス", "yomigana": "ばんきにゅうじがたがらくとしありどーしす", "url": "http://nanbyodata.jp/ontology/NANDO_2201194", "notificationNumber": "113", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200449", "label_en": "Ulcerative colitis", "label_ja": "潰瘍性大腸炎", "yomigana": "かいようせいだいちょうえん", "url": "http://nanbyodata.jp/ontology/NANDO_1200449", "notificationNumber": "97", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100013", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200742", "label_en": "Congenital nephrogenic diabetes insipidus", "label_ja": "先天性腎性尿崩症", "yomigana": "せんてんせいじんせいにょうほうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200742", "notificationNumber": "225", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100007", "symptoms_en_list": [ "Anorexia | Constipation | Enuresis nocturna | Failure to thrive | Feeding difficulties | Fever | Functional abnormality of the bladder | Global developmental delay | Growth delay | Hydroureter | Hypernatremia | Hypernatremic dehydration | Hyposthenuria | Hypovolemia | Nausea and vomiting | Nephrogenic diabetes insipidus | Polydipsia | Polyhydramnios | Renal insufficiency | Seizure | Short stature" ], "symptoms_ja_list": [ "低張尿 | 低身長 | 便秘 | 全般性発達遅滞 | 吐気と 嘔吐 | 多飲 | 夜尿 | 循環血液量減少 | 成長遅滞 | 成長障害 (成長不全) | 水尿管症 | 発作 | 発熱 | 羊水過多 | 腎不全 | 腎源性尿崩症 | 膀胱機能異常 | 食思不振 | 食餌摂取障害 | 高ナトリウム血症 | 高ナトリウム血症性脱水" ] }, { "id": "NANDO:2200546", "label_en": "Other disorders of carbohydrate metabolism", "label_ja": "59から73までに掲げるもののほか、糖質代謝異常症", "yomigana": "59から73までにかかげるもののほか、とうしつたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200546", "notificationNumber": "72", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201096", "label_en": "Primary ciliary dyskinesia (including Kartagener syndrome)", "label_ja": "線毛機能不全症候群（カルタゲナー症候群を含む。）", "yomigana": "せんもうきのうふぜんしょうこうぐん（かるたげなーしょうこうぐんをふくむ）", "url": "http://nanbyodata.jp/ontology/NANDO_1201096", "notificationNumber": "340", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal atrial arrangement | Abnormal cardiovascular system morphology | Abnormal heart morphology | Abnormal sperm motility | Abnormality of the genitourinary system | Abnormality of the skeletal system | Airway obstruction | Anomalous pulmonary venous return | Asplenia | Atelectasis | Atrial situs ambiguous | Bronchiectasis | Chronic otitis media | Chronic rhinitis | Chronic sinusitis | Clubbing | Conductive hearing impairment | Delayed speech and language development | Double outlet right ventricle | Female infertility | Hearing impairment | Hydrocephalus | Intestinal malrotation | Male infertility | Morphological central nervous system abnormality | Nasal congestion | Nasal polyposis | Neonatal respiratory distress | Persistent left superior vena cava | Polysplenia | Pulmonary situs ambiguus | Recurrent mycobacterial infections | Recurrent otitis media | Recurrent sinopulmonary infections | Respiratory failure | Respiratory tract infection | Rod-cone dystrophy | Situs inversus totalis | Transposition of the great arteries | Ventriculomegaly" ], "symptoms_ja_list": [ "ばち状化 | 両大血管右室起始症 | 中枢神経の形態異常 | 伝音難聴 | 全内臓逆位 | 動脈不定位 | 反復性マイコバクテリウム感染症 | 反復性中耳炎 | 反復性副鼻腔肺感染症 | 呼吸不全 | 呼吸器感染 | 多脾症 | 大血管転位 | 女性不妊 | 循環器系の形態異常 | 心形態の異常 | 慢性中耳炎 | 慢性副鼻腔炎 | 慢性鼻炎 | 持続性左上大静脈 | 新生児呼吸窮迫 | 気管支拡張 | 水頭症 | 泌尿生殖器異常 | 無気肺 | 無脾症 | 男性不妊 | 異常な心房配置 | 発語および言語発達遅延 | 精子運動異常 | 肺内臓錯位 | 肺静脈還流異常 | 脳室拡大 | 腸回転異常 | 色素性網膜炎 | 閉塞性肺疾患 | 難聴 | 骨格の異常 | 鼻ポリープ症 | 鼻閉" ] }, { "id": "NANDO:1200239", "label_en": "Kindler syndrome", "label_ja": "キンドラー症候群", "yomigana": "きんどらーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200239", "notificationNumber": "36", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal dental enamel morphology | Abnormal rib morphology | Abnormal skin pigmentation | Abnormal skull morphology | Abnormal toenail morphology | Abnormality of the anus | Amniotic constriction ring | Anal stenosis | Anemia | Aplasia/Hypoplasia of the skin | Atypical scarring of skin | Autosomal recessive inheritance | Camptodactyly of finger | Carious teeth | Cheilitis | Colitis | Conjunctivitis | Corneal erosion | Corneal opacity | Cutaneous photosensitivity | Dermal atrophy | Diffuse skin atrophy | Dysphagia | Ectropion | Erythema | Esophageal stenosis | Esophageal stricture | Esophagitis | Finger syndactyly | Flexion contracture | Fragile skin | Gingivitis | Hyperkeratosis | Inflammation of the large intestine | Laryngeal stenosis | Milia | Neoplasm of the urethra | Oral leukoplakia | Palmoplantar hyperkeratosis | Palmoplantar keratoderma | Periodontitis | Phimosis | Poikiloderma | Premature loss of primary teeth | Recurrent skin infections | Ridged nail | Short 4th metacarpal | Short 5th metacarpal | Spotty hyperpigmentation | Spotty hypopigmentation | Squamous cell carcinoma | Telangiectasia of the skin | Turricephaly | Urethral stenosis | Urethral stricture" ], "symptoms_ja_list": [ "びまん性皮膚萎縮 | 反復性皮膚感染症 | 口唇炎 | 口腔ロイコプラキア | 合指症 | 喉頭狭窄 | 嚥下障害 | 基底細胞癌 | 塔状頭 | 外反(眼瞼) | 多形皮膚萎縮症 (ポイキロデルマ) | 大腸の炎症 | 尿道新生物 | 尿道狭窄 | 尿道胸抱く | 屈指 | 屈曲拘縮 | 常染色体潜性遺伝 | 掌蹠角皮症 | 掌蹠過角化症 | 斑状低色素 | 斑状高色素 | 方形 | 早発性乳歯喪失 | 歯エナメル質異常 | 歯周炎 | 歯肉炎 | 異常な皮膚水泡 | 皮膚光線過敏症 | 皮膚毛細血管拡張 | 皮膚無形成/低形成 | 皮膚色素の異常 | 皮膚萎縮 | 短い第4中手骨 | 短い第5中手骨 | 稗粒腫 | 紅斑 | 結腸炎 | 結膜炎 | 羊膜絞扼輪 | 肋骨の異常 | 肛門の異常 | 肛門狭窄 | 脆い皮膚 | 角膜びらん | 角膜混濁 | 貧血 | 趾爪の異常 | 過角化症 | 隆起した爪 | 非典型的皮膚瘢痕 | 頭蓋骨の異常 | 食道炎 | 食道狭窄 | 食道胸抱く | 齲歯" ] }, { "id": "NANDO:2100145", "label_en": "Vitamin D-resistant osteomalacia", "label_ja": "ビタミンD抵抗性骨軟化症", "yomigana": "びたみんでぃーていこうせいこつなんかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100145", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100109", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201024", "label_en": "Monophasic chronic inflammatory demyelinating polyneuropathy", "label_ja": "単相型慢性炎症性脱髄性多発神経炎", "yomigana": "たんそうがたまんせいえんしょうせいだつずいせいたはつしんけいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201024", "notificationNumber": "14", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2100209", "label_en": "Inherited deficiency of complement system", "label_ja": "先天性補体欠損症", "yomigana": "せんてんせいほたいけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100209", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200130", "label_en": "Rapidly progressive glomerulonephritis due to granulomatosis with polyangiitis", "label_ja": "急速進行性糸球体腎炎（多発血管炎性肉芽腫症によるものに限る。）", "yomigana": "きゅうそくしんこうせいしきゅうたいじんえん（たはつけっかんえんせいにくげしゅしょうによるものにかぎる。）", "url": "http://nanbyodata.jp/ontology/NANDO_2200130", "notificationNumber": "35", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100010", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200514", "label_en": "Dystonia 3", "label_ja": "DYT3ジストニア", "yomigana": "でぃーわいてぃー3じすとにあ", "url": "http://nanbyodata.jp/ontology/NANDO_1200514", "notificationNumber": "120", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Adult onset | Aspiration pneumonia | Blepharospasm | Bradykinesia | Chorea | Focal dystonia | Frequent falls | Gait disturbance | Hand tremor | Laryngeal stridor | Limb dystonia | Myoclonus | Parkinsonism with favorable response to dopaminergic medication | Postural instability | Progressive extrapyramidal muscular rigidity | Protruding tongue | Resting tremor | Shuffling gait | Torsion dystonia | Tremor | X-linked recessive inheritance" ], "symptoms_ja_list": [ "X連鎖潜性遺伝 | ひきずり歩行 | ドパミン製剤によく反応するパーキンソン症候群 | ミオクローヌス | 喉頭喘鳴 | 四肢ジストニア | 姿勢不安定 | 安静時振戦 | 手振戦 | 振戦 | 捻転ジストニア | 歩行障害 | 焦点性ジストニア | 眼瞼スパスム | 舌挺出 | 舞踏病 | 誤嚥性肺炎 | 進行性錐体外路筋硬直 | 運動緩徐 | 頻回の転倒" ] }, { "id": "NANDO:1200658", "label_en": "Nasu-Hakola disease", "label_ja": "那須・ハコラ病", "yomigana": "なす・はこらびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200658", "notificationNumber": "174", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal adipose tissue morphology | Abnormal epiphysis morphology | Abnormal speech pattern | Abnormality of movement | Acute leukemia | Arthralgia | Atypical behavior | Bone cyst | Bone pain | Cerebral calcification | Cerebral cortical atrophy | Chorea | Developmental regression | Disinhibition | Disturbed sensory perception | Frontal lobe dementia | Functional abnormality of the gastrointestinal tract | Hydrocephalus | Irritability | Limitation of joint mobility | Memory impairment | Oculomotor apraxia | Personality changes | Reduced bone mineral density | Seizure | Skeletal dysplasia | Spasticity | Ventriculomegaly" ], "symptoms_ja_list": [ "前頭葉認知症 | 大脳皮質萎縮 | 大脳石灰化 | 急性白血病 | 性格変化 | 水頭症 | 痙性 | 発作 | 発達退行 | 眼球運動失行症 | 神経学的発語障害 | 胃腸管機能異常 | 脂肪組織の異常 | 脱抑制 | 脳室拡大 | 舞踏病 | 行動異常 | 被刺激性 | 記憶障害 | 認知不能 | 運動の異常 | 関節痛 | 関節運動制限 | 骨ミネラル濃度減少 | 骨嚢胞 | 骨格異形成 | 骨痛 | 骨端の異常" ] }, { "id": "NANDO:2100276", "label_en": "Giant hepatic hemangiomas", "label_ja": "肝巨大血管腫", "yomigana": "かんきょだいけっかんしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2100276", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100253", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200345", "label_en": "Hypoparathyroidism", "label_ja": "副甲状腺機能低下症", "yomigana": "ふくこうじょうせんきのうていかしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200345", "notificationNumber": "79", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100124", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200088", "label_en": "Type 2 Farber disease", "label_ja": "中間型ファーバー病", "yomigana": "ちゅうかんがたふぁーばーびょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200088", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201065", "label_en": "Herlitz junctional epidermolysis bullosa", "label_ja": "接合部型表皮水疱症（ヘルリッツ型）", "yomigana": "せつごうぶがたひょうひすいほうしょう（へるりっつがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1201065", "notificationNumber": "36", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [ "Abnormal blistering of the skin | Abnormal circulating electrolyte concentration | Abnormal cornea morphology | Abnormal fingertip morphology | Abnormal nail morphology | Abnormal oral mucosa morphology | Abnormality of the bladder | Abnormality of the upper respiratory tract | Alopecia | Anemia | Anonychia | Aplasia cutis congenita | Aplasia/Hypoplasia of the bladder | Atrophic scars | Autosomal recessive inheritance | Bradycardia | Carious teeth | Congenital localized absence of skin | Congenital onset | Constipation | Death in infancy | Dehydration | Dilated cardiomyopathy | Duplicated collecting system | Dyspnea | Dysuria | Edema | Enamel hypoplasia | Esophageal stricture | Failure to thrive | Fragile skin | Gastrointestinal inflammation | Growth delay | Hoarse cry | Hoarse voice | Hydronephrosis | Hydroureter | Lamina lucida cleavage | Laryngeal stenosis | Malnutrition | Milia | Mitten deformity | Multicystic kidney dysplasia | Nail dysplasia | Nail dystrophy | Osteoporosis | Paronychia | Pneumonia | Pneumothorax | Pyloric stenosis | Pyoderma | Recurrent skin infections | Recurrent urinary tract infections | Renal cyst | Renal tubular epithelial necrosis | Respiratory distress | Respiratory failure | Seizure | Sepsis | Skin erosion | Skin plaque | Squamous cell carcinoma | Stridor | Syndactyly | Unexplained fevers | Ureteral obstruction | Ureterocele | Urethral stricture | Urinary retention | Vomiting" ], "symptoms_ja_list": [ "ミトン変形 | 上気道の異常 | 不明熱 | 便秘 | 先天性皮膚無形成 | 先天性限局性皮膚欠損 | 反復性尿路感染症 | 反復性皮膚感染症 | 口腔粘膜異常 | 合指趾症 | 呼吸不全 | 呼吸困難 | 呼吸窮迫 | 喉頭狭窄 | 喘鳴 | 嗄声 | 嘔吐 | 基底細胞癌 | 多嚢胞腎異形成 | 尿管瘤 | 尿管閉塞 | 尿道胸抱く | 尿閉 | 常染色体潜性遺伝 | 幽門狭窄 | 徐脈 | 急性尿細管壊死 | 成長遅滞 | 成長障害 (成長不全) | 拡張型心筋症 | 指尖の異常 | 排尿障害 | 接合部亀裂 | 敗血症 | 栄養失調 | 歯エナメル質低形成 | 気胸 | 水尿管症 | 水腎症 | 浮腫 | 無爪症 | 爪の異常 | 爪ジストロフィー | 爪周囲炎 | 爪異形成 | 異常な皮膚水泡 | 発作 | 皮膚びらん | 皮膚局面 | 禿頭 | 稗粒腫 | 粗い泣き声 | 肺炎 | 胃腸炎症 | 脆い皮膚 | 脱水 | 腎嚢胞 | 膀胱無形成/低形成 | 膀胱異常 | 膿皮症 | 萎縮性瘢痕 | 角膜の異常 | 貧血 | 鉄ホメオスターシスの異常 | 集合管重複 | 食道胸抱く | 骨粗鬆症 | 齲歯" ] }, { "id": "NANDO:1200750", "label_en": "Congenital alveolar proteinosis", "label_ja": "先天性肺胞蛋白症", "yomigana": "せんてんせいはいほうたんぱくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200750", "notificationNumber": "229", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100010", "symptoms_en_list": [ "Abnormal circulating protein concentration | Acute infectious pneumonia | Cough | Failure to thrive in infancy | Foam cells | Hypoxemia | Respiratory distress | Respiratory failure requiring assisted ventilation | Restrictive ventilatory defect | Tachycardia | Tachypnea" ], "symptoms_ja_list": [ "乳児期の成長障害 (成長不全) | 低酸素血症への感受性の減少 | 呼吸窮迫 | 外層 | 多呼吸 | 循環性タンパク値の異常 | 急性感染性肺炎 | 拘束性肺疾患 | 泡沫細胞 | 補助換気が必要な呼吸不全 | 頻拍" ] }, { "id": "NANDO:1200250", "label_en": "Toxic epidermal necrolysis (abortive form)", "label_ja": "中毒性表皮壊死症（不全型）", "yomigana": "ちゅうどくせいひょうひえししょう（ふぜんがた）", "url": "http://nanbyodata.jp/ontology/NANDO_1200250", "notificationNumber": "39", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200507", "label_en": "Other disorders of organic acid metabolism", "label_ja": "23から38までに掲げるもののほか、有機酸代謝異常症", "yomigana": "23から38までにかかげるもののほか、ゆうきさんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200507", "notificationNumber": "110", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200668", "label_en": "Platelet-type von Willebrand disease", "label_ja": "血小板型フォンウィルブランド病", "yomigana": "けっしょうばんがたふぉん・びるぶらんどびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200668", "notificationNumber": "14", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100195", "symptoms_en_list": [ "Autosomal dominant inheritance | Intermittent thrombocytopenia | Prolonged bleeding time" ], "symptoms_ja_list": [ "常染色体顕性遺伝 | 遷出血時間遷延 | 間歇的血小板減少" ] }, { "id": "NANDO:2201252", "label_en": "Female adrenoleukodystrophy", "label_ja": "副腎白質ジストロフィー（女性発症者）", "yomigana": "ふくじんはくしつじすとろふぃー（じょせいはっしょうしゃ）", "url": "http://nanbyodata.jp/ontology/NANDO_2201252", "notificationNumber": "81", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100166", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200738", "label_en": "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "label_ja": "自己免疫性多腺性内分泌不全症", "yomigana": "じこめんえきせいたせんせいないぶんぴつふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200738", "notificationNumber": "44", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100206", "symptoms_en_list": [ "Abnormal cerebral vascular morphology | Abnormal circulating calcium-phosphate regulating hormone concentration | Adrenal hyperplasia | Adrenal insufficiency | Alopecia | Alopecia universalis | Asplenia | Atrophic gastritis | Autoimmunity | Autosomal dominant inheritance | Autosomal recessive inheritance | Cataract | Celiac disease | Childhood onset | Cholelithiasis | Chronic active hepatitis | Chronic sinusitis | Constriction of peripheral visual field | Corneal ulceration | Decreased circulating aldosterone concentration | Decreased circulating vitamin B12 concentration | Diarrhea | Ectodermal dysplasia | Elevated circulating thyroid-stimulating hormone concentration | Enamel hypoplasia | Female hypogonadism | Graves disease | Hashimoto thyroiditis | Hepatitis | Hyperpigmentation of the skin | Hypocalcemic tetany | Hypogonadism | Hypoparathyroidism | Hypopigmented skin patches | Hypoplastic spleen | Hypothyroidism | Increased circulating cortisol level | Infantile onset | Interstitial pneumonitis | Iridocyclitis | Juvenile onset | Keratoconjunctivitis | Malabsorption | Male hypogonadism | Nail dystrophy | Nail pits | Nasal polyposis | Neonatal onset | Nephritis | Nephrocalcinosis | Opacification of the corneal stroma | Optic atrophy | Pancreatitis | Patchy alopecia | Photophobia | Pigmentary retinopathy | Premature ovarian insufficiency | Primary adrenal insufficiency | Primary testicular failure | Recurrent fungal infections | Recurrent mucocutaneous candidiasis | Recurrent oral thrush | Recurrent otitis media | Reduced visual acuity | Seizure | Sepsis | Type I diabetes mellitus | Unusual fungal nail infection | Uveitis | Vitiligo" ], "symptoms_ja_list": [ "Graves 病 | I 型糖尿病 | カルシウム-リン代謝の異常 | セリアック秒 | ビタミンB12欠乏症 | ブドウ膜炎 | 下痢 | 中心視力減少 | 低アルドステロン症 | 低カルシウム血症性テタニー | 低色素性皮膚斑 | 全禿頭 | 副甲状腺機能低下症 | 副腎不全 | 副腎過形成 | 原発性副腎不全 | 原発性精巣不全 | 反復性カビ感染症 | 反復性中耳炎 | 吸収障害 | 外胚葉形成不全 | 大脳血管の異常 | 女性性腺機能低下症 hypogonadism | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 循環性コルチゾール 値増加 | 性腺機能低下症 | 慢性副鼻腔炎 | 慢性口腔カンジダ症 | 慢性活動性肝炎 | 慢性粘膜皮膚カンジダ症 | 慢性萎縮性胃炎 | 敗血症 | 斑状禿頭 | 早発性卵巣不全 | 橋本甲状腺炎 | 歯エナメル質低形成 | 無脾症 | 爪ジストロフィー | 爪小孔 | 爪真菌症 | 甲状腺刺激ホルモン過剰症 | 甲状腺機能低下症 | 男性性腺機能低下症 | 発作 | 白内障 | 白斑 | 皮膚高色素 | 禿頭 | 羞明 | 肝炎 | 胆石症 | 脾低形成 | 腎炎 | 腎石灰化症 | 膵炎 | 自己免疫 | 色素性網膜症 | 虹彩毛様体炎 | 視神経萎縮 | 視野狭窄 | 角結膜炎 | 角膜潰瘍 | 角膜間質混濁形成 | 間質性肺臓炎 | 鼻ポリープ症" ] }, { "id": "NANDO:2201109", "label_en": "Methylcobalamin deficiency cblE type ", "label_ja": "コバラミン代謝異常 cblE", "yomigana": "こばらみんたいしゃいじょう しーびーえるいー", "url": "http://nanbyodata.jp/ontology/NANDO_2201109", "notificationNumber": "109", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100161", "symptoms_en_list": [ "Abnormal cerebral white matter morphology | Abnormal speech pattern | Abnormality of movement | Abnormality of the cardiovascular system | Abnormality of the eye | Abnormality of the liver | Abnormality of the skeletal system | Atypical behavior | Autosomal recessive inheritance | Blindness | Brain atrophy | Cerebral atrophy | Cerebral cortical atrophy | Decreased circulating methylcobalamin concentration | Decreased methionine synthase activity | Decreased total neutrophil count | Deep venous thrombosis | Delayed myelination | Drowsiness | Excessive daytime somnolence | Failure to thrive | Feeding difficulties | Gait disturbance | Global developmental delay | Glomerulopathy | Hearing impairment | Hemolytic-uremic syndrome | Homocystinuria | Hydrocephalus | Hyperhomocystinemia | Hyperkinetic movements | Hypertension | Hypertonia | Hypomethioninemia | Hypoplasia of the brainstem | Hypotonia | Increased mean corpuscular volume | Infantile onset | Intellectual disability | Intrauterine growth retardation | Lethargy | Loss of consciousness | Lower limb hypertonia | Macrocytic anemia | Megaloblastic anemia | Megaloblastic bone marrow | Methylmalonic acidemia | Methylmalonic aciduria | Microcephaly | Neonatal onset | Normocytic anemia | Nystagmus | Osteoporosis | Pancytopenia | Peripheral neuropathy | Postnatal growth retardation | Scoliosis | Seizure | Severe global developmental delay | Syndactyly | Thromboembolism | Ventriculomegaly | Visual impairment | Vomiting | Widened subarachnoid space" ], "symptoms_ja_list": [ "ホモシスチン尿 | メチオニン合成酵素活性の減少 | メチルコバラミンの減少 | メチルマロン酸尿 | メチルマロン酸血症 | 下肢筋緊張亢進 | 低メチオニン血症 | 側弯 | 全般性発達遅滞 | 合指趾症 | 嗜眠 | 嘔吐 | 多動 | 大球性貧血 | 大脳白質の異常 | 大脳皮質萎縮 | 大脳萎縮 | 好中球減少症 | 子宮内成長遅滞 | 小頭 | 巨大赤血球症 | 巨赤芽球性貧血 | 巨赤芽球性骨髄 | 常染色体潜性遺伝 | 幅広いクモ膜下腔 | 心血管系 | 意識喪失 | 成長障害 (成長不全) | 末梢神経ニューロパチー | 正球性貧血 | 歩行障害 | 水頭症 | 汎血球減少症 | 深部静脈血栓症 | 溶血性尿毒症候群症候群 | 無気力 | 生後の成長遅滞 | 発作 | 盲 | 眠気 | 眼の異常 | 眼振 | 知的障害 | 神経学的発語障害 | 筋緊張亢進 | 筋緊張低下 | 糸球体症 | 肝の異常 | 脳室拡大 | 脳幹低形成 | 脳萎縮 | 血栓塞栓症 | 行動異常 | 視力障害 | 運動の異常 | 重度の全般性発達遅滞 | 難聴 | 食餌摂取障害 | 骨格の異常 | 骨粗鬆症 | 髄鞘形成遅延 | 高ホモシスチン血症 | 高血圧" ] }, { "id": "NANDO:2200323", "label_en": "Syndrome of inappropriate secretion of antidiuretic hormone", "label_ja": "抗利尿ホルモン不適切分泌症候群", "yomigana": "こうりにょうほるもんふてきせつぶんぴつしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200323", "notificationNumber": "34", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100116", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201217", "label_en": "Late-infantile Krabbe disease", "label_ja": "後期乳児型クラッベ病", "yomigana": "こうきにゅうじがたくらっべびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201217", "notificationNumber": "114", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100165", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200036", "label_en": "Multiple system atrophy, Parkinsonian type", "label_ja": "MSA-P", "yomigana": "えむえすえーぴー", "url": "http://nanbyodata.jp/ontology/NANDO_1200036", "notificationNumber": "17", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal brain FDG positron emission tomography | Abnormal pyramidal sign | Abnormal rapid eye movement sleep | Anxiety | Apathy | Autonomic bladder dysfunction | Autonomic erectile dysfunction | Axial dystonia | Bradykinesia | Camptocormia | Central sleep apnea | Constipation | Depression | Dysarthria | Frequent falls | Gait ataxia | Gaze-evoked nystagmus | Orofacial dyskinesia | Orthostatic hypotension due to autonomic dysfunction | Orthostatic syncope | Parkinsonism | Postural instability | Postural tremor | Progressive cerebellar ataxia | Resting tremor | Rigidity | Stridor" ], "symptoms_ja_list": [ "うつ | パーキンソン症候群 | 不安 | 中枢性睡眠時無呼吸 | 便秘 | 前屈症 | 口顔面ジスキネジア | 喘鳴 | 姿勢不安定 | 姿勢性振戦 | 安静時振戦 | 構音障害 | 歩行失調 | 注視誘発性眼振 | 無関心", "感情鈍磨 | 異常な急速眼球運動 (REM) 睡眠 | 異常な脳 FDG ポジトロンCT | 異常な自律神経生理 | 硬直 | 自律神経性勃起機能障害 | 自律神経性機能障害による起立性低血圧 | 自律神経性膀胱機能障害 | 起立性失心 | 軸性ジストニア | 進行性小脳失調 | 運動緩徐 | 錐体路運動機能の異常 | 頻回の転倒" ] }, { "id": "NANDO:1200080", "label_en": "Juvenile ｍetachromatic leukodystrophy", "label_ja": "若年型異染性白質ジストロフィー", "yomigana": "じゃくねんがたいせんせいはくしつじすとろふぃー", "url": "http://nanbyodata.jp/ontology/NANDO_1200080", "notificationNumber": "19", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100002", "symptoms_en_list": [ "Abdominal distention | Abnormal cerebral white matter morphology | Abnormal glycosphingolipid metabolism | Abnormal social behavior | Abnormality of metabolism/homeostasis | Abnormality of visual evoked potentials | Ataxia | Autosomal recessive inheritance | Babinski sign | Bilateral sensorineural hearing impairment | Bulbar palsy | Cholecystitis | Chorea | Clumsiness | Decreased nerve conduction velocity | Delusion | Developmental regression | Dysarthria | Dystonia | EMG: chronic denervation signs | EMG: neuropathic changes | Emotional lability | Frequent falls | Gait disturbance | Gallbladder dysfunction | Generalized hypotonia | Hallucinations | Hyperreflexia | Hyporeflexia | Hypotonia | Increased CSF protein concentration | Intellectual disability | Intention tremor | Leukodystrophy | Loss of speech | Mental deterioration | Muscle weakness | Optic atrophy | Peripheral demyelination | Progressive gait ataxia | Progressive peripheral neuropathy | Progressive psychomotor deterioration | Reduced visual acuity | Seizure | Short attention span | Spastic tetraplegia | Spasticity | Tetraplegia | Urinary incontinence" ], "symptoms_ja_list": [ "Babinski サイン | グリコスフィンゴリピド 代謝の異常 | ジストニア | ロイコジストロフィー | 不器用 | 両側性感音難聴 | 中心視力減少 | 代謝/ホメオスターシスの異常 | 企図振戦 | 全身性筋緊張低下 | 反射亢進 | 反射低下 | 四肢麻痺 | 大脳白質の異常 | 妄想 | 常染色体潜性遺伝 | 幻覚 | 情動不安定 | 末梢神経脱髄 | 構音障害 | 歩行障害 | 球麻痺 | 異常な社会的行動 | 痙性 | 痙性四肢麻痺 | 発作 | 発語喪失 | 発達退行 | 知的障害 | 知能悪化 | 短い注意期間 | 神経活動電位の振幅減少 | 筋緊張低下 | 筋虚弱 | 筋電図: 慢性変性サイン | 筋電図: 神経症変化 | 胆嚢機能障害 | 胆嚢炎 | 腹部膨満 | 舞踏病 | 視神経萎縮 | 視覚誘発電位の異常 | 進行性末梢神経ニューロパチー | 進行性歩行失調 | 進行性精神運動発達悪化 | 運動失調 | 遺尿 | 頻回の転倒 | 髄液タンパクの増加" ] }, { "id": "NANDO:2100212", "label_en": "Acquired immune deficiency syndrome", "label_ja": "後天性免疫不全症", "yomigana": "こうてんせいめんえきふぜんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2100212", "notificationNumber": "", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100202", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200390", "label_en": "17 beta-hydroxysteroid dehydrogenase deficiency", "label_ja": "17β-ヒドロキシステロイド脱水素酵素欠損症", "yomigana": "17べーたひどろきしすてろいどだっすいそこうそけっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200390", "notificationNumber": "48", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100140", "symptoms_en_list": [ "Abnormality of metabolism/homeostasis | Ambiguous genitalia | Autosomal recessive inheritance | Bifid scrotum | Clitoral hypertrophy | Cryptorchidism | Female external genitalia in individual with 46", "XY karyotype | Gynecomastia | Hypoplasia of penis | Hypospadias | Hypothyroidism | Infertility | Inguinal hernia | Male pseudohermaphroditism | Urogenital sinus anomaly" ], "symptoms_ja_list": [ "46", "XY核型での女性外性器 | 不妊 | 二分陰嚢 | 代謝/ホメオスターシスの異常 | 停留精巣 | 女性型乳房 | 尿道下裂 | 常染色体潜性遺伝 | 性別不明の外性器 | 泌尿生殖洞奇形 | 甲状腺機能低下症 | 男性仮性半陰陽 | 陰核肥大 | 陰茎低形成 | 鼠径ヘルニア" ] }, { "id": "NANDO:2201023", "label_en": "Pycnodysostosis", "label_ja": "濃化異骨症", "yomigana": "のうかいこつしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2201023", "notificationNumber": "4", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100293", "symptoms_en_list": [ "Abnormal clavicle morphology | Abnormal nail morphology | Abnormality of refraction | Abnormality of the dentition | Abnormality of the nervous system | Absent frontal sinuses | Acromelia | Aplastic clavicle | Autosomal recessive inheritance | Blue sclerae | Brachydactyly | Carious teeth | Cerebral dysmyelination | Chiari malformation | Chronic pain | Convex nasal ridge | Coronal craniosynostosis | Decreased response to growth hormone stimulation test | Delayed cranial suture closure | Delayed eruption of permanent teeth | Delayed eruption of primary teeth | Delayed pneumatization of the mastoid process | Dental malocclusion | Disproportionate short-limb short stature | Enamel hypoplasia | Frontal bossing | Generalized osteosclerosis | Hepatosplenomegaly | High palate | Hyperlordosis | Hypodontia | Hypoplasia of the maxilla | Hypoplastic iliac wing | Increased bone mineral density | Increased intracranial pressure | Increased susceptibility to fractures | Intrauterine growth retardation | Joint hypermobility | Kyphosis | Laryngomalacia | Lower limb asymmetry | Mesomelia | Micrognathia | Midface retrusion | Mild conductive hearing impairment | Mild global developmental delay | Nail dysplasia | Narrow chest | Narrow iliac wing | Narrow palate | Obstructive sleep apnea | Obtuse angle of mandible | Osteolytic defects of the distal phalanges of the hand | Persistence of primary teeth | Persistent open anterior fontanelle | Prominent nose | Prominent occiput | Proptosis | Rhizomelia | Ridged nail | Scoliosis | Short finger | Short foot | Short stature | Small hand | Spondylolisthesis | Spondylolysis | Strabismus | Stridor | Upper motor neuron dysfunction | Wormian bones" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | ウォルム氏骨 | 上顎低形成 | 下肢非対称 | 下顎鈍角 | 不均衡型短肢低身長 | 不正咬合 | 乳様突起含気遅延 | 乳歯萠出遅延 | 乳歯遺残 | 低身長 | 側弯 | 全身性骨硬化症 | 冠状縫合早期癒合 | 凸の鼻梁 | 前弯 | 前頭洞欠損 | 前頭突出", "額突出 | 喉頭軟化症 | 喘鳴 | 四肢中部短縮 | 四肢近位短縮 | 大脳髄鞘形成異常症 | 子宮内成長遅滞 | 小さい手 | 小顎 | 屈折率の異常 | 常染色体潜性遺伝 | 後弯 | 慢性疼痛 | 成長ホルモン欠乏症 | 手の末節骨のの骨融解病変 | 持続性に開いた大泉門 | 斜視 | 易骨折性の増加 | 歯の異常 | 歯エナメル質低形成 | 永久歯萠出遅延 | 減歯症 | 爪の異常 | 爪異形成 | 狭い口蓋 | 狭い胸郭 | 狭い腸骨翼 | 皮質脊髄路機能障害 | 目立つ後頭 | 目立つ鼻 | 眼球突出 | 短い指 | 短い足 | 短指症候群 | 神経系の異常 | 肝脾腫 | 肢端短縮 | 脊椎すべり症 | 脊椎分離症 | 腸骨翼低形成 | 軽度の伝音難聴 | 軽度の全般性発達遅滞 | 鎖骨の異常 | 鎖骨無形成 | 閉塞性睡眠時無呼吸 | 関節過動 | 隆起した爪 | 青色胸膜 sclerae | 頭蓋内圧の増加 | 頭蓋骨縫合閉鎖遅延 | 顔面中部後退 | 骨ミネラル濃度の増加 | 高口蓋 | 齲歯" ] }, { "id": "NANDO:2200702", "label_en": "MHC class II deficiency", "label_ja": "MHCクラスII欠損症", "yomigana": "えむえいちしーくらす2けっそんしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200702", "notificationNumber": "37", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100203", "symptoms_en_list": [ "Abnormal facial shape | Abnormality of humoral immunity | Acute otitis media | Autoimmune hemolytic anemia | Autoimmune neutropenia | Autoimmune thrombocytopenia | Autoimmunity | Chronic hepatitis due to cryptosporidium infection | Decreased circulating immunoglobulin concentration | Decreased total T cell count | Decreased total neutrophil count | Diarrhea | Dysarthria | Failure to thrive | Gait ataxia | Pancytopenia | Panhypogammaglobulinemia | Protracted diarrhea | Recurrent Candida infection | Recurrent Staphylococcus aureus infection | Recurrent bacterial infections | Recurrent fungal infections | Recurrent herpes | Recurrent infection of the gastrointestinal tract | Recurrent mucocutaneous candidiasis | Recurrent protozoan infections | Recurrent respiratory infections | Recurrent viral infections | Rhinitis | Sinusitis | Skin rash | obsolete Absent cellular immunity" ], "symptoms_ja_list": [ "T リンパ球減少症 | クリプトスポリジウム感染による慢性肝炎 | ヘルペスウイルスへの感受性 | 下痢 | 低ガンマグロブリン血症 | 副鼻腔炎 | 反復性ウイルス感染症 | 反復性カビ感染症 | 反復性カンジダ感染症 | 反復性原虫感染症 | 反復性呼吸器感染症 | 反復性細菌感染症 | 反復性黄色ブドウ球菌感染症 | 好中球減少症 | 急性中耳炎 | 慢性粘膜皮膚カンジダ症 | 成長障害 (成長不全) | 構音障害 | 歩行失調 | 汎低ガンマグロブリン血症 | 汎血球減少症 | 液性免疫の異常 | 異常な顔の形 | 皮膚発疹 | 細胞免疫の欠損 | 胃腸管の反復感染症 | 自己免疫 | 自己免疫性好中球減少症 | 自己免疫性溶血性貧血 | 自己免疫性血小板減少 | 遷延性下痢 | 鼻炎" ] }, { "id": "NANDO:2200591", "label_en": "Other disorders of purine and pyrimidine metabolism", "label_ja": "114から118までに掲げるもののほか、プリンピリミジン代謝異常症", "yomigana": "114から118までにかかげるもののほか、ぷりんぴりみじんたいしゃいじょうしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200591", "notificationNumber": "80", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100168", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2201271", "label_en": "Idiopathic autoimmune hemolytic anemia", "label_ja": "特発性自己免疫性溶血性貧血", "yomigana": "とくはつせいじこめんえきせいようけつせいひんけつ", "url": "http://nanbyodata.jp/ontology/NANDO_2201271", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100181", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200044", "label_en": "Clear cell sarcoma of the kidney", "label_ja": "腎明細胞肉腫", "yomigana": "じんめいさいぼうにくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_2200044", "notificationNumber": "23", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100006", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200541", "label_en": "Glycogen storage disease type V", "label_ja": "糖原病V型", "yomigana": "とうげんびょう5がた", "url": "http://nanbyodata.jp/ontology/NANDO_2200541", "notificationNumber": "66", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100164", "symptoms_en_list": [ "Acute kidney injury | Autosomal recessive inheritance | Childhood onset | Chronic kidney disease | Dysphagia | Elevated circulating creatine kinase activity | Exercise intolerance | Exercise-induced muscle cramps | Exercise-induced muscle stiffness | Exercise-induced myalgia | Exercise-induced myoglobinuria | Exercise-induced rhabdomyolysis | Exertional dyspnea | Fatigue | Hypertrophic cardiomyopathy | Hyperuricemia | Impaired mastication | Increased muscle glycogen content | Juvenile onset | Middle age onset | Muscle weakness | Myoglobinuria | Progressive proximal muscle weakness | Recurrent myoglobinuria | Rhabdomyolysis | Skeletal muscle atrophy | Tachycardia" ], "symptoms_ja_list": [ "ミオグロビン尿 | 反復性ミオグロビン尿 | 咀嚼こんな | 嚥下障害 | 常染色体潜性遺伝 | 急性腎外傷 | 慢性腎疾患 | 横紋筋融解 | 疲労 | 筋グリコーゲン量増加 | 筋萎縮 | 筋虚弱 | 肥大型心筋症 | 血清 creatine phosphokinase上昇 | 進行性近位筋虚弱 | 運動不耐症 | 運動性呼吸困難 | 運動誘発性ミオグロビン尿 | 運動誘発性横紋筋融解 | 運動誘発性筋けいれん | 運動誘発性筋痛 | 運動誘発性筋硬直 | 頻拍 | 高尿酸血症" ] }, { "id": "NANDO:1201000", "label_en": "Anterior segment dysgenesis", "label_ja": "前眼部形成異常", "yomigana": "ぜんがんぶけいせいいじょう", "url": "http://nanbyodata.jp/ontology/NANDO_1201000", "notificationNumber": "328", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100011", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200757", "label_en": "Wolfram syndrome", "label_ja": "ウォルフラム症候群", "yomigana": "うぉるふらむしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200757", "notificationNumber": "233", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100009", "symptoms_en_list": [ "Abnormal autonomic nervous system physiology | Abnormal mesentery morphology | Abnormality of the urinary system | Anemia | Ataxia | Atypical behavior | Cardiomyopathy | Central apnea | Cerebral cortical atrophy | Constipation | Delayed puberty | Dementia | Developmental regression | Diabetes insipidus | Diabetes mellitus | Dysarthria | Dysuria | Feeding difficulties in infancy | Gastric ulcer | Gastrointestinal hemorrhage | Glaucoma | Hallucinations | Hypogonadism | Intellectual disability | Joint stiffness | Malabsorption | Male hypogonadism | Myopathy | Nephropathy | Nystagmus | Ophthalmoplegia | Optic atrophy | Peripheral neuropathy | Polydipsia | Recurrent urinary tract infections | Respiratory insufficiency | Seizure | Sensorineural hearing impairment | Sleep disturbance" ], "symptoms_ja_list": [ "Dementia | ミオパチー | 中枢性無呼吸 | 便秘 | 反復性尿路感染症 | 吸収障害 | 呼吸不全 | 多飲 | 大脳皮質萎縮 | 尿崩症 | 尿路異常 | 幻覚 | 心筋症 | 思春期遅発 | 性腺機能低下症 | 感音難聴 | 排尿障害 | 末梢神経ニューロパチー | 構音障害 | 男性性腺機能低下症 | 異常な自律神経生理 | 発作 | 発達退行 | 眼振 | 眼筋麻痺 | 睡眠障害 | 知的障害 | 糖尿病 | 緑内障 | 胃潰瘍 | 胃腸出血 | 腎症 | 腸間膜の異常 | 行動異常 | 視神経萎縮 | 貧血 | 運動失調 | 関節拘縮 | 食餌摂取障害 in infancy" ] }, { "id": "NANDO:1200461", "label_en": "Rubinstein-Taybi syndrome", "label_ja": "ルビンシュタイン・テイビ症候群", "yomigana": "るびんしゅたいん・ていびしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_1200461", "notificationNumber": "102", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100014", "symptoms_en_list": [ "Abnormal cardiovascular system morphology | Abnormal corpus callosum morphology | Abnormal distal phalanx morphology of finger | Abnormal heart morphology | Abnormal pulmonary interstitial morphology | Abnormality of the dentition | Abnormality of the genitourinary system | Anxiety | Aplasia/Hypoplasia of the cerebellar vermis | Atrial septal defect | Attention deficit hyperactivity disorder | Atypical behavior | Atypical scarring of skin | Autistic behavior | Avascular necrosis of the capital femoral epiphysis | Brachydactyly | Broad hallux phalanx | Broad thumb | Capillary hemangioma | Carious teeth | Cataract | Chiari malformation | Clinodactyly of the 5th finger | Clubbing of toes | Coloboma | Constipation | Convex nasal ridge | Cryptorchidism | Delayed speech and language development | Dental crowding | Downslanted palpebral fissures | Epicanthus | Failure to thrive in infancy | Feeding difficulties in infancy | Finger syndactyly | Generalized hirsutism | Glaucoma | Global developmental delay | Hearing impairment | High palate | Highly arched eyebrow | Hip dysplasia | Hypertelorism | Intellectual disability | Irritability | Joint hypermobility | Keloids | Low-set ears | Microcephaly | Micrognathia | Nasolacrimal duct obstruction | Obesity | Polyhydramnios | Ptosis | Recurrent infections | Respiratory distress | Respiratory insufficiency | Seizure | Short stature | Sleep apnea | Strabismus | Talon cusp | Telecanthus | Wide nasal bridge" ], "symptoms_ja_list": [ "Arnold-Chiari 奇形 | ばち趾 | ケロイド | コロボーマ | 不安 | 両眼隔離 | 乳児期の成長障害 (成長不全) | 低身長 | 便秘 | 停留精巣 | 全般性発達遅滞 | 全身性多毛 | 内眼角外方偏位 | 内眼角贅皮 | 凸の鼻梁 | 反復性感染症 | 合指症 | 呼吸不全 | 呼吸窮迫 | 大腿骨骨頭骨端の無血管性壊死 | 小脳虫部無形成/低形成 | 小頭 | 小顎 | 幅広い母指 | 幅広い母趾趾骨 | 幅広い鼻梁 | 循環器系の形態異常 | 心形態の異常 | 心房中隔欠損 | 指の末節骨の異常 | 斜視 | 歯の異常 | 歯混雑 | 毛細血管血管腫 | 泌尿生殖器異常 | 注意力欠陥多動性疾患 | 発作 | 発語および言語発達遅延 | 白内障 | 眼瞼下垂 | 眼瞼裂斜下 | 睡眠時無呼吸 | 知的障害 | 短指症候群 | 第5指弯指 | 緑内障 | 羊水過多 | 耳介低位 | 股関節異形成 | 肥満 | 脳梁の異常 | 自閉性行動 | 行動異常 | 被刺激性 | 距錐咬頭 | 間質性肺疾患 | 関節過動 | 難聴 | 非典型的皮膚瘢痕 | 食餌摂取障害 in infancy | 高位の弓形眉毛 | 高口蓋 | 鼻涙管閉塞 | 齲歯" ] }, { "id": "NANDO:1200643", "label_en": "Pseudoxanthoma elasticum", "label_ja": "弾性線維性仮性黄色腫", "yomigana": "だんせいせんいせいかせいおうしょくしゅ", "url": "http://nanbyodata.jp/ontology/NANDO_1200643", "notificationNumber": "166", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1201025", "label_en": "Multifocal chronic inflammatory demyelinating polyneuropathy", "label_ja": "多相性慢性炎症性脱髄性多発神経炎", "yomigana": "たそうせいまんせいえんしょうせいだつずいせいたはつしんけいえん", "url": "http://nanbyodata.jp/ontology/NANDO_1201025", "notificationNumber": "14", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100001", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200872", "label_en": "Minicore myopathy", "label_ja": "ミニコア病", "yomigana": "みにこあびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200872", "notificationNumber": "55", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100234", "symptoms_en_list": [ "Abnormal respiratory system physiology | Abnormal skeletal muscle morphology | Areflexia | Autosomal recessive inheritance | Axial muscle weakness | Centrally nucleated skeletal muscle fibers | Childhood onset | Congenital onset | Cryptorchidism | Decreased fetal movement | Difficulty running | Edema | Exercise-induced myalgia | External ophthalmoplegia | Facial diplegia | Facial palsy | Feeding difficulties | Feeding difficulties in infancy | Flexion contracture | Generalized hypotonia | Generalized muscle weakness | High palate | Hydrops fetalis | Hypertrophied muscle fibers | Hypotonia | Increased connective tissue | Increased variability in muscle fiber diameter | Joint hypermobility | Micropenis | Minicore myopathy | Motor delay | Muscle weakness | Muscular dystrophy | Myopathic facies | Narrow face | Nemaline bodies | Neonatal hypotonia | Neonatal onset | Pneumonia | Polyhydramnios | Proximal muscle weakness | Ptosis | Pulmonary hypoplasia | Recurrent respiratory infections | Respiratory failure | Respiratory insufficiency | Scoliosis | Severe postnatal growth retardation | Shoulder girdle muscle weakness | Skeletal muscle atrophy | Small scrotum | Sternocleidomastoid amyotrophy | Tented upper lip vermilion | Tibialis anterior muscle atrophy | Type 1 and type 2 muscle fiber minicore regions | Type 1 muscle fiber atrophy | Type 1 muscle fiber predominance" ], "symptoms_ja_list": [ "1型および２型 筋線維ミニコア領域 | 1型筋線維有意 | 1型筋線維萎縮 | テント状上口唇唇紅部 | ネマリン小体 | ミオパチー顔貌 | ミニコア (マルチコア) ミオパチー | 中央核骨格筋線維 | 停留精巣 | 側弯 | 全身性筋緊張低下 | 全身性筋虚弱 | 反復性呼吸器感染症 | 呼吸不全 | 外眼筋麻痺 | 小陰茎 | 屈曲拘縮 | 常染色体潜性遺伝 | 新生児筋緊張低下 | 機能的呼吸異常 | 浮腫 | 無反射 | 狭い顔 | 眼瞼下垂 | 筋ジストロフィー | 筋形態の異常 | 筋緊張低下 | 筋線維直径の多様性増加 | 筋線維肥大 | 筋萎縮 | 筋虚弱 | 結合織増加 | 羊水過多 | 肩帯筋虚弱 | 肺低形成 | 肺炎 | 胎児水腫 | 胎動減少 | 胸鎖乳突筋筋萎縮 | 脛骨筋萎縮 | 走行困難 | 軸性筋虚弱 | 近位筋虚弱 | 運動発達遅滞 | 運動誘発性筋痛 | 重度の生後の成長遅滞 | 関節過動 | 陰嚢低形成 | 顔面両麻痺 | 顔面麻痺 | 食餌摂取障害 | 食餌摂取障害 in infancy | 高口蓋" ] }, { "id": "NANDO:2201404", "label_en": "PCDH19-related syndrome", "label_ja": "PCDH19関連症候群", "yomigana": "ぴーしーでぃーえいち19かんれんしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2201404", "notificationNumber": "75", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100236", "symptoms_en_list": [ "Aggressive behavior | Atonic seizure | Attention deficit hyperactivity disorder | Autistic behavior | Bilateral tonic-clonic seizure | Childhood onset | Developmental regression | Focal hemiclonic seizure | Focal-onset seizure | Generalized myoclonic seizure | Generalized non-motor (absence) seizure | Global developmental delay | Infantile onset | Intellectual disability | Moderate intellectual disability | Psychosis | Status epilepticus | Ventriculomegaly | X-linked inheritance" ], "symptoms_ja_list": [ "X連鎖遺伝 | てんかん重積 | 全般性発達遅滞 | 全身性ミオクローヌス発作 | 全身性間代性強直性発作 | 攻撃的行動 | 欠神発作 | 注意力欠陥多動性疾患 | 焦点性発作 | 片側間代性発作 | 発達退行 | 知的障害 | 知的障害", "中道動脈瘤 | 精神病 | 脱力発作 | 脳室拡大 | 自閉性行動" ] }, { "id": "NANDO:2201336", "label_en": "Pfeiffer syndrome (sagittal synostosis)", "label_ja": "ファイファー症候群（矢状縫合）", "yomigana": "ふぁいふぁーしょうこうぐん（しじょうほうごう）", "url": "http://nanbyodata.jp/ontology/NANDO_2201336", "notificationNumber": "32", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100280", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200392", "label_en": "Other disorders of sex development of 46,XY", "label_ja": "68から70までに掲げるもののほか、46,XY性分化疾患", "yomigana": "68から70までにかかげるもののほか、46,えっくすわいせいぶんかしっかん", "url": "http://nanbyodata.jp/ontology/NANDO_2200392", "notificationNumber": "50", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100140", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200192", "label_en": "Glottic stenosis", "label_ja": "声門狭窄症", "yomigana": "せいもんきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200192", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200350", "label_en": "Cushing disease", "label_ja": "クッシング病", "yomigana": "くっしんぐびょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200350", "notificationNumber": "11", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100127", "symptoms_en_list": [ "Abdominal obesity | Abnormal fear-induced behavior | Abnormality of the cardiovascular system | Abnormality of the respiratory system | Acne | Adrenal hyperplasia | Alkalosis | Amenorrhea | Atypical behavior | Autosomal dominant inheritance | Autosomal recessive inheritance | Avascular necrosis | Biconcave vertebral bodies | Bruising susceptibility | Decreased total lymphocyte count | Dementia | Depression | Diabetes mellitus | Edema | Emotional lability | Facial erythema | Glucose intolerance | Headache | Hirsutism | Hyperpigmentation of the skin | Hypertension | Hypokalemia | Immunodeficiency | Increased body weight | Increased circulating ACTH level | Increased circulating cortisol level | Increased total leukocyte count | Increased urinary cortisol level | Intra-oral hyperpigmentation | Kidney stone | Kyphosis | Large sella turcica | Memory impairment | Muscle weakness | Myocardial infarction | Obesity | Oligomenorrhea | Optic nerve compression | Osteoporosis | Paradoxical increased cortisol secretion on dexamethasone suppression test | Paranoia | Pedal edema | Pituitary adenoma | Pituitary corticotropic cell adenoma | Plethora | Poor wound healing | Proximal amyotrophy | Psychosis | Psychotic episodes | Psychotic mentation | Purpura | Recurrent cutaneous fungal infections | Secondary amenorrhea | Skeletal muscle atrophy | Skin ulcer | Sparse scalp hair | Striae distensae | Stroke | Thin skin | Truncal obesity | Vertebral compression fracture | Visual field defect" ], "symptoms_ja_list": [ "?瘡 | Dementia | うつ | アルカローシス | デキサメサゾン抑制試験での逆説的コルチゾール分泌の増加 | パラノイア | リンパ球減少症 | 下垂体副腎皮質刺激ホルモン分泌細胞腺腫 | 下垂体腺腫 | 両凹の椎体骨 | 二次性無月経 | 伸展線 | 低カリウム血症 | 体幹肥満 | 体重増加 | 傷治癒不全 | 免疫不全 | 出血傾向 | 副腎過形成 | 卒中 | 反復性皮膚カビ感染症 | 口腔内高色素 | 呼吸器の異常 | 多毛 | 多血症 | 大きなトルコ鞍 | 尿中コルチゾール 値増加 | 希発月経 | 常染色体潜性遺伝 | 常染色体顕性遺伝 | 後弯 | 循環性ACTH 値増加 | 循環性コルチゾール 値増加 | 心筋梗塞 | 心血管系 | 情動不安定 | 浮腫 | 浮腫 (下肢) | 無月経 | 無菌性壊死 | 異常な恐怖/不安関連行動 | 疎な頭髪 | 白血球増多症 | 皮膚潰瘍 | 皮膚高色素 | 筋萎縮 | 筋虚弱 | 精神病 | 精神病エピソード | 精神病的精神機能 | 糖尿病 | 紫斑 | 耐糖能異常 | 肥満 | 脊椎圧迫骨折 | 腎結石 | 腹部肥満 | 薄い皮膚 | 行動異常 | 視神経神経圧迫 | 視野障害 | 記憶障害 | 近位筋萎縮 | 頭痛 | 顔面紅斑 | 骨粗鬆症 | 高血圧" ] }, { "id": "NANDO:1200882", "label_en": "Giant venous malformation (cervical, oral and oropharyngeal diffuse lesion)", "label_ja": "巨大静脈奇形（頚部口腔咽頭びまん性病変）", "yomigana": "きょだいじょうみゃくきけい（けいぶこうくういんとうびまんせいびょうへん）", "url": "http://nanbyodata.jp/ontology/NANDO_1200882", "notificationNumber": "279", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100005", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200610", "label_en": "Keratinopathic ichthyosis", "label_ja": "ケラチン症性魚鱗癬", "yomigana": "けらちんしょうせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_1200610", "notificationNumber": "160", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100003", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200988", "label_en": "Autosomal dominant epidermolytic ichthyosis", "label_ja": "常染色体優性表皮融解性魚鱗癬", "yomigana": "じょうせんしょくたいゆうせいひょうひゆうかいせいぎょりんせん", "url": "http://nanbyodata.jp/ontology/NANDO_2200988", "notificationNumber": "5", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100283", "symptoms_en_list": [ "Abnormal blistering of the skin | Congenital bullous ichthyosiform erythroderma | Conjunctival hamartoma | Cutaneous photosensitivity | Erythroderma | Hyperkeratosis | Ichthyosis | Palmoplantar keratoderma | Poor appetite | Skin ulcer | Weight loss" ], "symptoms_ja_list": [ "体重喪失 | 先天性水泡性魚鱗癬型紅皮症 | 掌蹠角皮症 | 異常な皮膚水泡 | 皮膚光線過敏症 | 皮膚潰瘍 | 紅皮症 | 結膜過誤腫 | 過角化症 | 食思不振 | 魚鱗癬" ] }, { "id": "NANDO:2200193", "label_en": "Subglottic stenosis", "label_ja": "声門下狭窄症", "yomigana": "せいもんかきょうさくしょう", "url": "http://nanbyodata.jp/ontology/NANDO_2200193", "notificationNumber": "6", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100030", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:2200157", "label_en": "Potter syndrome", "label_ja": "ポッター症候群", "yomigana": "ぽったーしょうこうぐん", "url": "http://nanbyodata.jp/ontology/NANDO_2200157", "notificationNumber": "12", "obsolete": "", "category": "syoman", "group": "http://nanbyodata.jp/ontology/NANDO_2100024", "symptoms_en_list": [], "symptoms_ja_list": [] }, { "id": "NANDO:1200263", "label_en": "Granulomatosis with polyangiitis", "label_ja": "多発血管炎性肉芽腫症", "yomigana": "たはつけっかんえんせいにくげしゅしょう", "url": "http://nanbyodata.jp/ontology/NANDO_1200263", "notificationNumber": "44", "obsolete": "", "category": "shitei", "group": "http://nanbyodata.jp/ontology/NANDO_1100004", "symptoms_en_list": [ "Abdominal pain | Abnormal oral cavity morphology | Abnormality of the hypothalamus-pituitary axis | Abnormality of the nose | Angina pectoris | Arrhythmia | Arthralgia | Arthritis | Autoimmunity | Cerebral ischemia | Chest pain | Chronic otitis media | Chronic pulmonary obstruction | Concave nasal ridge | Conjunctivitis | Cough | Cranial nerve paralysis | Diabetes insipidus | Elevated circulating C-reactive protein concentration | Elevated erythrocyte sedimentation rate | Episcleritis | Epistaxis | Fatigue | Fever | Gangrene | Gastrointestinal hemorrhage | Glomerulonephritis | Glomerulopathy | Granulomatosis | Headache | Hematuria | Hemiplegia | Hemoptysis | Hydronephrosis | Hypertension | Increased inflammatory response | Inflammatory abnormality of the eye | Intestinal obstruction | Keratitis | Meningitis | Middle age onset | Myalgia | Nasolacrimal duct obstruction | Nausea and vomiting | Oral ulcer | Otitis media | Pancreatitis | Papule | Pericarditis | Periorbital edema | Peripheral neuropathy | Pleural effusion | Pleuritis | Polyarticular arthritis | Polygenic inheritance | Proptosis | Prostatitis | Proteinuria | Pulmonary fibrosis | Pulmonary infiltrates | Purpura | Recurrent intrapulmonary hemorrhage | Recurrent respiratory infections | Renal insufficiency | Respiratory insufficiency | Restrictive ventilatory defect | Retinal hemorrhage | Retinopathy | Scleritis | Seizure | Sensorineural hearing impairment | Sensory neuropathy | Sinusitis | Skin rash | Skin ulcer | Subglottic stenosis | Tracheal stenosis | Ureteral stenosis | Uveitis | Vasculitis | Venous thrombosis | Visual impairment | Weight loss" ], "symptoms_ja_list": [ "CRP 上昇 | ブドウ膜炎 | 上強膜炎 | 不整脈 | 丘疹 | 中耳炎 | 体重喪失 | 共通 | 前立腺炎 | 副鼻腔炎 | 反復性呼吸器感染症 | 反復性肺内出血 | 口腔の異常 | 口腔潰瘍 | 吐気と 嘔吐 | 呼吸不全 | 喀血 | 壊疽 | 声門下狭窄 | 外層 | 多因子遺伝 | 多関節関節炎 | 大脳虚血 | 尿崩症 | 尿管狭窄 | 心外膜炎 | 感覚ニューロパチー | 感音難聴 | 慢性中耳炎 | 慢性閉塞性肺疾患 | 拘束性肺疾患 | 末梢神経ニューロパチー | 気管狭窄 | 水腎症 | 炎症反応増加 | 片麻痺 | 狭心症 | 疲労 | 発作 | 発熱 | 皮膚潰瘍 | 皮膚発疹 | 眼の炎症性異常 | 眼球突出 | 眼窩周囲浮腫 | 窪んだ鼻梁 | 筋痛 | 糸球体症 | 糸球体腎炎 | 紫斑 | 結膜炎 | 網膜出血 | 網膜症 | 肉芽腫症 | 肺浸潤 | 肺線維症 | 胃腸出血 | 胸膜滲出液 | 胸膜炎 | 脳神経麻痺 | 腎不全 | 腸閉塞 | 腹痛 | 膵炎 | 自己免疫 | 蛋白尿 | 血尿 | 血管炎 | 視力障害 | 視床下部-下垂体軸異常 | 角膜炎 | 赤沈値上昇 | 関節炎 | 関節痛 | 静脈血栓症 | 頭痛 | 髄膜炎 | 高血圧 | 鼻の異常 | 鼻出血 | 鼻涙管閉塞" ] } ]