id uid type parent displayid property kegg_label_ja kegg_label_en kegg_url NANDO:1200010 http://nanbyodata.jp/ontology/NANDO_1200010 parent H00057 NANDO:1200010 H00057 http://www.geneontology.org/formats/oboInOwl#hasDbXref パーキンソン病 Parkinson disease https://identifiers.org/kegg.disease:H00057 NANDO:1200012 http://nanbyodata.jp/ontology/NANDO_1200012 parent H00059 NANDO:1200012 H00059 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハンチントン病 Huntington disease https://identifiers.org/kegg.disease:H00059 NANDO:1200009 http://nanbyodata.jp/ontology/NANDO_1200009 parent H00077 NANDO:1200009 H00077 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性核上性麻痺 Progressive supranuclear palsy https://identifiers.org/kegg.disease:H00077 H00077 NANDO:1200009 H00077 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性核上性麻痺 Steele-Richardson-Olszewski syndrome https://identifiers.org/kegg.disease:H00077 NANDO:1200157 http://nanbyodata.jp/ontology/NANDO_1200157 parent H00125 NANDO:1200157 H00125 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファブリー病 Fabry disease https://identifiers.org/kegg.disease:H00125 H00125 NANDO:1200157 H00125 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファブリー病 Anderson-Fabry disease https://identifiers.org/kegg.disease:H00125 NANDO:1200056 http://nanbyodata.jp/ontology/NANDO_1200056 parent H00126 NANDO:1200056 H00126 http://www.geneontology.org/formats/oboInOwl#hasDbXref ゴーシェ病 Gaucher disease https://identifiers.org/kegg.disease:H00126 NANDO:1200078 http://nanbyodata.jp/ontology/NANDO_1200078 parent H00127 NANDO:1200078 H00127 http://www.geneontology.org/formats/oboInOwl#hasDbXref 異染性白質ジストロフィー Metachromatic leukodystrophy https://identifiers.org/kegg.disease:H00127 NANDO:1200097 http://nanbyodata.jp/ontology/NANDO_1200097 parent H00129 NANDO:1200097 H00129 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハンター症候群 Hunter syndrome https://identifiers.org/kegg.disease:H00129 H00129 NANDO:1200097 H00129 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 II 型 Hunter syndrome https://identifiers.org/kegg.disease:H00129 H00129 NANDO:1200097 H00129 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハンター症候群 Mucopolysaccharidosis type II https://identifiers.org/kegg.disease:H00129 H00129 NANDO:1200097 H00129 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 II 型 Mucopolysaccharidosis type II https://identifiers.org/kegg.disease:H00129 NANDO:1200108 http://nanbyodata.jp/ontology/NANDO_1200108 parent H00131 NANDO:1200108 H00131 http://www.geneontology.org/formats/oboInOwl#hasDbXref マロトー・ラミー症候群 Maroteaux-Lamy syndrome https://identifiers.org/kegg.disease:H00131 H00131 NANDO:1200108 H00131 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 VI 型 Maroteaux-Lamy syndrome https://identifiers.org/kegg.disease:H00131 H00131 NANDO:1200108 H00131 http://www.geneontology.org/formats/oboInOwl#hasDbXref マロトー・ラミー症候群 Mucopolysaccharidosis type VI https://identifiers.org/kegg.disease:H00131 H00131 NANDO:1200108 H00131 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 VI 型 Mucopolysaccharidosis type VI https://identifiers.org/kegg.disease:H00131 NANDO:1200111 http://nanbyodata.jp/ontology/NANDO_1200111 parent H00132 NANDO:1200111 H00132 http://www.geneontology.org/formats/oboInOwl#hasDbXref スライ症候群 Mucopolysaccharidosis type VII https://identifiers.org/kegg.disease:H00132 H00132 NANDO:1200111 H00132 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 VII 型 Mucopolysaccharidosis type VII https://identifiers.org/kegg.disease:H00132 H00132 NANDO:1200111 H00132 http://www.geneontology.org/formats/oboInOwl#hasDbXref スライ症候群 Sly syndrome https://identifiers.org/kegg.disease:H00132 H00132 NANDO:1200111 H00132 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 VII 型 Sly syndrome https://identifiers.org/kegg.disease:H00132 NANDO:1200115 http://nanbyodata.jp/ontology/NANDO_1200115 parent H00133 NANDO:1200115 H00133 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヒアルロニダーゼ欠損症 Hyaluronidase deficiency https://identifiers.org/kegg.disease:H00133 H00133 NANDO:1200115 H00133 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 IX 型 Hyaluronidase deficiency https://identifiers.org/kegg.disease:H00133 H00133 NANDO:1200115 H00133 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヒアルロニダーゼ欠損症 Mucopolysaccharidosis type IX https://identifiers.org/kegg.disease:H00133 H00133 NANDO:1200115 H00133 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 IX 型 Mucopolysaccharidosis type IX https://identifiers.org/kegg.disease:H00133 NANDO:1200074 http://nanbyodata.jp/ontology/NANDO_1200074 parent H00135 NANDO:1200074 H00135 http://www.geneontology.org/formats/oboInOwl#hasDbXref クラッベ病 Krabbe disease https://identifiers.org/kegg.disease:H00135 H00135 NANDO:1200074 H00135 http://www.geneontology.org/formats/oboInOwl#hasDbXref グロボイド細胞白質ジストロフィー Krabbe disease https://identifiers.org/kegg.disease:H00135 H00135 NANDO:1200074 H00135 http://www.geneontology.org/formats/oboInOwl#hasDbXref クラッベ病 Globoid cell leukodystrophy https://identifiers.org/kegg.disease:H00135 H00135 NANDO:1200074 H00135 http://www.geneontology.org/formats/oboInOwl#hasDbXref グロボイド細胞白質ジストロフィー Globoid cell leukodystrophy https://identifiers.org/kegg.disease:H00135 NANDO:1200063 http://nanbyodata.jp/ontology/NANDO_1200063 parent H00136 NANDO:1200063 H00136 http://www.geneontology.org/formats/oboInOwl#hasDbXref ニーマン・ピック病 C 型 Niemann-Pick disease type C https://identifiers.org/kegg.disease:H00136 NANDO:1200086 http://nanbyodata.jp/ontology/NANDO_1200086 parent H00138 NANDO:1200086 H00138 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファーバー病 Farber disease https://identifiers.org/kegg.disease:H00138 H00138 NANDO:1200086 H00138 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファーバー脂肪性肉芽腫症 Farber disease https://identifiers.org/kegg.disease:H00138 H00138 NANDO:1200086 H00138 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファーバー病 Farber lipogranulomatosis https://identifiers.org/kegg.disease:H00138 H00138 NANDO:1200086 H00138 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファーバー脂肪性肉芽腫症 Farber lipogranulomatosis https://identifiers.org/kegg.disease:H00138 NANDO:1200126 http://nanbyodata.jp/ontology/NANDO_1200126 parent H00139 NANDO:1200126 H00139 http://www.geneontology.org/formats/oboInOwl#hasDbXref α-マンノシドーシス alpha-Mannosidosis https://identifiers.org/kegg.disease:H00139 NANDO:1200129 http://nanbyodata.jp/ontology/NANDO_1200129 parent H00140 NANDO:1200129 H00140 http://www.geneontology.org/formats/oboInOwl#hasDbXref β-マンノシドーシス beta-Mannosidosis https://identifiers.org/kegg.disease:H00140 NANDO:1200116 http://nanbyodata.jp/ontology/NANDO_1200116 parent H00142 NANDO:1200116 H00142 http://www.geneontology.org/formats/oboInOwl#hasDbXref シアリドーシス Sialidosis https://identifiers.org/kegg.disease:H00142 H00142 NANDO:1200116 H00142 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス 1 型 Sialidosis https://identifiers.org/kegg.disease:H00142 H00142 NANDO:1200116 H00142 http://www.geneontology.org/formats/oboInOwl#hasDbXref シアリドーシス Mucolipidosis I https://identifiers.org/kegg.disease:H00142 H00142 NANDO:1200116 H00142 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス 1 型 Mucolipidosis I https://identifiers.org/kegg.disease:H00142 NANDO:1200124 http://nanbyodata.jp/ontology/NANDO_1200124 parent H00143 NANDO:1200124 H00143 http://www.geneontology.org/formats/oboInOwl#hasDbXref I 細胞病 I-cell disease https://identifiers.org/kegg.disease:H00143 H00143 NANDO:1200124 H00143 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス II 型 I-cell disease https://identifiers.org/kegg.disease:H00143 H00143 NANDO:1200124 H00143 http://www.geneontology.org/formats/oboInOwl#hasDbXref I 細胞病 Mucolipidosis II https://identifiers.org/kegg.disease:H00143 H00143 NANDO:1200124 H00143 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス II 型 Mucolipidosis II https://identifiers.org/kegg.disease:H00143 NANDO:1200133 http://nanbyodata.jp/ontology/NANDO_1200133 parent H00145 NANDO:1200133 H00145 http://www.geneontology.org/formats/oboInOwl#hasDbXref アスパルチルグルコサミン尿症 Aspartylglucosaminuria https://identifiers.org/kegg.disease:H00145 NANDO:1200165 http://nanbyodata.jp/ontology/NANDO_1200165 parent H00176 NANDO:1200165 H00176 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副腎白質ジストロフィー Adrenoleukodystrophy https://identifiers.org/kegg.disease:H00176 NANDO:1200016 http://nanbyodata.jp/ontology/NANDO_1200016 parent H00264 NANDO:1200016 H00264 http://www.geneontology.org/formats/oboInOwl#hasDbXref シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease https://identifiers.org/kegg.disease:H00264 H00264 NANDO:1200016 H00264 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性運動感覚ニューロパチー Charcot-Marie-Tooth disease https://identifiers.org/kegg.disease:H00264 H00264 NANDO:1200016 H00264 http://www.geneontology.org/formats/oboInOwl#hasDbXref シャルコー・マリー・トゥース病 Hereditary motor and sensory neuropathy https://identifiers.org/kegg.disease:H00264 H00264 NANDO:1200016 H00264 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性運動感覚ニューロパチー Hereditary motor and sensory neuropathy https://identifiers.org/kegg.disease:H00264 NANDO:1200052 http://nanbyodata.jp/ontology/NANDO_1200052 parent H00266 NANDO:1200052 H00266 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性痙性対麻痺 Hereditary spastic paraplegia https://identifiers.org/kegg.disease:H00266 NANDO:1200083 http://nanbyodata.jp/ontology/NANDO_1200083 parent H00272 NANDO:1200083 H00272 http://www.geneontology.org/formats/oboInOwl#hasDbXref マルチプルスルファターゼ欠損症 Multiple sulfatase deficiency https://identifiers.org/kegg.disease:H00272 NANDO:1200161 http://nanbyodata.jp/ontology/NANDO_1200161 parent H00275 NANDO:1200161 H00275 http://www.geneontology.org/formats/oboInOwl#hasDbXref シスチン症 Cystinosis https://identifiers.org/kegg.disease:H00275 NANDO:1200119 http://nanbyodata.jp/ontology/NANDO_1200119 parent H00276 NANDO:1200119 H00276 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトシアリドーシス Galactosialidosis https://identifiers.org/kegg.disease:H00276 H00276 NANDO:1200119 H00276 http://www.geneontology.org/formats/oboInOwl#hasDbXref ノイラミダーゼ欠損および β-ガラクトシダーゼ欠損症 Galactosialidosis https://identifiers.org/kegg.disease:H00276 H00276 NANDO:1200119 H00276 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトシアリドーシス Neuraminidase deficiency with beta-galactosidase deficiency https://identifiers.org/kegg.disease:H00276 H00276 NANDO:1200119 H00276 http://www.geneontology.org/formats/oboInOwl#hasDbXref ノイラミダーゼ欠損および β-ガラクトシダーゼ欠損症 Neuraminidase deficiency with beta-galactosidase deficiency https://identifiers.org/kegg.disease:H00276 NANDO:1200066 http://nanbyodata.jp/ontology/NANDO_1200066 parent H00281 NANDO:1200066 H00281 http://www.geneontology.org/formats/oboInOwl#hasDbXref GM1 ガングリオシドーシス GM1 gangliosidosis https://identifiers.org/kegg.disease:H00281 NANDO:1200003 http://nanbyodata.jp/ontology/NANDO_1200003 parent H00455 NANDO:1200003 H00455 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脊髄性筋萎縮症 Spinal muscular atrophy https://identifiers.org/kegg.disease:H00455 NANDO:1200015 http://nanbyodata.jp/ontology/NANDO_1200015 parent H00655 NANDO:1200015 H00655 http://www.geneontology.org/formats/oboInOwl#hasDbXref McLeod 症候群 McLeod syndrome https://identifiers.org/kegg.disease:H00655 NANDO:1200021 http://nanbyodata.jp/ontology/NANDO_1200021 parent H00770 NANDO:1200021 H00770 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性筋無力症候群 Congenital myasthenic syndrome https://identifiers.org/kegg.disease:H00770 NANDO:1200055 http://nanbyodata.jp/ontology/NANDO_1200055 parent H01425 NANDO:1200055 H01425 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライソゾーム病 (リソソーム蓄積症) Lysosomal storage disease https://identifiers.org/kegg.disease:H01425 NANDO:1200014 http://nanbyodata.jp/ontology/NANDO_1200014 parent H01432 NANDO:1200014 H01432 http://www.geneontology.org/formats/oboInOwl#hasDbXref 有棘赤血球を伴う舞踏病 Chorea-acanthocytosis https://identifiers.org/kegg.disease:H01432 H01432 NANDO:1200014 H01432 http://www.geneontology.org/formats/oboInOwl#hasDbXref 有棘赤血球を伴う舞踏病 Choreoacanthocytosis https://identifiers.org/kegg.disease:H01432 NANDO:1200033 http://nanbyodata.jp/ontology/NANDO_1200033 parent H01461 NANDO:1200033 H01461 http://www.geneontology.org/formats/oboInOwl#hasDbXref クロウ・深瀬症候群 Crow-Fukase syndrome https://identifiers.org/kegg.disease:H01461 H01461 NANDO:1200033 H01461 http://www.geneontology.org/formats/oboInOwl#hasDbXref POEMS 症候群 Crow-Fukase syndrome https://identifiers.org/kegg.disease:H01461 H01461 NANDO:1200033 H01461 http://www.geneontology.org/formats/oboInOwl#hasDbXref クロウ・深瀬症候群 POEMS syndrome https://identifiers.org/kegg.disease:H01461 H01461 NANDO:1200033 H01461 http://www.geneontology.org/formats/oboInOwl#hasDbXref POEMS 症候群 POEMS syndrome https://identifiers.org/kegg.disease:H01461 NANDO:1200023 http://nanbyodata.jp/ontology/NANDO_1200023 parent H01490 NANDO:1200023 H01490 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発性硬化症 Multiple sclerosis https://identifiers.org/kegg.disease:H01490 NANDO:1200027 http://nanbyodata.jp/ontology/NANDO_1200027 parent H01491 NANDO:1200027 H01491 http://www.geneontology.org/formats/oboInOwl#hasDbXref 視神経脊髄炎 Neuromyelitis optica https://identifiers.org/kegg.disease:H01491 H01491 NANDO:1200027 H01491 http://www.geneontology.org/formats/oboInOwl#hasDbXref デビック病 Neuromyelitis optica https://identifiers.org/kegg.disease:H01491 H01491 NANDO:1200027 H01491 http://www.geneontology.org/formats/oboInOwl#hasDbXref 視神経脊髄炎 Devic disease https://identifiers.org/kegg.disease:H01491 H01491 NANDO:1200027 H01491 http://www.geneontology.org/formats/oboInOwl#hasDbXref デビック病 Devic disease https://identifiers.org/kegg.disease:H01491 NANDO:1200032 http://nanbyodata.jp/ontology/NANDO_1200032 parent H01505 NANDO:1200032 H01505 http://www.geneontology.org/formats/oboInOwl#hasDbXref 封入体筋炎 Inclusion body myositis https://identifiers.org/kegg.disease:H01505 NANDO:1200030 http://nanbyodata.jp/ontology/NANDO_1200030 parent H01527 NANDO:1200030 H01527 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多巣性運動ニューロパチー Chronic inflammatory demyelinating polyradiculoneuropathy https://identifiers.org/kegg.disease:H01527 H01527 NANDO:1200030 H01527 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性炎症性脱髄性多発神経炎 Chronic inflammatory demyelinating polyradiculoneuropathy https://identifiers.org/kegg.disease:H01527 NANDO:1200031 http://nanbyodata.jp/ontology/NANDO_1200031 parent H01527 NANDO:1200031 H01527 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多巣性運動ニューロパチー Chronic inflammatory demyelinating polyradiculoneuropathy https://identifiers.org/kegg.disease:H01527 H01527 NANDO:1200031 H01527 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性炎症性脱髄性多発神経炎 Chronic inflammatory demyelinating polyradiculoneuropathy https://identifiers.org/kegg.disease:H01527 NANDO:1200020 http://nanbyodata.jp/ontology/NANDO_1200020 parent H01594 NANDO:1200020 H01594 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症筋無力症 Myasthenia gravis https://identifiers.org/kegg.disease:H01594 NANDO:1200034 http://nanbyodata.jp/ontology/NANDO_1200034 parent H01614 NANDO:1200034 H01614 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多系統萎縮症 Multiple system atrophy https://identifiers.org/kegg.disease:H01614 NANDO:1200037 http://nanbyodata.jp/ontology/NANDO_1200037 parent H01616 NANDO:1200037 H01616 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脊髄小脳変性症 Spinocerebellar degeneration https://identifiers.org/kegg.disease:H01616 NANDO:1200138 http://nanbyodata.jp/ontology/NANDO_1200138 parent H01940 NANDO:1200138 H01940 http://www.geneontology.org/formats/oboInOwl#hasDbXref ポンペ病 Pompe disease https://identifiers.org/kegg.disease:H01940 H01940 NANDO:1200138 H01940 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 II型 Pompe disease https://identifiers.org/kegg.disease:H01940 H01940 NANDO:1200138 H01940 http://www.geneontology.org/formats/oboInOwl#hasDbXref ポンペ病 Glycogen storage disease type II https://identifiers.org/kegg.disease:H01940 H01940 NANDO:1200138 H01940 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 II型 Glycogen storage disease type II https://identifiers.org/kegg.disease:H01940 NANDO:1200071 http://nanbyodata.jp/ontology/NANDO_1200071 parent H02016 NANDO:1200071 H02016 http://www.geneontology.org/formats/oboInOwl#hasDbXref テイ・サックス病 Tay-Sachs disease https://identifiers.org/kegg.disease:H02016 H02016 NANDO:1200071 H02016 http://www.geneontology.org/formats/oboInOwl#hasDbXref GM2 ガングリオシドーシス I 型 Tay-Sachs disease https://identifiers.org/kegg.disease:H02016 H02016 NANDO:1200071 H02016 http://www.geneontology.org/formats/oboInOwl#hasDbXref テイ・サックス病 GM2 gangliosidoses type I https://identifiers.org/kegg.disease:H02016 H02016 NANDO:1200071 H02016 http://www.geneontology.org/formats/oboInOwl#hasDbXref GM2 ガングリオシドーシス I 型 GM2 gangliosidoses type I https://identifiers.org/kegg.disease:H02016 NANDO:1200072 http://nanbyodata.jp/ontology/NANDO_1200072 parent H02017 NANDO:1200072 H02017 http://www.geneontology.org/formats/oboInOwl#hasDbXref サンドホフ病 Sandhoff disease https://identifiers.org/kegg.disease:H02017 H02017 NANDO:1200072 H02017 http://www.geneontology.org/formats/oboInOwl#hasDbXref GM2 ガングリオシドーシス II 型 Sandhoff disease https://identifiers.org/kegg.disease:H02017 H02017 NANDO:1200072 H02017 http://www.geneontology.org/formats/oboInOwl#hasDbXref サンドホフ病 GM2 gangliosidoses type II https://identifiers.org/kegg.disease:H02017 H02017 NANDO:1200072 H02017 http://www.geneontology.org/formats/oboInOwl#hasDbXref GM2 ガングリオシドーシス II 型 GM2 gangliosidoses type II https://identifiers.org/kegg.disease:H02017 NANDO:1200125 http://nanbyodata.jp/ontology/NANDO_1200125 parent H02130 NANDO:1200125 H02130 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス III 型 Mucolipidosis III https://identifiers.org/kegg.disease:H02130 H02130 NANDO:1200125 H02130 http://www.geneontology.org/formats/oboInOwl#hasDbXref 偽 Hurler ポリジストロフィー Mucolipidosis III https://identifiers.org/kegg.disease:H02130 H02130 NANDO:1200125 H02130 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス III 型 Pseudo-Hurler polydystrophy https://identifiers.org/kegg.disease:H02130 H02130 NANDO:1200125 H02130 http://www.geneontology.org/formats/oboInOwl#hasDbXref 偽 Hurler ポリジストロフィー Pseudo-Hurler polydystrophy https://identifiers.org/kegg.disease:H02130 NANDO:1200154 http://nanbyodata.jp/ontology/NANDO_1200154 parent H02275 NANDO:1200154 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref 若年型神経セロイドリポフスチン症 Batten disease https://identifiers.org/kegg.disease:H02275 H02275 NANDO:1200154 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref Spielmeyer-Vogt 病 Batten disease https://identifiers.org/kegg.disease:H02275 H02275 NANDO:1200154 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref バッテン病 Batten disease https://identifiers.org/kegg.disease:H02275 H02275 NANDO:1200154 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref 若年型神経セロイドリポフスチン症 Juvenile neuronal ceroid lipofuscinoses https://identifiers.org/kegg.disease:H02275 H02275 NANDO:1200154 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref Spielmeyer-Vogt 病 Juvenile neuronal ceroid lipofuscinoses https://identifiers.org/kegg.disease:H02275 H02275 NANDO:1200154 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref バッテン病 Juvenile neuronal ceroid lipofuscinoses https://identifiers.org/kegg.disease:H02275 H02275 NANDO:1200154 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref 若年型神経セロイドリポフスチン症 Spielmeyer-Vogt disease https://identifiers.org/kegg.disease:H02275 H02275 NANDO:1200154 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref Spielmeyer-Vogt 病 Spielmeyer-Vogt disease https://identifiers.org/kegg.disease:H02275 H02275 NANDO:1200154 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref バッテン病 Spielmeyer-Vogt disease https://identifiers.org/kegg.disease:H02275 NANDO:1200155 http://nanbyodata.jp/ontology/NANDO_1200155 parent H02276 NANDO:1200155 H02276 http://www.geneontology.org/formats/oboInOwl#hasDbXref 成人型神経セロイドリポフスチン症 Kufs disease https://identifiers.org/kegg.disease:H02276 H02276 NANDO:1200155 H02276 http://www.geneontology.org/formats/oboInOwl#hasDbXref Kufs 病 Kufs disease https://identifiers.org/kegg.disease:H02276 H02276 NANDO:1200155 H02276 http://www.geneontology.org/formats/oboInOwl#hasDbXref 成人型神経セロイドリポフスチン症 Adult-onset neuronal ceroid lipofuscinosis https://identifiers.org/kegg.disease:H02276 H02276 NANDO:1200155 H02276 http://www.geneontology.org/formats/oboInOwl#hasDbXref Kufs 病 Adult-onset neuronal ceroid lipofuscinosis https://identifiers.org/kegg.disease:H02276 NANDO:1200152 http://nanbyodata.jp/ontology/NANDO_1200152 parent H02277 NANDO:1200152 H02277 http://www.geneontology.org/formats/oboInOwl#hasDbXref 乳児型神経セロイドリポフスチン症 Infantile neuronal ceroid lipofuscinosis https://identifiers.org/kegg.disease:H02277 H02277 NANDO:1200152 H02277 http://www.geneontology.org/formats/oboInOwl#hasDbXref Santavuori-Haltia 病 Infantile neuronal ceroid lipofuscinosis https://identifiers.org/kegg.disease:H02277 H02277 NANDO:1200152 H02277 http://www.geneontology.org/formats/oboInOwl#hasDbXref 乳児型神経セロイドリポフスチン症 Santavuori-Haltia disease https://identifiers.org/kegg.disease:H02277 H02277 NANDO:1200152 H02277 http://www.geneontology.org/formats/oboInOwl#hasDbXref Santavuori-Haltia 病 Santavuori-Haltia disease https://identifiers.org/kegg.disease:H02277 NANDO:1200186 http://nanbyodata.jp/ontology/NANDO_1200186 parent H00061 NANDO:1200186 H00061 http://www.geneontology.org/formats/oboInOwl#hasDbXref プリオン病 Prion disease https://identifiers.org/kegg.disease:H00061 H00061 NANDO:1200186 H00061 http://www.geneontology.org/formats/oboInOwl#hasDbXref プリオン病 Creutzfeldt-Jacob disease (CJD) https://identifiers.org/kegg.disease:H00061 H00061 NANDO:1200186 H00061 http://www.geneontology.org/formats/oboInOwl#hasDbXref プリオン病 Fatal familial insomnia (FFI) https://identifiers.org/kegg.disease:H00061 H00061 NANDO:1200186 H00061 http://www.geneontology.org/formats/oboInOwl#hasDbXref プリオン病 Gerstmann-Straussler disease (GSD) https://identifiers.org/kegg.disease:H00061 H00061 NANDO:1200186 H00061 http://www.geneontology.org/formats/oboInOwl#hasDbXref プリオン病 Gerstmann-Straussler-Scheinker disease (GSSD) https://identifiers.org/kegg.disease:H00061 NANDO:1200272 http://nanbyodata.jp/ontology/NANDO_1200272 parent H00080 NANDO:1200272 H00080 http://www.geneontology.org/formats/oboInOwl#hasDbXref 全身性エリテマトーデス Systemic lupus erythematosus https://identifiers.org/kegg.disease:H00080 NANDO:1200222 http://nanbyodata.jp/ontology/NANDO_1200222 parent H00150 NANDO:1200222 H00150 http://www.geneontology.org/formats/oboInOwl#hasDbXref ダノン病 Danon disease https://identifiers.org/kegg.disease:H00150 H00150 NANDO:1200222 H00150 http://www.geneontology.org/formats/oboInOwl#hasDbXref ダノン病 X-linked vacuolar cardiomyopathy and myopathy https://identifiers.org/kegg.disease:H00150 NANDO:1200205 http://nanbyodata.jp/ontology/NANDO_1200205 parent H00370 NANDO:1200205 H00370 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性多巣性白質脳症 Progressive multifocal leukoencephalopathy https://identifiers.org/kegg.disease:H00370 NANDO:1200180 http://nanbyodata.jp/ontology/NANDO_1200180 parent H00473 NANDO:1200180 H00473 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミトコンドリア複合体 I 欠損症 Mitochondrial complex I deficiency https://identifiers.org/kegg.disease:H00473 NANDO:1200235 http://nanbyodata.jp/ontology/NANDO_1200235 parent H00584 NANDO:1200235 H00584 http://www.geneontology.org/formats/oboInOwl#hasDbXref 単純型表皮水疱症 Epidermolysis bullosa simplex https://identifiers.org/kegg.disease:H00584 NANDO:1200236 http://nanbyodata.jp/ontology/NANDO_1200236 parent H00586 NANDO:1200236 H00586 http://www.geneontology.org/formats/oboInOwl#hasDbXref 接合部型表皮水疱症 Epidermolysis bullosa, junctional https://identifiers.org/kegg.disease:H00586 NANDO:1200239 http://nanbyodata.jp/ontology/NANDO_1200239 parent H00588 NANDO:1200239 H00588 http://www.geneontology.org/formats/oboInOwl#hasDbXref キンドラー症候群 Kindler syndrome https://identifiers.org/kegg.disease:H00588 NANDO:1200216 http://nanbyodata.jp/ontology/NANDO_1200216 parent H00594 NANDO:1200216 H00594 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遠位型ミオパチー Distal myopathy https://identifiers.org/kegg.disease:H00594 NANDO:1200220 http://nanbyodata.jp/ontology/NANDO_1200220 parent H01340 NANDO:1200220 H01340 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベスレムミオパチー Bethlem myopathy https://identifiers.org/kegg.disease:H01340 NANDO:1200176 http://nanbyodata.jp/ontology/NANDO_1200176 parent H01347 NANDO:1200176 H01347 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 MELAS syndrome https://identifiers.org/kegg.disease:H01347 H01347 NANDO:1200176 H01347 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes https://identifiers.org/kegg.disease:H01347 NANDO:1200177 http://nanbyodata.jp/ontology/NANDO_1200177 parent H01356 NANDO:1200177 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 赤色ぼろ線維・ミオクローヌスてんかん症候群 Fukuhara syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:1200177 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref MERRF 症候群 Fukuhara syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:1200177 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 福原病 Fukuhara syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:1200177 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 赤色ぼろ線維・ミオクローヌスてんかん症候群 MERRF syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:1200177 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref MERRF 症候群 MERRF syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:1200177 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 福原病 MERRF syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:1200177 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 赤色ぼろ線維・ミオクローヌスてんかん症候群 Myoclonic Epilepsy and Ragged-Red Fiber Disease https://identifiers.org/kegg.disease:H01356 H01356 NANDO:1200177 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref MERRF 症候群 Myoclonic Epilepsy and Ragged-Red Fiber Disease https://identifiers.org/kegg.disease:H01356 H01356 NANDO:1200177 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 福原病 Myoclonic Epilepsy and Ragged-Red Fiber Disease https://identifiers.org/kegg.disease:H01356 NANDO:1200261 http://nanbyodata.jp/ontology/NANDO_1200261 parent H01382 NANDO:1200261 H01382 http://www.geneontology.org/formats/oboInOwl#hasDbXref 結節性多発動脈炎 ADA2 deficiency https://identifiers.org/kegg.disease:H01382 H01382 NANDO:1200261 H01382 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血管炎・自己炎症・免疫不全・血液学的異常症候群 ADA2 deficiency https://identifiers.org/kegg.disease:H01382 H01382 NANDO:1200261 H01382 http://www.geneontology.org/formats/oboInOwl#hasDbXref ADA2 欠損症 ADA2 deficiency https://identifiers.org/kegg.disease:H01382 H01382 NANDO:1200261 H01382 http://www.geneontology.org/formats/oboInOwl#hasDbXref 結節性多発動脈炎 Polyarteritis nodosa https://identifiers.org/kegg.disease:H01382 H01382 NANDO:1200261 H01382 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血管炎・自己炎症・免疫不全・血液学的異常症候群 Polyarteritis nodosa https://identifiers.org/kegg.disease:H01382 H01382 NANDO:1200261 H01382 http://www.geneontology.org/formats/oboInOwl#hasDbXref ADA2 欠損症 Polyarteritis nodosa https://identifiers.org/kegg.disease:H01382 H01382 NANDO:1200261 H01382 http://www.geneontology.org/formats/oboInOwl#hasDbXref 結節性多発動脈炎 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome https://identifiers.org/kegg.disease:H01382 H01382 NANDO:1200261 H01382 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血管炎・自己炎症・免疫不全・血液学的異常症候群 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome https://identifiers.org/kegg.disease:H01382 H01382 NANDO:1200261 H01382 http://www.geneontology.org/formats/oboInOwl#hasDbXref ADA2 欠損症 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome https://identifiers.org/kegg.disease:H01382 NANDO:1200183 http://nanbyodata.jp/ontology/NANDO_1200183 parent H01396 NANDO:1200183 H01396 http://www.geneontology.org/formats/oboInOwl#hasDbXref もやもや病 Moyamoya disease https://identifiers.org/kegg.disease:H01396 NANDO:1200173 http://nanbyodata.jp/ontology/NANDO_1200173 parent H01427 NANDO:1200173 H01427 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミトコンドリア病 Mitochondrial disease https://identifiers.org/kegg.disease:H01427 NANDO:1200226 http://nanbyodata.jp/ontology/NANDO_1200226 parent H01437 NANDO:1200226 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref レックリングハウゼン病 Neurofibromatosis type 1 https://identifiers.org/kegg.disease:H01437 H01437 NANDO:1200226 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経線維腫症 I 型 Neurofibromatosis type 1 https://identifiers.org/kegg.disease:H01437 H01437 NANDO:1200226 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref レックリングハウゼン病 Von Recklinghausen disease https://identifiers.org/kegg.disease:H01437 H01437 NANDO:1200226 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経線維腫症 I 型 Von Recklinghausen disease https://identifiers.org/kegg.disease:H01437 NANDO:1200227 http://nanbyodata.jp/ontology/NANDO_1200227 parent H01438 NANDO:1200227 H01438 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経線維腫症 II 型 Neurofibromatosis type 2 https://identifiers.org/kegg.disease:H01438 NANDO:1200264 http://nanbyodata.jp/ontology/NANDO_1200264 parent H01468 NANDO:1200264 H01468 http://www.geneontology.org/formats/oboInOwl#hasDbXref 好酸球性多発血管炎性肉芽腫症 Eosinophilic granulomatosis with polyangiitis https://identifiers.org/kegg.disease:H01468 H01468 NANDO:1200264 H01468 http://www.geneontology.org/formats/oboInOwl#hasDbXref チャーグストラウス症候群 Eosinophilic granulomatosis with polyangiitis https://identifiers.org/kegg.disease:H01468 H01468 NANDO:1200264 H01468 http://www.geneontology.org/formats/oboInOwl#hasDbXref 好酸球性多発血管炎性肉芽腫症 Churg-Strauss syndrome https://identifiers.org/kegg.disease:H01468 H01468 NANDO:1200264 H01468 http://www.geneontology.org/formats/oboInOwl#hasDbXref チャーグストラウス症候群 Churg-Strauss syndrome https://identifiers.org/kegg.disease:H01468 NANDO:1200277 http://nanbyodata.jp/ontology/NANDO_1200277 parent H01492 NANDO:1200277 H01492 http://www.geneontology.org/formats/oboInOwl#hasDbXref 全身性強皮症 Systemic scleroderma https://identifiers.org/kegg.disease:H01492 H01492 NANDO:1200277 H01492 http://www.geneontology.org/formats/oboInOwl#hasDbXref 全身性強皮症 Systemic sclerosis https://identifiers.org/kegg.disease:H01492 NANDO:1200279 http://nanbyodata.jp/ontology/NANDO_1200279 parent H01502 NANDO:1200279 H01502 http://www.geneontology.org/formats/oboInOwl#hasDbXref シェーグレン症候群 Sjogren syndrome https://identifiers.org/kegg.disease:H01502 NANDO:1200208 http://nanbyodata.jp/ontology/NANDO_1200208 parent H01574 NANDO:1200208 H01574 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性特発性基底核石灰化症 Familial idiopathic basal ganglia calcification https://identifiers.org/kegg.disease:H01574 H01574 NANDO:1200208 H01574 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファール病 Familial idiopathic basal ganglia calcification https://identifiers.org/kegg.disease:H01574 H01574 NANDO:1200208 H01574 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性特発性基底核石灰化症 Bilateral striopallidodentate calcinosis (BSPDC) https://identifiers.org/kegg.disease:H01574 H01574 NANDO:1200208 H01574 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファール病 Bilateral striopallidodentate calcinosis (BSPDC) https://identifiers.org/kegg.disease:H01574 H01574 NANDO:1200208 H01574 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性特発性基底核石灰化症 Fahr disease https://identifiers.org/kegg.disease:H01574 H01574 NANDO:1200208 H01574 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファール病 Fahr disease https://identifiers.org/kegg.disease:H01574 NANDO:1200273 http://nanbyodata.jp/ontology/NANDO_1200273 parent H01604 NANDO:1200273 H01604 http://www.geneontology.org/formats/oboInOwl#hasDbXref 皮膚筋炎/多発性筋炎 Polymyositis and dermatomyositis https://identifiers.org/kegg.disease:H01604 NANDO:1200266 http://nanbyodata.jp/ontology/NANDO_1200266 parent H01625 NANDO:1200266 H01625 http://www.geneontology.org/formats/oboInOwl#hasDbXref バージャー病 Thromboangiitis obliterans https://identifiers.org/kegg.disease:H01625 H01625 NANDO:1200266 H01625 http://www.geneontology.org/formats/oboInOwl#hasDbXref ビュルガー病 Thromboangiitis obliterans https://identifiers.org/kegg.disease:H01625 H01625 NANDO:1200266 H01625 http://www.geneontology.org/formats/oboInOwl#hasDbXref 閉塞性血栓血管炎 Thromboangiitis obliterans https://identifiers.org/kegg.disease:H01625 H01625 NANDO:1200266 H01625 http://www.geneontology.org/formats/oboInOwl#hasDbXref バージャー病 Buerger disease https://identifiers.org/kegg.disease:H01625 H01625 NANDO:1200266 H01625 http://www.geneontology.org/formats/oboInOwl#hasDbXref ビュルガー病 Buerger disease https://identifiers.org/kegg.disease:H01625 H01625 NANDO:1200266 H01625 http://www.geneontology.org/formats/oboInOwl#hasDbXref 閉塞性血栓血管炎 Buerger disease https://identifiers.org/kegg.disease:H01625 NANDO:1200228 http://nanbyodata.jp/ontology/NANDO_1200228 parent H01648 NANDO:1200228 H01648 http://www.geneontology.org/formats/oboInOwl#hasDbXref 天疱瘡 Pemphigus https://identifiers.org/kegg.disease:H01648 NANDO:1200263 http://nanbyodata.jp/ontology/NANDO_1200263 parent H01655 NANDO:1200263 H01655 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウェゲナー肉芽腫症 Granulomatosis with polyangiitis https://identifiers.org/kegg.disease:H01655 H01655 NANDO:1200263 H01655 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis https://identifiers.org/kegg.disease:H01655 H01655 NANDO:1200263 H01655 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウェゲナー肉芽腫症 Wegener granulomatosis https://identifiers.org/kegg.disease:H01655 H01655 NANDO:1200263 H01655 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発血管炎性肉芽腫症 Wegener granulomatosis https://identifiers.org/kegg.disease:H01655 NANDO:1200262 http://nanbyodata.jp/ontology/NANDO_1200262 parent H01658 NANDO:1200262 H01658 http://www.geneontology.org/formats/oboInOwl#hasDbXref 顕微鏡的多発血管炎 Microscopic polyangiitis https://identifiers.org/kegg.disease:H01658 NANDO:1200240 http://nanbyodata.jp/ontology/NANDO_1200240 parent H01663 NANDO:1200240 H01663 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膿疱性乾癬 Pustular psoriasis https://identifiers.org/kegg.disease:H01663 NANDO:1200245 http://nanbyodata.jp/ontology/NANDO_1200245 parent H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200245 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Lyell syndrome https://identifiers.org/kegg.disease:H01694 NANDO:1200246 http://nanbyodata.jp/ontology/NANDO_1200246 parent H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:1200246 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Lyell syndrome https://identifiers.org/kegg.disease:H01694 NANDO:1200195 http://nanbyodata.jp/ontology/NANDO_1200195 parent H01696 NANDO:1200195 H01696 http://www.geneontology.org/formats/oboInOwl#hasDbXref 亜急性硬化性全脳炎 Subacute sclerosing panencephalitis https://identifiers.org/kegg.disease:H01696 NANDO:1200258 http://nanbyodata.jp/ontology/NANDO_1200258 parent H01698 NANDO:1200258 H01698 http://www.geneontology.org/formats/oboInOwl#hasDbXref 側頭動脈炎 Giant cell arteritis https://identifiers.org/kegg.disease:H01698 H01698 NANDO:1200258 H01698 http://www.geneontology.org/formats/oboInOwl#hasDbXref 巨細胞性動脈炎 Giant cell arteritis https://identifiers.org/kegg.disease:H01698 H01698 NANDO:1200258 H01698 http://www.geneontology.org/formats/oboInOwl#hasDbXref 側頭動脈炎 Temporal arteritis https://identifiers.org/kegg.disease:H01698 H01698 NANDO:1200258 H01698 http://www.geneontology.org/formats/oboInOwl#hasDbXref 巨細胞性動脈炎 Temporal arteritis https://identifiers.org/kegg.disease:H01698 NANDO:1200278 http://nanbyodata.jp/ontology/NANDO_1200278 parent H01710 NANDO:1200278 H01710 http://www.geneontology.org/formats/oboInOwl#hasDbXref 混合性結合組織病 Mixed connective tissue disease https://identifiers.org/kegg.disease:H01710 NANDO:1200234 http://nanbyodata.jp/ontology/NANDO_1200234 parent H01737 NANDO:1200234 H01737 http://www.geneontology.org/formats/oboInOwl#hasDbXref 表皮水疱症 Epidermolysis bullosa https://identifiers.org/kegg.disease:H01737 NANDO:1200283 http://nanbyodata.jp/ontology/NANDO_1200283 parent H01758 NANDO:1200283 H01758 http://www.geneontology.org/formats/oboInOwl#hasDbXref 再発性多発軟骨炎 Relapsing polychondritis https://identifiers.org/kegg.disease:H01758 NANDO:1200224 http://nanbyodata.jp/ontology/NANDO_1200224 parent H01777 NANDO:1200224 H01777 http://www.geneontology.org/formats/oboInOwl#hasDbXref シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome https://identifiers.org/kegg.disease:H01777 NANDO:1200215 http://nanbyodata.jp/ontology/NANDO_1200215 parent H01778 NANDO:1200215 H01778 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウルリッヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy https://identifiers.org/kegg.disease:H01778 H01778 NANDO:1200215 H01778 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウルリッヒ病 Ullrich congenital muscular dystrophy https://identifiers.org/kegg.disease:H01778 H01778 NANDO:1200215 H01778 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウルリッヒ型先天性筋ジストロフィー Ullrich disease https://identifiers.org/kegg.disease:H01778 H01778 NANDO:1200215 H01778 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウルリッヒ病 Ullrich disease https://identifiers.org/kegg.disease:H01778 NANDO:1200221 http://nanbyodata.jp/ontology/NANDO_1200221 parent H01781 NANDO:1200221 H01781 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己貪食空胞性ミオパチー Autophagic vacuolar myopathy https://identifiers.org/kegg.disease:H01781 NANDO:1200217 http://nanbyodata.jp/ontology/NANDO_1200217 parent H01965 NANDO:1200217 H01965 http://www.geneontology.org/formats/oboInOwl#hasDbXref 三好型ミオパチー Miyoshi myopathy https://identifiers.org/kegg.disease:H01965 H01965 NANDO:1200217 H01965 http://www.geneontology.org/formats/oboInOwl#hasDbXref 三好型筋ジストロフィー Miyoshi myopathy https://identifiers.org/kegg.disease:H01965 H01965 NANDO:1200217 H01965 http://www.geneontology.org/formats/oboInOwl#hasDbXref 三好型ミオパチー Miyoshi muscular dystrophy https://identifiers.org/kegg.disease:H01965 H01965 NANDO:1200217 H01965 http://www.geneontology.org/formats/oboInOwl#hasDbXref 三好型筋ジストロフィー Miyoshi muscular dystrophy https://identifiers.org/kegg.disease:H01965 NANDO:1200181 http://nanbyodata.jp/ontology/NANDO_1200181 parent H02005 NANDO:1200181 H02005 http://www.geneontology.org/formats/oboInOwl#hasDbXref コハク酸CoQ還元酵素欠損症 Mitochondrial complex II deficiency https://identifiers.org/kegg.disease:H02005 H02005 NANDO:1200181 H02005 http://www.geneontology.org/formats/oboInOwl#hasDbXref コハク酸脱水素酵素欠損症 Mitochondrial complex II deficiency https://identifiers.org/kegg.disease:H02005 H02005 NANDO:1200181 H02005 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミトコンドリア複合体 II 欠損症 Mitochondrial complex II deficiency https://identifiers.org/kegg.disease:H02005 H02005 NANDO:1200181 H02005 http://www.geneontology.org/formats/oboInOwl#hasDbXref コハク酸CoQ還元酵素欠損症 Succinate CoQ reductase deficiency https://identifiers.org/kegg.disease:H02005 H02005 NANDO:1200181 H02005 http://www.geneontology.org/formats/oboInOwl#hasDbXref コハク酸脱水素酵素欠損症 Succinate CoQ reductase deficiency https://identifiers.org/kegg.disease:H02005 H02005 NANDO:1200181 H02005 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミトコンドリア複合体 II 欠損症 Succinate CoQ reductase deficiency https://identifiers.org/kegg.disease:H02005 H02005 NANDO:1200181 H02005 http://www.geneontology.org/formats/oboInOwl#hasDbXref コハク酸CoQ還元酵素欠損症 Succinate dehydrogenase deficiency https://identifiers.org/kegg.disease:H02005 H02005 NANDO:1200181 H02005 http://www.geneontology.org/formats/oboInOwl#hasDbXref コハク酸脱水素酵素欠損症 Succinate dehydrogenase deficiency https://identifiers.org/kegg.disease:H02005 H02005 NANDO:1200181 H02005 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミトコンドリア複合体 II 欠損症 Succinate dehydrogenase deficiency https://identifiers.org/kegg.disease:H02005 NANDO:1200219 http://nanbyodata.jp/ontology/NANDO_1200219 parent H02513 NANDO:1200219 H02513 http://www.geneontology.org/formats/oboInOwl#hasDbXref 眼咽頭遠位型ミオパチー Oculopharyngodistal myopathy https://identifiers.org/kegg.disease:H02513 NANDO:1200218 http://nanbyodata.jp/ontology/NANDO_1200218 parent H02586 NANDO:1200218 H02586 http://www.geneontology.org/formats/oboInOwl#hasDbXref 縁取り空胞を伴う遠位型ミオパチー Distal myopathy with rimmed vacuoles https://identifiers.org/kegg.disease:H02586 NANDO:1200331 http://nanbyodata.jp/ontology/NANDO_1200331 parent H00064 NANDO:1200331 H00064 http://www.geneontology.org/formats/oboInOwl#hasDbXref 毛細血管拡張性運動失調症 Ataxia telangiectasia https://identifiers.org/kegg.disease:H00064 H00064 NANDO:1200331 H00064 http://www.geneontology.org/formats/oboInOwl#hasDbXref 毛細血管拡張性運動失調症 Louis-Bar syndrome https://identifiers.org/kegg.disease:H00064 H00064 NANDO:1200331 H00064 http://www.geneontology.org/formats/oboInOwl#hasDbXref 毛細血管拡張性運動失調症 Boder-Sedgwick syndrome https://identifiers.org/kegg.disease:H00064 NANDO:1200344 http://nanbyodata.jp/ontology/NANDO_1200344 parent H00088 NANDO:1200344 H00088 http://www.geneontology.org/formats/oboInOwl#hasDbXref 分類不能型免疫不全症 Common variable immunodeficiency https://identifiers.org/kegg.disease:H00088 NANDO:1200357 http://nanbyodata.jp/ontology/NANDO_1200357 parent H00098 NANDO:1200357 H00098 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性肉芽腫症 Chronic granulomatous disease https://identifiers.org/kegg.disease:H00098 NANDO:1200355 http://nanbyodata.jp/ontology/NANDO_1200355 parent H00099 NANDO:1200355 H00099 http://www.geneontology.org/formats/oboInOwl#hasDbXref 白血球粘着不全症 Leukocyte adhesion deficiency https://identifiers.org/kegg.disease:H00099 NANDO:1200352 http://nanbyodata.jp/ontology/NANDO_1200352 parent H00108 NANDO:1200352 H00108 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性リンパ増殖症候群 Autoimmune lymphoproliferative syndromes https://identifiers.org/kegg.disease:H00108 NANDO:1200316 http://nanbyodata.jp/ontology/NANDO_1200316 parent H00225 NANDO:1200316 H00225 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血栓性血小板減少性紫斑病 Thrombotic thrombocytopenic purpura https://identifiers.org/kegg.disease:H00225 H00225 NANDO:1200316 H00225 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血栓性血小板減少性紫斑病 Moschcowitz disease https://identifiers.org/kegg.disease:H00225 H00225 NANDO:1200316 H00225 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血栓性血小板減少性紫斑病 Schulman-Upshaw syndrome https://identifiers.org/kegg.disease:H00225 NANDO:1200375 http://nanbyodata.jp/ontology/NANDO_1200375 parent H00253 NANDO:1200375 H00253 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢性尿崩症 Central diabetes insipidus https://identifiers.org/kegg.disease:H00253 H00253 NANDO:1200375 H00253 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経下垂体性尿崩症 Central diabetes insipidus https://identifiers.org/kegg.disease:H00253 H00253 NANDO:1200375 H00253 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢性尿崩症 Neurohypophyseal diabetes insipidus https://identifiers.org/kegg.disease:H00253 H00253 NANDO:1200375 H00253 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経下垂体性尿崩症 Neurohypophyseal diabetes insipidus https://identifiers.org/kegg.disease:H00253 NANDO:1200388 http://nanbyodata.jp/ontology/NANDO_1200388 parent H00255 NANDO:1200388 H00255 http://www.geneontology.org/formats/oboInOwl#hasDbXref 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism https://identifiers.org/kegg.disease:H00255 NANDO:1200396 http://nanbyodata.jp/ontology/NANDO_1200396 parent H00258 NANDO:1200396 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルドステロン合成酵素欠損症 Aldosterone synthase deficiency https://identifiers.org/kegg.disease:H00258 H00258 NANDO:1200396 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎皮質酵素欠損症 Aldosterone synthase deficiency https://identifiers.org/kegg.disease:H00258 H00258 NANDO:1200396 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルドステロン合成酵素欠損症 Corticosterone methyloxidase type I deficiency https://identifiers.org/kegg.disease:H00258 H00258 NANDO:1200396 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎皮質酵素欠損症 Corticosterone methyloxidase type I deficiency https://identifiers.org/kegg.disease:H00258 H00258 NANDO:1200396 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルドステロン合成酵素欠損症 Corticosterone methyloxidase type II deficiency https://identifiers.org/kegg.disease:H00258 H00258 NANDO:1200396 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎皮質酵素欠損症 Corticosterone methyloxidase type II deficiency https://identifiers.org/kegg.disease:H00258 NANDO:1200286 http://nanbyodata.jp/ontology/NANDO_1200286 parent H00292 NANDO:1200286 H00292 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肥大型心筋症 Hypertrophic cardiomyopathy https://identifiers.org/kegg.disease:H00292 NANDO:1200356 http://nanbyodata.jp/ontology/NANDO_1200356 parent H00439 NANDO:1200356 H00439 http://www.geneontology.org/formats/oboInOwl#hasDbXref シュバッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome https://identifiers.org/kegg.disease:H00439 NANDO:1200304 http://nanbyodata.jp/ontology/NANDO_1200304 parent H00507 NANDO:1200304 H00507 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性角化異常症 Dyskeratosis congenita https://identifiers.org/kegg.disease:H00507 NANDO:1200367 http://nanbyodata.jp/ontology/NANDO_1200367 parent H00542 NANDO:1200367 H00542 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発性嚢胞腎 Polycystic kidney disease https://identifiers.org/kegg.disease:H00542 NANDO:1200338 http://nanbyodata.jp/ontology/NANDO_1200338 parent H00671 NANDO:1200338 H00671 http://www.geneontology.org/formats/oboInOwl#hasDbXref ネザートン症候群 Netherton syndrome https://identifiers.org/kegg.disease:H00671 NANDO:1200336 http://nanbyodata.jp/ontology/NANDO_1200336 parent H00962 NANDO:1200336 H00962 http://www.geneontology.org/formats/oboInOwl#hasDbXref RIDDLE 症候群 RIDDLE syndrome https://identifiers.org/kegg.disease:H00962 NANDO:1200365 http://nanbyodata.jp/ontology/NANDO_1200365 parent H01006 NANDO:1200365 H01006 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性血管性浮腫 Hereditary angioedema https://identifiers.org/kegg.disease:H01006 NANDO:1200311 http://nanbyodata.jp/ontology/NANDO_1200311 parent H01053 NANDO:1200311 H01053 http://www.geneontology.org/formats/oboInOwl#hasDbXref 発作性夜間ヘモグロビン尿症 Paroxysmal nocturnal hemoglobinuria https://identifiers.org/kegg.disease:H01053 NANDO:1200363 http://nanbyodata.jp/ontology/NANDO_1200363 parent H01109 NANDO:1200363 H01109 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis https://identifiers.org/kegg.disease:H01109 H01109 NANDO:1200363 H01109 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性皮膚粘膜カンジダ症 Familial candidiasis (CANDF) https://identifiers.org/kegg.disease:H01109 NANDO:1200322 http://nanbyodata.jp/ontology/NANDO_1200322 parent H01128 NANDO:1200322 H01128 http://www.geneontology.org/formats/oboInOwl#hasDbXref 細網異形成症 Reticular dysgenesis https://identifiers.org/kegg.disease:H01128 NANDO:1200295 http://nanbyodata.jp/ontology/NANDO_1200295 parent H01132 NANDO:1200295 H01132 http://www.geneontology.org/formats/oboInOwl#hasDbXref 再生不良性貧血 Aplastic anemia https://identifiers.org/kegg.disease:H01132 NANDO:1200292 http://nanbyodata.jp/ontology/NANDO_1200292 parent H01219 NANDO:1200292 H01219 http://www.geneontology.org/formats/oboInOwl#hasDbXref 拘束性心筋症 Restrictive cardiomyopathy https://identifiers.org/kegg.disease:H01219 NANDO:1200417 http://nanbyodata.jp/ontology/NANDO_1200417 parent H01299 NANDO:1200417 H01299 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性肺線維症 Idiopathic pulmonary fibrosis https://identifiers.org/kegg.disease:H01299 NANDO:1200332 http://nanbyodata.jp/ontology/NANDO_1200332 parent H01344 NANDO:1200332 H01344 http://www.geneontology.org/formats/oboInOwl#hasDbXref ナイミーヘン染色体不安定症候群 Nijmegen breakage syndrome https://identifiers.org/kegg.disease:H01344 NANDO:1200333 http://nanbyodata.jp/ontology/NANDO_1200333 parent H01346 NANDO:1200333 H01346 http://www.geneontology.org/formats/oboInOwl#hasDbXref ブルーム症候群 Bloom syndrome https://identifiers.org/kegg.disease:H01346 H01346 NANDO:1200333 H01346 http://www.geneontology.org/formats/oboInOwl#hasDbXref MGRISCE1 Bloom syndrome https://identifiers.org/kegg.disease:H01346 H01346 NANDO:1200333 H01346 http://www.geneontology.org/formats/oboInOwl#hasDbXref ブルーム症候群 MGRISCE1 https://identifiers.org/kegg.disease:H01346 H01346 NANDO:1200333 H01346 http://www.geneontology.org/formats/oboInOwl#hasDbXref MGRISCE1 MGRISCE1 https://identifiers.org/kegg.disease:H01346 NANDO:1200284 http://nanbyodata.jp/ontology/NANDO_1200284 parent H01476 NANDO:1200284 H01476 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベーチェット病 Behcet disease https://identifiers.org/kegg.disease:H01476 H01476 NANDO:1200284 H01476 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベーチェット病 Behcet syndrome https://identifiers.org/kegg.disease:H01476 NANDO:1200330 http://nanbyodata.jp/ontology/NANDO_1200330 parent H01523 NANDO:1200330 H01523 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィスコット・アルドリッチ症候群 Wiskott-Aldrich syndrome https://identifiers.org/kegg.disease:H01523 NANDO:1200366 http://nanbyodata.jp/ontology/NANDO_1200366 parent H01581 NANDO:1200366 H01581 http://www.geneontology.org/formats/oboInOwl#hasDbXref IgA 腎症 IgA nephropathy https://identifiers.org/kegg.disease:H01581 H01581 NANDO:1200366 H01581 http://www.geneontology.org/formats/oboInOwl#hasDbXref IgA 腎症 Berger disease https://identifiers.org/kegg.disease:H01581 NANDO:1200305 http://nanbyodata.jp/ontology/NANDO_1200305 parent H01585 NANDO:1200305 H01585 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性溶血性貧血 Autoimmune hemolytic anemia https://identifiers.org/kegg.disease:H01585 NANDO:1200411 http://nanbyodata.jp/ontology/NANDO_1200411 parent H01598 NANDO:1200411 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref アジソン病 Addison disease https://identifiers.org/kegg.disease:H01598 H01598 NANDO:1200411 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副腎機能低下症 Addison disease https://identifiers.org/kegg.disease:H01598 H01598 NANDO:1200411 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性副腎機能不全 Addison disease https://identifiers.org/kegg.disease:H01598 H01598 NANDO:1200411 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref アジソン病 Hypoadrenocorticism https://identifiers.org/kegg.disease:H01598 H01598 NANDO:1200411 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副腎機能低下症 Hypoadrenocorticism https://identifiers.org/kegg.disease:H01598 H01598 NANDO:1200411 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性副腎機能不全 Hypoadrenocorticism https://identifiers.org/kegg.disease:H01598 H01598 NANDO:1200411 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref アジソン病 Primary adrenal insufficiency https://identifiers.org/kegg.disease:H01598 H01598 NANDO:1200411 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副腎機能低下症 Primary adrenal insufficiency https://identifiers.org/kegg.disease:H01598 H01598 NANDO:1200411 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性副腎機能不全 Primary adrenal insufficiency https://identifiers.org/kegg.disease:H01598 NANDO:1200425 http://nanbyodata.jp/ontology/NANDO_1200425 parent H01621 NANDO:1200425 H01621 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺動脈性肺高血圧症 Pulmonary arterial hypertension https://identifiers.org/kegg.disease:H01621 NANDO:1200387 http://nanbyodata.jp/ontology/NANDO_1200387 parent H01700 NANDO:1200387 H01700 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体前葉機能低下症 Hypopituitarism https://identifiers.org/kegg.disease:H01700 NANDO:1200416 http://nanbyodata.jp/ontology/NANDO_1200416 parent H01716 NANDO:1200416 H01716 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性間質性肺炎 Idiopathic interstitial pneumonias https://identifiers.org/kegg.disease:H01716 NANDO:1200403 http://nanbyodata.jp/ontology/NANDO_1200403 parent H01772 NANDO:1200403 H01772 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎低形成症 Adrenal hypoplasia, congenital https://identifiers.org/kegg.disease:H01772 H01772 NANDO:1200403 H01772 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖性アジソン病 Adrenal hypoplasia, congenital https://identifiers.org/kegg.disease:H01772 H01772 NANDO:1200403 H01772 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎低形成症 X-linked addison disease https://identifiers.org/kegg.disease:H01772 H01772 NANDO:1200403 H01772 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖性アジソン病 X-linked addison disease https://identifiers.org/kegg.disease:H01772 NANDO:1200386 http://nanbyodata.jp/ontology/NANDO_1200386 parent H01864 NANDO:1200386 H01864 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性成長ホルモン分泌亢進症 Excessive secretion of growth hormone https://identifiers.org/kegg.disease:H01864 NANDO:1200340 http://nanbyodata.jp/ontology/NANDO_1200340 parent H01968 NANDO:1200340 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Buckley 症候群 Hyper-IgE syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:1200340 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Job 症候群 Hyper-IgE syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:1200340 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高 IgE 症候群 Hyper-IgE syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:1200340 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Buckley 症候群 Buckley syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:1200340 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Job 症候群 Buckley syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:1200340 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高 IgE 症候群 Buckley syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:1200340 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Buckley 症候群 Job syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:1200340 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Job 症候群 Job syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:1200340 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高 IgE 症候群 Job syndrome https://identifiers.org/kegg.disease:H01968 NANDO:1200351 http://nanbyodata.jp/ontology/NANDO_1200351 parent H01969 NANDO:1200351 H01969 http://www.geneontology.org/formats/oboInOwl#hasDbXref Duncan 病 X-linked lymphoproliferative syndrome https://identifiers.org/kegg.disease:H01969 H01969 NANDO:1200351 H01969 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖性リンパ球増殖症候群 X-linked lymphoproliferative syndrome https://identifiers.org/kegg.disease:H01969 H01969 NANDO:1200351 H01969 http://www.geneontology.org/formats/oboInOwl#hasDbXref Duncan 病 Duncan disease https://identifiers.org/kegg.disease:H01969 H01969 NANDO:1200351 H01969 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖性リンパ球増殖症候群 Duncan disease https://identifiers.org/kegg.disease:H01969 NANDO:1200381 http://nanbyodata.jp/ontology/NANDO_1200381 parent H02018 NANDO:1200381 H02018 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢性思春期早発症 Central precocious puberty https://identifiers.org/kegg.disease:H02018 NANDO:1200350 http://nanbyodata.jp/ontology/NANDO_1200350 parent H02021 NANDO:1200350 H02021 http://www.geneontology.org/formats/oboInOwl#hasDbXref チェディアック・東症候群 Chediak-Higashi syndrome https://identifiers.org/kegg.disease:H02021 NANDO:1200358 http://nanbyodata.jp/ontology/NANDO_1200358 parent H02025 NANDO:1200358 H02025 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミエロペルオキシダーゼ欠損症 Myeloperoxidase deficiency https://identifiers.org/kegg.disease:H02025 NANDO:1200323 http://nanbyodata.jp/ontology/NANDO_1200323 parent H02309 NANDO:1200323 H02309 http://www.geneontology.org/formats/oboInOwl#hasDbXref アデノシンデアミナーゼ欠損症 Adenosine deaminase deficiency https://identifiers.org/kegg.disease:H02309 NANDO:1200406 http://nanbyodata.jp/ontology/NANDO_1200406 parent H02319 NANDO:1200406 H02319 http://www.geneontology.org/formats/oboInOwl#hasDbXref IMAGE 症候群 IMAGE syndrome https://identifiers.org/kegg.disease:H02319 NANDO:1200324 http://nanbyodata.jp/ontology/NANDO_1200324 parent H02554 NANDO:1200324 H02554 http://www.geneontology.org/formats/oboInOwl#hasDbXref Omenn 症候群 Omenn syndrome https://identifiers.org/kegg.disease:H02554 NANDO:1200315 http://nanbyodata.jp/ontology/NANDO_1200315 parent H01240 NANDO:1200315 H01240 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性血小板減少性紫斑病 Autoimmune thrombocytopenic purpura https://identifiers.org/kegg.disease:H01240 H01240 NANDO:1200315 H01240 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性血小板減少性紫斑病 Immune thrombocytopenia https://identifiers.org/kegg.disease:H01240 NANDO:1200502 http://nanbyodata.jp/ontology/NANDO_1200502 parent H00215 NANDO:1200502 H00215 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性周期性四肢麻痺 Periodic paralysis https://identifiers.org/kegg.disease:H00215 NANDO:1200465 http://nanbyodata.jp/ontology/NANDO_1200465 parent H00282 NANDO:1200465 H00282 http://www.geneontology.org/formats/oboInOwl#hasDbXref クリオピリン関連周期熱症候群 Cryopyrin associated periodic syndrome https://identifiers.org/kegg.disease:H00282 NANDO:1200476 http://nanbyodata.jp/ontology/NANDO_1200476 parent H00285 NANDO:1200476 H00285 http://www.geneontology.org/formats/oboInOwl#hasDbXref ブラウ症候群 Blau syndrome https://identifiers.org/kegg.disease:H00285 NANDO:1200444 http://nanbyodata.jp/ontology/NANDO_1200444 parent H00286 NANDO:1200444 H00286 http://www.geneontology.org/formats/oboInOwl#hasDbXref クローン病 Crohn disease https://identifiers.org/kegg.disease:H00286 NANDO:1200461 http://nanbyodata.jp/ontology/NANDO_1200461 parent H00504 NANDO:1200461 H00504 http://www.geneontology.org/formats/oboInOwl#hasDbXref ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome https://identifiers.org/kegg.disease:H00504 NANDO:1200431 http://nanbyodata.jp/ontology/NANDO_1200431 parent H00527 NANDO:1200431 H00527 http://www.geneontology.org/formats/oboInOwl#hasDbXref 網膜色素変性 Retinitis pigmentosa https://identifiers.org/kegg.disease:H00527 NANDO:1200464 http://nanbyodata.jp/ontology/NANDO_1200464 parent H00556 NANDO:1200464 H00556 http://www.geneontology.org/formats/oboInOwl#hasDbXref チャージ症候群 CHARGE syndrome https://identifiers.org/kegg.disease:H00556 NANDO:1200487 http://nanbyodata.jp/ontology/NANDO_1200487 parent H00562 NANDO:1200487 H00562 http://www.geneontology.org/formats/oboInOwl#hasDbXref ジストロフィン異常症 Dystrophinopathies https://identifiers.org/kegg.disease:H00562 NANDO:1200492 http://nanbyodata.jp/ontology/NANDO_1200492 parent H00563 NANDO:1200492 H00563 http://www.geneontology.org/formats/oboInOwl#hasDbXref エメリー・ドレフュス型筋ジストロフィー Emery-Dreifuss muscular dystrophy https://identifiers.org/kegg.disease:H00563 NANDO:1200491 http://nanbyodata.jp/ontology/NANDO_1200491 parent H00591 NANDO:1200491 H00591 http://www.geneontology.org/formats/oboInOwl#hasDbXref 顔面肩甲上腕型筋ジストロフィー Facioscapulohumeral muscular dystrophy https://identifiers.org/kegg.disease:H00591 NANDO:1200490 http://nanbyodata.jp/ontology/NANDO_1200490 parent H00593 NANDO:1200490 H00593 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肢帯型筋ジストロフィー Limb-girdle muscular dystrophy https://identifiers.org/kegg.disease:H00593 NANDO:1200478 http://nanbyodata.jp/ontology/NANDO_1200478 parent H00698 NANDO:1200478 H00698 http://www.geneontology.org/formats/oboInOwl#hasDbXref ネマリンミオパチー Nemaline myopathy https://identifiers.org/kegg.disease:H00698 NANDO:1200479 http://nanbyodata.jp/ontology/NANDO_1200479 parent H00699 NANDO:1200479 H00699 http://www.geneontology.org/formats/oboInOwl#hasDbXref セントラルコア病 Central core disease https://identifiers.org/kegg.disease:H00699 NANDO:1200482 http://nanbyodata.jp/ontology/NANDO_1200482 parent H00700 NANDO:1200482 H00700 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中心核ミオパチー Centronuclear myopathy https://identifiers.org/kegg.disease:H00700 NANDO:1200497 http://nanbyodata.jp/ontology/NANDO_1200497 parent H00705 NANDO:1200497 H00705 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性ミオトニー Myotonia congenita https://identifiers.org/kegg.disease:H00705 NANDO:1200501 http://nanbyodata.jp/ontology/NANDO_1200501 parent H00743 NANDO:1200501 H00743 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性パラミオトニー Paramyotonia congenita https://identifiers.org/kegg.disease:H00743 NANDO:1200500 http://nanbyodata.jp/ontology/NANDO_1200500 parent H00744 NANDO:1200500 H00744 http://www.geneontology.org/formats/oboInOwl#hasDbXref カリウム惹起性ミオトニー Sodium channel myotonia https://identifiers.org/kegg.disease:H00744 H00744 NANDO:1200500 H00744 http://www.geneontology.org/formats/oboInOwl#hasDbXref ナトリウムチャネルミオトニー Sodium channel myotonia https://identifiers.org/kegg.disease:H00744 H00744 NANDO:1200500 H00744 http://www.geneontology.org/formats/oboInOwl#hasDbXref カリウム惹起性ミオトニー Potassium-aggravated myotonia https://identifiers.org/kegg.disease:H00744 H00744 NANDO:1200500 H00744 http://www.geneontology.org/formats/oboInOwl#hasDbXref ナトリウムチャネルミオトニー Potassium-aggravated myotonia https://identifiers.org/kegg.disease:H00744 NANDO:1200430 http://nanbyodata.jp/ontology/NANDO_1200430 parent H00896 NANDO:1200430 H00896 http://www.geneontology.org/formats/oboInOwl#hasDbXref リンパ脈管筋腫症 Lymphangioleiomyomatosis https://identifiers.org/kegg.disease:H00896 NANDO:1200472 http://nanbyodata.jp/ontology/NANDO_1200472 parent H00912 NANDO:1200472 H00912 http://www.geneontology.org/formats/oboInOwl#hasDbXref TNF受容体関連周期性症候群 Familial periodic fever https://identifiers.org/kegg.disease:H00912 H00912 NANDO:1200472 H00912 http://www.geneontology.org/formats/oboInOwl#hasDbXref TNF受容体関連周期性症候群 Tumor necrosis factor receptor-associated periodic syndrome https://identifiers.org/kegg.disease:H00912 NANDO:1200458 http://nanbyodata.jp/ontology/NANDO_1200458 parent H01276 NANDO:1200458 H01276 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性特発性偽性腸閉塞症 CIIP https://identifiers.org/kegg.disease:H01276 H01276 NANDO:1200458 H01276 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性特発性偽性腸閉塞症 Chronic idiopathic intestinal pseudo-obstruction https://identifiers.org/kegg.disease:H01276 NANDO:1200485 http://nanbyodata.jp/ontology/NANDO_1200485 parent H01284 NANDO:1200485 H01284 http://www.geneontology.org/formats/oboInOwl#hasDbXref マリネスコ・シェーグレン症候群 Marinesco-Sjogren syndrome https://identifiers.org/kegg.disease:H01284 NANDO:1200456 http://nanbyodata.jp/ontology/NANDO_1200456 parent H01361 NANDO:1200456 H01361 http://www.geneontology.org/formats/oboInOwl#hasDbXref 好酸球性食道炎 Eosinophilic esophagitis https://identifiers.org/kegg.disease:H01361 NANDO:1200437 http://nanbyodata.jp/ontology/NANDO_1200437 parent H01433 NANDO:1200437 H01433 http://www.geneontology.org/formats/oboInOwl#hasDbXref バット・キアリ症候群 Budd-Chiari syndrome https://identifiers.org/kegg.disease:H01433 NANDO:1200473 http://nanbyodata.jp/ontology/NANDO_1200473 parent H01434 NANDO:1200473 H01434 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非典型溶血性尿毒症症候群 Atypical hemolytic uremic syndrome https://identifiers.org/kegg.disease:H01434 NANDO:1200449 http://nanbyodata.jp/ontology/NANDO_1200449 parent H01466 NANDO:1200449 H01466 http://www.geneontology.org/formats/oboInOwl#hasDbXref 潰瘍性大腸炎 Ulcerative colitis https://identifiers.org/kegg.disease:H01466 NANDO:1200439 http://nanbyodata.jp/ontology/NANDO_1200439 parent H01467 NANDO:1200439 H01467 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性胆汁性胆管炎 Primary biliary cholangitis https://identifiers.org/kegg.disease:H01467 H01467 NANDO:1200439 H01467 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性胆汁性肝硬変 Primary biliary cholangitis https://identifiers.org/kegg.disease:H01467 H01467 NANDO:1200439 H01467 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性胆汁性胆管炎 Primary biliary cirrhosis https://identifiers.org/kegg.disease:H01467 H01467 NANDO:1200439 H01467 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性胆汁性肝硬変 Primary biliary cirrhosis https://identifiers.org/kegg.disease:H01467 NANDO:1200429 http://nanbyodata.jp/ontology/NANDO_1200429 parent H01622 NANDO:1200429 H01622 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性血栓塞栓性肺高血圧症 Chronic thromboembolic pulmonary hypertension https://identifiers.org/kegg.disease:H01622 NANDO:1200469 http://nanbyodata.jp/ontology/NANDO_1200469 parent H01672 NANDO:1200469 H01672 http://www.geneontology.org/formats/oboInOwl#hasDbXref 若年性特発性関節炎 Juvenile idiopathic arthritis https://identifiers.org/kegg.disease:H01672 NANDO:1200440 http://nanbyodata.jp/ontology/NANDO_1200440 parent H01684 NANDO:1200440 H01684 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性硬化性胆管炎 Primary sclerosing cholangitis https://identifiers.org/kegg.disease:H01684 NANDO:1200441 http://nanbyodata.jp/ontology/NANDO_1200441 parent H01685 NANDO:1200441 H01685 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性肝炎 Autoimmune hepatitis https://identifiers.org/kegg.disease:H01685 NANDO:1200438 http://nanbyodata.jp/ontology/NANDO_1200438 parent H01686 NANDO:1200438 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref バンチ症候群 Banti syndrome https://identifiers.org/kegg.disease:H01686 H01686 NANDO:1200438 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性門脈圧亢進症 Banti syndrome https://identifiers.org/kegg.disease:H01686 H01686 NANDO:1200438 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非硬変症性門脈線維症 Banti syndrome https://identifiers.org/kegg.disease:H01686 H01686 NANDO:1200438 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref バンチ症候群 Idiopathic portal hypertension https://identifiers.org/kegg.disease:H01686 H01686 NANDO:1200438 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性門脈圧亢進症 Idiopathic portal hypertension https://identifiers.org/kegg.disease:H01686 H01686 NANDO:1200438 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非硬変症性門脈線維症 Idiopathic portal hypertension https://identifiers.org/kegg.disease:H01686 H01686 NANDO:1200438 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref バンチ症候群 Non-cirrhotic portal fibrosis https://identifiers.org/kegg.disease:H01686 H01686 NANDO:1200438 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性門脈圧亢進症 Non-cirrhotic portal fibrosis https://identifiers.org/kegg.disease:H01686 H01686 NANDO:1200438 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非硬変症性門脈線維症 Non-cirrhotic portal fibrosis https://identifiers.org/kegg.disease:H01686 NANDO:1200463 http://nanbyodata.jp/ontology/NANDO_1200463 parent H01747 NANDO:1200463 H01747 http://www.geneontology.org/formats/oboInOwl#hasDbXref コステロ症候群 Costello syndrome https://identifiers.org/kegg.disease:H01747 NANDO:1200496 http://nanbyodata.jp/ontology/NANDO_1200496 parent H01780 NANDO:1200496 H01780 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非ジストロフィー性ミオトニー症候群 Non-dystrophic myotonia https://identifiers.org/kegg.disease:H01780 NANDO:1200454 http://nanbyodata.jp/ontology/NANDO_1200454 parent H01782 NANDO:1200454 H01782 http://www.geneontology.org/formats/oboInOwl#hasDbXref 好酸球性消化管疾患 Eosinophilic gastrointestinal disorder https://identifiers.org/kegg.disease:H01782 NANDO:1200477 http://nanbyodata.jp/ontology/NANDO_1200477 parent H01810 NANDO:1200477 H01810 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性ミオパチー Congenital myopathy https://identifiers.org/kegg.disease:H01810 NANDO:1200426 http://nanbyodata.jp/ontology/NANDO_1200426 parent H01866 NANDO:1200426 H01866 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺静脈閉塞症／肺毛細血管腫症 Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis https://identifiers.org/kegg.disease:H01866 NANDO:1200459 http://nanbyodata.jp/ontology/NANDO_1200459 parent H01869 NANDO:1200459 H01869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 巨大膀胱短小結腸腸管蠕動不全症 Megacystis microcolon intestinal hypoperistalsis syndrome https://identifiers.org/kegg.disease:H01869 NANDO:1200460 http://nanbyodata.jp/ontology/NANDO_1200460 parent H01871 NANDO:1200460 H01871 http://www.geneontology.org/formats/oboInOwl#hasDbXref 腸管神経節細胞僅少症 Isolated hypoganglionosis https://identifiers.org/kegg.disease:H01871 NANDO:1200494 http://nanbyodata.jp/ontology/NANDO_1200494 parent H01957 NANDO:1200494 H01957 http://www.geneontology.org/formats/oboInOwl#hasDbXref 福山型先天性筋ジストロフィー Fukuyama congenital muscular dystrophy https://identifiers.org/kegg.disease:H01957 NANDO:1200488 http://nanbyodata.jp/ontology/NANDO_1200488 parent H01963 NANDO:1200488 H01963 http://www.geneontology.org/formats/oboInOwl#hasDbXref デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy https://identifiers.org/kegg.disease:H01963 NANDO:1200489 http://nanbyodata.jp/ontology/NANDO_1200489 parent H01964 NANDO:1200489 H01964 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベッカー型筋ジストロフィー Becker muscular dystrophy https://identifiers.org/kegg.disease:H01964 NANDO:1200467 http://nanbyodata.jp/ontology/NANDO_1200467 parent H02555 NANDO:1200467 H02555 http://www.geneontology.org/formats/oboInOwl#hasDbXref マックル-ウェルズ症候群 Muckle-Wells syndrome https://identifiers.org/kegg.disease:H02555 NANDO:1200483 http://nanbyodata.jp/ontology/NANDO_1200483 parent H00701 NANDO:1200483 H00701 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性筋線維タイプ不均等症 Congenital fiber type disproportion https://identifiers.org/kegg.disease:H00701 NANDO:1200554 http://nanbyodata.jp/ontology/NANDO_1200554 parent H00065 NANDO:1200554 H00065 http://www.geneontology.org/formats/oboInOwl#hasDbXref アレキサンダー病 Alexander disease https://identifiers.org/kegg.disease:H00065 NANDO:1200548 http://nanbyodata.jp/ontology/NANDO_1200548 parent H00078 NANDO:1200548 H00078 http://www.geneontology.org/formats/oboInOwl#hasDbXref 前頭側頭葉変性症 Frontotemporal lobar degeneration https://identifiers.org/kegg.disease:H00078 NANDO:1200603 http://nanbyodata.jp/ontology/NANDO_1200603 parent H00440 NANDO:1200603 H00440 http://www.geneontology.org/formats/oboInOwl#hasDbXref レット症候群 Rett syndrome https://identifiers.org/kegg.disease:H00440 NANDO:1200593 http://nanbyodata.jp/ontology/NANDO_1200593 parent H00606 NANDO:1200593 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 大田原症候群 Ohtahara syndrome https://identifiers.org/kegg.disease:H00606 H00606 NANDO:1200593 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 早期乳児てんかん性脳症 Ohtahara syndrome https://identifiers.org/kegg.disease:H00606 H00606 NANDO:1200593 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 発達性およびてんかん性脳症 Ohtahara syndrome https://identifiers.org/kegg.disease:H00606 H00606 NANDO:1200593 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 大田原症候群 Developmental and epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 H00606 NANDO:1200593 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 早期乳児てんかん性脳症 Developmental and epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 H00606 NANDO:1200593 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 発達性およびてんかん性脳症 Developmental and epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 H00606 NANDO:1200593 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 大田原症候群 Early infantile epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 H00606 NANDO:1200593 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 早期乳児てんかん性脳症 Early infantile epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 H00606 NANDO:1200593 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 発達性およびてんかん性脳症 Early infantile epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 NANDO:1200580 http://nanbyodata.jp/ontology/NANDO_1200580 parent H00650 NANDO:1200580 H00650 http://www.geneontology.org/formats/oboInOwl#hasDbXref Allan-Herndon-Dudley 症候群 Allan-Herndon-Dudley syndrome https://identifiers.org/kegg.disease:H00650 H00650 NANDO:1200580 H00650 http://www.geneontology.org/formats/oboInOwl#hasDbXref Allan-Herndon-Dudley 症候群 Monocarboxylate transporter 8 deficiency https://identifiers.org/kegg.disease:H00650 NANDO:1200575 http://nanbyodata.jp/ontology/NANDO_1200575 parent H00679 NANDO:1200575 H00679 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性大脳白質形成不全症 Hypomyelinating leukodystrophy https://identifiers.org/kegg.disease:H00679 H00679 NANDO:1200575 H00679 http://www.geneontology.org/formats/oboInOwl#hasDbXref ペリツェウス・メルツバッヘル病 Hypomyelinating leukodystrophy https://identifiers.org/kegg.disease:H00679 H00679 NANDO:1200575 H00679 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性大脳白質形成不全症 Pelizaeus-Merzbacher disease (PMD) https://identifiers.org/kegg.disease:H00679 H00679 NANDO:1200575 H00679 http://www.geneontology.org/formats/oboInOwl#hasDbXref ペリツェウス・メルツバッヘル病 Pelizaeus-Merzbacher disease (PMD) https://identifiers.org/kegg.disease:H00679 NANDO:1200511 http://nanbyodata.jp/ontology/NANDO_1200511 parent H00831 NANDO:1200511 H00831 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性ジストニア Primary dystonia https://identifiers.org/kegg.disease:H00831 NANDO:1200542 http://nanbyodata.jp/ontology/NANDO_1200542 parent H00833 NANDO:1200542 H00833 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳の鉄沈着を伴う神経変性疾患 Neurodegeneration with brain iron accumulation https://identifiers.org/kegg.disease:H00833 NANDO:1200607 http://nanbyodata.jp/ontology/NANDO_1200607 parent H00915 NANDO:1200607 H00915 http://www.geneontology.org/formats/oboInOwl#hasDbXref 結節性硬化症 Tuberous sclerosis complex https://identifiers.org/kegg.disease:H00915 H00915 NANDO:1200607 H00915 http://www.geneontology.org/formats/oboInOwl#hasDbXref 結節性硬化症 Bourneville-Pringle disease https://identifiers.org/kegg.disease:H00915 NANDO:1200525 http://nanbyodata.jp/ontology/NANDO_1200525 parent H00998 NANDO:1200525 H00998 http://www.geneontology.org/formats/oboInOwl#hasDbXref 小児交互性片麻痺 Alternating hemiplegia of childhood https://identifiers.org/kegg.disease:H00998 NANDO:1200608 http://nanbyodata.jp/ontology/NANDO_1200608 parent H01428 NANDO:1200608 H01428 http://www.geneontology.org/formats/oboInOwl#hasDbXref 色素性乾皮症 Xeroderma pigmentosum https://identifiers.org/kegg.disease:H01428 NANDO:1200592 http://nanbyodata.jp/ontology/NANDO_1200592 parent H01460 NANDO:1200592 H01460 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウエスト症候群 Infantile spasms https://identifiers.org/kegg.disease:H01460 H01460 NANDO:1200592 H01460 http://www.geneontology.org/formats/oboInOwl#hasDbXref 点頭てんかん Infantile spasms https://identifiers.org/kegg.disease:H01460 H01460 NANDO:1200592 H01460 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウエスト症候群 West syndrome https://identifiers.org/kegg.disease:H01460 H01460 NANDO:1200592 H01460 http://www.geneontology.org/formats/oboInOwl#hasDbXref 点頭てんかん West syndrome https://identifiers.org/kegg.disease:H01460 NANDO:1200602 http://nanbyodata.jp/ontology/NANDO_1200602 parent H01514 NANDO:1200602 H01514 http://www.geneontology.org/formats/oboInOwl#hasDbXref ランドウ・クレフナー症候群 Landau-Kleffner syndrome https://identifiers.org/kegg.disease:H01514 NANDO:1200506 http://nanbyodata.jp/ontology/NANDO_1200506 parent H01675 NANDO:1200506 H01675 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脊髄空洞症 Syringomyelia https://identifiers.org/kegg.disease:H01675 NANDO:1200562 http://nanbyodata.jp/ontology/NANDO_1200562 parent H01776 NANDO:1200562 H01776 http://www.geneontology.org/formats/oboInOwl#hasDbXref アイカルディ症候群 Aicardi syndrome https://identifiers.org/kegg.disease:H01776 NANDO:1200510 http://nanbyodata.jp/ontology/NANDO_1200510 parent H01804 NANDO:1200510 H01804 http://www.geneontology.org/formats/oboInOwl#hasDbXref アイザックス症候群 Isaacs syndrome https://identifiers.org/kegg.disease:H01804 NANDO:1200546 http://nanbyodata.jp/ontology/NANDO_1200546 parent H01807 NANDO:1200546 H01807 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Hereditary diffuse leukoencephalopathy with spheroids https://identifiers.org/kegg.disease:H01807 NANDO:1200596 http://nanbyodata.jp/ontology/NANDO_1200596 parent H01808 NANDO:1200596 H01808 http://www.geneontology.org/formats/oboInOwl#hasDbXref 片側痙攣・片麻痺・てんかん症候群 Hemiconvulsion-hemiplegia-epilepsy syndrome https://identifiers.org/kegg.disease:H01808 NANDO:1200606 http://nanbyodata.jp/ontology/NANDO_1200606 parent H01809 NANDO:1200606 H01809 http://www.geneontology.org/formats/oboInOwl#hasDbXref スタージ・ウェーバー症候群 Sturge-Weber syndrome https://identifiers.org/kegg.disease:H01809 NANDO:1200598 http://nanbyodata.jp/ontology/NANDO_1200598 parent H01812 NANDO:1200598 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン脳炎 Rasmussen encephalitis https://identifiers.org/kegg.disease:H01812 H01812 NANDO:1200598 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン症候群 Rasmussen encephalitis https://identifiers.org/kegg.disease:H01812 H01812 NANDO:1200598 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン脳炎 Rasmussen syndrome https://identifiers.org/kegg.disease:H01812 H01812 NANDO:1200598 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン症候群 Rasmussen syndrome https://identifiers.org/kegg.disease:H01812 NANDO:1200591 http://nanbyodata.jp/ontology/NANDO_1200591 parent H01813 NANDO:1200591 H01813 http://www.geneontology.org/formats/oboInOwl#hasDbXref レノックス・ガストー症候群 Lennox-Gastaut syndrome https://identifiers.org/kegg.disease:H01813 NANDO:1200595 http://nanbyodata.jp/ontology/NANDO_1200595 parent H01815 NANDO:1200595 H01815 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遊走性焦点発作を伴う乳児てんかん Malignant migrating partial seizures in infancy https://identifiers.org/kegg.disease:H01815 NANDO:1200587 http://nanbyodata.jp/ontology/NANDO_1200587 parent H01818 NANDO:1200587 H01818 http://www.geneontology.org/formats/oboInOwl#hasDbXref ドラベ症候群 Dravet syndrome https://identifiers.org/kegg.disease:H01818 NANDO:1200594 http://nanbyodata.jp/ontology/NANDO_1200594 parent H01819 NANDO:1200594 H01819 http://www.geneontology.org/formats/oboInOwl#hasDbXref 早期ミオクロニー脳症 Early myoclonic encephalopathy https://identifiers.org/kegg.disease:H01819 NANDO:1200589 http://nanbyodata.jp/ontology/NANDO_1200589 parent H01822 NANDO:1200589 H01822 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミオクロニー欠神てんかん Epilepsy with myoclonic absence https://identifiers.org/kegg.disease:H01822 NANDO:1200590 http://nanbyodata.jp/ontology/NANDO_1200590 parent H01823 NANDO:1200590 H01823 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミオクロニー脱力発作を伴うてんかん Doose syndrome https://identifiers.org/kegg.disease:H01823 H01823 NANDO:1200590 H01823 http://www.geneontology.org/formats/oboInOwl#hasDbXref ドーゼ症候群 Doose syndrome https://identifiers.org/kegg.disease:H01823 H01823 NANDO:1200590 H01823 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミオクロニー脱力発作を伴うてんかん Myoclonic-astatic epilepsy https://identifiers.org/kegg.disease:H01823 H01823 NANDO:1200590 H01823 http://www.geneontology.org/formats/oboInOwl#hasDbXref ドーゼ症候群 Myoclonic-astatic epilepsy https://identifiers.org/kegg.disease:H01823 NANDO:1200588 http://nanbyodata.jp/ontology/NANDO_1200588 parent H01826 NANDO:1200588 H01826 http://www.geneontology.org/formats/oboInOwl#hasDbXref 海馬硬化を伴う内側側頭葉てんかん Mesial temporal lobe epilepsy with hippocampal sclerosis https://identifiers.org/kegg.disease:H01826 NANDO:1200600 http://nanbyodata.jp/ontology/NANDO_1200600 parent H01829 NANDO:1200600 H01829 http://www.geneontology.org/formats/oboInOwl#hasDbXref 難治頻回部分発作重積型急性脳炎 Acute encephalitis with refractory repetitive partial seizures https://identifiers.org/kegg.disease:H01829 NANDO:1200597 http://nanbyodata.jp/ontology/NANDO_1200597 parent H01831 NANDO:1200597 H01831 http://www.geneontology.org/formats/oboInOwl#hasDbXref 環状２０番染色体症候群 Ring chromosome 20 syndrome https://identifiers.org/kegg.disease:H01831 NANDO:1200563 http://nanbyodata.jp/ontology/NANDO_1200563 parent H01833 NANDO:1200563 H01833 http://www.geneontology.org/formats/oboInOwl#hasDbXref 片側巨脳症 Hemimegalencephaly https://identifiers.org/kegg.disease:H01833 NANDO:1200574 http://nanbyodata.jp/ontology/NANDO_1200574 parent H01835 NANDO:1200574 H01835 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経細胞移動異常症 Neuronal migration disorder https://identifiers.org/kegg.disease:H01835 NANDO:1200553 http://nanbyodata.jp/ontology/NANDO_1200553 parent H01836 NANDO:1200553 H01836 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性無痛無汗症 Congenital pain insensitivity with anhidrosis https://identifiers.org/kegg.disease:H01836 NANDO:1200558 http://nanbyodata.jp/ontology/NANDO_1200558 parent H01837 NANDO:1200558 H01837 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウースター・ドロート症候群 Congenital suprabulbar paresis https://identifiers.org/kegg.disease:H01837 H01837 NANDO:1200558 H01837 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性核上性球麻痺 Congenital suprabulbar paresis https://identifiers.org/kegg.disease:H01837 H01837 NANDO:1200558 H01837 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウースター・ドロート症候群 Worster Drought syndrome https://identifiers.org/kegg.disease:H01837 H01837 NANDO:1200558 H01837 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性核上性球麻痺 Worster Drought syndrome https://identifiers.org/kegg.disease:H01837 NANDO:1200559 http://nanbyodata.jp/ontology/NANDO_1200559 parent H01840 NANDO:1200559 H01840 http://www.geneontology.org/formats/oboInOwl#hasDbXref メビウス症候群 Moebius syndrome https://identifiers.org/kegg.disease:H01840 H01840 NANDO:1200559 H01840 http://www.geneontology.org/formats/oboInOwl#hasDbXref メビウス症候群 Mobius syndrome https://identifiers.org/kegg.disease:H01840 NANDO:1200552 http://nanbyodata.jp/ontology/NANDO_1200552 parent H01841 NANDO:1200552 H01841 http://www.geneontology.org/formats/oboInOwl#hasDbXref 痙攣重積型 (二相性) 急性脳症 Acute encephalopathy with biphasic seizures and late reduced diffusion https://identifiers.org/kegg.disease:H01841 NANDO:1200551 http://nanbyodata.jp/ontology/NANDO_1200551 parent H01842 NANDO:1200551 H01842 http://www.geneontology.org/formats/oboInOwl#hasDbXref ビッカースタッフ脳幹脳炎 Bickerstaff brainstem encephalitis https://identifiers.org/kegg.disease:H01842 NANDO:1200543 http://nanbyodata.jp/ontology/NANDO_1200543 parent H01846 NANDO:1200543 H01846 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳表ヘモジデリン沈着症 Superficial siderosis https://identifiers.org/kegg.disease:H01846 NANDO:1200505 http://nanbyodata.jp/ontology/NANDO_1200505 parent H01863 NANDO:1200505 H01863 http://www.geneontology.org/formats/oboInOwl#hasDbXref アトピー性脊髄炎 Atopic myelitis https://identifiers.org/kegg.disease:H01863 H01863 NANDO:1200505 H01863 http://www.geneontology.org/formats/oboInOwl#hasDbXref アトピー性脊髄炎 Eosinophilic myelitis https://identifiers.org/kegg.disease:H01863 NANDO:1200677 http://nanbyodata.jp/ontology/NANDO_1200677 parent H00076 NANDO:1200677 H00076 http://www.geneontology.org/formats/oboInOwl#hasDbXref コケイン症候群 Cockayne syndrome https://identifiers.org/kegg.disease:H00076 NANDO:1200620 http://nanbyodata.jp/ontology/NANDO_1200620 parent H00162 NANDO:1200620 H00162 http://www.geneontology.org/formats/oboInOwl#hasDbXref シェーグレン・ラルソン症候群 Sjogren-Larsson syndrome https://identifiers.org/kegg.disease:H00162 NANDO:1200638 http://nanbyodata.jp/ontology/NANDO_1200638 parent H00166 NANDO:1200638 H00166 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヘルマンスキー・パドラック症候群 Hermansky-Pudlak syndrome https://identifiers.org/kegg.disease:H00166 NANDO:1200637 http://nanbyodata.jp/ontology/NANDO_1200637 parent H00168 NANDO:1200637 H00168 http://www.geneontology.org/formats/oboInOwl#hasDbXref 眼皮膚白皮症 Oculocutaneous albinism https://identifiers.org/kegg.disease:H00168 NANDO:1200655 http://nanbyodata.jp/ontology/NANDO_1200655 parent H00210 NANDO:1200655 H00210 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィルソン病 Wilson disease https://identifiers.org/kegg.disease:H00210 H00210 NANDO:1200655 H00210 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝レンズ核変性症 Wilson disease https://identifiers.org/kegg.disease:H00210 H00210 NANDO:1200655 H00210 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィルソン病 Hepatolenticular degeneration https://identifiers.org/kegg.disease:H00210 H00210 NANDO:1200655 H00210 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝レンズ核変性症 Hepatolenticular degeneration https://identifiers.org/kegg.disease:H00210 NANDO:1200656 http://nanbyodata.jp/ontology/NANDO_1200656 parent H00213 NANDO:1200656 H00213 http://www.geneontology.org/formats/oboInOwl#hasDbXref 低ホスファターゼ症 Hypophosphatasia https://identifiers.org/kegg.disease:H00213 NANDO:1200658 http://nanbyodata.jp/ontology/NANDO_1200658 parent H00438 NANDO:1200658 H00438 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発性骨嚢胞および白質脳症 Nasu-Hakola disease https://identifiers.org/kegg.disease:H00438 H00438 NANDO:1200658 H00438 http://www.geneontology.org/formats/oboInOwl#hasDbXref 那須ハコラ病 Nasu-Hakola disease https://identifiers.org/kegg.disease:H00438 H00438 NANDO:1200658 H00438 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発性骨嚢胞および白質脳症 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy https://identifiers.org/kegg.disease:H00438 H00438 NANDO:1200658 H00438 http://www.geneontology.org/formats/oboInOwl#hasDbXref 那須ハコラ病 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy https://identifiers.org/kegg.disease:H00438 NANDO:1200678 http://nanbyodata.jp/ontology/NANDO_1200678 parent H00478 NANDO:1200678 H00478 http://www.geneontology.org/formats/oboInOwl#hasDbXref プラダー・ウィリー症候群 Prader-Willi syndrome https://identifiers.org/kegg.disease:H00478 NANDO:1200661 http://nanbyodata.jp/ontology/NANDO_1200661 parent H00530 NANDO:1200661 H00530 http://www.geneontology.org/formats/oboInOwl#hasDbXref ジュベール症候群関連疾患 Joubert syndrome and related disorders https://identifiers.org/kegg.disease:H00530 NANDO:1200643 http://nanbyodata.jp/ontology/NANDO_1200643 parent H00560 NANDO:1200643 H00560 http://www.geneontology.org/formats/oboInOwl#hasDbXref 弾性線維性仮性黄色腫 Pseudoxanthoma elasticum https://identifiers.org/kegg.disease:H00560 NANDO:1200672 http://nanbyodata.jp/ontology/NANDO_1200672 parent H00570 NANDO:1200672 H00570 http://www.geneontology.org/formats/oboInOwl#hasDbXref 歌舞伎症候群 Kabuki syndrome https://identifiers.org/kegg.disease:H00570 NANDO:1200660 http://nanbyodata.jp/ontology/NANDO_1200660 parent H00574 NANDO:1200660 H00574 http://www.geneontology.org/formats/oboInOwl#hasDbXref コフィン・ローリー症候群 Coffin-Lowry syndrome https://identifiers.org/kegg.disease:H00574 NANDO:1200679 http://nanbyodata.jp/ontology/NANDO_1200679 parent H00718 NANDO:1200679 H00718 http://www.geneontology.org/formats/oboInOwl#hasDbXref ソトス症候群 Sotos syndrome https://identifiers.org/kegg.disease:H00718 NANDO:1200614 http://nanbyodata.jp/ontology/NANDO_1200614 parent H00733 NANDO:1200614 H00733 http://www.geneontology.org/formats/oboInOwl#hasDbXref 道化師様魚鱗癬 Harlequin ichthyosis https://identifiers.org/kegg.disease:H00733 NANDO:1200622 http://nanbyodata.jp/ontology/NANDO_1200622 parent H00736 NANDO:1200622 H00736 http://www.geneontology.org/formats/oboInOwl#hasDbXref ドルフマン・シャナリン症候群 Dorfman-Chanarin syndrome https://identifiers.org/kegg.disease:H00736 H00736 NANDO:1200622 H00736 http://www.geneontology.org/formats/oboInOwl#hasDbXref ドルフマン・シャナリン症候群 Chanarin-Dorfman syndrome https://identifiers.org/kegg.disease:H00736 NANDO:1200645 http://nanbyodata.jp/ontology/NANDO_1200645 parent H00802 NANDO:1200645 H00802 http://www.geneontology.org/formats/oboInOwl#hasDbXref エーラス・ダンロス症候群 Ehlers-Danlos syndrome https://identifiers.org/kegg.disease:H00802 NANDO:1200631 http://nanbyodata.jp/ontology/NANDO_1200631 parent H00844 NANDO:1200631 H00844 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヘイリー・ヘイリー病 Familial benign chronic pemphigus https://identifiers.org/kegg.disease:H00844 H00844 NANDO:1200631 H00844 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性良性慢性天疱瘡 Familial benign chronic pemphigus https://identifiers.org/kegg.disease:H00844 H00844 NANDO:1200631 H00844 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヘイリー・ヘイリー病 Hailey-Hailey disease https://identifiers.org/kegg.disease:H00844 H00844 NANDO:1200631 H00844 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性良性慢性天疱瘡 Hailey-Hailey disease https://identifiers.org/kegg.disease:H00844 NANDO:1200663 http://nanbyodata.jp/ontology/NANDO_1200663 parent H00908 NANDO:1200663 H00908 http://www.geneontology.org/formats/oboInOwl#hasDbXref モワットウィルソン症候群 Mowat-Wilson syndrome https://identifiers.org/kegg.disease:H00908 NANDO:1200670 http://nanbyodata.jp/ontology/NANDO_1200670 parent H01403 NANDO:1200670 H01403 http://www.geneontology.org/formats/oboInOwl#hasDbXref コフィン・シリス症候群 Coffin-Siris syndrome https://identifiers.org/kegg.disease:H01403 NANDO:1200664 http://nanbyodata.jp/ontology/NANDO_1200664 parent H01439 NANDO:1200664 H01439 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィリアムズ症候群 Williams-Beuren syndrome https://identifiers.org/kegg.disease:H01439 NANDO:1200632 http://nanbyodata.jp/ontology/NANDO_1200632 parent H01650 NANDO:1200632 H01650 http://www.geneontology.org/formats/oboInOwl#hasDbXref 類天疱瘡 Pemphigoid https://identifiers.org/kegg.disease:H01650 NANDO:1200676 http://nanbyodata.jp/ontology/NANDO_1200676 parent H01733 NANDO:1200676 H01733 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウェルナー症候群 Werner syndrome https://identifiers.org/kegg.disease:H01733 NANDO:1200671 http://nanbyodata.jp/ontology/NANDO_1200671 parent H01734 NANDO:1200671 H01734 http://www.geneontology.org/formats/oboInOwl#hasDbXref ロスムンド・トムソン症候群 Rothmund-Thomson syndrome https://identifiers.org/kegg.disease:H01734 NANDO:1200680 http://nanbyodata.jp/ontology/NANDO_1200680 parent H01738 NANDO:1200680 H01738 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヌーナン症候群 Noonan syndrome https://identifiers.org/kegg.disease:H01738 NANDO:1200659 http://nanbyodata.jp/ontology/NANDO_1200659 parent H01751 NANDO:1200659 H01751 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィーバー症候群 Weaver syndrome https://identifiers.org/kegg.disease:H01751 NANDO:1200665 http://nanbyodata.jp/ontology/NANDO_1200665 parent H01752 NANDO:1200665 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖アルファサラセミア精神遅滞症候群 ATR-X syndrome https://identifiers.org/kegg.disease:H01752 H01752 NANDO:1200665 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref ATR-X 症候群 ATR-X syndrome https://identifiers.org/kegg.disease:H01752 H01752 NANDO:1200665 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖アルファサラセミア精神遅滞症候群 X-linked alpha-thalassemia/mental retardation syndrome https://identifiers.org/kegg.disease:H01752 H01752 NANDO:1200665 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref ATR-X 症候群 X-linked alpha-thalassemia/mental retardation syndrome https://identifiers.org/kegg.disease:H01752 NANDO:1200669 http://nanbyodata.jp/ontology/NANDO_1200669 parent H01753 NANDO:1200669 H01753 http://www.geneontology.org/formats/oboInOwl#hasDbXref アントレー・ビクスラー症候群 Antley-Bixler syndrome https://identifiers.org/kegg.disease:H01753 NANDO:1200666 http://nanbyodata.jp/ontology/NANDO_1200666 parent H01754 NANDO:1200666 H01754 http://www.geneontology.org/formats/oboInOwl#hasDbXref クルーゾン症候群 Crouzon syndrome https://identifiers.org/kegg.disease:H01754 NANDO:1200667 http://nanbyodata.jp/ontology/NANDO_1200667 parent H01755 NANDO:1200667 H01755 http://www.geneontology.org/formats/oboInOwl#hasDbXref アペール症候群 Apert syndrome https://identifiers.org/kegg.disease:H01755 NANDO:1200668 http://nanbyodata.jp/ontology/NANDO_1200668 parent H01756 NANDO:1200668 H01756 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファイファー症候群 Pfeiffer syndrome https://identifiers.org/kegg.disease:H01756 NANDO:1200673 http://nanbyodata.jp/ontology/NANDO_1200673 parent H01764 NANDO:1200673 H01764 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多脾症候群 Polysplenia syndrome https://identifiers.org/kegg.disease:H01764 NANDO:1200609 http://nanbyodata.jp/ontology/NANDO_1200609 parent H01771 NANDO:1200609 H01771 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性魚鱗癬 Congenital ichthyosis https://identifiers.org/kegg.disease:H01771 NANDO:1200682 http://nanbyodata.jp/ontology/NANDO_1200682 parent H01792 NANDO:1200682 H01792 http://www.geneontology.org/formats/oboInOwl#hasDbXref 1p36 欠失症候群 1p36 deletion syndrome https://identifiers.org/kegg.disease:H01792 NANDO:1200681 http://nanbyodata.jp/ontology/NANDO_1200681 parent H01793 NANDO:1200681 H01793 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヤング・シンプソン症候群 Young-Simpson syndrome https://identifiers.org/kegg.disease:H01793 H01793 NANDO:1200681 H01793 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヤング・シンプソン症候群 Say-Barber-Biesecker-Young-Simpson syndrome https://identifiers.org/kegg.disease:H01793 H01793 NANDO:1200681 H01793 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヤング・シンプソン症候群 Say-Barber-Biesecker variant of Ohdo syndrome https://identifiers.org/kegg.disease:H01793 NANDO:1200662 http://nanbyodata.jp/ontology/NANDO_1200662 parent H01811 NANDO:1200662 H01811 http://www.geneontology.org/formats/oboInOwl#hasDbXref 有馬症候群 Arima syndrome https://identifiers.org/kegg.disease:H01811 NANDO:1200636 http://nanbyodata.jp/ontology/NANDO_1200636 parent H01848 NANDO:1200636 H01848 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性後天性全身性無汗症 Acquired idiopathic generalized anhidrosis https://identifiers.org/kegg.disease:H01848 NANDO:1200654 http://nanbyodata.jp/ontology/NANDO_1200654 parent H01859 NANDO:1200654 H01859 http://www.geneontology.org/formats/oboInOwl#hasDbXref オクシピタル・ホーン症候群 Occipital horn syndrome https://identifiers.org/kegg.disease:H01859 NANDO:1200640 http://nanbyodata.jp/ontology/NANDO_1200640 parent H02022 NANDO:1200640 H02022 http://www.geneontology.org/formats/oboInOwl#hasDbXref グリセリ症候群 Griscelli syndrome https://identifiers.org/kegg.disease:H02022 NANDO:1200761 http://nanbyodata.jp/ontology/NANDO_1200761 parent H00177 NANDO:1200761 H00177 http://www.geneontology.org/formats/oboInOwl#hasDbXref 新生児型副腎白質ジストロフィー Neonatal adrenoleukodystrophy https://identifiers.org/kegg.disease:H00177 NANDO:1200759 http://nanbyodata.jp/ontology/NANDO_1200759 parent H00205 NANDO:1200759 H00205 http://www.geneontology.org/formats/oboInOwl#hasDbXref ペルオキシソーム形成異常症 Peroxisome biogenesis disorder https://identifiers.org/kegg.disease:H00205 NANDO:1200746 http://nanbyodata.jp/ontology/NANDO_1200746 parent H00217 NANDO:1200746 H00217 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺胞蛋白症 Pulmonary alveolar proteinosis https://identifiers.org/kegg.disease:H00217 NANDO:1200742 http://nanbyodata.jp/ontology/NANDO_1200742 parent H00252 NANDO:1200742 H00252 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性腎性尿崩症 Congenital nephrogenic diabetes insipidus https://identifiers.org/kegg.disease:H00252 NANDO:1200764 http://nanbyodata.jp/ontology/NANDO_1200764 parent H00407 NANDO:1200764 H00407 http://www.geneontology.org/formats/oboInOwl#hasDbXref ペルオキシソームβ酸化系酵素欠損症 Peroxisomal beta-oxidation enzyme deficiency https://identifiers.org/kegg.disease:H00407 NANDO:1200692 http://nanbyodata.jp/ontology/NANDO_1200692 parent H00465 NANDO:1200692 H00465 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脆弱Ｘ症候群 Fragile X syndrome https://identifiers.org/kegg.disease:H00465 NANDO:1200744 http://nanbyodata.jp/ontology/NANDO_1200744 parent H00533 NANDO:1200744 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref オスラー病 Hereditary hemorrhagic telangiectasia https://identifiers.org/kegg.disease:H00533 H00533 NANDO:1200744 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性出血性毛細血管拡張症 Hereditary hemorrhagic telangiectasia https://identifiers.org/kegg.disease:H00533 H00533 NANDO:1200744 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref オスラー病 Osler disease https://identifiers.org/kegg.disease:H00533 H00533 NANDO:1200744 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性出血性毛細血管拡張症 Osler disease https://identifiers.org/kegg.disease:H00533 NANDO:1200709 http://nanbyodata.jp/ontology/NANDO_1200709 parent H00549 NANDO:1200709 H00549 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファロー四徴症 Tetralogy of Fallot https://identifiers.org/kegg.disease:H00549 NANDO:1200699 http://nanbyodata.jp/ontology/NANDO_1200699 parent H00550 NANDO:1200699 H00550 http://www.geneontology.org/formats/oboInOwl#hasDbXref 完全大血管転位症 Complete transposition of the great arteries https://identifiers.org/kegg.disease:H00550 NANDO:1200712 http://nanbyodata.jp/ontology/NANDO_1200712 parent H00581 NANDO:1200712 H00581 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルポート症候群 Alport syndrome https://identifiers.org/kegg.disease:H00581 NANDO:1200722 http://nanbyodata.jp/ontology/NANDO_1200722 parent H00626 NANDO:1200722 H00626 http://www.geneontology.org/formats/oboInOwl#hasDbXref 巣状分節性糸球体硬化症 Focal segmental glomerulosclerosis https://identifiers.org/kegg.disease:H00626 NANDO:1200684 http://nanbyodata.jp/ontology/NANDO_1200684 parent H00764 NANDO:1200684 H00764 http://www.geneontology.org/formats/oboInOwl#hasDbXref 5p欠失症候群 Cri du chat syndrome https://identifiers.org/kegg.disease:H00764 H00764 NANDO:1200684 H00764 http://www.geneontology.org/formats/oboInOwl#hasDbXref 猫鳴き症候群 Cri du chat syndrome https://identifiers.org/kegg.disease:H00764 H00764 NANDO:1200684 H00764 http://www.geneontology.org/formats/oboInOwl#hasDbXref 5p欠失症候群 Cat cry syndrome https://identifiers.org/kegg.disease:H00764 H00764 NANDO:1200684 H00764 http://www.geneontology.org/formats/oboInOwl#hasDbXref 猫鳴き症候群 Cat cry syndrome https://identifiers.org/kegg.disease:H00764 H00764 NANDO:1200684 H00764 http://www.geneontology.org/formats/oboInOwl#hasDbXref 5p欠失症候群 Chromosome 5p deletion syndrome https://identifiers.org/kegg.disease:H00764 H00764 NANDO:1200684 H00764 http://www.geneontology.org/formats/oboInOwl#hasDbXref 猫鳴き症候群 Chromosome 5p deletion syndrome https://identifiers.org/kegg.disease:H00764 NANDO:1200757 http://nanbyodata.jp/ontology/NANDO_1200757 parent H00854 NANDO:1200757 H00854 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウォルフラム症候群 Wolfram syndrome https://identifiers.org/kegg.disease:H00854 H00854 NANDO:1200757 H00854 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウォルフラム症候群 DIDMOAD syndrome https://identifiers.org/kegg.disease:H00854 NANDO:1200753 http://nanbyodata.jp/ontology/NANDO_1200753 parent H00916 NANDO:1200753 H00916 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性中枢性低換気症候群 Congenital central hypoventilation syndrome https://identifiers.org/kegg.disease:H00916 NANDO:1200710 http://nanbyodata.jp/ontology/NANDO_1200710 parent H00918 NANDO:1200710 H00918 http://www.geneontology.org/formats/oboInOwl#hasDbXref 両大血管右室起始症 Double-outlet right ventricle https://identifiers.org/kegg.disease:H00918 NANDO:1200755 http://nanbyodata.jp/ontology/NANDO_1200755 parent H01103 NANDO:1200755 H01103 http://www.geneontology.org/formats/oboInOwl#hasDbXref α1-アンチトリプシン欠乏症 Alpha-1-antitrypsin deficiency https://identifiers.org/kegg.disease:H01103 NANDO:1200750 http://nanbyodata.jp/ontology/NANDO_1200750 parent H01122 NANDO:1200750 H01122 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性肺胞蛋白症 Congenital pulmonary alveolar proteinosis https://identifiers.org/kegg.disease:H01122 H01122 NANDO:1200750 H01122 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺サーファクタント代謝異常症 Congenital pulmonary alveolar proteinosis https://identifiers.org/kegg.disease:H01122 H01122 NANDO:1200750 H01122 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性肺胞蛋白症 Pulmonary surfactant metabolism dysfunction https://identifiers.org/kegg.disease:H01122 H01122 NANDO:1200750 H01122 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺サーファクタント代謝異常症 Pulmonary surfactant metabolism dysfunction https://identifiers.org/kegg.disease:H01122 NANDO:1200705 http://nanbyodata.jp/ontology/NANDO_1200705 parent H01272 NANDO:1200705 H01272 http://www.geneontology.org/formats/oboInOwl#hasDbXref 左心低形成症候群 Hypoplastic left heart syndrome https://identifiers.org/kegg.disease:H01272 NANDO:1200760 http://nanbyodata.jp/ontology/NANDO_1200760 parent H01342 NANDO:1200760 H01342 http://www.geneontology.org/formats/oboInOwl#hasDbXref ツェルウエーガー症候群 Zellweger syndrome https://identifiers.org/kegg.disease:H01342 NANDO:1200688 http://nanbyodata.jp/ontology/NANDO_1200688 parent H01525 NANDO:1200688 H01525 http://www.geneontology.org/formats/oboInOwl#hasDbXref 22q11.2 欠失症候群 22q11.2 deletion syndrome https://identifiers.org/kegg.disease:H01525 H01525 NANDO:1200688 H01525 http://www.geneontology.org/formats/oboInOwl#hasDbXref キャッチ 22 22q11.2 deletion syndrome https://identifiers.org/kegg.disease:H01525 H01525 NANDO:1200688 H01525 http://www.geneontology.org/formats/oboInOwl#hasDbXref 22q11.2 欠失症候群 CATCH22 https://identifiers.org/kegg.disease:H01525 H01525 NANDO:1200688 H01525 http://www.geneontology.org/formats/oboInOwl#hasDbXref キャッチ 22 CATCH22 https://identifiers.org/kegg.disease:H01525 NANDO:1200714 http://nanbyodata.jp/ontology/NANDO_1200714 parent H01688 NANDO:1200714 H01688 http://www.geneontology.org/formats/oboInOwl#hasDbXref 急速進行性糸球体腎炎 Rapidly progressive glomerulonephritis https://identifiers.org/kegg.disease:H01688 NANDO:1200752 http://nanbyodata.jp/ontology/NANDO_1200752 parent H01715 NANDO:1200752 H01715 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肥満低換気症候群 Obesity hypoventilation syndrome https://identifiers.org/kegg.disease:H01715 H01715 NANDO:1200752 H01715 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肥満低換気症候群 Pickwickian Syndrome https://identifiers.org/kegg.disease:H01715 NANDO:1200718 http://nanbyodata.jp/ontology/NANDO_1200718 parent H01721 NANDO:1200718 H01721 http://www.geneontology.org/formats/oboInOwl#hasDbXref グッドパスチャー症候群 Goodpasture syndrome https://identifiers.org/kegg.disease:H01721 H01721 NANDO:1200718 H01721 http://www.geneontology.org/formats/oboInOwl#hasDbXref 抗糸球体基底膜腎炎 Goodpasture syndrome https://identifiers.org/kegg.disease:H01721 H01721 NANDO:1200718 H01721 http://www.geneontology.org/formats/oboInOwl#hasDbXref グッドパスチャー症候群 Anti-glomerular basement membrane (GBM) disease https://identifiers.org/kegg.disease:H01721 H01721 NANDO:1200718 H01721 http://www.geneontology.org/formats/oboInOwl#hasDbXref 抗糸球体基底膜腎炎 Anti-glomerular basement membrane (GBM) disease https://identifiers.org/kegg.disease:H01721 NANDO:1200713 http://nanbyodata.jp/ontology/NANDO_1200713 parent H01722 NANDO:1200713 H01722 http://www.geneontology.org/formats/oboInOwl#hasDbXref ギャロウェイ・モワト症候群 Galloway-Mowat syndrome https://identifiers.org/kegg.disease:H01722 NANDO:1200690 http://nanbyodata.jp/ontology/NANDO_1200690 parent H01731 NANDO:1200690 H01731 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脆弱Ｘ症候群関連疾患 Fragile X tremor/ataxia syndrome https://identifiers.org/kegg.disease:H01731 H01731 NANDO:1200690 H01731 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脆弱X随伴振戦／失調症候群 Fragile X tremor/ataxia syndrome https://identifiers.org/kegg.disease:H01731 NANDO:1200686 http://nanbyodata.jp/ontology/NANDO_1200686 parent H01732 NANDO:1200686 H01732 http://www.geneontology.org/formats/oboInOwl#hasDbXref アンジェルマン症候群 Angelman syndrome https://identifiers.org/kegg.disease:H01732 NANDO:1200693 http://nanbyodata.jp/ontology/NANDO_1200693 parent H01736 NANDO:1200693 H01736 http://www.geneontology.org/formats/oboInOwl#hasDbXref 総動脈幹遺残症 Persistent truncus arteriosus https://identifiers.org/kegg.disease:H01736 NANDO:1200741 http://nanbyodata.jp/ontology/NANDO_1200741 parent H01767 NANDO:1200741 H01767 http://www.geneontology.org/formats/oboInOwl#hasDbXref 紫斑病性腎炎 Henoch-Schonlein purpura nephritis https://identifiers.org/kegg.disease:H01767 NANDO:1200683 http://nanbyodata.jp/ontology/NANDO_1200683 parent H01773 NANDO:1200683 H01773 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウォルフ・ヒルシュホーン症候群 4p deletion syndrome https://identifiers.org/kegg.disease:H01773 H01773 NANDO:1200683 H01773 http://www.geneontology.org/formats/oboInOwl#hasDbXref 4p 欠失症候群 4p deletion syndrome https://identifiers.org/kegg.disease:H01773 H01773 NANDO:1200683 H01773 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウォルフ・ヒルシュホーン症候群 Wolf-Hirschhorn syndrome https://identifiers.org/kegg.disease:H01773 H01773 NANDO:1200683 H01773 http://www.geneontology.org/formats/oboInOwl#hasDbXref 4p 欠失症候群 Wolf-Hirschhorn syndrome https://identifiers.org/kegg.disease:H01773 NANDO:1200711 http://nanbyodata.jp/ontology/NANDO_1200711 parent H01783 NANDO:1200711 H01783 http://www.geneontology.org/formats/oboInOwl#hasDbXref エプスタイン病 Ebstein anomaly https://identifiers.org/kegg.disease:H01783 NANDO:1200706 http://nanbyodata.jp/ontology/NANDO_1200706 parent H01785 NANDO:1200706 H01785 http://www.geneontology.org/formats/oboInOwl#hasDbXref 三尖弁閉鎖症 Tricuspid atresia https://identifiers.org/kegg.disease:H01785 NANDO:1200698 http://nanbyodata.jp/ontology/NANDO_1200698 parent H01786 NANDO:1200698 H01786 http://www.geneontology.org/formats/oboInOwl#hasDbXref 修正大血管転位症 Congenitally corrected transposition of the great arteries https://identifiers.org/kegg.disease:H01786 NANDO:1200704 http://nanbyodata.jp/ontology/NANDO_1200704 parent H01787 NANDO:1200704 H01787 http://www.geneontology.org/formats/oboInOwl#hasDbXref 単心室症 Univentricular heart https://identifiers.org/kegg.disease:H01787 NANDO:1200689 http://nanbyodata.jp/ontology/NANDO_1200689 parent H01790 NANDO:1200689 H01790 http://www.geneontology.org/formats/oboInOwl#hasDbXref エマヌエル症候群 Emanuel syndrome https://identifiers.org/kegg.disease:H01790 H01790 NANDO:1200689 H01790 http://www.geneontology.org/formats/oboInOwl#hasDbXref 22番過剰派生染色体症候群 Emanuel syndrome https://identifiers.org/kegg.disease:H01790 H01790 NANDO:1200689 H01790 http://www.geneontology.org/formats/oboInOwl#hasDbXref エマヌエル症候群 Supernumerary derivative 22 syndrome https://identifiers.org/kegg.disease:H01790 H01790 NANDO:1200689 H01790 http://www.geneontology.org/formats/oboInOwl#hasDbXref 22番過剰派生染色体症候群 Supernumerary derivative 22 syndrome https://identifiers.org/kegg.disease:H01790 NANDO:1200687 http://nanbyodata.jp/ontology/NANDO_1200687 parent H01791 NANDO:1200687 H01791 http://www.geneontology.org/formats/oboInOwl#hasDbXref スミス・マギニス症候群 Smith-Magenis syndrome https://identifiers.org/kegg.disease:H01791 NANDO:1200685 http://nanbyodata.jp/ontology/NANDO_1200685 parent H01801 NANDO:1200685 H01801 http://www.geneontology.org/formats/oboInOwl#hasDbXref 鏡・緒方症候群 Kagami-Ogata syndrome https://identifiers.org/kegg.disease:H01801 H01801 NANDO:1200685 H01801 http://www.geneontology.org/formats/oboInOwl#hasDbXref 第１４番染色体父親性ダイソミー症候群 Kagami-Ogata syndrome https://identifiers.org/kegg.disease:H01801 H01801 NANDO:1200685 H01801 http://www.geneontology.org/formats/oboInOwl#hasDbXref 鏡・緒方症候群 Paternal uniparental disomy 14 https://identifiers.org/kegg.disease:H01801 H01801 NANDO:1200685 H01801 http://www.geneontology.org/formats/oboInOwl#hasDbXref 第１４番染色体父親性ダイソミー症候群 Paternal uniparental disomy 14 https://identifiers.org/kegg.disease:H01801 NANDO:1200707 http://nanbyodata.jp/ontology/NANDO_1200707 parent H01802 NANDO:1200707 H01802 http://www.geneontology.org/formats/oboInOwl#hasDbXref 心室中隔欠損を伴わない肺動脈閉鎖症 Pulmonary atresia with intact ventricular septum https://identifiers.org/kegg.disease:H01802 NANDO:1200708 http://nanbyodata.jp/ontology/NANDO_1200708 parent H01803 NANDO:1200708 H01803 http://www.geneontology.org/formats/oboInOwl#hasDbXref 心室中隔欠損を伴う肺動脈閉鎖症 Pulmonary atresia with ventricular septal defect https://identifiers.org/kegg.disease:H01803 NANDO:1200756 http://nanbyodata.jp/ontology/NANDO_1200756 parent H01820 NANDO:1200756 H01820 http://www.geneontology.org/formats/oboInOwl#hasDbXref カーニー複合 Carney complex https://identifiers.org/kegg.disease:H01820 NANDO:1200745 http://nanbyodata.jp/ontology/NANDO_1200745 parent H01873 NANDO:1200745 H01873 http://www.geneontology.org/formats/oboInOwl#hasDbXref 閉塞性細気管支炎 Bronchiolitis obliterans https://identifiers.org/kegg.disease:H01873 H01873 NANDO:1200745 H01873 http://www.geneontology.org/formats/oboInOwl#hasDbXref 閉塞性細気管支炎 Obliterative bronchiolitis https://identifiers.org/kegg.disease:H01873 NANDO:1200769 http://nanbyodata.jp/ontology/NANDO_1200769 parent H00075 NANDO:1200769 H00075 http://www.geneontology.org/formats/oboInOwl#hasDbXref レフスム病 Refsum disease https://identifiers.org/kegg.disease:H00075 H00075 NANDO:1200769 H00075 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発神経炎型遺伝性失調症 Refsum disease https://identifiers.org/kegg.disease:H00075 H00075 NANDO:1200769 H00075 http://www.geneontology.org/formats/oboInOwl#hasDbXref レフスム病 Heredopathia atactica polyneuritiformis https://identifiers.org/kegg.disease:H00075 H00075 NANDO:1200769 H00075 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発神経炎型遺伝性失調症 Heredopathia atactica polyneuritiformis https://identifiers.org/kegg.disease:H00075 NANDO:1200856 http://nanbyodata.jp/ontology/NANDO_1200856 parent H00151 NANDO:1200856 H00151 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳腱黄色腫症 Cerebrotendinous xanthomatosis https://identifiers.org/kegg.disease:H00151 H00151 NANDO:1200856 H00151 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヴァン-ボガエール病 Cerebrotendinous xanthomatosis https://identifiers.org/kegg.disease:H00151 H00151 NANDO:1200856 H00151 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳腱黄色腫症 Van Bogaert-Scherer-Epstein Disease https://identifiers.org/kegg.disease:H00151 H00151 NANDO:1200856 H00151 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヴァン-ボガエール病 Van Bogaert-Scherer-Epstein Disease https://identifiers.org/kegg.disease:H00151 NANDO:1200853 http://nanbyodata.jp/ontology/NANDO_1200853 parent H00152 NANDO:1200853 H00152 http://www.geneontology.org/formats/oboInOwl#hasDbXref シトステロール血症 Sitosterolemia https://identifiers.org/kegg.disease:H00152 NANDO:1200852 http://nanbyodata.jp/ontology/NANDO_1200852 parent H00158 NANDO:1200852 H00158 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Norum disease https://identifiers.org/kegg.disease:H00158 H00158 NANDO:1200852 H00158 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Fish-eye disease https://identifiers.org/kegg.disease:H00158 H00158 NANDO:1200852 H00158 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Lecithin https://identifiers.org/kegg.disease:H00158 NANDO:1200854 http://nanbyodata.jp/ontology/NANDO_1200854 parent H00159 NANDO:1200854 H00159 http://www.geneontology.org/formats/oboInOwl#hasDbXref タンジール病 Tangier disease https://identifiers.org/kegg.disease:H00159 NANDO:1200857 http://nanbyodata.jp/ontology/NANDO_1200857 parent H00160 NANDO:1200857 H00160 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無βリポタンパク血症 Abetalipoproteinemia https://identifiers.org/kegg.disease:H00160 H00160 NANDO:1200857 H00160 http://www.geneontology.org/formats/oboInOwl#hasDbXref バッセン・コーンツヴァイク病 Abetalipoproteinemia https://identifiers.org/kegg.disease:H00160 H00160 NANDO:1200857 H00160 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無βリポタンパク血症 Bassen-Kornzweig Disease https://identifiers.org/kegg.disease:H00160 H00160 NANDO:1200857 H00160 http://www.geneontology.org/formats/oboInOwl#hasDbXref バッセン・コーンツヴァイク病 Bassen-Kornzweig Disease https://identifiers.org/kegg.disease:H00160 NANDO:1200784 http://nanbyodata.jp/ontology/NANDO_1200784 parent H00167 NANDO:1200784 H00167 http://www.geneontology.org/formats/oboInOwl#hasDbXref フェニルケトン尿症 Hyperphenylalaninemia https://identifiers.org/kegg.disease:H00167 H00167 NANDO:1200784 H00167 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高フェニルアラニン血症 Hyperphenylalaninemia https://identifiers.org/kegg.disease:H00167 H00167 NANDO:1200784 H00167 http://www.geneontology.org/formats/oboInOwl#hasDbXref フェニルケトン尿症 Phenylketonuria https://identifiers.org/kegg.disease:H00167 H00167 NANDO:1200784 H00167 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高フェニルアラニン血症 Phenylketonuria https://identifiers.org/kegg.disease:H00167 NANDO:1200791 http://nanbyodata.jp/ontology/NANDO_1200791 parent H00172 NANDO:1200791 H00172 http://www.geneontology.org/formats/oboInOwl#hasDbXref メープルシロップ尿症 Maple syrup urine disease https://identifiers.org/kegg.disease:H00172 NANDO:1200798 http://nanbyodata.jp/ontology/NANDO_1200798 parent H00173 NANDO:1200798 H00173 http://www.geneontology.org/formats/oboInOwl#hasDbXref イソ吉草酸血症 Isovaleric acidemia https://identifiers.org/kegg.disease:H00173 NANDO:1200793 http://nanbyodata.jp/ontology/NANDO_1200793 parent H00174 NANDO:1200793 H00174 http://www.geneontology.org/formats/oboInOwl#hasDbXref メチルマロン酸血症 Methylmalonic acidemia https://identifiers.org/kegg.disease:H00174 H00174 NANDO:1200793 H00174 http://www.geneontology.org/formats/oboInOwl#hasDbXref メチルマロン酸尿症 Methylmalonic acidemia https://identifiers.org/kegg.disease:H00174 H00174 NANDO:1200793 H00174 http://www.geneontology.org/formats/oboInOwl#hasDbXref メチルマロン酸血症 Methylmalonic aciduria https://identifiers.org/kegg.disease:H00174 H00174 NANDO:1200793 H00174 http://www.geneontology.org/formats/oboInOwl#hasDbXref メチルマロン酸尿症 Methylmalonic aciduria https://identifiers.org/kegg.disease:H00174 NANDO:1200792 http://nanbyodata.jp/ontology/NANDO_1200792 parent H00175 NANDO:1200792 H00175 http://www.geneontology.org/formats/oboInOwl#hasDbXref プロピオン酸血症 Propionic acidemia https://identifiers.org/kegg.disease:H00175 NANDO:1200821 http://nanbyodata.jp/ontology/NANDO_1200821 parent H00180 NANDO:1200821 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホロカルボキシラーゼ合成酵素欠損症 Holocarboxylase synthetase deficiency https://identifiers.org/kegg.disease:H00180 H00180 NANDO:1200821 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref 複合カルボキシラーゼ欠損症 Holocarboxylase synthetase deficiency https://identifiers.org/kegg.disease:H00180 H00180 NANDO:1200821 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホロカルボキシラーゼ合成酵素欠損症 Multiple carboxylase deficiency https://identifiers.org/kegg.disease:H00180 H00180 NANDO:1200821 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref 複合カルボキシラーゼ欠損症 Multiple carboxylase deficiency https://identifiers.org/kegg.disease:H00180 NANDO:1200820 http://nanbyodata.jp/ontology/NANDO_1200820 parent H00180 NANDO:1200820 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホロカルボキシラーゼ合成酵素欠損症 Holocarboxylase synthetase deficiency https://identifiers.org/kegg.disease:H00180 H00180 NANDO:1200820 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref 複合カルボキシラーゼ欠損症 Holocarboxylase synthetase deficiency https://identifiers.org/kegg.disease:H00180 H00180 NANDO:1200820 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホロカルボキシラーゼ合成酵素欠損症 Multiple carboxylase deficiency https://identifiers.org/kegg.disease:H00180 H00180 NANDO:1200820 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref 複合カルボキシラーゼ欠損症 Multiple carboxylase deficiency https://identifiers.org/kegg.disease:H00180 NANDO:1200804 http://nanbyodata.jp/ontology/NANDO_1200804 parent H00187 NANDO:1200804 H00187 http://www.geneontology.org/formats/oboInOwl#hasDbXref オルニチントランスカルバミラーゼ欠損症 Ornithine transcarbamylase deficiency https://identifiers.org/kegg.disease:H00187 NANDO:1200774 http://nanbyodata.jp/ontology/NANDO_1200774 parent H00203 NANDO:1200774 H00203 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無カタラーゼ血症 Acatalasemia https://identifiers.org/kegg.disease:H00203 H00203 NANDO:1200774 H00203 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高原病 Acatalasemia https://identifiers.org/kegg.disease:H00203 H00203 NANDO:1200774 H00203 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無カタラーゼ血症 Takahara disease https://identifiers.org/kegg.disease:H00203 H00203 NANDO:1200774 H00203 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高原病 Takahara disease https://identifiers.org/kegg.disease:H00203 NANDO:1200776 http://nanbyodata.jp/ontology/NANDO_1200776 parent H00244 NANDO:1200776 H00244 http://www.geneontology.org/formats/oboInOwl#hasDbXref 偽性副甲状腺機能低下症 Pseudohypoparathyroidism https://identifiers.org/kegg.disease:H00244 NANDO:1200777 http://nanbyodata.jp/ontology/NANDO_1200777 parent H00256 NANDO:1200777 H00256 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副腎皮質刺激ホルモン不応症 Familial glucocorticoid deficiency https://identifiers.org/kegg.disease:H00256 H00256 NANDO:1200777 H00256 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性糖質コルチコイド欠損症 Familial glucocorticoid deficiency https://identifiers.org/kegg.disease:H00256 NANDO:1200868 http://nanbyodata.jp/ontology/NANDO_1200868 parent H00287 NANDO:1200868 H00287 http://www.geneontology.org/formats/oboInOwl#hasDbXref 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome https://identifiers.org/kegg.disease:H00287 NANDO:1200863 http://nanbyodata.jp/ontology/NANDO_1200863 parent H00288 NANDO:1200863 H00288 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性地中海熱 Familial Mediterranean fever https://identifiers.org/kegg.disease:H00288 H00288 NANDO:1200863 H00288 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性地中海熱 Familial hereditary periodic fever syndromes https://identifiers.org/kegg.disease:H00288 NANDO:1200799 http://nanbyodata.jp/ontology/NANDO_1200799 parent H00836 NANDO:1200799 H00836 http://www.geneontology.org/formats/oboInOwl#hasDbXref グルコーストランスポーター1欠損症 GLUT1 deficiency syndrome https://identifiers.org/kegg.disease:H00836 H00836 NANDO:1200799 H00836 http://www.geneontology.org/formats/oboInOwl#hasDbXref GLUT1欠損症候群 GLUT1 deficiency syndrome https://identifiers.org/kegg.disease:H00836 H00836 NANDO:1200799 H00836 http://www.geneontology.org/formats/oboInOwl#hasDbXref グルコーストランスポーター1欠損症 Glucose transport defect of the blood-brain barrier https://identifiers.org/kegg.disease:H00836 H00836 NANDO:1200799 H00836 http://www.geneontology.org/formats/oboInOwl#hasDbXref GLUT1欠損症候群 Glucose transport defect of the blood-brain barrier https://identifiers.org/kegg.disease:H00836 NANDO:1200809 http://nanbyodata.jp/ontology/NANDO_1200809 parent H00899 NANDO:1200809 H00899 http://www.geneontology.org/formats/oboInOwl#hasDbXref リジン尿性蛋白不耐症 Lysinuric protein intolerance https://identifiers.org/kegg.disease:H00899 NANDO:1200806 http://nanbyodata.jp/ontology/NANDO_1200806 parent H01028 NANDO:1200806 H01028 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルギニノコハク酸尿症 Argininosuccinic aciduria https://identifiers.org/kegg.disease:H01028 H01028 NANDO:1200806 H01028 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルギニノコハク酸分解酵素欠損症 Argininosuccinic aciduria https://identifiers.org/kegg.disease:H01028 H01028 NANDO:1200806 H01028 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルギニノコハク酸尿症 Argininosuccinate lyase deficiency https://identifiers.org/kegg.disease:H01028 H01028 NANDO:1200806 H01028 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルギニノコハク酸分解酵素欠損症 Argininosuccinate lyase deficiency https://identifiers.org/kegg.disease:H01028 NANDO:1200808 http://nanbyodata.jp/ontology/NANDO_1200808 parent H01032 NANDO:1200808 H01032 http://www.geneontology.org/formats/oboInOwl#hasDbXref NAGS欠損症 N-acetylglutamate synthase deficiency https://identifiers.org/kegg.disease:H01032 H01032 NANDO:1200808 H01032 http://www.geneontology.org/formats/oboInOwl#hasDbXref N-アセチルグルタミン酸合成酵素欠損症 N-acetylglutamate synthase deficiency https://identifiers.org/kegg.disease:H01032 NANDO:1200869 http://nanbyodata.jp/ontology/NANDO_1200869 parent H01117 NANDO:1200869 H01117 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性再発性多発性骨髄炎 Chronic recurrent multifocal osteomyelitis https://identifiers.org/kegg.disease:H01117 H01117 NANDO:1200869 H01117 http://www.geneontology.org/formats/oboInOwl#hasDbXref Majeed 症候群 Chronic recurrent multifocal osteomyelitis https://identifiers.org/kegg.disease:H01117 H01117 NANDO:1200869 H01117 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性再発性多発性骨髄炎 Majeed syndrome https://identifiers.org/kegg.disease:H01117 H01117 NANDO:1200869 H01117 http://www.geneontology.org/formats/oboInOwl#hasDbXref Majeed 症候群 Majeed syndrome https://identifiers.org/kegg.disease:H01117 NANDO:1200822 http://nanbyodata.jp/ontology/NANDO_1200822 parent H01182 NANDO:1200822 H01182 http://www.geneontology.org/formats/oboInOwl#hasDbXref ビオチニダーゼ欠損症 Biotinidase deficiency https://identifiers.org/kegg.disease:H01182 H01182 NANDO:1200822 H01182 http://www.geneontology.org/formats/oboInOwl#hasDbXref ビオチニダーゼ欠損症 Late-onset multiple carboxylase deficiency https://identifiers.org/kegg.disease:H01182 H01182 NANDO:1200822 H01182 http://www.geneontology.org/formats/oboInOwl#hasDbXref ビオチニダーゼ欠損症 BTD deficiency https://identifiers.org/kegg.disease:H01182 NANDO:1200810 http://nanbyodata.jp/ontology/NANDO_1200810 parent H01252 NANDO:1200810 H01252 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性葉酸吸収不全 Hereditary folate malabsorption https://identifiers.org/kegg.disease:H01252 NANDO:1200802 http://nanbyodata.jp/ontology/NANDO_1200802 parent H01398 NANDO:1200802 H01398 http://www.geneontology.org/formats/oboInOwl#hasDbXref 尿素サイクル異常症 Primary hyperammonemia (Urea cycle disorders) https://identifiers.org/kegg.disease:H01398 H01398 NANDO:1200802 H01398 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性高アンモニア血症 Primary hyperammonemia (Urea cycle disorders) https://identifiers.org/kegg.disease:H01398 NANDO:1200860 http://nanbyodata.jp/ontology/NANDO_1200860 parent H01474 NANDO:1200860 H01474 http://www.geneontology.org/formats/oboInOwl#hasDbXref 後天性全身性脂肪萎縮症 Acquired generalized lipodystrophy https://identifiers.org/kegg.disease:H01474 H01474 NANDO:1200860 H01474 http://www.geneontology.org/formats/oboInOwl#hasDbXref Lawrence 症候群 Acquired generalized lipodystrophy https://identifiers.org/kegg.disease:H01474 H01474 NANDO:1200860 H01474 http://www.geneontology.org/formats/oboInOwl#hasDbXref 後天性全身性脂肪萎縮症 Lawrence syndrome https://identifiers.org/kegg.disease:H01474 H01474 NANDO:1200860 H01474 http://www.geneontology.org/formats/oboInOwl#hasDbXref Lawrence 症候群 Lawrence syndrome https://identifiers.org/kegg.disease:H01474 NANDO:1200858 http://nanbyodata.jp/ontology/NANDO_1200858 parent H01475 NANDO:1200858 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪異栄養症 Lipodystrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:1200858 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪萎縮症 Lipodystrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:1200858 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref リポジストロフィー Lipodystrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:1200858 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪異栄養症 Lipoatrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:1200858 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪萎縮症 Lipoatrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:1200858 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref リポジストロフィー Lipoatrophy https://identifiers.org/kegg.disease:H01475 NANDO:1200870 http://nanbyodata.jp/ontology/NANDO_1200870 parent H01674 NANDO:1200870 H01674 http://www.geneontology.org/formats/oboInOwl#hasDbXref 強直性脊椎炎 Ankylosing spondylitis https://identifiers.org/kegg.disease:H01674 H01674 NANDO:1200870 H01674 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベヒテレフ病 Ankylosing spondylitis https://identifiers.org/kegg.disease:H01674 H01674 NANDO:1200870 H01674 http://www.geneontology.org/formats/oboInOwl#hasDbXref 強直性脊椎炎 Bechterew disease https://identifiers.org/kegg.disease:H01674 H01674 NANDO:1200870 H01674 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベヒテレフ病 Bechterew disease https://identifiers.org/kegg.disease:H01674 NANDO:1200838 http://nanbyodata.jp/ontology/NANDO_1200838 parent H01760 NANDO:1200838 H01760 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝型糖原病 Hepatic glycogen storage disease https://identifiers.org/kegg.disease:H01760 NANDO:1200823 http://nanbyodata.jp/ontology/NANDO_1200823 parent H01762 NANDO:1200823 H01762 http://www.geneontology.org/formats/oboInOwl#hasDbXref 筋型糖原病 Muscle glycogen storage disease https://identifiers.org/kegg.disease:H01762 NANDO:1200811 http://nanbyodata.jp/ontology/NANDO_1200811 parent H01763 NANDO:1200811 H01763 http://www.geneontology.org/formats/oboInOwl#hasDbXref ポルフィリン症 Porphyria https://identifiers.org/kegg.disease:H01763 NANDO:1200855 http://nanbyodata.jp/ontology/NANDO_1200855 parent H01784 NANDO:1200855 H01784 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性高カイロミクロン血症 Primary hyperchylomicronemia https://identifiers.org/kegg.disease:H01784 NANDO:1200775 http://nanbyodata.jp/ontology/NANDO_1200775 parent H01862 NANDO:1200775 H01862 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副甲状腺機能低下症 Hypoparathyroidism https://identifiers.org/kegg.disease:H01862 NANDO:1200851 http://nanbyodata.jp/ontology/NANDO_1200851 parent H02008 NANDO:1200851 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Classic galactosemia https://identifiers.org/kegg.disease:H02008 H02008 NANDO:1200851 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 古典型ガラクトース血症 Classic galactosemia https://identifiers.org/kegg.disease:H02008 H02008 NANDO:1200851 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトース血症 I 型 Classic galactosemia https://identifiers.org/kegg.disease:H02008 H02008 NANDO:1200851 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Galactose-1P uridylyltransferase deficiency https://identifiers.org/kegg.disease:H02008 H02008 NANDO:1200851 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 古典型ガラクトース血症 Galactose-1P uridylyltransferase deficiency https://identifiers.org/kegg.disease:H02008 H02008 NANDO:1200851 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトース血症 I 型 Galactose-1P uridylyltransferase deficiency https://identifiers.org/kegg.disease:H02008 H02008 NANDO:1200851 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Galactosemia type I https://identifiers.org/kegg.disease:H02008 H02008 NANDO:1200851 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 古典型ガラクトース血症 Galactosemia type I https://identifiers.org/kegg.disease:H02008 H02008 NANDO:1200851 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトース血症 I 型 Galactosemia type I https://identifiers.org/kegg.disease:H02008 NANDO:1200766 http://nanbyodata.jp/ontology/NANDO_1200766 parent H02098 NANDO:1200766 H02098 http://www.geneontology.org/formats/oboInOwl#hasDbXref D-二頭酵素欠損症 D-bifunctional protein deficiency https://identifiers.org/kegg.disease:H02098 H02098 NANDO:1200766 H02098 http://www.geneontology.org/formats/oboInOwl#hasDbXref DBP 欠損症 D-bifunctional protein deficiency https://identifiers.org/kegg.disease:H02098 H02098 NANDO:1200766 H02098 http://www.geneontology.org/formats/oboInOwl#hasDbXref D-二頭酵素欠損症 Bifunctional enzyme deficiency https://identifiers.org/kegg.disease:H02098 H02098 NANDO:1200766 H02098 http://www.geneontology.org/formats/oboInOwl#hasDbXref DBP 欠損症 Bifunctional enzyme deficiency https://identifiers.org/kegg.disease:H02098 H02098 NANDO:1200766 H02098 http://www.geneontology.org/formats/oboInOwl#hasDbXref D-二頭酵素欠損症 DBP deficiency https://identifiers.org/kegg.disease:H02098 H02098 NANDO:1200766 H02098 http://www.geneontology.org/formats/oboInOwl#hasDbXref DBP 欠損症 DBP deficiency https://identifiers.org/kegg.disease:H02098 NANDO:1200768 http://nanbyodata.jp/ontology/NANDO_1200768 parent H02099 NANDO:1200768 H02099 http://www.geneontology.org/formats/oboInOwl#hasDbXref 2-メチルアシルCoAラセマーゼ欠損症 Alpha-methylacyl-CoA racemase deficiency https://identifiers.org/kegg.disease:H02099 H02099 NANDO:1200768 H02099 http://www.geneontology.org/formats/oboInOwl#hasDbXref AMACR 欠損症 Alpha-methylacyl-CoA racemase deficiency https://identifiers.org/kegg.disease:H02099 H02099 NANDO:1200768 H02099 http://www.geneontology.org/formats/oboInOwl#hasDbXref 2-メチルアシルCoAラセマーゼ欠損症 AMACR deficiency https://identifiers.org/kegg.disease:H02099 H02099 NANDO:1200768 H02099 http://www.geneontology.org/formats/oboInOwl#hasDbXref AMACR 欠損症 AMACR deficiency https://identifiers.org/kegg.disease:H02099 NANDO:1200940 http://nanbyodata.jp/ontology/NANDO_1200940 parent H00068 NANDO:1200940 H00068 http://www.geneontology.org/formats/oboInOwl#hasDbXref レーベル遺伝性視神経症 Leber optic atrophy https://identifiers.org/kegg.disease:H00068 H00068 NANDO:1200940 H00068 http://www.geneontology.org/formats/oboInOwl#hasDbXref レーバー遺伝性視神経萎縮症 Leber optic atrophy https://identifiers.org/kegg.disease:H00068 H00068 NANDO:1200940 H00068 http://www.geneontology.org/formats/oboInOwl#hasDbXref レーベル遺伝性視神経症 Leber hereditary optic atrophy https://identifiers.org/kegg.disease:H00068 H00068 NANDO:1200940 H00068 http://www.geneontology.org/formats/oboInOwl#hasDbXref レーバー遺伝性視神経萎縮症 Leber hereditary optic atrophy https://identifiers.org/kegg.disease:H00068 NANDO:1200948 http://nanbyodata.jp/ontology/NANDO_1200948 parent H00074 NANDO:1200948 H00074 http://www.geneontology.org/formats/oboInOwl#hasDbXref カナバン病 Canavan disease https://identifiers.org/kegg.disease:H00074 NANDO:1200922 http://nanbyodata.jp/ontology/NANDO_1200922 parent H00218 NANDO:1200922 H00218 http://www.geneontology.org/formats/oboInOwl#hasDbXref 嚢胞性線維症 Cystic fibrosis https://identifiers.org/kegg.disease:H00218 NANDO:1200890 http://nanbyodata.jp/ontology/NANDO_1200890 parent H00237 NANDO:1200890 H00237 http://www.geneontology.org/formats/oboInOwl#hasDbXref ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia https://identifiers.org/kegg.disease:H00237 NANDO:1200891 http://nanbyodata.jp/ontology/NANDO_1200891 parent H00238 NANDO:1200891 H00238 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファンコニ貧血 Fanconi anemia https://identifiers.org/kegg.disease:H00238 NANDO:1200871 http://nanbyodata.jp/ontology/NANDO_1200871 parent H00430 NANDO:1200871 H00430 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性骨化性線維異形成症 Fibrodysplasia ossificans progressiva https://identifiers.org/kegg.disease:H00430 H00430 NANDO:1200871 H00430 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性骨化線維増殖症 Fibrodysplasia ossificans progressiva https://identifiers.org/kegg.disease:H00430 NANDO:1200935 http://nanbyodata.jp/ontology/NANDO_1200935 parent H00481 NANDO:1200935 H00481 http://www.geneontology.org/formats/oboInOwl#hasDbXref 錐体杆体ジストロフィおよび錐体ジストロフィー Cone-rod dystrophy and cone dystrophy https://identifiers.org/kegg.disease:H00481 NANDO:1200873 http://nanbyodata.jp/ontology/NANDO_1200873 parent H00506 NANDO:1200873 H00506 http://www.geneontology.org/formats/oboInOwl#hasDbXref 骨形成不全症 Osteogenesis imperfecta https://identifiers.org/kegg.disease:H00506 NANDO:1200918 http://nanbyodata.jp/ontology/NANDO_1200918 parent H00551 NANDO:1200918 H00551 http://www.geneontology.org/formats/oboInOwl#hasDbXref アラジール症候群 Alagille syndrome https://identifiers.org/kegg.disease:H00551 NANDO:1200893 http://nanbyodata.jp/ontology/NANDO_1200893 parent H00578 NANDO:1200893 H00578 http://www.geneontology.org/formats/oboInOwl#hasDbXref エプスタイン症候群 Epstein syndrome https://identifiers.org/kegg.disease:H00578 NANDO:1200941 http://nanbyodata.jp/ontology/NANDO_1200941 parent H00779 NANDO:1200941 H00779 http://www.geneontology.org/formats/oboInOwl#hasDbXref アッシャー症候群 Usher syndrome https://identifiers.org/kegg.disease:H00779 NANDO:1200953 http://nanbyodata.jp/ontology/NANDO_1200953 parent H00810 NANDO:1200953 H00810 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性ミオクローヌスてんかん Progressive myoclonic epilepsy https://identifiers.org/kegg.disease:H00810 NANDO:1200932 http://nanbyodata.jp/ontology/NANDO_1200932 parent H00814 NANDO:1200932 H00814 http://www.geneontology.org/formats/oboInOwl#hasDbXref 卵黄状黄斑ジストロフィー Vitelliform macular dystrophy https://identifiers.org/kegg.disease:H00814 NANDO:1200933 http://nanbyodata.jp/ontology/NANDO_1200933 parent H00819 NANDO:1200933 H00819 http://www.geneontology.org/formats/oboInOwl#hasDbXref シュタルガルト病 Stargardt disease https://identifiers.org/kegg.disease:H00819 H00819 NANDO:1200933 H00819 http://www.geneontology.org/formats/oboInOwl#hasDbXref シュタルガルト病 Fundus flavimaculatus https://identifiers.org/kegg.disease:H00819 NANDO:1200951 http://nanbyodata.jp/ontology/NANDO_1200951 parent H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 白質消失病 Vanishing white matter disease https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref Cree 白質脳症 Vanishing white matter disease https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref VWM 型白質脳症 Vanishing white matter disease https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢神経系白質形成不全症を伴う小児失調症 Vanishing white matter disease https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 白質消失病 Leukoencephalopathy with vanishing white matter https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref Cree 白質脳症 Leukoencephalopathy with vanishing white matter https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref VWM 型白質脳症 Leukoencephalopathy with vanishing white matter https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢神経系白質形成不全症を伴う小児失調症 Leukoencephalopathy with vanishing white matter https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 白質消失病 Cree leukoencephalopathy (CLE) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref Cree 白質脳症 Cree leukoencephalopathy (CLE) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref VWM 型白質脳症 Cree leukoencephalopathy (CLE) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢神経系白質形成不全症を伴う小児失調症 Cree leukoencephalopathy (CLE) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 白質消失病 Childhood ataxia with diffuse central nervous system hypomyelination (CACH) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref Cree 白質脳症 Childhood ataxia with diffuse central nervous system hypomyelination (CACH) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref VWM 型白質脳症 Childhood ataxia with diffuse central nervous system hypomyelination (CACH) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:1200951 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢神経系白質形成不全症を伴う小児失調症 Childhood ataxia with diffuse central nervous system hypomyelination (CACH) https://identifiers.org/kegg.disease:H00869 NANDO:1200950 http://nanbyodata.jp/ontology/NANDO_1200950 parent H00875 NANDO:1200950 H00875 http://www.geneontology.org/formats/oboInOwl#hasDbXref 皮質下嚢胞をもつ大頭型白質脳症 Megaloencephalic leukoencephalopathy with subcortical cysts https://identifiers.org/kegg.disease:H00875 NANDO:1200903 http://nanbyodata.jp/ontology/NANDO_1200903 parent H00910 NANDO:1200903 H00910 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヒルシュスプルング病 Hirschsprung disease https://identifiers.org/kegg.disease:H00910 NANDO:1200885 http://nanbyodata.jp/ontology/NANDO_1200885 parent H00917 NANDO:1200885 H00917 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球形成異常性貧血 Congenital dyserythropoietic anemia https://identifiers.org/kegg.disease:H00917 H00917 NANDO:1200885 H00917 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球生成不全性貧血 Congenital dyserythropoietic anemia https://identifiers.org/kegg.disease:H00917 H00917 NANDO:1200885 H00917 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球異形成貧血 Congenital dyserythropoietic anemia https://identifiers.org/kegg.disease:H00917 NANDO:1200921 http://nanbyodata.jp/ontology/NANDO_1200921 parent H00933 NANDO:1200921 H00933 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性膵炎 Hereditary pancreatitis https://identifiers.org/kegg.disease:H00933 H00933 NANDO:1200921 H00933 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性膵炎 Hereditary chronic pancreatitis https://identifiers.org/kegg.disease:H00933 NANDO:1200892 http://nanbyodata.jp/ontology/NANDO_1200892 parent H00982 NANDO:1200892 H00982 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性鉄芽球性貧血 Sideroblastic anemia https://identifiers.org/kegg.disease:H00982 NANDO:1200934 http://nanbyodata.jp/ontology/NANDO_1200934 parent H01010 NANDO:1200934 H01010 http://www.geneontology.org/formats/oboInOwl#hasDbXref オカルト黄斑ジストロフィー Occult macular dystrophy https://identifiers.org/kegg.disease:H01010 NANDO:1200911 http://nanbyodata.jp/ontology/NANDO_1200911 parent H01241 NANDO:1200911 H01241 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性横隔膜ヘルニア Congenital diaphragmatic hernia https://identifiers.org/kegg.disease:H01241 NANDO:1200889 http://nanbyodata.jp/ontology/NANDO_1200889 parent H01586 NANDO:1200889 H01586 http://www.geneontology.org/formats/oboInOwl#hasDbXref 後天性赤芽球癆 Acquired pure red cell aplasia https://identifiers.org/kegg.disease:H01586 NANDO:1200945 http://nanbyodata.jp/ontology/NANDO_1200945 parent H01705 NANDO:1200945 H01705 http://www.geneontology.org/formats/oboInOwl#hasDbXref 若年発症型両側性感音難聴 Bilateral sudden sensorineural hearing loss https://identifiers.org/kegg.disease:H01705 H01705 NANDO:1200945 H01705 http://www.geneontology.org/formats/oboInOwl#hasDbXref 突発性両側性感音難聴 Bilateral sudden sensorineural hearing loss https://identifiers.org/kegg.disease:H01705 NANDO:1200946 http://nanbyodata.jp/ontology/NANDO_1200946 parent H01706 NANDO:1200946 H01706 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遅発性内リンパ水腫 Delayed endolymphatic hydrops https://identifiers.org/kegg.disease:H01706 NANDO:1200877 http://nanbyodata.jp/ontology/NANDO_1200877 parent H01749 NANDO:1200877 H01749 http://www.geneontology.org/formats/oboInOwl#hasDbXref 軟骨無形成症 Achondroplasia https://identifiers.org/kegg.disease:H01749 NANDO:1200874 http://nanbyodata.jp/ontology/NANDO_1200874 parent H01750 NANDO:1200874 H01750 http://www.geneontology.org/formats/oboInOwl#hasDbXref タナトフォリック骨異形成症 Thanatophoric dysplasia https://identifiers.org/kegg.disease:H01750 NANDO:1200897 http://nanbyodata.jp/ontology/NANDO_1200897 parent H01759 NANDO:1200897 H01759 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性出血病 XIII Autoimmune hemorrhaphilia XIII/13 https://identifiers.org/kegg.disease:H01759 H01759 NANDO:1200897 H01759 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性後天性凝固第13因子欠乏症 Autoimmune hemorrhaphilia XIII/13 https://identifiers.org/kegg.disease:H01759 H01759 NANDO:1200897 H01759 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性出血病 XIII Autoimmune acquired factor XIII (F13) deficiency https://identifiers.org/kegg.disease:H01759 H01759 NANDO:1200897 H01759 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性後天性凝固第13因子欠乏症 Autoimmune acquired factor XIII (F13) deficiency https://identifiers.org/kegg.disease:H01759 NANDO:1200947 http://nanbyodata.jp/ontology/NANDO_1200947 parent H01765 NANDO:1200947 H01765 http://www.geneontology.org/formats/oboInOwl#hasDbXref 好酸球性副鼻腔炎 Eosinophilic sinusitis https://identifiers.org/kegg.disease:H01765 H01765 NANDO:1200947 H01765 http://www.geneontology.org/formats/oboInOwl#hasDbXref 好酸球性副鼻腔炎 Eosinophilic chronic rhinosinusitis https://identifiers.org/kegg.disease:H01765 NANDO:1200939 http://nanbyodata.jp/ontology/NANDO_1200939 parent H01768 NANDO:1200939 H01768 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中心性輪紋状脈絡膜ジストロフィー Central areolar choroidal dystrophy https://identifiers.org/kegg.disease:H01768 NANDO:1200931 http://nanbyodata.jp/ontology/NANDO_1200931 parent H01770 NANDO:1200931 H01770 http://www.geneontology.org/formats/oboInOwl#hasDbXref 黄斑ジストロフィー Macular dystrophy https://identifiers.org/kegg.disease:H01770 NANDO:1200884 http://nanbyodata.jp/ontology/NANDO_1200884 parent H01788 NANDO:1200884 H01788 http://www.geneontology.org/formats/oboInOwl#hasDbXref クリッペル・トレノネー・ウェーバー症候群 Klippel-Trenaunay-Weber syndrome https://identifiers.org/kegg.disease:H01788 NANDO:1200872 http://nanbyodata.jp/ontology/NANDO_1200872 parent H01851 NANDO:1200872 H01851 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肋骨異常を伴う先天性側弯症 Congenital scoliosis associated with rib anomalies https://identifiers.org/kegg.disease:H01851 NANDO:1200902 http://nanbyodata.jp/ontology/NANDO_1200902 parent H01853 NANDO:1200902 H01853 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非特異性多発性小腸潰瘍症 Chronic nonspecific multiple ulcers of the small intestine https://identifiers.org/kegg.disease:H01853 NANDO:1200913 http://nanbyodata.jp/ontology/NANDO_1200913 parent H01855 NANDO:1200913 H01855 http://www.geneontology.org/formats/oboInOwl#hasDbXref 胆道閉鎖症 Biliary atresia https://identifiers.org/kegg.disease:H01855 NANDO:1200909 http://nanbyodata.jp/ontology/NANDO_1200909 parent H01856 NANDO:1200909 H01856 http://www.geneontology.org/formats/oboInOwl#hasDbXref 総排泄腔外反症 Cloacal exstrophy https://identifiers.org/kegg.disease:H01856 H01856 NANDO:1200909 H01856 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膀胱腸裂 Cloacal exstrophy https://identifiers.org/kegg.disease:H01856 H01856 NANDO:1200909 H01856 http://www.geneontology.org/formats/oboInOwl#hasDbXref 総排泄腔外反症 Vesicointestinal fissure https://identifiers.org/kegg.disease:H01856 H01856 NANDO:1200909 H01856 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膀胱腸裂 Vesicointestinal fissure https://identifiers.org/kegg.disease:H01856 NANDO:1200910 http://nanbyodata.jp/ontology/NANDO_1200910 parent H01858 NANDO:1200910 H01858 http://www.geneontology.org/formats/oboInOwl#hasDbXref 総排泄腔遺残 Persistent cloaca https://identifiers.org/kegg.disease:H01858 NANDO:1200901 http://nanbyodata.jp/ontology/NANDO_1200901 parent H01874 NANDO:1200901 H01874 http://www.geneontology.org/formats/oboInOwl#hasDbXref クロンカイト・カナダ症候群 Cronkhite-Canada syndrome https://identifiers.org/kegg.disease:H01874 NANDO:1200955 http://nanbyodata.jp/ontology/NANDO_1200955 parent H01994 NANDO:1200955 H01994 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラフォラ病 Lafora disease https://identifiers.org/kegg.disease:H01994 NANDO:1200954 http://nanbyodata.jp/ontology/NANDO_1200954 parent H01995 NANDO:1200954 H01995 http://www.geneontology.org/formats/oboInOwl#hasDbXref Unverricht-Lundborg 病 Unverricht-Lundborg disease https://identifiers.org/kegg.disease:H01995 H01995 NANDO:1200954 H01995 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性ミオクローヌスてんかん 1 型 Unverricht-Lundborg disease https://identifiers.org/kegg.disease:H01995 H01995 NANDO:1200954 H01995 http://www.geneontology.org/formats/oboInOwl#hasDbXref Unverricht-Lundborg 病 Epilepsy, progressive myoclonic 1 https://identifiers.org/kegg.disease:H01995 H01995 NANDO:1200954 H01995 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性ミオクローヌスてんかん 1 型 Epilepsy, progressive myoclonic 1 https://identifiers.org/kegg.disease:H01995 NANDO:1200952 http://nanbyodata.jp/ontology/NANDO_1200952 parent H02200 NANDO:1200952 H02200 http://www.geneontology.org/formats/oboInOwl#hasDbXref 卵巣機能障害を伴う進行性白質脳症 Leukoencephalopathy, progressive, with ovarian failure https://identifiers.org/kegg.disease:H02200 H02200 NANDO:1200952 H02200 http://www.geneontology.org/formats/oboInOwl#hasDbXref 卵巣白質ジストロフィー Leukoencephalopathy, progressive, with ovarian failure https://identifiers.org/kegg.disease:H02200 H02200 NANDO:1200952 H02200 http://www.geneontology.org/formats/oboInOwl#hasDbXref 卵巣機能障害を伴う進行性白質脳症 Ovarioleukodystrophy https://identifiers.org/kegg.disease:H02200 H02200 NANDO:1200952 H02200 http://www.geneontology.org/formats/oboInOwl#hasDbXref 卵巣白質ジストロフィー Ovarioleukodystrophy https://identifiers.org/kegg.disease:H02200 NANDO:1200956 http://nanbyodata.jp/ontology/NANDO_1200956 parent H02213 NANDO:1200956 H02213 http://www.geneontology.org/formats/oboInOwl#hasDbXref 良性成人型家族性ミオクローヌスてんかん Familial adult myoclonic epilepsy https://identifiers.org/kegg.disease:H02213 H02213 NANDO:1200956 H02213 http://www.geneontology.org/formats/oboInOwl#hasDbXref 良性成人型家族性ミオクローヌスてんかん Benign adult familial myoclonic epilepsy https://identifiers.org/kegg.disease:H02213 NANDO:1200949 http://nanbyodata.jp/ontology/NANDO_1200949 parent H02598 NANDO:1200949 H02598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性白質脳症 Progressive leukoencephalopathy https://identifiers.org/kegg.disease:H02598 NANDO:1200963 http://nanbyodata.jp/ontology/NANDO_1200963 parent H02603 NANDO:1200963 H02603 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性僧帽弁狭窄症 Congenital mitral valve stenosis https://identifiers.org/kegg.disease:H02603 NANDO:1200961 http://nanbyodata.jp/ontology/NANDO_1200961 parent H00161 NANDO:1200961 H00161 http://www.geneontology.org/formats/oboInOwl#hasDbXref スミス・レムリ・オピッツ症候群 Smith-Lemli-Opitz syndrome https://identifiers.org/kegg.disease:H00161 NANDO:1200967 http://nanbyodata.jp/ontology/NANDO_1200967 parent H00464 NANDO:1200967 H00464 http://www.geneontology.org/formats/oboInOwl#hasDbXref 爪膝蓋骨症候群 Nail-patella syndrome https://identifiers.org/kegg.disease:H00464 NANDO:1200960 http://nanbyodata.jp/ontology/NANDO_1200960 parent H00631 NANDO:1200960 H00631 http://www.geneontology.org/formats/oboInOwl#hasDbXref コルネリア・デランゲ症候群 Cornelia de Lange syndrome https://identifiers.org/kegg.disease:H00631 NANDO:1200959 http://nanbyodata.jp/ontology/NANDO_1200959 parent H00907 NANDO:1200959 H00907 http://www.geneontology.org/formats/oboInOwl#hasDbXref 9qサブテロメリア欠失症候群 Kleefstra syndrome https://identifiers.org/kegg.disease:H00907 H00907 NANDO:1200959 H00907 http://www.geneontology.org/formats/oboInOwl#hasDbXref 9q34欠失症候群 Chromosome 9q34.3 deletion syndrome https://identifiers.org/kegg.disease:H00907 H00907 NANDO:1200959 H00907 http://www.geneontology.org/formats/oboInOwl#hasDbXref 9qサブテロメリア欠失症候群 9q Subtelomeric deletion syndrome https://identifiers.org/kegg.disease:H00907 H00907 NANDO:1200959 H00907 http://www.geneontology.org/formats/oboInOwl#hasDbXref Kleefstra 症候群 Chromosome 9q34.3 deletion syndrome https://identifiers.org/kegg.disease:H00907 H00907 NANDO:1200959 H00907 http://www.geneontology.org/formats/oboInOwl#hasDbXref 9q34欠失症候群 9q Subtelomeric deletion syndrome https://identifiers.org/kegg.disease:H00907 H00907 NANDO:1200959 H00907 http://www.geneontology.org/formats/oboInOwl#hasDbXref 9q34欠失症候群 Kleefstra syndrome https://identifiers.org/kegg.disease:H00907 H00907 NANDO:1200959 H00907 http://www.geneontology.org/formats/oboInOwl#hasDbXref Kleefstra 症候群 9q Subtelomeric deletion syndrome https://identifiers.org/kegg.disease:H00907 H00907 NANDO:1200959 H00907 http://www.geneontology.org/formats/oboInOwl#hasDbXref Kleefstra 症候群 Kleefstra syndrome https://identifiers.org/kegg.disease:H00907 H00907 NANDO:1200959 H00907 http://www.geneontology.org/formats/oboInOwl#hasDbXref 9qサブテロメリア欠失症候群 Chromosome 9q34.3 deletion syndrome https://identifiers.org/kegg.disease:H00907 NANDO:1200970 http://nanbyodata.jp/ontology/NANDO_1200970 parent H01981 NANDO:1200970 H01981 http://www.geneontology.org/formats/oboInOwl#hasDbXref カルニチンパルミトイルトランスフェラーゼ I 欠損症 Carnitine palmitoyltransferase I deficiency https://identifiers.org/kegg.disease:H01981 NANDO:1200971 http://nanbyodata.jp/ontology/NANDO_1200971 parent H01982 NANDO:1200971 H01982 http://www.geneontology.org/formats/oboInOwl#hasDbXref カルニチンパルミトイルトランスフェラーゼ II 欠損症 Carnitine palmitoyltransferase II deficiency https://identifiers.org/kegg.disease:H01982 NANDO:1200969 http://nanbyodata.jp/ontology/NANDO_1200969 parent H02596 NANDO:1200969 H02596 http://www.geneontology.org/formats/oboInOwl#hasDbXref カルニチン回路異常症 Disorders of carnitine transport and the carnitine cycle https://identifiers.org/kegg.disease:H02596 NANDO:1200965 http://nanbyodata.jp/ontology/NANDO_1200965 parent H02601 NANDO:1200965 H02601 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺動脈スリング Vascular sling https://identifiers.org/kegg.disease:H02601 H02601 NANDO:1200965 H02601 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺動脈スリング Pulmonary arterial sling https://identifiers.org/kegg.disease:H02601 H02601 NANDO:1200965 H02601 http://www.geneontology.org/formats/oboInOwl#hasDbXref 左肺動脈右肺動脈起始症 Vascular sling https://identifiers.org/kegg.disease:H02601 H02601 NANDO:1200965 H02601 http://www.geneontology.org/formats/oboInOwl#hasDbXref 左肺動脈右肺動脈起始症 Pulmonary arterial sling https://identifiers.org/kegg.disease:H02601 NANDO:1200962 http://nanbyodata.jp/ontology/NANDO_1200962 parent H02602 NANDO:1200962 H02602 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性三尖弁狭窄症 Congenital tricuspid valve stenosis https://identifiers.org/kegg.disease:H02602 NANDO:1200964 http://nanbyodata.jp/ontology/NANDO_1200964 parent H02605 NANDO:1200964 H02605 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性肺静脈狭窄症 Congenital pulmonary venous stenosis https://identifiers.org/kegg.disease:H02605 NANDO:1201038 http://nanbyodata.jp/ontology/NANDO_1201038 parent H00183 NANDO:1201038 H00183 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホモシスチン尿症 Homocystinuria https://identifiers.org/kegg.disease:H00183 NANDO:1200984 http://nanbyodata.jp/ontology/NANDO_1200984 parent H00191 NANDO:1200984 H00191 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非ケトーシス型高グリシン血症 Nonketotic hyperglycinemia https://identifiers.org/kegg.disease:H00191 H00191 NANDO:1200984 H00191 http://www.geneontology.org/formats/oboInOwl#hasDbXref グリシン脳症 Nonketotic hyperglycinemia https://identifiers.org/kegg.disease:H00191 H00191 NANDO:1200984 H00191 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非ケトーシス型高グリシン血症 Glycine encephalopathy (GCE) https://identifiers.org/kegg.disease:H00191 H00191 NANDO:1200984 H00191 http://www.geneontology.org/formats/oboInOwl#hasDbXref グリシン脳症 Glycine encephalopathy (GCE) https://identifiers.org/kegg.disease:H00191 NANDO:2100035 http://nanbyodata.jp/ontology/NANDO_2100035 parent H00218 NANDO:2100035 H00218 http://www.geneontology.org/formats/oboInOwl#hasDbXref 嚢胞性線維症 Cystic fibrosis https://identifiers.org/kegg.disease:H00218 NANDO:2100021 http://nanbyodata.jp/ontology/NANDO_2100021 parent H00239 NANDO:2100021 H00239 http://www.geneontology.org/formats/oboInOwl#hasDbXref バーター症候群 Bartter syndrome https://identifiers.org/kegg.disease:H00239 NANDO:2100020 http://nanbyodata.jp/ontology/NANDO_2100020 parent H00240 NANDO:2100020 H00240 http://www.geneontology.org/formats/oboInOwl#hasDbXref ギテルマン症候群 Gitelman syndrome https://identifiers.org/kegg.disease:H00240 NANDO:1201079 http://nanbyodata.jp/ontology/NANDO_1201079 parent H00270 NANDO:1201079 H00270 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳室周囲結節性異所性灰白質 Periventricular nodular heterotopia https://identifiers.org/kegg.disease:H00270 NANDO:1201071 http://nanbyodata.jp/ontology/NANDO_1201071 parent H00271 NANDO:1201071 H00271 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多小脳回 Polymicrogyria https://identifiers.org/kegg.disease:H00271 NANDO:1200996 http://nanbyodata.jp/ontology/NANDO_1200996 parent H00290 NANDO:1200996 H00290 http://www.geneontology.org/formats/oboInOwl#hasDbXref エカルディ・グティエール症候群 Aicardi-Goutieres syndrome https://identifiers.org/kegg.disease:H00290 NANDO:2100054 http://nanbyodata.jp/ontology/NANDO_2100054 parent H00292 NANDO:2100054 H00292 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肥大型心筋症 Hypertrophic cardiomyopathy https://identifiers.org/kegg.disease:H00292 NANDO:2100055 http://nanbyodata.jp/ontology/NANDO_2100055 parent H00293 NANDO:2100055 H00293 http://www.geneontology.org/formats/oboInOwl#hasDbXref 不整脈源性右室心筋症 Arrhythmogenic right ventricular cardiomyopathy https://identifiers.org/kegg.disease:H00293 NANDO:2100057 http://nanbyodata.jp/ontology/NANDO_2100057 parent H00294 NANDO:2100057 H00294 http://www.geneontology.org/formats/oboInOwl#hasDbXref 拡張型心筋症 Dilated cardiomyopathy https://identifiers.org/kegg.disease:H00294 NANDO:1200998 http://nanbyodata.jp/ontology/NANDO_1200998 parent H00436 NANDO:1200998 H00436 http://www.geneontology.org/formats/oboInOwl#hasDbXref 大理石骨病 Osteopetrosis https://identifiers.org/kegg.disease:H00436 NANDO:1201051 http://nanbyodata.jp/ontology/NANDO_1201051 parent H00454 NANDO:1201051 H00454 http://www.geneontology.org/formats/oboInOwl#hasDbXref Oral-facial-digital 症候群 Oral-facial-digital syndrome https://identifiers.org/kegg.disease:H00454 NANDO:1201102 http://nanbyodata.jp/ontology/NANDO_1201102 parent H00522 NANDO:1201102 H00522 http://www.geneontology.org/formats/oboInOwl#hasDbXref 短体幹症 Brachyolmia https://identifiers.org/kegg.disease:H00522 NANDO:1201036 http://nanbyodata.jp/ontology/NANDO_1201036 parent H00537 NANDO:1201036 H00537 http://www.geneontology.org/formats/oboInOwl#hasDbXref ネフロン癆 Nephronophthisis https://identifiers.org/kegg.disease:H00537 NANDO:2100015 http://nanbyodata.jp/ontology/NANDO_2100015 parent H00537 NANDO:2100015 H00537 http://www.geneontology.org/formats/oboInOwl#hasDbXref ネフロン癆 Nephronophthisis https://identifiers.org/kegg.disease:H00537 NANDO:1201049 http://nanbyodata.jp/ontology/NANDO_1201049 parent H00538 NANDO:1201049 H00538 http://www.geneontology.org/formats/oboInOwl#hasDbXref Senior-Loken 症候群 Senior-Loken syndrome https://identifiers.org/kegg.disease:H00538 NANDO:2100085 http://nanbyodata.jp/ontology/NANDO_2100085 parent H00546 NANDO:2100085 H00546 http://www.geneontology.org/formats/oboInOwl#hasDbXref 心房中隔欠損 Atrial septal defect https://identifiers.org/kegg.disease:H00546 NANDO:2100075 http://nanbyodata.jp/ontology/NANDO_2100075 parent H00549 NANDO:2100075 H00549 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファロー四徴症 Tetralogy of Fallot https://identifiers.org/kegg.disease:H00549 NANDO:2100078 http://nanbyodata.jp/ontology/NANDO_2100078 parent H00550 NANDO:2100078 H00550 http://www.geneontology.org/formats/oboInOwl#hasDbXref 完全大血管転位症 Complete transposition of the great arteries https://identifiers.org/kegg.disease:H00550 NANDO:1201007 http://nanbyodata.jp/ontology/NANDO_1201007 parent H00601 NANDO:1201007 H00601 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハッチンソン・ギルフォード症候群 Hutchinson-Gilford progeria syndrome https://identifiers.org/kegg.disease:H00601 NANDO:1201042 http://nanbyodata.jp/ontology/NANDO_1201042 parent H00624 NANDO:1201042 H00624 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性家族性肝内胆汁うっ滞症 Progressive familial intrahepatic cholestasis https://identifiers.org/kegg.disease:H00624 NANDO:1201001 http://nanbyodata.jp/ontology/NANDO_1201001 parent H00635 NANDO:1201001 H00635 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無虹彩症 Aniridia https://identifiers.org/kegg.disease:H00635 NANDO:2100028 http://nanbyodata.jp/ontology/NANDO_2100028 parent H00692 NANDO:2100028 H00692 http://www.geneontology.org/formats/oboInOwl#hasDbXref ロウ症候群 Lowe syndrome https://identifiers.org/kegg.disease:H00692 H00692 NANDO:2100028 H00692 http://www.geneontology.org/formats/oboInOwl#hasDbXref ロウ症候群 Oculocerebrorenal Dystrophy (OCRL) https://identifiers.org/kegg.disease:H00692 NANDO:2100053 http://nanbyodata.jp/ontology/NANDO_2100053 parent H00720 NANDO:2100053 H00720 http://www.geneontology.org/formats/oboInOwl#hasDbXref QT 延長症候群 Long QT syndrome https://identifiers.org/kegg.disease:H00720 NANDO:2100043 http://nanbyodata.jp/ontology/NANDO_2100043 parent H00729 NANDO:2100043 H00729 http://www.geneontology.org/formats/oboInOwl#hasDbXref 洞不全症候群 Sick sinus syndrome https://identifiers.org/kegg.disease:H00729 H00729 NANDO:2100043 H00729 http://www.geneontology.org/formats/oboInOwl#hasDbXref 洞不全症候群 Sinus node dysfunction https://identifiers.org/kegg.disease:H00729 NANDO:2100051 http://nanbyodata.jp/ontology/NANDO_2100051 parent H00731 NANDO:2100051 H00731 http://www.geneontology.org/formats/oboInOwl#hasDbXref 心房細動 Atrial fibrillation https://identifiers.org/kegg.disease:H00731 NANDO:1200989 http://nanbyodata.jp/ontology/NANDO_1200989 parent H00754 NANDO:1200989 H00754 http://www.geneontology.org/formats/oboInOwl#hasDbXref メチルグルタコン酸尿症 3-Methylglutaconic aciduria https://identifiers.org/kegg.disease:H00754 NANDO:1201034 http://nanbyodata.jp/ontology/NANDO_1201034 parent H00834 NANDO:1201034 H00834 http://www.geneontology.org/formats/oboInOwl#hasDbXref グアニジノ酢酸メチルトランスフェラーゼ欠損症 Guanidinoacetate methyltransferase deficiency https://identifiers.org/kegg.disease:H00834 NANDO:1201074 http://nanbyodata.jp/ontology/NANDO_1201074 parent H00839 NANDO:1201074 H00839 http://www.geneontology.org/formats/oboInOwl#hasDbXref 孔脳症 Porencephaly https://identifiers.org/kegg.disease:H00839 NANDO:1201032 http://nanbyodata.jp/ontology/NANDO_1201032 parent H00849 NANDO:1201032 H00849 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳クレアチン欠乏症候群 Cerebral creatine deficiency syndrome https://identifiers.org/kegg.disease:H00849 NANDO:2100036 http://nanbyodata.jp/ontology/NANDO_2100036 parent H00892 NANDO:2100036 H00892 http://www.geneontology.org/formats/oboInOwl#hasDbXref 気管支拡張症 Bronchiectasis with or without elevated sweat chloride https://identifiers.org/kegg.disease:H00892 NANDO:2100032 http://nanbyodata.jp/ontology/NANDO_2100032 parent H00916 NANDO:2100032 H00916 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性中枢性低換気症候群 Congenital central hypoventilation syndrome https://identifiers.org/kegg.disease:H00916 NANDO:2100076 http://nanbyodata.jp/ontology/NANDO_2100076 parent H00918 NANDO:2100076 H00918 http://www.geneontology.org/formats/oboInOwl#hasDbXref 両大血管右室起始症 Double-outlet right ventricle https://identifiers.org/kegg.disease:H00918 NANDO:1201006 http://nanbyodata.jp/ontology/NANDO_1201006 parent H00953 NANDO:1201006 H00953 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膠様滴状角膜ジストロフィー Gelatinous drop-like corneal dystrophy https://identifiers.org/kegg.disease:H00953 H00953 NANDO:1201006 H00953 http://www.geneontology.org/formats/oboInOwl#hasDbXref 角膜アミロイド症 Gelatinous drop-like corneal dystrophy https://identifiers.org/kegg.disease:H00953 H00953 NANDO:1201006 H00953 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膠様滴状角膜ジストロフィー Corneal amyloidosis https://identifiers.org/kegg.disease:H00953 H00953 NANDO:1201006 H00953 http://www.geneontology.org/formats/oboInOwl#hasDbXref 角膜アミロイド症 Corneal amyloidosis https://identifiers.org/kegg.disease:H00953 NANDO:1201058 http://nanbyodata.jp/ontology/NANDO_1201058 parent H00965 NANDO:1201058 H00965 http://www.geneontology.org/formats/oboInOwl#hasDbXref RAPADILINO 症候群 RAPADILINO syndrome https://identifiers.org/kegg.disease:H00965 NANDO:1201050 http://nanbyodata.jp/ontology/NANDO_1201050 parent H01001 NANDO:1201050 H01001 http://www.geneontology.org/formats/oboInOwl#hasDbXref COACH 症候群 COACH syndrome https://identifiers.org/kegg.disease:H01001 NANDO:1200987 http://nanbyodata.jp/ontology/NANDO_1200987 parent H01076 NANDO:1200987 H01076 http://www.geneontology.org/formats/oboInOwl#hasDbXref β-ケトチオラーゼ欠損症 Beta-ketothiolase deficiency https://identifiers.org/kegg.disease:H01076 H01076 NANDO:1200987 H01076 http://www.geneontology.org/formats/oboInOwl#hasDbXref α-メチルアセト酢酸尿症 Beta-ketothiolase deficiency https://identifiers.org/kegg.disease:H01076 H01076 NANDO:1200987 H01076 http://www.geneontology.org/formats/oboInOwl#hasDbXref β-ケトチオラーゼ欠損症 Alpha-methylacetoacetic aciduria https://identifiers.org/kegg.disease:H01076 H01076 NANDO:1200987 H01076 http://www.geneontology.org/formats/oboInOwl#hasDbXref α-メチルアセト酢酸尿症 Alpha-methylacetoacetic aciduria https://identifiers.org/kegg.disease:H01076 NANDO:1201000 http://nanbyodata.jp/ontology/NANDO_1201000 parent H01159 NANDO:1201000 H01159 http://www.geneontology.org/formats/oboInOwl#hasDbXref 前眼部形成異常 Anterior segment dysgenesis https://identifiers.org/kegg.disease:H01159 NANDO:1201073 http://nanbyodata.jp/ontology/NANDO_1201073 parent H01160 NANDO:1201073 H01160 http://www.geneontology.org/formats/oboInOwl#hasDbXref 裂脳症 Schizencephaly https://identifiers.org/kegg.disease:H01160 NANDO:1200988 http://nanbyodata.jp/ontology/NANDO_1200988 parent H01161 NANDO:1200988 H01161 http://www.geneontology.org/formats/oboInOwl#hasDbXref AADC欠損症 Aromatic L-amino acid decarboxylase deficiency https://identifiers.org/kegg.disease:H01161 H01161 NANDO:1200988 H01161 http://www.geneontology.org/formats/oboInOwl#hasDbXref 芳香族 L- アミノ酸脱炭酸酵素欠損症 Aromatic L-amino acid decarboxylase deficiency https://identifiers.org/kegg.disease:H01161 NANDO:2100058 http://nanbyodata.jp/ontology/NANDO_2100058 parent H01219 NANDO:2100058 H01219 http://www.geneontology.org/formats/oboInOwl#hasDbXref 拘束性心筋症 Restrictive cardiomyopathy https://identifiers.org/kegg.disease:H01219 NANDO:2100040 http://nanbyodata.jp/ontology/NANDO_2100040 parent H01241 NANDO:2100040 H01241 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性横隔膜ヘルニア Congenital diaphragmatic hernia https://identifiers.org/kegg.disease:H01241 NANDO:2100071 http://nanbyodata.jp/ontology/NANDO_2100071 parent H01272 NANDO:2100071 H01272 http://www.geneontology.org/formats/oboInOwl#hasDbXref 左心低形成症候群 Hypoplastic left heart syndrome https://identifiers.org/kegg.disease:H01272 NANDO:1200974 http://nanbyodata.jp/ontology/NANDO_1200974 parent H01352 NANDO:1200974 H01352 http://www.geneontology.org/formats/oboInOwl#hasDbXref 三頭酵素欠損症 Mitochondrial trifunctional protein deficiency https://identifiers.org/kegg.disease:H01352 NANDO:1201064 http://nanbyodata.jp/ontology/NANDO_1201064 parent H01355 NANDO:1201064 H01355 http://www.geneontology.org/formats/oboInOwl#hasDbXref カーンズ・セイアー症候群 Kearns-Sayre syndrome https://identifiers.org/kegg.disease:H01355 NANDO:2100003 http://nanbyodata.jp/ontology/NANDO_2100003 parent H01481 NANDO:2100003 H01481 http://www.geneontology.org/formats/oboInOwl#hasDbXref 骨髄異形成症候群 Myelodysplastic syndrome https://identifiers.org/kegg.disease:H01481 NANDO:1200973 http://nanbyodata.jp/ontology/NANDO_1200973 parent H01589 NANDO:1200973 H01589 http://www.geneontology.org/formats/oboInOwl#hasDbXref 全身性カルニチン欠乏症 Systemic primary carnitine deficiency https://identifiers.org/kegg.disease:H01589 NANDO:2100103 http://nanbyodata.jp/ontology/NANDO_2100103 parent H01621 NANDO:2100103 H01621 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺動脈性肺高血圧症 Pulmonary arterial hypertension https://identifiers.org/kegg.disease:H01621 NANDO:2100084 http://nanbyodata.jp/ontology/NANDO_2100084 parent H01630 NANDO:2100084 H01630 http://www.geneontology.org/formats/oboInOwl#hasDbXref 動脈管開存症 Patent ductus arteriosus https://identifiers.org/kegg.disease:H01630 NANDO:2100009 http://nanbyodata.jp/ontology/NANDO_2100009 parent H01657 NANDO:2100009 H01657 http://www.geneontology.org/formats/oboInOwl#hasDbXref ネフローゼ症候群 Nephrotic syndrome https://identifiers.org/kegg.disease:H01657 NANDO:2100081 http://nanbyodata.jp/ontology/NANDO_2100081 parent H01736 NANDO:2100081 H01736 http://www.geneontology.org/formats/oboInOwl#hasDbXref 総動脈幹遺残症 Persistent truncus arteriosus https://identifiers.org/kegg.disease:H01736 NANDO:2100080 http://nanbyodata.jp/ontology/NANDO_2100080 parent H01783 NANDO:2100080 H01783 http://www.geneontology.org/formats/oboInOwl#hasDbXref エプスタイン病 Ebstein anomaly https://identifiers.org/kegg.disease:H01783 NANDO:2100073 http://nanbyodata.jp/ontology/NANDO_2100073 parent H01785 NANDO:2100073 H01785 http://www.geneontology.org/formats/oboInOwl#hasDbXref 三尖弁閉鎖症 Tricuspid atresia https://identifiers.org/kegg.disease:H01785 NANDO:2100072 http://nanbyodata.jp/ontology/NANDO_2100072 parent H01787 NANDO:2100072 H01787 http://www.geneontology.org/formats/oboInOwl#hasDbXref 単心室症 Univentricular heart https://identifiers.org/kegg.disease:H01787 NANDO:2100039 http://nanbyodata.jp/ontology/NANDO_2100039 parent H01873 NANDO:2100039 H01873 http://www.geneontology.org/formats/oboInOwl#hasDbXref 閉塞性細気管支炎 Bronchiolitis obliterans https://identifiers.org/kegg.disease:H01873 H01873 NANDO:2100039 H01873 http://www.geneontology.org/formats/oboInOwl#hasDbXref 閉塞性細気管支炎 Obliterative bronchiolitis https://identifiers.org/kegg.disease:H01873 NANDO:1201087 http://nanbyodata.jp/ontology/NANDO_1201087 parent H01902 NANDO:1201087 H01902 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脆弱角膜症候群 Brittle cornea syndrome https://identifiers.org/kegg.disease:H01902 NANDO:2100087 http://nanbyodata.jp/ontology/NANDO_2100087 parent H01926 NANDO:2100087 H01926 http://www.geneontology.org/formats/oboInOwl#hasDbXref 心室中隔欠損症 Ventricular septal defect https://identifiers.org/kegg.disease:H01926 NANDO:1200972 http://nanbyodata.jp/ontology/NANDO_1200972 parent H01983 NANDO:1200972 H01983 http://www.geneontology.org/formats/oboInOwl#hasDbXref カルニチン-アシルカルニチントランスロカーゼ欠損症 Carnitine-acylcarnitine translocase deficiency https://identifiers.org/kegg.disease:H01983 NANDO:1201059 http://nanbyodata.jp/ontology/NANDO_1201059 parent H01993 NANDO:1201059 H01993 http://www.geneontology.org/formats/oboInOwl#hasDbXref バラー・ゲロルト症候群 Baller-Gerold syndrome https://identifiers.org/kegg.disease:H01993 NANDO:2100014 http://nanbyodata.jp/ontology/NANDO_2100014 parent H02011 NANDO:2100014 H02011 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性若年性高尿酸血症性腎症 Familial juvenile hyperuricemic nephropathy https://identifiers.org/kegg.disease:H02011 NANDO:1201103 http://nanbyodata.jp/ontology/NANDO_1201103 parent H02062 NANDO:1201103 H02062 http://www.geneontology.org/formats/oboInOwl#hasDbXref 短指を伴う家族性指関節症 Familial digital arthropathy-brachydactyly https://identifiers.org/kegg.disease:H02062 NANDO:1201099 http://nanbyodata.jp/ontology/NANDO_1201099 parent H02184 NANDO:1201099 H02184 http://www.geneontology.org/formats/oboInOwl#hasDbXref 変容性骨異形成症 Metatropic dysplasia https://identifiers.org/kegg.disease:H02184 NANDO:2100019 http://nanbyodata.jp/ontology/NANDO_2100019 parent H02310 NANDO:2100019 H02310 http://www.geneontology.org/formats/oboInOwl#hasDbXref 尿細管性アシドーシス Renal tubular acidosis https://identifiers.org/kegg.disease:H02310 NANDO:1200982 http://nanbyodata.jp/ontology/NANDO_1200982 parent H02597 NANDO:1200982 H02597 http://www.geneontology.org/formats/oboInOwl#hasDbXref セピアプテリン還元酵素 (SR) 欠損症 Sepiapterin reductase deficiency https://identifiers.org/kegg.disease:H02597 NANDO:1200993 http://nanbyodata.jp/ontology/NANDO_1200993 parent H02599 NANDO:1200993 H02599 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性自己炎症疾患 Inherited autoinflammatory disease https://identifiers.org/kegg.disease:H02599 NANDO:1201003 http://nanbyodata.jp/ontology/NANDO_1201003 parent H02600 NANDO:1201003 H02600 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性気管狭窄症 Congenital tracheal stenosis https://identifiers.org/kegg.disease:H02600 NANDO:2200003 http://nanbyodata.jp/ontology/NANDO_2200003 parent H00002 NANDO:2200003 H00002 http://www.geneontology.org/formats/oboInOwl#hasDbXref T細胞急性リンパ性白血病 T-cell acute lymphoblastic leukemia https://identifiers.org/kegg.disease:H00002 H00002 NANDO:2200003 H00002 http://www.geneontology.org/formats/oboInOwl#hasDbXref T細胞リンパ芽球性白血病 T-cell acute lymphoblastic leukemia https://identifiers.org/kegg.disease:H00002 H00002 NANDO:2200003 H00002 http://www.geneontology.org/formats/oboInOwl#hasDbXref T細胞急性リンパ性白血病 T-cell acute lymphocytic leukemia https://identifiers.org/kegg.disease:H00002 H00002 NANDO:2200003 H00002 http://www.geneontology.org/formats/oboInOwl#hasDbXref T細胞リンパ芽球性白血病 T-cell acute lymphocytic leukemia https://identifiers.org/kegg.disease:H00002 NANDO:2200013 http://nanbyodata.jp/ontology/NANDO_2200013 parent H00004 NANDO:2200013 H00004 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性骨髄性白血病 Chronic myeloid leukemia https://identifiers.org/kegg.disease:H00004 NANDO:2200024 http://nanbyodata.jp/ontology/NANDO_2200024 parent H00007 NANDO:2200024 H00007 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホジキンリンパ腫 Hodgkin lymphoma https://identifiers.org/kegg.disease:H00007 NANDO:2200045 http://nanbyodata.jp/ontology/NANDO_2200045 parent H00021 NANDO:2200045 H00021 http://www.geneontology.org/formats/oboInOwl#hasDbXref 腎細胞癌 Renal cell carcinoma https://identifiers.org/kegg.disease:H00021 NANDO:2200053 http://nanbyodata.jp/ontology/NANDO_2200053 parent H00035 NANDO:2200053 H00035 http://www.geneontology.org/formats/oboInOwl#hasDbXref ユーイング肉腫 Ewing sarcoma https://identifiers.org/kegg.disease:H00035 NANDO:2200048 http://nanbyodata.jp/ontology/NANDO_2200048 parent H00036 NANDO:2200048 H00036 http://www.geneontology.org/formats/oboInOwl#hasDbXref 骨肉腫 Osteosarcoma https://identifiers.org/kegg.disease:H00036 NANDO:2200056 http://nanbyodata.jp/ontology/NANDO_2200056 parent H00037 NANDO:2200056 H00037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 横紋筋肉腫 Rhabdomyosarcoma https://identifiers.org/kegg.disease:H00037 NANDO:2200040 http://nanbyodata.jp/ontology/NANDO_2200040 parent H00043 NANDO:2200040 H00043 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経芽腫 Neuroblastoma https://identifiers.org/kegg.disease:H00043 H00043 NANDO:2200040 H00043 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経芽細胞腫 Neuroblastoma https://identifiers.org/kegg.disease:H00043 NANDO:2200047 http://nanbyodata.jp/ontology/NANDO_2200047 parent H00048 NANDO:2200047 H00048 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝細胞癌 Hepatocellular carcinoma https://identifiers.org/kegg.disease:H00048 H00048 NANDO:2200047 H00048 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝癌 Hepatocellular carcinoma https://identifiers.org/kegg.disease:H00048 H00048 NANDO:2200047 H00048 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝細胞癌 Liver cancer https://identifiers.org/kegg.disease:H00048 H00048 NANDO:2200047 H00048 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝癌 Liver cancer https://identifiers.org/kegg.disease:H00048 NANDO:2100203 http://nanbyodata.jp/ontology/NANDO_2100203 parent H00093 NANDO:2100203 H00093 http://www.geneontology.org/formats/oboInOwl#hasDbXref 複合免疫不全症 Combined immunodeficiency https://identifiers.org/kegg.disease:H00093 NANDO:2100134 http://nanbyodata.jp/ontology/NANDO_2100134 parent H00216 NANDO:2100134 H00216 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎過形成症 Congenital adrenal hyperplasia https://identifiers.org/kegg.disease:H00216 H00216 NANDO:2100134 H00216 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎酵素欠損症 Congenital adrenal hyperplasia https://identifiers.org/kegg.disease:H00216 NANDO:2100189 http://nanbyodata.jp/ontology/NANDO_2100189 parent H00225 NANDO:2100189 H00225 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血栓性血小板減少性紫斑病 Thrombotic thrombocytopenic purpura https://identifiers.org/kegg.disease:H00225 H00225 NANDO:2100189 H00225 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血栓性血小板減少性紫斑病 Moschcowitz disease https://identifiers.org/kegg.disease:H00225 H00225 NANDO:2100189 H00225 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血栓性血小板減少性紫斑病 Schulman-Upshaw syndrome https://identifiers.org/kegg.disease:H00225 NANDO:2100187 http://nanbyodata.jp/ontology/NANDO_2100187 parent H00236 NANDO:2100187 H00236 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性赤血球増加症 Congenital polycythemia https://identifiers.org/kegg.disease:H00236 H00236 NANDO:2100187 H00236 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球増加症 Congenital polycythemia https://identifiers.org/kegg.disease:H00236 H00236 NANDO:2100187 H00236 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性赤血球増加症 Familial erythrocytosis (ECYT) https://identifiers.org/kegg.disease:H00236 H00236 NANDO:2100187 H00236 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球増加症 Familial erythrocytosis (ECYT) https://identifiers.org/kegg.disease:H00236 NANDO:2100131 http://nanbyodata.jp/ontology/NANDO_2100131 parent H00242 NANDO:2100131 H00242 http://www.geneontology.org/formats/oboInOwl#hasDbXref リドル症候群 Liddle syndrome https://identifiers.org/kegg.disease:H00242 NANDO:2100126 http://nanbyodata.jp/ontology/NANDO_2100126 parent H00244 NANDO:2100126 H00244 http://www.geneontology.org/formats/oboInOwl#hasDbXref 偽性副甲状腺機能低下症 Pseudohypoparathyroidism https://identifiers.org/kegg.disease:H00244 NANDO:2100123 http://nanbyodata.jp/ontology/NANDO_2100123 parent H00246 NANDO:2100123 H00246 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副甲状腺機能亢進症 Familial hyperparathyroidism https://identifiers.org/kegg.disease:H00246 H00246 NANDO:2100123 H00246 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副甲状腺機能亢進症 Primary hyperparathyroidism https://identifiers.org/kegg.disease:H00246 NANDO:2100138 http://nanbyodata.jp/ontology/NANDO_2100138 parent H00255 NANDO:2100138 H00255 http://www.geneontology.org/formats/oboInOwl#hasDbXref 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism https://identifiers.org/kegg.disease:H00255 NANDO:2100130 http://nanbyodata.jp/ontology/NANDO_2100130 parent H00259 NANDO:2100130 H00259 http://www.geneontology.org/formats/oboInOwl#hasDbXref AME 症候群 Apparent mineralocorticoid excess syndrome https://identifiers.org/kegg.disease:H00259 H00259 NANDO:2100130 H00259 http://www.geneontology.org/formats/oboInOwl#hasDbXref 11β-ヒドロキシステロイドデヒドロゲナーゼ欠損症 Apparent mineralocorticoid excess syndrome https://identifiers.org/kegg.disease:H00259 H00259 NANDO:2100130 H00259 http://www.geneontology.org/formats/oboInOwl#hasDbXref AME 症候群 11-beta-ketoreductase deficiency https://identifiers.org/kegg.disease:H00259 H00259 NANDO:2100130 H00259 http://www.geneontology.org/formats/oboInOwl#hasDbXref 11β-ヒドロキシステロイドデヒドロゲナーゼ欠損症 11-beta-ketoreductase deficiency https://identifiers.org/kegg.disease:H00259 NANDO:2100244 http://nanbyodata.jp/ontology/NANDO_2100244 parent H00290 NANDO:2100244 H00290 http://www.geneontology.org/formats/oboInOwl#hasDbXref エカルディ・グティエール症候群 Aicardi-Goutieres syndrome https://identifiers.org/kegg.disease:H00290 NANDO:2100299 http://nanbyodata.jp/ontology/NANDO_2100299 parent H00433 NANDO:2100299 H00433 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホルト・オラム症候群 Holt-Oram syndrome https://identifiers.org/kegg.disease:H00433 NANDO:2100219 http://nanbyodata.jp/ontology/NANDO_2100219 parent H00440 NANDO:2100219 H00440 http://www.geneontology.org/formats/oboInOwl#hasDbXref レット症候群 Rett syndrome https://identifiers.org/kegg.disease:H00440 NANDO:2100231 http://nanbyodata.jp/ontology/NANDO_2100231 parent H00455 NANDO:2100231 H00455 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脊髄性筋萎縮症 Spinal muscular atrophy https://identifiers.org/kegg.disease:H00455 NANDO:2100224 http://nanbyodata.jp/ontology/NANDO_2100224 parent H00465 NANDO:2100224 H00465 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脆弱Ｘ症候群 Fragile X syndrome https://identifiers.org/kegg.disease:H00465 NANDO:2100218 http://nanbyodata.jp/ontology/NANDO_2100218 parent H00530 NANDO:2100218 H00530 http://www.geneontology.org/formats/oboInOwl#hasDbXref ジュベール症候群関連疾患 Joubert syndrome and related disorders https://identifiers.org/kegg.disease:H00530 NANDO:2100296 http://nanbyodata.jp/ontology/NANDO_2100296 parent H00533 NANDO:2100296 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref オスラー病 Hereditary hemorrhagic telangiectasia https://identifiers.org/kegg.disease:H00533 H00533 NANDO:2100296 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性出血性毛細血管拡張症 Hereditary hemorrhagic telangiectasia https://identifiers.org/kegg.disease:H00533 H00533 NANDO:2100296 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref オスラー病 Osler disease https://identifiers.org/kegg.disease:H00533 H00533 NANDO:2100296 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性出血性毛細血管拡張症 Osler disease https://identifiers.org/kegg.disease:H00533 NANDO:2100237 http://nanbyodata.jp/ontology/NANDO_2100237 parent H00810 NANDO:2100237 H00810 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性ミオクローヌスてんかん Progressive myoclonic epilepsy https://identifiers.org/kegg.disease:H00810 NANDO:2100241 http://nanbyodata.jp/ontology/NANDO_2100241 parent H00833 NANDO:2100241 H00833 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳の鉄沈着を伴う神経変性疾患 Neurodegeneration with brain iron accumulation https://identifiers.org/kegg.disease:H00833 NANDO:2100226 http://nanbyodata.jp/ontology/NANDO_2100226 parent H00849 NANDO:2100226 H00849 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳クレアチン欠乏症候群 Cerebral creatine deficiency syndrome https://identifiers.org/kegg.disease:H00849 NANDO:2100178 http://nanbyodata.jp/ontology/NANDO_2100178 parent H00917 NANDO:2100178 H00917 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球形成異常性貧血 Congenital dyserythropoietic anemia https://identifiers.org/kegg.disease:H00917 H00917 NANDO:2100178 H00917 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球生成不全性貧血 Congenital dyserythropoietic anemia https://identifiers.org/kegg.disease:H00917 H00917 NANDO:2100178 H00917 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球異形成貧血 Congenital dyserythropoietic anemia https://identifiers.org/kegg.disease:H00917 NANDO:2100135 http://nanbyodata.jp/ontology/NANDO_2100135 parent H00937 NANDO:2100135 H00937 http://www.geneontology.org/formats/oboInOwl#hasDbXref 思春期早発症 Precocious puberty https://identifiers.org/kegg.disease:H00937 NANDO:2100239 http://nanbyodata.jp/ontology/NANDO_2100239 parent H00998 NANDO:2100239 H00998 http://www.geneontology.org/formats/oboInOwl#hasDbXref 小児交互性片麻痺 Alternating hemiplegia of childhood https://identifiers.org/kegg.disease:H00998 NANDO:2100182 http://nanbyodata.jp/ontology/NANDO_2100182 parent H01053 NANDO:2100182 H01053 http://www.geneontology.org/formats/oboInOwl#hasDbXref 発作性夜間ヘモグロビン尿症 Paroxysmal nocturnal hemoglobinuria https://identifiers.org/kegg.disease:H01053 NANDO:2100174 http://nanbyodata.jp/ontology/NANDO_2100174 parent H01103 NANDO:2100174 H01103 http://www.geneontology.org/formats/oboInOwl#hasDbXref α1-アンチトリプシン欠乏症 Alpha-1-antitrypsin deficiency https://identifiers.org/kegg.disease:H01103 NANDO:2100201 http://nanbyodata.jp/ontology/NANDO_2100201 parent H01132 NANDO:2100201 H01132 http://www.geneontology.org/formats/oboInOwl#hasDbXref 再生不良性貧血 Aplastic anemia https://identifiers.org/kegg.disease:H01132 NANDO:2100144 http://nanbyodata.jp/ontology/NANDO_2100144 parent H01143 NANDO:2100144 H01143 http://www.geneontology.org/formats/oboInOwl#hasDbXref ビタミンD依存性くる病 Vitamin D-dependent rickets https://identifiers.org/kegg.disease:H01143 NANDO:2100180 http://nanbyodata.jp/ontology/NANDO_2100180 parent H01145 NANDO:2100180 H01145 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無トランスフェリン血症 Congenital hypotransferrinemia https://identifiers.org/kegg.disease:H01145 H01145 NANDO:2100180 H01145 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無トランスフェリン血症 Atransferrinemia https://identifiers.org/kegg.disease:H01145 NANDO:2100242 http://nanbyodata.jp/ontology/NANDO_2100242 parent H01177 NANDO:2100242 H01177 http://www.geneontology.org/formats/oboInOwl#hasDbXref 乳児両側性線条体壊死 Infantile bilateral striatal necrosis https://identifiers.org/kegg.disease:H01177 NANDO:2100115 http://nanbyodata.jp/ontology/NANDO_2100115 parent H01388 NANDO:2100115 H01388 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高プロラクチン血症 Hyperprolactinemia https://identifiers.org/kegg.disease:H01388 H01388 NANDO:2100115 H01388 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性 PRL 分泌亢進症 Hyperprolactinemia https://identifiers.org/kegg.disease:H01388 NANDO:2100228 http://nanbyodata.jp/ontology/NANDO_2100228 parent H01396 NANDO:2100228 H01396 http://www.geneontology.org/formats/oboInOwl#hasDbXref もやもや病 Moyamoya disease https://identifiers.org/kegg.disease:H01396 NANDO:2100165 http://nanbyodata.jp/ontology/NANDO_2100165 parent H01425 NANDO:2100165 H01425 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライソゾーム病 (リソソーム蓄積症) Lysosomal storage disease https://identifiers.org/kegg.disease:H01425 NANDO:2100163 http://nanbyodata.jp/ontology/NANDO_2100163 parent H01427 NANDO:2100163 H01427 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミトコンドリア病 Mitochondrial disease https://identifiers.org/kegg.disease:H01427 NANDO:2100286 http://nanbyodata.jp/ontology/NANDO_2100286 parent H01428 NANDO:2100286 H01428 http://www.geneontology.org/formats/oboInOwl#hasDbXref 色素性乾皮症 Xeroderma pigmentosum https://identifiers.org/kegg.disease:H01428 NANDO:2100127 http://nanbyodata.jp/ontology/NANDO_2100127 parent H01431 NANDO:2100127 H01431 http://www.geneontology.org/formats/oboInOwl#hasDbXref クッシング症候群 Cushing syndrome https://identifiers.org/kegg.disease:H01431 NANDO:2100287 http://nanbyodata.jp/ontology/NANDO_2100287 parent H01437 NANDO:2100287 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref レックリングハウゼン病 Neurofibromatosis type 1 https://identifiers.org/kegg.disease:H01437 H01437 NANDO:2100287 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経線維腫症 I 型 Neurofibromatosis type 1 https://identifiers.org/kegg.disease:H01437 H01437 NANDO:2100287 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref レックリングハウゼン病 Von Recklinghausen disease https://identifiers.org/kegg.disease:H01437 H01437 NANDO:2100287 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経線維腫症 I 型 Von Recklinghausen disease https://identifiers.org/kegg.disease:H01437 NANDO:2100147 http://nanbyodata.jp/ontology/NANDO_2100147 parent H01475 NANDO:2100147 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪異栄養症 Lipodystrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:2100147 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪萎縮症 Lipodystrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:2100147 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref リポジストロフィー Lipodystrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:2100147 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪異栄養症 Lipoatrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:2100147 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪萎縮症 Lipoatrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:2100147 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref リポジストロフィー Lipoatrophy https://identifiers.org/kegg.disease:H01475 NANDO:2200019 http://nanbyodata.jp/ontology/NANDO_2200019 parent H01481 NANDO:2200019 H01481 http://www.geneontology.org/formats/oboInOwl#hasDbXref 骨髄異形成症候群 Myelodysplastic syndrome https://identifiers.org/kegg.disease:H01481 NANDO:2100112 http://nanbyodata.jp/ontology/NANDO_2100112 parent H01483 NANDO:2100112 H01483 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先端巨大症 Acromegaly https://identifiers.org/kegg.disease:H01483 NANDO:2100250 http://nanbyodata.jp/ontology/NANDO_2100250 parent H01490 NANDO:2100250 H01490 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発性硬化症 Multiple sclerosis https://identifiers.org/kegg.disease:H01490 NANDO:2100304 http://nanbyodata.jp/ontology/NANDO_2100304 parent H01493 NANDO:2100304 H01493 http://www.geneontology.org/formats/oboInOwl#hasDbXref 限局性強皮症 Localized Scleroderma https://identifiers.org/kegg.disease:H01493 H01493 NANDO:2100304 H01493 http://www.geneontology.org/formats/oboInOwl#hasDbXref モルフィア Localized Scleroderma https://identifiers.org/kegg.disease:H01493 H01493 NANDO:2100304 H01493 http://www.geneontology.org/formats/oboInOwl#hasDbXref 限局性強皮症 Morphea https://identifiers.org/kegg.disease:H01493 H01493 NANDO:2100304 H01493 http://www.geneontology.org/formats/oboInOwl#hasDbXref モルフィア Morphea https://identifiers.org/kegg.disease:H01493 NANDO:2200031 http://nanbyodata.jp/ontology/NANDO_2200031 parent H01512 NANDO:2200031 H01512 http://www.geneontology.org/formats/oboInOwl#hasDbXref ランゲルハンス細胞組織球症 Langerhans cell histiocytosis https://identifiers.org/kegg.disease:H01512 NANDO:2200042 http://nanbyodata.jp/ontology/NANDO_2200042 parent H01513 NANDO:2200042 H01513 http://www.geneontology.org/formats/oboInOwl#hasDbXref 網膜芽細胞腫 Retinoblastoma https://identifiers.org/kegg.disease:H01513 H01513 NANDO:2200042 H01513 http://www.geneontology.org/formats/oboInOwl#hasDbXref 網膜芽腫 Retinoblastoma https://identifiers.org/kegg.disease:H01513 NANDO:2100251 http://nanbyodata.jp/ontology/NANDO_2100251 parent H01527 NANDO:2100251 H01527 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多巣性運動ニューロパチー Chronic inflammatory demyelinating polyradiculoneuropathy https://identifiers.org/kegg.disease:H01527 H01527 NANDO:2100251 H01527 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性炎症性脱髄性多発神経炎 Chronic inflammatory demyelinating polyradiculoneuropathy https://identifiers.org/kegg.disease:H01527 NANDO:2100181 http://nanbyodata.jp/ontology/NANDO_2100181 parent H01585 NANDO:2100181 H01585 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性溶血性貧血 Autoimmune hemolytic anemia https://identifiers.org/kegg.disease:H01585 NANDO:2100252 http://nanbyodata.jp/ontology/NANDO_2100252 parent H01594 NANDO:2100252 H01594 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症筋無力症 Myasthenia gravis https://identifiers.org/kegg.disease:H01594 NANDO:2200021 http://nanbyodata.jp/ontology/NANDO_2200021 parent H01601 NANDO:2200021 H01601 http://www.geneontology.org/formats/oboInOwl#hasDbXref 未分化大細胞リンパ腫 Anaplastic large-cell lymphoma https://identifiers.org/kegg.disease:H01601 NANDO:2100200 http://nanbyodata.jp/ontology/NANDO_2100200 parent H01605 NANDO:2100200 H01605 http://www.geneontology.org/formats/oboInOwl#hasDbXref 骨髄線維症 Myelofibrosis https://identifiers.org/kegg.disease:H01605 NANDO:2100194 http://nanbyodata.jp/ontology/NANDO_2100194 parent H01612 NANDO:2100194 H01612 http://www.geneontology.org/formats/oboInOwl#hasDbXref 本態性血小板血症 Essential thrombocythemia https://identifiers.org/kegg.disease:H01612 H01612 NANDO:2100194 H01612 http://www.geneontology.org/formats/oboInOwl#hasDbXref 本態性血小板血症 Essential thrombocytosis https://identifiers.org/kegg.disease:H01612 H01612 NANDO:2100194 H01612 http://www.geneontology.org/formats/oboInOwl#hasDbXref 本態性血小板血症 Thrombocythemia https://identifiers.org/kegg.disease:H01612 NANDO:2100238 http://nanbyodata.jp/ontology/NANDO_2100238 parent H01616 NANDO:2100238 H01616 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脊髄小脳変性症 Spinocerebellar degeneration https://identifiers.org/kegg.disease:H01616 NANDO:2100111 http://nanbyodata.jp/ontology/NANDO_2100111 parent H01618 NANDO:2100111 H01618 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性巨人症 Pituitary gigantism https://identifiers.org/kegg.disease:H01618 NANDO:2100119 http://nanbyodata.jp/ontology/NANDO_2100119 parent H01645 NANDO:2100119 H01645 http://www.geneontology.org/formats/oboInOwl#hasDbXref 甲状腺機能亢進症 Hyperthyroidism https://identifiers.org/kegg.disease:H01645 H01645 NANDO:2100119 H01645 http://www.geneontology.org/formats/oboInOwl#hasDbXref 甲状腺中毒症 Hyperthyroidism https://identifiers.org/kegg.disease:H01645 H01645 NANDO:2100119 H01645 http://www.geneontology.org/formats/oboInOwl#hasDbXref 甲状腺機能亢進症 Thyrotoxicosis https://identifiers.org/kegg.disease:H01645 H01645 NANDO:2100119 H01645 http://www.geneontology.org/formats/oboInOwl#hasDbXref 甲状腺中毒症 Thyrotoxicosis https://identifiers.org/kegg.disease:H01645 NANDO:2100285 http://nanbyodata.jp/ontology/NANDO_2100285 parent H01663 NANDO:2100285 H01663 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膿疱性乾癬 Pustular psoriasis https://identifiers.org/kegg.disease:H01663 NANDO:2100290 http://nanbyodata.jp/ontology/NANDO_2100290 parent H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2100290 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Lyell syndrome https://identifiers.org/kegg.disease:H01694 NANDO:2100245 http://nanbyodata.jp/ontology/NANDO_2100245 parent H01696 NANDO:2100245 H01696 http://www.geneontology.org/formats/oboInOwl#hasDbXref 亜急性硬化性全脳炎 Subacute sclerosing panencephalitis https://identifiers.org/kegg.disease:H01696 NANDO:2100284 http://nanbyodata.jp/ontology/NANDO_2100284 parent H01737 NANDO:2100284 H01737 http://www.geneontology.org/formats/oboInOwl#hasDbXref 表皮水疱症 Epidermolysis bullosa https://identifiers.org/kegg.disease:H01737 NANDO:2100149 http://nanbyodata.jp/ontology/NANDO_2100149 parent H01739 NANDO:2100149 H01739 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多嚢胞性卵巣症候群 Polycystic ovary syndrome https://identifiers.org/kegg.disease:H01739 NANDO:2100223 http://nanbyodata.jp/ontology/NANDO_2100223 parent H01752 NANDO:2100223 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖アルファサラセミア精神遅滞症候群 ATR-X syndrome https://identifiers.org/kegg.disease:H01752 H01752 NANDO:2100223 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref ATR-X 症候群 ATR-X syndrome https://identifiers.org/kegg.disease:H01752 H01752 NANDO:2100223 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖アルファサラセミア精神遅滞症候群 X-linked alpha-thalassemia/mental retardation syndrome https://identifiers.org/kegg.disease:H01752 H01752 NANDO:2100223 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref ATR-X 症候群 X-linked alpha-thalassemia/mental retardation syndrome https://identifiers.org/kegg.disease:H01752 NANDO:2100154 http://nanbyodata.jp/ontology/NANDO_2100154 parent H01758 NANDO:2100154 H01758 http://www.geneontology.org/formats/oboInOwl#hasDbXref 再発性多発軟骨炎 Relapsing polychondritis https://identifiers.org/kegg.disease:H01758 NANDO:2100283 http://nanbyodata.jp/ontology/NANDO_2100283 parent H01771 NANDO:2100283 H01771 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性魚鱗癬 Congenital ichthyosis https://identifiers.org/kegg.disease:H01771 NANDO:2100235 http://nanbyodata.jp/ontology/NANDO_2100235 parent H01777 NANDO:2100235 H01777 http://www.geneontology.org/formats/oboInOwl#hasDbXref シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome https://identifiers.org/kegg.disease:H01777 NANDO:2100234 http://nanbyodata.jp/ontology/NANDO_2100234 parent H01810 NANDO:2100234 H01810 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性ミオパチー Congenital myopathy https://identifiers.org/kegg.disease:H01810 NANDO:2100246 http://nanbyodata.jp/ontology/NANDO_2100246 parent H01812 NANDO:2100246 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン脳炎 Rasmussen encephalitis https://identifiers.org/kegg.disease:H01812 H01812 NANDO:2100246 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン症候群 Rasmussen encephalitis https://identifiers.org/kegg.disease:H01812 H01812 NANDO:2100246 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン脳炎 Rasmussen syndrome https://identifiers.org/kegg.disease:H01812 H01812 NANDO:2100246 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン症候群 Rasmussen syndrome https://identifiers.org/kegg.disease:H01812 NANDO:2100249 http://nanbyodata.jp/ontology/NANDO_2100249 parent H01829 NANDO:2100249 H01829 http://www.geneontology.org/formats/oboInOwl#hasDbXref 難治頻回部分発作重積型急性脳炎 Acute encephalitis with refractory repetitive partial seizures https://identifiers.org/kegg.disease:H01829 NANDO:2100247 http://nanbyodata.jp/ontology/NANDO_2100247 parent H01841 NANDO:2100247 H01841 http://www.geneontology.org/formats/oboInOwl#hasDbXref 痙攣重積型 (二相性) 急性脳症 Acute encephalopathy with biphasic seizures and late reduced diffusion https://identifiers.org/kegg.disease:H01841 NANDO:2100261 http://nanbyodata.jp/ontology/NANDO_2100261 parent H01853 NANDO:2100261 H01853 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非特異性多発性小腸潰瘍症 Chronic nonspecific multiple ulcers of the small intestine https://identifiers.org/kegg.disease:H01853 NANDO:2100124 http://nanbyodata.jp/ontology/NANDO_2100124 parent H01862 NANDO:2100124 H01862 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副甲状腺機能低下症 Hypoparathyroidism https://identifiers.org/kegg.disease:H01862 NANDO:2100114 http://nanbyodata.jp/ontology/NANDO_2100114 parent H02037 NANDO:2100114 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 成長ホルモン不応性症候群 Growth hormone insensitivity syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2100114 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラロン症候群 Growth hormone insensitivity syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2100114 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性低身長症 II型 Growth hormone insensitivity syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2100114 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 成長ホルモン不応性症候群 Laron syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2100114 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラロン症候群 Laron syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2100114 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性低身長症 II型 Laron syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2100114 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 成長ホルモン不応性症候群 Pituitary dwarfism II https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2100114 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラロン症候群 Pituitary dwarfism II https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2100114 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性低身長症 II型 Pituitary dwarfism II https://identifiers.org/kegg.disease:H02037 NANDO:2100193 http://nanbyodata.jp/ontology/NANDO_2100193 parent H02051 NANDO:2100193 H02051 http://www.geneontology.org/formats/oboInOwl#hasDbXref メイ・ヘグリン異常 May-Hegglin anomaly https://identifiers.org/kegg.disease:H02051 NANDO:2100272 http://nanbyodata.jp/ontology/NANDO_2100272 parent H02054 NANDO:2100272 H02054 http://www.geneontology.org/formats/oboInOwl#hasDbXref クリグラー・ナジャー症候群 Crigler-Najjar syndrome https://identifiers.org/kegg.disease:H02054 NANDO:2200046 http://nanbyodata.jp/ontology/NANDO_2200046 parent H02302 NANDO:2200046 H02302 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝芽腫 Hepatoblastoma https://identifiers.org/kegg.disease:H02302 NANDO:2200014 http://nanbyodata.jp/ontology/NANDO_2200014 parent H02411 NANDO:2200014 H02411 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia https://identifiers.org/kegg.disease:H02411 NANDO:2200038 http://nanbyodata.jp/ontology/NANDO_2200038 parent H02425 NANDO:2200038 H02425 http://www.geneontology.org/formats/oboInOwl#hasDbXref エルドハイム・チェスター病 Erdheim-Chester disease https://identifiers.org/kegg.disease:H02425 NANDO:2200015 http://nanbyodata.jp/ontology/NANDO_2200015 parent H02541 NANDO:2200015 H02541 http://www.geneontology.org/formats/oboInOwl#hasDbXref 若年性骨髄単球性白血病 Juvenile myelomonocytic leukemia https://identifiers.org/kegg.disease:H02541 NANDO:2200007 http://nanbyodata.jp/ontology/NANDO_2200007 parent H02542 NANDO:2200007 H02542 http://www.geneontology.org/formats/oboInOwl#hasDbXref 急性前骨髄球性白血病 Acute promyelocytic leukemia https://identifiers.org/kegg.disease:H02542 NANDO:2200070 http://nanbyodata.jp/ontology/NANDO_2200070 parent H00028 NANDO:2200070 H00028 http://www.geneontology.org/formats/oboInOwl#hasDbXref 絨毛癌 Choriocarcinoma https://identifiers.org/kegg.disease:H00028 NANDO:2200074 http://nanbyodata.jp/ontology/NANDO_2200074 parent H00032 NANDO:2200074 H00032 http://www.geneontology.org/formats/oboInOwl#hasDbXref 甲状腺癌 Thyroid cancer https://identifiers.org/kegg.disease:H00032 NANDO:2200077 http://nanbyodata.jp/ontology/NANDO_2200077 parent H00038 NANDO:2200077 H00038 http://www.geneontology.org/formats/oboInOwl#hasDbXref 悪性黒色腫 Melanoma https://identifiers.org/kegg.disease:H00038 NANDO:2200061 http://nanbyodata.jp/ontology/NANDO_2200061 parent H00050 NANDO:2200061 H00050 http://www.geneontology.org/formats/oboInOwl#hasDbXref 滑膜肉腫 Synovial sarcoma https://identifiers.org/kegg.disease:H00050 NANDO:2200063 http://nanbyodata.jp/ontology/NANDO_2200063 parent H00051 NANDO:2200063 H00051 http://www.geneontology.org/formats/oboInOwl#hasDbXref 胞巣状軟部肉腫 Alveolar soft part sarcoma https://identifiers.org/kegg.disease:H00051 NANDO:2200062 http://nanbyodata.jp/ontology/NANDO_2200062 parent H00052 NANDO:2200062 H00052 http://www.geneontology.org/formats/oboInOwl#hasDbXref 明細胞肉腫 Clear cell sarcoma of soft tissue https://identifiers.org/kegg.disease:H00052 NANDO:2200205 http://nanbyodata.jp/ontology/NANDO_2200205 parent H00218 NANDO:2200205 H00218 http://www.geneontology.org/formats/oboInOwl#hasDbXref 嚢胞性線維症 Cystic fibrosis https://identifiers.org/kegg.disease:H00218 NANDO:2200146 http://nanbyodata.jp/ontology/NANDO_2200146 parent H00239 NANDO:2200146 H00239 http://www.geneontology.org/formats/oboInOwl#hasDbXref バーター症候群 Bartter syndrome https://identifiers.org/kegg.disease:H00239 NANDO:2200145 http://nanbyodata.jp/ontology/NANDO_2200145 parent H00240 NANDO:2200145 H00240 http://www.geneontology.org/formats/oboInOwl#hasDbXref ギテルマン症候群 Gitelman syndrome https://identifiers.org/kegg.disease:H00240 NANDO:2200132 http://nanbyodata.jp/ontology/NANDO_2200132 parent H00464 NANDO:2200132 H00464 http://www.geneontology.org/formats/oboInOwl#hasDbXref 爪膝蓋骨症候群 Nail-patella syndrome https://identifiers.org/kegg.disease:H00464 NANDO:2200140 http://nanbyodata.jp/ontology/NANDO_2200140 parent H00537 NANDO:2200140 H00537 http://www.geneontology.org/formats/oboInOwl#hasDbXref ネフロン癆 Nephronophthisis https://identifiers.org/kegg.disease:H00537 NANDO:2200152 http://nanbyodata.jp/ontology/NANDO_2200152 parent H00542 NANDO:2200152 H00542 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発性嚢胞腎 Polycystic kidney disease https://identifiers.org/kegg.disease:H00542 NANDO:2200117 http://nanbyodata.jp/ontology/NANDO_2200117 parent H00576 NANDO:2200117 H00576 http://www.geneontology.org/formats/oboInOwl#hasDbXref ピアソン症候群 Pierson syndrome https://identifiers.org/kegg.disease:H00576 NANDO:2200127 http://nanbyodata.jp/ontology/NANDO_2200127 parent H00578 NANDO:2200127 H00578 http://www.geneontology.org/formats/oboInOwl#hasDbXref エプスタイン症候群 Epstein syndrome https://identifiers.org/kegg.disease:H00578 NANDO:2200126 http://nanbyodata.jp/ontology/NANDO_2200126 parent H00581 NANDO:2200126 H00581 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルポート症候群 Alport syndrome https://identifiers.org/kegg.disease:H00581 NANDO:2200113 http://nanbyodata.jp/ontology/NANDO_2200113 parent H00626 NANDO:2200113 H00626 http://www.geneontology.org/formats/oboInOwl#hasDbXref 巣状分節性糸球体硬化症 Focal segmental glomerulosclerosis https://identifiers.org/kegg.disease:H00626 NANDO:2200188 http://nanbyodata.jp/ontology/NANDO_2200188 parent H00692 NANDO:2200188 H00692 http://www.geneontology.org/formats/oboInOwl#hasDbXref ロウ症候群 Lowe syndrome https://identifiers.org/kegg.disease:H00692 H00692 NANDO:2200188 H00692 http://www.geneontology.org/formats/oboInOwl#hasDbXref ロウ症候群 Oculocerebrorenal Dystrophy (OCRL) https://identifiers.org/kegg.disease:H00692 NANDO:2200134 http://nanbyodata.jp/ontology/NANDO_2200134 parent H00887 NANDO:2200134 H00887 http://www.geneontology.org/formats/oboInOwl#hasDbXref リポ蛋白糸球体症 Lipoprotein glomerulopathy https://identifiers.org/kegg.disease:H00887 NANDO:2200198 http://nanbyodata.jp/ontology/NANDO_2200198 parent H00916 NANDO:2200198 H00916 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性中枢性低換気症候群 Congenital central hypoventilation syndrome https://identifiers.org/kegg.disease:H00916 NANDO:2200093 http://nanbyodata.jp/ontology/NANDO_2200093 parent H01007 NANDO:2200093 H01007 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脈絡叢乳頭腫 Choroid plexus papilloma https://identifiers.org/kegg.disease:H01007 NANDO:2200179 http://nanbyodata.jp/ontology/NANDO_2200179 parent H01037 NANDO:2200179 H01037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膀胱尿管逆流 Vesicoureteral reflux https://identifiers.org/kegg.disease:H01037 NANDO:2200095 http://nanbyodata.jp/ontology/NANDO_2200095 parent H01102 NANDO:2200095 H01102 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体腺腫 Pituitary adenomas https://identifiers.org/kegg.disease:H01102 NANDO:2200200 http://nanbyodata.jp/ontology/NANDO_2200200 parent H01122 NANDO:2200200 H01122 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性肺胞蛋白症 Congenital pulmonary alveolar proteinosis https://identifiers.org/kegg.disease:H01122 H01122 NANDO:2200200 H01122 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺サーファクタント代謝異常症 Congenital pulmonary alveolar proteinosis https://identifiers.org/kegg.disease:H01122 H01122 NANDO:2200200 H01122 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性肺胞蛋白症 Pulmonary surfactant metabolism dysfunction https://identifiers.org/kegg.disease:H01122 H01122 NANDO:2200200 H01122 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺サーファクタント代謝異常症 Pulmonary surfactant metabolism dysfunction https://identifiers.org/kegg.disease:H01122 NANDO:2200133 http://nanbyodata.jp/ontology/NANDO_2200133 parent H01260 NANDO:2200133 H01260 http://www.geneontology.org/formats/oboInOwl#hasDbXref フィブロネクチン腎症 Glomerulopathy with fibronectin deposits https://identifiers.org/kegg.disease:H01260 NANDO:2200202 http://nanbyodata.jp/ontology/NANDO_2200202 parent H01298 NANDO:2200202 H01298 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺胞微石症 Pulmonary alveolar microlithiasis https://identifiers.org/kegg.disease:H01298 NANDO:2200131 http://nanbyodata.jp/ontology/NANDO_2200131 parent H01434 NANDO:2200131 H01434 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非典型溶血性尿毒症症候群 Atypical hemolytic uremic syndrome https://identifiers.org/kegg.disease:H01434 NANDO:2200128 http://nanbyodata.jp/ontology/NANDO_2200128 parent H01500 NANDO:2200128 H01500 http://www.geneontology.org/formats/oboInOwl#hasDbXref ループス腎炎 Lupus nephritis https://identifiers.org/kegg.disease:H01500 NANDO:2200076 http://nanbyodata.jp/ontology/NANDO_2200076 parent H01508 NANDO:2200076 H01508 http://www.geneontology.org/formats/oboInOwl#hasDbXref 唾液腺癌 Salivary gland cancer https://identifiers.org/kegg.disease:H01508 NANDO:2200094 http://nanbyodata.jp/ontology/NANDO_2200094 parent H01556 NANDO:2200094 H01556 http://www.geneontology.org/formats/oboInOwl#hasDbXref 髄膜腫 Meningioma https://identifiers.org/kegg.disease:H01556 NANDO:2200121 http://nanbyodata.jp/ontology/NANDO_2200121 parent H01581 NANDO:2200121 H01581 http://www.geneontology.org/formats/oboInOwl#hasDbXref IgA 腎症 IgA nephropathy https://identifiers.org/kegg.disease:H01581 H01581 NANDO:2200121 H01581 http://www.geneontology.org/formats/oboInOwl#hasDbXref IgA 腎症 Berger disease https://identifiers.org/kegg.disease:H01581 NANDO:2200090 http://nanbyodata.jp/ontology/NANDO_2200090 parent H01667 NANDO:2200090 H01667 http://www.geneontology.org/formats/oboInOwl#hasDbXref 髄芽腫 Medulloblastoma https://identifiers.org/kegg.disease:H01667 NANDO:2200199 http://nanbyodata.jp/ontology/NANDO_2200199 parent H01716 NANDO:2200199 H01716 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性間質性肺炎 Idiopathic interstitial pneumonias https://identifiers.org/kegg.disease:H01716 NANDO:2200125 http://nanbyodata.jp/ontology/NANDO_2200125 parent H01721 NANDO:2200125 H01721 http://www.geneontology.org/formats/oboInOwl#hasDbXref グッドパスチャー症候群 Goodpasture syndrome https://identifiers.org/kegg.disease:H01721 H01721 NANDO:2200125 H01721 http://www.geneontology.org/formats/oboInOwl#hasDbXref 抗糸球体基底膜腎炎 Goodpasture syndrome https://identifiers.org/kegg.disease:H01721 H01721 NANDO:2200125 H01721 http://www.geneontology.org/formats/oboInOwl#hasDbXref グッドパスチャー症候群 Anti-glomerular basement membrane (GBM) disease https://identifiers.org/kegg.disease:H01721 H01721 NANDO:2200125 H01721 http://www.geneontology.org/formats/oboInOwl#hasDbXref 抗糸球体基底膜腎炎 Anti-glomerular basement membrane (GBM) disease https://identifiers.org/kegg.disease:H01721 NANDO:2200123 http://nanbyodata.jp/ontology/NANDO_2200123 parent H01726 NANDO:2200123 H01726 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膜性増殖性糸球体腎炎 Membranoproliferative glomerulonephritis https://identifiers.org/kegg.disease:H01726 NANDO:2200124 http://nanbyodata.jp/ontology/NANDO_2200124 parent H01767 NANDO:2200124 H01767 http://www.geneontology.org/formats/oboInOwl#hasDbXref 紫斑病性腎炎 Henoch-Schonlein purpura nephritis https://identifiers.org/kegg.disease:H01767 NANDO:2200139 http://nanbyodata.jp/ontology/NANDO_2200139 parent H02011 NANDO:2200139 H02011 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性若年性高尿酸血症性腎症 Familial juvenile hyperuricemic nephropathy https://identifiers.org/kegg.disease:H02011 NANDO:2200185 http://nanbyodata.jp/ontology/NANDO_2200185 parent H02129 NANDO:2200185 H02129 http://www.geneontology.org/formats/oboInOwl#hasDbXref Prune belly 症候群 Prune belly syndrome https://identifiers.org/kegg.disease:H02129 H02129 NANDO:2200185 H02129 http://www.geneontology.org/formats/oboInOwl#hasDbXref Prune belly 症候群 Eagle-Barret syndrome https://identifiers.org/kegg.disease:H02129 H02129 NANDO:2200185 H02129 http://www.geneontology.org/formats/oboInOwl#hasDbXref Prune belly 症候群 Triad syndrome https://identifiers.org/kegg.disease:H02129 H02129 NANDO:2200185 H02129 http://www.geneontology.org/formats/oboInOwl#hasDbXref Prune belly 症候群 Abdominal musculature deficiency syndrome https://identifiers.org/kegg.disease:H02129 NANDO:2200144 http://nanbyodata.jp/ontology/NANDO_2200144 parent H02310 NANDO:2200144 H02310 http://www.geneontology.org/formats/oboInOwl#hasDbXref 尿細管性アシドーシス Renal tubular acidosis https://identifiers.org/kegg.disease:H02310 NANDO:2200335 http://nanbyodata.jp/ontology/NANDO_2200335 parent H00081 NANDO:2200335 H00081 http://www.geneontology.org/formats/oboInOwl#hasDbXref 橋本病 Hashimoto thyroiditis https://identifiers.org/kegg.disease:H00081 NANDO:2200349 http://nanbyodata.jp/ontology/NANDO_2200349 parent H00244 NANDO:2200349 H00244 http://www.geneontology.org/formats/oboInOwl#hasDbXref 偽性副甲状腺機能低下症 Pseudohypoparathyroidism https://identifiers.org/kegg.disease:H00244 NANDO:2200343 http://nanbyodata.jp/ontology/NANDO_2200343 parent H00246 NANDO:2200343 H00246 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副甲状腺機能亢進症 Familial hyperparathyroidism https://identifiers.org/kegg.disease:H00246 H00246 NANDO:2200343 H00246 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副甲状腺機能亢進症 Primary hyperparathyroidism https://identifiers.org/kegg.disease:H00246 NANDO:2200324 http://nanbyodata.jp/ontology/NANDO_2200324 parent H00253 NANDO:2200324 H00253 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢性尿崩症 Central diabetes insipidus https://identifiers.org/kegg.disease:H00253 H00253 NANDO:2200324 H00253 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経下垂体性尿崩症 Central diabetes insipidus https://identifiers.org/kegg.disease:H00253 H00253 NANDO:2200324 H00253 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢性尿崩症 Neurohypophyseal diabetes insipidus https://identifiers.org/kegg.disease:H00253 H00253 NANDO:2200324 H00253 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経下垂体性尿崩症 Neurohypophyseal diabetes insipidus https://identifiers.org/kegg.disease:H00253 NANDO:2200229 http://nanbyodata.jp/ontology/NANDO_2200229 parent H00292 NANDO:2200229 H00292 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肥大型心筋症 Hypertrophic cardiomyopathy https://identifiers.org/kegg.disease:H00292 NANDO:2200230 http://nanbyodata.jp/ontology/NANDO_2200230 parent H00293 NANDO:2200230 H00293 http://www.geneontology.org/formats/oboInOwl#hasDbXref 不整脈源性右室心筋症 Arrhythmogenic right ventricular cardiomyopathy https://identifiers.org/kegg.disease:H00293 NANDO:2200232 http://nanbyodata.jp/ontology/NANDO_2200232 parent H00294 NANDO:2200232 H00294 http://www.geneontology.org/formats/oboInOwl#hasDbXref 拡張型心筋症 Dilated cardiomyopathy https://identifiers.org/kegg.disease:H00294 NANDO:2200254 http://nanbyodata.jp/ontology/NANDO_2200254 parent H00549 NANDO:2200254 H00549 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファロー四徴症 Tetralogy of Fallot https://identifiers.org/kegg.disease:H00549 NANDO:2200258 http://nanbyodata.jp/ontology/NANDO_2200258 parent H00550 NANDO:2200258 H00550 http://www.geneontology.org/formats/oboInOwl#hasDbXref 完全大血管転位症 Complete transposition of the great arteries https://identifiers.org/kegg.disease:H00550 NANDO:2200228 http://nanbyodata.jp/ontology/NANDO_2200228 parent H00720 NANDO:2200228 H00720 http://www.geneontology.org/formats/oboInOwl#hasDbXref QT 延長症候群 Long QT syndrome https://identifiers.org/kegg.disease:H00720 NANDO:2200212 http://nanbyodata.jp/ontology/NANDO_2200212 parent H00729 NANDO:2200212 H00729 http://www.geneontology.org/formats/oboInOwl#hasDbXref 洞不全症候群 Sick sinus syndrome https://identifiers.org/kegg.disease:H00729 H00729 NANDO:2200212 H00729 http://www.geneontology.org/formats/oboInOwl#hasDbXref 洞不全症候群 Sinus node dysfunction https://identifiers.org/kegg.disease:H00729 NANDO:2200226 http://nanbyodata.jp/ontology/NANDO_2200226 parent H00731 NANDO:2200226 H00731 http://www.geneontology.org/formats/oboInOwl#hasDbXref 心房細動 Atrial fibrillation https://identifiers.org/kegg.disease:H00731 NANDO:2200206 http://nanbyodata.jp/ontology/NANDO_2200206 parent H00892 NANDO:2200206 H00892 http://www.geneontology.org/formats/oboInOwl#hasDbXref 気管支拡張症 Bronchiectasis with or without elevated sweat chloride https://identifiers.org/kegg.disease:H00892 NANDO:2200256 http://nanbyodata.jp/ontology/NANDO_2200256 parent H00918 NANDO:2200256 H00918 http://www.geneontology.org/formats/oboInOwl#hasDbXref 両大血管右室起始症 Double-outlet right ventricle https://identifiers.org/kegg.disease:H00918 NANDO:2200221 http://nanbyodata.jp/ontology/NANDO_2200221 parent H01019 NANDO:2200221 H01019 http://www.geneontology.org/formats/oboInOwl#hasDbXref カテコールアミン誘発性多形性心室頻拍 Catecholaminergic polymorphic ventricular tachycardia https://identifiers.org/kegg.disease:H01019 NANDO:2200233 http://nanbyodata.jp/ontology/NANDO_2200233 parent H01219 NANDO:2200233 H01219 http://www.geneontology.org/formats/oboInOwl#hasDbXref 拘束性心筋症 Restrictive cardiomyopathy https://identifiers.org/kegg.disease:H01219 NANDO:2200210 http://nanbyodata.jp/ontology/NANDO_2200210 parent H01241 NANDO:2200210 H01241 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性横隔膜ヘルニア Congenital diaphragmatic hernia https://identifiers.org/kegg.disease:H01241 NANDO:2200249 http://nanbyodata.jp/ontology/NANDO_2200249 parent H01272 NANDO:2200249 H01272 http://www.geneontology.org/formats/oboInOwl#hasDbXref 左心低形成症候群 Hypoplastic left heart syndrome https://identifiers.org/kegg.disease:H01272 NANDO:2200322 http://nanbyodata.jp/ontology/NANDO_2200322 parent H01388 NANDO:2200322 H01388 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高プロラクチン血症 Hyperprolactinemia https://identifiers.org/kegg.disease:H01388 H01388 NANDO:2200322 H01388 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性 PRL 分泌亢進症 Hyperprolactinemia https://identifiers.org/kegg.disease:H01388 NANDO:2200286 http://nanbyodata.jp/ontology/NANDO_2200286 parent H01439 NANDO:2200286 H01439 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィリアムズ症候群 Williams-Beuren syndrome https://identifiers.org/kegg.disease:H01439 NANDO:2200315 http://nanbyodata.jp/ontology/NANDO_2200315 parent H01483 NANDO:2200315 H01483 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先端巨大症 Acromegaly https://identifiers.org/kegg.disease:H01483 NANDO:2200314 http://nanbyodata.jp/ontology/NANDO_2200314 parent H01618 NANDO:2200314 H01618 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性巨人症 Pituitary gigantism https://identifiers.org/kegg.disease:H01618 NANDO:2200298 http://nanbyodata.jp/ontology/NANDO_2200298 parent H01621 NANDO:2200298 H01621 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺動脈性肺高血圧症 Pulmonary arterial hypertension https://identifiers.org/kegg.disease:H01621 NANDO:2200264 http://nanbyodata.jp/ontology/NANDO_2200264 parent H01630 NANDO:2200264 H01630 http://www.geneontology.org/formats/oboInOwl#hasDbXref 動脈管開存症 Patent ductus arteriosus https://identifiers.org/kegg.disease:H01630 NANDO:2200247 http://nanbyodata.jp/ontology/NANDO_2200247 parent H01632 NANDO:2200247 H01632 http://www.geneontology.org/formats/oboInOwl#hasDbXref 狭心症 Angina pectoris https://identifiers.org/kegg.disease:H01632 NANDO:2200329 http://nanbyodata.jp/ontology/NANDO_2200329 parent H01645 NANDO:2200329 H01645 http://www.geneontology.org/formats/oboInOwl#hasDbXref 甲状腺機能亢進症 Hyperthyroidism https://identifiers.org/kegg.disease:H01645 H01645 NANDO:2200329 H01645 http://www.geneontology.org/formats/oboInOwl#hasDbXref 甲状腺中毒症 Hyperthyroidism https://identifiers.org/kegg.disease:H01645 H01645 NANDO:2200329 H01645 http://www.geneontology.org/formats/oboInOwl#hasDbXref 甲状腺機能亢進症 Thyrotoxicosis https://identifiers.org/kegg.disease:H01645 H01645 NANDO:2200329 H01645 http://www.geneontology.org/formats/oboInOwl#hasDbXref 甲状腺中毒症 Thyrotoxicosis https://identifiers.org/kegg.disease:H01645 NANDO:2200248 http://nanbyodata.jp/ontology/NANDO_2200248 parent H01730 NANDO:2200248 H01730 http://www.geneontology.org/formats/oboInOwl#hasDbXref 心筋梗塞 Myocardial infarction https://identifiers.org/kegg.disease:H01730 NANDO:2200261 http://nanbyodata.jp/ontology/NANDO_2200261 parent H01736 NANDO:2200261 H01736 http://www.geneontology.org/formats/oboInOwl#hasDbXref 総動脈幹遺残症 Persistent truncus arteriosus https://identifiers.org/kegg.disease:H01736 NANDO:2200310 http://nanbyodata.jp/ontology/NANDO_2200310 parent H01764 NANDO:2200310 H01764 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多脾症候群 Polysplenia syndrome https://identifiers.org/kegg.disease:H01764 NANDO:2200260 http://nanbyodata.jp/ontology/NANDO_2200260 parent H01783 NANDO:2200260 H01783 http://www.geneontology.org/formats/oboInOwl#hasDbXref エプスタイン病 Ebstein anomaly https://identifiers.org/kegg.disease:H01783 NANDO:2200251 http://nanbyodata.jp/ontology/NANDO_2200251 parent H01785 NANDO:2200251 H01785 http://www.geneontology.org/formats/oboInOwl#hasDbXref 三尖弁閉鎖症 Tricuspid atresia https://identifiers.org/kegg.disease:H01785 NANDO:2200250 http://nanbyodata.jp/ontology/NANDO_2200250 parent H01787 NANDO:2200250 H01787 http://www.geneontology.org/formats/oboInOwl#hasDbXref 単心室症 Univentricular heart https://identifiers.org/kegg.disease:H01787 NANDO:2200253 http://nanbyodata.jp/ontology/NANDO_2200253 parent H01802 NANDO:2200253 H01802 http://www.geneontology.org/formats/oboInOwl#hasDbXref 心室中隔欠損を伴わない肺動脈閉鎖症 Pulmonary atresia with intact ventricular septum https://identifiers.org/kegg.disease:H01802 NANDO:2200252 http://nanbyodata.jp/ontology/NANDO_2200252 parent H01803 NANDO:2200252 H01803 http://www.geneontology.org/formats/oboInOwl#hasDbXref 心室中隔欠損を伴う肺動脈閉鎖症 Pulmonary atresia with ventricular septal defect https://identifiers.org/kegg.disease:H01803 NANDO:2200345 http://nanbyodata.jp/ontology/NANDO_2200345 parent H01862 NANDO:2200345 H01862 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副甲状腺機能低下症 Hypoparathyroidism https://identifiers.org/kegg.disease:H01862 NANDO:2200209 http://nanbyodata.jp/ontology/NANDO_2200209 parent H01873 NANDO:2200209 H01873 http://www.geneontology.org/formats/oboInOwl#hasDbXref 閉塞性細気管支炎 Bronchiolitis obliterans https://identifiers.org/kegg.disease:H01873 H01873 NANDO:2200209 H01873 http://www.geneontology.org/formats/oboInOwl#hasDbXref 閉塞性細気管支炎 Obliterative bronchiolitis https://identifiers.org/kegg.disease:H01873 NANDO:2200270 http://nanbyodata.jp/ontology/NANDO_2200270 parent H01926 NANDO:2200270 H01926 http://www.geneontology.org/formats/oboInOwl#hasDbXref 心室中隔欠損症 Ventricular septal defect https://identifiers.org/kegg.disease:H01926 NANDO:2200321 http://nanbyodata.jp/ontology/NANDO_2200321 parent H02037 NANDO:2200321 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 成長ホルモン不応性症候群 Growth hormone insensitivity syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2200321 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラロン症候群 Growth hormone insensitivity syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2200321 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性低身長症 II型 Growth hormone insensitivity syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2200321 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 成長ホルモン不応性症候群 Laron syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2200321 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラロン症候群 Laron syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2200321 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性低身長症 II型 Laron syndrome https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2200321 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 成長ホルモン不応性症候群 Pituitary dwarfism II https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2200321 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラロン症候群 Pituitary dwarfism II https://identifiers.org/kegg.disease:H02037 H02037 NANDO:2200321 H02037 http://www.geneontology.org/formats/oboInOwl#hasDbXref 下垂体性低身長症 II型 Pituitary dwarfism II https://identifiers.org/kegg.disease:H02037 NANDO:2200291 http://nanbyodata.jp/ontology/NANDO_2200291 parent H02601 NANDO:2200291 H02601 http://www.geneontology.org/formats/oboInOwl#hasDbXref 左肺動脈右肺動脈起始症 Vascular sling https://identifiers.org/kegg.disease:H02601 H02601 NANDO:2200291 H02601 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺動脈スリング Vascular sling https://identifiers.org/kegg.disease:H02601 H02601 NANDO:2200291 H02601 http://www.geneontology.org/formats/oboInOwl#hasDbXref 左肺動脈右肺動脈起始症 Pulmonary arterial sling https://identifiers.org/kegg.disease:H02601 H02601 NANDO:2200291 H02601 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肺動脈スリング Pulmonary arterial sling https://identifiers.org/kegg.disease:H02601 NANDO:2200416 http://nanbyodata.jp/ontology/NANDO_2200416 parent H00080 NANDO:2200416 H00080 http://www.geneontology.org/formats/oboInOwl#hasDbXref 全身性エリテマトーデス Systemic lupus erythematosus https://identifiers.org/kegg.disease:H00080 NANDO:2200363 http://nanbyodata.jp/ontology/NANDO_2200363 parent H00242 NANDO:2200363 H00242 http://www.geneontology.org/formats/oboInOwl#hasDbXref リドル症候群 Liddle syndrome https://identifiers.org/kegg.disease:H00242 NANDO:2200382 http://nanbyodata.jp/ontology/NANDO_2200382 parent H00255 NANDO:2200382 H00255 http://www.geneontology.org/formats/oboInOwl#hasDbXref 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism https://identifiers.org/kegg.disease:H00255 NANDO:2200356 http://nanbyodata.jp/ontology/NANDO_2200356 parent H00256 NANDO:2200356 H00256 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副腎皮質刺激ホルモン不応症 Familial glucocorticoid deficiency https://identifiers.org/kegg.disease:H00256 H00256 NANDO:2200356 H00256 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性糖質コルチコイド欠損症 Familial glucocorticoid deficiency https://identifiers.org/kegg.disease:H00256 NANDO:2200365 http://nanbyodata.jp/ontology/NANDO_2200365 parent H00258 NANDO:2200365 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルドステロン合成酵素欠損症 Aldosterone synthase deficiency https://identifiers.org/kegg.disease:H00258 H00258 NANDO:2200365 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎皮質酵素欠損症 Aldosterone synthase deficiency https://identifiers.org/kegg.disease:H00258 H00258 NANDO:2200365 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルドステロン合成酵素欠損症 Corticosterone methyloxidase type I deficiency https://identifiers.org/kegg.disease:H00258 H00258 NANDO:2200365 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎皮質酵素欠損症 Corticosterone methyloxidase type I deficiency https://identifiers.org/kegg.disease:H00258 H00258 NANDO:2200365 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルドステロン合成酵素欠損症 Corticosterone methyloxidase type II deficiency https://identifiers.org/kegg.disease:H00258 H00258 NANDO:2200365 H00258 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎皮質酵素欠損症 Corticosterone methyloxidase type II deficiency https://identifiers.org/kegg.disease:H00258 NANDO:2200362 http://nanbyodata.jp/ontology/NANDO_2200362 parent H00259 NANDO:2200362 H00259 http://www.geneontology.org/formats/oboInOwl#hasDbXref AME 症候群 Apparent mineralocorticoid excess syndrome https://identifiers.org/kegg.disease:H00259 H00259 NANDO:2200362 H00259 http://www.geneontology.org/formats/oboInOwl#hasDbXref 11β-ヒドロキシステロイドデヒドロゲナーゼ欠損症 Apparent mineralocorticoid excess syndrome https://identifiers.org/kegg.disease:H00259 H00259 NANDO:2200362 H00259 http://www.geneontology.org/formats/oboInOwl#hasDbXref AME 症候群 11-beta-ketoreductase deficiency https://identifiers.org/kegg.disease:H00259 H00259 NANDO:2200362 H00259 http://www.geneontology.org/formats/oboInOwl#hasDbXref 11β-ヒドロキシステロイドデヒドロゲナーゼ欠損症 11-beta-ketoreductase deficiency https://identifiers.org/kegg.disease:H00259 NANDO:2200432 http://nanbyodata.jp/ontology/NANDO_2200432 parent H00282 NANDO:2200432 H00282 http://www.geneontology.org/formats/oboInOwl#hasDbXref クリオピリン関連周期熱症候群 Cryopyrin associated periodic syndrome https://identifiers.org/kegg.disease:H00282 NANDO:2200434 http://nanbyodata.jp/ontology/NANDO_2200434 parent H00285 NANDO:2200434 H00285 http://www.geneontology.org/formats/oboInOwl#hasDbXref ブラウ症候群 Blau syndrome https://identifiers.org/kegg.disease:H00285 NANDO:2200437 http://nanbyodata.jp/ontology/NANDO_2200437 parent H00287 NANDO:2200437 H00287 http://www.geneontology.org/formats/oboInOwl#hasDbXref 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome https://identifiers.org/kegg.disease:H00287 NANDO:2200431 http://nanbyodata.jp/ontology/NANDO_2200431 parent H00288 NANDO:2200431 H00288 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性地中海熱 Familial Mediterranean fever https://identifiers.org/kegg.disease:H00288 H00288 NANDO:2200431 H00288 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性地中海熱 Familial hereditary periodic fever syndromes https://identifiers.org/kegg.disease:H00288 NANDO:2200460 http://nanbyodata.jp/ontology/NANDO_2200460 parent H00408 NANDO:2200460 H00408 http://www.geneontology.org/formats/oboInOwl#hasDbXref 1型糖尿病 Type 1 diabetes mellitus https://identifiers.org/kegg.disease:H00408 NANDO:2200461 http://nanbyodata.jp/ontology/NANDO_2200461 parent H00409 NANDO:2200461 H00409 http://www.geneontology.org/formats/oboInOwl#hasDbXref 2型糖尿病 Type 2 diabetes mellitus https://identifiers.org/kegg.disease:H00409 NANDO:2200414 http://nanbyodata.jp/ontology/NANDO_2200414 parent H00418 NANDO:2200414 H00418 http://www.geneontology.org/formats/oboInOwl#hasDbXref バルデ・ビードル症候群 Bardet-Biedl syndrome https://identifiers.org/kegg.disease:H00418 NANDO:2200411 http://nanbyodata.jp/ontology/NANDO_2200411 parent H00478 NANDO:2200411 H00478 http://www.geneontology.org/formats/oboInOwl#hasDbXref プラダー・ウィリー症候群 Prader-Willi syndrome https://identifiers.org/kegg.disease:H00478 NANDO:2200412 http://nanbyodata.jp/ontology/NANDO_2200412 parent H00501 NANDO:2200412 H00501 http://www.geneontology.org/formats/oboInOwl#hasDbXref マッキューン・オルブライト症候群 McCune-Albright syndrome https://identifiers.org/kegg.disease:H00501 H00501 NANDO:2200412 H00501 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多骨性線維性骨異形成症 McCune-Albright syndrome https://identifiers.org/kegg.disease:H00501 H00501 NANDO:2200412 H00501 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルブライト遺伝性骨ジストロフィー McCune-Albright syndrome https://identifiers.org/kegg.disease:H00501 H00501 NANDO:2200412 H00501 http://www.geneontology.org/formats/oboInOwl#hasDbXref マッキューン・オルブライト症候群 Albright hereditary osteodystrophy https://identifiers.org/kegg.disease:H00501 H00501 NANDO:2200412 H00501 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多骨性線維性骨異形成症 Albright hereditary osteodystrophy https://identifiers.org/kegg.disease:H00501 H00501 NANDO:2200412 H00501 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルブライト遺伝性骨ジストロフィー Albright hereditary osteodystrophy https://identifiers.org/kegg.disease:H00501 H00501 NANDO:2200412 H00501 http://www.geneontology.org/formats/oboInOwl#hasDbXref マッキューン・オルブライト症候群 Fibrous dysplasia, polyostotic https://identifiers.org/kegg.disease:H00501 H00501 NANDO:2200412 H00501 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多骨性線維性骨異形成症 Fibrous dysplasia, polyostotic https://identifiers.org/kegg.disease:H00501 H00501 NANDO:2200412 H00501 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルブライト遺伝性骨ジストロフィー Fibrous dysplasia, polyostotic https://identifiers.org/kegg.disease:H00501 NANDO:2200384 http://nanbyodata.jp/ontology/NANDO_2200384 parent H00599 NANDO:2200384 H00599 http://www.geneontology.org/formats/oboInOwl#hasDbXref 卵巣形成不全 Ovarian dysgenesis https://identifiers.org/kegg.disease:H00599 H00599 NANDO:2200384 H00599 http://www.geneontology.org/formats/oboInOwl#hasDbXref 46,XX 性腺形成不全症 Ovarian dysgenesis https://identifiers.org/kegg.disease:H00599 H00599 NANDO:2200384 H00599 http://www.geneontology.org/formats/oboInOwl#hasDbXref 卵巣形成不全 46,XX gonadal dysgenesis https://identifiers.org/kegg.disease:H00599 H00599 NANDO:2200384 H00599 http://www.geneontology.org/formats/oboInOwl#hasDbXref 46,XX 性腺形成不全症 46,XX gonadal dysgenesis https://identifiers.org/kegg.disease:H00599 NANDO:2200433 http://nanbyodata.jp/ontology/NANDO_2200433 parent H00912 NANDO:2200433 H00912 http://www.geneontology.org/formats/oboInOwl#hasDbXref TNF受容体関連周期性症候群 Familial periodic fever https://identifiers.org/kegg.disease:H00912 H00912 NANDO:2200433 H00912 http://www.geneontology.org/formats/oboInOwl#hasDbXref TNF受容体関連周期性症候群 Tumor necrosis factor receptor-associated periodic syndrome https://identifiers.org/kegg.disease:H00912 NANDO:2200438 http://nanbyodata.jp/ontology/NANDO_2200438 parent H01117 NANDO:2200438 H01117 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性再発性多発性骨髄炎 Chronic recurrent multifocal osteomyelitis https://identifiers.org/kegg.disease:H01117 H01117 NANDO:2200438 H01117 http://www.geneontology.org/formats/oboInOwl#hasDbXref Majeed 症候群 Chronic recurrent multifocal osteomyelitis https://identifiers.org/kegg.disease:H01117 H01117 NANDO:2200438 H01117 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性再発性多発性骨髄炎 Majeed syndrome https://identifiers.org/kegg.disease:H01117 H01117 NANDO:2200438 H01117 http://www.geneontology.org/formats/oboInOwl#hasDbXref Majeed 症候群 Majeed syndrome https://identifiers.org/kegg.disease:H01117 NANDO:2200401 http://nanbyodata.jp/ontology/NANDO_2200401 parent H01143 NANDO:2200401 H01143 http://www.geneontology.org/formats/oboInOwl#hasDbXref ビタミンD依存性くる病 Vitamin D-dependent rickets https://identifiers.org/kegg.disease:H01143 NANDO:2200427 http://nanbyodata.jp/ontology/NANDO_2200427 parent H01468 NANDO:2200427 H01468 http://www.geneontology.org/formats/oboInOwl#hasDbXref 好酸球性多発血管炎性肉芽腫症 Eosinophilic granulomatosis with polyangiitis https://identifiers.org/kegg.disease:H01468 H01468 NANDO:2200427 H01468 http://www.geneontology.org/formats/oboInOwl#hasDbXref チャーグストラウス症候群 Eosinophilic granulomatosis with polyangiitis https://identifiers.org/kegg.disease:H01468 H01468 NANDO:2200427 H01468 http://www.geneontology.org/formats/oboInOwl#hasDbXref 好酸球性多発血管炎性肉芽腫症 Churg-Strauss syndrome https://identifiers.org/kegg.disease:H01468 H01468 NANDO:2200427 H01468 http://www.geneontology.org/formats/oboInOwl#hasDbXref チャーグストラウス症候群 Churg-Strauss syndrome https://identifiers.org/kegg.disease:H01468 NANDO:2200404 http://nanbyodata.jp/ontology/NANDO_2200404 parent H01475 NANDO:2200404 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪異栄養症 Lipodystrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:2200404 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪萎縮症 Lipodystrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:2200404 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref リポジストロフィー Lipodystrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:2200404 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪異栄養症 Lipoatrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:2200404 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脂肪萎縮症 Lipoatrophy https://identifiers.org/kegg.disease:H01475 H01475 NANDO:2200404 H01475 http://www.geneontology.org/formats/oboInOwl#hasDbXref リポジストロフィー Lipoatrophy https://identifiers.org/kegg.disease:H01475 NANDO:2200422 http://nanbyodata.jp/ontology/NANDO_2200422 parent H01476 NANDO:2200422 H01476 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベーチェット病 Behcet disease https://identifiers.org/kegg.disease:H01476 H01476 NANDO:2200422 H01476 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベーチェット病 Behcet syndrome https://identifiers.org/kegg.disease:H01476 NANDO:2200429 http://nanbyodata.jp/ontology/NANDO_2200429 parent H01492 NANDO:2200429 H01492 http://www.geneontology.org/formats/oboInOwl#hasDbXref 全身性強皮症 Systemic scleroderma https://identifiers.org/kegg.disease:H01492 H01492 NANDO:2200429 H01492 http://www.geneontology.org/formats/oboInOwl#hasDbXref 全身性強皮症 Systemic sclerosis https://identifiers.org/kegg.disease:H01492 NANDO:2200420 http://nanbyodata.jp/ontology/NANDO_2200420 parent H01502 NANDO:2200420 H01502 http://www.geneontology.org/formats/oboInOwl#hasDbXref シェーグレン症候群 Sjogren syndrome https://identifiers.org/kegg.disease:H01502 NANDO:2200360 http://nanbyodata.jp/ontology/NANDO_2200360 parent H01598 NANDO:2200360 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref アジソン病 Addison disease https://identifiers.org/kegg.disease:H01598 H01598 NANDO:2200360 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副腎機能低下症 Addison disease https://identifiers.org/kegg.disease:H01598 H01598 NANDO:2200360 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性副腎機能不全 Addison disease https://identifiers.org/kegg.disease:H01598 H01598 NANDO:2200360 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref アジソン病 Hypoadrenocorticism https://identifiers.org/kegg.disease:H01598 H01598 NANDO:2200360 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副腎機能低下症 Hypoadrenocorticism https://identifiers.org/kegg.disease:H01598 H01598 NANDO:2200360 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性副腎機能不全 Hypoadrenocorticism https://identifiers.org/kegg.disease:H01598 H01598 NANDO:2200360 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref アジソン病 Primary adrenal insufficiency https://identifiers.org/kegg.disease:H01598 H01598 NANDO:2200360 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副腎機能低下症 Primary adrenal insufficiency https://identifiers.org/kegg.disease:H01598 H01598 NANDO:2200360 H01598 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性副腎機能不全 Primary adrenal insufficiency https://identifiers.org/kegg.disease:H01598 NANDO:2200417 http://nanbyodata.jp/ontology/NANDO_2200417 parent H01604 NANDO:2200417 H01604 http://www.geneontology.org/formats/oboInOwl#hasDbXref 皮膚筋炎/多発性筋炎 Polymyositis and dermatomyositis https://identifiers.org/kegg.disease:H01604 NANDO:2200424 http://nanbyodata.jp/ontology/NANDO_2200424 parent H01655 NANDO:2200424 H01655 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウェゲナー肉芽腫症 Granulomatosis with polyangiitis https://identifiers.org/kegg.disease:H01655 H01655 NANDO:2200424 H01655 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis https://identifiers.org/kegg.disease:H01655 H01655 NANDO:2200424 H01655 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウェゲナー肉芽腫症 Wegener granulomatosis https://identifiers.org/kegg.disease:H01655 H01655 NANDO:2200424 H01655 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発血管炎性肉芽腫症 Wegener granulomatosis https://identifiers.org/kegg.disease:H01655 NANDO:2200426 http://nanbyodata.jp/ontology/NANDO_2200426 parent H01658 NANDO:2200426 H01658 http://www.geneontology.org/formats/oboInOwl#hasDbXref 顕微鏡的多発血管炎 Microscopic polyangiitis https://identifiers.org/kegg.disease:H01658 NANDO:2200415 http://nanbyodata.jp/ontology/NANDO_2200415 parent H01672 NANDO:2200415 H01672 http://www.geneontology.org/formats/oboInOwl#hasDbXref 若年性特発性関節炎 Juvenile idiopathic arthritis https://identifiers.org/kegg.disease:H01672 NANDO:2200421 http://nanbyodata.jp/ontology/NANDO_2200421 parent H01697 NANDO:2200421 H01697 http://www.geneontology.org/formats/oboInOwl#hasDbXref 抗リン脂質抗体症候群 Antiphospholipid syndrome https://identifiers.org/kegg.disease:H01697 NANDO:2200430 http://nanbyodata.jp/ontology/NANDO_2200430 parent H01710 NANDO:2200430 H01710 http://www.geneontology.org/formats/oboInOwl#hasDbXref 混合性結合組織病 Mixed connective tissue disease https://identifiers.org/kegg.disease:H01710 NANDO:2200413 http://nanbyodata.jp/ontology/NANDO_2200413 parent H01738 NANDO:2200413 H01738 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヌーナン症候群 Noonan syndrome https://identifiers.org/kegg.disease:H01738 NANDO:2200409 http://nanbyodata.jp/ontology/NANDO_2200409 parent H01739 NANDO:2200409 H01739 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多嚢胞性卵巣症候群 Polycystic ovary syndrome https://identifiers.org/kegg.disease:H01739 NANDO:2200442 http://nanbyodata.jp/ontology/NANDO_2200442 parent H01743 NANDO:2200442 H01743 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation https://identifiers.org/kegg.disease:H01743 NANDO:2200428 http://nanbyodata.jp/ontology/NANDO_2200428 parent H01758 NANDO:2200428 H01758 http://www.geneontology.org/formats/oboInOwl#hasDbXref 再発性多発軟骨炎 Relapsing polychondritis https://identifiers.org/kegg.disease:H01758 NANDO:2200357 http://nanbyodata.jp/ontology/NANDO_2200357 parent H01772 NANDO:2200357 H01772 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎低形成症 Adrenal hypoplasia, congenital https://identifiers.org/kegg.disease:H01772 H01772 NANDO:2200357 H01772 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖性アジソン病 Adrenal hypoplasia, congenital https://identifiers.org/kegg.disease:H01772 H01772 NANDO:2200357 H01772 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性副腎低形成症 X-linked addison disease https://identifiers.org/kegg.disease:H01772 H01772 NANDO:2200357 H01772 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖性アジソン病 X-linked addison disease https://identifiers.org/kegg.disease:H01772 NANDO:2200378 http://nanbyodata.jp/ontology/NANDO_2200378 parent H02019 NANDO:2200378 H02019 http://www.geneontology.org/formats/oboInOwl#hasDbXref ゴナドトロピン非依存性思春期早発症 Familial male-limited precocious puberty https://identifiers.org/kegg.disease:H02019 H02019 NANDO:2200378 H02019 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性男性思春期早発症 Familial male-limited precocious puberty https://identifiers.org/kegg.disease:H02019 H02019 NANDO:2200378 H02019 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性精巣中毒症 Familial male-limited precocious puberty https://identifiers.org/kegg.disease:H02019 H02019 NANDO:2200378 H02019 http://www.geneontology.org/formats/oboInOwl#hasDbXref ゴナドトロピン非依存性思春期早発症 Familial testotoxicosis https://identifiers.org/kegg.disease:H02019 H02019 NANDO:2200378 H02019 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性男性思春期早発症 Familial testotoxicosis https://identifiers.org/kegg.disease:H02019 H02019 NANDO:2200378 H02019 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性精巣中毒症 Familial testotoxicosis https://identifiers.org/kegg.disease:H02019 H02019 NANDO:2200378 H02019 http://www.geneontology.org/formats/oboInOwl#hasDbXref ゴナドトロピン非依存性思春期早発症 Gonadotropin-independent familial sexual precocity https://identifiers.org/kegg.disease:H02019 H02019 NANDO:2200378 H02019 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性男性思春期早発症 Gonadotropin-independent familial sexual precocity https://identifiers.org/kegg.disease:H02019 H02019 NANDO:2200378 H02019 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性精巣中毒症 Gonadotropin-independent familial sexual precocity https://identifiers.org/kegg.disease:H02019 NANDO:2200391 http://nanbyodata.jp/ontology/NANDO_2200391 parent H02177 NANDO:2200391 H02177 http://www.geneontology.org/formats/oboInOwl#hasDbXref アンドロゲン不応症 Androgen insensitivity syndrome https://identifiers.org/kegg.disease:H02177 NANDO:2200518 http://nanbyodata.jp/ontology/NANDO_2200518 parent H00072 NANDO:2200518 H00072 http://www.geneontology.org/formats/oboInOwl#hasDbXref ピルビン酸脱水素酵素複合体欠損症 Pyruvate dehydrogenase complex deficiency https://identifiers.org/kegg.disease:H00072 NANDO:2200519 http://nanbyodata.jp/ontology/NANDO_2200519 parent H00073 NANDO:2200519 H00073 http://www.geneontology.org/formats/oboInOwl#hasDbXref ピルビン酸カルボキシラーゼ欠損症 Pyruvate carboxylase deficiency https://identifiers.org/kegg.disease:H00073 NANDO:2200503 http://nanbyodata.jp/ontology/NANDO_2200503 parent H00117 NANDO:2200503 H00117 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性高シュウ酸尿症 Primary hyperoxaluria https://identifiers.org/kegg.disease:H00117 NANDO:2200504 http://nanbyodata.jp/ontology/NANDO_2200504 parent H00163 NANDO:2200504 H00163 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルカプトン尿症 Alkaptonuria https://identifiers.org/kegg.disease:H00163 NANDO:2200467 http://nanbyodata.jp/ontology/NANDO_2200467 parent H00167 NANDO:2200467 H00167 http://www.geneontology.org/formats/oboInOwl#hasDbXref フェニルケトン尿症 Hyperphenylalaninemia https://identifiers.org/kegg.disease:H00167 H00167 NANDO:2200467 H00167 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高フェニルアラニン血症 Hyperphenylalaninemia https://identifiers.org/kegg.disease:H00167 H00167 NANDO:2200467 H00167 http://www.geneontology.org/formats/oboInOwl#hasDbXref フェニルケトン尿症 Phenylketonuria https://identifiers.org/kegg.disease:H00167 H00167 NANDO:2200467 H00167 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高フェニルアラニン血症 Phenylketonuria https://identifiers.org/kegg.disease:H00167 NANDO:2200473 http://nanbyodata.jp/ontology/NANDO_2200473 parent H00172 NANDO:2200473 H00172 http://www.geneontology.org/formats/oboInOwl#hasDbXref メープルシロップ尿症 Maple syrup urine disease https://identifiers.org/kegg.disease:H00172 NANDO:2200494 http://nanbyodata.jp/ontology/NANDO_2200494 parent H00173 NANDO:2200494 H00173 http://www.geneontology.org/formats/oboInOwl#hasDbXref イソ吉草酸血症 Isovaleric acidemia https://identifiers.org/kegg.disease:H00173 NANDO:2200491 http://nanbyodata.jp/ontology/NANDO_2200491 parent H00174 NANDO:2200491 H00174 http://www.geneontology.org/formats/oboInOwl#hasDbXref メチルマロン酸血症 Methylmalonic acidemia https://identifiers.org/kegg.disease:H00174 H00174 NANDO:2200491 H00174 http://www.geneontology.org/formats/oboInOwl#hasDbXref メチルマロン酸尿症 Methylmalonic acidemia https://identifiers.org/kegg.disease:H00174 H00174 NANDO:2200491 H00174 http://www.geneontology.org/formats/oboInOwl#hasDbXref メチルマロン酸血症 Methylmalonic aciduria https://identifiers.org/kegg.disease:H00174 H00174 NANDO:2200491 H00174 http://www.geneontology.org/formats/oboInOwl#hasDbXref メチルマロン酸尿症 Methylmalonic aciduria https://identifiers.org/kegg.disease:H00174 NANDO:2200492 http://nanbyodata.jp/ontology/NANDO_2200492 parent H00175 NANDO:2200492 H00175 http://www.geneontology.org/formats/oboInOwl#hasDbXref プロピオン酸血症 Propionic acidemia https://identifiers.org/kegg.disease:H00175 NANDO:2200500 http://nanbyodata.jp/ontology/NANDO_2200500 parent H00180 NANDO:2200500 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホロカルボキシラーゼ合成酵素欠損症 Holocarboxylase synthetase deficiency https://identifiers.org/kegg.disease:H00180 H00180 NANDO:2200500 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref 複合カルボキシラーゼ欠損症 Holocarboxylase synthetase deficiency https://identifiers.org/kegg.disease:H00180 H00180 NANDO:2200500 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホロカルボキシラーゼ合成酵素欠損症 Multiple carboxylase deficiency https://identifiers.org/kegg.disease:H00180 H00180 NANDO:2200500 H00180 http://www.geneontology.org/formats/oboInOwl#hasDbXref 複合カルボキシラーゼ欠損症 Multiple carboxylase deficiency https://identifiers.org/kegg.disease:H00180 NANDO:2200474 http://nanbyodata.jp/ontology/NANDO_2200474 parent H00183 NANDO:2200474 H00183 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホモシスチン尿症 Homocystinuria https://identifiers.org/kegg.disease:H00183 NANDO:2200475 http://nanbyodata.jp/ontology/NANDO_2200475 parent H00184 NANDO:2200475 H00184 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高メチオニン血症 Hypermethioninemia https://identifiers.org/kegg.disease:H00184 NANDO:2200482 http://nanbyodata.jp/ontology/NANDO_2200482 parent H00186 NANDO:2200482 H00186 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高アルギニン血症 Hyperargininemia https://identifiers.org/kegg.disease:H00186 NANDO:2200479 http://nanbyodata.jp/ontology/NANDO_2200479 parent H00187 NANDO:2200479 H00187 http://www.geneontology.org/formats/oboInOwl#hasDbXref オルニチントランスカルバミラーゼ欠損症 Ornithine transcarbamylase deficiency https://identifiers.org/kegg.disease:H00187 NANDO:2200484 http://nanbyodata.jp/ontology/NANDO_2200484 parent H00189 NANDO:2200484 H00189 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高オルニチン血症 Gyrate Atrophy https://identifiers.org/kegg.disease:H00189 H00189 NANDO:2200484 H00189 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高オルニチン血症 Ornithinaemia https://identifiers.org/kegg.disease:H00189 NANDO:2200471 http://nanbyodata.jp/ontology/NANDO_2200471 parent H00190 NANDO:2200471 H00190 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高プロリン血症 Hyperprolinemia https://identifiers.org/kegg.disease:H00190 NANDO:2200476 http://nanbyodata.jp/ontology/NANDO_2200476 parent H00191 NANDO:2200476 H00191 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非ケトーシス型高グリシン血症 Nonketotic hyperglycinemia https://identifiers.org/kegg.disease:H00191 H00191 NANDO:2200476 H00191 http://www.geneontology.org/formats/oboInOwl#hasDbXref グリシン脳症 Nonketotic hyperglycinemia https://identifiers.org/kegg.disease:H00191 H00191 NANDO:2200476 H00191 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非ケトーシス型高グリシン血症 Glycine encephalopathy (GCE) https://identifiers.org/kegg.disease:H00191 H00191 NANDO:2200476 H00191 http://www.geneontology.org/formats/oboInOwl#hasDbXref グリシン脳症 Glycine encephalopathy (GCE) https://identifiers.org/kegg.disease:H00191 NANDO:2200523 http://nanbyodata.jp/ontology/NANDO_2200523 parent H00469 NANDO:2200523 H00469 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミトコンドリア DNA 枯渇症候群 Mitochondrial DNA depletion syndrome https://identifiers.org/kegg.disease:H00469 NANDO:2200513 http://nanbyodata.jp/ontology/NANDO_2200513 parent H00488 NANDO:2200513 H00488 http://www.geneontology.org/formats/oboInOwl#hasDbXref ACADM 欠損症 MCAD deficiency https://identifiers.org/kegg.disease:H00488 H00488 NANDO:2200513 H00488 http://www.geneontology.org/formats/oboInOwl#hasDbXref MCAD 欠損症 MCAD deficiency https://identifiers.org/kegg.disease:H00488 H00488 NANDO:2200513 H00488 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中鎖アシル CoA デヒドロゲナーゼ欠損症 MCAD deficiency https://identifiers.org/kegg.disease:H00488 H00488 NANDO:2200513 H00488 http://www.geneontology.org/formats/oboInOwl#hasDbXref ACADM 欠損症 Medium-chain acyl-CoA dehydrogenase deficiency https://identifiers.org/kegg.disease:H00488 H00488 NANDO:2200513 H00488 http://www.geneontology.org/formats/oboInOwl#hasDbXref MCAD 欠損症 Medium-chain acyl-CoA dehydrogenase deficiency https://identifiers.org/kegg.disease:H00488 H00488 NANDO:2200513 H00488 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中鎖アシル CoA デヒドロゲナーゼ欠損症 Medium-chain acyl-CoA dehydrogenase deficiency https://identifiers.org/kegg.disease:H00488 H00488 NANDO:2200513 H00488 http://www.geneontology.org/formats/oboInOwl#hasDbXref ACADM 欠損症 ACADM deficiency https://identifiers.org/kegg.disease:H00488 H00488 NANDO:2200513 H00488 http://www.geneontology.org/formats/oboInOwl#hasDbXref MCAD 欠損症 ACADM deficiency https://identifiers.org/kegg.disease:H00488 H00488 NANDO:2200513 H00488 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中鎖アシル CoA デヒドロゲナーゼ欠損症 ACADM deficiency https://identifiers.org/kegg.disease:H00488 NANDO:2200506 http://nanbyodata.jp/ontology/NANDO_2200506 parent H00628 NANDO:2200506 H00628 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性胆汁酸代謝異常症 Congenital bile acid synthesis defect https://identifiers.org/kegg.disease:H00628 NANDO:2200496 http://nanbyodata.jp/ontology/NANDO_2200496 parent H00754 NANDO:2200496 H00754 http://www.geneontology.org/formats/oboInOwl#hasDbXref メチルグルタコン酸尿症 3-Methylglutaconic aciduria https://identifiers.org/kegg.disease:H00754 NANDO:2200487 http://nanbyodata.jp/ontology/NANDO_2200487 parent H00843 NANDO:2200487 H00843 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハートナップ病 Hartnup disorder https://identifiers.org/kegg.disease:H00843 NANDO:2200488 http://nanbyodata.jp/ontology/NANDO_2200488 parent H00899 NANDO:2200488 H00899 http://www.geneontology.org/formats/oboInOwl#hasDbXref リジン尿性蛋白不耐症 Lysinuric protein intolerance https://identifiers.org/kegg.disease:H00899 NANDO:2200489 http://nanbyodata.jp/ontology/NANDO_2200489 parent H00901 NANDO:2200489 H00901 http://www.geneontology.org/formats/oboInOwl#hasDbXref シスチン尿症 Cystinuria https://identifiers.org/kegg.disease:H00901 NANDO:2200481 http://nanbyodata.jp/ontology/NANDO_2200481 parent H01028 NANDO:2200481 H01028 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルギニノコハク酸尿症 Argininosuccinic aciduria https://identifiers.org/kegg.disease:H01028 H01028 NANDO:2200481 H01028 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルギニノコハク酸分解酵素欠損症 Argininosuccinic aciduria https://identifiers.org/kegg.disease:H01028 H01028 NANDO:2200481 H01028 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルギニノコハク酸尿症 Argininosuccinate lyase deficiency https://identifiers.org/kegg.disease:H01028 H01028 NANDO:2200481 H01028 http://www.geneontology.org/formats/oboInOwl#hasDbXref アルギニノコハク酸分解酵素欠損症 Argininosuccinate lyase deficiency https://identifiers.org/kegg.disease:H01028 NANDO:2200477 http://nanbyodata.jp/ontology/NANDO_2200477 parent H01032 NANDO:2200477 H01032 http://www.geneontology.org/formats/oboInOwl#hasDbXref NAGS欠損症 N-acetylglutamate synthase deficiency https://identifiers.org/kegg.disease:H01032 H01032 NANDO:2200477 H01032 http://www.geneontology.org/formats/oboInOwl#hasDbXref N-アセチルグルタミン酸合成酵素欠損症 N-acetylglutamate synthase deficiency https://identifiers.org/kegg.disease:H01032 NANDO:2200493 http://nanbyodata.jp/ontology/NANDO_2200493 parent H01076 NANDO:2200493 H01076 http://www.geneontology.org/formats/oboInOwl#hasDbXref β-ケトチオラーゼ欠損症 Beta-ketothiolase deficiency https://identifiers.org/kegg.disease:H01076 H01076 NANDO:2200493 H01076 http://www.geneontology.org/formats/oboInOwl#hasDbXref α-メチルアセト酢酸尿症 Beta-ketothiolase deficiency https://identifiers.org/kegg.disease:H01076 H01076 NANDO:2200493 H01076 http://www.geneontology.org/formats/oboInOwl#hasDbXref β-ケトチオラーゼ欠損症 Alpha-methylacetoacetic aciduria https://identifiers.org/kegg.disease:H01076 H01076 NANDO:2200493 H01076 http://www.geneontology.org/formats/oboInOwl#hasDbXref α-メチルアセト酢酸尿症 Alpha-methylacetoacetic aciduria https://identifiers.org/kegg.disease:H01076 NANDO:2200472 http://nanbyodata.jp/ontology/NANDO_2200472 parent H01119 NANDO:2200472 H01119 http://www.geneontology.org/formats/oboInOwl#hasDbXref プロリダーゼ欠損症 Prolidase deficiency https://identifiers.org/kegg.disease:H01119 NANDO:2200515 http://nanbyodata.jp/ontology/NANDO_2200515 parent H01352 NANDO:2200515 H01352 http://www.geneontology.org/formats/oboInOwl#hasDbXref 三頭酵素欠損症 Mitochondrial trifunctional protein deficiency https://identifiers.org/kegg.disease:H01352 NANDO:2200527 http://nanbyodata.jp/ontology/NANDO_2200527 parent H01354 NANDO:2200527 H01354 http://www.geneontology.org/formats/oboInOwl#hasDbXref リー症候群 Leigh syndrome https://identifiers.org/kegg.disease:H01354 NANDO:2200529 http://nanbyodata.jp/ontology/NANDO_2200529 parent H01355 NANDO:2200529 H01355 http://www.geneontology.org/formats/oboInOwl#hasDbXref カーンズ・セイアー症候群 Kearns-Sayre syndrome https://identifiers.org/kegg.disease:H01355 NANDO:2200526 http://nanbyodata.jp/ontology/NANDO_2200526 parent H01356 NANDO:2200526 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 赤色ぼろ線維・ミオクローヌスてんかん症候群 Fukuhara syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:2200526 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref MERRF 症候群 Fukuhara syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:2200526 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 福原病 Fukuhara syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:2200526 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 赤色ぼろ線維・ミオクローヌスてんかん症候群 MERRF syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:2200526 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref MERRF 症候群 MERRF syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:2200526 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 福原病 MERRF syndrome https://identifiers.org/kegg.disease:H01356 H01356 NANDO:2200526 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 赤色ぼろ線維・ミオクローヌスてんかん症候群 Myoclonic Epilepsy and Ragged-Red Fiber Disease https://identifiers.org/kegg.disease:H01356 H01356 NANDO:2200526 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref MERRF 症候群 Myoclonic Epilepsy and Ragged-Red Fiber Disease https://identifiers.org/kegg.disease:H01356 H01356 NANDO:2200526 H01356 http://www.geneontology.org/formats/oboInOwl#hasDbXref 福原病 Myoclonic Epilepsy and Ragged-Red Fiber Disease https://identifiers.org/kegg.disease:H01356 NANDO:2200514 http://nanbyodata.jp/ontology/NANDO_2200514 parent H01980 NANDO:2200514 H01980 http://www.geneontology.org/formats/oboInOwl#hasDbXref ACADS 欠損症 SCAD deficiency https://identifiers.org/kegg.disease:H01980 H01980 NANDO:2200514 H01980 http://www.geneontology.org/formats/oboInOwl#hasDbXref SCAD 欠損症 SCAD deficiency https://identifiers.org/kegg.disease:H01980 H01980 NANDO:2200514 H01980 http://www.geneontology.org/formats/oboInOwl#hasDbXref 短鎖アシルCoA デヒドロゲナーゼ欠損症 SCAD deficiency https://identifiers.org/kegg.disease:H01980 H01980 NANDO:2200514 H01980 http://www.geneontology.org/formats/oboInOwl#hasDbXref ACADS 欠損症 Short-chain acyl-CoA dehydrogenase deficiency https://identifiers.org/kegg.disease:H01980 H01980 NANDO:2200514 H01980 http://www.geneontology.org/formats/oboInOwl#hasDbXref SCAD 欠損症 Short-chain acyl-CoA dehydrogenase deficiency https://identifiers.org/kegg.disease:H01980 H01980 NANDO:2200514 H01980 http://www.geneontology.org/formats/oboInOwl#hasDbXref 短鎖アシルCoA デヒドロゲナーゼ欠損症 Short-chain acyl-CoA dehydrogenase deficiency https://identifiers.org/kegg.disease:H01980 H01980 NANDO:2200514 H01980 http://www.geneontology.org/formats/oboInOwl#hasDbXref ACADS 欠損症 ACADS deficiency https://identifiers.org/kegg.disease:H01980 H01980 NANDO:2200514 H01980 http://www.geneontology.org/formats/oboInOwl#hasDbXref SCAD 欠損症 ACADS deficiency https://identifiers.org/kegg.disease:H01980 H01980 NANDO:2200514 H01980 http://www.geneontology.org/formats/oboInOwl#hasDbXref 短鎖アシルCoA デヒドロゲナーゼ欠損症 ACADS deficiency https://identifiers.org/kegg.disease:H01980 NANDO:2200509 http://nanbyodata.jp/ontology/NANDO_2200509 parent H01981 NANDO:2200509 H01981 http://www.geneontology.org/formats/oboInOwl#hasDbXref カルニチンパルミトイルトランスフェラーゼ I 欠損症 Carnitine palmitoyltransferase I deficiency https://identifiers.org/kegg.disease:H01981 NANDO:2200510 http://nanbyodata.jp/ontology/NANDO_2200510 parent H01982 NANDO:2200510 H01982 http://www.geneontology.org/formats/oboInOwl#hasDbXref カルニチンパルミトイルトランスフェラーゼ II 欠損症 Carnitine palmitoyltransferase II deficiency https://identifiers.org/kegg.disease:H01982 NANDO:2200511 http://nanbyodata.jp/ontology/NANDO_2200511 parent H01983 NANDO:2200511 H01983 http://www.geneontology.org/formats/oboInOwl#hasDbXref カルニチン-アシルカルニチントランスロカーゼ欠損症 Carnitine-acylcarnitine translocase deficiency https://identifiers.org/kegg.disease:H01983 NANDO:2200520 http://nanbyodata.jp/ontology/NANDO_2200520 parent H02004 NANDO:2200520 H02004 http://www.geneontology.org/formats/oboInOwl#hasDbXref フマラーゼ欠損症 Fumarase deficiency https://identifiers.org/kegg.disease:H02004 H02004 NANDO:2200520 H02004 http://www.geneontology.org/formats/oboInOwl#hasDbXref フマル酸尿症 Fumarase deficiency https://identifiers.org/kegg.disease:H02004 H02004 NANDO:2200520 H02004 http://www.geneontology.org/formats/oboInOwl#hasDbXref フマラーゼ欠損症 Fumaric aciduria https://identifiers.org/kegg.disease:H02004 H02004 NANDO:2200520 H02004 http://www.geneontology.org/formats/oboInOwl#hasDbXref フマル酸尿症 Fumaric aciduria https://identifiers.org/kegg.disease:H02004 NANDO:2200532 http://nanbyodata.jp/ontology/NANDO_2200532 parent H02008 NANDO:2200532 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Classic galactosemia https://identifiers.org/kegg.disease:H02008 H02008 NANDO:2200532 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 古典型ガラクトース血症 Classic galactosemia https://identifiers.org/kegg.disease:H02008 H02008 NANDO:2200532 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトース血症 I 型 Classic galactosemia https://identifiers.org/kegg.disease:H02008 H02008 NANDO:2200532 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Galactose-1P uridylyltransferase deficiency https://identifiers.org/kegg.disease:H02008 H02008 NANDO:2200532 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 古典型ガラクトース血症 Galactose-1P uridylyltransferase deficiency https://identifiers.org/kegg.disease:H02008 H02008 NANDO:2200532 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトース血症 I 型 Galactose-1P uridylyltransferase deficiency https://identifiers.org/kegg.disease:H02008 H02008 NANDO:2200532 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Galactosemia type I https://identifiers.org/kegg.disease:H02008 H02008 NANDO:2200532 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref 古典型ガラクトース血症 Galactosemia type I https://identifiers.org/kegg.disease:H02008 H02008 NANDO:2200532 H02008 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトース血症 I 型 Galactosemia type I https://identifiers.org/kegg.disease:H02008 NANDO:2200533 http://nanbyodata.jp/ontology/NANDO_2200533 parent H02009 NANDO:2200533 H02009 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトキナーゼ欠損症 Galactokinase deficiency https://identifiers.org/kegg.disease:H02009 H02009 NANDO:2200533 H02009 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトース血症 II 型 Galactokinase deficiency https://identifiers.org/kegg.disease:H02009 H02009 NANDO:2200533 H02009 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトキナーゼ欠損症 Galactosemia II https://identifiers.org/kegg.disease:H02009 H02009 NANDO:2200533 H02009 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトース血症 II 型 Galactosemia II https://identifiers.org/kegg.disease:H02009 NANDO:2200535 http://nanbyodata.jp/ontology/NANDO_2200535 parent H00114 NANDO:2200535 H00114 http://www.geneontology.org/formats/oboInOwl#hasDbXref フルクトース-1,6-ビスホスファターゼ欠損症 Fructose-1,6-bisphosphatase deficiency https://identifiers.org/kegg.disease:H00114 NANDO:2200550 http://nanbyodata.jp/ontology/NANDO_2200550 parent H00123 NANDO:2200550 H00123 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 IV 型 Mucopolysaccharidosis type IV https://identifiers.org/kegg.disease:H00123 NANDO:2200562 http://nanbyodata.jp/ontology/NANDO_2200562 parent H00126 NANDO:2200562 H00126 http://www.geneontology.org/formats/oboInOwl#hasDbXref ゴーシェ病 Gaucher disease https://identifiers.org/kegg.disease:H00126 NANDO:2200560 http://nanbyodata.jp/ontology/NANDO_2200560 parent H00127 NANDO:2200560 H00127 http://www.geneontology.org/formats/oboInOwl#hasDbXref 異染性白質ジストロフィー Metachromatic leukodystrophy https://identifiers.org/kegg.disease:H00127 NANDO:2200547 http://nanbyodata.jp/ontology/NANDO_2200547 parent H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハーラー症候群 Scheie syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref シャイエ症候群 Scheie syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハーラー・シャイエ症候群 Scheie syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 I 型 Scheie syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハーラー症候群 Hurler syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref シャイエ症候群 Hurler syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハーラー・シャイエ症候群 Hurler syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 I 型 Hurler syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハーラー症候群 Mucopolysaccharidosis type I https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref シャイエ症候群 Mucopolysaccharidosis type I https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハーラー・シャイエ症候群 Mucopolysaccharidosis type I https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 I 型 Mucopolysaccharidosis type I https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハーラー症候群 Hurler-Scheie syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref シャイエ症候群 Hurler-Scheie syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハーラー・シャイエ症候群 Hurler-Scheie syndrome https://identifiers.org/kegg.disease:H00128 H00128 NANDO:2200547 H00128 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 I 型 Hurler-Scheie syndrome https://identifiers.org/kegg.disease:H00128 NANDO:2200548 http://nanbyodata.jp/ontology/NANDO_2200548 parent H00129 NANDO:2200548 H00129 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハンター症候群 Mucopolysaccharidosis type II https://identifiers.org/kegg.disease:H00129 H00129 NANDO:2200548 H00129 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 II 型 Mucopolysaccharidosis type II https://identifiers.org/kegg.disease:H00129 H00129 NANDO:2200548 H00129 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハンター症候群 Hunter syndrome https://identifiers.org/kegg.disease:H00129 H00129 NANDO:2200548 H00129 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 II 型 Hunter syndrome https://identifiers.org/kegg.disease:H00129 NANDO:2200549 http://nanbyodata.jp/ontology/NANDO_2200549 parent H00130 NANDO:2200549 H00130 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 III 型 Mucopolysaccharidosis type III https://identifiers.org/kegg.disease:H00130 NANDO:2200551 http://nanbyodata.jp/ontology/NANDO_2200551 parent H00131 NANDO:2200551 H00131 http://www.geneontology.org/formats/oboInOwl#hasDbXref マロトー・ラミー症候群 Mucopolysaccharidosis type VI https://identifiers.org/kegg.disease:H00131 H00131 NANDO:2200551 H00131 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 VI 型 Mucopolysaccharidosis type VI https://identifiers.org/kegg.disease:H00131 H00131 NANDO:2200551 H00131 http://www.geneontology.org/formats/oboInOwl#hasDbXref マロトー・ラミー症候群 Maroteaux-Lamy syndrome https://identifiers.org/kegg.disease:H00131 H00131 NANDO:2200551 H00131 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 VI 型 Maroteaux-Lamy syndrome https://identifiers.org/kegg.disease:H00131 NANDO:2200552 http://nanbyodata.jp/ontology/NANDO_2200552 parent H00132 NANDO:2200552 H00132 http://www.geneontology.org/formats/oboInOwl#hasDbXref スライ症候群 Mucopolysaccharidosis type VII https://identifiers.org/kegg.disease:H00132 H00132 NANDO:2200552 H00132 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 VII 型 Mucopolysaccharidosis type VII https://identifiers.org/kegg.disease:H00132 H00132 NANDO:2200552 H00132 http://www.geneontology.org/formats/oboInOwl#hasDbXref スライ症候群 Sly syndrome https://identifiers.org/kegg.disease:H00132 H00132 NANDO:2200552 H00132 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコ多糖症 VII 型 Sly syndrome https://identifiers.org/kegg.disease:H00132 NANDO:2200556 http://nanbyodata.jp/ontology/NANDO_2200556 parent H00142 NANDO:2200556 H00142 http://www.geneontology.org/formats/oboInOwl#hasDbXref シアリドーシス Sialidosis https://identifiers.org/kegg.disease:H00142 H00142 NANDO:2200556 H00142 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス 1 型 Sialidosis https://identifiers.org/kegg.disease:H00142 H00142 NANDO:2200556 H00142 http://www.geneontology.org/formats/oboInOwl#hasDbXref シアリドーシス Mucolipidosis I https://identifiers.org/kegg.disease:H00142 H00142 NANDO:2200556 H00142 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス 1 型 Mucolipidosis I https://identifiers.org/kegg.disease:H00142 NANDO:2200555 http://nanbyodata.jp/ontology/NANDO_2200555 parent H00145 NANDO:2200555 H00145 http://www.geneontology.org/formats/oboInOwl#hasDbXref アスパルチルグルコサミン尿症 Aspartylglucosaminuria https://identifiers.org/kegg.disease:H00145 NANDO:2200557 http://nanbyodata.jp/ontology/NANDO_2200557 parent H00276 NANDO:2200557 H00276 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトシアリドーシス Neuraminidase deficiency with beta-galactosidase deficiency https://identifiers.org/kegg.disease:H00276 H00276 NANDO:2200557 H00276 http://www.geneontology.org/formats/oboInOwl#hasDbXref ノイラミダーゼ欠損および β-ガラクトシダーゼ欠損症 Neuraminidase deficiency with beta-galactosidase deficiency https://identifiers.org/kegg.disease:H00276 H00276 NANDO:2200557 H00276 http://www.geneontology.org/formats/oboInOwl#hasDbXref ガラクトシアリドーシス Galactosialidosis https://identifiers.org/kegg.disease:H00276 H00276 NANDO:2200557 H00276 http://www.geneontology.org/formats/oboInOwl#hasDbXref ノイラミダーゼ欠損および β-ガラクトシダーゼ欠損症 Galactosialidosis https://identifiers.org/kegg.disease:H00276 NANDO:2200558 http://nanbyodata.jp/ontology/NANDO_2200558 parent H00281 NANDO:2200558 H00281 http://www.geneontology.org/formats/oboInOwl#hasDbXref GM1 ガングリオシドーシス GM1 gangliosidosis https://identifiers.org/kegg.disease:H00281 NANDO:2200545 http://nanbyodata.jp/ontology/NANDO_2200545 parent H00836 NANDO:2200545 H00836 http://www.geneontology.org/formats/oboInOwl#hasDbXref グルコーストランスポーター1欠損症 GLUT1 deficiency syndrome https://identifiers.org/kegg.disease:H00836 H00836 NANDO:2200545 H00836 http://www.geneontology.org/formats/oboInOwl#hasDbXref GLUT1欠損症候群 GLUT1 deficiency syndrome https://identifiers.org/kegg.disease:H00836 H00836 NANDO:2200545 H00836 http://www.geneontology.org/formats/oboInOwl#hasDbXref グルコーストランスポーター1欠損症 Glucose transport defect of the blood-brain barrier https://identifiers.org/kegg.disease:H00836 H00836 NANDO:2200545 H00836 http://www.geneontology.org/formats/oboInOwl#hasDbXref GLUT1欠損症候群 Glucose transport defect of the blood-brain barrier https://identifiers.org/kegg.disease:H00836 NANDO:2200538 http://nanbyodata.jp/ontology/NANDO_2200538 parent H01939 NANDO:2200538 H01939 http://www.geneontology.org/formats/oboInOwl#hasDbXref フォン・ギールケ病 Von Gierke disease https://identifiers.org/kegg.disease:H01939 H01939 NANDO:2200538 H01939 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 I 型 Von Gierke disease https://identifiers.org/kegg.disease:H01939 H01939 NANDO:2200538 H01939 http://www.geneontology.org/formats/oboInOwl#hasDbXref フォン・ギールケ病 Glycogen storage disease type I https://identifiers.org/kegg.disease:H01939 H01939 NANDO:2200538 H01939 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 I 型 Glycogen storage disease type I https://identifiers.org/kegg.disease:H01939 NANDO:2200539 http://nanbyodata.jp/ontology/NANDO_2200539 parent H01941 NANDO:2200539 H01941 http://www.geneontology.org/formats/oboInOwl#hasDbXref コーリ病 Forbes disease https://identifiers.org/kegg.disease:H01941 H01941 NANDO:2200539 H01941 http://www.geneontology.org/formats/oboInOwl#hasDbXref フォーブズ病 Forbes disease https://identifiers.org/kegg.disease:H01941 H01941 NANDO:2200539 H01941 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 III 型 Forbes disease https://identifiers.org/kegg.disease:H01941 H01941 NANDO:2200539 H01941 http://www.geneontology.org/formats/oboInOwl#hasDbXref コーリ病 Cori disease https://identifiers.org/kegg.disease:H01941 H01941 NANDO:2200539 H01941 http://www.geneontology.org/formats/oboInOwl#hasDbXref フォーブズ病 Cori disease https://identifiers.org/kegg.disease:H01941 H01941 NANDO:2200539 H01941 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 III 型 Cori disease https://identifiers.org/kegg.disease:H01941 H01941 NANDO:2200539 H01941 http://www.geneontology.org/formats/oboInOwl#hasDbXref コーリ病 Glycogen storage disease type III https://identifiers.org/kegg.disease:H01941 H01941 NANDO:2200539 H01941 http://www.geneontology.org/formats/oboInOwl#hasDbXref フォーブズ病 Glycogen storage disease type III https://identifiers.org/kegg.disease:H01941 H01941 NANDO:2200539 H01941 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 III 型 Glycogen storage disease type III https://identifiers.org/kegg.disease:H01941 NANDO:2200540 http://nanbyodata.jp/ontology/NANDO_2200540 parent H01942 NANDO:2200540 H01942 http://www.geneontology.org/formats/oboInOwl#hasDbXref アンダーセン病 Glycogen storage disease type IV https://identifiers.org/kegg.disease:H01942 H01942 NANDO:2200540 H01942 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 IV 型 Glycogen storage disease type IV https://identifiers.org/kegg.disease:H01942 H01942 NANDO:2200540 H01942 http://www.geneontology.org/formats/oboInOwl#hasDbXref アンダーセン病 Andersen disease https://identifiers.org/kegg.disease:H01942 H01942 NANDO:2200540 H01942 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 IV 型 Andersen disease https://identifiers.org/kegg.disease:H01942 NANDO:2200541 http://nanbyodata.jp/ontology/NANDO_2200541 parent H01943 NANDO:2200541 H01943 http://www.geneontology.org/formats/oboInOwl#hasDbXref マッカードル病 Glycogen storage disease type V https://identifiers.org/kegg.disease:H01943 H01943 NANDO:2200541 H01943 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 V 型 Glycogen storage disease type V https://identifiers.org/kegg.disease:H01943 H01943 NANDO:2200541 H01943 http://www.geneontology.org/formats/oboInOwl#hasDbXref マッカードル病 McArdle disease https://identifiers.org/kegg.disease:H01943 H01943 NANDO:2200541 H01943 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 V 型 McArdle disease https://identifiers.org/kegg.disease:H01943 NANDO:2200542 http://nanbyodata.jp/ontology/NANDO_2200542 parent H01944 NANDO:2200542 H01944 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハース病 Glycogen storage disease type VI https://identifiers.org/kegg.disease:H01944 H01944 NANDO:2200542 H01944 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 VI 型 Glycogen storage disease type VI https://identifiers.org/kegg.disease:H01944 H01944 NANDO:2200542 H01944 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハース病 Hers disease https://identifiers.org/kegg.disease:H01944 H01944 NANDO:2200542 H01944 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 VI 型 Hers disease https://identifiers.org/kegg.disease:H01944 NANDO:2200543 http://nanbyodata.jp/ontology/NANDO_2200543 parent H01945 NANDO:2200543 H01945 http://www.geneontology.org/formats/oboInOwl#hasDbXref 垂井病 Glycogen storage disease type VII https://identifiers.org/kegg.disease:H01945 H01945 NANDO:2200543 H01945 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 VII 型 Glycogen storage disease type VII https://identifiers.org/kegg.disease:H01945 H01945 NANDO:2200543 H01945 http://www.geneontology.org/formats/oboInOwl#hasDbXref 垂井病 Tarui disease https://identifiers.org/kegg.disease:H01945 H01945 NANDO:2200543 H01945 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 VII 型 Tarui disease https://identifiers.org/kegg.disease:H01945 NANDO:2200544 http://nanbyodata.jp/ontology/NANDO_2200544 parent H01948 NANDO:2200544 H01948 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホスホリラーゼキナーゼ欠損症 Phosphorylase kinase deficiency https://identifiers.org/kegg.disease:H01948 H01948 NANDO:2200544 H01948 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 IX 型 Phosphorylase kinase deficiency https://identifiers.org/kegg.disease:H01948 H01948 NANDO:2200544 H01948 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホスホリラーゼキナーゼ欠損症 Glycogen storage disease type IX https://identifiers.org/kegg.disease:H01948 H01948 NANDO:2200544 H01948 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 IX 型 Glycogen storage disease type IX https://identifiers.org/kegg.disease:H01948 NANDO:2200536 http://nanbyodata.jp/ontology/NANDO_2200536 parent H02520 NANDO:2200536 H02520 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホスホエノールピルビン酸カルボキシキナーゼ欠損症 Phosphoenolpyruvate carboxykinase deficiency https://identifiers.org/kegg.disease:H02520 NANDO:2200577 http://nanbyodata.jp/ontology/NANDO_2200577 parent H00075 NANDO:2200577 H00075 http://www.geneontology.org/formats/oboInOwl#hasDbXref レフスム病 Refsum disease https://identifiers.org/kegg.disease:H00075 H00075 NANDO:2200577 H00075 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発神経炎型遺伝性失調症 Refsum disease https://identifiers.org/kegg.disease:H00075 H00075 NANDO:2200577 H00075 http://www.geneontology.org/formats/oboInOwl#hasDbXref レフスム病 Heredopathia atactica polyneuritiformis https://identifiers.org/kegg.disease:H00075 H00075 NANDO:2200577 H00075 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発神経炎型遺伝性失調症 Heredopathia atactica polyneuritiformis https://identifiers.org/kegg.disease:H00075 NANDO:2200563 http://nanbyodata.jp/ontology/NANDO_2200563 parent H00125 NANDO:2200563 H00125 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファブリー病 Fabry disease https://identifiers.org/kegg.disease:H00125 H00125 NANDO:2200563 H00125 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファブリー病 Anderson-Fabry disease https://identifiers.org/kegg.disease:H00125 NANDO:2200564 http://nanbyodata.jp/ontology/NANDO_2200564 parent H00135 NANDO:2200564 H00135 http://www.geneontology.org/formats/oboInOwl#hasDbXref クラッベ病 Krabbe disease https://identifiers.org/kegg.disease:H00135 H00135 NANDO:2200564 H00135 http://www.geneontology.org/formats/oboInOwl#hasDbXref グロボイド細胞白質ジストロフィー Krabbe disease https://identifiers.org/kegg.disease:H00135 H00135 NANDO:2200564 H00135 http://www.geneontology.org/formats/oboInOwl#hasDbXref クラッベ病 Globoid cell leukodystrophy https://identifiers.org/kegg.disease:H00135 H00135 NANDO:2200564 H00135 http://www.geneontology.org/formats/oboInOwl#hasDbXref グロボイド細胞白質ジストロフィー Globoid cell leukodystrophy https://identifiers.org/kegg.disease:H00135 NANDO:2200565 http://nanbyodata.jp/ontology/NANDO_2200565 parent H00138 NANDO:2200565 H00138 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファーバー病 Farber disease https://identifiers.org/kegg.disease:H00138 H00138 NANDO:2200565 H00138 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファーバー脂肪性肉芽腫症 Farber disease https://identifiers.org/kegg.disease:H00138 H00138 NANDO:2200565 H00138 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファーバー病 Farber lipogranulomatosis https://identifiers.org/kegg.disease:H00138 H00138 NANDO:2200565 H00138 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファーバー脂肪性肉芽腫症 Farber lipogranulomatosis https://identifiers.org/kegg.disease:H00138 NANDO:2200567 http://nanbyodata.jp/ontology/NANDO_2200567 parent H00143 NANDO:2200567 H00143 http://www.geneontology.org/formats/oboInOwl#hasDbXref I 細胞病 I-cell disease https://identifiers.org/kegg.disease:H00143 H00143 NANDO:2200567 H00143 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス II 型 I-cell disease https://identifiers.org/kegg.disease:H00143 H00143 NANDO:2200567 H00143 http://www.geneontology.org/formats/oboInOwl#hasDbXref I 細胞病 Mucolipidosis II https://identifiers.org/kegg.disease:H00143 H00143 NANDO:2200567 H00143 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス II 型 Mucolipidosis II https://identifiers.org/kegg.disease:H00143 NANDO:2200573 http://nanbyodata.jp/ontology/NANDO_2200573 parent H00149 NANDO:2200573 H00149 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経セロイドリポフスチン症 Neuronal ceroid lipofuscinosis https://identifiers.org/kegg.disease:H00149 NANDO:2200603 http://nanbyodata.jp/ontology/NANDO_2200603 parent H00153 NANDO:2200603 H00153 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性複合型高脂血症 Familial combined hyperlipidemia https://identifiers.org/kegg.disease:H00153 NANDO:2200602 http://nanbyodata.jp/ontology/NANDO_2200602 parent H00155 NANDO:2200602 H00155 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性高コレステロール血症 Familial hypercholesterolemia https://identifiers.org/kegg.disease:H00155 H00155 NANDO:2200602 H00155 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性高コレステロール血症 Autosomal dominant hypercholesterolaemia https://identifiers.org/kegg.disease:H00155 NANDO:2200604 http://nanbyodata.jp/ontology/NANDO_2200604 parent H00160 NANDO:2200604 H00160 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無βリポタンパク血症 Abetalipoproteinemia https://identifiers.org/kegg.disease:H00160 H00160 NANDO:2200604 H00160 http://www.geneontology.org/formats/oboInOwl#hasDbXref バッセン・コーンツヴァイク病 Abetalipoproteinemia https://identifiers.org/kegg.disease:H00160 H00160 NANDO:2200604 H00160 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無βリポタンパク血症 Bassen-Kornzweig Disease https://identifiers.org/kegg.disease:H00160 H00160 NANDO:2200604 H00160 http://www.geneontology.org/formats/oboInOwl#hasDbXref バッセン・コーンツヴァイク病 Bassen-Kornzweig Disease https://identifiers.org/kegg.disease:H00160 NANDO:2200576 http://nanbyodata.jp/ontology/NANDO_2200576 parent H00176 NANDO:2200576 H00176 http://www.geneontology.org/formats/oboInOwl#hasDbXref 副腎白質ジストロフィー Adrenoleukodystrophy https://identifiers.org/kegg.disease:H00176 NANDO:2200588 http://nanbyodata.jp/ontology/NANDO_2200588 parent H00192 NANDO:2200588 H00192 http://www.geneontology.org/formats/oboInOwl#hasDbXref キサンチン尿症 Xanthinuria https://identifiers.org/kegg.disease:H00192 NANDO:2200586 http://nanbyodata.jp/ontology/NANDO_2200586 parent H00194 NANDO:2200586 H00194 http://www.geneontology.org/formats/oboInOwl#hasDbXref レッシュ・ナイハン症候群 Lesch-Nyhan syndrome https://identifiers.org/kegg.disease:H00194 H00194 NANDO:2200586 H00194 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Lesch-Nyhan syndrome https://identifiers.org/kegg.disease:H00194 H00194 NANDO:2200586 H00194 http://www.geneontology.org/formats/oboInOwl#hasDbXref レッシュ・ナイハン症候群 Hypoxanthine-guanine phosophoribosyltransferase deficiency https://identifiers.org/kegg.disease:H00194 H00194 NANDO:2200586 H00194 http://www.geneontology.org/formats/oboInOwl#hasDbXref 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 Hypoxanthine-guanine phosophoribosyltransferase deficiency https://identifiers.org/kegg.disease:H00194 NANDO:2200587 http://nanbyodata.jp/ontology/NANDO_2200587 parent H00195 NANDO:2200587 H00195 http://www.geneontology.org/formats/oboInOwl#hasDbXref アデニンホスホリボシルトランスフェラーゼ欠損症 Adenine phosphoribosyltransferase deficiency https://identifiers.org/kegg.disease:H00195 H00195 NANDO:2200587 H00195 http://www.geneontology.org/formats/oboInOwl#hasDbXref 2-8ジヒドロキシアデニン結石 Adenine phosphoribosyltransferase deficiency https://identifiers.org/kegg.disease:H00195 H00195 NANDO:2200587 H00195 http://www.geneontology.org/formats/oboInOwl#hasDbXref アデニンホスホリボシルトランスフェラーゼ欠損症 2,8-Dihydroxyadenine urolithiasis https://identifiers.org/kegg.disease:H00195 H00195 NANDO:2200587 H00195 http://www.geneontology.org/formats/oboInOwl#hasDbXref 2-8ジヒドロキシアデニン結石 2,8-Dihydroxyadenine urolithiasis https://identifiers.org/kegg.disease:H00195 NANDO:2200590 http://nanbyodata.jp/ontology/NANDO_2200590 parent H00198 NANDO:2200590 H00198 http://www.geneontology.org/formats/oboInOwl#hasDbXref オロト酸尿症 Orotic aciduria https://identifiers.org/kegg.disease:H00198 NANDO:2200575 http://nanbyodata.jp/ontology/NANDO_2200575 parent H00205 NANDO:2200575 H00205 http://www.geneontology.org/formats/oboInOwl#hasDbXref ペルオキシソーム形成異常症 Peroxisome biogenesis disorder https://identifiers.org/kegg.disease:H00205 NANDO:2200579 http://nanbyodata.jp/ontology/NANDO_2200579 parent H00210 NANDO:2200579 H00210 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィルソン病 Wilson disease https://identifiers.org/kegg.disease:H00210 H00210 NANDO:2200579 H00210 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝レンズ核変性症 Wilson disease https://identifiers.org/kegg.disease:H00210 H00210 NANDO:2200579 H00210 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィルソン病 Hepatolenticular degeneration https://identifiers.org/kegg.disease:H00210 H00210 NANDO:2200579 H00210 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝レンズ核変性症 Hepatolenticular degeneration https://identifiers.org/kegg.disease:H00210 NANDO:2200626 http://nanbyodata.jp/ontology/NANDO_2200626 parent H00228 NANDO:2200626 H00228 http://www.geneontology.org/formats/oboInOwl#hasDbXref サラセミア Thalassemia https://identifiers.org/kegg.disease:H00228 NANDO:2200622 http://nanbyodata.jp/ontology/NANDO_2200622 parent H00230 NANDO:2200622 H00230 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性球状赤血球症 Hereditary spherocytosis https://identifiers.org/kegg.disease:H00230 NANDO:2200630 http://nanbyodata.jp/ontology/NANDO_2200630 parent H00231 NANDO:2200630 H00231 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性楕円赤血球症 Hereditary elliptocytosis https://identifiers.org/kegg.disease:H00231 NANDO:2200644 http://nanbyodata.jp/ontology/NANDO_2200644 parent H00236 NANDO:2200644 H00236 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性赤血球増加症 Congenital polycythemia https://identifiers.org/kegg.disease:H00236 H00236 NANDO:2200644 H00236 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球増加症 Congenital polycythemia https://identifiers.org/kegg.disease:H00236 H00236 NANDO:2200644 H00236 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性赤血球増加症 Familial erythrocytosis (ECYT) https://identifiers.org/kegg.disease:H00236 H00236 NANDO:2200644 H00236 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球増加症 Familial erythrocytosis (ECYT) https://identifiers.org/kegg.disease:H00236 NANDO:2200566 http://nanbyodata.jp/ontology/NANDO_2200566 parent H00272 NANDO:2200566 H00272 http://www.geneontology.org/formats/oboInOwl#hasDbXref マルチプルスルファターゼ欠損症 Multiple sulfatase deficiency https://identifiers.org/kegg.disease:H00272 NANDO:2200571 http://nanbyodata.jp/ontology/NANDO_2200571 parent H00275 NANDO:2200571 H00275 http://www.geneontology.org/formats/oboInOwl#hasDbXref シスチン症 Cystinosis https://identifiers.org/kegg.disease:H00275 NANDO:2200607 http://nanbyodata.jp/ontology/NANDO_2200607 parent H00802 NANDO:2200607 H00802 http://www.geneontology.org/formats/oboInOwl#hasDbXref エーラス・ダンロス症候群 Ehlers-Danlos syndrome https://identifiers.org/kegg.disease:H00802 NANDO:2200599 http://nanbyodata.jp/ontology/NANDO_2200599 parent H00835 NANDO:2200599 H00835 http://www.geneontology.org/formats/oboInOwl#hasDbXref コハク酸セミアルデヒド脱水素酵素欠損症 Succinic semialdehyde dehydrogenase deficiency https://identifiers.org/kegg.disease:H00835 H00835 NANDO:2200599 H00835 http://www.geneontology.org/formats/oboInOwl#hasDbXref 4-ヒドロキシ酪酸尿症 Succinic semialdehyde dehydrogenase deficiency https://identifiers.org/kegg.disease:H00835 H00835 NANDO:2200599 H00835 http://www.geneontology.org/formats/oboInOwl#hasDbXref コハク酸セミアルデヒド脱水素酵素欠損症 4-Hydroxybutyric aciduria https://identifiers.org/kegg.disease:H00835 H00835 NANDO:2200599 H00835 http://www.geneontology.org/formats/oboInOwl#hasDbXref 4-ヒドロキシ酪酸尿症 4-Hydroxybutyric aciduria https://identifiers.org/kegg.disease:H00835 NANDO:2200615 http://nanbyodata.jp/ontology/NANDO_2200615 parent H00917 NANDO:2200615 H00917 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球形成異常性貧血 Congenital dyserythropoietic anemia https://identifiers.org/kegg.disease:H00917 H00917 NANDO:2200615 H00917 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球生成不全性貧血 Congenital dyserythropoietic anemia https://identifiers.org/kegg.disease:H00917 H00917 NANDO:2200615 H00917 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性赤血球異形成貧血 Congenital dyserythropoietic anemia https://identifiers.org/kegg.disease:H00917 NANDO:2200621 http://nanbyodata.jp/ontology/NANDO_2200621 parent H01053 NANDO:2200621 H01053 http://www.geneontology.org/formats/oboInOwl#hasDbXref 発作性夜間ヘモグロビン尿症 Paroxysmal nocturnal hemoglobinuria https://identifiers.org/kegg.disease:H01053 NANDO:2200611 http://nanbyodata.jp/ontology/NANDO_2200611 parent H01103 NANDO:2200611 H01103 http://www.geneontology.org/formats/oboInOwl#hasDbXref α1-アンチトリプシン欠乏症 Alpha-1-antitrypsin deficiency https://identifiers.org/kegg.disease:H01103 NANDO:2200617 http://nanbyodata.jp/ontology/NANDO_2200617 parent H01145 NANDO:2200617 H01145 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無トランスフェリン血症 Congenital hypotransferrinemia https://identifiers.org/kegg.disease:H01145 H01145 NANDO:2200617 H01145 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無トランスフェリン血症 Atransferrinemia https://identifiers.org/kegg.disease:H01145 NANDO:2200596 http://nanbyodata.jp/ontology/NANDO_2200596 parent H01161 NANDO:2200596 H01161 http://www.geneontology.org/formats/oboInOwl#hasDbXref AADC欠損症 Aromatic L-amino acid decarboxylase deficiency https://identifiers.org/kegg.disease:H01161 H01161 NANDO:2200596 H01161 http://www.geneontology.org/formats/oboInOwl#hasDbXref 芳香族 L- アミノ酸脱炭酸酵素欠損症 Aromatic L-amino acid decarboxylase deficiency https://identifiers.org/kegg.disease:H01161 NANDO:2200583 http://nanbyodata.jp/ontology/NANDO_2200583 parent H01237 NANDO:2200583 H01237 http://www.geneontology.org/formats/oboInOwl#hasDbXref 亜硫酸オキシダーゼ欠損症 Sulfite oxidase deficiency https://identifiers.org/kegg.disease:H01237 NANDO:2200592 http://nanbyodata.jp/ontology/NANDO_2200592 parent H01252 NANDO:2200592 H01252 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性葉酸吸収不全 Hereditary folate malabsorption https://identifiers.org/kegg.disease:H01252 NANDO:2200613 http://nanbyodata.jp/ontology/NANDO_2200613 parent H01586 NANDO:2200613 H01586 http://www.geneontology.org/formats/oboInOwl#hasDbXref 後天性赤芽球癆 Acquired pure red cell aplasia https://identifiers.org/kegg.disease:H01586 NANDO:2200639 http://nanbyodata.jp/ontology/NANDO_2200639 parent H01587 NANDO:2200639 H01587 http://www.geneontology.org/formats/oboInOwl#hasDbXref 播種性血管内凝固症候群 Disseminated intravascular coagulation https://identifiers.org/kegg.disease:H01587 H01587 NANDO:2200639 H01587 http://www.geneontology.org/formats/oboInOwl#hasDbXref 汎発性血管内凝固症候群 Disseminated intravascular coagulation https://identifiers.org/kegg.disease:H01587 NANDO:2200601 http://nanbyodata.jp/ontology/NANDO_2200601 parent H01784 NANDO:2200601 H01784 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性高カイロミクロン血症 Primary hyperchylomicronemia https://identifiers.org/kegg.disease:H01784 NANDO:2200581 http://nanbyodata.jp/ontology/NANDO_2200581 parent H01859 NANDO:2200581 H01859 http://www.geneontology.org/formats/oboInOwl#hasDbXref オクシピタル・ホーン症候群 Occipital horn syndrome https://identifiers.org/kegg.disease:H01859 NANDO:2200569 http://nanbyodata.jp/ontology/NANDO_2200569 parent H01940 NANDO:2200569 H01940 http://www.geneontology.org/formats/oboInOwl#hasDbXref ポンペ病 Pompe disease https://identifiers.org/kegg.disease:H01940 H01940 NANDO:2200569 H01940 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 II型 Pompe disease https://identifiers.org/kegg.disease:H01940 H01940 NANDO:2200569 H01940 http://www.geneontology.org/formats/oboInOwl#hasDbXref ポンペ病 Glycogen storage disease type II https://identifiers.org/kegg.disease:H01940 H01940 NANDO:2200569 H01940 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 II型 Glycogen storage disease type II https://identifiers.org/kegg.disease:H01940 NANDO:2200568 http://nanbyodata.jp/ontology/NANDO_2200568 parent H02130 NANDO:2200568 H02130 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス III 型 Mucolipidosis III https://identifiers.org/kegg.disease:H02130 H02130 NANDO:2200568 H02130 http://www.geneontology.org/formats/oboInOwl#hasDbXref 偽 Hurler ポリジストロフィー Mucolipidosis III https://identifiers.org/kegg.disease:H02130 H02130 NANDO:2200568 H02130 http://www.geneontology.org/formats/oboInOwl#hasDbXref ムコリピドーシス III 型 Pseudo-Hurler polydystrophy https://identifiers.org/kegg.disease:H02130 H02130 NANDO:2200568 H02130 http://www.geneontology.org/formats/oboInOwl#hasDbXref 偽 Hurler ポリジストロフィー Pseudo-Hurler polydystrophy https://identifiers.org/kegg.disease:H02130 NANDO:2200582 http://nanbyodata.jp/ontology/NANDO_2200582 parent H02206 NANDO:2200582 H02206 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無セルロプラスミン血症 Aceruloplasminemia https://identifiers.org/kegg.disease:H02206 H02206 NANDO:2200582 H02206 http://www.geneontology.org/formats/oboInOwl#hasDbXref セルロプラスミン欠損症 Aceruloplasminemia https://identifiers.org/kegg.disease:H02206 H02206 NANDO:2200582 H02206 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無セルロプラスミン血症 Ceruloplasmin deficiency https://identifiers.org/kegg.disease:H02206 H02206 NANDO:2200582 H02206 http://www.geneontology.org/formats/oboInOwl#hasDbXref セルロプラスミン欠損症 Ceruloplasmin deficiency https://identifiers.org/kegg.disease:H02206 NANDO:2200705 http://nanbyodata.jp/ontology/NANDO_2200705 parent H00064 NANDO:2200705 H00064 http://www.geneontology.org/formats/oboInOwl#hasDbXref 毛細血管拡張性運動失調症 Ataxia telangiectasia https://identifiers.org/kegg.disease:H00064 H00064 NANDO:2200705 H00064 http://www.geneontology.org/formats/oboInOwl#hasDbXref 毛細血管拡張性運動失調症 Louis-Bar syndrome https://identifiers.org/kegg.disease:H00064 H00064 NANDO:2200705 H00064 http://www.geneontology.org/formats/oboInOwl#hasDbXref 毛細血管拡張性運動失調症 Boder-Sedgwick syndrome https://identifiers.org/kegg.disease:H00064 NANDO:2200717 http://nanbyodata.jp/ontology/NANDO_2200717 parent H00088 NANDO:2200717 H00088 http://www.geneontology.org/formats/oboInOwl#hasDbXref 分類不能型免疫不全症 Common variable immunodeficiency https://identifiers.org/kegg.disease:H00088 NANDO:2200767 http://nanbyodata.jp/ontology/NANDO_2200767 parent H00097 NANDO:2200767 H00097 http://www.geneontology.org/formats/oboInOwl#hasDbXref WHIM 症候群 WHIM syndrome https://identifiers.org/kegg.disease:H00097 NANDO:2200757 http://nanbyodata.jp/ontology/NANDO_2200757 parent H00098 NANDO:2200757 H00098 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性肉芽腫症 Chronic granulomatous disease https://identifiers.org/kegg.disease:H00098 NANDO:2200726 http://nanbyodata.jp/ontology/NANDO_2200726 parent H00108 NANDO:2200726 H00108 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性リンパ増殖症候群 Autoimmune lymphoproliferative syndromes https://identifiers.org/kegg.disease:H00108 NANDO:2200674 http://nanbyodata.jp/ontology/NANDO_2200674 parent H00220 NANDO:2200674 H00220 http://www.geneontology.org/formats/oboInOwl#hasDbXref 第V因子欠損症 Factor V deficiency https://identifiers.org/kegg.disease:H00220 H00220 NANDO:2200674 H00220 http://www.geneontology.org/formats/oboInOwl#hasDbXref 第V因子欠損症 Owren disease https://identifiers.org/kegg.disease:H00220 NANDO:2200656 http://nanbyodata.jp/ontology/NANDO_2200656 parent H00224 NANDO:2200656 H00224 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベルナール・スーリエ症候群 Bernard-Soulier syndrome https://identifiers.org/kegg.disease:H00224 H00224 NANDO:2200656 H00224 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベルナール・スーリエ症候群 Giant platelet syndrome https://identifiers.org/kegg.disease:H00224 NANDO:2200649 http://nanbyodata.jp/ontology/NANDO_2200649 parent H00225 NANDO:2200649 H00225 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血栓性血小板減少性紫斑病 Thrombotic thrombocytopenic purpura https://identifiers.org/kegg.disease:H00225 H00225 NANDO:2200649 H00225 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血栓性血小板減少性紫斑病 Moschcowitz disease https://identifiers.org/kegg.disease:H00225 H00225 NANDO:2200649 H00225 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血栓性血小板減少性紫斑病 Schulman-Upshaw syndrome https://identifiers.org/kegg.disease:H00225 NANDO:2200651 http://nanbyodata.jp/ontology/NANDO_2200651 parent H00227 NANDO:2200651 H00227 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性無巨核球性血小板減少症 Congenital amegakaryocytic thrombocytopenia https://identifiers.org/kegg.disease:H00227 NANDO:2200652 http://nanbyodata.jp/ontology/NANDO_2200652 parent H00238 NANDO:2200652 H00238 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファンコニ貧血 Fanconi anemia https://identifiers.org/kegg.disease:H00238 NANDO:2200817 http://nanbyodata.jp/ontology/NANDO_2200817 parent H00268 NANDO:2200817 H00268 http://www.geneontology.org/formats/oboInOwl#hasDbXref 滑脳症 Lissencephaly https://identifiers.org/kegg.disease:H00268 NANDO:2200756 http://nanbyodata.jp/ontology/NANDO_2200756 parent H00439 NANDO:2200756 H00439 http://www.geneontology.org/formats/oboInOwl#hasDbXref シュバッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome https://identifiers.org/kegg.disease:H00439 NANDO:2200715 http://nanbyodata.jp/ontology/NANDO_2200715 parent H00507 NANDO:2200715 H00507 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性角化異常症 Dyskeratosis congenita https://identifiers.org/kegg.disease:H00507 NANDO:2200751 http://nanbyodata.jp/ontology/NANDO_2200751 parent H00654 NANDO:2200751 H00654 http://www.geneontology.org/formats/oboInOwl#hasDbXref バース症候群 Barth syndrome https://identifiers.org/kegg.disease:H00654 NANDO:2200768 http://nanbyodata.jp/ontology/NANDO_2200768 parent H00842 NANDO:2200768 H00842 http://www.geneontology.org/formats/oboInOwl#hasDbXref 疣贅状表皮発育異常症 Epidermodysplasia verruciformis https://identifiers.org/kegg.disease:H00842 NANDO:2200710 http://nanbyodata.jp/ontology/NANDO_2200710 parent H00962 NANDO:2200710 H00962 http://www.geneontology.org/formats/oboInOwl#hasDbXref RIDDLE 症候群 RIDDLE syndrome https://identifiers.org/kegg.disease:H00962 NANDO:2200795 http://nanbyodata.jp/ontology/NANDO_2200795 parent H01006 NANDO:2200795 H01006 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性血管性浮腫 Hereditary angioedema https://identifiers.org/kegg.disease:H01006 NANDO:2200764 http://nanbyodata.jp/ontology/NANDO_2200764 parent H01109 NANDO:2200764 H01109 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis https://identifiers.org/kegg.disease:H01109 H01109 NANDO:2200764 H01109 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性皮膚粘膜カンジダ症 Familial candidiasis (CANDF) https://identifiers.org/kegg.disease:H01109 NANDO:2200695 http://nanbyodata.jp/ontology/NANDO_2200695 parent H01128 NANDO:2200695 H01128 http://www.geneontology.org/formats/oboInOwl#hasDbXref 細網異形成症 Reticular dysgenesis https://identifiers.org/kegg.disease:H01128 NANDO:2200693 http://nanbyodata.jp/ontology/NANDO_2200693 parent H01132 NANDO:2200693 H01132 http://www.geneontology.org/formats/oboInOwl#hasDbXref 再生不良性貧血 Aplastic anemia https://identifiers.org/kegg.disease:H01132 NANDO:2200671 http://nanbyodata.jp/ontology/NANDO_2200671 parent H01162 NANDO:2200671 H01162 http://www.geneontology.org/formats/oboInOwl#hasDbXref スコット症候群 Scott syndrome https://identifiers.org/kegg.disease:H01162 NANDO:2200752 http://nanbyodata.jp/ontology/NANDO_2200752 parent H01218 NANDO:2200752 H01218 http://www.geneontology.org/formats/oboInOwl#hasDbXref P14 欠損症 P14 deficiency https://identifiers.org/kegg.disease:H01218 NANDO:2200706 http://nanbyodata.jp/ontology/NANDO_2200706 parent H01344 NANDO:2200706 H01344 http://www.geneontology.org/formats/oboInOwl#hasDbXref ナイミーヘン染色体不安定症候群 Nijmegen breakage syndrome https://identifiers.org/kegg.disease:H01344 NANDO:2200707 http://nanbyodata.jp/ontology/NANDO_2200707 parent H01346 NANDO:2200707 H01346 http://www.geneontology.org/formats/oboInOwl#hasDbXref ブルーム症候群 Bloom syndrome https://identifiers.org/kegg.disease:H01346 H01346 NANDO:2200707 H01346 http://www.geneontology.org/formats/oboInOwl#hasDbXref MGRISCE1 Bloom syndrome https://identifiers.org/kegg.disease:H01346 H01346 NANDO:2200707 H01346 http://www.geneontology.org/formats/oboInOwl#hasDbXref ブルーム症候群 MGRISCE1 https://identifiers.org/kegg.disease:H01346 H01346 NANDO:2200707 H01346 http://www.geneontology.org/formats/oboInOwl#hasDbXref MGRISCE1 MGRISCE1 https://identifiers.org/kegg.disease:H01346 NANDO:2200704 http://nanbyodata.jp/ontology/NANDO_2200704 parent H01523 NANDO:2200704 H01523 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィスコット・アルドリッチ症候群 Wiskott-Aldrich syndrome https://identifiers.org/kegg.disease:H01523 NANDO:2200692 http://nanbyodata.jp/ontology/NANDO_2200692 parent H01605 NANDO:2200692 H01605 http://www.geneontology.org/formats/oboInOwl#hasDbXref 骨髄線維症 Myelofibrosis https://identifiers.org/kegg.disease:H01605 NANDO:2200655 http://nanbyodata.jp/ontology/NANDO_2200655 parent H01612 NANDO:2200655 H01612 http://www.geneontology.org/formats/oboInOwl#hasDbXref 本態性血小板血症 Essential thrombocythemia https://identifiers.org/kegg.disease:H01612 H01612 NANDO:2200655 H01612 http://www.geneontology.org/formats/oboInOwl#hasDbXref 本態性血小板血症 Essential thrombocytosis https://identifiers.org/kegg.disease:H01612 H01612 NANDO:2200655 H01612 http://www.geneontology.org/formats/oboInOwl#hasDbXref 本態性血小板血症 Thrombocythemia https://identifiers.org/kegg.disease:H01612 NANDO:2200807 http://nanbyodata.jp/ontology/NANDO_2200807 parent H01782 NANDO:2200807 H01782 http://www.geneontology.org/formats/oboInOwl#hasDbXref 好酸球性消化管疾患 Eosinophilic gastrointestinal disorder https://identifiers.org/kegg.disease:H01782 NANDO:2200792 http://nanbyodata.jp/ontology/NANDO_2200792 parent H01887 NANDO:2200792 H01887 http://www.geneontology.org/formats/oboInOwl#hasDbXref 3MC 症候群 3MC syndrome https://identifiers.org/kegg.disease:H01887 H01887 NANDO:2200792 H01887 http://www.geneontology.org/formats/oboInOwl#hasDbXref 3MC 症候群 Malpuech-Michels-Mingarelli-Carnevale syndrome https://identifiers.org/kegg.disease:H01887 NANDO:2200713 http://nanbyodata.jp/ontology/NANDO_2200713 parent H01968 NANDO:2200713 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Buckley 症候群 Hyper-IgE syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:2200713 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Job 症候群 Hyper-IgE syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:2200713 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高 IgE 症候群 Hyper-IgE syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:2200713 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Buckley 症候群 Buckley syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:2200713 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Job 症候群 Buckley syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:2200713 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高 IgE 症候群 Buckley syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:2200713 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Buckley 症候群 Job syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:2200713 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref Job 症候群 Job syndrome https://identifiers.org/kegg.disease:H01968 H01968 NANDO:2200713 H01968 http://www.geneontology.org/formats/oboInOwl#hasDbXref 高 IgE 症候群 Job syndrome https://identifiers.org/kegg.disease:H01968 NANDO:2200725 http://nanbyodata.jp/ontology/NANDO_2200725 parent H01969 NANDO:2200725 H01969 http://www.geneontology.org/formats/oboInOwl#hasDbXref Duncan 病 X-linked lymphoproliferative syndrome https://identifiers.org/kegg.disease:H01969 H01969 NANDO:2200725 H01969 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖性リンパ球増殖症候群 X-linked lymphoproliferative syndrome https://identifiers.org/kegg.disease:H01969 H01969 NANDO:2200725 H01969 http://www.geneontology.org/formats/oboInOwl#hasDbXref Duncan 病 Duncan disease https://identifiers.org/kegg.disease:H01969 H01969 NANDO:2200725 H01969 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖性リンパ球増殖症候群 Duncan disease https://identifiers.org/kegg.disease:H01969 NANDO:2200724 http://nanbyodata.jp/ontology/NANDO_2200724 parent H02021 NANDO:2200724 H02021 http://www.geneontology.org/formats/oboInOwl#hasDbXref チェディアック・東症候群 Chediak-Higashi syndrome https://identifiers.org/kegg.disease:H02021 NANDO:2200758 http://nanbyodata.jp/ontology/NANDO_2200758 parent H02025 NANDO:2200758 H02025 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミエロペルオキシダーゼ欠損症 Myeloperoxidase deficiency https://identifiers.org/kegg.disease:H02025 NANDO:2200654 http://nanbyodata.jp/ontology/NANDO_2200654 parent H02051 NANDO:2200654 H02051 http://www.geneontology.org/formats/oboInOwl#hasDbXref メイ・ヘグリン異常 May-Hegglin anomaly https://identifiers.org/kegg.disease:H02051 NANDO:2200682 http://nanbyodata.jp/ontology/NANDO_2200682 parent H02092 NANDO:2200682 H02092 http://www.geneontology.org/formats/oboInOwl#hasDbXref フォン・ヴィレブランド病 von Willebrand disease https://identifiers.org/kegg.disease:H02092 NANDO:2200668 http://nanbyodata.jp/ontology/NANDO_2200668 parent H02093 NANDO:2200668 H02093 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血小板型フォン・ヴィレブランド病 Platelet-type von Willebrand disease https://identifiers.org/kegg.disease:H02093 H02093 NANDO:2200668 H02093 http://www.geneontology.org/formats/oboInOwl#hasDbXref 血小板型フォン・ヴィレブランド病 Pseudo-von Willebrand disease https://identifiers.org/kegg.disease:H02093 NANDO:2200696 http://nanbyodata.jp/ontology/NANDO_2200696 parent H02309 NANDO:2200696 H02309 http://www.geneontology.org/formats/oboInOwl#hasDbXref アデノシンデアミナーゼ欠損症 Adenosine deaminase deficiency https://identifiers.org/kegg.disease:H02309 NANDO:2200697 http://nanbyodata.jp/ontology/NANDO_2200697 parent H02554 NANDO:2200697 H02554 http://www.geneontology.org/formats/oboInOwl#hasDbXref Omenn 症候群 Omenn syndrome https://identifiers.org/kegg.disease:H02554 NANDO:2200835 http://nanbyodata.jp/ontology/NANDO_2200835 parent H00065 NANDO:2200835 H00065 http://www.geneontology.org/formats/oboInOwl#hasDbXref アレキサンダー病 Alexander disease https://identifiers.org/kegg.disease:H00065 NANDO:2200834 http://nanbyodata.jp/ontology/NANDO_2200834 parent H00074 NANDO:2200834 H00074 http://www.geneontology.org/formats/oboInOwl#hasDbXref カナバン病 Canavan disease https://identifiers.org/kegg.disease:H00074 NANDO:2200832 http://nanbyodata.jp/ontology/NANDO_2200832 parent H00076 NANDO:2200832 H00076 http://www.geneontology.org/formats/oboInOwl#hasDbXref コケイン症候群 Cockayne syndrome https://identifiers.org/kegg.disease:H00076 NANDO:2200855 http://nanbyodata.jp/ontology/NANDO_2200855 parent H00264 NANDO:2200855 H00264 http://www.geneontology.org/formats/oboInOwl#hasDbXref シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease https://identifiers.org/kegg.disease:H00264 H00264 NANDO:2200855 H00264 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性運動感覚ニューロパチー Charcot-Marie-Tooth disease https://identifiers.org/kegg.disease:H00264 H00264 NANDO:2200855 H00264 http://www.geneontology.org/formats/oboInOwl#hasDbXref シャルコー・マリー・トゥース病 Hereditary motor and sensory neuropathy https://identifiers.org/kegg.disease:H00264 H00264 NANDO:2200855 H00264 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性運動感覚ニューロパチー Hereditary motor and sensory neuropathy https://identifiers.org/kegg.disease:H00264 NANDO:2200819 http://nanbyodata.jp/ontology/NANDO_2200819 parent H00267 NANDO:2200819 H00267 http://www.geneontology.org/formats/oboInOwl#hasDbXref 全前脳胞症 Holoprosencephaly https://identifiers.org/kegg.disease:H00267 NANDO:2200825 http://nanbyodata.jp/ontology/NANDO_2200825 parent H00440 NANDO:2200825 H00440 http://www.geneontology.org/formats/oboInOwl#hasDbXref レット症候群 Rett syndrome https://identifiers.org/kegg.disease:H00440 NANDO:2200853 http://nanbyodata.jp/ontology/NANDO_2200853 parent H00455 NANDO:2200853 H00455 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脊髄性筋萎縮症 Spinal muscular atrophy https://identifiers.org/kegg.disease:H00455 NANDO:2200840 http://nanbyodata.jp/ontology/NANDO_2200840 parent H00465 NANDO:2200840 H00465 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脆弱Ｘ症候群 Fragile X syndrome https://identifiers.org/kegg.disease:H00465 NANDO:2200824 http://nanbyodata.jp/ontology/NANDO_2200824 parent H00530 NANDO:2200824 H00530 http://www.geneontology.org/formats/oboInOwl#hasDbXref ジュベール症候群関連疾患 Joubert syndrome and related disorders https://identifiers.org/kegg.disease:H00530 NANDO:2200820 http://nanbyodata.jp/ontology/NANDO_2200820 parent H00544 NANDO:2200820 H00544 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中隔視神経形成異常症 Septo-optic dysplasia https://identifiers.org/kegg.disease:H00544 NANDO:2200857 http://nanbyodata.jp/ontology/NANDO_2200857 parent H00563 NANDO:2200857 H00563 http://www.geneontology.org/formats/oboInOwl#hasDbXref エメリー・ドレフュス型筋ジストロフィー Emery-Dreifuss muscular dystrophy https://identifiers.org/kegg.disease:H00563 NANDO:2200859 http://nanbyodata.jp/ontology/NANDO_2200859 parent H00591 NANDO:2200859 H00591 http://www.geneontology.org/formats/oboInOwl#hasDbXref 顔面肩甲上腕型筋ジストロフィー Facioscapulohumeral muscular dystrophy https://identifiers.org/kegg.disease:H00591 NANDO:2200858 http://nanbyodata.jp/ontology/NANDO_2200858 parent H00593 NANDO:2200858 H00593 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肢帯型筋ジストロフィー Limb-girdle muscular dystrophy https://identifiers.org/kegg.disease:H00593 NANDO:2200833 http://nanbyodata.jp/ontology/NANDO_2200833 parent H00601 NANDO:2200833 H00601 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハッチンソン・ギルフォード症候群 Hutchinson-Gilford progeria syndrome https://identifiers.org/kegg.disease:H00601 NANDO:2200836 http://nanbyodata.jp/ontology/NANDO_2200836 parent H00679 NANDO:2200836 H00679 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性大脳白質形成不全症 Hypomyelinating leukodystrophy https://identifiers.org/kegg.disease:H00679 H00679 NANDO:2200836 H00679 http://www.geneontology.org/formats/oboInOwl#hasDbXref ペリツェウス・メルツバッヘル病 Hypomyelinating leukodystrophy https://identifiers.org/kegg.disease:H00679 H00679 NANDO:2200836 H00679 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性大脳白質形成不全症 Pelizaeus-Merzbacher disease (PMD) https://identifiers.org/kegg.disease:H00679 H00679 NANDO:2200836 H00679 http://www.geneontology.org/formats/oboInOwl#hasDbXref ペリツェウス・メルツバッヘル病 Pelizaeus-Merzbacher disease (PMD) https://identifiers.org/kegg.disease:H00679 NANDO:2200869 http://nanbyodata.jp/ontology/NANDO_2200869 parent H00698 NANDO:2200869 H00698 http://www.geneontology.org/formats/oboInOwl#hasDbXref ネマリンミオパチー Nemaline myopathy https://identifiers.org/kegg.disease:H00698 NANDO:2200842 http://nanbyodata.jp/ontology/NANDO_2200842 parent H00849 NANDO:2200842 H00849 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳クレアチン欠乏症候群 Cerebral creatine deficiency syndrome https://identifiers.org/kegg.disease:H00849 NANDO:2200838 http://nanbyodata.jp/ontology/NANDO_2200838 parent H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 白質消失病 Vanishing white matter disease https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref Cree 白質脳症 Vanishing white matter disease https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref VWM 型白質脳症 Vanishing white matter disease https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢神経系白質形成不全症を伴う小児失調症 Vanishing white matter disease https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 白質消失病 Leukoencephalopathy with vanishing white matter https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref Cree 白質脳症 Leukoencephalopathy with vanishing white matter https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref VWM 型白質脳症 Leukoencephalopathy with vanishing white matter https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢神経系白質形成不全症を伴う小児失調症 Leukoencephalopathy with vanishing white matter https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 白質消失病 Cree leukoencephalopathy (CLE) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref Cree 白質脳症 Cree leukoencephalopathy (CLE) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref VWM 型白質脳症 Cree leukoencephalopathy (CLE) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢神経系白質形成不全症を伴う小児失調症 Cree leukoencephalopathy (CLE) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 白質消失病 Childhood ataxia with diffuse central nervous system hypomyelination (CACH) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref Cree 白質脳症 Childhood ataxia with diffuse central nervous system hypomyelination (CACH) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref VWM 型白質脳症 Childhood ataxia with diffuse central nervous system hypomyelination (CACH) https://identifiers.org/kegg.disease:H00869 H00869 NANDO:2200838 H00869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中枢神経系白質形成不全症を伴う小児失調症 Childhood ataxia with diffuse central nervous system hypomyelination (CACH) https://identifiers.org/kegg.disease:H00869 NANDO:2200837 http://nanbyodata.jp/ontology/NANDO_2200837 parent H00875 NANDO:2200837 H00875 http://www.geneontology.org/formats/oboInOwl#hasDbXref 皮質下嚢胞をもつ大頭型白質脳症 Megaloencephalic leukoencephalopathy with subcortical cysts https://identifiers.org/kegg.disease:H00875 NANDO:2200828 http://nanbyodata.jp/ontology/NANDO_2200828 parent H00895 NANDO:2200828 H00895 http://www.geneontology.org/formats/oboInOwl#hasDbXref 基底細胞母斑症候群 Basal cell nevus syndrome https://identifiers.org/kegg.disease:H00895 H00895 NANDO:2200828 H00895 http://www.geneontology.org/formats/oboInOwl#hasDbXref 基底細胞母斑症候群 Gorlin syndrome https://identifiers.org/kegg.disease:H00895 H00895 NANDO:2200828 H00895 http://www.geneontology.org/formats/oboInOwl#hasDbXref 基底細胞母斑症候群 Nevoid basal cell carcinoma syndrome https://identifiers.org/kegg.disease:H00895 NANDO:2200826 http://nanbyodata.jp/ontology/NANDO_2200826 parent H00915 NANDO:2200826 H00915 http://www.geneontology.org/formats/oboInOwl#hasDbXref 結節性硬化症 Tuberous sclerosis complex https://identifiers.org/kegg.disease:H00915 H00915 NANDO:2200826 H00915 http://www.geneontology.org/formats/oboInOwl#hasDbXref 結節性硬化症 Bourneville-Pringle disease https://identifiers.org/kegg.disease:H00915 NANDO:2200818 http://nanbyodata.jp/ontology/NANDO_2200818 parent H01160 NANDO:2200818 H01160 http://www.geneontology.org/formats/oboInOwl#hasDbXref 裂脳症 Schizencephaly https://identifiers.org/kegg.disease:H01160 NANDO:2200850 http://nanbyodata.jp/ontology/NANDO_2200850 parent H01396 NANDO:2200850 H01396 http://www.geneontology.org/formats/oboInOwl#hasDbXref もやもや病 Moyamoya disease https://identifiers.org/kegg.disease:H01396 NANDO:2200822 http://nanbyodata.jp/ontology/NANDO_2200822 parent H01677 NANDO:2200822 H01677 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性水頭症 Congenital hydrocephalus https://identifiers.org/kegg.disease:H01677 NANDO:2200821 http://nanbyodata.jp/ontology/NANDO_2200821 parent H01678 NANDO:2200821 H01678 http://www.geneontology.org/formats/oboInOwl#hasDbXref ダンディ・ウォーカー症候群 Dandy-Walker syndrome https://identifiers.org/kegg.disease:H01678 NANDO:2200831 http://nanbyodata.jp/ontology/NANDO_2200831 parent H01733 NANDO:2200831 H01733 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウェルナー症候群 Werner syndrome https://identifiers.org/kegg.disease:H01733 NANDO:2200839 http://nanbyodata.jp/ontology/NANDO_2200839 parent H01752 NANDO:2200839 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖アルファサラセミア精神遅滞症候群 ATR-X syndrome https://identifiers.org/kegg.disease:H01752 H01752 NANDO:2200839 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref ATR-X 症候群 ATR-X syndrome https://identifiers.org/kegg.disease:H01752 H01752 NANDO:2200839 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref X連鎖アルファサラセミア精神遅滞症候群 X-linked alpha-thalassemia/mental retardation syndrome https://identifiers.org/kegg.disease:H01752 H01752 NANDO:2200839 H01752 http://www.geneontology.org/formats/oboInOwl#hasDbXref ATR-X 症候群 X-linked alpha-thalassemia/mental retardation syndrome https://identifiers.org/kegg.disease:H01752 NANDO:2200844 http://nanbyodata.jp/ontology/NANDO_2200844 parent H01755 NANDO:2200844 H01755 http://www.geneontology.org/formats/oboInOwl#hasDbXref アペール症候群 Apert syndrome https://identifiers.org/kegg.disease:H01755 NANDO:2200862 http://nanbyodata.jp/ontology/NANDO_2200862 parent H01778 NANDO:2200862 H01778 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウルリッヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy https://identifiers.org/kegg.disease:H01778 H01778 NANDO:2200862 H01778 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウルリッヒ病 Ullrich congenital muscular dystrophy https://identifiers.org/kegg.disease:H01778 H01778 NANDO:2200862 H01778 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウルリッヒ型先天性筋ジストロフィー Ullrich disease https://identifiers.org/kegg.disease:H01778 H01778 NANDO:2200862 H01778 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウルリッヒ病 Ullrich disease https://identifiers.org/kegg.disease:H01778 NANDO:2200830 http://nanbyodata.jp/ontology/NANDO_2200830 parent H01809 NANDO:2200830 H01809 http://www.geneontology.org/formats/oboInOwl#hasDbXref スタージ・ウェーバー症候群 Sturge-Weber syndrome https://identifiers.org/kegg.disease:H01809 NANDO:2200854 http://nanbyodata.jp/ontology/NANDO_2200854 parent H01836 NANDO:2200854 H01836 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性無痛無汗症 Congenital pain insensitivity with anhidrosis https://identifiers.org/kegg.disease:H01836 NANDO:2200847 http://nanbyodata.jp/ontology/NANDO_2200847 parent H01888 NANDO:2200847 H01888 http://www.geneontology.org/formats/oboInOwl#hasDbXref カーペンター症候群 Carpenter syndrome https://identifiers.org/kegg.disease:H01888 NANDO:2200860 http://nanbyodata.jp/ontology/NANDO_2200860 parent H01957 NANDO:2200860 H01957 http://www.geneontology.org/formats/oboInOwl#hasDbXref 福山型先天性筋ジストロフィー Fukuyama congenital muscular dystrophy https://identifiers.org/kegg.disease:H01957 NANDO:2200861 http://nanbyodata.jp/ontology/NANDO_2200861 parent H01958 NANDO:2200861 H01958 http://www.geneontology.org/formats/oboInOwl#hasDbXref メロシン欠損型先天性筋ジストロフィー Merosin-deficient congenital muscular dystrophy https://identifiers.org/kegg.disease:H01958 NANDO:2200856 http://nanbyodata.jp/ontology/NANDO_2200856 parent H01963 NANDO:2200856 H01963 http://www.geneontology.org/formats/oboInOwl#hasDbXref デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy https://identifiers.org/kegg.disease:H01963 NANDO:2200865 http://nanbyodata.jp/ontology/NANDO_2200865 parent H01964 NANDO:2200865 H01964 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベッカー型筋ジストロフィー Becker muscular dystrophy https://identifiers.org/kegg.disease:H01964 NANDO:2200848 http://nanbyodata.jp/ontology/NANDO_2200848 parent H01991 NANDO:2200848 H01991 http://www.geneontology.org/formats/oboInOwl#hasDbXref ゼーツレ‐コッツェン症候群 Saethre-Chotzen syndrome https://identifiers.org/kegg.disease:H01991 NANDO:2200823 http://nanbyodata.jp/ontology/NANDO_2200823 parent H02153 NANDO:2200823 H02153 http://www.geneontology.org/formats/oboInOwl#hasDbXref MCAP 症候群 Megalencephaly-capillary malformation syndrome https://identifiers.org/kegg.disease:H02153 H02153 NANDO:2200823 H02153 http://www.geneontology.org/formats/oboInOwl#hasDbXref 巨頭症-毛細血管奇形症候群 Megalencephaly-capillary malformation syndrome https://identifiers.org/kegg.disease:H02153 H02153 NANDO:2200823 H02153 http://www.geneontology.org/formats/oboInOwl#hasDbXref MCAP 症候群 MCAP syndrome https://identifiers.org/kegg.disease:H02153 H02153 NANDO:2200823 H02153 http://www.geneontology.org/formats/oboInOwl#hasDbXref 巨頭症-毛細血管奇形症候群 MCAP syndrome https://identifiers.org/kegg.disease:H02153 NANDO:2200907 http://nanbyodata.jp/ontology/NANDO_2200907 parent H00116 NANDO:2200907 H00116 http://www.geneontology.org/formats/oboInOwl#hasDbXref 乳糖不耐症 Congenital lactase deficiency https://identifiers.org/kegg.disease:H00116 H00116 NANDO:2200907 H00116 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性ラクターゼ欠損症 Congenital lactase deficiency https://identifiers.org/kegg.disease:H00116 H00116 NANDO:2200907 H00116 http://www.geneontology.org/formats/oboInOwl#hasDbXref II 型二糖類不耐症 Congenital lactase deficiency https://identifiers.org/kegg.disease:H00116 H00116 NANDO:2200907 H00116 http://www.geneontology.org/formats/oboInOwl#hasDbXref 乳糖不耐症 Disaccharide intolerance II https://identifiers.org/kegg.disease:H00116 H00116 NANDO:2200907 H00116 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性ラクターゼ欠損症 Disaccharide intolerance II https://identifiers.org/kegg.disease:H00116 H00116 NANDO:2200907 H00116 http://www.geneontology.org/formats/oboInOwl#hasDbXref II 型二糖類不耐症 Disaccharide intolerance II https://identifiers.org/kegg.disease:H00116 NANDO:2200921 http://nanbyodata.jp/ontology/NANDO_2200921 parent H00286 NANDO:2200921 H00286 http://www.geneontology.org/formats/oboInOwl#hasDbXref クローン病 Crohn disease https://identifiers.org/kegg.disease:H00286 NANDO:2200893 http://nanbyodata.jp/ontology/NANDO_2200893 parent H00290 NANDO:2200893 H00290 http://www.geneontology.org/formats/oboInOwl#hasDbXref エカルディ・グティエール症候群 Aicardi-Goutieres syndrome https://identifiers.org/kegg.disease:H00290 NANDO:2200931 http://nanbyodata.jp/ontology/NANDO_2200931 parent H00551 NANDO:2200931 H00551 http://www.geneontology.org/formats/oboInOwl#hasDbXref アラジール症候群 Alagille syndrome https://identifiers.org/kegg.disease:H00551 NANDO:2200933 http://nanbyodata.jp/ontology/NANDO_2200933 parent H00624 NANDO:2200933 H00624 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性家族性肝内胆汁うっ滞症 Progressive familial intrahepatic cholestasis https://identifiers.org/kegg.disease:H00624 NANDO:2200917 http://nanbyodata.jp/ontology/NANDO_2200917 parent H00666 NANDO:2200917 H00666 http://www.geneontology.org/formats/oboInOwl#hasDbXref ポイツ・ジェーガーズ症候群 Peutz-Jeghers syndrome https://identifiers.org/kegg.disease:H00666 NANDO:2200870 http://nanbyodata.jp/ontology/NANDO_2200870 parent H00699 NANDO:2200870 H00699 http://www.geneontology.org/formats/oboInOwl#hasDbXref セントラルコア病 Central core disease https://identifiers.org/kegg.disease:H00699 NANDO:2200945 http://nanbyodata.jp/ontology/NANDO_2200945 parent H00910 NANDO:2200945 H00910 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヒルシュスプルング病 Hirschsprung disease https://identifiers.org/kegg.disease:H00910 NANDO:2200942 http://nanbyodata.jp/ontology/NANDO_2200942 parent H00933 NANDO:2200942 H00933 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性膵炎 Hereditary pancreatitis https://identifiers.org/kegg.disease:H00933 H00933 NANDO:2200942 H00933 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性膵炎 Hereditary chronic pancreatitis https://identifiers.org/kegg.disease:H00933 NANDO:2200910 http://nanbyodata.jp/ontology/NANDO_2200910 parent H00988 NANDO:2200910 H00988 http://www.geneontology.org/formats/oboInOwl#hasDbXref エンテロキナーゼ欠損症 Enterokinase deficiency https://identifiers.org/kegg.disease:H00988 H00988 NANDO:2200910 H00988 http://www.geneontology.org/formats/oboInOwl#hasDbXref エンテロペプチダーゼ欠損症 Enterokinase deficiency https://identifiers.org/kegg.disease:H00988 H00988 NANDO:2200910 H00988 http://www.geneontology.org/formats/oboInOwl#hasDbXref エンテロキナーゼ欠損症 Enteropeptidase deficiency https://identifiers.org/kegg.disease:H00988 H00988 NANDO:2200910 H00988 http://www.geneontology.org/formats/oboInOwl#hasDbXref エンテロペプチダーゼ欠損症 Enteropeptidase deficiency https://identifiers.org/kegg.disease:H00988 NANDO:2200883 http://nanbyodata.jp/ontology/NANDO_2200883 parent H00998 NANDO:2200883 H00998 http://www.geneontology.org/formats/oboInOwl#hasDbXref 小児交互性片麻痺 Alternating hemiplegia of childhood https://identifiers.org/kegg.disease:H00998 NANDO:2200888 http://nanbyodata.jp/ontology/NANDO_2200888 parent H01177 NANDO:2200888 H01177 http://www.geneontology.org/formats/oboInOwl#hasDbXref 乳児両側性線条体壊死 Infantile bilateral striatal necrosis https://identifiers.org/kegg.disease:H01177 NANDO:2200918 http://nanbyodata.jp/ontology/NANDO_2200918 parent H01222 NANDO:2200918 H01222 http://www.geneontology.org/formats/oboInOwl#hasDbXref カウデン症候群 Cowden syndrome https://identifiers.org/kegg.disease:H01222 NANDO:2200946 http://nanbyodata.jp/ontology/NANDO_2200946 parent H01276 NANDO:2200946 H01276 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性特発性偽性腸閉塞症 CIIP https://identifiers.org/kegg.disease:H01276 H01276 NANDO:2200946 H01276 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性特発性偽性腸閉塞症 Chronic idiopathic intestinal pseudo-obstruction https://identifiers.org/kegg.disease:H01276 NANDO:2200878 http://nanbyodata.jp/ontology/NANDO_2200878 parent H01460 NANDO:2200878 H01460 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウエスト症候群 Infantile spasms https://identifiers.org/kegg.disease:H01460 H01460 NANDO:2200878 H01460 http://www.geneontology.org/formats/oboInOwl#hasDbXref 点頭てんかん Infantile spasms https://identifiers.org/kegg.disease:H01460 H01460 NANDO:2200878 H01460 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウエスト症候群 West syndrome https://identifiers.org/kegg.disease:H01460 H01460 NANDO:2200878 H01460 http://www.geneontology.org/formats/oboInOwl#hasDbXref 点頭てんかん West syndrome https://identifiers.org/kegg.disease:H01460 NANDO:2200920 http://nanbyodata.jp/ontology/NANDO_2200920 parent H01466 NANDO:2200920 H01466 http://www.geneontology.org/formats/oboInOwl#hasDbXref 潰瘍性大腸炎 Ulcerative colitis https://identifiers.org/kegg.disease:H01466 NANDO:2200944 http://nanbyodata.jp/ontology/NANDO_2200944 parent H01469 NANDO:2200944 H01469 http://www.geneontology.org/formats/oboInOwl#hasDbXref 短腸症候群 Short bowel syndrome https://identifiers.org/kegg.disease:H01469 NANDO:2200904 http://nanbyodata.jp/ontology/NANDO_2200904 parent H01490 NANDO:2200904 H01490 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多発性硬化症 Multiple sclerosis https://identifiers.org/kegg.disease:H01490 NANDO:2200905 http://nanbyodata.jp/ontology/NANDO_2200905 parent H01527 NANDO:2200905 H01527 http://www.geneontology.org/formats/oboInOwl#hasDbXref 多巣性運動ニューロパチー Chronic inflammatory demyelinating polyradiculoneuropathy https://identifiers.org/kegg.disease:H01527 H01527 NANDO:2200905 H01527 http://www.geneontology.org/formats/oboInOwl#hasDbXref 慢性炎症性脱髄性多発神経炎 Chronic inflammatory demyelinating polyradiculoneuropathy https://identifiers.org/kegg.disease:H01527 NANDO:2200906 http://nanbyodata.jp/ontology/NANDO_2200906 parent H01594 NANDO:2200906 H01594 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症筋無力症 Myasthenia gravis https://identifiers.org/kegg.disease:H01594 NANDO:2200882 http://nanbyodata.jp/ontology/NANDO_2200882 parent H01616 NANDO:2200882 H01616 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脊髄小脳変性症 Spinocerebellar degeneration https://identifiers.org/kegg.disease:H01616 NANDO:2200929 http://nanbyodata.jp/ontology/NANDO_2200929 parent H01684 NANDO:2200929 H01684 http://www.geneontology.org/formats/oboInOwl#hasDbXref 原発性硬化性胆管炎 Primary sclerosing cholangitis https://identifiers.org/kegg.disease:H01684 NANDO:2200928 http://nanbyodata.jp/ontology/NANDO_2200928 parent H01685 NANDO:2200928 H01685 http://www.geneontology.org/formats/oboInOwl#hasDbXref 自己免疫性肝炎 Autoimmune hepatitis https://identifiers.org/kegg.disease:H01685 NANDO:2200899 http://nanbyodata.jp/ontology/NANDO_2200899 parent H01696 NANDO:2200899 H01696 http://www.geneontology.org/formats/oboInOwl#hasDbXref 亜急性硬化性全脳炎 Subacute sclerosing panencephalitis https://identifiers.org/kegg.disease:H01696 NANDO:2200876 http://nanbyodata.jp/ontology/NANDO_2200876 parent H01777 NANDO:2200876 H01777 http://www.geneontology.org/formats/oboInOwl#hasDbXref シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome https://identifiers.org/kegg.disease:H01777 NANDO:2200900 http://nanbyodata.jp/ontology/NANDO_2200900 parent H01812 NANDO:2200900 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン脳炎 Rasmussen encephalitis https://identifiers.org/kegg.disease:H01812 H01812 NANDO:2200900 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン症候群 Rasmussen encephalitis https://identifiers.org/kegg.disease:H01812 H01812 NANDO:2200900 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン脳炎 Rasmussen syndrome https://identifiers.org/kegg.disease:H01812 H01812 NANDO:2200900 H01812 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラスムッセン症候群 Rasmussen syndrome https://identifiers.org/kegg.disease:H01812 NANDO:2200879 http://nanbyodata.jp/ontology/NANDO_2200879 parent H01813 NANDO:2200879 H01813 http://www.geneontology.org/formats/oboInOwl#hasDbXref レノックス・ガストー症候群 Lennox-Gastaut syndrome https://identifiers.org/kegg.disease:H01813 NANDO:2200903 http://nanbyodata.jp/ontology/NANDO_2200903 parent H01829 NANDO:2200903 H01829 http://www.geneontology.org/formats/oboInOwl#hasDbXref 難治頻回部分発作重積型急性脳炎 Acute encephalitis with refractory repetitive partial seizures https://identifiers.org/kegg.disease:H01829 NANDO:2200901 http://nanbyodata.jp/ontology/NANDO_2200901 parent H01841 NANDO:2200901 H01841 http://www.geneontology.org/formats/oboInOwl#hasDbXref 痙攣重積型 (二相性) 急性脳症 Acute encephalopathy with biphasic seizures and late reduced diffusion https://identifiers.org/kegg.disease:H01841 NANDO:2200925 http://nanbyodata.jp/ontology/NANDO_2200925 parent H01853 NANDO:2200925 H01853 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非特異性多発性小腸潰瘍症 Chronic nonspecific multiple ulcers of the small intestine https://identifiers.org/kegg.disease:H01853 NANDO:2200930 http://nanbyodata.jp/ontology/NANDO_2200930 parent H01855 NANDO:2200930 H01855 http://www.geneontology.org/formats/oboInOwl#hasDbXref 胆道閉鎖症 Biliary atresia https://identifiers.org/kegg.disease:H01855 NANDO:2200947 http://nanbyodata.jp/ontology/NANDO_2200947 parent H01869 NANDO:2200947 H01869 http://www.geneontology.org/formats/oboInOwl#hasDbXref 巨大膀胱短小結腸腸管蠕動不全症 Megacystis microcolon intestinal hypoperistalsis syndrome https://identifiers.org/kegg.disease:H01869 NANDO:2200948 http://nanbyodata.jp/ontology/NANDO_2200948 parent H01871 NANDO:2200948 H01871 http://www.geneontology.org/formats/oboInOwl#hasDbXref 腸管神経節細胞僅少症 Isolated hypoganglionosis https://identifiers.org/kegg.disease:H01871 NANDO:2200924 http://nanbyodata.jp/ontology/NANDO_2200924 parent H01971 NANDO:2200924 H01971 http://www.geneontology.org/formats/oboInOwl#hasDbXref IPEX 症候群 IPEX syndrome https://identifiers.org/kegg.disease:H01971 H01971 NANDO:2200924 H01971 http://www.geneontology.org/formats/oboInOwl#hasDbXref IPEX 症候群 Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome https://identifiers.org/kegg.disease:H01971 NANDO:2200881 http://nanbyodata.jp/ontology/NANDO_2200881 parent H01994 NANDO:2200881 H01994 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラフォラ病 Lafora disease https://identifiers.org/kegg.disease:H01994 NANDO:2200880 http://nanbyodata.jp/ontology/NANDO_2200880 parent H01995 NANDO:2200880 H01995 http://www.geneontology.org/formats/oboInOwl#hasDbXref Unverricht-Lundborg 病 Unverricht-Lundborg disease https://identifiers.org/kegg.disease:H01995 H01995 NANDO:2200880 H01995 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性ミオクローヌスてんかん 1 型 Unverricht-Lundborg disease https://identifiers.org/kegg.disease:H01995 H01995 NANDO:2200880 H01995 http://www.geneontology.org/formats/oboInOwl#hasDbXref Unverricht-Lundborg 病 Epilepsy, progressive myoclonic 1 https://identifiers.org/kegg.disease:H01995 H01995 NANDO:2200880 H01995 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性ミオクローヌスてんかん 1 型 Epilepsy, progressive myoclonic 1 https://identifiers.org/kegg.disease:H01995 NANDO:2200941 http://nanbyodata.jp/ontology/NANDO_2200941 parent H02054 NANDO:2200941 H02054 http://www.geneontology.org/formats/oboInOwl#hasDbXref クリグラー・ナジャー症候群 Crigler-Najjar syndrome https://identifiers.org/kegg.disease:H02054 NANDO:2200886 http://nanbyodata.jp/ontology/NANDO_2200886 parent H02208 NANDO:2200886 H02208 http://www.geneontology.org/formats/oboInOwl#hasDbXref パントテン酸キナーゼ関連神経変性症 Pantothenate kinase-associated neurodegeneration https://identifiers.org/kegg.disease:H02208 H02208 NANDO:2200886 H02208 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハラーフォルデン・シュパッツ病 Pantothenate kinase-associated neurodegeneration https://identifiers.org/kegg.disease:H02208 H02208 NANDO:2200886 H02208 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳の鉄沈着を伴う神経変性症 1型 Pantothenate kinase-associated neurodegeneration https://identifiers.org/kegg.disease:H02208 H02208 NANDO:2200886 H02208 http://www.geneontology.org/formats/oboInOwl#hasDbXref パントテン酸キナーゼ関連神経変性症 Hallervorden-Spatz disease https://identifiers.org/kegg.disease:H02208 H02208 NANDO:2200886 H02208 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハラーフォルデン・シュパッツ病 Hallervorden-Spatz disease https://identifiers.org/kegg.disease:H02208 H02208 NANDO:2200886 H02208 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳の鉄沈着を伴う神経変性症 1型 Hallervorden-Spatz disease https://identifiers.org/kegg.disease:H02208 H02208 NANDO:2200886 H02208 http://www.geneontology.org/formats/oboInOwl#hasDbXref パントテン酸キナーゼ関連神経変性症 Neurodegeneration with brain iron accumulation 1 https://identifiers.org/kegg.disease:H02208 H02208 NANDO:2200886 H02208 http://www.geneontology.org/formats/oboInOwl#hasDbXref ハラーフォルデン・シュパッツ病 Neurodegeneration with brain iron accumulation 1 https://identifiers.org/kegg.disease:H02208 H02208 NANDO:2200886 H02208 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脳の鉄沈着を伴う神経変性症 1型 Neurodegeneration with brain iron accumulation 1 https://identifiers.org/kegg.disease:H02208 NANDO:2200979 http://nanbyodata.jp/ontology/NANDO_2200979 parent H00161 NANDO:2200979 H00161 http://www.geneontology.org/formats/oboInOwl#hasDbXref スミス・レムリ・オピッツ症候群 Smith-Lemli-Opitz syndrome https://identifiers.org/kegg.disease:H00161 NANDO:2200994 http://nanbyodata.jp/ontology/NANDO_2200994 parent H00162 NANDO:2200994 H00162 http://www.geneontology.org/formats/oboInOwl#hasDbXref シェーグレン・ラルソン症候群 Sjogren-Larsson syndrome https://identifiers.org/kegg.disease:H00162 NANDO:2200986 http://nanbyodata.jp/ontology/NANDO_2200986 parent H00168 NANDO:2200986 H00168 http://www.geneontology.org/formats/oboInOwl#hasDbXref 眼皮膚白皮症 Oculocutaneous albinism https://identifiers.org/kegg.disease:H00168 NANDO:2200970 http://nanbyodata.jp/ontology/NANDO_2200970 parent H00434 NANDO:2200970 H00434 http://www.geneontology.org/formats/oboInOwl#hasDbXref Camurati-Engelmann病 Camurati-Engelmann disease https://identifiers.org/kegg.disease:H00434 H00434 NANDO:2200970 H00434 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性骨幹異形成症 Camurati-Engelmann disease https://identifiers.org/kegg.disease:H00434 H00434 NANDO:2200970 H00434 http://www.geneontology.org/formats/oboInOwl#hasDbXref Camurati-Engelmann病 Progressive diaphyseal dysplasia https://identifiers.org/kegg.disease:H00434 H00434 NANDO:2200970 H00434 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性骨幹異形成症 Progressive diaphyseal dysplasia https://identifiers.org/kegg.disease:H00434 NANDO:2200955 http://nanbyodata.jp/ontology/NANDO_2200955 parent H00504 NANDO:2200955 H00504 http://www.geneontology.org/formats/oboInOwl#hasDbXref ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome https://identifiers.org/kegg.disease:H00504 NANDO:2200972 http://nanbyodata.jp/ontology/NANDO_2200972 parent H00556 NANDO:2200972 H00556 http://www.geneontology.org/formats/oboInOwl#hasDbXref チャージ症候群 CHARGE syndrome https://identifiers.org/kegg.disease:H00556 NANDO:2200956 http://nanbyodata.jp/ontology/NANDO_2200956 parent H00570 NANDO:2200956 H00570 http://www.geneontology.org/formats/oboInOwl#hasDbXref 歌舞伎症候群 Kabuki syndrome https://identifiers.org/kegg.disease:H00570 NANDO:2200952 http://nanbyodata.jp/ontology/NANDO_2200952 parent H00574 NANDO:2200952 H00574 http://www.geneontology.org/formats/oboInOwl#hasDbXref コフィン・ローリー症候群 Coffin-Lowry syndrome https://identifiers.org/kegg.disease:H00574 NANDO:2200958 http://nanbyodata.jp/ontology/NANDO_2200958 parent H00631 NANDO:2200958 H00631 http://www.geneontology.org/formats/oboInOwl#hasDbXref コルネリア・デランゲ症候群 Cornelia de Lange syndrome https://identifiers.org/kegg.disease:H00631 NANDO:2200974 http://nanbyodata.jp/ontology/NANDO_2200974 parent H00645 NANDO:2200974 H00645 http://www.geneontology.org/formats/oboInOwl#hasDbXref 色素失調症 Incontinentia pigmenti https://identifiers.org/kegg.disease:H00645 NANDO:2200968 http://nanbyodata.jp/ontology/NANDO_2200968 parent H00653 NANDO:2200968 H00653 http://www.geneontology.org/formats/oboInOwl#hasDbXref マルファン症候群 Marfan syndrome https://identifiers.org/kegg.disease:H00653 NANDO:2200993 http://nanbyodata.jp/ontology/NANDO_2200993 parent H00671 NANDO:2200993 H00671 http://www.geneontology.org/formats/oboInOwl#hasDbXref ネザートン症候群 Netherton syndrome https://identifiers.org/kegg.disease:H00671 NANDO:2200959 http://nanbyodata.jp/ontology/NANDO_2200959 parent H00713 NANDO:2200959 H00713 http://www.geneontology.org/formats/oboInOwl#hasDbXref ベックウィズ・ウイーデマン症候群 Beckwith-Wiedemann syndrome https://identifiers.org/kegg.disease:H00713 NANDO:2200953 http://nanbyodata.jp/ontology/NANDO_2200953 parent H00718 NANDO:2200953 H00718 http://www.geneontology.org/formats/oboInOwl#hasDbXref ソトス症候群 Sotos syndrome https://identifiers.org/kegg.disease:H00718 NANDO:2200992 http://nanbyodata.jp/ontology/NANDO_2200992 parent H00733 NANDO:2200992 H00733 http://www.geneontology.org/formats/oboInOwl#hasDbXref 道化師様魚鱗癬 Harlequin ichthyosis https://identifiers.org/kegg.disease:H00733 NANDO:2200991 http://nanbyodata.jp/ontology/NANDO_2200991 parent H00734 NANDO:2200991 H00734 http://www.geneontology.org/formats/oboInOwl#hasDbXref 常染色体劣性遺伝性先天性魚鱗癬 Autosomal recessive congenital ichthyosis https://identifiers.org/kegg.disease:H00734 NANDO:2200997 http://nanbyodata.jp/ontology/NANDO_2200997 parent H00736 NANDO:2200997 H00736 http://www.geneontology.org/formats/oboInOwl#hasDbXref ドルフマン・シャナリン症候群 Dorfman-Chanarin syndrome https://identifiers.org/kegg.disease:H00736 H00736 NANDO:2200997 H00736 http://www.geneontology.org/formats/oboInOwl#hasDbXref ドルフマン・シャナリン症候群 Chanarin-Dorfman syndrome https://identifiers.org/kegg.disease:H00736 NANDO:2200969 http://nanbyodata.jp/ontology/NANDO_2200969 parent H00800 NANDO:2200969 H00800 http://www.geneontology.org/formats/oboInOwl#hasDbXref Loeys-Dietz 症候群 Loeys-Dietz syndrome https://identifiers.org/kegg.disease:H00800 NANDO:2200981 http://nanbyodata.jp/ontology/NANDO_2200981 parent H00908 NANDO:2200981 H00908 http://www.geneontology.org/formats/oboInOwl#hasDbXref モワットウィルソン症候群 Mowat-Wilson syndrome https://identifiers.org/kegg.disease:H00908 NANDO:2200978 http://nanbyodata.jp/ontology/NANDO_2200978 parent H01215 NANDO:2200978 H01215 http://www.geneontology.org/formats/oboInOwl#hasDbXref Simpson-Golabi-Behmel 症候群 Simpson-Golabi-Behmel syndrome https://identifiers.org/kegg.disease:H01215 NANDO:2200977 http://nanbyodata.jp/ontology/NANDO_2200977 parent H01403 NANDO:2200977 H01403 http://www.geneontology.org/formats/oboInOwl#hasDbXref コフィン・シリス症候群 Coffin-Siris syndrome https://identifiers.org/kegg.disease:H01403 NANDO:2201002 http://nanbyodata.jp/ontology/NANDO_2201002 parent H01428 NANDO:2201002 H01428 http://www.geneontology.org/formats/oboInOwl#hasDbXref 色素性乾皮症 Xeroderma pigmentosum https://identifiers.org/kegg.disease:H01428 NANDO:2201003 http://nanbyodata.jp/ontology/NANDO_2201003 parent H01437 NANDO:2201003 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref レックリングハウゼン病 Neurofibromatosis type 1 https://identifiers.org/kegg.disease:H01437 H01437 NANDO:2201003 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経線維腫症 I 型 Neurofibromatosis type 1 https://identifiers.org/kegg.disease:H01437 H01437 NANDO:2201003 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref レックリングハウゼン病 Von Recklinghausen disease https://identifiers.org/kegg.disease:H01437 H01437 NANDO:2201003 H01437 http://www.geneontology.org/formats/oboInOwl#hasDbXref 神経線維腫症 I 型 Von Recklinghausen disease https://identifiers.org/kegg.disease:H01437 NANDO:2200965 http://nanbyodata.jp/ontology/NANDO_2200965 parent H01552 NANDO:2200965 H01552 http://www.geneontology.org/formats/oboInOwl#hasDbXref ダウン症候群 Down syndrome https://identifiers.org/kegg.disease:H01552 H01552 NANDO:2200965 H01552 http://www.geneontology.org/formats/oboInOwl#hasDbXref 21 トリソミー Down syndrome https://identifiers.org/kegg.disease:H01552 H01552 NANDO:2200965 H01552 http://www.geneontology.org/formats/oboInOwl#hasDbXref ダウン症候群 Trisomy 21 https://identifiers.org/kegg.disease:H01552 H01552 NANDO:2200965 H01552 http://www.geneontology.org/formats/oboInOwl#hasDbXref 21 トリソミー Trisomy 21 https://identifiers.org/kegg.disease:H01552 NANDO:2201001 http://nanbyodata.jp/ontology/NANDO_2201001 parent H01663 NANDO:2201001 H01663 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膿疱性乾癬 Pustular psoriasis https://identifiers.org/kegg.disease:H01663 NANDO:2201006 http://nanbyodata.jp/ontology/NANDO_2201006 parent H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201006 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Lyell syndrome https://identifiers.org/kegg.disease:H01694 NANDO:2200960 http://nanbyodata.jp/ontology/NANDO_2200960 parent H01732 NANDO:2200960 H01732 http://www.geneontology.org/formats/oboInOwl#hasDbXref アンジェルマン症候群 Angelman syndrome https://identifiers.org/kegg.disease:H01732 NANDO:2201000 http://nanbyodata.jp/ontology/NANDO_2201000 parent H01737 NANDO:2201000 H01737 http://www.geneontology.org/formats/oboInOwl#hasDbXref 表皮水疱症 Epidermolysis bullosa https://identifiers.org/kegg.disease:H01737 NANDO:2200971 http://nanbyodata.jp/ontology/NANDO_2200971 parent H01747 NANDO:2200971 H01747 http://www.geneontology.org/formats/oboInOwl#hasDbXref コステロ症候群 Costello syndrome https://identifiers.org/kegg.disease:H01747 NANDO:2200957 http://nanbyodata.jp/ontology/NANDO_2200957 parent H01751 NANDO:2200957 H01751 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィーバー症候群 Weaver syndrome https://identifiers.org/kegg.disease:H01751 NANDO:2200975 http://nanbyodata.jp/ontology/NANDO_2200975 parent H01753 NANDO:2200975 H01753 http://www.geneontology.org/formats/oboInOwl#hasDbXref アントレー・ビクスラー症候群 Antley-Bixler syndrome https://identifiers.org/kegg.disease:H01753 NANDO:2200976 http://nanbyodata.jp/ontology/NANDO_2200976 parent H01756 NANDO:2200976 H01756 http://www.geneontology.org/formats/oboInOwl#hasDbXref ファイファー症候群 Pfeiffer syndrome https://identifiers.org/kegg.disease:H01756 NANDO:2200954 http://nanbyodata.jp/ontology/NANDO_2200954 parent H01791 NANDO:2200954 H01791 http://www.geneontology.org/formats/oboInOwl#hasDbXref スミス・マギニス症候群 Smith-Magenis syndrome https://identifiers.org/kegg.disease:H01791 NANDO:2200982 http://nanbyodata.jp/ontology/NANDO_2200982 parent H01793 NANDO:2200982 H01793 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヤング・シンプソン症候群 Young-Simpson syndrome https://identifiers.org/kegg.disease:H01793 H01793 NANDO:2200982 H01793 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヤング・シンプソン症候群 Say-Barber-Biesecker-Young-Simpson syndrome https://identifiers.org/kegg.disease:H01793 H01793 NANDO:2200982 H01793 http://www.geneontology.org/formats/oboInOwl#hasDbXref ヤング・シンプソン症候群 Say-Barber-Biesecker variant of Ohdo syndrome https://identifiers.org/kegg.disease:H01793 NANDO:2200980 http://nanbyodata.jp/ontology/NANDO_2200980 parent H01840 NANDO:2200980 H01840 http://www.geneontology.org/formats/oboInOwl#hasDbXref メビウス症候群 Moebius syndrome https://identifiers.org/kegg.disease:H01840 H01840 NANDO:2200980 H01840 http://www.geneontology.org/formats/oboInOwl#hasDbXref メビウス症候群 Mobius syndrome https://identifiers.org/kegg.disease:H01840 NANDO:2200951 http://nanbyodata.jp/ontology/NANDO_2200951 parent H01856 NANDO:2200951 H01856 http://www.geneontology.org/formats/oboInOwl#hasDbXref 総排泄腔外反症 Cloacal exstrophy https://identifiers.org/kegg.disease:H01856 H01856 NANDO:2200951 H01856 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膀胱腸裂 Cloacal exstrophy https://identifiers.org/kegg.disease:H01856 H01856 NANDO:2200951 H01856 http://www.geneontology.org/formats/oboInOwl#hasDbXref 総排泄腔外反症 Vesicointestinal fissure https://identifiers.org/kegg.disease:H01856 H01856 NANDO:2200951 H01856 http://www.geneontology.org/formats/oboInOwl#hasDbXref 膀胱腸裂 Vesicointestinal fissure https://identifiers.org/kegg.disease:H01856 NANDO:2200950 http://nanbyodata.jp/ontology/NANDO_2200950 parent H01858 NANDO:2200950 H01858 http://www.geneontology.org/formats/oboInOwl#hasDbXref 総排泄腔遺残 Persistent cloaca https://identifiers.org/kegg.disease:H01858 NANDO:2201190 http://nanbyodata.jp/ontology/NANDO_2201190 parent H00140 NANDO:2201190 H00140 http://www.geneontology.org/formats/oboInOwl#hasDbXref β-マンノシドーシス beta-Mannosidosis https://identifiers.org/kegg.disease:H00140 NANDO:2201012 http://nanbyodata.jp/ontology/NANDO_2201012 parent H00213 NANDO:2201012 H00213 http://www.geneontology.org/formats/oboInOwl#hasDbXref 低ホスファターゼ症 Hypophosphatasia https://identifiers.org/kegg.disease:H00213 NANDO:2201023 http://nanbyodata.jp/ontology/NANDO_2201023 parent H00273 NANDO:2201023 H00273 http://www.geneontology.org/formats/oboInOwl#hasDbXref 濃化異骨症 Pycnodysostosis https://identifiers.org/kegg.disease:H00273 NANDO:2201020 http://nanbyodata.jp/ontology/NANDO_2201020 parent H00430 NANDO:2201020 H00430 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性骨化性線維異形成症 Fibrodysplasia ossificans progressiva https://identifiers.org/kegg.disease:H00430 H00430 NANDO:2201020 H00430 http://www.geneontology.org/formats/oboInOwl#hasDbXref 進行性骨化線維増殖症 Fibrodysplasia ossificans progressiva https://identifiers.org/kegg.disease:H00430 NANDO:2201392 http://nanbyodata.jp/ontology/NANDO_2201392 parent H00433 NANDO:2201392 H00433 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホルト・オラム症候群 Holt-Oram syndrome https://identifiers.org/kegg.disease:H00433 NANDO:2201013 http://nanbyodata.jp/ontology/NANDO_2201013 parent H00436 NANDO:2201013 H00436 http://www.geneontology.org/formats/oboInOwl#hasDbXref 大理石骨病 Osteopetrosis https://identifiers.org/kegg.disease:H00436 NANDO:2201361 http://nanbyodata.jp/ontology/NANDO_2201361 parent H00447 NANDO:2201361 H00447 http://www.geneontology.org/formats/oboInOwl#hasDbXref グリーンバーグ骨異形成症 Greenberg dysplasia https://identifiers.org/kegg.disease:H00447 H00447 NANDO:2201361 H00447 http://www.geneontology.org/formats/oboInOwl#hasDbXref グリーンバーグ骨異形成症 HEM skeletal dysplasia https://identifiers.org/kegg.disease:H00447 NANDO:2201024 http://nanbyodata.jp/ontology/NANDO_2201024 parent H00452 NANDO:2201024 H00452 http://www.geneontology.org/formats/oboInOwl#hasDbXref 骨斑紋症 Osteopoikilosis https://identifiers.org/kegg.disease:H00452 H00452 NANDO:2201024 H00452 http://www.geneontology.org/formats/oboInOwl#hasDbXref ブシュケ‐オレンドルフ症候群 Osteopoikilosis https://identifiers.org/kegg.disease:H00452 H00452 NANDO:2201024 H00452 http://www.geneontology.org/formats/oboInOwl#hasDbXref 骨斑紋症 Buschke-Ollendorff syndrome https://identifiers.org/kegg.disease:H00452 H00452 NANDO:2201024 H00452 http://www.geneontology.org/formats/oboInOwl#hasDbXref ブシュケ‐オレンドルフ症候群 Buschke-Ollendorff syndrome https://identifiers.org/kegg.disease:H00452 NANDO:2201018 http://nanbyodata.jp/ontology/NANDO_2201018 parent H00477 NANDO:2201018 H00477 http://www.geneontology.org/formats/oboInOwl#hasDbXref 偽軟骨異形成症 Pseudoachondroplasia https://identifiers.org/kegg.disease:H00477 NANDO:2201367 http://nanbyodata.jp/ontology/NANDO_2201367 parent H00479 NANDO:2201367 H00479 http://www.geneontology.org/formats/oboInOwl#hasDbXref 骨幹端異形成症 Metaphyseal dysplasias https://identifiers.org/kegg.disease:H00479 NANDO:2201366 http://nanbyodata.jp/ontology/NANDO_2201366 parent H00491 NANDO:2201366 H00491 http://www.geneontology.org/formats/oboInOwl#hasDbXref 頭蓋骨幹異形成症 Craniometaphyseal dysplasia https://identifiers.org/kegg.disease:H00491 NANDO:2201368 http://nanbyodata.jp/ontology/NANDO_2201368 parent H00491 NANDO:2201368 H00491 http://www.geneontology.org/formats/oboInOwl#hasDbXref 頭蓋骨幹異形成症 Craniometaphyseal dysplasia https://identifiers.org/kegg.disease:H00491 NANDO:2201011 http://nanbyodata.jp/ontology/NANDO_2201011 parent H00506 NANDO:2201011 H00506 http://www.geneontology.org/formats/oboInOwl#hasDbXref 骨形成不全症 Osteogenesis imperfecta https://identifiers.org/kegg.disease:H00506 NANDO:2201348 http://nanbyodata.jp/ontology/NANDO_2201348 parent H00519 NANDO:2201348 H00519 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性脊椎骨端異形成 Spondyloepiphyseal dysplasia congenita https://identifiers.org/kegg.disease:H00519 NANDO:2201034 http://nanbyodata.jp/ontology/NANDO_2201034 parent H00533 NANDO:2201034 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref オスラー病 Hereditary hemorrhagic telangiectasia https://identifiers.org/kegg.disease:H00533 H00533 NANDO:2201034 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性出血性毛細血管拡張症 Hereditary hemorrhagic telangiectasia https://identifiers.org/kegg.disease:H00533 H00533 NANDO:2201034 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref オスラー病 Osler disease https://identifiers.org/kegg.disease:H00533 H00533 NANDO:2201034 H00533 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性出血性毛細血管拡張症 Osler disease https://identifiers.org/kegg.disease:H00533 NANDO:2201341 http://nanbyodata.jp/ontology/NANDO_2201341 parent H00584 NANDO:2201341 H00584 http://www.geneontology.org/formats/oboInOwl#hasDbXref 単純型表皮水疱症 Epidermolysis bullosa simplex https://identifiers.org/kegg.disease:H00584 NANDO:2201342 http://nanbyodata.jp/ontology/NANDO_2201342 parent H00586 NANDO:2201342 H00586 http://www.geneontology.org/formats/oboInOwl#hasDbXref 接合部型表皮水疱症 Epidermolysis bullosa, junctional https://identifiers.org/kegg.disease:H00586 NANDO:2201343 http://nanbyodata.jp/ontology/NANDO_2201343 parent H00587 NANDO:2201343 H00587 http://www.geneontology.org/formats/oboInOwl#hasDbXref 栄養障害型表皮水疱症 Epidermolysis bullosa, dystrophica https://identifiers.org/kegg.disease:H00587 NANDO:2201398 http://nanbyodata.jp/ontology/NANDO_2201398 parent H00606 NANDO:2201398 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 大田原症候群 Ohtahara syndrome https://identifiers.org/kegg.disease:H00606 H00606 NANDO:2201398 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 早期乳児てんかん性脳症 Ohtahara syndrome https://identifiers.org/kegg.disease:H00606 H00606 NANDO:2201398 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 発達性およびてんかん性脳症 Ohtahara syndrome https://identifiers.org/kegg.disease:H00606 H00606 NANDO:2201398 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 大田原症候群 Developmental and epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 H00606 NANDO:2201398 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 早期乳児てんかん性脳症 Developmental and epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 H00606 NANDO:2201398 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 発達性およびてんかん性脳症 Developmental and epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 H00606 NANDO:2201398 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 大田原症候群 Early infantile epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 H00606 NANDO:2201398 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 早期乳児てんかん性脳症 Early infantile epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 H00606 NANDO:2201398 H00606 http://www.geneontology.org/formats/oboInOwl#hasDbXref 発達性およびてんかん性脳症 Early infantile epileptic encephalopathy https://identifiers.org/kegg.disease:H00606 NANDO:2201292 http://nanbyodata.jp/ontology/NANDO_2201292 parent H00650 NANDO:2201292 H00650 http://www.geneontology.org/formats/oboInOwl#hasDbXref Allan-Herndon-Dudley 症候群 Allan-Herndon-Dudley syndrome https://identifiers.org/kegg.disease:H00650 H00650 NANDO:2201292 H00650 http://www.geneontology.org/formats/oboInOwl#hasDbXref Allan-Herndon-Dudley 症候群 Monocarboxylate transporter 8 deficiency https://identifiers.org/kegg.disease:H00650 NANDO:2201410 http://nanbyodata.jp/ontology/NANDO_2201410 parent H01247 NANDO:2201410 H01247 http://www.geneontology.org/formats/oboInOwl#hasDbXref ピリドキシン依存性てんかん Pyridoxine-dependent epilepsy https://identifiers.org/kegg.disease:H01247 NANDO:2201032 http://nanbyodata.jp/ontology/NANDO_2201032 parent H01471 NANDO:2201032 H01471 http://www.geneontology.org/formats/oboInOwl#hasDbXref リンパ管腫 Lymphangioma https://identifiers.org/kegg.disease:H01471 NANDO:2201322 http://nanbyodata.jp/ontology/NANDO_2201322 parent H01491 NANDO:2201322 H01491 http://www.geneontology.org/formats/oboInOwl#hasDbXref 視神経脊髄炎 Neuromyelitis optica https://identifiers.org/kegg.disease:H01491 H01491 NANDO:2201322 H01491 http://www.geneontology.org/formats/oboInOwl#hasDbXref デビック病 Neuromyelitis optica https://identifiers.org/kegg.disease:H01491 H01491 NANDO:2201322 H01491 http://www.geneontology.org/formats/oboInOwl#hasDbXref 視神経脊髄炎 Devic disease https://identifiers.org/kegg.disease:H01491 H01491 NANDO:2201322 H01491 http://www.geneontology.org/formats/oboInOwl#hasDbXref デビック病 Devic disease https://identifiers.org/kegg.disease:H01491 NANDO:2201007 http://nanbyodata.jp/ontology/NANDO_2201007 parent H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Stevens-Johnson syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Toxic epidermal necrolysis https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 中毒性表皮壊死症 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref ライエル症候群 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref スティーブンス・ジョンソン症候群 Lyell syndrome https://identifiers.org/kegg.disease:H01694 H01694 NANDO:2201007 H01694 http://www.geneontology.org/formats/oboInOwl#hasDbXref 重症多形滲出性紅斑 Lyell syndrome https://identifiers.org/kegg.disease:H01694 NANDO:2201385 http://nanbyodata.jp/ontology/NANDO_2201385 parent H01722 NANDO:2201385 H01722 http://www.geneontology.org/formats/oboInOwl#hasDbXref ギャロウェイ・モワト症候群 Galloway-Mowat syndrome https://identifiers.org/kegg.disease:H01722 NANDO:2201033 http://nanbyodata.jp/ontology/NANDO_2201033 parent H01735 NANDO:2201033 H01735 http://www.geneontology.org/formats/oboInOwl#hasDbXref リンパ管腫症 Lymphangiomatosis https://identifiers.org/kegg.disease:H01735 NANDO:2201009 http://nanbyodata.jp/ontology/NANDO_2201009 parent H01749 NANDO:2201009 H01749 http://www.geneontology.org/formats/oboInOwl#hasDbXref 軟骨無形成症 Achondroplasia https://identifiers.org/kegg.disease:H01749 NANDO:2201397 http://nanbyodata.jp/ontology/NANDO_2201397 parent H01776 NANDO:2201397 H01776 http://www.geneontology.org/formats/oboInOwl#hasDbXref アイカルディ症候群 Aicardi syndrome https://identifiers.org/kegg.disease:H01776 NANDO:2201030 http://nanbyodata.jp/ontology/NANDO_2201030 parent H01788 NANDO:2201030 H01788 http://www.geneontology.org/formats/oboInOwl#hasDbXref クリッペル・トレノネー・ウェーバー症候群 Klippel-Trenaunay-Weber syndrome https://identifiers.org/kegg.disease:H01788 NANDO:2201408 http://nanbyodata.jp/ontology/NANDO_2201408 parent H01815 NANDO:2201408 H01815 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遊走性焦点発作を伴う乳児てんかん Malignant migrating partial seizures in infancy https://identifiers.org/kegg.disease:H01815 NANDO:2201403 http://nanbyodata.jp/ontology/NANDO_2201403 parent H01819 NANDO:2201403 H01819 http://www.geneontology.org/formats/oboInOwl#hasDbXref 早期ミオクロニー脳症 Early myoclonic encephalopathy https://identifiers.org/kegg.disease:H01819 NANDO:2201406 http://nanbyodata.jp/ontology/NANDO_2201406 parent H01822 NANDO:2201406 H01822 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミオクロニー欠神てんかん Epilepsy with myoclonic absence https://identifiers.org/kegg.disease:H01822 NANDO:2201407 http://nanbyodata.jp/ontology/NANDO_2201407 parent H01823 NANDO:2201407 H01823 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミオクロニー脱力発作を伴うてんかん Doose syndrome https://identifiers.org/kegg.disease:H01823 H01823 NANDO:2201407 H01823 http://www.geneontology.org/formats/oboInOwl#hasDbXref ドーゼ症候群 Doose syndrome https://identifiers.org/kegg.disease:H01823 H01823 NANDO:2201407 H01823 http://www.geneontology.org/formats/oboInOwl#hasDbXref ミオクロニー脱力発作を伴うてんかん Myoclonic-astatic epilepsy https://identifiers.org/kegg.disease:H01823 H01823 NANDO:2201407 H01823 http://www.geneontology.org/formats/oboInOwl#hasDbXref ドーゼ症候群 Myoclonic-astatic epilepsy https://identifiers.org/kegg.disease:H01823 NANDO:2201399 http://nanbyodata.jp/ontology/NANDO_2201399 parent H01831 NANDO:2201399 H01831 http://www.geneontology.org/formats/oboInOwl#hasDbXref 環状２０番染色体症候群 Ring chromosome 20 syndrome https://identifiers.org/kegg.disease:H01831 NANDO:2201394 http://nanbyodata.jp/ontology/NANDO_2201394 parent H01833 NANDO:2201394 H01833 http://www.geneontology.org/formats/oboInOwl#hasDbXref 片側巨脳症 Hemimegalencephaly https://identifiers.org/kegg.disease:H01833 NANDO:2201417 http://nanbyodata.jp/ontology/NANDO_2201417 parent H01879 NANDO:2201417 H01879 http://www.geneontology.org/formats/oboInOwl#hasDbXref Alazami-Yuan 症候群 Wiedemann-Steiner syndrome https://identifiers.org/kegg.disease:H01879 H01879 NANDO:2201417 H01879 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィデマンスタイナー症候群 Wiedemann-Steiner syndrome https://identifiers.org/kegg.disease:H01879 H01879 NANDO:2201417 H01879 http://www.geneontology.org/formats/oboInOwl#hasDbXref Alazami-Yuan 症候群 Alazami-Yuan syndrome https://identifiers.org/kegg.disease:H01879 H01879 NANDO:2201417 H01879 http://www.geneontology.org/formats/oboInOwl#hasDbXref ウィデマンスタイナー症候群 Alazami-Yuan syndrome https://identifiers.org/kegg.disease:H01879 NANDO:2201152 http://nanbyodata.jp/ontology/NANDO_2201152 parent H01949 NANDO:2201152 H01949 http://www.geneontology.org/formats/oboInOwl#hasDbXref 筋グリコーゲン合成酵素欠損症 Glycogen storage disease type 0b https://identifiers.org/kegg.disease:H01949 H01949 NANDO:2201152 H01949 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 0b 型 Glycogen storage disease type 0b https://identifiers.org/kegg.disease:H01949 H01949 NANDO:2201152 H01949 http://www.geneontology.org/formats/oboInOwl#hasDbXref 筋グリコーゲン合成酵素欠損症 Muscle glycogen synthase deficiency https://identifiers.org/kegg.disease:H01949 H01949 NANDO:2201152 H01949 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 0b 型 Muscle glycogen synthase deficiency https://identifiers.org/kegg.disease:H01949 NANDO:2201151 http://nanbyodata.jp/ontology/NANDO_2201151 parent H01950 NANDO:2201151 H01950 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 0a 型 Glycogen storage disease type 0a https://identifiers.org/kegg.disease:H01950 H01950 NANDO:2201151 H01950 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝グリコーゲン合成酵素欠損症 Glycogen storage disease type 0a https://identifiers.org/kegg.disease:H01950 H01950 NANDO:2201151 H01950 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 0a 型 Liver glycogen synthase deficiency https://identifiers.org/kegg.disease:H01950 H01950 NANDO:2201151 H01950 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝グリコーゲン合成酵素欠損症 Liver glycogen synthase deficiency https://identifiers.org/kegg.disease:H01950 NANDO:2201199 http://nanbyodata.jp/ontology/NANDO_2201199 parent H02016 NANDO:2201199 H02016 http://www.geneontology.org/formats/oboInOwl#hasDbXref テイ・サックス病 Tay-Sachs disease https://identifiers.org/kegg.disease:H02016 H02016 NANDO:2201199 H02016 http://www.geneontology.org/formats/oboInOwl#hasDbXref GM2 ガングリオシドーシス I 型 Tay-Sachs disease https://identifiers.org/kegg.disease:H02016 H02016 NANDO:2201199 H02016 http://www.geneontology.org/formats/oboInOwl#hasDbXref テイ・サックス病 GM2 gangliosidoses type I https://identifiers.org/kegg.disease:H02016 H02016 NANDO:2201199 H02016 http://www.geneontology.org/formats/oboInOwl#hasDbXref GM2 ガングリオシドーシス I 型 GM2 gangliosidoses type I https://identifiers.org/kegg.disease:H02016 NANDO:2201200 http://nanbyodata.jp/ontology/NANDO_2201200 parent H02017 NANDO:2201200 H02017 http://www.geneontology.org/formats/oboInOwl#hasDbXref サンドホフ病 Sandhoff disease https://identifiers.org/kegg.disease:H02017 H02017 NANDO:2201200 H02017 http://www.geneontology.org/formats/oboInOwl#hasDbXref GM2 ガングリオシドーシス II 型 Sandhoff disease https://identifiers.org/kegg.disease:H02017 H02017 NANDO:2201200 H02017 http://www.geneontology.org/formats/oboInOwl#hasDbXref サンドホフ病 GM2 gangliosidoses type II https://identifiers.org/kegg.disease:H02017 H02017 NANDO:2201200 H02017 http://www.geneontology.org/formats/oboInOwl#hasDbXref GM2 ガングリオシドーシス II 型 GM2 gangliosidoses type II https://identifiers.org/kegg.disease:H02017 NANDO:2201019 http://nanbyodata.jp/ontology/NANDO_2201019 parent H02048 NANDO:2201019 H02048 http://www.geneontology.org/formats/oboInOwl#hasDbXref ラーセン症候群 Larsen syndrome https://identifiers.org/kegg.disease:H02048 NANDO:2201010 http://nanbyodata.jp/ontology/NANDO_2201010 parent H02068 NANDO:2201010 H02068 http://www.geneontology.org/formats/oboInOwl#hasDbXref 軟骨低形成症 Hypochondroplasia https://identifiers.org/kegg.disease:H02068 NANDO:2201350 http://nanbyodata.jp/ontology/NANDO_2201350 parent H02070 NANDO:2201350 H02070 http://www.geneontology.org/formats/oboInOwl#hasDbXref Kniest 異形成症 Kniest dysplasia https://identifiers.org/kegg.disease:H02070 NANDO:2201068 http://nanbyodata.jp/ontology/NANDO_2201068 parent H02159 NANDO:2201068 H02159 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性寒冷自己炎症症候群 Familial cold autoinflammatory syndrome https://identifiers.org/kegg.disease:H02159 H02159 NANDO:2201068 H02159 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性寒冷じんま疹 Familial cold autoinflammatory syndrome https://identifiers.org/kegg.disease:H02159 H02159 NANDO:2201068 H02159 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性寒冷自己炎症症候群 Familial cold urticaria https://identifiers.org/kegg.disease:H02159 H02159 NANDO:2201068 H02159 http://www.geneontology.org/formats/oboInOwl#hasDbXref 家族性寒冷じんま疹 Familial cold urticaria https://identifiers.org/kegg.disease:H02159 NANDO:2201243 http://nanbyodata.jp/ontology/NANDO_2201243 parent H02275 NANDO:2201243 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref 若年型神経セロイドリポフスチン症 Batten disease https://identifiers.org/kegg.disease:H02275 H02275 NANDO:2201243 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref Spielmeyer-Vogt 病 Batten disease https://identifiers.org/kegg.disease:H02275 H02275 NANDO:2201243 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref バッテン病 Batten disease https://identifiers.org/kegg.disease:H02275 H02275 NANDO:2201243 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref 若年型神経セロイドリポフスチン症 Juvenile neuronal ceroid lipofuscinoses https://identifiers.org/kegg.disease:H02275 H02275 NANDO:2201243 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref Spielmeyer-Vogt 病 Juvenile neuronal ceroid lipofuscinoses https://identifiers.org/kegg.disease:H02275 H02275 NANDO:2201243 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref バッテン病 Juvenile neuronal ceroid lipofuscinoses https://identifiers.org/kegg.disease:H02275 H02275 NANDO:2201243 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref 若年型神経セロイドリポフスチン症 Spielmeyer-Vogt disease https://identifiers.org/kegg.disease:H02275 H02275 NANDO:2201243 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref Spielmeyer-Vogt 病 Spielmeyer-Vogt disease https://identifiers.org/kegg.disease:H02275 H02275 NANDO:2201243 H02275 http://www.geneontology.org/formats/oboInOwl#hasDbXref バッテン病 Spielmeyer-Vogt disease https://identifiers.org/kegg.disease:H02275 NANDO:2201244 http://nanbyodata.jp/ontology/NANDO_2201244 parent H02276 NANDO:2201244 H02276 http://www.geneontology.org/formats/oboInOwl#hasDbXref 成人型神経セロイドリポフスチン症 Kufs disease https://identifiers.org/kegg.disease:H02276 H02276 NANDO:2201244 H02276 http://www.geneontology.org/formats/oboInOwl#hasDbXref Kufs 病 Kufs disease https://identifiers.org/kegg.disease:H02276 H02276 NANDO:2201244 H02276 http://www.geneontology.org/formats/oboInOwl#hasDbXref 成人型神経セロイドリポフスチン症 Adult-onset neuronal ceroid lipofuscinosis https://identifiers.org/kegg.disease:H02276 H02276 NANDO:2201244 H02276 http://www.geneontology.org/formats/oboInOwl#hasDbXref Kufs 病 Adult-onset neuronal ceroid lipofuscinosis https://identifiers.org/kegg.disease:H02276 NANDO:2201241 http://nanbyodata.jp/ontology/NANDO_2201241 parent H02277 NANDO:2201241 H02277 http://www.geneontology.org/formats/oboInOwl#hasDbXref 乳児型神経セロイドリポフスチン症 Infantile neuronal ceroid lipofuscinosis https://identifiers.org/kegg.disease:H02277 H02277 NANDO:2201241 H02277 http://www.geneontology.org/formats/oboInOwl#hasDbXref Santavuori-Haltia 病 Infantile neuronal ceroid lipofuscinosis https://identifiers.org/kegg.disease:H02277 H02277 NANDO:2201241 H02277 http://www.geneontology.org/formats/oboInOwl#hasDbXref 乳児型神経セロイドリポフスチン症 Santavuori-Haltia disease https://identifiers.org/kegg.disease:H02277 H02277 NANDO:2201241 H02277 http://www.geneontology.org/formats/oboInOwl#hasDbXref Santavuori-Haltia 病 Santavuori-Haltia disease https://identifiers.org/kegg.disease:H02277 NANDO:2201067 http://nanbyodata.jp/ontology/NANDO_2201067 parent H02555 NANDO:2201067 H02555 http://www.geneontology.org/formats/oboInOwl#hasDbXref マックル-ウェルズ症候群 Muckle-Wells syndrome https://identifiers.org/kegg.disease:H02555 NANDO:2201364 http://nanbyodata.jp/ontology/NANDO_2201364 parent H02631 NANDO:2201364 H02631 http://www.geneontology.org/formats/oboInOwl#hasDbXref メロレオストーシス Melorheostosis https://identifiers.org/kegg.disease:H02631 H02631 NANDO:2201364 H02631 http://www.geneontology.org/formats/oboInOwl#hasDbXref 流蝋骨症 Melorheostosis https://identifiers.org/kegg.disease:H02631 NANDO:2201435 http://nanbyodata.jp/ontology/NANDO_2201435 parent H00512 NANDO:2201435 H00512 http://www.geneontology.org/formats/oboInOwl#hasDbXref 新生児永続型糖尿病 Permanent neonatal diabetes mellitus https://identifiers.org/kegg.disease:H00512 NANDO:2201434 http://nanbyodata.jp/ontology/NANDO_2201434 parent H00513 NANDO:2201434 H00513 http://www.geneontology.org/formats/oboInOwl#hasDbXref 新生児一過性糖尿病 Transient neonatal diabetes mellitus https://identifiers.org/kegg.disease:H00513 NANDO:2201419 http://nanbyodata.jp/ontology/NANDO_2201419 parent H00756 NANDO:2201419 H00756 http://www.geneontology.org/formats/oboInOwl#hasDbXref Pitt-Hopkins 症候群 Pitt-Hopkins syndrome https://identifiers.org/kegg.disease:H00756 NANDO:2201418 http://nanbyodata.jp/ontology/NANDO_2201418 parent H00940 NANDO:2201418 H00940 http://www.geneontology.org/formats/oboInOwl#hasDbXref Cohen 症候群 Cohen syndrome https://identifiers.org/kegg.disease:H00940 NANDO:2201470 http://nanbyodata.jp/ontology/NANDO_2201470 parent H00982 NANDO:2201470 H00982 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性鉄芽球性貧血 Sideroblastic anemia https://identifiers.org/kegg.disease:H00982 NANDO:2201439 http://nanbyodata.jp/ontology/NANDO_2201439 parent H01361 NANDO:2201439 H01361 http://www.geneontology.org/formats/oboInOwl#hasDbXref 好酸球性食道炎 Eosinophilic esophagitis https://identifiers.org/kegg.disease:H01361 NANDO:2201475 http://nanbyodata.jp/ontology/NANDO_2201475 parent H01433 NANDO:2201475 H01433 http://www.geneontology.org/formats/oboInOwl#hasDbXref バット・キアリ症候群 Budd-Chiari syndrome https://identifiers.org/kegg.disease:H01433 NANDO:2201445 http://nanbyodata.jp/ontology/NANDO_2201445 parent H01474 NANDO:2201445 H01474 http://www.geneontology.org/formats/oboInOwl#hasDbXref Lawrence 症候群 Acquired generalized lipodystrophy https://identifiers.org/kegg.disease:H01474 H01474 NANDO:2201445 H01474 http://www.geneontology.org/formats/oboInOwl#hasDbXref Lawrence 症候群 Lawrence syndrome https://identifiers.org/kegg.disease:H01474 H01474 NANDO:2201445 H01474 http://www.geneontology.org/formats/oboInOwl#hasDbXref 後天性全身性脂肪萎縮症 Lawrence syndrome https://identifiers.org/kegg.disease:H01474 H01474 NANDO:2201445 H01474 http://www.geneontology.org/formats/oboInOwl#hasDbXref 後天性全身性脂肪萎縮症 Acquired generalized lipodystrophy https://identifiers.org/kegg.disease:H01474 NANDO:2201420 http://nanbyodata.jp/ontology/NANDO_2201420 parent H01493 NANDO:2201420 H01493 http://www.geneontology.org/formats/oboInOwl#hasDbXref 限局性強皮症 Morphea https://identifiers.org/kegg.disease:H01493 H01493 NANDO:2201420 H01493 http://www.geneontology.org/formats/oboInOwl#hasDbXref 限局性強皮症 Localized Scleroderma https://identifiers.org/kegg.disease:H01493 H01493 NANDO:2201420 H01493 http://www.geneontology.org/formats/oboInOwl#hasDbXref モルフィア Morphea https://identifiers.org/kegg.disease:H01493 H01493 NANDO:2201420 H01493 http://www.geneontology.org/formats/oboInOwl#hasDbXref モルフィア Localized Scleroderma https://identifiers.org/kegg.disease:H01493 NANDO:2201429 http://nanbyodata.jp/ontology/NANDO_2201429 parent H01514 NANDO:2201429 H01514 http://www.geneontology.org/formats/oboInOwl#hasDbXref ランドウ・クレフナー症候群 Landau-Kleffner syndrome https://identifiers.org/kegg.disease:H01514 NANDO:2201474 http://nanbyodata.jp/ontology/NANDO_2201474 parent H01686 NANDO:2201474 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref バンチ症候群 Banti syndrome https://identifiers.org/kegg.disease:H01686 H01686 NANDO:2201474 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性門脈圧亢進症 Non-cirrhotic portal fibrosis https://identifiers.org/kegg.disease:H01686 H01686 NANDO:2201474 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref バンチ症候群 Idiopathic portal hypertension https://identifiers.org/kegg.disease:H01686 H01686 NANDO:2201474 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非硬変症性門脈線維症 Banti syndrome https://identifiers.org/kegg.disease:H01686 H01686 NANDO:2201474 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非硬変症性門脈線維症 Idiopathic portal hypertension https://identifiers.org/kegg.disease:H01686 H01686 NANDO:2201474 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref バンチ症候群 Non-cirrhotic portal fibrosis https://identifiers.org/kegg.disease:H01686 H01686 NANDO:2201474 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性門脈圧亢進症 Idiopathic portal hypertension https://identifiers.org/kegg.disease:H01686 H01686 NANDO:2201474 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性門脈圧亢進症 Banti syndrome https://identifiers.org/kegg.disease:H01686 H01686 NANDO:2201474 H01686 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非硬変症性門脈線維症 Non-cirrhotic portal fibrosis https://identifiers.org/kegg.disease:H01686 NANDO:2201473 http://nanbyodata.jp/ontology/NANDO_2201473 parent H01687 NANDO:2201473 H01687 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝外門脈閉塞症 Extrahepatic portal venous obstruction https://identifiers.org/kegg.disease:H01687 H01687 NANDO:2201473 H01687 http://www.geneontology.org/formats/oboInOwl#hasDbXref 肝外門脈閉塞症 Extrahepatic portal vein obstruction https://identifiers.org/kegg.disease:H01687 NANDO:2201426 http://nanbyodata.jp/ontology/NANDO_2201426 parent H01750 NANDO:2201426 H01750 http://www.geneontology.org/formats/oboInOwl#hasDbXref タナトフォリック骨異形成症 Thanatophoric dysplasia https://identifiers.org/kegg.disease:H01750 NANDO:2100307 http://nanbyodata.jp/ontology/NANDO_2100307 parent H00215 NANDO:2100307 H00215 http://www.geneontology.org/formats/oboInOwl#hasDbXref 遺伝性周期性四肢麻痺 Periodic paralysis https://identifiers.org/kegg.disease:H00215 NANDO:2201526 http://nanbyodata.jp/ontology/NANDO_2201526 parent H00610 NANDO:2201526 H00610 http://www.geneontology.org/formats/oboInOwl#hasDbXref トレチャーコリンズ症候群 Treacher Collins syndrome https://identifiers.org/kegg.disease:H00610 NANDO:1201116 http://nanbyodata.jp/ontology/NANDO_1201116 parent H00692 NANDO:1201116 H00692 http://www.geneontology.org/formats/oboInOwl#hasDbXref ロウ症候群 Lowe syndrome https://identifiers.org/kegg.disease:H00692 H00692 NANDO:1201116 H00692 http://www.geneontology.org/formats/oboInOwl#hasDbXref ロウ症候群 Oculocerebrorenal Dystrophy (OCRL) https://identifiers.org/kegg.disease:H00692 NANDO:2201509 http://nanbyodata.jp/ontology/NANDO_2201509 parent H00705 NANDO:2201509 H00705 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性ミオトニー Myotonia congenita https://identifiers.org/kegg.disease:H00705 NANDO:2201512 http://nanbyodata.jp/ontology/NANDO_2201512 parent H00743 NANDO:2201512 H00743 http://www.geneontology.org/formats/oboInOwl#hasDbXref 先天性パラミオトニー Paramyotonia congenita https://identifiers.org/kegg.disease:H00743 NANDO:2201513 http://nanbyodata.jp/ontology/NANDO_2201513 parent H00744 NANDO:2201513 H00744 http://www.geneontology.org/formats/oboInOwl#hasDbXref ナトリウムチャネルミオトニー Potassium-aggravated myotonia https://identifiers.org/kegg.disease:H00744 H00744 NANDO:2201513 H00744 http://www.geneontology.org/formats/oboInOwl#hasDbXref ナトリウムチャネルミオトニー Sodium channel myotonia https://identifiers.org/kegg.disease:H00744 H00744 NANDO:2201513 H00744 http://www.geneontology.org/formats/oboInOwl#hasDbXref カリウム惹起性ミオトニー Potassium-aggravated myotonia https://identifiers.org/kegg.disease:H00744 H00744 NANDO:2201513 H00744 http://www.geneontology.org/formats/oboInOwl#hasDbXref カリウム惹起性ミオトニー Sodium channel myotonia https://identifiers.org/kegg.disease:H00744 NANDO:2201516 http://nanbyodata.jp/ontology/NANDO_2201516 parent H00748 NANDO:2201516 H00748 http://www.geneontology.org/formats/oboInOwl#hasDbXref Andersen-Tawil 症候群 Andersen-Tawil syndrome https://identifiers.org/kegg.disease:H00748 NANDO:1201117 http://nanbyodata.jp/ontology/NANDO_1201117 parent H00748 NANDO:1201117 H00748 http://www.geneontology.org/formats/oboInOwl#hasDbXref Andersen-Tawil 症候群 Andersen-Tawil syndrome https://identifiers.org/kegg.disease:H00748 NANDO:2100305 http://nanbyodata.jp/ontology/NANDO_2100305 parent H01675 NANDO:2100305 H01675 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脊髄空洞症 Syringomyelia https://identifiers.org/kegg.disease:H01675 NANDO:2201488 http://nanbyodata.jp/ontology/NANDO_2201488 parent H01675 NANDO:2201488 H01675 http://www.geneontology.org/formats/oboInOwl#hasDbXref 脊髄空洞症 Syringomyelia https://identifiers.org/kegg.disease:H01675 NANDO:2201527 http://nanbyodata.jp/ontology/NANDO_2201527 parent H01734 NANDO:2201527 H01734 http://www.geneontology.org/formats/oboInOwl#hasDbXref ロスムンド・トムソン症候群 Rothmund-Thomson syndrome https://identifiers.org/kegg.disease:H01734 NANDO:2100306 http://nanbyodata.jp/ontology/NANDO_2100306 parent H01780 NANDO:2100306 H01780 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非ジストロフィー性ミオトニー症候群 Non-dystrophic myotonia https://identifiers.org/kegg.disease:H01780 NANDO:2201508 http://nanbyodata.jp/ontology/NANDO_2201508 parent H01780 NANDO:2201508 H01780 http://www.geneontology.org/formats/oboInOwl#hasDbXref 非ジストロフィー性ミオトニー症候群 Non-dystrophic myotonia https://identifiers.org/kegg.disease:H01780 NANDO:2201523 http://nanbyodata.jp/ontology/NANDO_2201523 parent H01801 NANDO:2201523 H01801 http://www.geneontology.org/formats/oboInOwl#hasDbXref 第１４番染色体父親性ダイソミー症候群 Paternal uniparental disomy 14 https://identifiers.org/kegg.disease:H01801 H01801 NANDO:2201523 H01801 http://www.geneontology.org/formats/oboInOwl#hasDbXref 第１４番染色体父親性ダイソミー症候群 Kagami-Ogata syndrome https://identifiers.org/kegg.disease:H01801 H01801 NANDO:2201523 H01801 http://www.geneontology.org/formats/oboInOwl#hasDbXref 鏡・緒方症候群 Kagami-Ogata syndrome https://identifiers.org/kegg.disease:H01801 H01801 NANDO:2201523 H01801 http://www.geneontology.org/formats/oboInOwl#hasDbXref 鏡・緒方症候群 Paternal uniparental disomy 14 https://identifiers.org/kegg.disease:H01801 NANDO:2100309 http://nanbyodata.jp/ontology/NANDO_2100309 parent H01848 NANDO:2100309 H01848 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性後天性全身性無汗症 Acquired idiopathic generalized anhidrosis https://identifiers.org/kegg.disease:H01848 NANDO:2201532 http://nanbyodata.jp/ontology/NANDO_2201532 parent H01848 NANDO:2201532 H01848 http://www.geneontology.org/formats/oboInOwl#hasDbXref 特発性後天性全身性無汗症 Acquired idiopathic generalized anhidrosis https://identifiers.org/kegg.disease:H01848 NANDO:2201525 http://nanbyodata.jp/ontology/NANDO_2201525 parent H02325 NANDO:2201525 H02325 http://www.geneontology.org/formats/oboInOwl#hasDbXref Schaaf-Yang 症候群 Schaaf-Yang syndrome https://identifiers.org/kegg.disease:H02325 NANDO:1201158 http://nanbyodata.jp/ontology/NANDO_1201158 parent H00653 NANDO:1201158 H00653 http://www.geneontology.org/formats/oboInOwl#hasDbXref マルファン症候群 Marfan syndrome https://identifiers.org/kegg.disease:H00653 NANDO:1201175 http://nanbyodata.jp/ontology/NANDO_1201175 parent H01948 NANDO:1201175 H01948 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホスホリラーゼキナーゼ欠損症 Phosphorylase kinase deficiency https://identifiers.org/kegg.disease:H01948 H01948 NANDO:1201175 H01948 http://www.geneontology.org/formats/oboInOwl#hasDbXref ホスホリラーゼキナーゼ欠損症 Glycogen storage disease type IX https://identifiers.org/kegg.disease:H01948 H01948 NANDO:1201175 H01948 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 IX 型 Phosphorylase kinase deficiency https://identifiers.org/kegg.disease:H01948 H01948 NANDO:1201175 H01948 http://www.geneontology.org/formats/oboInOwl#hasDbXref 糖原病 IX 型 Glycogen storage disease type IX https://identifiers.org/kegg.disease:H01948 NANDO:1201152 http://nanbyodata.jp/ontology/NANDO_1201152 parent H02206 NANDO:1201152 H02206 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無セルロプラスミン血症 Ceruloplasmin deficiency https://identifiers.org/kegg.disease:H02206 H02206 NANDO:1201152 H02206 http://www.geneontology.org/formats/oboInOwl#hasDbXref 無セルロプラスミン血症 Aceruloplasminemia https://identifiers.org/kegg.disease:H02206 H02206 NANDO:1201152 H02206 http://www.geneontology.org/formats/oboInOwl#hasDbXref セルロプラスミン欠損症 Ceruloplasmin deficiency https://identifiers.org/kegg.disease:H02206 H02206 NANDO:1201152 H02206 http://www.geneontology.org/formats/oboInOwl#hasDbXref セルロプラスミン欠損症 Aceruloplasminemia https://identifiers.org/kegg.disease:H02206 NANDO:1201154 http://nanbyodata.jp/ontology/NANDO_1201154 parent H00682 NANDO:1201154 H00682 http://www.geneontology.org/formats/oboInOwl#hasDbXref Woodhouse-Sakati 症候群 Woodhouse-Sakati syndrome https://identifiers.org/kegg.disease:H00682 H00682 NANDO:1201154 H00682 http://www.geneontology.org/formats/oboInOwl#hasDbXref Woodhouse-Sakati 症候群 Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome https://identifiers.org/kegg.disease:H00682 NANDO:1201153 http://nanbyodata.jp/ontology/NANDO_1201153 parent H02207 NANDO:1201153 H02207 http://www.geneontology.org/formats/oboInOwl#hasDbXref パーキンソン病 9 型 Kufor-Rakeb syndrome https://identifiers.org/kegg.disease:H02207 H02207 NANDO:1201153 H02207 http://www.geneontology.org/formats/oboInOwl#hasDbXref パーキンソン病 9 型 Parkinson disease 9 https://identifiers.org/kegg.disease:H02207 H02207 NANDO:1201153 H02207 http://www.geneontology.org/formats/oboInOwl#hasDbXref Kufor-Rakeb 症候群 Kufor-Rakeb syndrome https://identifiers.org/kegg.disease:H02207 H02207 NANDO:1201153 H02207 http://www.geneontology.org/formats/oboInOwl#hasDbXref Kufor-Rakeb 症候群 Parkinson disease 9 https://identifiers.org/kegg.disease:H02207