nando_id nando_uid mondo_id property mondo_label_ja mondo_label_en mondo_url NANDO:1200037 http://nanbyodata.jp/ontology/NANDO_1200037 MONDO:0000437 http://www.w3.org/2004/02/skos/core#exactMatch 小脳性運動失調 cerebellar ataxia https://monarchinitiative.org/MONDO:0000437 NANDO:1200055 http://nanbyodata.jp/ontology/NANDO_1200055 MONDO:0002561 http://www.w3.org/2004/02/skos/core#exactMatch ライソゾーム病 lysosomal storage disease https://monarchinitiative.org/MONDO:0002561 NANDO:1200002 http://nanbyodata.jp/ontology/NANDO_1200002 MONDO:0004976 http://www.w3.org/2004/02/skos/core#exactMatch 筋萎縮性側索硬化症 amyotrophic lateral sclerosis https://monarchinitiative.org/MONDO:0004976 NANDO:1100006 http://nanbyodata.jp/ontology/NANDO_1100006 MONDO:0005570 http://www.w3.org/2004/02/skos/core#exactMatch 血液障害 hematologic disorder https://monarchinitiative.org/MONDO:0005570 NANDO:1200030 http://nanbyodata.jp/ontology/NANDO_1200030 MONDO:0006702 http://www.w3.org/2004/02/skos/core#exactMatch 慢性炎症性脱髄性多発根ニューロパチー chronic inflammatory demyelinating polyradiculoneuropathy https://monarchinitiative.org/MONDO:0006702 NANDO:1200041 http://nanbyodata.jp/ontology/NANDO_1200041 MONDO:0007182 http://www.w3.org/2004/02/skos/core#exactMatch マカド-ジョセフ病 Machado-Joseph disease https://monarchinitiative.org/MONDO:0007182 NANDO:1200044 http://nanbyodata.jp/ontology/NANDO_1200044 MONDO:0007296 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症31型 spinocerebellar ataxia type 31 https://monarchinitiative.org/MONDO:0007296 NANDO:1200043 http://nanbyodata.jp/ontology/NANDO_1200043 MONDO:0007435 http://www.w3.org/2004/02/skos/core#exactMatch 歯状核赤核淡蒼球ルイ体萎縮症 dentatorubral-pallidoluysian atrophy https://monarchinitiative.org/MONDO:0007435 NANDO:1200030 http://nanbyodata.jp/ontology/NANDO_1200030 MONDO:0007691 http://www.w3.org/2004/02/skos/core#closeMatch ギラン・バレー症候群, 家族性 Guillain-Barre syndrome, familial https://monarchinitiative.org/MONDO:0007691 NANDO:1200012 http://nanbyodata.jp/ontology/NANDO_1200012 MONDO:0007739 http://www.w3.org/2004/02/skos/core#exactMatch ハンチントン病 Huntington disease https://monarchinitiative.org/MONDO:0007739 NANDO:1200034 http://nanbyodata.jp/ontology/NANDO_1200034 MONDO:0007803 http://www.w3.org/2004/02/skos/core#exactMatch 多系統萎縮症 multiple system atrophy https://monarchinitiative.org/MONDO:0007803 NANDO:1200032 http://nanbyodata.jp/ontology/NANDO_1200032 MONDO:0007827 http://www.w3.org/2004/02/skos/core#exactMatch 封入体筋炎 inclusion body myositis https://monarchinitiative.org/MONDO:0007827 NANDO:1200045 http://nanbyodata.jp/ontology/NANDO_1200045 MONDO:0008119 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症1型 spinocerebellar ataxia type 1 https://monarchinitiative.org/MONDO:0008119 NANDO:1200042 http://nanbyodata.jp/ontology/NANDO_1200042 MONDO:0008457 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症6型 spinocerebellar ataxia type 6 https://monarchinitiative.org/MONDO:0008457 NANDO:1200046 http://nanbyodata.jp/ontology/NANDO_1200046 MONDO:0008458 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症2型 spinocerebellar ataxia type 2 https://monarchinitiative.org/MONDO:0008458 NANDO:1200014 http://nanbyodata.jp/ontology/NANDO_1200014 MONDO:0008695 http://www.w3.org/2004/02/skos/core#exactMatch 舞踏病-有棘赤血球症 chorea-acanthocytosis https://monarchinitiative.org/MONDO:0008695 NANDO:1200051 http://nanbyodata.jp/ontology/NANDO_1200051 MONDO:0008842 http://www.w3.org/2004/02/skos/core#exactMatch 運動失調, 早期発症, 眼球運動失行および低アルブミン血症を伴う ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia https://monarchinitiative.org/MONDO:0008842 NANDO:1200067 http://nanbyodata.jp/ontology/NANDO_1200067 MONDO:0009260 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス1型 GM1 gangliosidosis type 1 https://monarchinitiative.org/MONDO:0009260 NANDO:1200068 http://nanbyodata.jp/ontology/NANDO_1200068 MONDO:0009261 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス2型 GM1 gangliosidosis type 2 https://monarchinitiative.org/MONDO:0009261 NANDO:1200069 http://nanbyodata.jp/ontology/NANDO_1200069 MONDO:0009262 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス3型 GM1 gangliosidosis type 3 https://monarchinitiative.org/MONDO:0009262 NANDO:1200057 http://nanbyodata.jp/ontology/NANDO_1200057 MONDO:0009265 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病I型 Gaucher disease type I https://monarchinitiative.org/MONDO:0009265 NANDO:1200058 http://nanbyodata.jp/ontology/NANDO_1200058 MONDO:0009266 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病II型 Gaucher disease type II https://monarchinitiative.org/MONDO:0009266 NANDO:1200059 http://nanbyodata.jp/ontology/NANDO_1200059 MONDO:0009267 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病III型 Gaucher disease type III https://monarchinitiative.org/MONDO:0009267 NANDO:1200074 http://nanbyodata.jp/ontology/NANDO_1200074 MONDO:0009499 http://www.w3.org/2004/02/skos/core#exactMatch クラッベ病 Krabbe disease https://monarchinitiative.org/MONDO:0009499 NANDO:1200080 http://nanbyodata.jp/ontology/NANDO_1200080 MONDO:0009591 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 若年型 metachromatic leukodystrophy, juvenile form https://monarchinitiative.org/MONDO:0009591 NANDO:1200004 http://nanbyodata.jp/ontology/NANDO_1200004 MONDO:0009669 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症1型 spinal muscular atrophy, type 1 https://monarchinitiative.org/MONDO:0009669 NANDO:1200006 http://nanbyodata.jp/ontology/NANDO_1200006 MONDO:0009672 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症III型 spinal muscular atrophy, type III https://monarchinitiative.org/MONDO:0009672 NANDO:1200005 http://nanbyodata.jp/ontology/NANDO_1200005 MONDO:0009673 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症II型 spinal muscular atrophy, type II https://monarchinitiative.org/MONDO:0009673 NANDO:1200020 http://nanbyodata.jp/ontology/NANDO_1200020 MONDO:0009688 http://www.w3.org/2004/02/skos/core#exactMatch 重症筋無力症 myasthenia gravis https://monarchinitiative.org/MONDO:0009688 NANDO:1200061 http://nanbyodata.jp/ontology/NANDO_1200061 MONDO:0009756 http://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病A型 Niemann-Pick disease type A https://monarchinitiative.org/MONDO:0009756 NANDO:1200072 http://nanbyodata.jp/ontology/NANDO_1200072 MONDO:0010006 http://www.w3.org/2004/02/skos/core#exactMatch サンドホフ病 Sandhoff disease https://monarchinitiative.org/MONDO:0010006 NANDO:1200007 http://nanbyodata.jp/ontology/NANDO_1200007 MONDO:0010056 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症IV型 spinal muscular atrophy, type IV https://monarchinitiative.org/MONDO:0010056 NANDO:1200073 http://nanbyodata.jp/ontology/NANDO_1200073 MONDO:0010099 http://www.w3.org/2004/02/skos/core#exactMatch テイ・サックス病AB変異体 Tay-Sachs disease AB variant https://monarchinitiative.org/MONDO:0010099 NANDO:1200071 http://nanbyodata.jp/ontology/NANDO_1200071 MONDO:0010100 http://www.w3.org/2004/02/skos/core#exactMatch テイ・サックス病 Tay-Sachs disease https://monarchinitiative.org/MONDO:0010100 NANDO:1200050 http://nanbyodata.jp/ontology/NANDO_1200050 MONDO:0010188 http://www.w3.org/2004/02/skos/core#exactMatch 家族性ビタミンE単独欠損症 familial isolated deficiency of vitamin E https://monarchinitiative.org/MONDO:0010188 NANDO:1200001 http://nanbyodata.jp/ontology/NANDO_1200001 MONDO:0010735 http://www.w3.org/2004/02/skos/core#exactMatch ケネディ病 Kennedy disease https://monarchinitiative.org/MONDO:0010735 NANDO:1200062 http://nanbyodata.jp/ontology/NANDO_1200062 MONDO:0011871 http://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病B型 Niemann-Pick disease type B https://monarchinitiative.org/MONDO:0011871 NANDO:1200048 http://nanbyodata.jp/ontology/NANDO_1200048 MONDO:0013594 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症36型 spinocerebellar ataxia type 36 https://monarchinitiative.org/MONDO:0013594 NANDO:1200053 http://nanbyodata.jp/ontology/NANDO_1200053 MONDO:0015149 http://www.w3.org/2004/02/skos/core#exactMatch 純粋型遺伝性痙性対麻痺 pure hereditary spastic paraplegia https://monarchinitiative.org/MONDO:0015149 NANDO:1200054 http://nanbyodata.jp/ontology/NANDO_1200054 MONDO:0015150 http://www.w3.org/2004/02/skos/core#exactMatch 複合型遺伝性痙性対麻痺 complex hereditary spastic paraplegia https://monarchinitiative.org/MONDO:0015150 NANDO:1200016 http://nanbyodata.jp/ontology/NANDO_1200016 MONDO:0015626 http://www.w3.org/2004/02/skos/core#exactMatch シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease https://monarchinitiative.org/MONDO:0015626 NANDO:1200075 http://nanbyodata.jp/ontology/NANDO_1200075 MONDO:0016089 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型クラッベ病 infantile Krabbe disease https://monarchinitiative.org/MONDO:0016089 NANDO:1200077 http://nanbyodata.jp/ontology/NANDO_1200077 MONDO:0016091 http://www.w3.org/2004/02/skos/core#exactMatch 成人型クラッベ病 adult Krabbe disease https://monarchinitiative.org/MONDO:0016091 NANDO:1200001 http://nanbyodata.jp/ontology/NANDO_1200001 MONDO:0016113 http://www.w3.org/2004/02/skos/core#closeMatch 球脊髄性筋萎縮症 bulbospinal muscular atrophy https://monarchinitiative.org/MONDO:0016113 NANDO:1200065 http://nanbyodata.jp/ontology/NANDO_1200065 MONDO:0016310 http://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病C型, 成人期神経発症 Niemann-Pick disease type C, adult neurologic onset https://monarchinitiative.org/MONDO:0016310 NANDO:1200035 http://nanbyodata.jp/ontology/NANDO_1200035 MONDO:0016418 http://www.w3.org/2004/02/skos/core#exactMatch MSA-C multiple system atrophy, cerebellar type https://monarchinitiative.org/MONDO:0016418 NANDO:1200028 http://nanbyodata.jp/ontology/NANDO_1200028 MONDO:0016430 http://www.w3.org/2004/02/skos/core#exactMatch Baló病 Balo concentric sclerosis https://monarchinitiative.org/MONDO:0016430 NANDO:1200013 http://nanbyodata.jp/ontology/NANDO_1200013 MONDO:0016987 http://www.w3.org/2004/02/skos/core#exactMatch 神経有棘赤血球症 neuroacanthocytosis https://monarchinitiative.org/MONDO:0016987 NANDO:1200033 http://nanbyodata.jp/ontology/NANDO_1200033 MONDO:0017364 http://www.w3.org/2004/02/skos/core#exactMatch クロウ・深瀬症候群 POEMS syndrome https://monarchinitiative.org/MONDO:0017364 NANDO:1200070 http://nanbyodata.jp/ontology/NANDO_1200070 MONDO:0017720 http://www.w3.org/2004/02/skos/core#exactMatch GM2ガングリオシドーシス GM2 gangliosidosis https://monarchinitiative.org/MONDO:0017720 NANDO:1200079 http://nanbyodata.jp/ontology/NANDO_1200079 MONDO:0017729 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 乳幼児型 metachromatic leukodystrophy, late infantile form https://monarchinitiative.org/MONDO:0017729 NANDO:1200081 http://nanbyodata.jp/ontology/NANDO_1200081 MONDO:0017730 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 成人型 metachromatic leukodystrophy, adult form https://monarchinitiative.org/MONDO:0017730 NANDO:1200066 http://nanbyodata.jp/ontology/NANDO_1200066 MONDO:0018149 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス GM1 gangliosidosis https://monarchinitiative.org/MONDO:0018149 NANDO:1200056 http://nanbyodata.jp/ontology/NANDO_1200056 MONDO:0018150 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病 Gaucher disease https://monarchinitiative.org/MONDO:0018150 NANDO:1200008 http://nanbyodata.jp/ontology/NANDO_1200008 MONDO:0018155 http://www.w3.org/2004/02/skos/core#exactMatch 原発性側索硬化症 lateral sclerosis https://monarchinitiative.org/MONDO:0018155 NANDO:1200019 http://nanbyodata.jp/ontology/NANDO_1200019 MONDO:0018778 http://www.w3.org/2004/02/skos/core#exactMatch 中間型シャルコー・マリー・トゥース病 intermediate Charcot-Marie-Tooth disease https://monarchinitiative.org/MONDO:0018778 NANDO:1200078 http://nanbyodata.jp/ontology/NANDO_1200078 MONDO:0018868 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー metachromatic leukodystrophy https://monarchinitiative.org/MONDO:0018868 NANDO:1200021 http://nanbyodata.jp/ontology/NANDO_1200021 MONDO:0018940 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋無力症候群 congenital myasthenic syndrome https://monarchinitiative.org/MONDO:0018940 NANDO:1200015 http://nanbyodata.jp/ontology/NANDO_1200015 MONDO:0018945 http://www.w3.org/2004/02/skos/core#exactMatch Mcleod症候群 McLeod neuroacanthocytosis syndrome https://monarchinitiative.org/MONDO:0018945 NANDO:1200031 http://nanbyodata.jp/ontology/NANDO_1200031 MONDO:0018979 http://www.w3.org/2004/02/skos/core#exactMatch 多巣性運動ニューロパチー multifocal motor neuropathy https://monarchinitiative.org/MONDO:0018979 NANDO:1200063 http://nanbyodata.jp/ontology/NANDO_1200063 MONDO:0018982 http://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病C型 Niemann-Pick disease type C https://monarchinitiative.org/MONDO:0018982 NANDO:1200018 http://nanbyodata.jp/ontology/NANDO_1200018 MONDO:0018993 http://www.w3.org/2004/02/skos/core#exactMatch シャルコー・マリー・トゥース病2型 Charcot-Marie-Tooth disease type 2 https://monarchinitiative.org/MONDO:0018993 NANDO:1200017 http://nanbyodata.jp/ontology/NANDO_1200017 MONDO:0019011 http://www.w3.org/2004/02/skos/core#exactMatch シャルコー・マリー・トゥース病1型 Charcot-Marie-Tooth disease type 1 https://monarchinitiative.org/MONDO:0019011 NANDO:1200009 http://nanbyodata.jp/ontology/NANDO_1200009 MONDO:0019037 http://www.w3.org/2004/02/skos/core#exactMatch 進行性核上性麻痺 progressive supranuclear palsy https://monarchinitiative.org/MONDO:0019037 NANDO:1100014 http://nanbyodata.jp/ontology/NANDO_1100014 MONDO:0019040 http://www.w3.org/2004/02/skos/core#exactMatch 染色体または遺伝子に変化を伴う症候群 chromosomal disorder https://monarchinitiative.org/MONDO:0019040 NANDO:1100001 http://nanbyodata.jp/ontology/NANDO_1100001 MONDO:0019056 http://www.w3.org/2004/02/skos/core#exactMatch 神経・筋疾患 neuromuscular disease https://monarchinitiative.org/MONDO:0019056 NANDO:1200052 http://nanbyodata.jp/ontology/NANDO_1200052 MONDO:0019064 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性痙性対麻痺 hereditary spastic paraplegia https://monarchinitiative.org/MONDO:0019064 NANDO:1200027 http://nanbyodata.jp/ontology/NANDO_1200027 MONDO:0019100 http://www.w3.org/2004/02/skos/core#exactMatch 視神経脊髄炎 neuromyelitis optica https://monarchinitiative.org/MONDO:0019100 NANDO:1200036 http://nanbyodata.jp/ontology/NANDO_1200036 MONDO:0020352 http://www.w3.org/2004/02/skos/core#exactMatch MSA-P multiple system atrophy, parkinsonian type https://monarchinitiative.org/MONDO:0020352 NANDO:1200026 http://nanbyodata.jp/ontology/NANDO_1200026 MONDO:0000450 http://www.w3.org/2004/02/skos/core#exactMatch "" secondary progressive multiple sclerosis https://monarchinitiative.org/MONDO:0000450 NANDO:1200025 http://nanbyodata.jp/ontology/NANDO_1200025 MONDO:0000451 http://www.w3.org/2004/02/skos/core#exactMatch "" primary progressive multiple sclerosis https://monarchinitiative.org/MONDO:0000451 NANDO:1200003 http://nanbyodata.jp/ontology/NANDO_1200003 MONDO:0001516 http://www.w3.org/2004/02/skos/core#exactMatch "" spinal muscular atrophy https://monarchinitiative.org/MONDO:0001516 NANDO:1100013 http://nanbyodata.jp/ontology/NANDO_1100013 MONDO:0004335 http://www.w3.org/2004/02/skos/core#exactMatch "" digestive system disorder https://monarchinitiative.org/MONDO:0004335 NANDO:1100005 http://nanbyodata.jp/ontology/NANDO_1100005 MONDO:0004995 http://www.w3.org/2004/02/skos/core#exactMatch "" cardiovascular disorder https://monarchinitiative.org/MONDO:0004995 NANDO:1100004 http://nanbyodata.jp/ontology/NANDO_1100004 MONDO:0005046 http://www.w3.org/2004/02/skos/core#exactMatch "" immune system disorder https://monarchinitiative.org/MONDO:0005046 NANDO:1100002 http://nanbyodata.jp/ontology/NANDO_1100002 MONDO:0005066 http://www.w3.org/2004/02/skos/core#exactMatch "" metabolic disease https://monarchinitiative.org/MONDO:0005066 NANDO:1100010 http://nanbyodata.jp/ontology/NANDO_1100010 MONDO:0005087 http://www.w3.org/2004/02/skos/core#exactMatch "" respiratory system disorder https://monarchinitiative.org/MONDO:0005087 NANDO:1100009 http://nanbyodata.jp/ontology/NANDO_1100009 MONDO:0005151 http://www.w3.org/2004/02/skos/core#exactMatch "" endocrine system disorder https://monarchinitiative.org/MONDO:0005151 NANDO:1200010 http://nanbyodata.jp/ontology/NANDO_1200010 MONDO:0005180 http://www.w3.org/2004/02/skos/core#exactMatch "" Parkinson disease https://monarchinitiative.org/MONDO:0005180 NANDO:1200023 http://nanbyodata.jp/ontology/NANDO_1200023 MONDO:0005301 http://www.w3.org/2004/02/skos/core#exactMatch "" multiple sclerosis https://monarchinitiative.org/MONDO:0005301 NANDO:1200024 http://nanbyodata.jp/ontology/NANDO_1200024 MONDO:0005314 http://www.w3.org/2004/02/skos/core#exactMatch "" relapsing-remitting multiple sclerosis https://monarchinitiative.org/MONDO:0005314 NANDO:1200011 http://nanbyodata.jp/ontology/NANDO_1200011 MONDO:0022308 http://www.w3.org/2004/02/skos/core#exactMatch "" corticobasal degeneration disorder https://monarchinitiative.org/MONDO:0022308 NANDO:1200173 http://nanbyodata.jp/ontology/NANDO_1200173 MONDO:0004069 http://www.w3.org/2004/02/skos/core#closeMatch 先天性ミトコンドリア代謝障害 inborn mitochondrial metabolism disorder https://monarchinitiative.org/MONDO:0004069 NANDO:1200174 http://nanbyodata.jp/ontology/NANDO_1200174 MONDO:0005181 http://www.w3.org/2004/02/skos/core#exactMatch 進行性外眼筋麻痺 progressive external ophthalmoplegia https://monarchinitiative.org/MONDO:0005181 NANDO:1200153 http://nanbyodata.jp/ontology/NANDO_1200153 MONDO:0008769 http://www.w3.org/2004/02/skos/core#closeMatch 神経性セロイドリポフスチン沈着症2 neuronal ceroid lipofuscinosis 2 https://monarchinitiative.org/MONDO:0008769 NANDO:1200133 http://nanbyodata.jp/ontology/NANDO_1200133 MONDO:0008830 http://www.w3.org/2004/02/skos/core#exactMatch アスパルチルグルコサミン尿症 aspartylglucosaminuria https://monarchinitiative.org/MONDO:0008830 NANDO:1200164 http://nanbyodata.jp/ontology/NANDO_1200164 MONDO:0009064 http://www.w3.org/2004/02/skos/core#exactMatch 眼型シスチン症 ocular cystinosis https://monarchinitiative.org/MONDO:0009064 NANDO:1200163 http://nanbyodata.jp/ontology/NANDO_1200163 MONDO:0009066 http://www.w3.org/2004/02/skos/core#exactMatch 中間型シスチン症 juvenile nephropathic cystinosis https://monarchinitiative.org/MONDO:0009066 NANDO:1200086 http://nanbyodata.jp/ontology/NANDO_1200086 MONDO:0009218 http://www.w3.org/2004/02/skos/core#exactMatch ファーバー脂肪肉芽腫症 Farber lipogranulomatosis https://monarchinitiative.org/MONDO:0009218 NANDO:1200130 http://nanbyodata.jp/ontology/NANDO_1200130 MONDO:0009254 http://www.w3.org/2004/02/skos/core#exactMatch フコシドーシス fucosidosis https://monarchinitiative.org/MONDO:0009254 NANDO:1200138 http://nanbyodata.jp/ontology/NANDO_1200138 MONDO:0009290 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病II glycogen storage disease II https://monarchinitiative.org/MONDO:0009290 NANDO:1200126 http://nanbyodata.jp/ontology/NANDO_1200126 MONDO:0009561 http://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス alpha-mannosidosis https://monarchinitiative.org/MONDO:0009561 NANDO:1200129 http://nanbyodata.jp/ontology/NANDO_1200129 MONDO:0009562 http://www.w3.org/2004/02/skos/core#exactMatch β-マンノシドーシス beta-mannosidosis https://monarchinitiative.org/MONDO:0009562 NANDO:1200082 http://nanbyodata.jp/ontology/NANDO_1200082 MONDO:0009590 http://www.w3.org/2004/02/skos/core#exactMatch サポシンB欠損性異染性白質ジストロフィー metachromatic leukodystrophy due to saposin B deficiency https://monarchinitiative.org/MONDO:0009590 NANDO:1200124 http://nanbyodata.jp/ontology/NANDO_1200124 MONDO:0009650 http://www.w3.org/2004/02/skos/core#exactMatch ムコリピドーシスII型 mucolipidosis type II https://monarchinitiative.org/MONDO:0009650 NANDO:1200101 http://nanbyodata.jp/ontology/NANDO_1200101 MONDO:0009655 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3A型 mucopolysaccharidosis type 3A https://monarchinitiative.org/MONDO:0009655 NANDO:1200102 http://nanbyodata.jp/ontology/NANDO_1200102 MONDO:0009656 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 10型 mucopolysaccharidosis type 3B https://monarchinitiative.org/MONDO:0009656 NANDO:1200103 http://nanbyodata.jp/ontology/NANDO_1200103 MONDO:0009657 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3B型 mucopolysaccharidosis type 3C https://monarchinitiative.org/MONDO:0009657 NANDO:1200104 http://nanbyodata.jp/ontology/NANDO_1200104 MONDO:0009658 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3C型 mucopolysaccharidosis type 3D https://monarchinitiative.org/MONDO:0009658 NANDO:1200106 http://nanbyodata.jp/ontology/NANDO_1200106 MONDO:0009659 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4A型 mucopolysaccharidosis type 4A https://monarchinitiative.org/MONDO:0009659 NANDO:1200107 http://nanbyodata.jp/ontology/NANDO_1200107 MONDO:0009660 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4B型 mucopolysaccharidosis type 4B https://monarchinitiative.org/MONDO:0009660 NANDO:1200109 http://nanbyodata.jp/ontology/NANDO_1200109 MONDO:0009661 http://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症6型 mucopolysaccharidosis type 6 https://monarchinitiative.org/MONDO:0009661 NANDO:1200110 http://nanbyodata.jp/ontology/NANDO_1200110 MONDO:0009661 http://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症6型 mucopolysaccharidosis type 6 https://monarchinitiative.org/MONDO:0009661 NANDO:1200108 http://nanbyodata.jp/ontology/NANDO_1200108 MONDO:0009661 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症6型 mucopolysaccharidosis type 6 https://monarchinitiative.org/MONDO:0009661 NANDO:1200111 http://nanbyodata.jp/ontology/NANDO_1200111 MONDO:0009662 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症7型 mucopolysaccharidosis type 7 https://monarchinitiative.org/MONDO:0009662 NANDO:1200175 http://nanbyodata.jp/ontology/NANDO_1200175 MONDO:0009723 http://www.w3.org/2004/02/skos/core#exactMatch リー症候群 Leigh syndrome https://monarchinitiative.org/MONDO:0009723 NANDO:1200119 http://nanbyodata.jp/ontology/NANDO_1200119 MONDO:0009737 http://www.w3.org/2004/02/skos/core#exactMatch ガラクトシアリドーシス galactosialidosis https://monarchinitiative.org/MONDO:0009737 NANDO:1200120 http://nanbyodata.jp/ontology/NANDO_1200120 MONDO:0009738 http://www.w3.org/2004/02/skos/core#closeMatch シアリドーシス2型 sialidosis type 2 https://monarchinitiative.org/MONDO:0009738 NANDO:1200118 http://nanbyodata.jp/ontology/NANDO_1200118 MONDO:0009738 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス2型 sialidosis type 2 https://monarchinitiative.org/MONDO:0009738 NANDO:1200152 http://nanbyodata.jp/ontology/NANDO_1200152 MONDO:0009744 http://www.w3.org/2004/02/skos/core#closeMatch 神経性セロイドリポフスチン沈着症1 neuronal ceroid lipofuscinosis 1 https://monarchinitiative.org/MONDO:0009744 NANDO:1200147 http://nanbyodata.jp/ontology/NANDO_1200147 MONDO:0010027 http://www.w3.org/2004/02/skos/core#exactMatch 遊離シアル酸蓄積症, 乳児型 free sialic acid storage disease, infantile form https://monarchinitiative.org/MONDO:0010027 NANDO:1200084 http://nanbyodata.jp/ontology/NANDO_1200084 MONDO:0010088 http://www.w3.org/2004/02/skos/core#closeMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:1200085 http://nanbyodata.jp/ontology/NANDO_1200085 MONDO:0010088 http://www.w3.org/2004/02/skos/core#closeMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:1200083 http://nanbyodata.jp/ontology/NANDO_1200083 MONDO:0010088 http://www.w3.org/2004/02/skos/core#exactMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:1200166 http://nanbyodata.jp/ontology/NANDO_1200166 MONDO:0010247 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性大脳型副腎白質ジストロフィー X-linked cerebral adrenoleukodystrophy https://monarchinitiative.org/MONDO:0010247 NANDO:1200157 http://nanbyodata.jp/ontology/NANDO_1200157 MONDO:0010526 http://www.w3.org/2004/02/skos/core#exactMatch ファブリー病 Fabry disease https://monarchinitiative.org/MONDO:0010526 NANDO:1200097 http://nanbyodata.jp/ontology/NANDO_1200097 MONDO:0010674 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型 mucopolysaccharidosis type 2 https://monarchinitiative.org/MONDO:0010674 NANDO:1200176 http://nanbyodata.jp/ontology/NANDO_1200176 MONDO:0010789 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア脳筋症,乳酸アシドーシス,脳卒中様エピソード MELAS syndrome https://monarchinitiative.org/MONDO:0010789 NANDO:1200177 http://nanbyodata.jp/ontology/NANDO_1200177 MONDO:0010790 http://www.w3.org/2004/02/skos/core#exactMatch 赤色ぼろ線維・ミオクローヌスてんかん症候群 MERRF syndrome https://monarchinitiative.org/MONDO:0010790 NANDO:1200115 http://nanbyodata.jp/ontology/NANDO_1200115 MONDO:0011093 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症9型 mucopolysaccharidosis type 9 https://monarchinitiative.org/MONDO:0011093 NANDO:1200094 http://nanbyodata.jp/ontology/NANDO_1200094 MONDO:0011758 http://www.w3.org/2004/02/skos/core#exactMatch Hurler症候群 Hurler syndrome https://monarchinitiative.org/MONDO:0011758 NANDO:1200096 http://nanbyodata.jp/ontology/NANDO_1200096 MONDO:0011759 http://www.w3.org/2004/02/skos/core#exactMatch Hurler-Scheie症候群 Hurler-Scheie syndrome https://monarchinitiative.org/MONDO:0011759 NANDO:1200095 http://nanbyodata.jp/ontology/NANDO_1200095 MONDO:0011760 http://www.w3.org/2004/02/skos/core#exactMatch Scheie症候群 Scheie syndrome https://monarchinitiative.org/MONDO:0011760 NANDO:1200135 http://nanbyodata.jp/ontology/NANDO_1200135 MONDO:0012221 http://www.w3.org/2004/02/skos/core#exactMatch アルファ-N-アセチルガラクトサミニダーゼ欠損症1型 alpha-N-acetylgalactosaminidase deficiency type 1 https://monarchinitiative.org/MONDO:0012221 NANDO:1200136 http://nanbyodata.jp/ontology/NANDO_1200136 MONDO:0012222 http://www.w3.org/2004/02/skos/core#exactMatch アルファ-N-アセチルガラクトサミニダーゼ欠損症2型 alpha-N-acetylgalactosaminidase deficiency type 2 https://monarchinitiative.org/MONDO:0012222 NANDO:1200168 http://nanbyodata.jp/ontology/NANDO_1200168 MONDO:0015339 http://www.w3.org/2004/02/skos/core#exactMatch 副腎脊髄ニューロパチー adrenomyeloneuropathy https://monarchinitiative.org/MONDO:0015339 NANDO:1200153 http://nanbyodata.jp/ontology/NANDO_1200153 MONDO:0015674 http://www.w3.org/2004/02/skos/core#exactMatch 遅発乳児型神経性セロイドリポフスチン沈着症 late infantile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0015674 NANDO:1200161 http://nanbyodata.jp/ontology/NANDO_1200161 MONDO:0016239 http://www.w3.org/2004/02/skos/core#exactMatch シスチン症 cystinosis https://monarchinitiative.org/MONDO:0016239 NANDO:1200150 http://nanbyodata.jp/ontology/NANDO_1200150 MONDO:0016295 http://www.w3.org/2004/02/skos/core#exactMatch 神経性セロイドリポフスチン沈着症 neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0016295 NANDO:1200098 http://nanbyodata.jp/ontology/NANDO_1200098 MONDO:0016315 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型, 重症型 mucopolysaccharidosis type 2, severe form https://monarchinitiative.org/MONDO:0016315 NANDO:1200099 http://nanbyodata.jp/ontology/NANDO_1200099 MONDO:0016316 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型, 軽症型 mucopolysaccharidosis type 2, attenuated form https://monarchinitiative.org/MONDO:0016316 NANDO:1200139 http://nanbyodata.jp/ontology/NANDO_1200139 MONDO:0017694 http://www.w3.org/2004/02/skos/core#exactMatch 酸性マルターゼ欠損による糖原病, 乳児期発症 glycogen storage disease due to acid maltase deficiency, infantile onset https://monarchinitiative.org/MONDO:0017694 NANDO:1200127 http://nanbyodata.jp/ontology/NANDO_1200127 MONDO:0017732 http://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス型, 乳児型 alpha-mannosidosis, infantile form https://monarchinitiative.org/MONDO:0017732 NANDO:1200128 http://nanbyodata.jp/ontology/NANDO_1200128 MONDO:0017733 http://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス型, 若年成人型 alpha-mannosidosis, adult form https://monarchinitiative.org/MONDO:0017733 NANDO:1200116 http://nanbyodata.jp/ontology/NANDO_1200116 MONDO:0017734 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス sialidosis https://monarchinitiative.org/MONDO:0017734 NANDO:1200148 http://nanbyodata.jp/ontology/NANDO_1200148 MONDO:0017737 http://www.w3.org/2004/02/skos/core#exactMatch 中間型遊離シアル酸蓄積症 intermediate severe Salla disease https://monarchinitiative.org/MONDO:0017737 NANDO:1200134 http://nanbyodata.jp/ontology/NANDO_1200134 MONDO:0017779 http://www.w3.org/2004/02/skos/core#exactMatch アルファ-N-アセチルガラクトサミニダーゼ欠損症 alpha-N-acetylgalactosaminidase deficiency https://monarchinitiative.org/MONDO:0017779 NANDO:1200162 http://nanbyodata.jp/ontology/NANDO_1200162 MONDO:0018467 http://www.w3.org/2004/02/skos/core#closeMatch 腎型シスチン症 nephropathic infantile cystinosis https://monarchinitiative.org/MONDO:0018467 NANDO:1200165 http://nanbyodata.jp/ontology/NANDO_1200165 MONDO:0018544 http://www.w3.org/2004/02/skos/core#exactMatch 副腎白質ジストロフィー adrenoleukodystrophy https://monarchinitiative.org/MONDO:0018544 NANDO:1200125 http://nanbyodata.jp/ontology/NANDO_1200125 MONDO:0018931 http://www.w3.org/2004/02/skos/core#exactMatch ムコリピドーシスIII型, α/β mucolipidosis type III, alpha/beta https://monarchinitiative.org/MONDO:0018931 NANDO:1200100 http://nanbyodata.jp/ontology/NANDO_1200100 MONDO:0018937 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症3型 mucopolysaccharidosis type 3 https://monarchinitiative.org/MONDO:0018937 NANDO:1200105 http://nanbyodata.jp/ontology/NANDO_1200105 MONDO:0018938 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4型 mucopolysaccharidosis type 4 https://monarchinitiative.org/MONDO:0018938 NANDO:1200142 http://nanbyodata.jp/ontology/NANDO_1200142 MONDO:0019148 http://www.w3.org/2004/02/skos/core#closeMatch 酸性リパーゼ欠損症 Wolman disease https://monarchinitiative.org/MONDO:0019148 NANDO:1200143 http://nanbyodata.jp/ontology/NANDO_1200143 MONDO:0019148 http://www.w3.org/2004/02/skos/core#exactMatch 酸性リパーゼ欠損症 Wolman disease https://monarchinitiative.org/MONDO:0019148 NANDO:1200144 http://nanbyodata.jp/ontology/NANDO_1200144 MONDO:0019149 http://www.w3.org/2004/02/skos/core#exactMatch コレステロールエステル蓄積症 cholesteryl ester storage disease https://monarchinitiative.org/MONDO:0019149 NANDO:1200155 http://nanbyodata.jp/ontology/NANDO_1200155 MONDO:0019260 http://www.w3.org/2004/02/skos/core#exactMatch 成人型神経性セロイドリポフスチン沈着症 adult neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019260 NANDO:1200152 http://nanbyodata.jp/ontology/NANDO_1200152 MONDO:0019261 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型神経性セロイドリポフスチン沈着症 infantile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019261 NANDO:1200154 http://nanbyodata.jp/ontology/NANDO_1200154 MONDO:0019262 http://www.w3.org/2004/02/skos/core#exactMatch 若年型神経性セロイドリポフスチン沈着症 juvenile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019262 NANDO:1200137 http://nanbyodata.jp/ontology/NANDO_1200137 MONDO:0019264 http://www.w3.org/2004/02/skos/core#exactMatch アルファ-N-アセチルガラクトサミニダーゼ欠損症3型 alpha-N-acetylgalactosaminidase deficiency type 3 https://monarchinitiative.org/MONDO:0019264 NANDO:1200117 http://nanbyodata.jp/ontology/NANDO_1200117 MONDO:0019346 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス1型 sialidosis type 1 https://monarchinitiative.org/MONDO:0019346 NANDO:1200146 http://nanbyodata.jp/ontology/NANDO_1200146 MONDO:0019366 http://www.w3.org/2004/02/skos/core#exactMatch 遊離シアル酸蓄積症 free sialic acid storage disease https://monarchinitiative.org/MONDO:0019366 NANDO:1200180 http://nanbyodata.jp/ontology/NANDO_1200180 MONDO:0100133 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア複合体I欠損症 mitochondrial complex I deficiency https://monarchinitiative.org/MONDO:0100133 NANDO:1200162 http://nanbyodata.jp/ontology/NANDO_1200162 MONDO:0100151 http://www.w3.org/2004/02/skos/core#exactMatch 腎型シスチン症 nephropathic cystinosis https://monarchinitiative.org/MONDO:0100151 NANDO:1200180 http://nanbyodata.jp/ontology/NANDO_1200180 MONDO:0100224 http://www.w3.org/2004/02/skos/core#closeMatch ミトコンドリア複合体I欠損症, 核型1 mitochondrial complex I deficiency, nuclear type 1 https://monarchinitiative.org/MONDO:0100224 NANDO:1200127 http://nanbyodata.jp/ontology/NANDO_1200127 MONDO:0022424 http://www.w3.org/2004/02/skos/core#closeMatch "" alpha-mannosidosis type 1 https://monarchinitiative.org/MONDO:0022424 NANDO:1200173 http://nanbyodata.jp/ontology/NANDO_1200173 MONDO:0044970 http://www.w3.org/2004/02/skos/core#exactMatch "" mitochondrial disease https://monarchinitiative.org/MONDO:0044970 NANDO:1200215 http://nanbyodata.jp/ontology/NANDO_1200215 MONDO:0000355 http://www.w3.org/2004/02/skos/core#exactMatch ウルリッヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy https://monarchinitiative.org/MONDO:0000355 NANDO:1200194 http://nanbyodata.jp/ontology/NANDO_1200194 MONDO:0007012 http://www.w3.org/2004/02/skos/core#exactMatch 変異型クロイツフェルトヤコブ病 variant Creutzfeldt-Jakob disease https://monarchinitiative.org/MONDO:0007012 NANDO:1200227 http://nanbyodata.jp/ontology/NANDO_1200227 MONDO:0007039 http://www.w3.org/2004/02/skos/core#exactMatch 神経線維腫症2型 neurofibromatosis type 2 https://monarchinitiative.org/MONDO:0007039 NANDO:1200214 http://nanbyodata.jp/ontology/NANDO_1200214 MONDO:0007100 http://www.w3.org/2004/02/skos/core#closeMatch 家族性アミロイドニューロパチー familial amyloid neuropathy https://monarchinitiative.org/MONDO:0007100 NANDO:1200189 http://nanbyodata.jp/ontology/NANDO_1200189 MONDO:0007403 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性クロイツフェルト・ヤコブ病 inherited Creutzfeldt-Jakob disease https://monarchinitiative.org/MONDO:0007403 NANDO:1200190 http://nanbyodata.jp/ontology/NANDO_1200190 MONDO:0007656 http://www.w3.org/2004/02/skos/core#exactMatch ゲルストマン・シュトロイスラー・シャインカー症候群 Gerstmann-Straussler-Scheinker syndrome https://monarchinitiative.org/MONDO:0007656 NANDO:1200218 http://nanbyodata.jp/ontology/NANDO_1200218 MONDO:0007827 http://www.w3.org/2004/02/skos/core#closeMatch 封入体筋炎 inclusion body myositis https://monarchinitiative.org/MONDO:0007827 NANDO:1200272 http://nanbyodata.jp/ontology/NANDO_1200272 MONDO:0007915 http://www.w3.org/2004/02/skos/core#exactMatch 全身性エリテマトーデス systemic lupus erythematosus https://monarchinitiative.org/MONDO:0007915 NANDO:1200220 http://nanbyodata.jp/ontology/NANDO_1200220 MONDO:0008029 http://www.w3.org/2004/02/skos/core#exactMatch ベスレムミオパチー Bethlem myopathy https://monarchinitiative.org/MONDO:0008029 NANDO:1200206 http://nanbyodata.jp/ontology/NANDO_1200206 MONDO:0008039 http://www.w3.org/2004/02/skos/core#exactMatch 熱帯性痙性麻痺 tropical spastic paraparesis https://monarchinitiative.org/MONDO:0008039 NANDO:1200229 http://nanbyodata.jp/ontology/NANDO_1200229 MONDO:0008219 http://www.w3.org/2004/02/skos/core#exactMatch 尋常性天疱瘡 pemphigus vulgaris https://monarchinitiative.org/MONDO:0008219 NANDO:1200239 http://nanbyodata.jp/ontology/NANDO_1200239 MONDO:0008260 http://www.w3.org/2004/02/skos/core#exactMatch キンドラー症候群 Kindler syndrome https://monarchinitiative.org/MONDO:0008260 NANDO:1200258 http://nanbyodata.jp/ontology/NANDO_1200258 MONDO:0008538 http://www.w3.org/2004/02/skos/core#exactMatch 側頭動脈炎 temporal arteritis https://monarchinitiative.org/MONDO:0008538 NANDO:1200266 http://nanbyodata.jp/ontology/NANDO_1200266 MONDO:0008889 http://www.w3.org/2004/02/skos/core#exactMatch 閉塞性血栓血管炎 thromboangiitis obliterans https://monarchinitiative.org/MONDO:0008889 NANDO:1200207 http://nanbyodata.jp/ontology/NANDO_1200207 MONDO:0008947 http://www.w3.org/2004/02/skos/core#exactMatch 両側性大脳基底核石灰化症 bilateral striopallidodentate calcinosis https://monarchinitiative.org/MONDO:0008947 NANDO:1200238 http://nanbyodata.jp/ontology/NANDO_1200238 MONDO:0009179 http://www.w3.org/2004/02/skos/core#exactMatch 劣性栄養障害型表皮水疱症 recessive dystrophic epidermolysis bullosa https://monarchinitiative.org/MONDO:0009179 NANDO:1200215 http://nanbyodata.jp/ontology/NANDO_1200215 MONDO:0009681 http://www.w3.org/2004/02/skos/core#closeMatch ウルリッヒ型先天性筋ジストロフィー1A Ullrich congenital muscular dystrophy 1A https://monarchinitiative.org/MONDO:0009681 NANDO:1200217 http://nanbyodata.jp/ontology/NANDO_1200217 MONDO:0009685 http://www.w3.org/2004/02/skos/core#exactMatch 三好型ミオパチー Miyoshi myopathy https://monarchinitiative.org/MONDO:0009685 NANDO:1200224 http://nanbyodata.jp/ontology/NANDO_1200224 MONDO:0009717 http://www.w3.org/2004/02/skos/core#exactMatch シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome https://monarchinitiative.org/MONDO:0009717 NANDO:1200196 http://nanbyodata.jp/ontology/NANDO_1200196 MONDO:0009835 http://www.w3.org/2004/02/skos/core#closeMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis https://monarchinitiative.org/MONDO:0009835 NANDO:1200198 http://nanbyodata.jp/ontology/NANDO_1200198 MONDO:0009835 http://www.w3.org/2004/02/skos/core#closeMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis https://monarchinitiative.org/MONDO:0009835 NANDO:1200195 http://nanbyodata.jp/ontology/NANDO_1200195 MONDO:0009835 http://www.w3.org/2004/02/skos/core#exactMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis https://monarchinitiative.org/MONDO:0009835 NANDO:1200222 http://nanbyodata.jp/ontology/NANDO_1200222 MONDO:0010281 http://www.w3.org/2004/02/skos/core#exactMatch ダノン病 Danon disease https://monarchinitiative.org/MONDO:0010281 NANDO:1200223 http://nanbyodata.jp/ontology/NANDO_1200223 MONDO:0010684 http://www.w3.org/2004/02/skos/core#exactMatch 過剰自己貪食を伴うX連鎖性ミオパチー X-linked myopathy with excessive autophagy https://monarchinitiative.org/MONDO:0010684 NANDO:1200191 http://nanbyodata.jp/ontology/NANDO_1200191 MONDO:0010808 http://www.w3.org/2004/02/skos/core#exactMatch 致死性家族性不眠症 fatal familial insomnia https://monarchinitiative.org/MONDO:0010808 NANDO:1200218 http://nanbyodata.jp/ontology/NANDO_1200218 MONDO:0011603 http://www.w3.org/2004/02/skos/core#exactMatch 縁取り空胞を伴う遠位型ミオパチー GNE myopathy https://monarchinitiative.org/MONDO:0011603 NANDO:1200263 http://nanbyodata.jp/ontology/NANDO_1200263 MONDO:0012105 http://www.w3.org/2004/02/skos/core#exactMatch 多発血管炎性肉芽腫症 granulomatosis with polyangiitis https://monarchinitiative.org/MONDO:0012105 NANDO:1200244 http://nanbyodata.jp/ontology/NANDO_1200244 MONDO:0013626 http://www.w3.org/2004/02/skos/core#exactMatch 乾癬14, 膿疱性 psoriasis 14, pustular https://monarchinitiative.org/MONDO:0013626 NANDO:1200218 http://nanbyodata.jp/ontology/NANDO_1200218 MONDO:0014945 http://www.w3.org/2004/02/skos/core#closeMatch 縁取り空胞を伴う遠位型ミオパチー myopathy, distal, with rimmed vacuoles https://monarchinitiative.org/MONDO:0014945 NANDO:1200264 http://nanbyodata.jp/ontology/NANDO_1200264 MONDO:0015943 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性多発血管炎性肉芽腫症 eosinophilic granulomatosis with polyangiitis https://monarchinitiative.org/MONDO:0015943 NANDO:1200187 http://nanbyodata.jp/ontology/NANDO_1200187 MONDO:0016079 http://www.w3.org/2004/02/skos/core#exactMatch 孤発性クロイツフェルト・ヤコブ病 sporadic Creutzfeldt-Jakob disease https://monarchinitiative.org/MONDO:0016079 NANDO:1200205 http://nanbyodata.jp/ontology/NANDO_1200205 MONDO:0016318 http://www.w3.org/2004/02/skos/core#exactMatch 進行性多巣性白質脳症 progressive multifocal leukoencephalopathy https://monarchinitiative.org/MONDO:0016318 NANDO:1200183 http://nanbyodata.jp/ontology/NANDO_1200183 MONDO:0016820 http://www.w3.org/2004/02/skos/core#exactMatch もやもや病 Moyamoya disease https://monarchinitiative.org/MONDO:0016820 NANDO:1200235 http://nanbyodata.jp/ontology/NANDO_1200235 MONDO:0017610 http://www.w3.org/2004/02/skos/core#exactMatch 単純型表皮水疱症 epidermolysis bullosa simplex https://monarchinitiative.org/MONDO:0017610 NANDO:1200236 http://nanbyodata.jp/ontology/NANDO_1200236 MONDO:0017612 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症 junctional epidermolysis bullosa https://monarchinitiative.org/MONDO:0017612 NANDO:1200209 http://nanbyodata.jp/ontology/NANDO_1200209 MONDO:0017816 http://www.w3.org/2004/02/skos/core#exactMatch 原発性全身性アミロイドーシス primary systemic amyloidosis https://monarchinitiative.org/MONDO:0017816 NANDO:1200251 http://nanbyodata.jp/ontology/NANDO_1200251 MONDO:0017991 http://www.w3.org/2004/02/skos/core#exactMatch 高安動脈炎 Takayasu arteritis https://monarchinitiative.org/MONDO:0017991 NANDO:1200212 http://nanbyodata.jp/ontology/NANDO_1200212 MONDO:0018018 http://www.w3.org/2004/02/skos/core#exactMatch 野生型ATTRアミロイドーシス wild type ATTR amyloidosis https://monarchinitiative.org/MONDO:0018018 NANDO:1200245 http://nanbyodata.jp/ontology/NANDO_1200245 MONDO:0018229 http://www.w3.org/2004/02/skos/core#exactMatch スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome https://monarchinitiative.org/MONDO:0018229 NANDO:1200192 http://nanbyodata.jp/ontology/NANDO_1200192 MONDO:0018686 http://www.w3.org/2004/02/skos/core#exactMatch 獲得性クロイツフェルト・ヤコブ病 acquired Creutzfeldt-Jakob disease https://monarchinitiative.org/MONDO:0018686 NANDO:1200270 http://nanbyodata.jp/ontology/NANDO_1200270 MONDO:0018737 http://www.w3.org/2004/02/skos/core#exactMatch 劇症型原発性抗リン脂質抗体症候群 catastrophic antiphospholipid syndrome https://monarchinitiative.org/MONDO:0018737 NANDO:1200216 http://nanbyodata.jp/ontology/NANDO_1200216 MONDO:0018949 http://www.w3.org/2004/02/skos/core#exactMatch 遠位型ミオパチー distal myopathy https://monarchinitiative.org/MONDO:0018949 NANDO:1200231 http://nanbyodata.jp/ontology/NANDO_1200231 MONDO:0018974 http://www.w3.org/2004/02/skos/core#exactMatch 腫瘍随伴性天疱瘡 paraneoplastic pemphigus https://monarchinitiative.org/MONDO:0018974 NANDO:1200225 http://nanbyodata.jp/ontology/NANDO_1200225 MONDO:0018975 http://www.w3.org/2004/02/skos/core#closeMatch 神経線維腫症1型 neurofibromatosis type 1 https://monarchinitiative.org/MONDO:0018975 NANDO:1200226 http://nanbyodata.jp/ontology/NANDO_1200226 MONDO:0018975 http://www.w3.org/2004/02/skos/core#exactMatch 神経線維腫症1型 neurofibromatosis type 1 https://monarchinitiative.org/MONDO:0018975 NANDO:1200262 http://nanbyodata.jp/ontology/NANDO_1200262 MONDO:0019124 http://www.w3.org/2004/02/skos/core#exactMatch 顕微鏡的多発血管炎 microscopic polyangiitis https://monarchinitiative.org/MONDO:0019124 NANDO:1200261 http://nanbyodata.jp/ontology/NANDO_1200261 MONDO:0019170 http://www.w3.org/2004/02/skos/core#exactMatch 結節性多発動脈炎 polyarteritis nodosa https://monarchinitiative.org/MONDO:0019170 NANDO:1200232 http://nanbyodata.jp/ontology/NANDO_1200232 MONDO:0019322 http://www.w3.org/2004/02/skos/core#exactMatch 増殖性天疱瘡 pemphigus vegetans https://monarchinitiative.org/MONDO:0019322 NANDO:1200233 http://nanbyodata.jp/ontology/NANDO_1200233 MONDO:0019323 http://www.w3.org/2004/02/skos/core#exactMatch 紅斑性天疱瘡 pemphigus erythematosus https://monarchinitiative.org/MONDO:0019323 NANDO:1200230 http://nanbyodata.jp/ontology/NANDO_1200230 MONDO:0019324 http://www.w3.org/2004/02/skos/core#exactMatch 落葉状天疱瘡 pemphigus foliaceus https://monarchinitiative.org/MONDO:0019324 NANDO:1200211 http://nanbyodata.jp/ontology/NANDO_1200211 MONDO:0019438 http://www.w3.org/2004/02/skos/core#exactMatch ALミロイドーシス AL amyloidosis https://monarchinitiative.org/MONDO:0019438 NANDO:1200246 http://nanbyodata.jp/ontology/NANDO_1200246 MONDO:0019810 http://www.w3.org/2004/02/skos/core#exactMatch 中毒性表皮壊死症 toxic epidermal necrolysis https://monarchinitiative.org/MONDO:0019810 NANDO:1200219 http://nanbyodata.jp/ontology/NANDO_1200219 MONDO:0020793 http://www.w3.org/2004/02/skos/core#closeMatch 眼咽頭遠位型ミオパチー oculopharyngodistal myopathy 1 https://monarchinitiative.org/MONDO:0020793 NANDO:1200208 http://nanbyodata.jp/ontology/NANDO_1200208 MONDO:0024538 http://www.w3.org/2004/02/skos/core#exactMatch 家族性特発性基底核石灰化症 basal ganglia calcification, idiopathic, 1 https://monarchinitiative.org/MONDO:0024538 NANDO:1200219 http://nanbyodata.jp/ontology/NANDO_1200219 MONDO:0025193 http://www.w3.org/2004/02/skos/core#exactMatch 眼咽頭遠位型ミオパチー oculopharyngodistal myopathy https://monarchinitiative.org/MONDO:0025193 NANDO:1200193 http://nanbyodata.jp/ontology/NANDO_1200193 MONDO:0034976 http://www.w3.org/2004/02/skos/core#exactMatch 医原性クロイツフェルト・ヤコブ病 iatrogenic Creutzfeldt-Jakob disease https://monarchinitiative.org/MONDO:0034976 NANDO:1200243 http://nanbyodata.jp/ontology/NANDO_1200243 MONDO:0004591 http://www.w3.org/2004/02/skos/core#exactMatch "" impetigo herpetiformis https://monarchinitiative.org/MONDO:0004591 NANDO:1200267 http://nanbyodata.jp/ontology/NANDO_1200267 MONDO:0005204 http://www.w3.org/2004/02/skos/core#exactMatch "" primary antiphospholipid syndrome https://monarchinitiative.org/MONDO:0005204 NANDO:1200186 http://nanbyodata.jp/ontology/NANDO_1200186 MONDO:0005429 http://www.w3.org/2004/02/skos/core#exactMatch "" prion disease https://monarchinitiative.org/MONDO:0005429 NANDO:1200234 http://nanbyodata.jp/ontology/NANDO_1200234 MONDO:0006541 http://www.w3.org/2004/02/skos/core#exactMatch "" epidermolysis bullosa https://monarchinitiative.org/MONDO:0006541 NANDO:1200228 http://nanbyodata.jp/ontology/NANDO_1200228 MONDO:0006594 http://www.w3.org/2004/02/skos/core#exactMatch "" pemphigus https://monarchinitiative.org/MONDO:0006594 NANDO:1200251 http://nanbyodata.jp/ontology/NANDO_1200251 MONDO:0006656 http://www.w3.org/2004/02/skos/core#closeMatch "" aortitis https://monarchinitiative.org/MONDO:0006656 NANDO:1200226 http://nanbyodata.jp/ontology/NANDO_1200226 MONDO:0021061 http://www.w3.org/2004/02/skos/core#closeMatch "" neurofibromatosis https://monarchinitiative.org/MONDO:0021061 NANDO:1200227 http://nanbyodata.jp/ontology/NANDO_1200227 MONDO:0021061 http://www.w3.org/2004/02/skos/core#closeMatch "" neurofibromatosis https://monarchinitiative.org/MONDO:0021061 NANDO:1200225 http://nanbyodata.jp/ontology/NANDO_1200225 MONDO:0021061 http://www.w3.org/2004/02/skos/core#exactMatch "" neurofibromatosis https://monarchinitiative.org/MONDO:0021061 NANDO:1200240 http://nanbyodata.jp/ontology/NANDO_1200240 MONDO:0022205 http://www.w3.org/2004/02/skos/core#exactMatch "" pustular psoriasis https://monarchinitiative.org/MONDO:0022205 NANDO:1200265 http://nanbyodata.jp/ontology/NANDO_1200265 MONDO:0043267 http://www.w3.org/2004/02/skos/core#exactMatch "" rheumatoid vasculitis https://monarchinitiative.org/MONDO:0043267 NANDO:1200334 http://nanbyodata.jp/ontology/NANDO_1200334 MONDO:0000133 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全-動原体不安定性-顔面奇形症候群 immunodeficiency-centromeric instability-facial anomalies syndrome https://monarchinitiative.org/MONDO:0000133 NANDO:1200302 http://nanbyodata.jp/ontology/NANDO_1200302 MONDO:0001713 http://www.w3.org/2004/02/skos/core#exactMatch 先天性再生不良性貧血 inherited aplastic anemia https://monarchinitiative.org/MONDO:0001713 NANDO:1200320 http://nanbyodata.jp/ontology/NANDO_1200320 MONDO:0003778 http://www.w3.org/2004/02/skos/core#exactMatch 先天性免疫異常症 inborn error of immunity https://monarchinitiative.org/MONDO:0003778 NANDO:1200364 http://nanbyodata.jp/ontology/NANDO_1200364 MONDO:0003832 http://www.w3.org/2004/02/skos/core#exactMatch 補体欠損症 complement deficiency https://monarchinitiative.org/MONDO:0003832 NANDO:1200288 http://nanbyodata.jp/ontology/NANDO_1200288 MONDO:0005045 http://www.w3.org/2004/02/skos/core#closeMatch 肥大型心筋症 hypertrophic cardiomyopathy https://monarchinitiative.org/MONDO:0005045 NANDO:1200286 http://nanbyodata.jp/ontology/NANDO_1200286 MONDO:0005045 http://www.w3.org/2004/02/skos/core#exactMatch 肥大型心筋症 hypertrophic cardiomyopathy https://monarchinitiative.org/MONDO:0005045 NANDO:1200277 http://nanbyodata.jp/ontology/NANDO_1200277 MONDO:0005100 http://www.w3.org/2004/02/skos/core#exactMatch 全身性硬化症 systemic sclerosis https://monarchinitiative.org/MONDO:0005100 NANDO:1200293 http://nanbyodata.jp/ontology/NANDO_1200293 MONDO:0005201 http://www.w3.org/2004/02/skos/core#closeMatch 拘束型心筋症 restrictive cardiomyopathy https://monarchinitiative.org/MONDO:0005201 NANDO:1200292 http://nanbyodata.jp/ontology/NANDO_1200292 MONDO:0005201 http://www.w3.org/2004/02/skos/core#exactMatch 拘束型心筋症 restrictive cardiomyopathy https://monarchinitiative.org/MONDO:0005201 NANDO:1200366 http://nanbyodata.jp/ontology/NANDO_1200366 MONDO:0005342 http://www.w3.org/2004/02/skos/core#exactMatch IgA腎症 IgA glomerulonephritis https://monarchinitiative.org/MONDO:0005342 NANDO:1200278 http://nanbyodata.jp/ontology/NANDO_1200278 MONDO:0005854 http://www.w3.org/2004/02/skos/core#exactMatch 混合性結合組織病 mixed connective tissue disease https://monarchinitiative.org/MONDO:0005854 NANDO:1200323 http://nanbyodata.jp/ontology/NANDO_1200323 MONDO:0007064 http://www.w3.org/2004/02/skos/core#exactMatch 重症複合免疫不全症, 常染色体潜性, T細胞陰性, B細胞陰性, NK細胞陰性, アデノシンデアミナーゼ欠損による severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency https://monarchinitiative.org/MONDO:0007064 NANDO:1200284 http://nanbyodata.jp/ontology/NANDO_1200284 MONDO:0007191 http://www.w3.org/2004/02/skos/core#exactMatch ベーチェット病 Behcet disease https://monarchinitiative.org/MONDO:0007191 NANDO:1200365 http://nanbyodata.jp/ontology/NANDO_1200365 MONDO:0007361 http://www.w3.org/2004/02/skos/core#closeMatch C1抑制因子欠乏症 C1 inhibitor deficiency https://monarchinitiative.org/MONDO:0007361 NANDO:1200354 http://nanbyodata.jp/ontology/NANDO_1200354 MONDO:0008090 http://www.w3.org/2004/02/skos/core#exactMatch 周期性好中球減少症 cyclic hematopoiesis https://monarchinitiative.org/MONDO:0008090 NANDO:1200315 http://nanbyodata.jp/ontology/NANDO_1200315 MONDO:0008558 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性血小板減少性紫斑病 autoimmune thrombocytopenic purpura https://monarchinitiative.org/MONDO:0008558 NANDO:1200339 http://nanbyodata.jp/ontology/NANDO_1200339 MONDO:0008564 http://www.w3.org/2004/02/skos/core#closeMatch ディジョージ症候群 DiGeorge syndrome https://monarchinitiative.org/MONDO:0008564 NANDO:1200339 http://nanbyodata.jp/ontology/NANDO_1200339 MONDO:0008644 http://www.w3.org/2004/02/skos/core#closeMatch 口蓋帆・心臓・顔症候群 velocardiofacial syndrome https://monarchinitiative.org/MONDO:0008644 NANDO:1200331 http://nanbyodata.jp/ontology/NANDO_1200331 MONDO:0008840 http://www.w3.org/2004/02/skos/core#exactMatch 毛細血管拡張性運動失調症 ataxia telangiectasia https://monarchinitiative.org/MONDO:0008840 NANDO:1200329 http://nanbyodata.jp/ontology/NANDO_1200329 MONDO:0008855 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスII欠損症 MHC class II deficiency https://monarchinitiative.org/MONDO:0008855 NANDO:1200333 http://nanbyodata.jp/ontology/NANDO_1200333 MONDO:0008876 http://www.w3.org/2004/02/skos/core#exactMatch ブルーム症候群 Bloom syndrome https://monarchinitiative.org/MONDO:0008876 NANDO:1200350 http://nanbyodata.jp/ontology/NANDO_1200350 MONDO:0008963 http://www.w3.org/2004/02/skos/core#exactMatch チェディアック・東症候群 Chediak-Higashi syndrome https://monarchinitiative.org/MONDO:0008963 NANDO:1200341 http://nanbyodata.jp/ontology/NANDO_1200341 MONDO:0009338 http://www.w3.org/2004/02/skos/core#exactMatch 肝静脈閉塞症-免疫不全症候群 hepatic veno-occlusive disease-immunodeficiency syndrome https://monarchinitiative.org/MONDO:0009338 NANDO:1200337 http://nanbyodata.jp/ontology/NANDO_1200337 MONDO:0009458 http://www.w3.org/2004/02/skos/core#exactMatch シムケ免疫性骨形成不全 Schimke immuno-osseous dysplasia https://monarchinitiative.org/MONDO:0009458 NANDO:1200332 http://nanbyodata.jp/ontology/NANDO_1200332 MONDO:0009623 http://www.w3.org/2004/02/skos/core#exactMatch ナイミーヘン染色体不安定症候群 Nijmegen breakage syndrome https://monarchinitiative.org/MONDO:0009623 NANDO:1200358 http://nanbyodata.jp/ontology/NANDO_1200358 MONDO:0009694 http://www.w3.org/2004/02/skos/core#exactMatch ミエロペルオキシダーゼ欠損症 myeloperoxidase deficiency https://monarchinitiative.org/MONDO:0009694 NANDO:1200338 http://nanbyodata.jp/ontology/NANDO_1200338 MONDO:0009735 http://www.w3.org/2004/02/skos/core#exactMatch ネザートン症候群 Netherton syndrome https://monarchinitiative.org/MONDO:0009735 NANDO:1200356 http://nanbyodata.jp/ontology/NANDO_1200356 MONDO:0009833 http://www.w3.org/2004/02/skos/core#exactMatch シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome https://monarchinitiative.org/MONDO:0009833 NANDO:1200322 http://nanbyodata.jp/ontology/NANDO_1200322 MONDO:0009973 http://www.w3.org/2004/02/skos/core#exactMatch 細網異形成症 reticular dysgenesis https://monarchinitiative.org/MONDO:0009973 NANDO:1200327 http://nanbyodata.jp/ontology/NANDO_1200327 MONDO:0010023 http://www.w3.org/2004/02/skos/core#exactMatch ZAP70欠損による複合免疫不全症 combined immunodeficiency due to ZAP70 deficiency https://monarchinitiative.org/MONDO:0010023 NANDO:1200280 http://nanbyodata.jp/ontology/NANDO_1200280 MONDO:0010030 http://www.w3.org/2004/02/skos/core#closeMatch シェーグレン症候群 Sjogren syndrome https://monarchinitiative.org/MONDO:0010030 NANDO:1200279 http://nanbyodata.jp/ontology/NANDO_1200279 MONDO:0010030 http://www.w3.org/2004/02/skos/core#exactMatch シェーグレン症候群 Sjogren syndrome https://monarchinitiative.org/MONDO:0010030 NANDO:1200317 http://nanbyodata.jp/ontology/NANDO_1200317 MONDO:0010122 http://www.w3.org/2004/02/skos/core#exactMatch 先天性血栓性血小板減少性紫斑病 congenital thrombotic thrombocytopenic purpura https://monarchinitiative.org/MONDO:0010122 NANDO:1200360 http://nanbyodata.jp/ontology/NANDO_1200360 MONDO:0010293 http://www.w3.org/2004/02/skos/core#exactMatch 外胚葉形成不全および免疫不全症 ectodermal dysplasia and immune deficiency https://monarchinitiative.org/MONDO:0010293 NANDO:1200321 http://nanbyodata.jp/ontology/NANDO_1200321 MONDO:0010315 http://www.w3.org/2004/02/skos/core#exactMatch γ鎖欠損によるT-B+重症複合免疫不全症 T-B+ severe combined immunodeficiency due to gamma chain deficiency https://monarchinitiative.org/MONDO:0010315 NANDO:1200343 http://nanbyodata.jp/ontology/NANDO_1200343 MONDO:0010421 http://www.w3.org/2004/02/skos/core#exactMatch ブルトン型無ガンマグロブリン血症 Bruton-type agammaglobulinemia https://monarchinitiative.org/MONDO:0010421 NANDO:1200330 http://nanbyodata.jp/ontology/NANDO_1200330 MONDO:0010518 http://www.w3.org/2004/02/skos/core#exactMatch ウィスコット・オルドリッチ症候群 Wiskott-Aldrich syndrome https://monarchinitiative.org/MONDO:0010518 NANDO:1200351 http://nanbyodata.jp/ontology/NANDO_1200351 MONDO:0010627 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖リンパ増殖症候群 X-linked lymphoproliferative syndrome https://monarchinitiative.org/MONDO:0010627 NANDO:1200324 http://nanbyodata.jp/ontology/NANDO_1200324 MONDO:0011338 http://www.w3.org/2004/02/skos/core#exactMatch オーメン症候群 Omenn syndrome https://monarchinitiative.org/MONDO:0011338 NANDO:1200328 http://nanbyodata.jp/ontology/NANDO_1200328 MONDO:0011476 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスI欠損症 MHC class I deficiency https://monarchinitiative.org/MONDO:0011476 NANDO:1200361 http://nanbyodata.jp/ontology/NANDO_1200361 MONDO:0011888 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症67 immunodeficiency 67 https://monarchinitiative.org/MONDO:0011888 NANDO:1200326 http://nanbyodata.jp/ontology/NANDO_1200326 MONDO:0012161 http://www.w3.org/2004/02/skos/core#exactMatch CD8α鎖変異に関連する呼吸器感染に対する感受性 susceptibility to respiratory infections associated with CD8alpha chain mutation https://monarchinitiative.org/MONDO:0012161 NANDO:1200296 http://nanbyodata.jp/ontology/NANDO_1200296 MONDO:0012197 http://www.w3.org/2004/02/skos/core#exactMatch 特発性再生不良性貧血 idiopathic aplastic anemia https://monarchinitiative.org/MONDO:0012197 NANDO:1200336 http://nanbyodata.jp/ontology/NANDO_1200336 MONDO:0012764 http://www.w3.org/2004/02/skos/core#exactMatch RIDDLE症候群 RIDDLE syndrome https://monarchinitiative.org/MONDO:0012764 NANDO:1200362 http://nanbyodata.jp/ontology/NANDO_1200362 MONDO:0012839 http://www.w3.org/2004/02/skos/core#exactMatch MyD88欠損症 pyogenic bacterial infections due to MyD88 deficiency https://monarchinitiative.org/MONDO:0012839 NANDO:1200325 http://nanbyodata.jp/ontology/NANDO_1200325 MONDO:0013171 http://www.w3.org/2004/02/skos/core#exactMatch プリンヌクレオシドホスホリラーゼ欠損症 purine nucleoside phosphorylase deficiency https://monarchinitiative.org/MONDO:0013171 NANDO:1200301 http://nanbyodata.jp/ontology/NANDO_1200301 MONDO:0013851 http://www.w3.org/2004/02/skos/core#closeMatch MDSとの境界型 autosomal dominant aplasia and myelodysplasia https://monarchinitiative.org/MONDO:0013851 NANDO:1200363 http://nanbyodata.jp/ontology/NANDO_1200363 MONDO:0015279 http://www.w3.org/2004/02/skos/core#exactMatch 慢性皮膚粘膜カンジダ症 chronic mucocutaneous candidiasis https://monarchinitiative.org/MONDO:0015279 NANDO:1200344 http://nanbyodata.jp/ontology/NANDO_1200344 MONDO:0015517 http://www.w3.org/2004/02/skos/core#exactMatch 分類不能型免疫不全症 common variable immunodeficiency https://monarchinitiative.org/MONDO:0015517 NANDO:1200349 http://nanbyodata.jp/ontology/NANDO_1200349 MONDO:0015698 http://www.w3.org/2004/02/skos/core#exactMatch 乳児一過性低ガンマグロブリン血症 transient hypogammaglobulinemia of infancy https://monarchinitiative.org/MONDO:0015698 NANDO:1200304 http://nanbyodata.jp/ontology/NANDO_1200304 MONDO:0015780 http://www.w3.org/2004/02/skos/core#exactMatch 先天性角化異常症 dyskeratosis congenita https://monarchinitiative.org/MONDO:0015780 NANDO:1200301 http://nanbyodata.jp/ontology/NANDO_1200301 MONDO:0015909 http://www.w3.org/2004/02/skos/core#closeMatch 再生不良性貧血 aplastic anemia https://monarchinitiative.org/MONDO:0015909 NANDO:1200295 http://nanbyodata.jp/ontology/NANDO_1200295 MONDO:0015909 http://www.w3.org/2004/02/skos/core#exactMatch 再生不良性貧血 aplastic anemia https://monarchinitiative.org/MONDO:0015909 NANDO:1200310 http://nanbyodata.jp/ontology/NANDO_1200310 MONDO:0016030 http://www.w3.org/2004/02/skos/core#exactMatch エヴァンズ症候群 Evans syndrome https://monarchinitiative.org/MONDO:0016030 NANDO:1200294 http://nanbyodata.jp/ontology/NANDO_1200294 MONDO:0016345 http://www.w3.org/2004/02/skos/core#exactMatch 非家族性拘束型心筋症 non-familial restrictive cardiomyopathy https://monarchinitiative.org/MONDO:0016345 NANDO:1200274 http://nanbyodata.jp/ontology/NANDO_1200274 MONDO:0016367 http://www.w3.org/2004/02/skos/core#exactMatch 皮膚筋炎 dermatomyositis https://monarchinitiative.org/MONDO:0016367 NANDO:1200355 http://nanbyodata.jp/ontology/NANDO_1200355 MONDO:0017570 http://www.w3.org/2004/02/skos/core#exactMatch 白血球接着不全症 leukocyte adhesion deficiency https://monarchinitiative.org/MONDO:0017570 NANDO:1200352 http://nanbyodata.jp/ontology/NANDO_1200352 MONDO:0017979 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性リンパ増殖症候群 autoimmune lymphoproliferative syndrome https://monarchinitiative.org/MONDO:0017979 NANDO:1200340 http://nanbyodata.jp/ontology/NANDO_1200340 MONDO:0018037 http://www.w3.org/2004/02/skos/core#exactMatch 高IgE症候群 hyper-IgE syndrome https://monarchinitiative.org/MONDO:0018037 NANDO:1200357 http://nanbyodata.jp/ontology/NANDO_1200357 MONDO:0018305 http://www.w3.org/2004/02/skos/core#exactMatch 慢性肉芽腫症 chronic granulomatous disease https://monarchinitiative.org/MONDO:0018305 NANDO:1200353 http://nanbyodata.jp/ontology/NANDO_1200353 MONDO:0018542 http://www.w3.org/2004/02/skos/core#exactMatch 重症先天性好中球減少症 severe congenital neutropenia https://monarchinitiative.org/MONDO:0018542 NANDO:1200316 http://nanbyodata.jp/ontology/NANDO_1200316 MONDO:0018896 http://www.w3.org/2004/02/skos/core#exactMatch 血栓性血小板減少性紫斑病 thrombotic thrombocytopenic purpura https://monarchinitiative.org/MONDO:0018896 NANDO:1200307 http://nanbyodata.jp/ontology/NANDO_1200307 MONDO:0018922 http://www.w3.org/2004/02/skos/core#exactMatch 寒冷凝集素症 cold agglutinin disease https://monarchinitiative.org/MONDO:0018922 NANDO:1200339 http://nanbyodata.jp/ontology/NANDO_1200339 MONDO:0018923 http://www.w3.org/2004/02/skos/core#closeMatch 22q11.2欠失症候群 22q11.2 deletion syndrome https://monarchinitiative.org/MONDO:0018923 NANDO:1200283 http://nanbyodata.jp/ontology/NANDO_1200283 MONDO:0019125 http://www.w3.org/2004/02/skos/core#exactMatch 再発性多発軟骨炎 relapsing polychondritis https://monarchinitiative.org/MONDO:0019125 NANDO:1200276 http://nanbyodata.jp/ontology/NANDO_1200276 MONDO:0019127 http://www.w3.org/2004/02/skos/core#exactMatch 多発性筋炎 polymyositis https://monarchinitiative.org/MONDO:0019127 NANDO:1200359 http://nanbyodata.jp/ontology/NANDO_1200359 MONDO:0019146 http://www.w3.org/2004/02/skos/core#exactMatch メンデル遺伝型マイコバクテリア易感染症 inherited susceptibility to mycobacterial diseases https://monarchinitiative.org/MONDO:0019146 NANDO:1200282 http://nanbyodata.jp/ontology/NANDO_1200282 MONDO:0019355 http://www.w3.org/2004/02/skos/core#exactMatch 成人スチル病 adult-onset Still disease https://monarchinitiative.org/MONDO:0019355 NANDO:1200306 http://nanbyodata.jp/ontology/NANDO_1200306 MONDO:0019532 http://www.w3.org/2004/02/skos/core#exactMatch 温式自己免疫性溶血性貧血 autoimmune hemolytic anemia, warm type https://monarchinitiative.org/MONDO:0019532 NANDO:1200308 http://nanbyodata.jp/ontology/NANDO_1200308 MONDO:0019533 http://www.w3.org/2004/02/skos/core#exactMatch 発作性寒冷ヘモグロビン尿症 paroxysmal cold hemoglobinuria https://monarchinitiative.org/MONDO:0019533 NANDO:1200309 http://nanbyodata.jp/ontology/NANDO_1200309 MONDO:0019534 http://www.w3.org/2004/02/skos/core#exactMatch 混合型自己免疫性溶血性貧血 mixed-type autoimmune hemolytic anemia https://monarchinitiative.org/MONDO:0019534 NANDO:1200365 http://nanbyodata.jp/ontology/NANDO_1200365 MONDO:0019623 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性血管性浮腫 hereditary angioedema https://monarchinitiative.org/MONDO:0019623 NANDO:1200319 http://nanbyodata.jp/ontology/NANDO_1200319 MONDO:0019740 http://www.w3.org/2004/02/skos/core#closeMatch 後天性血栓性血小板減少性紫斑病 acquired thrombotic thrombocytopenic purpura https://monarchinitiative.org/MONDO:0019740 NANDO:1200318 http://nanbyodata.jp/ontology/NANDO_1200318 MONDO:0019740 http://www.w3.org/2004/02/skos/core#exactMatch 後天性血栓性血小板減少性紫斑病 acquired thrombotic thrombocytopenic purpura https://monarchinitiative.org/MONDO:0019740 NANDO:1200305 http://nanbyodata.jp/ontology/NANDO_1200305 MONDO:0020108 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性溶血性貧血 autoimmune hemolytic anemia https://monarchinitiative.org/MONDO:0020108 NANDO:1200275 http://nanbyodata.jp/ontology/NANDO_1200275 MONDO:0043317 http://www.w3.org/2004/02/skos/core#exactMatch 無筋炎型皮膚筋炎 amyopathic dermatomyositis https://monarchinitiative.org/MONDO:0043317 NANDO:1200347 http://nanbyodata.jp/ontology/NANDO_1200347 MONDO:0001341 http://www.w3.org/2004/02/skos/core#exactMatch "" selective IgA deficiency disease https://monarchinitiative.org/MONDO:0001341 NANDO:1200345 http://nanbyodata.jp/ontology/NANDO_1200345 MONDO:0003947 http://www.w3.org/2004/02/skos/core#exactMatch "" hyper-IgM syndrome https://monarchinitiative.org/MONDO:0003947 NANDO:1200346 http://nanbyodata.jp/ontology/NANDO_1200346 MONDO:0045045 http://www.w3.org/2004/02/skos/core#exactMatch "" selective IgG immunodeficiency https://monarchinitiative.org/MONDO:0045045 NANDO:1200416 http://nanbyodata.jp/ontology/NANDO_1200416 MONDO:0002429 http://www.w3.org/2004/02/skos/core#exactMatch 特発性間質性肺炎 idiopathic interstitial pneumonia https://monarchinitiative.org/MONDO:0002429 NANDO:1200368 http://nanbyodata.jp/ontology/NANDO_1200368 MONDO:0004691 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体顕性多嚢胞性腎疾患 autosomal dominant polycystic kidney disease https://monarchinitiative.org/MONDO:0004691 NANDO:1200439 http://nanbyodata.jp/ontology/NANDO_1200439 MONDO:0005388 http://www.w3.org/2004/02/skos/core#exactMatch 原発性胆汁性胆管炎 primary biliary cholangitis https://monarchinitiative.org/MONDO:0005388 NANDO:1200385 http://nanbyodata.jp/ontology/NANDO_1200385 MONDO:0006238 http://www.w3.org/2004/02/skos/core#closeMatch 成長ホルモン産生性下垂体腺腫 growth hormone-producing pituitary gland adenoma https://monarchinitiative.org/MONDO:0006238 NANDO:1200386 http://nanbyodata.jp/ontology/NANDO_1200386 MONDO:0006238 http://www.w3.org/2004/02/skos/core#closeMatch 成長ホルモン産生性下垂体腺腫 growth hormone-producing pituitary gland adenoma https://monarchinitiative.org/MONDO:0006238 NANDO:1200375 http://nanbyodata.jp/ontology/NANDO_1200375 MONDO:0007450 http://www.w3.org/2004/02/skos/core#exactMatch 神経下垂体性尿崩症 neurohypophyseal diabetes insipidus https://monarchinitiative.org/MONDO:0007450 NANDO:1200398 http://nanbyodata.jp/ontology/NANDO_1200398 MONDO:0008727 http://www.w3.org/2004/02/skos/core#exactMatch 3β-ヒドロキシステロイドデヒドロゲナーゼ欠損による先天性副腎過形成症 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008727 NANDO:1200399 http://nanbyodata.jp/ontology/NANDO_1200399 MONDO:0008728 http://www.w3.org/2004/02/skos/core#exactMatch 21水酸化酵素欠損による古典型先天性副腎過形成症 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency https://monarchinitiative.org/MONDO:0008728 NANDO:1200400 http://nanbyodata.jp/ontology/NANDO_1200400 MONDO:0008729 http://www.w3.org/2004/02/skos/core#exactMatch 11β-水酸化酵素欠損による先天性副腎過形成症 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency https://monarchinitiative.org/MONDO:0008729 NANDO:1200401 http://nanbyodata.jp/ontology/NANDO_1200401 MONDO:0008730 http://www.w3.org/2004/02/skos/core#exactMatch 17α-水酸化酵素欠損による先天性副腎過形成症 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency https://monarchinitiative.org/MONDO:0008730 NANDO:1200460 http://nanbyodata.jp/ontology/NANDO_1200460 MONDO:0008738 http://www.w3.org/2004/02/skos/core#exactMatch 神経節細胞欠損症, 全腸管 aganglionosis, total intestinal https://monarchinitiative.org/MONDO:0008738 NANDO:1200379 http://nanbyodata.jp/ontology/NANDO_1200379 MONDO:0009050 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体腺腫によるクッシング病 Cushing disease due to pituitary adenoma https://monarchinitiative.org/MONDO:0009050 NANDO:1200410 http://nanbyodata.jp/ontology/NANDO_1200410 MONDO:0009279 http://www.w3.org/2004/02/skos/core#exactMatch AAA症候群 triple-A syndrome https://monarchinitiative.org/MONDO:0009279 NANDO:1200424 http://nanbyodata.jp/ontology/NANDO_1200424 MONDO:0009537 http://www.w3.org/2004/02/skos/core#exactMatch リンパ球性間質性肺炎 lymphoid interstitial pneumonia https://monarchinitiative.org/MONDO:0009537 NANDO:1200423 http://nanbyodata.jp/ontology/NANDO_1200423 MONDO:0009887 http://www.w3.org/2004/02/skos/core#closeMatch 剥離性間質性肺炎 desquamative interstitial pneumonia https://monarchinitiative.org/MONDO:0009887 NANDO:1200422 http://nanbyodata.jp/ontology/NANDO_1200422 MONDO:0009887 http://www.w3.org/2004/02/skos/core#exactMatch 剥離性間質性肺炎 desquamative interstitial pneumonia https://monarchinitiative.org/MONDO:0009887 NANDO:1200369 http://nanbyodata.jp/ontology/NANDO_1200369 MONDO:0009889 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性多嚢胞性腎疾患 autosomal recessive polycystic kidney disease https://monarchinitiative.org/MONDO:0009889 NANDO:1200427 http://nanbyodata.jp/ontology/NANDO_1200427 MONDO:0009937 http://www.w3.org/2004/02/skos/core#exactMatch 肺静脈閉塞症 pulmonary venoocclusive disease https://monarchinitiative.org/MONDO:0009937 NANDO:1200395 http://nanbyodata.jp/ontology/NANDO_1200395 MONDO:0010131 http://www.w3.org/2004/02/skos/core#closeMatch 甲状腺ホルモン不応症, 全身型, 常染色体潜性 thyroid hormone resistance, generalized, autosomal recessive https://monarchinitiative.org/MONDO:0010131 NANDO:1200404 http://nanbyodata.jp/ontology/NANDO_1200404 MONDO:0010226 http://www.w3.org/2004/02/skos/core#exactMatch 46,XY性逆転2 46,XY sex reversal 2 https://monarchinitiative.org/MONDO:0010226 NANDO:1200403 http://nanbyodata.jp/ontology/NANDO_1200403 MONDO:0010264 http://www.w3.org/2004/02/skos/core#closeMatch X連鎖性先天性副腎低形成症 X-linked adrenal hypoplasia congenita https://monarchinitiative.org/MONDO:0010264 NANDO:1200378 http://nanbyodata.jp/ontology/NANDO_1200378 MONDO:0010911 http://www.w3.org/2004/02/skos/core#exactMatch プロラクチン産生性下垂体腺腫 prolactin-producing pituitary gland adenoma https://monarchinitiative.org/MONDO:0010911 NANDO:1200437 http://nanbyodata.jp/ontology/NANDO_1200437 MONDO:0010947 http://www.w3.org/2004/02/skos/core#exactMatch バッド・キアリ症候群 Budd-Chiari syndrome https://monarchinitiative.org/MONDO:0010947 NANDO:1200371 http://nanbyodata.jp/ontology/NANDO_1200371 MONDO:0011230 http://www.w3.org/2004/02/skos/core#exactMatch 脊椎後縦靱帯骨化症 ossification of the posterior longitudinal ligament of the spine https://monarchinitiative.org/MONDO:0011230 NANDO:1200430 http://nanbyodata.jp/ontology/NANDO_1200430 MONDO:0011705 http://www.w3.org/2004/02/skos/core#exactMatch リンパ脈管筋腫症 lymphangioleiomyomatosis https://monarchinitiative.org/MONDO:0011705 NANDO:1200373 http://nanbyodata.jp/ontology/NANDO_1200373 MONDO:0012126 http://www.w3.org/2004/02/skos/core#exactMatch 家族性虚血性大腿骨頭壊死 familial avascular necrosis of femoral head https://monarchinitiative.org/MONDO:0012126 NANDO:1200429 http://nanbyodata.jp/ontology/NANDO_1200429 MONDO:0013024 http://www.w3.org/2004/02/skos/core#exactMatch 慢性血栓塞栓性肺高血圧症 chronic thromboembolic pulmonary hypertension https://monarchinitiative.org/MONDO:0013024 NANDO:1200405 http://nanbyodata.jp/ontology/NANDO_1200405 MONDO:0013066 http://www.w3.org/2004/02/skos/core#exactMatch 46,XY性逆転3 46,XY sex reversal 3 https://monarchinitiative.org/MONDO:0013066 NANDO:1200402 http://nanbyodata.jp/ontology/NANDO_1200402 MONDO:0013310 http://www.w3.org/2004/02/skos/core#exactMatch P450酸化還元酵素欠損症 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency https://monarchinitiative.org/MONDO:0013310 NANDO:1200440 http://nanbyodata.jp/ontology/NANDO_1200440 MONDO:0013433 http://www.w3.org/2004/02/skos/core#exactMatch 原発性硬化性胆管炎 primary sclerosing cholangitis https://monarchinitiative.org/MONDO:0013433 NANDO:1200406 http://nanbyodata.jp/ontology/NANDO_1200406 MONDO:0013873 http://www.w3.org/2004/02/skos/core#exactMatch IMAge症候群 IMAGe syndrome https://monarchinitiative.org/MONDO:0013873 NANDO:1200411 http://nanbyodata.jp/ontology/NANDO_1200411 MONDO:0015129 http://www.w3.org/2004/02/skos/core#exactMatch アジソン病 chronic primary adrenal insufficiency https://monarchinitiative.org/MONDO:0015129 NANDO:1200421 http://nanbyodata.jp/ontology/NANDO_1200421 MONDO:0015264 http://www.w3.org/2004/02/skos/core#exactMatch 特発性器質化肺炎 cryptogenic organizing pneumonia https://monarchinitiative.org/MONDO:0015264 NANDO:1200375 http://nanbyodata.jp/ontology/NANDO_1200375 MONDO:0015790 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性尿崩症 central diabetes insipidus https://monarchinitiative.org/MONDO:0015790 NANDO:1200425 http://nanbyodata.jp/ontology/NANDO_1200425 MONDO:0015924 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈性肺高血圧症 pulmonary arterial hypertension https://monarchinitiative.org/MONDO:0015924 NANDO:1200457 http://nanbyodata.jp/ontology/NANDO_1200457 MONDO:0016129 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性胃腸炎 eosinophilic gastroenteritis https://monarchinitiative.org/MONDO:0016129 NANDO:1200442 http://nanbyodata.jp/ontology/NANDO_1200442 MONDO:0016264 http://www.w3.org/2004/02/skos/core#closeMatch 自己免疫性肝炎 autoimmune hepatitis https://monarchinitiative.org/MONDO:0016264 NANDO:1200441 http://nanbyodata.jp/ontology/NANDO_1200441 MONDO:0016264 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性肝炎 autoimmune hepatitis https://monarchinitiative.org/MONDO:0016264 NANDO:1200390 http://nanbyodata.jp/ontology/NANDO_1200390 MONDO:0016410 http://www.w3.org/2004/02/skos/core#exactMatch 甲状腺刺激ホルモン分泌低下症 central congenital hypothyroidism https://monarchinitiative.org/MONDO:0016410 NANDO:1200458 http://nanbyodata.jp/ontology/NANDO_1200458 MONDO:0017574 http://www.w3.org/2004/02/skos/core#exactMatch 慢性偽性腸閉塞 chronic intestinal pseudoobstruction https://monarchinitiative.org/MONDO:0017574 NANDO:1200394 http://nanbyodata.jp/ontology/NANDO_1200394 MONDO:0018328 http://www.w3.org/2004/02/skos/core#exactMatch ホモ接合性家族性高コレステロール血症 homozygous familial hypercholesterolemia https://monarchinitiative.org/MONDO:0018328 NANDO:1200454 http://nanbyodata.jp/ontology/NANDO_1200454 MONDO:0018438 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性消化管疾患 eosinophilic gastrointestinal disease https://monarchinitiative.org/MONDO:0018438 NANDO:1200396 http://nanbyodata.jp/ontology/NANDO_1200396 MONDO:0018479 http://www.w3.org/2004/02/skos/core#closeMatch 先天性副腎皮質酵素欠損症 congenital adrenal hyperplasia https://monarchinitiative.org/MONDO:0018479 NANDO:1200397 http://nanbyodata.jp/ontology/NANDO_1200397 MONDO:0018479 http://www.w3.org/2004/02/skos/core#exactMatch 先天性副腎皮質酵素欠損症 congenital adrenal hyperplasia https://monarchinitiative.org/MONDO:0018479 NANDO:1200428 http://nanbyodata.jp/ontology/NANDO_1200428 MONDO:0018554 http://www.w3.org/2004/02/skos/core#closeMatch 肺静脈閉塞症/肺毛細血管腫症 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis https://monarchinitiative.org/MONDO:0018554 NANDO:1200426 http://nanbyodata.jp/ontology/NANDO_1200426 MONDO:0018554 http://www.w3.org/2004/02/skos/core#exactMatch 肺静脈閉塞症/肺毛細血管腫症 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis https://monarchinitiative.org/MONDO:0018554 NANDO:1200388 http://nanbyodata.jp/ontology/NANDO_1200388 MONDO:0018555 http://www.w3.org/2004/02/skos/core#exactMatch 低ゴナドトロピン性性腺機能低下症 hypogonadotropic hypogonadism https://monarchinitiative.org/MONDO:0018555 NANDO:1200440 http://nanbyodata.jp/ontology/NANDO_1200440 MONDO:0018646 http://www.w3.org/2004/02/skos/core#closeMatch 原発性硬化性胆管炎 sclerosing cholangitis https://monarchinitiative.org/MONDO:0018646 NANDO:1200381 http://nanbyodata.jp/ontology/NANDO_1200381 MONDO:0019165 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性思春期早発症 central precocious puberty https://monarchinitiative.org/MONDO:0019165 NANDO:1200431 http://nanbyodata.jp/ontology/NANDO_1200431 MONDO:0019200 http://www.w3.org/2004/02/skos/core#exactMatch 網膜色素変性症 retinitis pigmentosa https://monarchinitiative.org/MONDO:0019200 NANDO:1200420 http://nanbyodata.jp/ontology/NANDO_1200420 MONDO:0019203 http://www.w3.org/2004/02/skos/core#exactMatch 急性間質性肺炎 acute interstitial pneumonia https://monarchinitiative.org/MONDO:0019203 NANDO:1200415 http://nanbyodata.jp/ontology/NANDO_1200415 MONDO:0019338 http://www.w3.org/2004/02/skos/core#exactMatch サルコイドーシス sarcoidosis https://monarchinitiative.org/MONDO:0019338 NANDO:1200377 http://nanbyodata.jp/ontology/NANDO_1200377 MONDO:0019611 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体性TSH分泌亢進症 TSH-secreting pituitary adenoma https://monarchinitiative.org/MONDO:0019611 NANDO:1200419 http://nanbyodata.jp/ontology/NANDO_1200419 MONDO:0019622 http://www.w3.org/2004/02/skos/core#exactMatch 非特異的間質性肺炎 non-specific interstitial pneumonia https://monarchinitiative.org/MONDO:0019622 NANDO:1200395 http://nanbyodata.jp/ontology/NANDO_1200395 MONDO:0001328 http://www.w3.org/2004/02/skos/core#exactMatch "" thyroid hormone resistance syndrome https://monarchinitiative.org/MONDO:0001328 NANDO:1200446 http://nanbyodata.jp/ontology/NANDO_1200446 MONDO:0005011 http://www.w3.org/2004/02/skos/core#closeMatch "" Crohn disease https://monarchinitiative.org/MONDO:0005011 NANDO:1200444 http://nanbyodata.jp/ontology/NANDO_1200444 MONDO:0005011 http://www.w3.org/2004/02/skos/core#exactMatch "" Crohn disease https://monarchinitiative.org/MONDO:0005011 NANDO:1200449 http://nanbyodata.jp/ontology/NANDO_1200449 MONDO:0005101 http://www.w3.org/2004/02/skos/core#exactMatch "" ulcerative colitis https://monarchinitiative.org/MONDO:0005101 NANDO:1200387 http://nanbyodata.jp/ontology/NANDO_1200387 MONDO:0005152 http://www.w3.org/2004/02/skos/core#exactMatch "" hypopituitarism https://monarchinitiative.org/MONDO:0005152 NANDO:1200456 http://nanbyodata.jp/ontology/NANDO_1200456 MONDO:0005361 http://www.w3.org/2004/02/skos/core#exactMatch "" eosinophilic esophagitis https://monarchinitiative.org/MONDO:0005361 NANDO:1200446 http://nanbyodata.jp/ontology/NANDO_1200446 MONDO:0005532 http://www.w3.org/2004/02/skos/core#exactMatch "" Crohn's colitis https://monarchinitiative.org/MONDO:0005532 NANDO:1200451 http://nanbyodata.jp/ontology/NANDO_1200451 MONDO:0005533 http://www.w3.org/2004/02/skos/core#exactMatch "" distal colitis https://monarchinitiative.org/MONDO:0005533 NANDO:1200447 http://nanbyodata.jp/ontology/NANDO_1200447 MONDO:0005534 http://www.w3.org/2004/02/skos/core#exactMatch "" ileocolitis https://monarchinitiative.org/MONDO:0005534 NANDO:1200450 http://nanbyodata.jp/ontology/NANDO_1200450 MONDO:0005536 http://www.w3.org/2004/02/skos/core#exactMatch "" pancolitis https://monarchinitiative.org/MONDO:0005536 NANDO:1200445 http://nanbyodata.jp/ontology/NANDO_1200445 MONDO:0005539 http://www.w3.org/2004/02/skos/core#exactMatch "" small bowel Crohn disease https://monarchinitiative.org/MONDO:0005539 NANDO:1200372 http://nanbyodata.jp/ontology/NANDO_1200372 MONDO:0005965 http://www.w3.org/2004/02/skos/core#exactMatch "" spinal stenosis https://monarchinitiative.org/MONDO:0005965 NANDO:1200376 http://nanbyodata.jp/ontology/NANDO_1200376 MONDO:0006802 http://www.w3.org/2004/02/skos/core#exactMatch "" inappropriate ADH syndrome https://monarchinitiative.org/MONDO:0006802 NANDO:1200367 http://nanbyodata.jp/ontology/NANDO_1200367 MONDO:0020642 http://www.w3.org/2004/02/skos/core#exactMatch "" polycystic kidney disease https://monarchinitiative.org/MONDO:0020642 NANDO:1200522 http://nanbyodata.jp/ontology/NANDO_1200522 MONDO:0000903 http://www.w3.org/2004/02/skos/core#exactMatch ミオクローヌス・ジストニア症候群 myoclonus-dystonia syndrome https://monarchinitiative.org/MONDO:0000903 NANDO:1200502 http://nanbyodata.jp/ontology/NANDO_1200502 MONDO:0000995 http://www.w3.org/2004/02/skos/core#exactMatch 家族性周期性四肢麻痺 familial periodic paralysis https://monarchinitiative.org/MONDO:0000995 NANDO:1200491 http://nanbyodata.jp/ontology/NANDO_1200491 MONDO:0001347 http://www.w3.org/2004/02/skos/core#exactMatch 顔面肩甲上腕型筋ジストロフィー facioscapulohumeral muscular dystrophy https://monarchinitiative.org/MONDO:0001347 NANDO:1200479 http://nanbyodata.jp/ontology/NANDO_1200479 MONDO:0007294 http://www.w3.org/2004/02/skos/core#exactMatch セントラルコアミオパチー central core myopathy https://monarchinitiative.org/MONDO:0007294 NANDO:1200512 http://nanbyodata.jp/ontology/NANDO_1200512 MONDO:0007492 http://www.w3.org/2004/02/skos/core#exactMatch 早発型全身性四肢発症型ジストニア early-onset generalized limb-onset dystonia https://monarchinitiative.org/MONDO:0007492 NANDO:1200515 http://nanbyodata.jp/ontology/NANDO_1200515 MONDO:0007493 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア4 torsion dystonia 4 https://monarchinitiative.org/MONDO:0007493 NANDO:1200516 http://nanbyodata.jp/ontology/NANDO_1200516 MONDO:0007495 http://www.w3.org/2004/02/skos/core#closeMatch ジストニア5 dystonia 5 https://monarchinitiative.org/MONDO:0007495 NANDO:1200524 http://nanbyodata.jp/ontology/NANDO_1200524 MONDO:0007496 http://www.w3.org/2004/02/skos/core#closeMatch ジストニア12 dystonia 12 https://monarchinitiative.org/MONDO:0007496 NANDO:1200523 http://nanbyodata.jp/ontology/NANDO_1200523 MONDO:0007496 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア12 dystonia 12 https://monarchinitiative.org/MONDO:0007496 NANDO:1200472 http://nanbyodata.jp/ontology/NANDO_1200472 MONDO:0007727 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体顕性家族性周期熱 autosomal dominant familial periodic fever https://monarchinitiative.org/MONDO:0007727 NANDO:1200493 http://nanbyodata.jp/ontology/NANDO_1200493 MONDO:0008116 http://www.w3.org/2004/02/skos/core#exactMatch 眼咽頭筋型筋ジストロフィー oculopharyngeal muscular dystrophy https://monarchinitiative.org/MONDO:0008116 NANDO:1200501 http://nanbyodata.jp/ontology/NANDO_1200501 MONDO:0008195 http://www.w3.org/2004/02/skos/core#exactMatch Von Eulenburg先天性パラミオトニア paramyotonia congenita of Von Eulenburg https://monarchinitiative.org/MONDO:0008195 NANDO:1200503 http://nanbyodata.jp/ontology/NANDO_1200503 MONDO:0008223 http://www.w3.org/2004/02/skos/core#exactMatch 低カリウム性周期性四肢麻痺 hypokalemic periodic paralysis https://monarchinitiative.org/MONDO:0008223 NANDO:1200504 http://nanbyodata.jp/ontology/NANDO_1200504 MONDO:0008224 http://www.w3.org/2004/02/skos/core#exactMatch 高カリウム性周期性四肢麻痺 hyperkalemic periodic paralysis https://monarchinitiative.org/MONDO:0008224 NANDO:1200476 http://nanbyodata.jp/ontology/NANDO_1200476 MONDO:0008523 http://www.w3.org/2004/02/skos/core#exactMatch ブラウ症候群 Blau syndrome https://monarchinitiative.org/MONDO:0008523 NANDO:1200467 http://nanbyodata.jp/ontology/NANDO_1200467 MONDO:0008633 http://www.w3.org/2004/02/skos/core#exactMatch マックル・ウェルズ症候群 Muckle-Wells syndrome https://monarchinitiative.org/MONDO:0008633 NANDO:1200464 http://nanbyodata.jp/ontology/NANDO_1200464 MONDO:0008965 http://www.w3.org/2004/02/skos/core#exactMatch CHARGE症候群 CHARGE syndrome https://monarchinitiative.org/MONDO:0008965 NANDO:1200463 http://nanbyodata.jp/ontology/NANDO_1200463 MONDO:0009026 http://www.w3.org/2004/02/skos/core#exactMatch コステロ症候群 Costello syndrome https://monarchinitiative.org/MONDO:0009026 NANDO:1200513 http://nanbyodata.jp/ontology/NANDO_1200513 MONDO:0009141 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア2 torsion dystonia 2 https://monarchinitiative.org/MONDO:0009141 NANDO:1200534 http://nanbyodata.jp/ontology/NANDO_1200534 MONDO:0009319 http://www.w3.org/2004/02/skos/core#exactMatch パントテン酸キナーゼ関連神経変性症 pantothenate kinase-associated neurodegeneration https://monarchinitiative.org/MONDO:0009319 NANDO:1200485 http://nanbyodata.jp/ontology/NANDO_1200485 MONDO:0009567 http://www.w3.org/2004/02/skos/core#exactMatch マリネスコ・シェーグレン症候群 Marinesco-Sjogren syndrome https://monarchinitiative.org/MONDO:0009567 NANDO:1200494 http://nanbyodata.jp/ontology/NANDO_1200494 MONDO:0009678 http://www.w3.org/2004/02/skos/core#exactMatch 筋ジストロフィー-ジストログリカノパチー(脳および眼の奇形を伴う先天性), A型, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 https://monarchinitiative.org/MONDO:0009678 NANDO:1200498 http://nanbyodata.jp/ontology/NANDO_1200498 MONDO:0009710 http://www.w3.org/2004/02/skos/core#closeMatch トムゼン・ベッカー病 Thomsen and Becker disease https://monarchinitiative.org/MONDO:0009710 NANDO:1200497 http://nanbyodata.jp/ontology/NANDO_1200497 MONDO:0009710 http://www.w3.org/2004/02/skos/core#exactMatch トムゼン・ベッカー病 Thomsen and Becker disease https://monarchinitiative.org/MONDO:0009710 NANDO:1200483 http://nanbyodata.jp/ontology/NANDO_1200483 MONDO:0009711 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋線維不均等症 congenital fiber-type disproportion myopathy https://monarchinitiative.org/MONDO:0009711 NANDO:1200499 http://nanbyodata.jp/ontology/NANDO_1200499 MONDO:0009715 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオトニー, 常染色体潜性 myotonia congenita, autosomal recessive https://monarchinitiative.org/MONDO:0009715 NANDO:1200489 http://nanbyodata.jp/ontology/NANDO_1200489 MONDO:0010311 http://www.w3.org/2004/02/skos/core#exactMatch ベッカー型筋ジストロフィー Becker muscular dystrophy https://monarchinitiative.org/MONDO:0010311 NANDO:1200488 http://nanbyodata.jp/ontology/NANDO_1200488 MONDO:0010679 http://www.w3.org/2004/02/skos/core#exactMatch デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy https://monarchinitiative.org/MONDO:0010679 NANDO:1200514 http://nanbyodata.jp/ontology/NANDO_1200514 MONDO:0010747 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性ジストニア-パーキンソニズム X-linked dystonia-parkinsonism https://monarchinitiative.org/MONDO:0010747 NANDO:1200544 http://nanbyodata.jp/ontology/NANDO_1200544 MONDO:0010829 http://www.w3.org/2004/02/skos/core#exactMatch 禿頭と変形性脊椎症を伴う常染色体劣性白質脳症 CARASIL syndrome https://monarchinitiative.org/MONDO:0010829 NANDO:1200520 http://nanbyodata.jp/ontology/NANDO_1200520 MONDO:0010983 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア9 dystonia 9 https://monarchinitiative.org/MONDO:0010983 NANDO:1200526 http://nanbyodata.jp/ontology/NANDO_1200526 MONDO:0011038 http://www.w3.org/2004/02/skos/core#exactMatch 小脳性運動失調-異常反射-凹足-視神経萎縮-感音性難聴症候群 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome https://monarchinitiative.org/MONDO:0011038 NANDO:1200518 http://nanbyodata.jp/ontology/NANDO_1200518 MONDO:0011200 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア7 torsion dystonia 7 https://monarchinitiative.org/MONDO:0011200 NANDO:1200517 http://nanbyodata.jp/ontology/NANDO_1200517 MONDO:0011264 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア6 torsion dystonia 6 https://monarchinitiative.org/MONDO:0011264 NANDO:1200540 http://nanbyodata.jp/ontology/NANDO_1200540 MONDO:0011426 http://www.w3.org/2004/02/skos/core#closeMatch NBIA4 aceruloplasminemia https://monarchinitiative.org/MONDO:0011426 NANDO:1200469 http://nanbyodata.jp/ontology/NANDO_1200469 MONDO:0011429 http://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎 juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0011429 NANDO:1200468 http://nanbyodata.jp/ontology/NANDO_1200468 MONDO:0011776 http://www.w3.org/2004/02/skos/core#exactMatch 慢性乳児神経皮膚関節症候群 CINCA syndrome https://monarchinitiative.org/MONDO:0011776 NANDO:1200528 http://nanbyodata.jp/ontology/NANDO_1200528 MONDO:0011844 http://www.w3.org/2004/02/skos/core#exactMatch ミオクローヌス・ジストニア15 myoclonic dystonia 15 https://monarchinitiative.org/MONDO:0011844 NANDO:1200527 http://nanbyodata.jp/ontology/NANDO_1200527 MONDO:0011886 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア13 torsion dystonia 13 https://monarchinitiative.org/MONDO:0011886 NANDO:1200532 http://nanbyodata.jp/ontology/NANDO_1200532 MONDO:0012603 http://www.w3.org/2004/02/skos/core#exactMatch DYT19ジストニア episodic kinesigenic dyskinesia 2 https://monarchinitiative.org/MONDO:0012603 NANDO:1200533 http://nanbyodata.jp/ontology/NANDO_1200533 MONDO:0012629 http://www.w3.org/2004/02/skos/core#exactMatch DYT20ジストニア paroxysmal nonkinesigenic dyskinesia 2 https://monarchinitiative.org/MONDO:0012629 NANDO:1200529 http://nanbyodata.jp/ontology/NANDO_1200529 MONDO:0012789 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア16 dystonia 16 https://monarchinitiative.org/MONDO:0012789 NANDO:1200531 http://nanbyodata.jp/ontology/NANDO_1200531 MONDO:0012805 http://www.w3.org/2004/02/skos/core#exactMatch DYT18ジストニア childhood onset GLUT1 deficiency syndrome 2 https://monarchinitiative.org/MONDO:0012805 NANDO:1200541 http://nanbyodata.jp/ontology/NANDO_1200541 MONDO:0012866 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性痙性対麻痺35 hereditary spastic paraplegia 35 https://monarchinitiative.org/MONDO:0012866 NANDO:1200530 http://nanbyodata.jp/ontology/NANDO_1200530 MONDO:0012895 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア17 torsion dystonia 17 https://monarchinitiative.org/MONDO:0012895 NANDO:1200540 http://nanbyodata.jp/ontology/NANDO_1200540 MONDO:0013674 http://www.w3.org/2004/02/skos/core#exactMatch 脳内に鉄沈着を伴う神経変性症4型 neurodegeneration with brain iron accumulation 4 https://monarchinitiative.org/MONDO:0013674 NANDO:1200462 http://nanbyodata.jp/ontology/NANDO_1200462 MONDO:0015280 http://www.w3.org/2004/02/skos/core#exactMatch 心顔面皮膚症候群 cardiofaciocutaneous syndrome https://monarchinitiative.org/MONDO:0015280 NANDO:1200495 http://nanbyodata.jp/ontology/NANDO_1200495 MONDO:0016107 http://www.w3.org/2004/02/skos/core#exactMatch 筋強直性ジストロフィー myotonic dystrophy https://monarchinitiative.org/MONDO:0016107 NANDO:1200487 http://nanbyodata.jp/ontology/NANDO_1200487 MONDO:0016147 http://www.w3.org/2004/02/skos/core#exactMatch ジストロフィン異常症 qualitative or quantitative defects of dystrophin https://monarchinitiative.org/MONDO:0016147 NANDO:1200465 http://nanbyodata.jp/ontology/NANDO_1200465 MONDO:0016168 http://www.w3.org/2004/02/skos/core#exactMatch クリオピリン関連周期熱症候群 cryopyrin-associated periodic syndrome https://monarchinitiative.org/MONDO:0016168 NANDO:1200525 http://nanbyodata.jp/ontology/NANDO_1200525 MONDO:0016241 http://www.w3.org/2004/02/skos/core#exactMatch 小児交互性片麻痺 alternating hemiplegia of childhood https://monarchinitiative.org/MONDO:0016241 NANDO:1200474 http://nanbyodata.jp/ontology/NANDO_1200474 MONDO:0016244 http://www.w3.org/2004/02/skos/core#closeMatch 非典型溶血性尿毒症症候群 atypical hemolytic-uremic syndrome https://monarchinitiative.org/MONDO:0016244 NANDO:1200473 http://nanbyodata.jp/ontology/NANDO_1200473 MONDO:0016244 http://www.w3.org/2004/02/skos/core#exactMatch 非典型溶血性尿毒症症候群 atypical hemolytic-uremic syndrome https://monarchinitiative.org/MONDO:0016244 NANDO:1200535 http://nanbyodata.jp/ontology/NANDO_1200535 MONDO:0016304 http://www.w3.org/2004/02/skos/core#exactMatch パントテン酸キナーゼ変異に伴う神経変性症(古典型) classic pantothenate kinase-associated neurodegeneration https://monarchinitiative.org/MONDO:0016304 NANDO:1200536 http://nanbyodata.jp/ontology/NANDO_1200536 MONDO:0016305 http://www.w3.org/2004/02/skos/core#exactMatch パントテン酸キナーゼ変異に伴う神経変性症(非典型例) atypical pantothenate kinase-associated neurodegeneration https://monarchinitiative.org/MONDO:0016305 NANDO:1200543 http://nanbyodata.jp/ontology/NANDO_1200543 MONDO:0016594 http://www.w3.org/2004/02/skos/core#exactMatch 脳表ヘモジデリン沈着症 superficial siderosis https://monarchinitiative.org/MONDO:0016594 NANDO:1200516 http://nanbyodata.jp/ontology/NANDO_1200516 MONDO:0016812 http://www.w3.org/2004/02/skos/core#exactMatch ドーパ反応性ジストニア dopa-responsive dystonia https://monarchinitiative.org/MONDO:0016812 NANDO:1200492 http://nanbyodata.jp/ontology/NANDO_1200492 MONDO:0016830 http://www.w3.org/2004/02/skos/core#exactMatch エメリー・ドレイフス型筋ジストロフィー Emery-Dreifuss muscular dystrophy https://monarchinitiative.org/MONDO:0016830 NANDO:1200490 http://nanbyodata.jp/ontology/NANDO_1200490 MONDO:0016971 http://www.w3.org/2004/02/skos/core#exactMatch 肢帯型筋ジストロフィー limb-girdle muscular dystrophy https://monarchinitiative.org/MONDO:0016971 NANDO:1200509 http://nanbyodata.jp/ontology/NANDO_1200509 MONDO:0017069 http://www.w3.org/2004/02/skos/core#closeMatch 脊髄髄膜瘤 spina bifida cystica https://monarchinitiative.org/MONDO:0017069 NANDO:1200507 http://nanbyodata.jp/ontology/NANDO_1200507 MONDO:0017987 http://www.w3.org/2004/02/skos/core#closeMatch 脊髄空洞症 syringomyelia https://monarchinitiative.org/MONDO:0017987 NANDO:1200506 http://nanbyodata.jp/ontology/NANDO_1200506 MONDO:0017987 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄空洞症 syringomyelia https://monarchinitiative.org/MONDO:0017987 NANDO:1200541 http://nanbyodata.jp/ontology/NANDO_1200541 MONDO:0017999 http://www.w3.org/2004/02/skos/core#exactMatch FAHN fatty acid hydroxylase-associated neurodegeneration https://monarchinitiative.org/MONDO:0017999 NANDO:1200539 http://nanbyodata.jp/ontology/NANDO_1200539 MONDO:0018307 http://www.w3.org/2004/02/skos/core#closeMatch 脳内に鉄沈着を伴う神経変性症 neurodegeneration with brain iron accumulation https://monarchinitiative.org/MONDO:0018307 NANDO:1200542 http://nanbyodata.jp/ontology/NANDO_1200542 MONDO:0018307 http://www.w3.org/2004/02/skos/core#closeMatch 脳内に鉄沈着を伴う神経変性症 neurodegeneration with brain iron accumulation https://monarchinitiative.org/MONDO:0018307 NANDO:1200466 http://nanbyodata.jp/ontology/NANDO_1200466 MONDO:0018768 http://www.w3.org/2004/02/skos/core#exactMatch 家族性寒冷蕁麻疹 familial cold autoinflammatory syndrome https://monarchinitiative.org/MONDO:0018768 NANDO:1200481 http://nanbyodata.jp/ontology/NANDO_1200481 MONDO:0018947 http://www.w3.org/2004/02/skos/core#closeMatch 中心核ミオパチー centronuclear myopathy https://monarchinitiative.org/MONDO:0018947 NANDO:1200482 http://nanbyodata.jp/ontology/NANDO_1200482 MONDO:0018947 http://www.w3.org/2004/02/skos/core#exactMatch 中心核ミオパチー centronuclear myopathy https://monarchinitiative.org/MONDO:0018947 NANDO:1200480 http://nanbyodata.jp/ontology/NANDO_1200480 MONDO:0018948 http://www.w3.org/2004/02/skos/core#exactMatch ミニコア病 multiminicore myopathy https://monarchinitiative.org/MONDO:0018948 NANDO:1200478 http://nanbyodata.jp/ontology/NANDO_1200478 MONDO:0018958 http://www.w3.org/2004/02/skos/core#exactMatch ネマリンミオパチー nemaline myopathy https://monarchinitiative.org/MONDO:0018958 NANDO:1200500 http://nanbyodata.jp/ontology/NANDO_1200500 MONDO:0018959 http://www.w3.org/2004/02/skos/core#exactMatch カリウム惹起性ミオトニー potassium-aggravated myotonia https://monarchinitiative.org/MONDO:0018959 NANDO:1200461 http://nanbyodata.jp/ontology/NANDO_1200461 MONDO:0019188 http://www.w3.org/2004/02/skos/core#exactMatch ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome https://monarchinitiative.org/MONDO:0019188 NANDO:1200510 http://nanbyodata.jp/ontology/NANDO_1200510 MONDO:0019399 http://www.w3.org/2004/02/skos/core#exactMatch アイザックス症候群 Isaac syndrome https://monarchinitiative.org/MONDO:0019399 NANDO:1200471 http://nanbyodata.jp/ontology/NANDO_1200471 MONDO:0019433 http://www.w3.org/2004/02/skos/core#exactMatch 関節型若年性特発性関節炎 oligoarticular juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019433 NANDO:1200470 http://nanbyodata.jp/ontology/NANDO_1200470 MONDO:0019434 http://www.w3.org/2004/02/skos/core#exactMatch 全身型若年性特発性関節炎 systemic-onset juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019434 NANDO:1200509 http://nanbyodata.jp/ontology/NANDO_1200509 MONDO:0019773 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄髄膜瘤 myelomeningocele https://monarchinitiative.org/MONDO:0019773 NANDO:1200477 http://nanbyodata.jp/ontology/NANDO_1200477 MONDO:0019952 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオパチー congenital myopathy https://monarchinitiative.org/MONDO:0019952 NANDO:1200486 http://nanbyodata.jp/ontology/NANDO_1200486 MONDO:0020121 http://www.w3.org/2004/02/skos/core#exactMatch 筋ジストロフィー muscular dystrophy https://monarchinitiative.org/MONDO:0020121 NANDO:1200537 http://nanbyodata.jp/ontology/NANDO_1200537 MONDO:0024457 http://www.w3.org/2004/02/skos/core#exactMatch 脳内に鉄沈着を伴う神経変性症2A型 neurodegeneration with brain iron accumulation 2A https://monarchinitiative.org/MONDO:0024457 NANDO:1200511 http://nanbyodata.jp/ontology/NANDO_1200511 MONDO:0044807 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性ジストニア inherited dystonia https://monarchinitiative.org/MONDO:0044807 NANDO:1200482 http://nanbyodata.jp/ontology/NANDO_1200482 MONDO:0002921 http://www.w3.org/2004/02/skos/core#closeMatch "" congenital structural myopathy https://monarchinitiative.org/MONDO:0002921 NANDO:1200545 http://nanbyodata.jp/ontology/NANDO_1200545 MONDO:0007432 http://www.w3.org/2004/02/skos/core#exactMatch "" cerebral arteriopathy with subcortical infarcts and leukoencephalopathy https://monarchinitiative.org/MONDO:0007432 NANDO:1200607 http://nanbyodata.jp/ontology/NANDO_1200607 MONDO:0001734 http://www.w3.org/2004/02/skos/core#exactMatch 結節性硬化症 tuberous sclerosis https://monarchinitiative.org/MONDO:0001734 NANDO:1200613 http://nanbyodata.jp/ontology/NANDO_1200613 MONDO:0007813 http://www.w3.org/2004/02/skos/core#exactMatch 表在性表皮融解性魚鱗癬 superficial epidermolytic ichthyosis https://monarchinitiative.org/MONDO:0007813 NANDO:1200559 http://nanbyodata.jp/ontology/NANDO_1200559 MONDO:0008006 http://www.w3.org/2004/02/skos/core#exactMatch メビウス症候群 Mobius syndrome https://monarchinitiative.org/MONDO:0008006 NANDO:1200547 http://nanbyodata.jp/ontology/NANDO_1200547 MONDO:0008201 http://www.w3.org/2004/02/skos/core#exactMatch ペリー症候群 Perry syndrome https://monarchinitiative.org/MONDO:0008201 NANDO:1200631 http://nanbyodata.jp/ontology/NANDO_1200631 MONDO:0008218 http://www.w3.org/2004/02/skos/core#exactMatch ヘイリー・ヘイリー病 Hailey-Hailey disease https://monarchinitiative.org/MONDO:0008218 NANDO:1200560 http://nanbyodata.jp/ontology/NANDO_1200560 MONDO:0008428 http://www.w3.org/2004/02/skos/core#closeMatch 中隔視神経形成異常症 septooptic dysplasia https://monarchinitiative.org/MONDO:0008428 NANDO:1200606 http://nanbyodata.jp/ontology/NANDO_1200606 MONDO:0008501 http://www.w3.org/2004/02/skos/core#exactMatch スタージ・ウェーバー症候群 Sturge-Weber syndrome https://monarchinitiative.org/MONDO:0008501 NANDO:1200558 http://nanbyodata.jp/ontology/NANDO_1200558 MONDO:0008503 http://www.w3.org/2004/02/skos/core#exactMatch 先天性核上性球麻痺 Worster-Drought syndrome https://monarchinitiative.org/MONDO:0008503 NANDO:1200554 http://nanbyodata.jp/ontology/NANDO_1200554 MONDO:0008752 http://www.w3.org/2004/02/skos/core#exactMatch アレキサンダー病 Alexander disease https://monarchinitiative.org/MONDO:0008752 NANDO:1200614 http://nanbyodata.jp/ontology/NANDO_1200614 MONDO:0009443 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性先天性魚鱗癬4B autosomal recessive congenital ichthyosis 4B https://monarchinitiative.org/MONDO:0009443 NANDO:1200602 http://nanbyodata.jp/ontology/NANDO_1200602 MONDO:0009509 http://www.w3.org/2004/02/skos/core#exactMatch ランドウ・クレフナー症候群 Landau-Kleffner syndrome https://monarchinitiative.org/MONDO:0009509 NANDO:1200553 http://nanbyodata.jp/ontology/NANDO_1200553 MONDO:0009746 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性感覚・自律神経性ニューロパチー4型 hereditary sensory and autonomic neuropathy type 4 https://monarchinitiative.org/MONDO:0009746 NANDO:1200620 http://nanbyodata.jp/ontology/NANDO_1200620 MONDO:0010031 http://www.w3.org/2004/02/skos/core#exactMatch シェーグレン・ラルソン症候群 Sjogren-Larsson syndrome https://monarchinitiative.org/MONDO:0010031 NANDO:1200623 http://nanbyodata.jp/ontology/NANDO_1200623 MONDO:0010155 http://www.w3.org/2004/02/skos/core#closeMatch ドルフマン・シャナリン症候群 Dorfman-Chanarin disease https://monarchinitiative.org/MONDO:0010155 NANDO:1200622 http://nanbyodata.jp/ontology/NANDO_1200622 MONDO:0010155 http://www.w3.org/2004/02/skos/core#exactMatch ドルフマン・シャナリン症候群 Dorfman-Chanarin disease https://monarchinitiative.org/MONDO:0010155 NANDO:1200599 http://nanbyodata.jp/ontology/NANDO_1200599 MONDO:0010246 http://www.w3.org/2004/02/skos/core#exactMatch 発達性およびてんかん性脳症9 developmental and epileptic encephalopathy, 9 https://monarchinitiative.org/MONDO:0010246 NANDO:1200580 http://nanbyodata.jp/ontology/NANDO_1200580 MONDO:0010354 http://www.w3.org/2004/02/skos/core#exactMatch アラン・ハーンドン・タドリー症候群 Allan-Herndon-Dudley syndrome https://monarchinitiative.org/MONDO:0010354 NANDO:1200562 http://nanbyodata.jp/ontology/NANDO_1200562 MONDO:0010568 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ症候群 Aicardi syndrome https://monarchinitiative.org/MONDO:0010568 NANDO:1200625 http://nanbyodata.jp/ontology/NANDO_1200625 MONDO:0010622 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性潜性魚鱗癬 recessive X-linked ichthyosis https://monarchinitiative.org/MONDO:0010622 NANDO:1200576 http://nanbyodata.jp/ontology/NANDO_1200576 MONDO:0010714 http://www.w3.org/2004/02/skos/core#exactMatch ペリツェウス・メルツバッハ スペクトラム病 Pelizeaus-Merzbacher spectrum disorder https://monarchinitiative.org/MONDO:0010714 NANDO:1200604 http://nanbyodata.jp/ontology/NANDO_1200604 MONDO:0010726 http://www.w3.org/2004/02/skos/core#closeMatch レット症候群 Rett syndrome https://monarchinitiative.org/MONDO:0010726 NANDO:1200603 http://nanbyodata.jp/ontology/NANDO_1200603 MONDO:0010726 http://www.w3.org/2004/02/skos/core#exactMatch レット症候群 Rett syndrome https://monarchinitiative.org/MONDO:0010726 NANDO:1200550 http://nanbyodata.jp/ontology/NANDO_1200550 MONDO:0010857 http://www.w3.org/2004/02/skos/core#exactMatch 意味性認知症 semantic dementia https://monarchinitiative.org/MONDO:0010857 NANDO:1200579 http://nanbyodata.jp/ontology/NANDO_1200579 MONDO:0011147 http://www.w3.org/2004/02/skos/core#exactMatch 18q欠失症候群 chromosome 18q deletion syndrome https://monarchinitiative.org/MONDO:0011147 NANDO:1200582 http://nanbyodata.jp/ontology/NANDO_1200582 MONDO:0011449 http://www.w3.org/2004/02/skos/core#exactMatch サラ病 Salla disease https://monarchinitiative.org/MONDO:0011449 NANDO:1200585 http://nanbyodata.jp/ontology/NANDO_1200585 MONDO:0011897 http://www.w3.org/2004/02/skos/core#exactMatch 白質脳症-運動失調-無歯症-を伴う髄鞘形成不全症候群 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome https://monarchinitiative.org/MONDO:0011897 NANDO:1200586 http://nanbyodata.jp/ontology/NANDO_1200586 MONDO:0012198 http://www.w3.org/2004/02/skos/core#exactMatch PCWH症候群 PCWH syndrome https://monarchinitiative.org/MONDO:0012198 NANDO:1200584 http://nanbyodata.jp/ontology/NANDO_1200584 MONDO:0012514 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー5 hypomyelinating leukodystrophy 5 https://monarchinitiative.org/MONDO:0012514 NANDO:1200581 http://nanbyodata.jp/ontology/NANDO_1200581 MONDO:0012824 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー4 hypomyelinating leukodystrophy 4 https://monarchinitiative.org/MONDO:0012824 NANDO:1200578 http://nanbyodata.jp/ontology/NANDO_1200578 MONDO:0012905 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー6 hypomyelinating leukodystrophy 6 https://monarchinitiative.org/MONDO:0012905 NANDO:1200597 http://nanbyodata.jp/ontology/NANDO_1200597 MONDO:0015436 http://www.w3.org/2004/02/skos/core#exactMatch 環状20番染色体 ring chromosome 20 https://monarchinitiative.org/MONDO:0015436 NANDO:1200600 http://nanbyodata.jp/ontology/NANDO_1200600 MONDO:0015584 http://www.w3.org/2004/02/skos/core#exactMatch 難治頻回部分発作重積型急性脳炎 febrile infection-related epilepsy syndrome https://monarchinitiative.org/MONDO:0015584 NANDO:1200622 http://nanbyodata.jp/ontology/NANDO_1200622 MONDO:0015611 http://www.w3.org/2004/02/skos/core#closeMatch ドルフマン・シャナリン症候群 neutral lipid storage disease https://monarchinitiative.org/MONDO:0015611 NANDO:1200609 http://nanbyodata.jp/ontology/NANDO_1200609 MONDO:0015947 http://www.w3.org/2004/02/skos/core#exactMatch 先天性魚鱗癬 inherited ichthyosis https://monarchinitiative.org/MONDO:0015947 NANDO:1200598 http://nanbyodata.jp/ontology/NANDO_1200598 MONDO:0016019 http://www.w3.org/2004/02/skos/core#exactMatch ラスムッセン脳炎 Rasmussen subacute encephalitis https://monarchinitiative.org/MONDO:0016019 NANDO:1200591 http://nanbyodata.jp/ontology/NANDO_1200591 MONDO:0016532 http://www.w3.org/2004/02/skos/core#exactMatch レノックス・ガストー症候群 Lennox-Gastaut syndrome https://monarchinitiative.org/MONDO:0016532 NANDO:1200565 http://nanbyodata.jp/ontology/NANDO_1200565 MONDO:0017096 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ia型 isolated focal cortical dysplasia type Ia https://monarchinitiative.org/MONDO:0017096 NANDO:1200566 http://nanbyodata.jp/ontology/NANDO_1200566 MONDO:0017097 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ib型 isolated focal cortical dysplasia type Ib https://monarchinitiative.org/MONDO:0017097 NANDO:1200567 http://nanbyodata.jp/ontology/NANDO_1200567 MONDO:0017098 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ic型 isolated focal cortical dysplasia type Ic https://monarchinitiative.org/MONDO:0017098 NANDO:1200568 http://nanbyodata.jp/ontology/NANDO_1200568 MONDO:0017101 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成IIa型 isolated focal cortical dysplasia type IIa https://monarchinitiative.org/MONDO:0017101 NANDO:1200569 http://nanbyodata.jp/ontology/NANDO_1200569 MONDO:0017102 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成IIb型 isolated focal cortical dysplasia type IIb https://monarchinitiative.org/MONDO:0017102 NANDO:1200549 http://nanbyodata.jp/ontology/NANDO_1200549 MONDO:0017160 http://www.w3.org/2004/02/skos/core#exactMatch (行動異常型)前頭側頭型認知症 behavioral variant of frontotemporal dementia https://monarchinitiative.org/MONDO:0017160 NANDO:1200577 http://nanbyodata.jp/ontology/NANDO_1200577 MONDO:0017226 http://www.w3.org/2004/02/skos/core#exactMatch ペリツェウス・メルツバッハ様病1 Pelizaeus-Merzbacher-like disease https://monarchinitiative.org/MONDO:0017226 NANDO:1200615 http://nanbyodata.jp/ontology/NANDO_1200615 MONDO:0017265 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性先天性魚鱗癬 autosomal recessive congenital ichthyosis https://monarchinitiative.org/MONDO:0017265 NANDO:1200610 http://nanbyodata.jp/ontology/NANDO_1200610 MONDO:0017266 http://www.w3.org/2004/02/skos/core#exactMatch ケラチン症性魚鱗癬 keratinopathic ichthyosis https://monarchinitiative.org/MONDO:0017266 NANDO:1200548 http://nanbyodata.jp/ontology/NANDO_1200548 MONDO:0017276 http://www.w3.org/2004/02/skos/core#exactMatch 前頭側頭葉変性症 frontotemporal dementia https://monarchinitiative.org/MONDO:0017276 NANDO:1200595 http://nanbyodata.jp/ontology/NANDO_1200595 MONDO:0017385 http://www.w3.org/2004/02/skos/core#exactMatch 遊走性焦点発作を伴う乳児てんかん malignant migrating partial seizures of infancy https://monarchinitiative.org/MONDO:0017385 NANDO:1200605 http://nanbyodata.jp/ontology/NANDO_1200605 MONDO:0017746 http://www.w3.org/2004/02/skos/core#exactMatch 非典型的レット症候群 atypical Rett syndrome https://monarchinitiative.org/MONDO:0017746 NANDO:1200617 http://nanbyodata.jp/ontology/NANDO_1200617 MONDO:0017778 http://www.w3.org/2004/02/skos/core#exactMatch 葉状魚鱗癬 lamellar ichthyosis https://monarchinitiative.org/MONDO:0017778 NANDO:1200627 http://nanbyodata.jp/ontology/NANDO_1200627 MONDO:0018053 http://www.w3.org/2004/02/skos/core#exactMatch 硫黄欠乏性毛髪発育異常症 trichothiodystrophy https://monarchinitiative.org/MONDO:0018053 NANDO:1200592 http://nanbyodata.jp/ontology/NANDO_1200592 MONDO:0018097 http://www.w3.org/2004/02/skos/core#exactMatch ウエスト症候群 West syndrome https://monarchinitiative.org/MONDO:0018097 NANDO:1200552 http://nanbyodata.jp/ontology/NANDO_1200552 MONDO:0018198 http://www.w3.org/2004/02/skos/core#exactMatch 痙攣重積型(二相性)急性脳症 acute encephalopathy with biphasic seizures and late reduced diffusion https://monarchinitiative.org/MONDO:0018198 NANDO:1200555 http://nanbyodata.jp/ontology/NANDO_1200555 MONDO:0018209 http://www.w3.org/2004/02/skos/core#exactMatch 大脳優位型アレキサンダー病 Alexander disease type I https://monarchinitiative.org/MONDO:0018209 NANDO:1200556 http://nanbyodata.jp/ontology/NANDO_1200556 MONDO:0018210 http://www.w3.org/2004/02/skos/core#exactMatch 延髄・脊髄優位型アレキサンダー病 Alexander disease type II https://monarchinitiative.org/MONDO:0018210 NANDO:1200583 http://nanbyodata.jp/ontology/NANDO_1200583 MONDO:0018655 http://www.w3.org/2004/02/skos/core#exactMatch 小脳萎縮と脳梁低形成を伴うび漫性大脳白質形成不全症 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome https://monarchinitiative.org/MONDO:0018655 NANDO:1200634 http://nanbyodata.jp/ontology/NANDO_1200634 MONDO:0018746 http://www.w3.org/2004/02/skos/core#exactMatch 粘膜類天疱瘡 mucous membrane pemphigoid https://monarchinitiative.org/MONDO:0018746 NANDO:1200621 http://nanbyodata.jp/ontology/NANDO_1200621 MONDO:0018781 http://www.w3.org/2004/02/skos/core#exactMatch KID症候群 KID syndrome https://monarchinitiative.org/MONDO:0018781 NANDO:1200574 http://nanbyodata.jp/ontology/NANDO_1200574 MONDO:0018838 http://www.w3.org/2004/02/skos/core#exactMatch 滑脳症スペクトラム障害 lissencephaly spectrum disorders https://monarchinitiative.org/MONDO:0018838 NANDO:1200564 http://nanbyodata.jp/ontology/NANDO_1200564 MONDO:0019009 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成 isolated focal cortical dysplasia https://monarchinitiative.org/MONDO:0019009 NANDO:1200575 http://nanbyodata.jp/ontology/NANDO_1200575 MONDO:0019046 http://www.w3.org/2004/02/skos/core#exactMatch 先天性大脳白質形成不全症 leukodystrophy https://monarchinitiative.org/MONDO:0019046 NANDO:1200632 http://nanbyodata.jp/ontology/NANDO_1200632 MONDO:0019082 http://www.w3.org/2004/02/skos/core#closeMatch 類天疱瘡 bullous pemphigoid https://monarchinitiative.org/MONDO:0019082 NANDO:1200633 http://nanbyodata.jp/ontology/NANDO_1200633 MONDO:0019082 http://www.w3.org/2004/02/skos/core#exactMatch 類天疱瘡 bullous pemphigoid https://monarchinitiative.org/MONDO:0019082 NANDO:1200551 http://nanbyodata.jp/ontology/NANDO_1200551 MONDO:0019208 http://www.w3.org/2004/02/skos/core#exactMatch ビッカースタッフ脳幹脳炎 Bickerstaff brainstem encephalitis https://monarchinitiative.org/MONDO:0019208 NANDO:1200618 http://nanbyodata.jp/ontology/NANDO_1200618 MONDO:0019269 http://www.w3.org/2004/02/skos/core#exactMatch 魚鱗癬症候群 ichthyosis https://monarchinitiative.org/MONDO:0019269 NANDO:1200617 http://nanbyodata.jp/ontology/NANDO_1200617 MONDO:0019306 http://www.w3.org/2004/02/skos/core#closeMatch 先天性魚鱗癬様紅皮症 congenital non-bullous ichthyosiform erythroderma https://monarchinitiative.org/MONDO:0019306 NANDO:1200616 http://nanbyodata.jp/ontology/NANDO_1200616 MONDO:0019306 http://www.w3.org/2004/02/skos/core#exactMatch 先天性魚鱗癬様紅皮症 congenital non-bullous ichthyosiform erythroderma https://monarchinitiative.org/MONDO:0019306 NANDO:1200596 http://nanbyodata.jp/ontology/NANDO_1200596 MONDO:0019485 http://www.w3.org/2004/02/skos/core#exactMatch 片側痙攣・片麻痺・てんかん症候群 idiopathic hemiconvulsion-hemiplegia syndrome https://monarchinitiative.org/MONDO:0019485 NANDO:1200589 http://nanbyodata.jp/ontology/NANDO_1200589 MONDO:0019487 http://www.w3.org/2004/02/skos/core#exactMatch ミオクロニー欠神てんかん epilepsy with myoclonic absences https://monarchinitiative.org/MONDO:0019487 NANDO:1200608 http://nanbyodata.jp/ontology/NANDO_1200608 MONDO:0019600 http://www.w3.org/2004/02/skos/core#exactMatch 色素性乾皮症 xeroderma pigmentosum https://monarchinitiative.org/MONDO:0019600 NANDO:1200588 http://nanbyodata.jp/ontology/NANDO_1200588 MONDO:0020476 http://www.w3.org/2004/02/skos/core#exactMatch 海馬硬化を伴う内側側頭葉てんかん mesial temporal lobe epilepsy with hippocampal sclerosis https://monarchinitiative.org/MONDO:0020476 NANDO:1200563 http://nanbyodata.jp/ontology/NANDO_1200563 MONDO:0020492 http://www.w3.org/2004/02/skos/core#exactMatch 片側巨脳症 hemimegalencephaly https://monarchinitiative.org/MONDO:0020492 NANDO:1200630 http://nanbyodata.jp/ontology/NANDO_1200630 MONDO:0020603 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性点状軟骨異形成症2型 X-linked chondrodysplasia punctata 2 https://monarchinitiative.org/MONDO:0020603 NANDO:1200611 http://nanbyodata.jp/ontology/NANDO_1200611 MONDO:0020702 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体優性表皮融解性魚鱗癬 autosomal dominant epidermolytic ichthyosis https://monarchinitiative.org/MONDO:0020702 NANDO:1200612 http://nanbyodata.jp/ontology/NANDO_1200612 MONDO:0044742 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体劣性表皮融解性魚鱗癬 autosomal recessive epidermolytic ichthyosis https://monarchinitiative.org/MONDO:0044742 NANDO:1200593 http://nanbyodata.jp/ontology/NANDO_1200593 MONDO:0100062 http://www.w3.org/2004/02/skos/core#exactMatch 発達性およびてんかん性脳症 developmental and epileptic encephalopathy https://monarchinitiative.org/MONDO:0100062 NANDO:1200626 http://nanbyodata.jp/ontology/NANDO_1200626 MONDO:0002470 http://www.w3.org/2004/02/skos/core#exactMatch "" photosensitive trichothiodystrophy https://monarchinitiative.org/MONDO:0002470 NANDO:1200628 http://nanbyodata.jp/ontology/NANDO_1200628 MONDO:0043094 http://www.w3.org/2004/02/skos/core#exactMatch "" ichthyosis, follicular https://monarchinitiative.org/MONDO:0043094 NANDO:1200595 http://nanbyodata.jp/ontology/NANDO_1200595 MONDO:0100025 http://www.w3.org/2004/02/skos/core#closeMatch "" epilepsy of infancy with migrating focal seizures https://monarchinitiative.org/MONDO:0100025 NANDO:1200587 http://nanbyodata.jp/ontology/NANDO_1200587 MONDO:0100135 http://www.w3.org/2004/02/skos/core#exactMatch "" Dravet syndrome https://monarchinitiative.org/MONDO:0100135 NANDO:1200688 http://nanbyodata.jp/ontology/NANDO_1200688 MONDO:0008564 http://www.w3.org/2004/02/skos/core#closeMatch ディジョージ症候群 DiGeorge syndrome https://monarchinitiative.org/MONDO:0008564 NANDO:1200688 http://nanbyodata.jp/ontology/NANDO_1200688 MONDO:0008644 http://www.w3.org/2004/02/skos/core#closeMatch 口蓋帆・心臓・顔症候群 velocardiofacial syndrome https://monarchinitiative.org/MONDO:0008644 NANDO:1200690 http://nanbyodata.jp/ontology/NANDO_1200690 MONDO:0010382 http://www.w3.org/2004/02/skos/core#closeMatch 脆弱X関連振戦運動失調症候群 fragile X-associated tremor/ataxia syndrome https://monarchinitiative.org/MONDO:0010382 NANDO:1200649 http://nanbyodata.jp/ontology/NANDO_1200649 MONDO:0016002 http://www.w3.org/2004/02/skos/core#closeMatch エーラス・ダンロス症候群, 後側彎型1 Ehlers-Danlos syndrome, kyphoscoliotic type 1 https://monarchinitiative.org/MONDO:0016002 NANDO:1200701 http://nanbyodata.jp/ontology/NANDO_1200701 MONDO:0016301 http://www.w3.org/2004/02/skos/core#closeMatch 完全大血管転位症 congenitally corrected transposition of the great arteries https://monarchinitiative.org/MONDO:0016301 NANDO:1200701 http://nanbyodata.jp/ontology/NANDO_1200701 MONDO:0016303 http://www.w3.org/2004/02/skos/core#closeMatch 完全大血管転位症II型 congenitally uncorrected transposition of the great arteries with cardiac malformation https://monarchinitiative.org/MONDO:0016303 NANDO:1200640 http://nanbyodata.jp/ontology/NANDO_1200640 MONDO:0018306 http://www.w3.org/2004/02/skos/core#exactMatch グリセリ症候群 Griscelli syndrome https://monarchinitiative.org/MONDO:0018306 NANDO:1200635 http://nanbyodata.jp/ontology/NANDO_1200635 MONDO:0018747 http://www.w3.org/2004/02/skos/core#exactMatch 後天性表皮水疱症 acquired epidermolysis bullosa https://monarchinitiative.org/MONDO:0018747 NANDO:1200675 http://nanbyodata.jp/ontology/NANDO_1200675 MONDO:0018878 http://www.w3.org/2004/02/skos/core#closeMatch 鰓耳症候群 branchiootic syndrome https://monarchinitiative.org/MONDO:0018878 NANDO:1200641 http://nanbyodata.jp/ontology/NANDO_1200641 MONDO:0018910 http://www.w3.org/2004/02/skos/core#closeMatch 眼皮膚白皮症 oculocutaneous albinism https://monarchinitiative.org/MONDO:0018910 NANDO:1200637 http://nanbyodata.jp/ontology/NANDO_1200637 MONDO:0018910 http://www.w3.org/2004/02/skos/core#exactMatch 眼皮膚白皮症 oculocutaneous albinism https://monarchinitiative.org/MONDO:0018910 NANDO:1200638 http://nanbyodata.jp/ontology/NANDO_1200638 MONDO:0019312 http://www.w3.org/2004/02/skos/core#exactMatch ヘルマンスキー・パドラック症候群 Hermansky-Pudlak syndrome https://monarchinitiative.org/MONDO:0019312 NANDO:1200714 http://nanbyodata.jp/ontology/NANDO_1200714 MONDO:0001645 http://www.w3.org/2004/02/skos/core#closeMatch "" crescentic glomerulonephritis https://monarchinitiative.org/MONDO:0001645 NANDO:1200668 http://nanbyodata.jp/ontology/NANDO_1200668 MONDO:0005810 http://www.w3.org/2004/02/skos/core#closeMatch "" infectious mononucleosis https://monarchinitiative.org/MONDO:0005810 NANDO:1200705 http://nanbyodata.jp/ontology/NANDO_1200705 MONDO:0004933 http://www.w3.org/2004/02/skos/core#exactMatch 左心低形成症候群 hypoplastic left heart syndrome https://monarchinitiative.org/MONDO:0004933 NANDO:1200675 http://nanbyodata.jp/ontology/NANDO_1200675 MONDO:0007029 http://www.w3.org/2004/02/skos/core#exactMatch 鰓耳腎症候群 branchio-oto-renal syndrome https://monarchinitiative.org/MONDO:0007029 NANDO:1200667 http://nanbyodata.jp/ontology/NANDO_1200667 MONDO:0007041 http://www.w3.org/2004/02/skos/core#exactMatch アペール症候群 Apert syndrome https://monarchinitiative.org/MONDO:0007041 NANDO:1200668 http://nanbyodata.jp/ontology/NANDO_1200668 MONDO:0007043 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群 Pfeiffer syndrome https://monarchinitiative.org/MONDO:0007043 NANDO:1200686 http://nanbyodata.jp/ontology/NANDO_1200686 MONDO:0007113 http://www.w3.org/2004/02/skos/core#exactMatch アンジェルマン症候群 Angelman syndrome https://monarchinitiative.org/MONDO:0007113 NANDO:1200684 http://nanbyodata.jp/ontology/NANDO_1200684 MONDO:0007404 http://www.w3.org/2004/02/skos/core#exactMatch ネコ鳴き症候群 Cri-du-chat syndrome https://monarchinitiative.org/MONDO:0007404 NANDO:1200666 http://nanbyodata.jp/ontology/NANDO_1200666 MONDO:0007405 http://www.w3.org/2004/02/skos/core#exactMatch クルーゾン症候群 Crouzon syndrome https://monarchinitiative.org/MONDO:0007405 NANDO:1200646 http://nanbyodata.jp/ontology/NANDO_1200646 MONDO:0007522 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 古典型 Ehlers-Danlos syndrome, classic type https://monarchinitiative.org/MONDO:0007522 NANDO:1200647 http://nanbyodata.jp/ontology/NANDO_1200647 MONDO:0007523 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 関節過可動型 Ehlers-Danlos syndrome, hypermobility type https://monarchinitiative.org/MONDO:0007523 NANDO:1200650 http://nanbyodata.jp/ontology/NANDO_1200650 MONDO:0007525 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 多発関節弛緩型 Ehlers-Danlos syndrome, arthrochalasia type https://monarchinitiative.org/MONDO:0007525 NANDO:1200644 http://nanbyodata.jp/ontology/NANDO_1200644 MONDO:0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome https://monarchinitiative.org/MONDO:0007947 NANDO:1200678 http://nanbyodata.jp/ontology/NANDO_1200678 MONDO:0008300 http://www.w3.org/2004/02/skos/core#exactMatch プラダー・ウィリ症候群 Prader-Willi syndrome https://monarchinitiative.org/MONDO:0008300 NANDO:1200708 http://nanbyodata.jp/ontology/NANDO_1200708 MONDO:0008343 http://www.w3.org/2004/02/skos/core#exactMatch 心室中隔欠損を伴う肺動脈閉鎖症 pulmonary atresia with ventricular septal defect https://monarchinitiative.org/MONDO:0008343 NANDO:1200687 http://nanbyodata.jp/ontology/NANDO_1200687 MONDO:0008434 http://www.w3.org/2004/02/skos/core#exactMatch スミス・マゲニス症候群 Smith-Magenis syndrome https://monarchinitiative.org/MONDO:0008434 NANDO:1200709 http://nanbyodata.jp/ontology/NANDO_1200709 MONDO:0008542 http://www.w3.org/2004/02/skos/core#exactMatch ファロー四徴症 tetralogy of fallot https://monarchinitiative.org/MONDO:0008542 NANDO:1200657 http://nanbyodata.jp/ontology/NANDO_1200657 MONDO:0008642 http://www.w3.org/2004/02/skos/core#exactMatch VATER/VATER連合 VACTERL/vater association https://monarchinitiative.org/MONDO:0008642 NANDO:1200664 http://nanbyodata.jp/ontology/NANDO_1200664 MONDO:0008678 http://www.w3.org/2004/02/skos/core#exactMatch ウィリアムズ症候群 Williams syndrome https://monarchinitiative.org/MONDO:0008678 NANDO:1200683 http://nanbyodata.jp/ontology/NANDO_1200683 MONDO:0008684 http://www.w3.org/2004/02/skos/core#exactMatch ウォルフ・ヒルシュホーン症候群 Wolf-Hirschhorn syndrome https://monarchinitiative.org/MONDO:0008684 NANDO:1200669 http://nanbyodata.jp/ontology/NANDO_1200669 MONDO:0008803 http://www.w3.org/2004/02/skos/core#exactMatch アントレー・ビクスラー症候群 Antley-Bixler syndrome https://monarchinitiative.org/MONDO:0008803 NANDO:1200658 http://nanbyodata.jp/ontology/NANDO_1200658 MONDO:0009092 http://www.w3.org/2004/02/skos/core#exactMatch 硬化性白質脳症を伴う多発囊胞性脂肪膜性骨異形成症 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly https://monarchinitiative.org/MONDO:0009092 NANDO:1200711 http://nanbyodata.jp/ontology/NANDO_1200711 MONDO:0009144 http://www.w3.org/2004/02/skos/core#exactMatch エプスタイン病 Ebstein anomaly https://monarchinitiative.org/MONDO:0009144 NANDO:1200651 http://nanbyodata.jp/ontology/NANDO_1200651 MONDO:0009161 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 皮膚脆弱型 Ehlers-Danlos syndrome, dermatosparaxis type https://monarchinitiative.org/MONDO:0009161 NANDO:1200663 http://nanbyodata.jp/ontology/NANDO_1200663 MONDO:0009341 http://www.w3.org/2004/02/skos/core#exactMatch モワット・ウィルソン症候群 Mowat-Wilson syndrome https://monarchinitiative.org/MONDO:0009341 NANDO:1200662 http://nanbyodata.jp/ontology/NANDO_1200662 MONDO:0009480 http://www.w3.org/2004/02/skos/core#exactMatch 眼腎障害を伴うジュベール症候群 Joubert syndrome with oculorenal defect https://monarchinitiative.org/MONDO:0009480 NANDO:1200713 http://nanbyodata.jp/ontology/NANDO_1200713 MONDO:0009627 http://www.w3.org/2004/02/skos/core#exactMatch ギャロウェイ・モワト症候群 Galloway-Mowat syndrome https://monarchinitiative.org/MONDO:0009627 NANDO:1200707 http://nanbyodata.jp/ontology/NANDO_1200707 MONDO:0009931 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈閉鎖症-心室中隔欠損を伴わない pulmonary atresia-intact ventricular septum syndrome https://monarchinitiative.org/MONDO:0009931 NANDO:1200671 http://nanbyodata.jp/ontology/NANDO_1200671 MONDO:0010002 http://www.w3.org/2004/02/skos/core#exactMatch ロスムンド・トムソン症候群 Rothmund-Thomson syndrome https://monarchinitiative.org/MONDO:0010002 NANDO:1200659 http://nanbyodata.jp/ontology/NANDO_1200659 MONDO:0010193 http://www.w3.org/2004/02/skos/core#exactMatch ウィーバー症候群 Weaver syndrome https://monarchinitiative.org/MONDO:0010193 NANDO:1200676 http://nanbyodata.jp/ontology/NANDO_1200676 MONDO:0010196 http://www.w3.org/2004/02/skos/core#exactMatch ウェルナー症候群 Werner syndrome https://monarchinitiative.org/MONDO:0010196 NANDO:1200655 http://nanbyodata.jp/ontology/NANDO_1200655 MONDO:0010200 http://www.w3.org/2004/02/skos/core#exactMatch ウィルソン病 Wilson disease https://monarchinitiative.org/MONDO:0010200 NANDO:1200691 http://nanbyodata.jp/ontology/NANDO_1200691 MONDO:0010382 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱X関連振戦運動失調症候群 fragile X-associated tremor/ataxia syndrome https://monarchinitiative.org/MONDO:0010382 NANDO:1200692 http://nanbyodata.jp/ontology/NANDO_1200692 MONDO:0010383 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱X症候群 fragile X syndrome https://monarchinitiative.org/MONDO:0010383 NANDO:1200665 http://nanbyodata.jp/ontology/NANDO_1200665 MONDO:0010519 http://www.w3.org/2004/02/skos/core#exactMatch αサラセミア-X連鎖性知的障害症候群 alpha thalassemia-X-linked intellectual disability syndrome https://monarchinitiative.org/MONDO:0010519 NANDO:1200660 http://nanbyodata.jp/ontology/NANDO_1200660 MONDO:0010561 http://www.w3.org/2004/02/skos/core#exactMatch コフィン・ローリー症候群 Coffin-Lowry syndrome https://monarchinitiative.org/MONDO:0010561 NANDO:1200654 http://nanbyodata.jp/ontology/NANDO_1200654 MONDO:0010572 http://www.w3.org/2004/02/skos/core#exactMatch オクシピタル・ホーン症候群 occipital horn syndrome https://monarchinitiative.org/MONDO:0010572 NANDO:1200653 http://nanbyodata.jp/ontology/NANDO_1200653 MONDO:0010651 http://www.w3.org/2004/02/skos/core#exactMatch メンケス病 Menkes disease https://monarchinitiative.org/MONDO:0010651 NANDO:1200681 http://nanbyodata.jp/ontology/NANDO_1200681 MONDO:0011365 http://www.w3.org/2004/02/skos/core#exactMatch 眼瞼縮小-知的障害症候群, SBBYS型 blepharophimosis - intellectual disability syndrome, SBBYS type https://monarchinitiative.org/MONDO:0011365 NANDO:1200706 http://nanbyodata.jp/ontology/NANDO_1200706 MONDO:0011514 http://www.w3.org/2004/02/skos/core#exactMatch 三尖弁閉鎖症 tricuspid atresia https://monarchinitiative.org/MONDO:0011514 NANDO:1200682 http://nanbyodata.jp/ontology/NANDO_1200682 MONDO:0011929 http://www.w3.org/2004/02/skos/core#exactMatch 1p36欠失症候群 chromosome 1p36 deletion syndrome https://monarchinitiative.org/MONDO:0011929 NANDO:1200685 http://nanbyodata.jp/ontology/NANDO_1200685 MONDO:0011975 http://www.w3.org/2004/02/skos/core#exactMatch 第14番染色体父性片親性ダイソミー paternal uniparental disomy of chromosome 14 https://monarchinitiative.org/MONDO:0011975 NANDO:1200689 http://nanbyodata.jp/ontology/NANDO_1200689 MONDO:0012176 http://www.w3.org/2004/02/skos/core#exactMatch エマヌエル症候群 Emanuel syndrome https://monarchinitiative.org/MONDO:0012176 NANDO:1200661 http://nanbyodata.jp/ontology/NANDO_1200661 MONDO:0015369 http://www.w3.org/2004/02/skos/core#exactMatch ジュベール症候群および関連疾患 Joubert syndrome and related disorders https://monarchinitiative.org/MONDO:0015369 NANDO:1200704 http://nanbyodata.jp/ontology/NANDO_1200704 MONDO:0015451 http://www.w3.org/2004/02/skos/core#exactMatch 単心室症 univentricular heart https://monarchinitiative.org/MONDO:0015451 NANDO:1200670 http://nanbyodata.jp/ontology/NANDO_1200670 MONDO:0015452 http://www.w3.org/2004/02/skos/core#exactMatch コフィン・シリス症候群 Coffin-Siris syndrome https://monarchinitiative.org/MONDO:0015452 NANDO:1200677 http://nanbyodata.jp/ontology/NANDO_1200677 MONDO:0016006 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群 Cockayne syndrome https://monarchinitiative.org/MONDO:0016006 NANDO:1200699 http://nanbyodata.jp/ontology/NANDO_1200699 MONDO:0016301 http://www.w3.org/2004/02/skos/core#exactMatch 完全大血管転位症 congenitally corrected transposition of the great arteries https://monarchinitiative.org/MONDO:0016301 NANDO:1200672 http://nanbyodata.jp/ontology/NANDO_1200672 MONDO:0016512 http://www.w3.org/2004/02/skos/core#exactMatch 歌舞伎症候群 Kabuki syndrome https://monarchinitiative.org/MONDO:0016512 NANDO:1200642 http://nanbyodata.jp/ontology/NANDO_1200642 MONDO:0016620 http://www.w3.org/2004/02/skos/core#exactMatch 肥厚性皮膚骨膜症 primary hypertrophic osteoarthropathy https://monarchinitiative.org/MONDO:0016620 NANDO:1200648 http://nanbyodata.jp/ontology/NANDO_1200648 MONDO:0017314 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 血管型 Ehlers-Danlos syndrome, vascular type https://monarchinitiative.org/MONDO:0017314 NANDO:1200693 http://nanbyodata.jp/ontology/NANDO_1200693 MONDO:0018072 http://www.w3.org/2004/02/skos/core#exactMatch 総動脈幹遺残症 persistent truncus arteriosus https://monarchinitiative.org/MONDO:0018072 NANDO:1200710 http://nanbyodata.jp/ontology/NANDO_1200710 MONDO:0018089 http://www.w3.org/2004/02/skos/core#exactMatch 両大血管右室起始症 double outlet right ventricle https://monarchinitiative.org/MONDO:0018089 NANDO:1200656 http://nanbyodata.jp/ontology/NANDO_1200656 MONDO:0018570 http://www.w3.org/2004/02/skos/core#exactMatch 低ホスファターゼ症 hypophosphatasia https://monarchinitiative.org/MONDO:0018570 NANDO:1200688 http://nanbyodata.jp/ontology/NANDO_1200688 MONDO:0018923 http://www.w3.org/2004/02/skos/core#exactMatch 22q11.2欠失症候群 22q11.2 deletion syndrome https://monarchinitiative.org/MONDO:0018923 NANDO:1200712 http://nanbyodata.jp/ontology/NANDO_1200712 MONDO:0018965 http://www.w3.org/2004/02/skos/core#exactMatch アルポート症候群 Alport syndrome https://monarchinitiative.org/MONDO:0018965 NANDO:1200680 http://nanbyodata.jp/ontology/NANDO_1200680 MONDO:0018997 http://www.w3.org/2004/02/skos/core#exactMatch ヌーナン症候群 Noonan syndrome https://monarchinitiative.org/MONDO:0018997 NANDO:1200679 http://nanbyodata.jp/ontology/NANDO_1200679 MONDO:0019349 http://www.w3.org/2004/02/skos/core#exactMatch ソトス症候群 Sotos syndrome https://monarchinitiative.org/MONDO:0019349 NANDO:1200698 http://nanbyodata.jp/ontology/NANDO_1200698 MONDO:0019443 http://www.w3.org/2004/02/skos/core#exactMatch 修正大血管転位症 dextro-looped transposition of the great arteries https://monarchinitiative.org/MONDO:0019443 NANDO:1200645 http://nanbyodata.jp/ontology/NANDO_1200645 MONDO:0020066 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群 Ehlers-Danlos syndrome https://monarchinitiative.org/MONDO:0020066 NANDO:1200714 http://nanbyodata.jp/ontology/NANDO_1200714 MONDO:0017236 http://www.w3.org/2004/02/skos/core#exactMatch "" rapidly progressive glomerulonephritis https://monarchinitiative.org/MONDO:0017236 NANDO:1200643 http://nanbyodata.jp/ontology/NANDO_1200643 MONDO:0024308 http://www.w3.org/2004/02/skos/core#exactMatch "" pseudoxanthoma elasticum (inherited or acquired) https://monarchinitiative.org/MONDO:0024308 NANDO:1200802 http://nanbyodata.jp/ontology/NANDO_1200802 MONDO:0004739 http://www.w3.org/2004/02/skos/core#exactMatch 尿素サイクル異常症 urea cycle disorder https://monarchinitiative.org/MONDO:0004739 NANDO:1200751 http://nanbyodata.jp/ontology/NANDO_1200751 MONDO:0008346 http://www.w3.org/2004/02/skos/core#exactMatch 肺血鉄症 pulmonary hemosiderosis https://monarchinitiative.org/MONDO:0008346 NANDO:1200763 http://nanbyodata.jp/ontology/NANDO_1200763 MONDO:0008972 http://www.w3.org/2004/02/skos/core#exactMatch 根性点状軟骨異形成症1型 rhizomelic chondrodysplasia punctata type 1 https://monarchinitiative.org/MONDO:0008972 NANDO:1200771 http://nanbyodata.jp/ontology/NANDO_1200771 MONDO:0009112 http://www.w3.org/2004/02/skos/core#exactMatch 根性点状軟骨異形成症2型 rhizomelic chondrodysplasia punctata type 2 https://monarchinitiative.org/MONDO:0009112 NANDO:1200800 http://nanbyodata.jp/ontology/NANDO_1200800 MONDO:0009281 http://www.w3.org/2004/02/skos/core#exactMatch グルタリルCoA脱水素酵素欠損症 glutaryl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0009281 NANDO:1200801 http://nanbyodata.jp/ontology/NANDO_1200801 MONDO:0009282 http://www.w3.org/2004/02/skos/core#exactMatch マルチプルアシルCoA脱水素酵素欠損症 multiple acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0009282 NANDO:1200717 http://nanbyodata.jp/ontology/NANDO_1200717 MONDO:0009303 http://www.w3.org/2004/02/skos/core#closeMatch 抗糸球体基底膜抗体症 anti-glomerular basement membrane disease https://monarchinitiative.org/MONDO:0009303 NANDO:1200718 http://nanbyodata.jp/ontology/NANDO_1200718 MONDO:0009303 http://www.w3.org/2004/02/skos/core#exactMatch 抗糸球体基底膜抗体症 anti-glomerular basement membrane disease https://monarchinitiative.org/MONDO:0009303 NANDO:1200803 http://nanbyodata.jp/ontology/NANDO_1200803 MONDO:0009376 http://www.w3.org/2004/02/skos/core#exactMatch カルバミルリン酸合成酵素I欠損症 carbamoyl phosphate synthetase I deficiency disease https://monarchinitiative.org/MONDO:0009376 NANDO:1200798 http://nanbyodata.jp/ontology/NANDO_1200798 MONDO:0009475 http://www.w3.org/2004/02/skos/core#exactMatch イソ吉草酸血症 isovaleric acidemia https://monarchinitiative.org/MONDO:0009475 NANDO:1200791 http://nanbyodata.jp/ontology/NANDO_1200791 MONDO:0009563 http://www.w3.org/2004/02/skos/core#exactMatch メープルシロップ尿症 maple syrup urine disease https://monarchinitiative.org/MONDO:0009563 NANDO:1200794 http://nanbyodata.jp/ontology/NANDO_1200794 MONDO:0009612 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロニルCoAムターゼ欠損によるメチルマロン酸尿症 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency https://monarchinitiative.org/MONDO:0009612 NANDO:1200795 http://nanbyodata.jp/ontology/NANDO_1200795 MONDO:0009613 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸血症cblA型 methylmalonic aciduria, cblA type https://monarchinitiative.org/MONDO:0009613 NANDO:1200796 http://nanbyodata.jp/ontology/NANDO_1200796 MONDO:0009614 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸血症cblB型 methylmalonic aciduria, cblB type https://monarchinitiative.org/MONDO:0009614 NANDO:1200752 http://nanbyodata.jp/ontology/NANDO_1200752 MONDO:0009763 http://www.w3.org/2004/02/skos/core#exactMatch 肥満低換気症候群 obesity-hypoventilation syndrome https://monarchinitiative.org/MONDO:0009763 NANDO:1200773 http://nanbyodata.jp/ontology/NANDO_1200773 MONDO:0009823 http://www.w3.org/2004/02/skos/core#exactMatch 原発性高シュウ酸尿症1型 primary hyperoxaluria type 1 https://monarchinitiative.org/MONDO:0009823 NANDO:1200766 http://nanbyodata.jp/ontology/NANDO_1200766 MONDO:0009855 http://www.w3.org/2004/02/skos/core#exactMatch d-二機能性蛋白欠損症 d-bifunctional protein deficiency https://monarchinitiative.org/MONDO:0009855 NANDO:1200785 http://nanbyodata.jp/ontology/NANDO_1200785 MONDO:0009861 http://www.w3.org/2004/02/skos/core#closeMatch フェニルケトン尿症 phenylketonuria https://monarchinitiative.org/MONDO:0009861 NANDO:1200784 http://nanbyodata.jp/ontology/NANDO_1200784 MONDO:0009861 http://www.w3.org/2004/02/skos/core#exactMatch フェニルケトン尿症 phenylketonuria https://monarchinitiative.org/MONDO:0009861 NANDO:1200765 http://nanbyodata.jp/ontology/NANDO_1200765 MONDO:0009919 http://www.w3.org/2004/02/skos/core#exactMatch アシルCoA オキシダーゼ欠損症 peroxisomal acyl-CoA oxidase deficiency https://monarchinitiative.org/MONDO:0009919 NANDO:1200782 http://nanbyodata.jp/ontology/NANDO_1200782 MONDO:0009924 http://www.w3.org/2004/02/skos/core#exactMatch ビタミンD依存性くる病, 1型 vitamin D-dependent rickets, type 1 https://monarchinitiative.org/MONDO:0009924 NANDO:1200769 http://nanbyodata.jp/ontology/NANDO_1200769 MONDO:0009958 http://www.w3.org/2004/02/skos/core#exactMatch 成人レフサム病 adult Refsum disease https://monarchinitiative.org/MONDO:0009958 NANDO:1200789 http://nanbyodata.jp/ontology/NANDO_1200789 MONDO:0010160 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症II型 tyrosinemia type II https://monarchinitiative.org/MONDO:0010160 NANDO:1200788 http://nanbyodata.jp/ontology/NANDO_1200788 MONDO:0010161 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症I型 tyrosinemia type I https://monarchinitiative.org/MONDO:0010161 NANDO:1200790 http://nanbyodata.jp/ontology/NANDO_1200790 MONDO:0010162 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症III型 tyrosinemia type III https://monarchinitiative.org/MONDO:0010162 NANDO:1200797 http://nanbyodata.jp/ontology/NANDO_1200797 MONDO:0010185 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸尿症およびホモシスチン尿症cblD型 methylmalonic aciduria and homocystinuria type cblD https://monarchinitiative.org/MONDO:0010185 NANDO:1200779 http://nanbyodata.jp/ontology/NANDO_1200779 MONDO:0010619 http://www.w3.org/2004/02/skos/core#closeMatch X連鎖顕性低リン血症性くる病 X-linked dominant hypophosphatemic rickets https://monarchinitiative.org/MONDO:0010619 NANDO:1200772 http://nanbyodata.jp/ontology/NANDO_1200772 MONDO:0010823 http://www.w3.org/2004/02/skos/core#exactMatch 根性点状軟骨異形成症3型 rhizomelic chondrodysplasia punctata type 3 https://monarchinitiative.org/MONDO:0010823 NANDO:1200779 http://nanbyodata.jp/ontology/NANDO_1200779 MONDO:0010931 http://www.w3.org/2004/02/skos/core#closeMatch ビタミンD依存性くる病, 2B型 vitamin D-dependent rickets, type 2B https://monarchinitiative.org/MONDO:0010931 NANDO:1200792 http://nanbyodata.jp/ontology/NANDO_1200792 MONDO:0011628 http://www.w3.org/2004/02/skos/core#exactMatch プロピオン酸血症 propionic acidemia https://monarchinitiative.org/MONDO:0011628 NANDO:1200799 http://nanbyodata.jp/ontology/NANDO_1200799 MONDO:0011724 http://www.w3.org/2004/02/skos/core#closeMatch GLUT1欠損による脳症 encephalopathy due to GLUT1 deficiency https://monarchinitiative.org/MONDO:0011724 NANDO:1200748 http://nanbyodata.jp/ontology/NANDO_1200748 MONDO:0012579 http://www.w3.org/2004/02/skos/core#closeMatch 自己免疫性肺胞蛋白症 autoimmune pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0012579 NANDO:1200747 http://nanbyodata.jp/ontology/NANDO_1200747 MONDO:0012579 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性肺胞蛋白症 autoimmune pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0012579 NANDO:1200746 http://nanbyodata.jp/ontology/NANDO_1200746 MONDO:0012580 http://www.w3.org/2004/02/skos/core#closeMatch 肺胞蛋白症 hereditary pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0012580 NANDO:1200750 http://nanbyodata.jp/ontology/NANDO_1200750 MONDO:0012580 http://www.w3.org/2004/02/skos/core#exactMatch 肺胞蛋白症 hereditary pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0012580 NANDO:1200755 http://nanbyodata.jp/ontology/NANDO_1200755 MONDO:0013282 http://www.w3.org/2004/02/skos/core#exactMatch α1-アンチトリプシン欠損症 alpha 1-antitrypsin deficiency https://monarchinitiative.org/MONDO:0013282 NANDO:1200767 http://nanbyodata.jp/ontology/NANDO_1200767 MONDO:0013391 http://www.w3.org/2004/02/skos/core#exactMatch ステロールキャリアプロテインX欠損症 sterol carrier protein 2 deficiency https://monarchinitiative.org/MONDO:0013391 NANDO:1200774 http://nanbyodata.jp/ontology/NANDO_1200774 MONDO:0013571 http://www.w3.org/2004/02/skos/core#exactMatch アカタラセミア acatalasia https://monarchinitiative.org/MONDO:0013571 NANDO:1200768 http://nanbyodata.jp/ontology/NANDO_1200768 MONDO:0013681 http://www.w3.org/2004/02/skos/core#exactMatch 2-メチルアシルCoAラセマーゼ欠損症 alpha-methylacyl-CoA racemase deficiency https://monarchinitiative.org/MONDO:0013681 NANDO:1200726 http://nanbyodata.jp/ontology/NANDO_1200726 MONDO:0014005 http://www.w3.org/2004/02/skos/core#exactMatch 一次性膜性増殖性糸球体腎炎I型 immunoglobulin-mediated membranoproliferative glomerulonephritis https://monarchinitiative.org/MONDO:0014005 NANDO:1200745 http://nanbyodata.jp/ontology/NANDO_1200745 MONDO:0015265 http://www.w3.org/2004/02/skos/core#exactMatch 閉塞性細気管支炎症候群 bronchiolitis obliterans syndrome https://monarchinitiative.org/MONDO:0015265 NANDO:1200756 http://nanbyodata.jp/ontology/NANDO_1200756 MONDO:0015285 http://www.w3.org/2004/02/skos/core#exactMatch カーニー複合 Carney complex https://monarchinitiative.org/MONDO:0015285 NANDO:1200742 http://nanbyodata.jp/ontology/NANDO_1200742 MONDO:0016383 http://www.w3.org/2004/02/skos/core#exactMatch 先天性腎性尿崩症 nephrogenic diabetes insipidus https://monarchinitiative.org/MONDO:0016383 NANDO:1200786 http://nanbyodata.jp/ontology/NANDO_1200786 MONDO:0016543 http://www.w3.org/2004/02/skos/core#exactMatch BH4欠損症 hyperphenylalaninemia due to tetrahydrobiopterin deficiency https://monarchinitiative.org/MONDO:0016543 NANDO:1200787 http://nanbyodata.jp/ontology/NANDO_1200787 MONDO:0017389 http://www.w3.org/2004/02/skos/core#exactMatch BH4反応性高Phe血症 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria https://monarchinitiative.org/MONDO:0017389 NANDO:1200770 http://nanbyodata.jp/ontology/NANDO_1200770 MONDO:0017986 http://www.w3.org/2004/02/skos/core#exactMatch プラスマローゲン合成系酵素欠損症 disorder of plasmalogens biosynthesis https://monarchinitiative.org/MONDO:0017986 NANDO:1200757 http://nanbyodata.jp/ontology/NANDO_1200757 MONDO:0018105 http://www.w3.org/2004/02/skos/core#exactMatch ウォルフラム症候群 Wolfram syndrome https://monarchinitiative.org/MONDO:0018105 NANDO:1200719 http://nanbyodata.jp/ontology/NANDO_1200719 MONDO:0018170 http://www.w3.org/2004/02/skos/core#exactMatch 特発性ネフローゼ症候群 idiopathic nephrotic syndrome https://monarchinitiative.org/MONDO:0018170 NANDO:1200743 http://nanbyodata.jp/ontology/NANDO_1200743 MONDO:0018301 http://www.w3.org/2004/02/skos/core#exactMatch 間質性膀胱炎(ハンナ型) interstitial cystitis https://monarchinitiative.org/MONDO:0018301 NANDO:1200749 http://nanbyodata.jp/ontology/NANDO_1200749 MONDO:0018483 http://www.w3.org/2004/02/skos/core#exactMatch 続発性肺胞蛋白症 secondary pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0018483 NANDO:1200725 http://nanbyodata.jp/ontology/NANDO_1200725 MONDO:0018904 http://www.w3.org/2004/02/skos/core#exactMatch 一次性膜性増殖性糸球体腎炎 primary membranoproliferative glomerulonephritis https://monarchinitiative.org/MONDO:0018904 NANDO:1200758 http://nanbyodata.jp/ontology/NANDO_1200758 MONDO:0019053 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム病 peroxisomal disease https://monarchinitiative.org/MONDO:0019053 NANDO:1200744 http://nanbyodata.jp/ontology/NANDO_1200744 MONDO:0019180 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性出血性毛細血管拡張症 hereditary hemorrhagic telangiectasia https://monarchinitiative.org/MONDO:0019180 NANDO:1200764 http://nanbyodata.jp/ontology/NANDO_1200764 MONDO:0019233 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソームβ酸化系酵素欠損症 disorder of peroxisomal beta oxidation https://monarchinitiative.org/MONDO:0019233 NANDO:1200759 http://nanbyodata.jp/ontology/NANDO_1200759 MONDO:0019234 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム生合成異常症 peroxisome biogenesis disorder https://monarchinitiative.org/MONDO:0019234 NANDO:1200760 http://nanbyodata.jp/ontology/NANDO_1200760 MONDO:0019609 http://www.w3.org/2004/02/skos/core#exactMatch ツェルベーガー症候群 Zellweger spectrum disorders https://monarchinitiative.org/MONDO:0019609 NANDO:1200783 http://nanbyodata.jp/ontology/NANDO_1200783 MONDO:0019642 http://www.w3.org/2004/02/skos/core#exactMatch ビタミンD依存性くる病, 2型 vitamin D-dependent rickets, type 2 https://monarchinitiative.org/MONDO:0019642 NANDO:1200739 http://nanbyodata.jp/ontology/NANDO_1200739 MONDO:0019736 http://www.w3.org/2004/02/skos/core#exactMatch 一次性膜性増殖性糸球体腎炎II型 dense deposit disease https://monarchinitiative.org/MONDO:0019736 NANDO:1200776 http://nanbyodata.jp/ontology/NANDO_1200776 MONDO:0019992 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症 pseudohypoparathyroidism https://monarchinitiative.org/MONDO:0019992 NANDO:1200799 http://nanbyodata.jp/ontology/NANDO_1200799 MONDO:0000188 http://www.w3.org/2004/02/skos/core#exactMatch "" GLUT1 deficiency syndrome https://monarchinitiative.org/MONDO:0000188 NANDO:1200775 http://nanbyodata.jp/ontology/NANDO_1200775 MONDO:0001220 http://www.w3.org/2004/02/skos/core#exactMatch "" hypoparathyroidism https://monarchinitiative.org/MONDO:0001220 NANDO:1200746 http://nanbyodata.jp/ontology/NANDO_1200746 MONDO:0001437 http://www.w3.org/2004/02/skos/core#exactMatch "" pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0001437 NANDO:1200723 http://nanbyodata.jp/ontology/NANDO_1200723 MONDO:0001645 http://www.w3.org/2004/02/skos/core#exactMatch "" crescentic glomerulonephritis https://monarchinitiative.org/MONDO:0001645 NANDO:1200793 http://nanbyodata.jp/ontology/NANDO_1200793 MONDO:0002012 http://www.w3.org/2004/02/skos/core#exactMatch "" methylmalonic acidemia https://monarchinitiative.org/MONDO:0002012 NANDO:1200717 http://nanbyodata.jp/ontology/NANDO_1200717 MONDO:0003136 http://www.w3.org/2004/02/skos/core#exactMatch "" anti-basement membrane glomerulonephritis https://monarchinitiative.org/MONDO:0003136 NANDO:1200722 http://nanbyodata.jp/ontology/NANDO_1200722 MONDO:0005363 http://www.w3.org/2004/02/skos/core#exactMatch "" inherited focal segmental glomerulosclerosis https://monarchinitiative.org/MONDO:0005363 NANDO:1200721 http://nanbyodata.jp/ontology/NANDO_1200721 MONDO:0005376 http://www.w3.org/2004/02/skos/core#exactMatch "" membranous glomerulonephritis https://monarchinitiative.org/MONDO:0005376 NANDO:1200720 http://nanbyodata.jp/ontology/NANDO_1200720 MONDO:0006835 http://www.w3.org/2004/02/skos/core#exactMatch "" lipoid nephrosis https://monarchinitiative.org/MONDO:0006835 NANDO:1200723 http://nanbyodata.jp/ontology/NANDO_1200723 MONDO:0017236 http://www.w3.org/2004/02/skos/core#closeMatch "" rapidly progressive glomerulonephritis https://monarchinitiative.org/MONDO:0017236 NANDO:1200781 http://nanbyodata.jp/ontology/NANDO_1200781 MONDO:0024299 http://www.w3.org/2004/02/skos/core#exactMatch "" vitamin D-dependent rickets https://monarchinitiative.org/MONDO:0024299 NANDO:1200778 http://nanbyodata.jp/ontology/NANDO_1200778 MONDO:0024300 http://www.w3.org/2004/02/skos/core#closeMatch "" hypophosphatemic rickets https://monarchinitiative.org/MONDO:0024300 NANDO:1200780 http://nanbyodata.jp/ontology/NANDO_1200780 MONDO:0024300 http://www.w3.org/2004/02/skos/core#closeMatch "" hypophosphatemic rickets https://monarchinitiative.org/MONDO:0024300 NANDO:1200838 http://nanbyodata.jp/ontology/NANDO_1200838 MONDO:0002412 http://www.w3.org/2004/02/skos/core#closeMatch 糖原質代謝障害 disorder of glycogen metabolism https://monarchinitiative.org/MONDO:0002412 NANDO:1200840 http://nanbyodata.jp/ontology/NANDO_1200840 MONDO:0002413 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病I型 glycogen storage disease I https://monarchinitiative.org/MONDO:0002413 NANDO:1200877 http://nanbyodata.jp/ontology/NANDO_1200877 MONDO:0007037 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨無形成症 Achondroplasia https://monarchinitiative.org/MONDO:0007037 NANDO:1200888 http://nanbyodata.jp/ontology/NANDO_1200888 MONDO:0007109 http://www.w3.org/2004/02/skos/core#exactMatch 先天性赤血球形成異常性貧血III型 congenital dyserythropoietic anemia type 3 https://monarchinitiative.org/MONDO:0007109 NANDO:1200813 http://nanbyodata.jp/ontology/NANDO_1200813 MONDO:0007369 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性コプロポルフィリン症 hereditary coproporphyria https://monarchinitiative.org/MONDO:0007369 NANDO:1200878 http://nanbyodata.jp/ontology/NANDO_1200878 MONDO:0007414 http://www.w3.org/2004/02/skos/core#exactMatch ゴーハム・スタウト病 Gorham-Stout disease https://monarchinitiative.org/MONDO:0007414 NANDO:1200871 http://nanbyodata.jp/ontology/NANDO_1200871 MONDO:0007606 http://www.w3.org/2004/02/skos/core#exactMatch 進行性骨化性線維異形成症 fibrodysplasia ossificans progressiva https://monarchinitiative.org/MONDO:0007606 NANDO:1200884 http://nanbyodata.jp/ontology/NANDO_1200884 MONDO:0007864 http://www.w3.org/2004/02/skos/core#exactMatch 血管骨肥大症候群 angioosteohypertrophic syndrome https://monarchinitiative.org/MONDO:0007864 NANDO:1200812 http://nanbyodata.jp/ontology/NANDO_1200812 MONDO:0008294 http://www.w3.org/2004/02/skos/core#exactMatch 急性間欠性ポルフィリン症 acute intermittent porphyria https://monarchinitiative.org/MONDO:0008294 NANDO:1200814 http://nanbyodata.jp/ontology/NANDO_1200814 MONDO:0008297 http://www.w3.org/2004/02/skos/core#exactMatch 異型ポルフィリン症 variegate porphyria https://monarchinitiative.org/MONDO:0008297 NANDO:1200815 http://nanbyodata.jp/ontology/NANDO_1200815 MONDO:0008319 http://www.w3.org/2004/02/skos/core#closeMatch プロトポルフィリン症, 骨髄性, 1 protoporphyria, erythropoietic, 1 https://monarchinitiative.org/MONDO:0008319 NANDO:1200875 http://nanbyodata.jp/ontology/NANDO_1200875 MONDO:0008546 http://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症1型 thanatophoric dysplasia type 1 https://monarchinitiative.org/MONDO:0008546 NANDO:1200876 http://nanbyodata.jp/ontology/NANDO_1200876 MONDO:0008547 http://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症2型 thanatophoric dysplasia type 2 https://monarchinitiative.org/MONDO:0008547 NANDO:1200857 http://nanbyodata.jp/ontology/NANDO_1200857 MONDO:0008692 http://www.w3.org/2004/02/skos/core#exactMatch 無βリポタンパク血症 abetalipoproteinemia https://monarchinitiative.org/MONDO:0008692 NANDO:1200854 http://nanbyodata.jp/ontology/NANDO_1200854 MONDO:0008783 http://www.w3.org/2004/02/skos/core#exactMatch タンジール病 Tangier disease https://monarchinitiative.org/MONDO:0008783 NANDO:1200807 http://nanbyodata.jp/ontology/NANDO_1200807 MONDO:0008814 http://www.w3.org/2004/02/skos/core#exactMatch 高アルギニン血症 hyperargininemia https://monarchinitiative.org/MONDO:0008814 NANDO:1200806 http://nanbyodata.jp/ontology/NANDO_1200806 MONDO:0008815 http://www.w3.org/2004/02/skos/core#exactMatch アルギニノコハク酸尿症 argininosuccinic aciduria https://monarchinitiative.org/MONDO:0008815 NANDO:1200853 http://nanbyodata.jp/ontology/NANDO_1200853 MONDO:0008863 http://www.w3.org/2004/02/skos/core#exactMatch シトステロール血症 sitosterolemia https://monarchinitiative.org/MONDO:0008863 NANDO:1200856 http://nanbyodata.jp/ontology/NANDO_1200856 MONDO:0008948 http://www.w3.org/2004/02/skos/core#exactMatch 脳腱黄色腫症 cerebrotendinous xanthomatosis https://monarchinitiative.org/MONDO:0008948 NANDO:1200805 http://nanbyodata.jp/ontology/NANDO_1200805 MONDO:0008988 http://www.w3.org/2004/02/skos/core#exactMatch シトルリン血症I型 citrullinemia type I https://monarchinitiative.org/MONDO:0008988 NANDO:1200809 http://nanbyodata.jp/ontology/NANDO_1200809 MONDO:0009109 http://www.w3.org/2004/02/skos/core#exactMatch リジン尿性蛋白不耐症 lysinuric protein intolerance https://monarchinitiative.org/MONDO:0009109 NANDO:1200887 http://nanbyodata.jp/ontology/NANDO_1200887 MONDO:0009134 http://www.w3.org/2004/02/skos/core#exactMatch 先天性赤血球形成異常性貧血II型 congenital dyserythropoietic anemia type 2 https://monarchinitiative.org/MONDO:0009134 NANDO:1200810 http://nanbyodata.jp/ontology/NANDO_1200810 MONDO:0009238 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性葉酸吸収不全症 hereditary folate malabsorption https://monarchinitiative.org/MONDO:0009238 NANDO:1200851 http://nanbyodata.jp/ontology/NANDO_1200851 MONDO:0009258 http://www.w3.org/2004/02/skos/core#exactMatch 古典型ガラクトース血症 classic galactosemia https://monarchinitiative.org/MONDO:0009258 NANDO:1200841 http://nanbyodata.jp/ontology/NANDO_1200841 MONDO:0009288 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病Ib glycogen storage disease Ib https://monarchinitiative.org/MONDO:0009288 NANDO:1200825 http://nanbyodata.jp/ontology/NANDO_1200825 MONDO:0009290 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病II glycogen storage disease II https://monarchinitiative.org/MONDO:0009290 NANDO:1200844 http://nanbyodata.jp/ontology/NANDO_1200844 MONDO:0009291 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病III glycogen storage disease III https://monarchinitiative.org/MONDO:0009291 NANDO:1200826 http://nanbyodata.jp/ontology/NANDO_1200826 MONDO:0009291 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病III glycogen storage disease III https://monarchinitiative.org/MONDO:0009291 NANDO:1200850 http://nanbyodata.jp/ontology/NANDO_1200850 MONDO:0009292 http://www.w3.org/2004/02/skos/core#closeMatch グリコーゲン分枝酵素欠損による糖原病 glycogen storage disease due to glycogen branching enzyme deficiency https://monarchinitiative.org/MONDO:0009292 NANDO:1200827 http://nanbyodata.jp/ontology/NANDO_1200827 MONDO:0009292 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損による糖原病 glycogen storage disease due to glycogen branching enzyme deficiency https://monarchinitiative.org/MONDO:0009292 NANDO:1200828 http://nanbyodata.jp/ontology/NANDO_1200828 MONDO:0009293 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病V glycogen storage disease V https://monarchinitiative.org/MONDO:0009293 NANDO:1200846 http://nanbyodata.jp/ontology/NANDO_1200846 MONDO:0009294 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VI glycogen storage disease VI https://monarchinitiative.org/MONDO:0009294 NANDO:1200823 http://nanbyodata.jp/ontology/NANDO_1200823 MONDO:0009295 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病VII glycogen storage disease VII https://monarchinitiative.org/MONDO:0009295 NANDO:1200829 http://nanbyodata.jp/ontology/NANDO_1200829 MONDO:0009295 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VII glycogen storage disease VII https://monarchinitiative.org/MONDO:0009295 NANDO:1200808 http://nanbyodata.jp/ontology/NANDO_1200808 MONDO:0009377 http://www.w3.org/2004/02/skos/core#exactMatch Nアセチルグルタミン酸合成酵素欠損による高アンモニア血症 hyperammonemia due to N-acetylglutamate synthase deficiency https://monarchinitiative.org/MONDO:0009377 NANDO:1200838 http://nanbyodata.jp/ontology/NANDO_1200838 MONDO:0009414 http://www.w3.org/2004/02/skos/core#closeMatch 肝グリコーゲン合成酵素欠損による糖原病 glycogen storage disorder due to hepatic glycogen synthase deficiency https://monarchinitiative.org/MONDO:0009414 NANDO:1200824 http://nanbyodata.jp/ontology/NANDO_1200824 MONDO:0009414 http://www.w3.org/2004/02/skos/core#exactMatch 肝グリコーゲン合成酵素欠損による糖原病 glycogen storage disorder due to hepatic glycogen synthase deficiency https://monarchinitiative.org/MONDO:0009414 NANDO:1200852 http://nanbyodata.jp/ontology/NANDO_1200852 MONDO:0009515 http://www.w3.org/2004/02/skos/core#closeMatch 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://monarchinitiative.org/MONDO:0009515 NANDO:1200864 http://nanbyodata.jp/ontology/NANDO_1200864 MONDO:0009572 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性家族性地中海熱 autosomal recessive familial Mediterranean fever https://monarchinitiative.org/MONDO:0009572 NANDO:1200822 http://nanbyodata.jp/ontology/NANDO_1200822 MONDO:0009665 http://www.w3.org/2004/02/skos/core#exactMatch ビオチニダーゼ欠損症 biotinidase deficiency https://monarchinitiative.org/MONDO:0009665 NANDO:1200821 http://nanbyodata.jp/ontology/NANDO_1200821 MONDO:0009666 http://www.w3.org/2004/02/skos/core#exactMatch ホロカルボキシラーゼ合成酵素欠損症 holocarboxylase synthetase deficiency https://monarchinitiative.org/MONDO:0009666 NANDO:1200867 http://nanbyodata.jp/ontology/NANDO_1200867 MONDO:0009726 http://www.w3.org/2004/02/skos/core#exactMatch プロテアソーム関連自己炎症症候群 proteosome-associated autoinflammatory syndrome https://monarchinitiative.org/MONDO:0009726 NANDO:1200869 http://nanbyodata.jp/ontology/NANDO_1200869 MONDO:0009813 http://www.w3.org/2004/02/skos/core#exactMatch 慢性再発性多発性骨髄炎 chronic recurrent multifocal osteomyelitis https://monarchinitiative.org/MONDO:0009813 NANDO:1200866 http://nanbyodata.jp/ontology/NANDO_1200866 MONDO:0009849 http://www.w3.org/2004/02/skos/core#closeMatch 周期熱を伴う高ガンマグロブリン血症D hyperimmunoglobulinemia D with periodic fever https://monarchinitiative.org/MONDO:0009849 NANDO:1200832 http://nanbyodata.jp/ontology/NANDO_1200832 MONDO:0009865 http://www.w3.org/2004/02/skos/core#exactMatch ホスホグリセリン酸ムターゼ欠損による糖原病 glycogen storage disease due to phosphoglycerate mutase deficiency https://monarchinitiative.org/MONDO:0009865 NANDO:1200848 http://nanbyodata.jp/ontology/NANDO_1200848 MONDO:0009868 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXb glycogen storage disease IXb https://monarchinitiative.org/MONDO:0009868 NANDO:1200817 http://nanbyodata.jp/ontology/NANDO_1200817 MONDO:0009902 http://www.w3.org/2004/02/skos/core#exactMatch 皮膚ポルフィリン症 cutaneous porphyria https://monarchinitiative.org/MONDO:0009902 NANDO:1200830 http://nanbyodata.jp/ontology/NANDO_1200830 MONDO:0010362 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXd glycogen storage disease IXd https://monarchinitiative.org/MONDO:0010362 NANDO:1200831 http://nanbyodata.jp/ontology/NANDO_1200831 MONDO:0010392 http://www.w3.org/2004/02/skos/core#exactMatch ホスホグリセリン酸キナーゼ欠損による糖原病 glycogen storage disease due to phosphoglycerate kinase 1 deficiency https://monarchinitiative.org/MONDO:0010392 NANDO:1200818 http://nanbyodata.jp/ontology/NANDO_1200818 MONDO:0010420 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖骨髄性プロトポルフィリン症 X-linked erythropoietic protoporphyria https://monarchinitiative.org/MONDO:0010420 NANDO:1200847 http://nanbyodata.jp/ontology/NANDO_1200847 MONDO:0010598 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXa1 glycogen storage disease IXa1 https://monarchinitiative.org/MONDO:0010598 NANDO:1200804 http://nanbyodata.jp/ontology/NANDO_1200804 MONDO:0010703 http://www.w3.org/2004/02/skos/core#exactMatch OTC欠損症 ornithine carbamoyltransferase deficiency https://monarchinitiative.org/MONDO:0010703 NANDO:1200868 http://nanbyodata.jp/ontology/NANDO_1200868 MONDO:0011462 http://www.w3.org/2004/02/skos/core#exactMatch 化膿性関節炎-壊疽性膿皮症-ざ瘡症候群 pyogenic arthritis-pyoderma gangrenosum-acne syndrome https://monarchinitiative.org/MONDO:0011462 NANDO:1200862 http://nanbyodata.jp/ontology/NANDO_1200862 MONDO:0012104 http://www.w3.org/2004/02/skos/core#exactMatch 後天性部分性リポジストロフィー acquired partial lipodystrophy https://monarchinitiative.org/MONDO:0012104 NANDO:1200866 http://nanbyodata.jp/ontology/NANDO_1200866 MONDO:0012481 http://www.w3.org/2004/02/skos/core#closeMatch 高IgD症候群 mevalonic aciduria https://monarchinitiative.org/MONDO:0012481 NANDO:1200834 http://nanbyodata.jp/ontology/NANDO_1200834 MONDO:0012747 http://www.w3.org/2004/02/skos/core#exactMatch アルドラーゼA欠損による糖原病 glycogen storage disease due to aldolase A deficiency https://monarchinitiative.org/MONDO:0012747 NANDO:1200835 http://nanbyodata.jp/ontology/NANDO_1200835 MONDO:0013046 http://www.w3.org/2004/02/skos/core#exactMatch 筋βエノラーゼ欠損による糖原病 glycogen storage disease due to muscle beta-enolase deficiency https://monarchinitiative.org/MONDO:0013046 NANDO:1200833 http://nanbyodata.jp/ontology/NANDO_1200833 MONDO:0013047 http://www.w3.org/2004/02/skos/core#exactMatch 乳酸脱水素酵素Mサブユニット欠損による糖原病 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency https://monarchinitiative.org/MONDO:0013047 NANDO:1200849 http://nanbyodata.jp/ontology/NANDO_1200849 MONDO:0013091 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXc glycogen storage disease IXc https://monarchinitiative.org/MONDO:0013091 NANDO:1200837 http://nanbyodata.jp/ontology/NANDO_1200837 MONDO:0013291 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病XV glycogen storage disease XV https://monarchinitiative.org/MONDO:0013291 NANDO:1200836 http://nanbyodata.jp/ontology/NANDO_1200836 MONDO:0013968 http://www.w3.org/2004/02/skos/core#exactMatch PGM1-先天性グリコシル化異常症 PGM1-congenital disorder of glycosylation https://monarchinitiative.org/MONDO:0013968 NANDO:1200816 http://nanbyodata.jp/ontology/NANDO_1200816 MONDO:0015104 http://www.w3.org/2004/02/skos/core#exactMatch 晩発性皮膚ポルフィリン症 porphyria cutanea tarda https://monarchinitiative.org/MONDO:0015104 NANDO:1200820 http://nanbyodata.jp/ontology/NANDO_1200820 MONDO:0015454 http://www.w3.org/2004/02/skos/core#exactMatch 複合カルボキシラーゼ欠損症 multiple carboxylase deficiency https://monarchinitiative.org/MONDO:0015454 NANDO:1200874 http://nanbyodata.jp/ontology/NANDO_1200874 MONDO:0017042 http://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症 thanatophoric dysplasia https://monarchinitiative.org/MONDO:0017042 NANDO:1200863 http://nanbyodata.jp/ontology/NANDO_1200863 MONDO:0018088 http://www.w3.org/2004/02/skos/core#exactMatch 家族性地中海熱 familial Mediterranean fever https://monarchinitiative.org/MONDO:0018088 NANDO:1200859 http://nanbyodata.jp/ontology/NANDO_1200859 MONDO:0018883 http://www.w3.org/2004/02/skos/core#exactMatch 先天性全身性脂肪萎縮症 Berardinelli-Seip congenital lipodystrophy https://monarchinitiative.org/MONDO:0018883 NANDO:1200852 http://nanbyodata.jp/ontology/NANDO_1200852 MONDO:0018999 http://www.w3.org/2004/02/skos/core#exactMatch 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 LCAT deficiency https://monarchinitiative.org/MONDO:0018999 NANDO:1200873 http://nanbyodata.jp/ontology/NANDO_1200873 MONDO:0019019 http://www.w3.org/2004/02/skos/core#exactMatch 骨形成不全症 osteogenesis imperfecta https://monarchinitiative.org/MONDO:0019019 NANDO:1200860 http://nanbyodata.jp/ontology/NANDO_1200860 MONDO:0019193 http://www.w3.org/2004/02/skos/core#exactMatch 先天性全身性リポジストロフィー acquired generalized lipodystrophy https://monarchinitiative.org/MONDO:0019193 NANDO:1200815 http://nanbyodata.jp/ontology/NANDO_1200815 MONDO:0019263 http://www.w3.org/2004/02/skos/core#closeMatch 常染色体性骨髄性プロトポルフィリン症 autosomal erythropoietic protoporphyria https://monarchinitiative.org/MONDO:0019263 NANDO:1200881 http://nanbyodata.jp/ontology/NANDO_1200881 MONDO:0019328 http://www.w3.org/2004/02/skos/core#closeMatch マクロシスティック型リンパ管奇形 macrocystic lymphatic malformation https://monarchinitiative.org/MONDO:0019328 NANDO:1200885 http://nanbyodata.jp/ontology/NANDO_1200885 MONDO:0019403 http://www.w3.org/2004/02/skos/core#exactMatch 先天性赤血球形成異常性貧血 congenital dyserythropoietic anemia https://monarchinitiative.org/MONDO:0019403 NANDO:1200819 http://nanbyodata.jp/ontology/NANDO_1200819 MONDO:0019799 http://www.w3.org/2004/02/skos/core#exactMatch 肝性骨髄性ポルフィリン症 hepatoerythropoietic porphyria https://monarchinitiative.org/MONDO:0019799 NANDO:1200861 http://nanbyodata.jp/ontology/NANDO_1200861 MONDO:0020088 http://www.w3.org/2004/02/skos/core#exactMatch 家族性部分性リポジストロフィー familial partial lipodystrophy https://monarchinitiative.org/MONDO:0020088 NANDO:1200886 http://nanbyodata.jp/ontology/NANDO_1200886 MONDO:0020337 http://www.w3.org/2004/02/skos/core#exactMatch 先天性赤血球形成異常性貧血I型 congenital dyserythropoietic anemia type 1 https://monarchinitiative.org/MONDO:0020337 NANDO:1200815 http://nanbyodata.jp/ontology/NANDO_1200815 MONDO:0001676 http://www.w3.org/2004/02/skos/core#exactMatch "" erythropoietic protoporphyria https://monarchinitiative.org/MONDO:0001676 NANDO:1200878 http://nanbyodata.jp/ontology/NANDO_1200878 MONDO:0003157 http://www.w3.org/2004/02/skos/core#closeMatch "" disappearing bone disease https://monarchinitiative.org/MONDO:0003157 NANDO:1200871 http://nanbyodata.jp/ontology/NANDO_1200871 MONDO:0003964 http://www.w3.org/2004/02/skos/core#closeMatch "" myositis ossificans https://monarchinitiative.org/MONDO:0003964 NANDO:1200870 http://nanbyodata.jp/ontology/NANDO_1200870 MONDO:0005306 http://www.w3.org/2004/02/skos/core#exactMatch "" ankylosing spondylitis https://monarchinitiative.org/MONDO:0005306 NANDO:1200859 http://nanbyodata.jp/ontology/NANDO_1200859 MONDO:0006536 http://www.w3.org/2004/02/skos/core#exactMatch "" congenital generalized lipodystrophy https://monarchinitiative.org/MONDO:0006536 NANDO:1200858 http://nanbyodata.jp/ontology/NANDO_1200858 MONDO:0006573 http://www.w3.org/2004/02/skos/core#exactMatch "" lipodystrophy https://monarchinitiative.org/MONDO:0006573 NANDO:1200841 http://nanbyodata.jp/ontology/NANDO_1200841 MONDO:0023258 http://www.w3.org/2004/02/skos/core#closeMatch "" glycogen storage disease type 1 due to SLC37A4 mutation https://monarchinitiative.org/MONDO:0023258 NANDO:1200811 http://nanbyodata.jp/ontology/NANDO_1200811 MONDO:0037939 http://www.w3.org/2004/02/skos/core#exactMatch "" porphyria https://monarchinitiative.org/MONDO:0037939 NANDO:1200911 http://nanbyodata.jp/ontology/NANDO_1200911 MONDO:0005711 http://www.w3.org/2004/02/skos/core#exactMatch 先天性横隔膜ヘルニア congenital diaphragmatic hernia https://monarchinitiative.org/MONDO:0005711 NANDO:1200919 http://nanbyodata.jp/ontology/NANDO_1200919 MONDO:0007318 http://www.w3.org/2004/02/skos/core#closeMatch アラジール症候群 Alagille syndrome https://monarchinitiative.org/MONDO:0007318 NANDO:1200918 http://nanbyodata.jp/ontology/NANDO_1200918 MONDO:0007318 http://www.w3.org/2004/02/skos/core#exactMatch アラジール症候群 Alagille syndrome https://monarchinitiative.org/MONDO:0007318 NANDO:1200921 http://nanbyodata.jp/ontology/NANDO_1200921 MONDO:0008185 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性慢性膵炎 hereditary chronic pancreatitis https://monarchinitiative.org/MONDO:0008185 NANDO:1200901 http://nanbyodata.jp/ontology/NANDO_1200901 MONDO:0008283 http://www.w3.org/2004/02/skos/core#exactMatch クロンカイト・カナダ症候群 Cronkhite-Canada syndrome https://monarchinitiative.org/MONDO:0008283 NANDO:1200913 http://nanbyodata.jp/ontology/NANDO_1200913 MONDO:0008867 http://www.w3.org/2004/02/skos/core#exactMatch 胆道閉鎖症 biliary atresia https://monarchinitiative.org/MONDO:0008867 NANDO:1200922 http://nanbyodata.jp/ontology/NANDO_1200922 MONDO:0009061 http://www.w3.org/2004/02/skos/core#exactMatch 嚢胞性線維症 cystic fibrosis https://monarchinitiative.org/MONDO:0009061 NANDO:1200910 http://nanbyodata.jp/ontology/NANDO_1200910 MONDO:0009774 http://www.w3.org/2004/02/skos/core#closeMatch 総排泄腔外反症 cloacal exstrophy https://monarchinitiative.org/MONDO:0009774 NANDO:1200909 http://nanbyodata.jp/ontology/NANDO_1200909 MONDO:0009774 http://www.w3.org/2004/02/skos/core#exactMatch 総排泄腔外反症 cloacal exstrophy https://monarchinitiative.org/MONDO:0009774 NANDO:1200962 http://nanbyodata.jp/ontology/NANDO_1200962 MONDO:0011514 http://www.w3.org/2004/02/skos/core#closeMatch 三尖弁閉鎖症 tricuspid atresia https://monarchinitiative.org/MONDO:0011514 NANDO:1200925 http://nanbyodata.jp/ontology/NANDO_1200925 MONDO:0015175 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性膵炎 autoimmune pancreatitis https://monarchinitiative.org/MONDO:0015175 NANDO:1200890 http://nanbyodata.jp/ontology/NANDO_1200890 MONDO:0015253 http://www.w3.org/2004/02/skos/core#exactMatch ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia https://monarchinitiative.org/MONDO:0015253 NANDO:1200923 http://nanbyodata.jp/ontology/NANDO_1200923 MONDO:0017287 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連疾患 IgG4-related disease https://monarchinitiative.org/MONDO:0017287 NANDO:1200924 http://nanbyodata.jp/ontology/NANDO_1200924 MONDO:0017287 http://www.w3.org/2004/02/skos/core#closeMatch IgG4関連疾患 IgG4-related disease https://monarchinitiative.org/MONDO:0017287 NANDO:1200903 http://nanbyodata.jp/ontology/NANDO_1200903 MONDO:0018309 http://www.w3.org/2004/02/skos/core#exactMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:1200928 http://nanbyodata.jp/ontology/NANDO_1200928 MONDO:0018645 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連硬化性胆管炎 IgG4-related sclerosing cholangitis https://monarchinitiative.org/MONDO:0018645 NANDO:1200930 http://nanbyodata.jp/ontology/NANDO_1200930 MONDO:0018671 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連腎臓病 IgG4-related kidney disease https://monarchinitiative.org/MONDO:0018671 NANDO:1200929 http://nanbyodata.jp/ontology/NANDO_1200929 MONDO:0019191 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連涙腺・眼窩および唾液腺病変 IgG4-related dacryoadenitis and sialadenitis https://monarchinitiative.org/MONDO:0019191 NANDO:1200891 http://nanbyodata.jp/ontology/NANDO_1200891 MONDO:0019391 http://www.w3.org/2004/02/skos/core#exactMatch ファンコニ貧血 Fanconi anemia https://monarchinitiative.org/MONDO:0019391 NANDO:1200962 http://nanbyodata.jp/ontology/NANDO_1200962 MONDO:0019813 http://www.w3.org/2004/02/skos/core#closeMatch 先天性三尖弁狭窄症 congenital tricuspid stenosis https://monarchinitiative.org/MONDO:0019813 NANDO:1200892 http://nanbyodata.jp/ontology/NANDO_1200892 MONDO:0020099 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性鉄芽球性貧血 inherited sideroblastic anemia https://monarchinitiative.org/MONDO:0020099 NANDO:1200889 http://nanbyodata.jp/ontology/NANDO_1200889 MONDO:0020338 http://www.w3.org/2004/02/skos/core#exactMatch 後天性赤芽球癆 adult pure red cell aplasia https://monarchinitiative.org/MONDO:0020338 NANDO:1200899 http://nanbyodata.jp/ontology/NANDO_1200899 MONDO:0020460 http://www.w3.org/2004/02/skos/core#exactMatch 後天性フォンウィルブランド病 acquired von willebrand syndrome https://monarchinitiative.org/MONDO:0020460 NANDO:1200897 http://nanbyodata.jp/ontology/NANDO_1200897 MONDO:0021133 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性後天性凝固第 XIII/13 因子欠乏症 acquired factor XIII deficiency https://monarchinitiative.org/MONDO:0021133 NANDO:1200939 http://nanbyodata.jp/ontology/NANDO_1200939 MONDO:0004890 http://www.w3.org/2004/02/skos/core#closeMatch "" partial central choroid dystrophy https://monarchinitiative.org/MONDO:0004890 NANDO:1200898 http://nanbyodata.jp/ontology/NANDO_1200898 MONDO:0019139 http://www.w3.org/2004/02/skos/core#exactMatch "" acquired hemophilia https://monarchinitiative.org/MONDO:0019139 NANDO:1200931 http://nanbyodata.jp/ontology/NANDO_1200931 MONDO:0020242 http://www.w3.org/2004/02/skos/core#exactMatch "" hereditary macular dystrophy https://monarchinitiative.org/MONDO:0020242 NANDO:1200896 http://nanbyodata.jp/ontology/NANDO_1200896 MONDO:0020599 http://www.w3.org/2004/02/skos/core#exactMatch "" acquired coagulation factor deficiency https://monarchinitiative.org/MONDO:0020599 NANDO:1200943 http://nanbyodata.jp/ontology/NANDO_1200943 MONDO:0016484 http://www.w3.org/2004/02/skos/core#exactMatch アッシャー症候群2型 Usher syndrome type 2 https://monarchinitiative.org/MONDO:0016484 NANDO:1200936 http://nanbyodata.jp/ontology/NANDO_1200936 MONDO:0000455 http://www.w3.org/2004/02/skos/core#exactMatch 錐体ジストロフィー cone dystrophy https://monarchinitiative.org/MONDO:0000455 NANDO:1200967 http://nanbyodata.jp/ontology/NANDO_1200967 MONDO:0008061 http://www.w3.org/2004/02/skos/core#exactMatch ネイル・パテラ症候群 nail-patella syndrome https://monarchinitiative.org/MONDO:0008061 NANDO:1200939 http://nanbyodata.jp/ontology/NANDO_1200939 MONDO:0008982 http://www.w3.org/2004/02/skos/core#exactMatch 中心性輪紋状脈絡膜萎縮症 central areolar choroidal dystrophy https://monarchinitiative.org/MONDO:0008982 NANDO:1200955 http://nanbyodata.jp/ontology/NANDO_1200955 MONDO:0009697 http://www.w3.org/2004/02/skos/core#exactMatch ラフォラ病 Lafora disease https://monarchinitiative.org/MONDO:0009697 NANDO:1200954 http://nanbyodata.jp/ontology/NANDO_1200954 MONDO:0009698 http://www.w3.org/2004/02/skos/core#exactMatch ウンフェルリヒト・ルントボルグ病 Unverricht-Lundborg syndrome https://monarchinitiative.org/MONDO:0009698 NANDO:1200970 http://nanbyodata.jp/ontology/NANDO_1200970 MONDO:0009705 http://www.w3.org/2004/02/skos/core#exactMatch カルニチンパルミトイルトランスフェラーゼ1A欠損症 carnitine palmitoyl transferase 1A deficiency https://monarchinitiative.org/MONDO:0009705 NANDO:1200961 http://nanbyodata.jp/ontology/NANDO_1200961 MONDO:0010035 http://www.w3.org/2004/02/skos/core#exactMatch スミス・レムリ・オピッツ症候群 Smith-Lemli-Opitz syndrome https://monarchinitiative.org/MONDO:0010035 NANDO:1200948 http://nanbyodata.jp/ontology/NANDO_1200948 MONDO:0010079 http://www.w3.org/2004/02/skos/core#exactMatch カドミウム中毒 Canavan disease https://monarchinitiative.org/MONDO:0010079 NANDO:1200942 http://nanbyodata.jp/ontology/NANDO_1200942 MONDO:0010168 http://www.w3.org/2004/02/skos/core#exactMatch アッシャー症候群1型 Usher syndrome type 1 https://monarchinitiative.org/MONDO:0010168 NANDO:1200938 http://nanbyodata.jp/ontology/NANDO_1200938 MONDO:0010725 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性網膜分離症 X-linked retinoschisis https://monarchinitiative.org/MONDO:0010725 NANDO:1200940 http://nanbyodata.jp/ontology/NANDO_1200940 MONDO:0010788 http://www.w3.org/2004/02/skos/core#exactMatch レーバー遺伝性視神経症 Leber hereditary optic neuropathy https://monarchinitiative.org/MONDO:0010788 NANDO:1200950 http://nanbyodata.jp/ontology/NANDO_1200950 MONDO:0011391 http://www.w3.org/2004/02/skos/core#exactMatch 皮質下嚢胞を伴う巨脳性白質脳症 megalencephalic leukoencephalopathy with subcortical cysts https://monarchinitiative.org/MONDO:0011391 NANDO:1200959 http://nanbyodata.jp/ontology/NANDO_1200959 MONDO:0012455 http://www.w3.org/2004/02/skos/core#exactMatch 9q34欠失症候群 Kleefstra syndrome https://monarchinitiative.org/MONDO:0012455 NANDO:1200934 http://nanbyodata.jp/ontology/NANDO_1200934 MONDO:0013316 http://www.w3.org/2004/02/skos/core#exactMatch オカルト黄斑ジストロフィー occult macular dystrophy https://monarchinitiative.org/MONDO:0013316 NANDO:1200952 http://nanbyodata.jp/ontology/NANDO_1200952 MONDO:0014387 http://www.w3.org/2004/02/skos/core#exactMatch 卵巣機能障害を伴う進行性白質脳症 leukoencephalopathy, progressive, with ovarian failure https://monarchinitiative.org/MONDO:0014387 NANDO:1200971 http://nanbyodata.jp/ontology/NANDO_1200971 MONDO:0015515 http://www.w3.org/2004/02/skos/core#exactMatch 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://monarchinitiative.org/MONDO:0015515 NANDO:1200937 http://nanbyodata.jp/ontology/NANDO_1200937 MONDO:0015993 http://www.w3.org/2004/02/skos/core#exactMatch 錐体杆体ジストロフィー cone-rod dystrophy https://monarchinitiative.org/MONDO:0015993 NANDO:1200960 http://nanbyodata.jp/ontology/NANDO_1200960 MONDO:0016033 http://www.w3.org/2004/02/skos/core#exactMatch コルネリア・デランゲ症候群 Cornelia de Lange syndrome https://monarchinitiative.org/MONDO:0016033 NANDO:1200944 http://nanbyodata.jp/ontology/NANDO_1200944 MONDO:0016485 http://www.w3.org/2004/02/skos/core#exactMatch アッシャー症候群1型 Usher syndrome type 3 https://monarchinitiative.org/MONDO:0016485 NANDO:1200958 http://nanbyodata.jp/ontology/NANDO_1200958 MONDO:0016952 http://www.w3.org/2004/02/skos/core#exactMatch 1q部分重複症候群 partial duplication of the long arm of chromosome 1 https://monarchinitiative.org/MONDO:0016952 NANDO:1200969 http://nanbyodata.jp/ontology/NANDO_1200969 MONDO:0017716 http://www.w3.org/2004/02/skos/core#exactMatch カルニチン回路異常症 disorder of carnitine cycle and carnitine transport https://monarchinitiative.org/MONDO:0017716 NANDO:1200964 http://nanbyodata.jp/ontology/NANDO_1200964 MONDO:0017864 http://www.w3.org/2004/02/skos/core#exactMatch 先天性肺静脈狭窄症 congenital pulmonary veins atresia or stenosis https://monarchinitiative.org/MONDO:0017864 NANDO:1200933 http://nanbyodata.jp/ontology/NANDO_1200933 MONDO:0019353 http://www.w3.org/2004/02/skos/core#exactMatch シュタルガルト病 Stargardt disease https://monarchinitiative.org/MONDO:0019353 NANDO:1200956 http://nanbyodata.jp/ontology/NANDO_1200956 MONDO:0019448 http://www.w3.org/2004/02/skos/core#exactMatch 良性成人家族性ミオクロニーてんかん benign adult familial myoclonic epilepsy https://monarchinitiative.org/MONDO:0019448 NANDO:1200941 http://nanbyodata.jp/ontology/NANDO_1200941 MONDO:0019501 http://www.w3.org/2004/02/skos/core#exactMatch アッシャー症候群 Usher syndrome https://monarchinitiative.org/MONDO:0019501 NANDO:1200953 http://nanbyodata.jp/ontology/NANDO_1200953 MONDO:0020074 http://www.w3.org/2004/02/skos/core#exactMatch 進行性ミオクローヌスてんかん progressive myoclonus epilepsy https://monarchinitiative.org/MONDO:0020074 NANDO:1200963 http://nanbyodata.jp/ontology/NANDO_1200963 MONDO:0020398 http://www.w3.org/2004/02/skos/core#exactMatch 先天性僧帽弁狭窄症 congenital mitral stenosis https://monarchinitiative.org/MONDO:0020398 NANDO:1200932 http://nanbyodata.jp/ontology/NANDO_1200932 MONDO:0000390 http://www.w3.org/2004/02/skos/core#exactMatch "" vitelliform macular dystrophy https://monarchinitiative.org/MONDO:0000390 NANDO:1200963 http://nanbyodata.jp/ontology/NANDO_1200963 MONDO:0005852 http://www.w3.org/2004/02/skos/core#exactMatch "" mitral valve stenosis https://monarchinitiative.org/MONDO:0005852 NANDO:2200120 http://nanbyodata.jp/ontology/NANDO_2200120 "" "" "" "" "" NANDO:0000001 http://nanbyodata.jp/ontology/NANDO_0000001 "" "" "" "" "" NANDO:0000002 http://nanbyodata.jp/ontology/NANDO_0000002 "" "" "" "" "" NANDO:0000003 http://nanbyodata.jp/ontology/NANDO_0000003 "" "" "" "" "" NANDO:1000001 http://nanbyodata.jp/ontology/NANDO_1000001 "" "" "" "" "" NANDO:1100003 http://nanbyodata.jp/ontology/NANDO_1100003 "" "" "" "" "" NANDO:1100007 http://nanbyodata.jp/ontology/NANDO_1100007 "" "" "" "" "" NANDO:1100008 http://nanbyodata.jp/ontology/NANDO_1100008 "" "" "" "" "" NANDO:1100011 http://nanbyodata.jp/ontology/NANDO_1100011 "" "" "" "" "" NANDO:1100012 http://nanbyodata.jp/ontology/NANDO_1100012 "" "" "" "" "" NANDO:1100015 http://nanbyodata.jp/ontology/NANDO_1100015 "" "" "" "" "" NANDO:1200022 http://nanbyodata.jp/ontology/NANDO_1200022 "" "" "" "" "" NANDO:1200029 http://nanbyodata.jp/ontology/NANDO_1200029 "" "" "" "" "" NANDO:1200038 http://nanbyodata.jp/ontology/NANDO_1200038 "" "" "" "" "" NANDO:1200039 http://nanbyodata.jp/ontology/NANDO_1200039 "" "" "" "" "" NANDO:1200040 http://nanbyodata.jp/ontology/NANDO_1200040 "" "" "" "" "" NANDO:1200047 http://nanbyodata.jp/ontology/NANDO_1200047 "" "" "" "" "" NANDO:1200049 http://nanbyodata.jp/ontology/NANDO_1200049 "" "" "" "" "" NANDO:1200060 http://nanbyodata.jp/ontology/NANDO_1200060 "" "" "" "" "" NANDO:1200064 http://nanbyodata.jp/ontology/NANDO_1200064 "" "" "" "" "" NANDO:1200076 http://nanbyodata.jp/ontology/NANDO_1200076 "" "" "" "" "" NANDO:1200087 http://nanbyodata.jp/ontology/NANDO_1200087 "" "" "" "" "" NANDO:1200088 http://nanbyodata.jp/ontology/NANDO_1200088 "" "" "" "" "" NANDO:1200089 http://nanbyodata.jp/ontology/NANDO_1200089 "" "" "" "" "" NANDO:1200090 http://nanbyodata.jp/ontology/NANDO_1200090 "" "" "" "" "" NANDO:1200091 http://nanbyodata.jp/ontology/NANDO_1200091 "" "" "" "" "" NANDO:1200092 http://nanbyodata.jp/ontology/NANDO_1200092 "" "" "" "" "" NANDO:1200093 http://nanbyodata.jp/ontology/NANDO_1200093 "" "" "" "" "" NANDO:1200112 http://nanbyodata.jp/ontology/NANDO_1200112 "" "" "" "" "" NANDO:1200113 http://nanbyodata.jp/ontology/NANDO_1200113 "" "" "" "" "" NANDO:1200114 http://nanbyodata.jp/ontology/NANDO_1200114 "" "" "" "" "" NANDO:1200121 http://nanbyodata.jp/ontology/NANDO_1200121 "" "" "" "" "" NANDO:1200122 http://nanbyodata.jp/ontology/NANDO_1200122 "" "" "" "" "" NANDO:1200123 http://nanbyodata.jp/ontology/NANDO_1200123 "" "" "" "" "" NANDO:1200131 http://nanbyodata.jp/ontology/NANDO_1200131 "" "" "" "" "" NANDO:1200132 http://nanbyodata.jp/ontology/NANDO_1200132 "" "" "" "" "" NANDO:1200140 http://nanbyodata.jp/ontology/NANDO_1200140 "" "" "" "" "" NANDO:1200141 http://nanbyodata.jp/ontology/NANDO_1200141 "" "" "" "" "" NANDO:1200145 http://nanbyodata.jp/ontology/NANDO_1200145 "" "" "" "" "" NANDO:1200149 http://nanbyodata.jp/ontology/NANDO_1200149 "" "" "" "" "" NANDO:1200151 http://nanbyodata.jp/ontology/NANDO_1200151 "" "" "" "" "" NANDO:1200156 http://nanbyodata.jp/ontology/NANDO_1200156 "" "" "" "" "" NANDO:1200158 http://nanbyodata.jp/ontology/NANDO_1200158 "" "" "" "" "" NANDO:1200159 http://nanbyodata.jp/ontology/NANDO_1200159 "" "" "" "" "" NANDO:1200160 http://nanbyodata.jp/ontology/NANDO_1200160 "" "" "" "" "" NANDO:1200167 http://nanbyodata.jp/ontology/NANDO_1200167 "" "" "" "" "" NANDO:1200169 http://nanbyodata.jp/ontology/NANDO_1200169 "" "" "" "" "" NANDO:1200170 http://nanbyodata.jp/ontology/NANDO_1200170 "" "" "" "" "" NANDO:1200171 http://nanbyodata.jp/ontology/NANDO_1200171 "" "" "" "" "" NANDO:1200172 http://nanbyodata.jp/ontology/NANDO_1200172 "" "" "" "" "" NANDO:1200178 http://nanbyodata.jp/ontology/NANDO_1200178 "" "" "" "" "" NANDO:1200179 http://nanbyodata.jp/ontology/NANDO_1200179 "" "" "" "" "" NANDO:1200181 http://nanbyodata.jp/ontology/NANDO_1200181 "" "" "" "" "" NANDO:1200182 http://nanbyodata.jp/ontology/NANDO_1200182 "" "" "" "" "" NANDO:1200184 http://nanbyodata.jp/ontology/NANDO_1200184 "" "" "" "" "" NANDO:1200185 http://nanbyodata.jp/ontology/NANDO_1200185 "" "" "" "" "" NANDO:1200188 http://nanbyodata.jp/ontology/NANDO_1200188 "" "" "" "" "" NANDO:1200197 http://nanbyodata.jp/ontology/NANDO_1200197 "" "" "" "" "" NANDO:1200199 http://nanbyodata.jp/ontology/NANDO_1200199 "" "" "" "" "" NANDO:1200200 http://nanbyodata.jp/ontology/NANDO_1200200 "" "" "" "" "" NANDO:1200201 http://nanbyodata.jp/ontology/NANDO_1200201 "" "" "" "" "" NANDO:1200202 http://nanbyodata.jp/ontology/NANDO_1200202 "" "" "" "" "" NANDO:1200203 http://nanbyodata.jp/ontology/NANDO_1200203 "" "" "" "" "" NANDO:1200204 http://nanbyodata.jp/ontology/NANDO_1200204 "" "" "" "" "" NANDO:1200210 http://nanbyodata.jp/ontology/NANDO_1200210 "" "" "" "" "" NANDO:1200213 http://nanbyodata.jp/ontology/NANDO_1200213 "" "" "" "" "" NANDO:1200221 http://nanbyodata.jp/ontology/NANDO_1200221 "" "" "" "" "" NANDO:1200237 http://nanbyodata.jp/ontology/NANDO_1200237 "" "" "" "" "" NANDO:1200241 http://nanbyodata.jp/ontology/NANDO_1200241 "" "" "" "" "" NANDO:1200242 http://nanbyodata.jp/ontology/NANDO_1200242 "" "" "" "" "" NANDO:1200247 http://nanbyodata.jp/ontology/NANDO_1200247 "" "" "" "" "" NANDO:1200248 http://nanbyodata.jp/ontology/NANDO_1200248 "" "" "" "" "" NANDO:1200249 http://nanbyodata.jp/ontology/NANDO_1200249 "" "" "" "" "" NANDO:1200250 http://nanbyodata.jp/ontology/NANDO_1200250 "" "" "" "" "" NANDO:1200252 http://nanbyodata.jp/ontology/NANDO_1200252 "" "" "" "" "" NANDO:1200253 http://nanbyodata.jp/ontology/NANDO_1200253 "" "" "" "" "" NANDO:1200254 http://nanbyodata.jp/ontology/NANDO_1200254 "" "" "" "" "" NANDO:1200255 http://nanbyodata.jp/ontology/NANDO_1200255 "" "" "" "" "" NANDO:1200256 http://nanbyodata.jp/ontology/NANDO_1200256 "" "" "" "" "" NANDO:1200257 http://nanbyodata.jp/ontology/NANDO_1200257 "" "" "" "" "" NANDO:1200259 http://nanbyodata.jp/ontology/NANDO_1200259 "" "" "" "" "" NANDO:1200260 http://nanbyodata.jp/ontology/NANDO_1200260 "" "" "" "" "" NANDO:1200268 http://nanbyodata.jp/ontology/NANDO_1200268 "" "" "" "" "" NANDO:1200269 http://nanbyodata.jp/ontology/NANDO_1200269 "" "" "" "" "" NANDO:1200271 http://nanbyodata.jp/ontology/NANDO_1200271 "" "" "" "" "" NANDO:1200273 http://nanbyodata.jp/ontology/NANDO_1200273 "" "" "" "" "" NANDO:1200281 http://nanbyodata.jp/ontology/NANDO_1200281 "" "" "" "" "" NANDO:1200285 http://nanbyodata.jp/ontology/NANDO_1200285 "" "" "" "" "" NANDO:1200287 http://nanbyodata.jp/ontology/NANDO_1200287 "" "" "" "" "" NANDO:1200289 http://nanbyodata.jp/ontology/NANDO_1200289 "" "" "" "" "" NANDO:1200290 http://nanbyodata.jp/ontology/NANDO_1200290 "" "" "" "" "" NANDO:1200291 http://nanbyodata.jp/ontology/NANDO_1200291 "" "" "" "" "" NANDO:1200297 http://nanbyodata.jp/ontology/NANDO_1200297 "" "" "" "" "" NANDO:1200298 http://nanbyodata.jp/ontology/NANDO_1200298 "" "" "" "" "" NANDO:1200299 http://nanbyodata.jp/ontology/NANDO_1200299 "" "" "" "" "" NANDO:1200300 http://nanbyodata.jp/ontology/NANDO_1200300 "" "" "" "" "" NANDO:1200303 http://nanbyodata.jp/ontology/NANDO_1200303 "" "" "" "" "" NANDO:1200311 http://nanbyodata.jp/ontology/NANDO_1200311 "" "" "" "" "" NANDO:1200312 http://nanbyodata.jp/ontology/NANDO_1200312 "" "" "" "" "" NANDO:1200313 http://nanbyodata.jp/ontology/NANDO_1200313 "" "" "" "" "" NANDO:1200314 http://nanbyodata.jp/ontology/NANDO_1200314 "" "" "" "" "" NANDO:1200335 http://nanbyodata.jp/ontology/NANDO_1200335 "" "" "" "" "" NANDO:1200342 http://nanbyodata.jp/ontology/NANDO_1200342 "" "" "" "" "" NANDO:1200348 http://nanbyodata.jp/ontology/NANDO_1200348 "" "" "" "" "" NANDO:1200370 http://nanbyodata.jp/ontology/NANDO_1200370 "" "" "" "" "" NANDO:1200374 http://nanbyodata.jp/ontology/NANDO_1200374 "" "" "" "" "" NANDO:1200380 http://nanbyodata.jp/ontology/NANDO_1200380 "" "" "" "" "" NANDO:1200382 http://nanbyodata.jp/ontology/NANDO_1200382 "" "" "" "" "" NANDO:1200383 http://nanbyodata.jp/ontology/NANDO_1200383 "" "" "" "" "" NANDO:1200384 http://nanbyodata.jp/ontology/NANDO_1200384 "" "" "" "" "" NANDO:1200389 http://nanbyodata.jp/ontology/NANDO_1200389 "" "" "" "" "" NANDO:1200391 http://nanbyodata.jp/ontology/NANDO_1200391 "" "" "" "" "" NANDO:1200392 http://nanbyodata.jp/ontology/NANDO_1200392 "" "" "" "" "" NANDO:1200393 http://nanbyodata.jp/ontology/NANDO_1200393 "" "" "" "" "" NANDO:1200407 http://nanbyodata.jp/ontology/NANDO_1200407 "" "" "" "" "" NANDO:1200408 http://nanbyodata.jp/ontology/NANDO_1200408 "" "" "" "" "" NANDO:1200409 http://nanbyodata.jp/ontology/NANDO_1200409 "" "" "" "" "" NANDO:1200412 http://nanbyodata.jp/ontology/NANDO_1200412 "" "" "" "" "" NANDO:1200413 http://nanbyodata.jp/ontology/NANDO_1200413 "" "" "" "" "" NANDO:1200414 http://nanbyodata.jp/ontology/NANDO_1200414 "" "" "" "" "" NANDO:1200417 http://nanbyodata.jp/ontology/NANDO_1200417 "" "" "" "" "" NANDO:1200418 http://nanbyodata.jp/ontology/NANDO_1200418 "" "" "" "" "" NANDO:1200432 http://nanbyodata.jp/ontology/NANDO_1200432 "" "" "" "" "" NANDO:1200433 http://nanbyodata.jp/ontology/NANDO_1200433 "" "" "" "" "" NANDO:1200434 http://nanbyodata.jp/ontology/NANDO_1200434 "" "" "" "" "" NANDO:1200435 http://nanbyodata.jp/ontology/NANDO_1200435 "" "" "" "" "" NANDO:1200436 http://nanbyodata.jp/ontology/NANDO_1200436 "" "" "" "" "" NANDO:1200438 http://nanbyodata.jp/ontology/NANDO_1200438 "" "" "" "" "" NANDO:1200443 http://nanbyodata.jp/ontology/NANDO_1200443 "" "" "" "" "" NANDO:1200448 http://nanbyodata.jp/ontology/NANDO_1200448 "" "" "" "" "" NANDO:1200452 http://nanbyodata.jp/ontology/NANDO_1200452 "" "" "" "" "" NANDO:1200453 http://nanbyodata.jp/ontology/NANDO_1200453 "" "" "" "" "" NANDO:1200455 http://nanbyodata.jp/ontology/NANDO_1200455 "" "" "" "" "" NANDO:1200459 http://nanbyodata.jp/ontology/NANDO_1200459 "" "" "" "" "" NANDO:1200475 http://nanbyodata.jp/ontology/NANDO_1200475 "" "" "" "" "" NANDO:1200484 http://nanbyodata.jp/ontology/NANDO_1200484 "" "" "" "" "" NANDO:1200496 http://nanbyodata.jp/ontology/NANDO_1200496 "" "" "" "" "" NANDO:1200505 http://nanbyodata.jp/ontology/NANDO_1200505 "" "" "" "" "" NANDO:1200508 http://nanbyodata.jp/ontology/NANDO_1200508 "" "" "" "" "" NANDO:1200519 http://nanbyodata.jp/ontology/NANDO_1200519 "" "" "" "" "" NANDO:1200521 http://nanbyodata.jp/ontology/NANDO_1200521 "" "" "" "" "" NANDO:1200538 http://nanbyodata.jp/ontology/NANDO_1200538 "" "" "" "" "" NANDO:1200546 http://nanbyodata.jp/ontology/NANDO_1200546 "" "" "" "" "" NANDO:1200557 http://nanbyodata.jp/ontology/NANDO_1200557 "" "" "" "" "" NANDO:1200561 http://nanbyodata.jp/ontology/NANDO_1200561 "" "" "" "" "" NANDO:1200570 http://nanbyodata.jp/ontology/NANDO_1200570 "" "" "" "" "" NANDO:1200571 http://nanbyodata.jp/ontology/NANDO_1200571 "" "" "" "" "" NANDO:1200572 http://nanbyodata.jp/ontology/NANDO_1200572 "" "" "" "" "" NANDO:1200573 http://nanbyodata.jp/ontology/NANDO_1200573 "" "" "" "" "" NANDO:1200590 http://nanbyodata.jp/ontology/NANDO_1200590 "" "" "" "" "" NANDO:1200594 http://nanbyodata.jp/ontology/NANDO_1200594 "" "" "" "" "" NANDO:1200601 http://nanbyodata.jp/ontology/NANDO_1200601 "" "" "" "" "" NANDO:1200619 http://nanbyodata.jp/ontology/NANDO_1200619 "" "" "" "" "" NANDO:1200624 http://nanbyodata.jp/ontology/NANDO_1200624 "" "" "" "" "" NANDO:1200629 http://nanbyodata.jp/ontology/NANDO_1200629 "" "" "" "" "" NANDO:1200636 http://nanbyodata.jp/ontology/NANDO_1200636 "" "" "" "" "" NANDO:1200639 http://nanbyodata.jp/ontology/NANDO_1200639 "" "" "" "" "" NANDO:1200652 http://nanbyodata.jp/ontology/NANDO_1200652 "" "" "" "" "" NANDO:1200673 http://nanbyodata.jp/ontology/NANDO_1200673 "" "" "" "" "" NANDO:1200674 http://nanbyodata.jp/ontology/NANDO_1200674 "" "" "" "" "" NANDO:1200694 http://nanbyodata.jp/ontology/NANDO_1200694 "" "" "" "" "" NANDO:1200695 http://nanbyodata.jp/ontology/NANDO_1200695 "" "" "" "" "" NANDO:1200696 http://nanbyodata.jp/ontology/NANDO_1200696 "" "" "" "" "" NANDO:1200697 http://nanbyodata.jp/ontology/NANDO_1200697 "" "" "" "" "" NANDO:1200700 http://nanbyodata.jp/ontology/NANDO_1200700 "" "" "" "" "" NANDO:1200702 http://nanbyodata.jp/ontology/NANDO_1200702 "" "" "" "" "" NANDO:1200703 http://nanbyodata.jp/ontology/NANDO_1200703 "" "" "" "" "" NANDO:1200715 http://nanbyodata.jp/ontology/NANDO_1200715 "" "" "" "" "" NANDO:1200716 http://nanbyodata.jp/ontology/NANDO_1200716 "" "" "" "" "" NANDO:1200724 http://nanbyodata.jp/ontology/NANDO_1200724 "" "" "" "" "" NANDO:1200727 http://nanbyodata.jp/ontology/NANDO_1200727 "" "" "" "" "" NANDO:1200728 http://nanbyodata.jp/ontology/NANDO_1200728 "" "" "" "" "" NANDO:1200729 http://nanbyodata.jp/ontology/NANDO_1200729 "" "" "" "" "" NANDO:1200730 http://nanbyodata.jp/ontology/NANDO_1200730 "" "" "" "" "" NANDO:1200731 http://nanbyodata.jp/ontology/NANDO_1200731 "" "" "" "" "" NANDO:1200732 http://nanbyodata.jp/ontology/NANDO_1200732 "" "" "" "" "" NANDO:1200733 http://nanbyodata.jp/ontology/NANDO_1200733 "" "" "" "" "" NANDO:1200734 http://nanbyodata.jp/ontology/NANDO_1200734 "" "" "" "" "" NANDO:1200735 http://nanbyodata.jp/ontology/NANDO_1200735 "" "" "" "" "" NANDO:1200736 http://nanbyodata.jp/ontology/NANDO_1200736 "" "" "" "" "" NANDO:1200737 http://nanbyodata.jp/ontology/NANDO_1200737 "" "" "" "" "" NANDO:1200738 http://nanbyodata.jp/ontology/NANDO_1200738 "" "" "" "" "" NANDO:1200740 http://nanbyodata.jp/ontology/NANDO_1200740 "" "" "" "" "" NANDO:1200741 http://nanbyodata.jp/ontology/NANDO_1200741 "" "" "" "" "" NANDO:1200753 http://nanbyodata.jp/ontology/NANDO_1200753 "" "" "" "" "" NANDO:1200754 http://nanbyodata.jp/ontology/NANDO_1200754 "" "" "" "" "" NANDO:1200761 http://nanbyodata.jp/ontology/NANDO_1200761 "" "" "" "" "" NANDO:1200762 http://nanbyodata.jp/ontology/NANDO_1200762 "" "" "" "" "" NANDO:1200777 http://nanbyodata.jp/ontology/NANDO_1200777 "" "" "" "" "" NANDO:1200839 http://nanbyodata.jp/ontology/NANDO_1200839 "" "" "" "" "" NANDO:1200842 http://nanbyodata.jp/ontology/NANDO_1200842 "" "" "" "" "" NANDO:1200843 http://nanbyodata.jp/ontology/NANDO_1200843 "" "" "" "" "" NANDO:1200845 http://nanbyodata.jp/ontology/NANDO_1200845 "" "" "" "" "" NANDO:1200855 http://nanbyodata.jp/ontology/NANDO_1200855 "" "" "" "" "" NANDO:1200865 http://nanbyodata.jp/ontology/NANDO_1200865 "" "" "" "" "" NANDO:1200872 http://nanbyodata.jp/ontology/NANDO_1200872 "" "" "" "" "" NANDO:1200879 http://nanbyodata.jp/ontology/NANDO_1200879 "" "" "" "" "" NANDO:1200880 http://nanbyodata.jp/ontology/NANDO_1200880 "" "" "" "" "" NANDO:1200882 http://nanbyodata.jp/ontology/NANDO_1200882 "" "" "" "" "" NANDO:1200883 http://nanbyodata.jp/ontology/NANDO_1200883 "" "" "" "" "" NANDO:1200893 http://nanbyodata.jp/ontology/NANDO_1200893 "" "" "" "" "" NANDO:1200894 http://nanbyodata.jp/ontology/NANDO_1200894 "" "" "" "" "" NANDO:1200895 http://nanbyodata.jp/ontology/NANDO_1200895 "" "" "" "" "" NANDO:1200900 http://nanbyodata.jp/ontology/NANDO_1200900 "" "" "" "" "" NANDO:1200902 http://nanbyodata.jp/ontology/NANDO_1200902 "" "" "" "" "" NANDO:1200904 http://nanbyodata.jp/ontology/NANDO_1200904 "" "" "" "" "" NANDO:1200905 http://nanbyodata.jp/ontology/NANDO_1200905 "" "" "" "" "" NANDO:1200906 http://nanbyodata.jp/ontology/NANDO_1200906 "" "" "" "" "" NANDO:1200907 http://nanbyodata.jp/ontology/NANDO_1200907 "" "" "" "" "" NANDO:1200908 http://nanbyodata.jp/ontology/NANDO_1200908 "" "" "" "" "" NANDO:1200912 http://nanbyodata.jp/ontology/NANDO_1200912 "" "" "" "" "" NANDO:1200914 http://nanbyodata.jp/ontology/NANDO_1200914 "" "" "" "" "" NANDO:1200915 http://nanbyodata.jp/ontology/NANDO_1200915 "" "" "" "" "" NANDO:1200916 http://nanbyodata.jp/ontology/NANDO_1200916 "" "" "" "" "" NANDO:1200917 http://nanbyodata.jp/ontology/NANDO_1200917 "" "" "" "" "" NANDO:1200920 http://nanbyodata.jp/ontology/NANDO_1200920 "" "" "" "" "" NANDO:1200926 http://nanbyodata.jp/ontology/NANDO_1200926 "" "" "" "" "" NANDO:1200927 http://nanbyodata.jp/ontology/NANDO_1200927 "" "" "" "" "" NANDO:1200935 http://nanbyodata.jp/ontology/NANDO_1200935 "" "" "" "" "" NANDO:1200945 http://nanbyodata.jp/ontology/NANDO_1200945 "" "" "" "" "" NANDO:1200946 http://nanbyodata.jp/ontology/NANDO_1200946 "" "" "" "" "" NANDO:1200947 http://nanbyodata.jp/ontology/NANDO_1200947 "" "" "" "" "" NANDO:1200949 http://nanbyodata.jp/ontology/NANDO_1200949 "" "" "" "" "" NANDO:1200951 http://nanbyodata.jp/ontology/NANDO_1200951 "" "" "" "" "" NANDO:1200957 http://nanbyodata.jp/ontology/NANDO_1200957 "" "" "" "" "" NANDO:1200965 http://nanbyodata.jp/ontology/NANDO_1200965 "" "" "" "" "" NANDO:1200966 http://nanbyodata.jp/ontology/NANDO_1200966 "" "" "" "" "" NANDO:1200968 http://nanbyodata.jp/ontology/NANDO_1200968 "" "" "" "" "" NANDO:1201032 http://nanbyodata.jp/ontology/NANDO_1201032 MONDO:0000456 http://www.w3.org/2004/02/skos/core#exactMatch 脳クレアチン欠乏症候群 cerebral creatine deficiency syndrome https://monarchinitiative.org/MONDO:0000456 NANDO:1201018 http://nanbyodata.jp/ontology/NANDO_1201018 MONDO:0002413 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病I型 glycogen storage disease I https://monarchinitiative.org/MONDO:0002413 NANDO:1201063 http://nanbyodata.jp/ontology/NANDO_1201063 MONDO:0007097 http://www.w3.org/2004/02/skos/core#exactMatch フィンランド型アミロイドーシス Finnish type amyloidosis https://monarchinitiative.org/MONDO:0007097 NANDO:1201060 http://nanbyodata.jp/ontology/NANDO_1201060 MONDO:0007100 http://www.w3.org/2004/02/skos/core#closeMatch 家族性アミロイドニューロパチー familial amyloid neuropathy https://monarchinitiative.org/MONDO:0007100 NANDO:1201007 http://nanbyodata.jp/ontology/NANDO_1201007 MONDO:0008310 http://www.w3.org/2004/02/skos/core#exactMatch ハッチンソン・ギルフォード早老症候群 Hutchinson-Gilford progeria syndrome https://monarchinitiative.org/MONDO:0008310 NANDO:1200987 http://nanbyodata.jp/ontology/NANDO_1200987 MONDO:0008760 http://www.w3.org/2004/02/skos/core#exactMatch β-ケトチオラーゼ欠損症 beta-ketothiolase deficiency https://monarchinitiative.org/MONDO:0008760 NANDO:1201006 http://nanbyodata.jp/ontology/NANDO_1201006 MONDO:0008777 http://www.w3.org/2004/02/skos/core#exactMatch 膠様滴状角膜ジストロフィー gelatinous drop-like corneal dystrophy https://monarchinitiative.org/MONDO:0008777 NANDO:1200972 http://nanbyodata.jp/ontology/NANDO_1200972 MONDO:0008918 http://www.w3.org/2004/02/skos/core#exactMatch 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://monarchinitiative.org/MONDO:0008918 NANDO:1200973 http://nanbyodata.jp/ontology/NANDO_1200973 MONDO:0008919 http://www.w3.org/2004/02/skos/core#exactMatch 全身性原発性カルニチン欠乏症 systemic primary carnitine deficiency disease https://monarchinitiative.org/MONDO:0008919 NANDO:1201059 http://nanbyodata.jp/ontology/NANDO_1201059 MONDO:0009039 http://www.w3.org/2004/02/skos/core#exactMatch バラー・ゲロルト症候群 Baller-Gerold syndrome https://monarchinitiative.org/MONDO:0009039 NANDO:1201021 http://nanbyodata.jp/ontology/NANDO_1201021 MONDO:0009061 http://www.w3.org/2004/02/skos/core#closeMatch 嚢胞性線維症 cystic fibrosis https://monarchinitiative.org/MONDO:0009061 NANDO:1201019 http://nanbyodata.jp/ontology/NANDO_1201019 MONDO:0009291 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病III glycogen storage disease III https://monarchinitiative.org/MONDO:0009291 NANDO:1201039 http://nanbyodata.jp/ontology/NANDO_1201039 MONDO:0009352 http://www.w3.org/2004/02/skos/core#exactMatch 古典型ホモシスチン尿症 classic homocystinuria https://monarchinitiative.org/MONDO:0009352 NANDO:1201041 http://nanbyodata.jp/ontology/NANDO_1201041 MONDO:0009353 http://www.w3.org/2004/02/skos/core#exactMatch メチレンテトラヒドロ葉酸還元酵素欠損によるホモシスチン尿症 homocystinuria due to methylene tetrahydrofolate reductase deficiency https://monarchinitiative.org/MONDO:0009353 NANDO:1200990 http://nanbyodata.jp/ontology/NANDO_1200990 MONDO:0009610 http://www.w3.org/2004/02/skos/core#exactMatch 3-メチルグルタコン酸尿症1型 3-methylglutaconic aciduria type 1 https://monarchinitiative.org/MONDO:0009610 NANDO:1201057 http://nanbyodata.jp/ontology/NANDO_1201057 MONDO:0009689 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋無力症候群6 congenital myasthenic syndrome 6 https://monarchinitiative.org/MONDO:0009689 NANDO:1201036 http://nanbyodata.jp/ontology/NANDO_1201036 MONDO:0009728 http://www.w3.org/2004/02/skos/core#closeMatch ネフロン癆1 nephronophthisis 1 https://monarchinitiative.org/MONDO:0009728 NANDO:1200992 http://nanbyodata.jp/ontology/NANDO_1200992 MONDO:0009787 http://www.w3.org/2004/02/skos/core#exactMatch 3-メチルグルタコン酸尿症3型 3-methylglutaconic aciduria type 3 https://monarchinitiative.org/MONDO:0009787 NANDO:1201058 http://nanbyodata.jp/ontology/NANDO_1201058 MONDO:0009955 http://www.w3.org/2004/02/skos/core#exactMatch ラパデリノ症候群 rapadilino syndrome https://monarchinitiative.org/MONDO:0009955 NANDO:1201040 http://nanbyodata.jp/ontology/NANDO_1201040 MONDO:0010184 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸尿症およびホモシスチン尿症cblC型 methylmalonic aciduria and homocystinuria type cblC https://monarchinitiative.org/MONDO:0010184 NANDO:1201035 http://nanbyodata.jp/ontology/NANDO_1201035 MONDO:0010305 http://www.w3.org/2004/02/skos/core#exactMatch クレアチントランスポーター欠損症 creatine transporter deficiency https://monarchinitiative.org/MONDO:0010305 NANDO:1200991 http://nanbyodata.jp/ontology/NANDO_1200991 MONDO:0010543 http://www.w3.org/2004/02/skos/core#exactMatch バース症候群 Barth syndrome https://monarchinitiative.org/MONDO:0010543 NANDO:1201044 http://nanbyodata.jp/ontology/NANDO_1201044 MONDO:0011156 http://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞2型 progressive familial intrahepatic cholestasis type 2 https://monarchinitiative.org/MONDO:0011156 NANDO:1201045 http://nanbyodata.jp/ontology/NANDO_1201045 MONDO:0011214 http://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞3型 progressive familial intrahepatic cholestasis type 3 https://monarchinitiative.org/MONDO:0011214 NANDO:1201056 http://nanbyodata.jp/ontology/NANDO_1201056 MONDO:0011281 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋無力症候群5 congenital myasthenic syndrome 5 https://monarchinitiative.org/MONDO:0011281 NANDO:1200980 http://nanbyodata.jp/ontology/NANDO_1200980 MONDO:0011326 http://www.w3.org/2004/02/skos/core#closeMatch シトルリン血症, II型, 成人発症 citrullinemia, type II, adult-onset https://monarchinitiative.org/MONDO:0011326 NANDO:1201003 http://nanbyodata.jp/ontology/NANDO_1201003 MONDO:0011340 http://www.w3.org/2004/02/skos/core#exactMatch 先天性気管狭窄症 congenital tracheal stenosis https://monarchinitiative.org/MONDO:0011340 NANDO:1200979 http://nanbyodata.jp/ontology/NANDO_1200979 MONDO:0011601 http://www.w3.org/2004/02/skos/core#exactMatch シトリン欠損による新生児肝内胆汁うっ滞 neonatal intrahepatic cholestasis due to citrin deficiency https://monarchinitiative.org/MONDO:0011601 NANDO:1200984 http://nanbyodata.jp/ontology/NANDO_1200984 MONDO:0011612 http://www.w3.org/2004/02/skos/core#exactMatch グリシン脳症 glycine encephalopathy https://monarchinitiative.org/MONDO:0011612 NANDO:1200988 http://nanbyodata.jp/ontology/NANDO_1200988 MONDO:0012084 http://www.w3.org/2004/02/skos/core#exactMatch 芳香族L-アミノ酸脱炭酸酵素欠損症 aromatic L-amino acid decarboxylase deficiency https://monarchinitiative.org/MONDO:0012084 NANDO:1201009 http://nanbyodata.jp/ontology/NANDO_1201009 MONDO:0012105 http://www.w3.org/2004/02/skos/core#closeMatch 多発血管炎性肉芽腫症 granulomatosis with polyangiitis https://monarchinitiative.org/MONDO:0012105 NANDO:1200974 http://nanbyodata.jp/ontology/NANDO_1200974 MONDO:0012172 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア三頭酵素欠損症 mitochondrial trifunctional protein deficiency https://monarchinitiative.org/MONDO:0012172 NANDO:1200983 http://nanbyodata.jp/ontology/NANDO_1200983 MONDO:0012465 http://www.w3.org/2004/02/skos/core#exactMatch 先天性グリコシルホスファチジルイノシトール欠損症 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency https://monarchinitiative.org/MONDO:0012465 NANDO:1200982 http://nanbyodata.jp/ontology/NANDO_1200982 MONDO:0012994 http://www.w3.org/2004/02/skos/core#exactMatch セピアプテリン還元酵素欠損によるドーパ反応性ジストニア dopa-responsive dystonia due to sepiapterin reductase deficiency https://monarchinitiative.org/MONDO:0012994 NANDO:1201033 http://nanbyodata.jp/ontology/NANDO_1201033 MONDO:0012996 http://www.w3.org/2004/02/skos/core#exactMatch AGAT欠損症 AGAT deficiency https://monarchinitiative.org/MONDO:0012996 NANDO:1201034 http://nanbyodata.jp/ontology/NANDO_1201034 MONDO:0012999 http://www.w3.org/2004/02/skos/core#exactMatch GAMT欠損症 guanidinoacetate methyltransferase deficiency https://monarchinitiative.org/MONDO:0012999 NANDO:1201037 http://nanbyodata.jp/ontology/NANDO_1201037 MONDO:0014252 http://www.w3.org/2004/02/skos/core#exactMatch 家族性低βリポタンパク血症1(ホモ接合体) familial hypobetalipoproteinemia 1 https://monarchinitiative.org/MONDO:0014252 NANDO:1200995 http://nanbyodata.jp/ontology/NANDO_1200995 MONDO:0014306 http://www.w3.org/2004/02/skos/core#exactMatch ADA2欠損による血管炎 vasculitis due to ADA2 deficiency https://monarchinitiative.org/MONDO:0014306 NANDO:1201046 http://nanbyodata.jp/ontology/NANDO_1201046 MONDO:0014381 http://www.w3.org/2004/02/skos/core#exactMatch 胆汁うっ滞, 進行性家族性肝内, 4 cholestasis, progressive familial intrahepatic, 4 https://monarchinitiative.org/MONDO:0014381 NANDO:1200994 http://nanbyodata.jp/ontology/NANDO_1200994 MONDO:0014472 http://www.w3.org/2004/02/skos/core#exactMatch NLRC4異常症 periodic fever-infantile enterocolitis-autoinflammatory syndrome https://monarchinitiative.org/MONDO:0014472 NANDO:1201047 http://nanbyodata.jp/ontology/NANDO_1201047 MONDO:0014884 http://www.w3.org/2004/02/skos/core#exactMatch 胆汁うっ滞, 進行性家族性肝内, 5 cholestasis, progressive familial intrahepatic, 5 https://monarchinitiative.org/MONDO:0014884 NANDO:1201051 http://nanbyodata.jp/ontology/NANDO_1201051 MONDO:0015375 http://www.w3.org/2004/02/skos/core#exactMatch 口-顔-指症候群 orofaciodigital syndrome https://monarchinitiative.org/MONDO:0015375 NANDO:1201004 http://nanbyodata.jp/ontology/NANDO_1201004 MONDO:0015395 http://www.w3.org/2004/02/skos/core#exactMatch 先天性声門下狭窄症 congenital subglottic stenosis https://monarchinitiative.org/MONDO:0015395 NANDO:1201042 http://nanbyodata.jp/ontology/NANDO_1201042 MONDO:0015762 http://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞 progressive familial intrahepatic cholestasis https://monarchinitiative.org/MONDO:0015762 NANDO:1201010 http://nanbyodata.jp/ontology/NANDO_1201010 MONDO:0016356 http://www.w3.org/2004/02/skos/core#exactMatch びまん皮膚硬化型全身性強皮症 diffuse cutaneous systemic sclerosis https://monarchinitiative.org/MONDO:0016356 NANDO:1201011 http://nanbyodata.jp/ontology/NANDO_1201011 MONDO:0016358 http://www.w3.org/2004/02/skos/core#exactMatch 限局皮膚硬化型全身性強皮症 limited cutaneous systemic sclerosis https://monarchinitiative.org/MONDO:0016358 NANDO:1200978 http://nanbyodata.jp/ontology/NANDO_1200978 MONDO:0016602 http://www.w3.org/2004/02/skos/core#exactMatch シトリン欠損症 citrin deficiency https://monarchinitiative.org/MONDO:0016602 NANDO:1200980 http://nanbyodata.jp/ontology/NANDO_1200980 MONDO:0016603 http://www.w3.org/2004/02/skos/core#exactMatch シトルリン血症II型 citrullinemia type II https://monarchinitiative.org/MONDO:0016603 NANDO:1200998 http://nanbyodata.jp/ontology/NANDO_1200998 MONDO:0017198 http://www.w3.org/2004/02/skos/core#exactMatch 大理石骨病 osteopetrosis https://monarchinitiative.org/MONDO:0017198 NANDO:1200985 http://nanbyodata.jp/ontology/NANDO_1200985 MONDO:0017353 http://www.w3.org/2004/02/skos/core#exactMatch 新生児型非ケトーシス型高グリシン血症 neonatal glycine encephalopathy https://monarchinitiative.org/MONDO:0017353 NANDO:1200986 http://nanbyodata.jp/ontology/NANDO_1200986 MONDO:0017354 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型非ケトーシス型高グリシン血症 infantile glycine encephalopathy https://monarchinitiative.org/MONDO:0017354 NANDO:1200989 http://nanbyodata.jp/ontology/NANDO_1200989 MONDO:0017359 http://www.w3.org/2004/02/skos/core#exactMatch 3-メチルグルタコン酸尿症 3-methylglutaconic aciduria https://monarchinitiative.org/MONDO:0017359 NANDO:1201049 http://nanbyodata.jp/ontology/NANDO_1201049 MONDO:0017842 http://www.w3.org/2004/02/skos/core#exactMatch Senior-Loken症候群 Senior-Loken syndrome https://monarchinitiative.org/MONDO:0017842 NANDO:1200996 http://nanbyodata.jp/ontology/NANDO_1200996 MONDO:0018866 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群 Aicardi-Goutieres syndrome https://monarchinitiative.org/MONDO:0018866 NANDO:1201036 http://nanbyodata.jp/ontology/NANDO_1201036 MONDO:0019005 http://www.w3.org/2004/02/skos/core#exactMatch ネフロン癆 nephronophthisis https://monarchinitiative.org/MONDO:0019005 NANDO:1201000 http://nanbyodata.jp/ontology/NANDO_1201000 MONDO:0019503 http://www.w3.org/2004/02/skos/core#exactMatch 前眼部形成不全 anterior segment dysgenesis https://monarchinitiative.org/MONDO:0019503 NANDO:1201062 http://nanbyodata.jp/ontology/NANDO_1201062 MONDO:0019731 http://www.w3.org/2004/02/skos/core#exactMatch AApoAIアミロイドーシス AApoAI amyloidosis https://monarchinitiative.org/MONDO:0019731 NANDO:1201048 http://nanbyodata.jp/ontology/NANDO_1201048 MONDO:0021134 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性後天性凝固第X因子欠乏症 acquired factor X deficiency https://monarchinitiative.org/MONDO:0021134 NANDO:1201038 http://nanbyodata.jp/ontology/NANDO_1201038 MONDO:0004737 http://www.w3.org/2004/02/skos/core#exactMatch "" homocystinuria https://monarchinitiative.org/MONDO:0004737 NANDO:1201001 http://nanbyodata.jp/ontology/NANDO_1201001 MONDO:0019172 http://www.w3.org/2004/02/skos/core#exactMatch "" aniridia https://monarchinitiative.org/MONDO:0019172 NANDO:1201011 http://nanbyodata.jp/ontology/NANDO_1201011 MONDO:0019563 http://www.w3.org/2004/02/skos/core#closeMatch "" CREST syndrome https://monarchinitiative.org/MONDO:0019563 NANDO:1200997 http://nanbyodata.jp/ontology/NANDO_1200997 MONDO:0100222 http://www.w3.org/2004/02/skos/core#exactMatch "" A20 haploinsufficiency https://monarchinitiative.org/MONDO:0100222 NANDO:1201071 http://nanbyodata.jp/ontology/NANDO_1201071 MONDO:0000087 http://www.w3.org/2004/02/skos/core#exactMatch 多小脳回 polymicrogyria https://monarchinitiative.org/MONDO:0000087 NANDO:2100004 http://nanbyodata.jp/ontology/NANDO_2100004 MONDO:0005062 http://www.w3.org/2004/02/skos/core#exactMatch リンパ腫 lymphoma https://monarchinitiative.org/MONDO:0005062 NANDO:1201075 http://nanbyodata.jp/ontology/NANDO_1201075 MONDO:0007078 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症IA型 pseudohypoparathyroidism type 1A https://monarchinitiative.org/MONDO:0007078 NANDO:1201102 http://nanbyodata.jp/ontology/NANDO_1201102 MONDO:0007232 http://www.w3.org/2004/02/skos/core#closeMatch 常染色体顕性短体幹症 autosomal dominant brachyolmia https://monarchinitiative.org/MONDO:0007232 NANDO:1201088 http://nanbyodata.jp/ontology/NANDO_1201088 MONDO:0007526 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 脊椎異形成型 Ehlers-Danlos syndrome, spondylodysplastic type https://monarchinitiative.org/MONDO:0007526 NANDO:1201091 http://nanbyodata.jp/ontology/NANDO_1201091 MONDO:0007527 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 歯周型 Ehlers-Danlos syndrome, periodontitis type https://monarchinitiative.org/MONDO:0007527 NANDO:1201099 http://nanbyodata.jp/ontology/NANDO_1201099 MONDO:0007986 http://www.w3.org/2004/02/skos/core#exactMatch 変容性骨異形成症 metatropic dysplasia https://monarchinitiative.org/MONDO:0007986 NANDO:1201100 http://nanbyodata.jp/ontology/NANDO_1201100 MONDO:0008473 http://www.w3.org/2004/02/skos/core#exactMatch 脊椎骨端骨幹端異形成症, マロトー型 spondyloepimetaphyseal dysplasia, Maroteaux type https://monarchinitiative.org/MONDO:0008473 NANDO:1201101 http://nanbyodata.jp/ontology/NANDO_1201101 MONDO:0008477 http://www.w3.org/2004/02/skos/core#exactMatch 脊椎骨幹端異形成症, Kozlowski型 spondylometaphyseal dysplasia, Kozlowski type https://monarchinitiative.org/MONDO:0008477 NANDO:1201078 http://nanbyodata.jp/ontology/NANDO_1201078 MONDO:0008749 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症2型 pseudohypoparathyroidism type 2 https://monarchinitiative.org/MONDO:0008749 NANDO:1201086 http://nanbyodata.jp/ontology/NANDO_1201086 MONDO:0009159 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 心臓弁型 Ehlers-Danlos syndrome, cardiac valvular type https://monarchinitiative.org/MONDO:0009159 NANDO:1201066 http://nanbyodata.jp/ontology/NANDO_1201066 MONDO:0009180 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症, 非ヘルリッツ型 junctional epidermolysis bullosa, non-Herlitz type https://monarchinitiative.org/MONDO:0009180 NANDO:1201065 http://nanbyodata.jp/ontology/NANDO_1201065 MONDO:0009182 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症ヘルリッツ型 junctional epidermolysis bullosa Herlitz type https://monarchinitiative.org/MONDO:0009182 NANDO:1201087 http://nanbyodata.jp/ontology/NANDO_1201087 MONDO:0009242 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱角膜症候群 brittle cornea syndrome https://monarchinitiative.org/MONDO:0009242 NANDO:1201083 http://nanbyodata.jp/ontology/NANDO_1201083 MONDO:0009532 http://www.w3.org/2004/02/skos/core#exactMatch ミラー・ディカー滑脳症候群 Miller-Dieker lissencephaly syndrome https://monarchinitiative.org/MONDO:0009532 NANDO:1201073 http://nanbyodata.jp/ontology/NANDO_1201073 MONDO:0010011 http://www.w3.org/2004/02/skos/core#exactMatch 裂脳症 schizencephaly https://monarchinitiative.org/MONDO:0010011 NANDO:1201095 http://nanbyodata.jp/ontology/NANDO_1201095 MONDO:0010283 http://www.w3.org/2004/02/skos/core#closeMatch 症候性X連鎖性知的障害Lubs型 syndromic X-linked intellectual disability Lubs type https://monarchinitiative.org/MONDO:0010283 NANDO:1201064 http://nanbyodata.jp/ontology/NANDO_1201064 MONDO:0010787 http://www.w3.org/2004/02/skos/core#exactMatch カーンズ・セイヤー症候群 Kearns-Sayre syndrome https://monarchinitiative.org/MONDO:0010787 NANDO:1201093 http://nanbyodata.jp/ontology/NANDO_1201093 MONDO:0010810 http://www.w3.org/2004/02/skos/core#exactMatch ビタミンD依存性くる病, 1B型 vitamin D hydroxylation-deficient rickets, type 1B https://monarchinitiative.org/MONDO:0010810 NANDO:1201089 http://nanbyodata.jp/ontology/NANDO_1201089 MONDO:0011142 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 筋拘縮型 Ehlers-Danlos syndrome, musculocontractural type https://monarchinitiative.org/MONDO:0011142 NANDO:1201076 http://nanbyodata.jp/ontology/NANDO_1201076 MONDO:0011301 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症1B型 pseudohypoparathyroidism type 1B https://monarchinitiative.org/MONDO:0011301 NANDO:1201103 http://nanbyodata.jp/ontology/NANDO_1201103 MONDO:0011732 http://www.w3.org/2004/02/skos/core#exactMatch 家族性指趾関節症-短指症 familial digital arthropathy-brachydactyly https://monarchinitiative.org/MONDO:0011732 NANDO:1201077 http://nanbyodata.jp/ontology/NANDO_1201077 MONDO:0012911 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症1C型 pseudohypoparathyroidism type 1C https://monarchinitiative.org/MONDO:0012911 NANDO:1201068 http://nanbyodata.jp/ontology/NANDO_1201068 MONDO:0015146 http://www.w3.org/2004/02/skos/core#closeMatch 古典型滑脳症 classic lissencephaly https://monarchinitiative.org/MONDO:0015146 NANDO:1201069 http://nanbyodata.jp/ontology/NANDO_1201069 MONDO:0015146 http://www.w3.org/2004/02/skos/core#closeMatch 古典型滑脳症 classic lissencephaly https://monarchinitiative.org/MONDO:0015146 NANDO:1201097 http://nanbyodata.jp/ontology/NANDO_1201097 MONDO:0016575 http://www.w3.org/2004/02/skos/core#closeMatch 原発性線毛機能不全症 primary ciliary dyskinesia https://monarchinitiative.org/MONDO:0016575 NANDO:1201096 http://nanbyodata.jp/ontology/NANDO_1201096 MONDO:0016575 http://www.w3.org/2004/02/skos/core#exactMatch 原発性線毛機能不全症 primary ciliary dyskinesia https://monarchinitiative.org/MONDO:0016575 NANDO:1201074 http://nanbyodata.jp/ontology/NANDO_1201074 MONDO:0017410 http://www.w3.org/2004/02/skos/core#exactMatch 孔脳症 porencephaly https://monarchinitiative.org/MONDO:0017410 NANDO:1201098 http://nanbyodata.jp/ontology/NANDO_1201098 MONDO:0018240 http://www.w3.org/2004/02/skos/core#closeMatch TRPV4異常症 TRPV4-related bone disorder https://monarchinitiative.org/MONDO:0018240 NANDO:1201072 http://nanbyodata.jp/ontology/NANDO_1201072 MONDO:0018869 http://www.w3.org/2004/02/skos/core#exactMatch 敷石様皮質異形成 cobblestone lissencephaly https://monarchinitiative.org/MONDO:0018869 NANDO:1201080 http://nanbyodata.jp/ontology/NANDO_1201080 MONDO:0019145 http://www.w3.org/2004/02/skos/core#exactMatch 先天性プロテインC欠損による遺伝性血栓形成傾向 hereditary thrombophilia due to congenital protein C deficiency https://monarchinitiative.org/MONDO:0019145 NANDO:1201079 http://nanbyodata.jp/ontology/NANDO_1201079 MONDO:0020341 http://www.w3.org/2004/02/skos/core#exactMatch 脳室周囲結節状異所性灰白質 periventricular nodular heterotopia https://monarchinitiative.org/MONDO:0020341 NANDO:1201070 http://nanbyodata.jp/ontology/NANDO_1201070 MONDO:0020491 http://www.w3.org/2004/02/skos/core#exactMatch 皮質下帯状異所性灰白質 subcortical band heterotopia https://monarchinitiative.org/MONDO:0020491 NANDO:1201092 http://nanbyodata.jp/ontology/NANDO_1201092 MONDO:0020723 http://www.w3.org/2004/02/skos/core#exactMatch ビタミンD依存性くる病1A 型 vitamin D-dependent rickets, type 1A https://monarchinitiative.org/MONDO:0020723 NANDO:1201094 http://nanbyodata.jp/ontology/NANDO_1201094 MONDO:0033640 http://www.w3.org/2004/02/skos/core#exactMatch 3型ビタミンD依存性くる病 vitamin D-dependent rickets, type 3 https://monarchinitiative.org/MONDO:0033640 NANDO:1201090 http://nanbyodata.jp/ontology/NANDO_1201090 MONDO:0034022 http://www.w3.org/2004/02/skos/core#closeMatch ベスレムミオパチー2 Bethlem myopathy 2 https://monarchinitiative.org/MONDO:0034022 NANDO:1201085 http://nanbyodata.jp/ontology/NANDO_1201085 MONDO:0054813 http://www.w3.org/2004/02/skos/core#closeMatch エーラス・ダンロス症候群, 類古典型, 2 Ehlers-Danlos syndrome, classic-like, 2 https://monarchinitiative.org/MONDO:0054813 NANDO:1201081 http://nanbyodata.jp/ontology/NANDO_1201081 MONDO:0002304 http://www.w3.org/2004/02/skos/core#exactMatch "" protein S deficiency https://monarchinitiative.org/MONDO:0002304 NANDO:2100005 http://nanbyodata.jp/ontology/NANDO_2100005 MONDO:0002637 http://www.w3.org/2004/02/skos/core#exactMatch "" histiocytosis https://monarchinitiative.org/MONDO:0002637 NANDO:2100007 http://nanbyodata.jp/ontology/NANDO_2100007 MONDO:0002714 http://www.w3.org/2004/02/skos/core#exactMatch "" central nervous system cancer https://monarchinitiative.org/MONDO:0002714 NANDO:2100004 http://nanbyodata.jp/ontology/NANDO_2100004 MONDO:0003659 http://www.w3.org/2004/02/skos/core#closeMatch "" pediatric lymphoma https://monarchinitiative.org/MONDO:0003659 NANDO:2100004 http://nanbyodata.jp/ontology/NANDO_2100004 MONDO:0003660 http://www.w3.org/2004/02/skos/core#closeMatch "" adult lymphoma https://monarchinitiative.org/MONDO:0003660 NANDO:2100002 http://nanbyodata.jp/ontology/NANDO_2100002 MONDO:0004355 http://www.w3.org/2004/02/skos/core#closeMatch "" childhood leukemia https://monarchinitiative.org/MONDO:0004355 NANDO:2100002 http://nanbyodata.jp/ontology/NANDO_2100002 MONDO:0005059 http://www.w3.org/2004/02/skos/core#exactMatch "" leukemia https://monarchinitiative.org/MONDO:0005059 NANDO:2100009 http://nanbyodata.jp/ontology/NANDO_2100009 MONDO:0005377 http://www.w3.org/2004/02/skos/core#exactMatch "" nephrotic syndrome https://monarchinitiative.org/MONDO:0005377 NANDO:2100049 http://nanbyodata.jp/ontology/NANDO_2100049 MONDO:0005477 http://www.w3.org/2004/02/skos/core#exactMatch "" ventricular tachycardia https://monarchinitiative.org/MONDO:0005477 NANDO:1201068 http://nanbyodata.jp/ontology/NANDO_1201068 MONDO:0022402 http://www.w3.org/2004/02/skos/core#closeMatch "" agyria-pachygyria type 1 https://monarchinitiative.org/MONDO:0022402 NANDO:1201069 http://nanbyodata.jp/ontology/NANDO_1201069 MONDO:0022402 http://www.w3.org/2004/02/skos/core#closeMatch "" agyria-pachygyria type 1 https://monarchinitiative.org/MONDO:0022402 NANDO:2100023 http://nanbyodata.jp/ontology/NANDO_2100023 MONDO:0024327 http://www.w3.org/2004/02/skos/core#exactMatch "" chronic renal failure syndrome https://monarchinitiative.org/MONDO:0024327 NANDO:1201084 http://nanbyodata.jp/ontology/NANDO_1201084 MONDO:0100464 http://www.w3.org/2004/02/skos/core#exactMatch "" acid sphingomyelinase deficiency https://monarchinitiative.org/MONDO:0100464 NANDO:1201085 http://nanbyodata.jp/ontology/NANDO_1201085 MONDO:0971044 http://www.w3.org/2004/02/skos/core#closeMatch "" Ehlers-Danlos syndrome, classic-like, 3 https://monarchinitiative.org/MONDO:0971044 NANDO:2100135 http://nanbyodata.jp/ontology/NANDO_2100135 MONDO:0000088 http://www.w3.org/2004/02/skos/core#exactMatch 思春期早発症 precocious puberty https://monarchinitiative.org/MONDO:0000088 NANDO:2100140 http://nanbyodata.jp/ontology/NANDO_2100140 MONDO:0002145 http://www.w3.org/2004/02/skos/core#exactMatch 性分化障害 disorder of sexual differentiation https://monarchinitiative.org/MONDO:0002145 NANDO:2100165 http://nanbyodata.jp/ontology/NANDO_2100165 MONDO:0002561 http://www.w3.org/2004/02/skos/core#exactMatch ライソゾーム病 lysosomal storage disease https://monarchinitiative.org/MONDO:0002561 NANDO:2100204 http://nanbyodata.jp/ontology/NANDO_2100204 MONDO:0003778 http://www.w3.org/2004/02/skos/core#closeMatch 先天性免疫異常症 inborn error of immunity https://monarchinitiative.org/MONDO:0003778 NANDO:2100163 http://nanbyodata.jp/ontology/NANDO_2100163 MONDO:0004069 http://www.w3.org/2004/02/skos/core#closeMatch 先天性ミトコンドリア代謝障害 inborn mitochondrial metabolism disorder https://monarchinitiative.org/MONDO:0004069 NANDO:2100175 http://nanbyodata.jp/ontology/NANDO_2100175 MONDO:0005570 http://www.w3.org/2004/02/skos/core#exactMatch 血液障害 hematologic disorder https://monarchinitiative.org/MONDO:0005570 NANDO:2100085 http://nanbyodata.jp/ontology/NANDO_2100085 MONDO:0006664 http://www.w3.org/2004/02/skos/core#exactMatch 心房中隔欠損 atrial septal defect https://monarchinitiative.org/MONDO:0006664 NANDO:2100203 http://nanbyodata.jp/ontology/NANDO_2100203 MONDO:0015131 http://www.w3.org/2004/02/skos/core#exactMatch 複合免疫不全症 combined immunodeficiency https://monarchinitiative.org/MONDO:0015131 NANDO:2100221 http://nanbyodata.jp/ontology/NANDO_2100221 MONDO:0015333 http://www.w3.org/2004/02/skos/core#exactMatch 早老症 progeroid syndrome https://monarchinitiative.org/MONDO:0015333 NANDO:2100132 http://nanbyodata.jp/ontology/NANDO_2100132 MONDO:0015900 http://www.w3.org/2004/02/skos/core#exactMatch 低アルドステロン症 hypoaldosteronism disease https://monarchinitiative.org/MONDO:0015900 NANDO:2100148 http://nanbyodata.jp/ontology/NANDO_2100148 MONDO:0017169 http://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍 multiple endocrine neoplasia https://monarchinitiative.org/MONDO:0017169 NANDO:2100125 http://nanbyodata.jp/ontology/NANDO_2100125 MONDO:0017278 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性多発性内分泌症 autoimmune polyendocrinopathy https://monarchinitiative.org/MONDO:0017278 NANDO:2100159 http://nanbyodata.jp/ontology/NANDO_2100159 MONDO:0019052 http://www.w3.org/2004/02/skos/core#exactMatch 先天性代謝異常 inborn errors of metabolism https://monarchinitiative.org/MONDO:0019052 NANDO:2100166 http://nanbyodata.jp/ontology/NANDO_2100166 MONDO:0019053 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム病 peroxisomal disease https://monarchinitiative.org/MONDO:0019053 NANDO:2100214 http://nanbyodata.jp/ontology/NANDO_2100214 MONDO:0019056 http://www.w3.org/2004/02/skos/core#exactMatch 神経・筋疾患 neuromuscular disease https://monarchinitiative.org/MONDO:0019056 NANDO:2100164 http://nanbyodata.jp/ontology/NANDO_2100164 MONDO:0019214 http://www.w3.org/2004/02/skos/core#exactMatch 糖質代謝異常症 inborn carbohydrate metabolic disorder https://monarchinitiative.org/MONDO:0019214 NANDO:2100156 http://nanbyodata.jp/ontology/NANDO_2100156 MONDO:0019751 http://www.w3.org/2004/02/skos/core#exactMatch 自己炎症性疾患 autoinflammatory syndrome https://monarchinitiative.org/MONDO:0019751 NANDO:2100181 http://nanbyodata.jp/ontology/NANDO_2100181 MONDO:0020108 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性溶血性貧血 autoimmune hemolytic anemia https://monarchinitiative.org/MONDO:0020108 NANDO:2100177 http://nanbyodata.jp/ontology/NANDO_2100177 MONDO:0001705 http://www.w3.org/2004/02/skos/core#exactMatch "" pure red-cell aplasia https://monarchinitiative.org/MONDO:0001705 NANDO:2100105 http://nanbyodata.jp/ontology/NANDO_2100105 MONDO:0002869 http://www.w3.org/2004/02/skos/core#exactMatch "" heart valve disorder https://monarchinitiative.org/MONDO:0002869 NANDO:2100183 http://nanbyodata.jp/ontology/NANDO_2100183 MONDO:0003689 http://www.w3.org/2004/02/skos/core#exactMatch "" familial hemolytic anemia https://monarchinitiative.org/MONDO:0003689 NANDO:2100172 http://nanbyodata.jp/ontology/NANDO_2100172 MONDO:0003900 http://www.w3.org/2004/02/skos/core#exactMatch "" connective tissue disorder https://monarchinitiative.org/MONDO:0003900 NANDO:2100117 http://nanbyodata.jp/ontology/NANDO_2100117 MONDO:0004782 http://www.w3.org/2004/02/skos/core#exactMatch "" diabetes insipidus https://monarchinitiative.org/MONDO:0004782 NANDO:2100157 http://nanbyodata.jp/ontology/NANDO_2100157 MONDO:0005015 http://www.w3.org/2004/02/skos/core#exactMatch "" diabetes mellitus https://monarchinitiative.org/MONDO:0005015 NANDO:2100202 http://nanbyodata.jp/ontology/NANDO_2100202 MONDO:0005046 http://www.w3.org/2004/02/skos/core#exactMatch "" immune system disorder https://monarchinitiative.org/MONDO:0005046 NANDO:2100109 http://nanbyodata.jp/ontology/NANDO_2100109 MONDO:0005151 http://www.w3.org/2004/02/skos/core#exactMatch "" endocrine system disorder https://monarchinitiative.org/MONDO:0005151 NANDO:2100110 http://nanbyodata.jp/ontology/NANDO_2100110 MONDO:0005152 http://www.w3.org/2004/02/skos/core#exactMatch "" hypopituitarism https://monarchinitiative.org/MONDO:0005152 NANDO:2100139 http://nanbyodata.jp/ontology/NANDO_2100139 MONDO:0005387 http://www.w3.org/2004/02/skos/core#exactMatch "" primary ovarian failure https://monarchinitiative.org/MONDO:0005387 NANDO:2100120 http://nanbyodata.jp/ontology/NANDO_2100120 MONDO:0005420 http://www.w3.org/2004/02/skos/core#exactMatch "" hypothyroidism https://monarchinitiative.org/MONDO:0005420 NANDO:2100151 http://nanbyodata.jp/ontology/NANDO_2100151 MONDO:0005554 http://www.w3.org/2004/02/skos/core#exactMatch "" rheumatic disorder https://monarchinitiative.org/MONDO:0005554 NANDO:2100204 http://nanbyodata.jp/ontology/NANDO_2100204 MONDO:0021094 http://www.w3.org/2004/02/skos/core#exactMatch "" immunodeficiency disease https://monarchinitiative.org/MONDO:0021094 NANDO:2100164 http://nanbyodata.jp/ontology/NANDO_2100164 MONDO:0037792 http://www.w3.org/2004/02/skos/core#exactMatch "" carbohydrate metabolism disease https://monarchinitiative.org/MONDO:0037792 NANDO:2100162 http://nanbyodata.jp/ontology/NANDO_2100162 MONDO:0037858 http://www.w3.org/2004/02/skos/core#exactMatch "" inherited fatty acid metabolism disorder https://monarchinitiative.org/MONDO:0037858 NANDO:2100160 http://nanbyodata.jp/ontology/NANDO_2100160 MONDO:0037871 http://www.w3.org/2004/02/skos/core#exactMatch "" amino acid metabolism disease https://monarchinitiative.org/MONDO:0037871 NANDO:2100220 http://nanbyodata.jp/ontology/NANDO_2100220 MONDO:0042983 http://www.w3.org/2004/02/skos/core#exactMatch "" neurocutaneous syndrome https://monarchinitiative.org/MONDO:0042983 NANDO:2100188 http://nanbyodata.jp/ontology/NANDO_2100188 MONDO:0043768 http://www.w3.org/2004/02/skos/core#exactMatch "" thrombocytopenic purpura https://monarchinitiative.org/MONDO:0043768 NANDO:2100163 http://nanbyodata.jp/ontology/NANDO_2100163 MONDO:0044970 http://www.w3.org/2004/02/skos/core#exactMatch "" mitochondrial disease https://monarchinitiative.org/MONDO:0044970 NANDO:2100161 http://nanbyodata.jp/ontology/NANDO_2100161 MONDO:0045022 http://www.w3.org/2004/02/skos/core#exactMatch "" disorder of organic acid metabolism https://monarchinitiative.org/MONDO:0045022 NANDO:2200024 http://nanbyodata.jp/ontology/NANDO_2200024 MONDO:0004952 http://www.w3.org/2004/02/skos/core#exactMatch ホジキンリンパ腫 Hodgkins lymphoma https://monarchinitiative.org/MONDO:0004952 NANDO:2200029 http://nanbyodata.jp/ontology/NANDO_2200029 MONDO:0004977 http://www.w3.org/2004/02/skos/core#exactMatch 血管免疫芽球性T細胞性リンパ腫 angioimmunoblastic T-cell lymphoma https://monarchinitiative.org/MONDO:0004977 NANDO:2200004 http://nanbyodata.jp/ontology/NANDO_2200004 MONDO:0005223 http://www.w3.org/2004/02/skos/core#exactMatch 最未分化型急性骨髄性白血病 acute myeloid leukemia with minimal differentiation https://monarchinitiative.org/MONDO:0005223 NANDO:2200005 http://nanbyodata.jp/ontology/NANDO_2200005 MONDO:0005224 http://www.w3.org/2004/02/skos/core#exactMatch 成熟を伴わない急性骨髄性白血病 acute myeloblastic leukemia without maturation https://monarchinitiative.org/MONDO:0005224 NANDO:2200034 http://nanbyodata.jp/ontology/NANDO_2200034 MONDO:0005764 http://www.w3.org/2004/02/skos/core#exactMatch 濾胞樹状細胞肉腫 follicular dendritic cell sarcoma https://monarchinitiative.org/MONDO:0005764 NANDO:2200008 http://nanbyodata.jp/ontology/NANDO_2200008 MONDO:0007896 http://www.w3.org/2004/02/skos/core#closeMatch 急性単球性白血病 acute monocytic leukemia https://monarchinitiative.org/MONDO:0007896 NANDO:2200009 http://nanbyodata.jp/ontology/NANDO_2200009 MONDO:0007896 http://www.w3.org/2004/02/skos/core#exactMatch 急性単球性白血病 acute monocytic leukemia https://monarchinitiative.org/MONDO:0007896 NANDO:2200014 http://nanbyodata.jp/ontology/NANDO_2200014 MONDO:0011908 http://www.w3.org/2004/02/skos/core#closeMatch 若年性骨髄単球性白血病 juvenile myelomonocytic leukemia https://monarchinitiative.org/MONDO:0011908 NANDO:2200015 http://nanbyodata.jp/ontology/NANDO_2200015 MONDO:0011908 http://www.w3.org/2004/02/skos/core#exactMatch 若年性骨髄単球性白血病 juvenile myelomonocytic leukemia https://monarchinitiative.org/MONDO:0011908 NANDO:2200013 http://nanbyodata.jp/ontology/NANDO_2200013 MONDO:0011996 http://www.w3.org/2004/02/skos/core#exactMatch 慢性骨髄性白血病, BCR-ABL1陽性 chronic myelogenous leukemia, BCR-ABL1 positive https://monarchinitiative.org/MONDO:0011996 NANDO:2200007 http://nanbyodata.jp/ontology/NANDO_2200007 MONDO:0012883 http://www.w3.org/2004/02/skos/core#exactMatch 急性前骨髄球性白血病 acute promyelocytic leukemia https://monarchinitiative.org/MONDO:0012883 NANDO:2100227 http://nanbyodata.jp/ontology/NANDO_2100227 MONDO:0015469 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋骨癒合症 craniosynostosis https://monarchinitiative.org/MONDO:0015469 NANDO:2200032 http://nanbyodata.jp/ontology/NANDO_2200032 MONDO:0015540 http://www.w3.org/2004/02/skos/core#exactMatch 血球貪食性リンパ組織球症 hemophagocytic syndrome https://monarchinitiative.org/MONDO:0015540 NANDO:2200020 http://nanbyodata.jp/ontology/NANDO_2200020 MONDO:0015759 http://www.w3.org/2004/02/skos/core#exactMatch B細胞性非ホジキンリンパ腫 B-cell non-Hodgkin lymphoma https://monarchinitiative.org/MONDO:0015759 NANDO:2100283 http://nanbyodata.jp/ontology/NANDO_2100283 MONDO:0015947 http://www.w3.org/2004/02/skos/core#exactMatch 先天性魚鱗癬 inherited ichthyosis https://monarchinitiative.org/MONDO:0015947 NANDO:2200010 http://nanbyodata.jp/ontology/NANDO_2200010 MONDO:0017858 http://www.w3.org/2004/02/skos/core#exactMatch 急性赤白血病 acute erythroid leukemia https://monarchinitiative.org/MONDO:0017858 NANDO:2100241 http://nanbyodata.jp/ontology/NANDO_2100241 MONDO:0018307 http://www.w3.org/2004/02/skos/core#exactMatch 脳内に鉄沈着を伴う神経変性症 neurodegeneration with brain iron accumulation https://monarchinitiative.org/MONDO:0018307 NANDO:2200031 http://nanbyodata.jp/ontology/NANDO_2200031 MONDO:0018310 http://www.w3.org/2004/02/skos/core#exactMatch ランゲルハンス細胞組織球症 Langerhans cell histiocytosis https://monarchinitiative.org/MONDO:0018310 NANDO:2200011 http://nanbyodata.jp/ontology/NANDO_2200011 MONDO:0018872 http://www.w3.org/2004/02/skos/core#exactMatch 急性巨核芽球性白血病 acute megakaryoblastic leukemia https://monarchinitiative.org/MONDO:0018872 NANDO:2200019 http://nanbyodata.jp/ontology/NANDO_2200019 MONDO:0018881 http://www.w3.org/2004/02/skos/core#exactMatch 骨髄異形成症候群 myelodysplastic syndrome https://monarchinitiative.org/MONDO:0018881 NANDO:2100279 http://nanbyodata.jp/ontology/NANDO_2100279 MONDO:0019040 http://www.w3.org/2004/02/skos/core#exactMatch 染色体または遺伝子に変化を伴う症候群 chromosomal disorder https://monarchinitiative.org/MONDO:0019040 NANDO:2200017 http://nanbyodata.jp/ontology/NANDO_2200017 MONDO:0019460 http://www.w3.org/2004/02/skos/core#closeMatch 急性未分化型白血病 acute leukemia of ambiguous lineage https://monarchinitiative.org/MONDO:0019460 NANDO:2200018 http://nanbyodata.jp/ontology/NANDO_2200018 MONDO:0019460 http://www.w3.org/2004/02/skos/core#closeMatch 急性未分化型白血病 acute leukemia of ambiguous lineage https://monarchinitiative.org/MONDO:0019460 NANDO:2200012 http://nanbyodata.jp/ontology/NANDO_2200012 MONDO:0019470 http://www.w3.org/2004/02/skos/core#exactMatch NK細胞白血病 aggressive NK-cell leukemia https://monarchinitiative.org/MONDO:0019470 NANDO:2200027 http://nanbyodata.jp/ontology/NANDO_2200027 MONDO:0019472 http://www.w3.org/2004/02/skos/core#exactMatch 節外性NK/T細胞リンパ腫-鼻型 extranodal nasal NK/T cell lymphoma https://monarchinitiative.org/MONDO:0019472 NANDO:2200030 http://nanbyodata.jp/ontology/NANDO_2200030 MONDO:0019475 http://www.w3.org/2004/02/skos/core#exactMatch 皮下脂肪織炎様T細胞性リンパ腫 subcutaneous panniculitis-like T-cell lymphoma https://monarchinitiative.org/MONDO:0019475 NANDO:2100234 http://nanbyodata.jp/ontology/NANDO_2100234 MONDO:0019952 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオパチー congenital myopathy https://monarchinitiative.org/MONDO:0019952 NANDO:2100237 http://nanbyodata.jp/ontology/NANDO_2100237 MONDO:0020074 http://www.w3.org/2004/02/skos/core#exactMatch 進行性ミオクローヌスてんかん progressive myoclonus epilepsy https://monarchinitiative.org/MONDO:0020074 NANDO:2100233 http://nanbyodata.jp/ontology/NANDO_2100233 MONDO:0020121 http://www.w3.org/2004/02/skos/core#exactMatch 筋ジストロフィー muscular dystrophy https://monarchinitiative.org/MONDO:0020121 NANDO:2200014 http://nanbyodata.jp/ontology/NANDO_2200014 MONDO:0020311 http://www.w3.org/2004/02/skos/core#exactMatch 慢性骨髄単球性白血病 chronic myelomonocytic leukemia https://monarchinitiative.org/MONDO:0020311 NANDO:2200006 http://nanbyodata.jp/ontology/NANDO_2200006 MONDO:0020320 http://www.w3.org/2004/02/skos/core#exactMatch 成熟を伴う急性骨髄性白血病 acute myeloblastic leukemia with maturation https://monarchinitiative.org/MONDO:0020320 NANDO:2200017 http://nanbyodata.jp/ontology/NANDO_2200017 MONDO:0020321 http://www.w3.org/2004/02/skos/core#exactMatch 急性未分化型白血病 acute undifferentiated leukemia https://monarchinitiative.org/MONDO:0020321 NANDO:2200021 http://nanbyodata.jp/ontology/NANDO_2200021 MONDO:0020325 http://www.w3.org/2004/02/skos/core#exactMatch 未分化大細胞リンパ腫 anaplastic large cell lymphoma https://monarchinitiative.org/MONDO:0020325 NANDO:2200022 http://nanbyodata.jp/ontology/NANDO_2200022 MONDO:0020511 http://www.w3.org/2004/02/skos/core#closeMatch 前駆B細胞急性リンパ性白血病 precursor B-cell acute lymphoblastic leukemia https://monarchinitiative.org/MONDO:0020511 NANDO:2200001 http://nanbyodata.jp/ontology/NANDO_2200001 MONDO:0020511 http://www.w3.org/2004/02/skos/core#exactMatch 前駆B細胞急性リンパ性白血病 precursor B-cell acute lymphoblastic leukemia https://monarchinitiative.org/MONDO:0020511 NANDO:2200018 http://nanbyodata.jp/ontology/NANDO_2200018 MONDO:0020743 http://www.w3.org/2004/02/skos/core#exactMatch 混合型急性白血病 mixed phenotype acute leukemia https://monarchinitiative.org/MONDO:0020743 NANDO:2100257 http://nanbyodata.jp/ontology/NANDO_2100257 MONDO:0000147 http://www.w3.org/2004/02/skos/core#exactMatch "" polyposis https://monarchinitiative.org/MONDO:0000147 NANDO:2200002 http://nanbyodata.jp/ontology/NANDO_2200002 MONDO:0000872 http://www.w3.org/2004/02/skos/core#exactMatch "" B-cell childhood acute lymphoblastic leukemia https://monarchinitiative.org/MONDO:0000872 NANDO:2200008 http://nanbyodata.jp/ontology/NANDO_2200008 MONDO:0000875 http://www.w3.org/2004/02/skos/core#closeMatch "" adult acute monocytic leukemia https://monarchinitiative.org/MONDO:0000875 NANDO:2200009 http://nanbyodata.jp/ontology/NANDO_2200009 MONDO:0000875 http://www.w3.org/2004/02/skos/core#closeMatch "" adult acute monocytic leukemia https://monarchinitiative.org/MONDO:0000875 NANDO:2200003 http://nanbyodata.jp/ontology/NANDO_2200003 MONDO:0004963 http://www.w3.org/2004/02/skos/core#exactMatch "" T-cell acute lymphoblastic leukemia https://monarchinitiative.org/MONDO:0004963 NANDO:2200028 http://nanbyodata.jp/ontology/NANDO_2200028 MONDO:0004964 http://www.w3.org/2004/02/skos/core#exactMatch "" peripheral T-cell lymphoma, not otherwise specified https://monarchinitiative.org/MONDO:0004964 NANDO:2100281 http://nanbyodata.jp/ontology/NANDO_2100281 MONDO:0005093 http://www.w3.org/2004/02/skos/core#exactMatch "" skin disorder https://monarchinitiative.org/MONDO:0005093 NANDO:2100259 http://nanbyodata.jp/ontology/NANDO_2100259 MONDO:0005265 http://www.w3.org/2004/02/skos/core#exactMatch "" inflammatory bowel disease https://monarchinitiative.org/MONDO:0005265 NANDO:2100291 http://nanbyodata.jp/ontology/NANDO_2100291 MONDO:0005381 http://www.w3.org/2004/02/skos/core#exactMatch "" bone disorder https://monarchinitiative.org/MONDO:0005381 NANDO:2100294 http://nanbyodata.jp/ontology/NANDO_2100294 MONDO:0005385 http://www.w3.org/2004/02/skos/core#exactMatch "" vascular disorder https://monarchinitiative.org/MONDO:0005385 NANDO:2200035 http://nanbyodata.jp/ontology/NANDO_2200035 MONDO:0005813 http://www.w3.org/2004/02/skos/core#exactMatch "" interdigitating dendritic cell sarcoma https://monarchinitiative.org/MONDO:0005813 NANDO:2200031 http://nanbyodata.jp/ontology/NANDO_2200031 MONDO:0017025 http://www.w3.org/2004/02/skos/core#closeMatch "" Langerhans cell histiocytosis specific to childhood https://monarchinitiative.org/MONDO:0017025 NANDO:2200031 http://nanbyodata.jp/ontology/NANDO_2200031 MONDO:0017029 http://www.w3.org/2004/02/skos/core#closeMatch "" Langerhans cell histiocytosis specific to adulthood https://monarchinitiative.org/MONDO:0017029 NANDO:2100295 http://nanbyodata.jp/ontology/NANDO_2100295 MONDO:0024291 http://www.w3.org/2004/02/skos/core#exactMatch "" vascular malformation https://monarchinitiative.org/MONDO:0024291 NANDO:2200019 http://nanbyodata.jp/ontology/NANDO_2200019 MONDO:0044873 http://www.w3.org/2004/02/skos/core#closeMatch "" childhood myelodysplastic syndrome https://monarchinitiative.org/MONDO:0044873 NANDO:2200023 http://nanbyodata.jp/ontology/NANDO_2200023 MONDO:0044917 http://www.w3.org/2004/02/skos/core#exactMatch "" T-lymphoblastic lymphoma https://monarchinitiative.org/MONDO:0044917 NANDO:2100301 http://nanbyodata.jp/ontology/NANDO_2100301 MONDO:0045010 http://www.w3.org/2004/02/skos/core#exactMatch "" glycoprotein metabolism disease https://monarchinitiative.org/MONDO:0045010 NANDO:2200103 http://nanbyodata.jp/ontology/NANDO_2200103 MONDO:0002546 http://www.w3.org/2004/02/skos/core#exactMatch 神経鞘腫 schwannoma https://monarchinitiative.org/MONDO:0002546 NANDO:2200104 http://nanbyodata.jp/ontology/NANDO_2200104 MONDO:0002718 http://www.w3.org/2004/02/skos/core#exactMatch 中枢神経系奇形腫 central nervous system teratoma https://monarchinitiative.org/MONDO:0002718 NANDO:2200057 http://nanbyodata.jp/ontology/NANDO_2200057 MONDO:0002728 http://www.w3.org/2004/02/skos/core#exactMatch ラブドイド腫瘍 rhabdoid tumor https://monarchinitiative.org/MONDO:0002728 NANDO:2200044 http://nanbyodata.jp/ontology/NANDO_2200044 MONDO:0005006 http://www.w3.org/2004/02/skos/core#exactMatch 腎明細胞肉腫 clear cell sarcoma of kidney https://monarchinitiative.org/MONDO:0005006 NANDO:2200041 http://nanbyodata.jp/ontology/NANDO_2200041 MONDO:0005035 http://www.w3.org/2004/02/skos/core#exactMatch 神経節神経芽腫 ganglioneuroblastoma https://monarchinitiative.org/MONDO:0005035 NANDO:2200064 http://nanbyodata.jp/ontology/NANDO_2200064 MONDO:0005058 http://www.w3.org/2004/02/skos/core#exactMatch 平滑筋肉腫 leiomyosarcoma https://monarchinitiative.org/MONDO:0005058 NANDO:2200065 http://nanbyodata.jp/ontology/NANDO_2200065 MONDO:0005060 http://www.w3.org/2004/02/skos/core#exactMatch 脂肪肉腫 liposarcoma https://monarchinitiative.org/MONDO:0005060 NANDO:2200040 http://nanbyodata.jp/ontology/NANDO_2200040 MONDO:0005072 http://www.w3.org/2004/02/skos/core#exactMatch 神経芽腫 neuroblastoma https://monarchinitiative.org/MONDO:0005072 NANDO:2200045 http://nanbyodata.jp/ontology/NANDO_2200045 MONDO:0005086 http://www.w3.org/2004/02/skos/core#exactMatch 腎細胞癌 renal cell carcinoma https://monarchinitiative.org/MONDO:0005086 NANDO:2200060 http://nanbyodata.jp/ontology/NANDO_2200060 MONDO:0005164 http://www.w3.org/2004/02/skos/core#exactMatch 線維肉腫 fibrosarcoma https://monarchinitiative.org/MONDO:0005164 NANDO:2200056 http://nanbyodata.jp/ontology/NANDO_2200056 MONDO:0005212 http://www.w3.org/2004/02/skos/core#exactMatch 横紋筋肉腫 rhabdomyosarcoma https://monarchinitiative.org/MONDO:0005212 NANDO:2200121 http://nanbyodata.jp/ontology/NANDO_2200121 MONDO:0005342 http://www.w3.org/2004/02/skos/core#exactMatch IgA腎症 IgA glomerulonephritis https://monarchinitiative.org/MONDO:0005342 NANDO:2200067 http://nanbyodata.jp/ontology/NANDO_2200067 MONDO:0005440 http://www.w3.org/2004/02/skos/core#exactMatch 胎児性癌 embryonal carcinoma https://monarchinitiative.org/MONDO:0005440 NANDO:2200049 http://nanbyodata.jp/ontology/NANDO_2200049 MONDO:0005508 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性多発性骨軟骨腫 hereditary multiple osteochondromas https://monarchinitiative.org/MONDO:0005508 NANDO:2200069 http://nanbyodata.jp/ontology/NANDO_2200069 MONDO:0005744 http://www.w3.org/2004/02/skos/core#exactMatch 卵黄嚢腫瘍 yolk sac tumor https://monarchinitiative.org/MONDO:0005744 NANDO:2200095 http://nanbyodata.jp/ontology/NANDO_2200095 MONDO:0006373 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体腺腫 pituitary gland adenoma https://monarchinitiative.org/MONDO:0006373 NANDO:2200039 http://nanbyodata.jp/ontology/NANDO_2200039 MONDO:0006412 http://www.w3.org/2004/02/skos/core#exactMatch 塊状リンパ腺症を伴う洞組織球増多症 sinus histiocytosis with massive lymphadenopathy https://monarchinitiative.org/MONDO:0006412 NANDO:2200079 http://nanbyodata.jp/ontology/NANDO_2200079 MONDO:0006451 http://www.w3.org/2004/02/skos/core#exactMatch 胸腺癌 thymic carcinoma https://monarchinitiative.org/MONDO:0006451 NANDO:2200073 http://nanbyodata.jp/ontology/NANDO_2200073 MONDO:0006639 http://www.w3.org/2004/02/skos/core#exactMatch 副腎皮質癌 adrenal cortex carcinoma https://monarchinitiative.org/MONDO:0006639 NANDO:2200047 http://nanbyodata.jp/ontology/NANDO_2200047 MONDO:0007256 http://www.w3.org/2004/02/skos/core#exactMatch 肝細胞癌 hepatocellular carcinoma https://monarchinitiative.org/MONDO:0007256 NANDO:2200090 http://nanbyodata.jp/ontology/NANDO_2200090 MONDO:0007959 http://www.w3.org/2004/02/skos/core#exactMatch 髄芽腫 medulloblastoma https://monarchinitiative.org/MONDO:0007959 NANDO:2200049 http://nanbyodata.jp/ontology/NANDO_2200049 MONDO:0008145 http://www.w3.org/2004/02/skos/core#closeMatch オリエ病 Ollier disease https://monarchinitiative.org/MONDO:0008145 NANDO:2200042 http://nanbyodata.jp/ontology/NANDO_2200042 MONDO:0008380 http://www.w3.org/2004/02/skos/core#exactMatch 網膜芽細胞腫 retinoblastoma https://monarchinitiative.org/MONDO:0008380 NANDO:2200116 http://nanbyodata.jp/ontology/NANDO_2200116 MONDO:0008682 http://www.w3.org/2004/02/skos/core#exactMatch デニス・ドラッシュ症候群 Denys-Drash syndrome https://monarchinitiative.org/MONDO:0008682 NANDO:2200050 http://nanbyodata.jp/ontology/NANDO_2200050 MONDO:0008977 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨肉腫 chondrosarcoma https://monarchinitiative.org/MONDO:0008977 NANDO:2200098 http://nanbyodata.jp/ontology/NANDO_2200098 MONDO:0008978 http://www.w3.org/2004/02/skos/core#exactMatch 脊索腫 chordoma https://monarchinitiative.org/MONDO:0008978 NANDO:2200110 http://nanbyodata.jp/ontology/NANDO_2200110 MONDO:0009732 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ネフローゼ症候群, フィンランド型 congenital nephrotic syndrome, Finnish type https://monarchinitiative.org/MONDO:0009732 NANDO:2200093 http://nanbyodata.jp/ontology/NANDO_2200093 MONDO:0009837 http://www.w3.org/2004/02/skos/core#exactMatch 脈絡叢乳頭腫 choroid plexus papilloma https://monarchinitiative.org/MONDO:0009837 NANDO:2200061 http://nanbyodata.jp/ontology/NANDO_2200061 MONDO:0010434 http://www.w3.org/2004/02/skos/core#exactMatch 滑膜肉腫 synovial sarcoma https://monarchinitiative.org/MONDO:0010434 NANDO:2200080 http://nanbyodata.jp/ontology/NANDO_2200080 MONDO:0011014 http://www.w3.org/2004/02/skos/core#exactMatch 胸膜肺芽腫 pleuropulmonary blastoma https://monarchinitiative.org/MONDO:0011014 NANDO:2200063 http://nanbyodata.jp/ontology/NANDO_2200063 MONDO:0011655 http://www.w3.org/2004/02/skos/core#exactMatch 胞巣状軟部肉腫 alveolar soft part sarcoma https://monarchinitiative.org/MONDO:0011655 NANDO:2200117 http://nanbyodata.jp/ontology/NANDO_2200117 MONDO:0012184 http://www.w3.org/2004/02/skos/core#exactMatch Pierson症候群 Pierson syndrome https://monarchinitiative.org/MONDO:0012184 NANDO:2200053 http://nanbyodata.jp/ontology/NANDO_2200053 MONDO:0012817 http://www.w3.org/2004/02/skos/core#exactMatch ユーイング肉腫 Ewing sarcoma https://monarchinitiative.org/MONDO:0012817 NANDO:2200074 http://nanbyodata.jp/ontology/NANDO_2200074 MONDO:0015075 http://www.w3.org/2004/02/skos/core#closeMatch 甲状腺癌 thyroid gland carcinoma https://monarchinitiative.org/MONDO:0015075 NANDO:2200037 http://nanbyodata.jp/ontology/NANDO_2200037 MONDO:0015534 http://www.w3.org/2004/02/skos/core#exactMatch 若年性黄色肉芽腫 juvenile xanthogranuloma https://monarchinitiative.org/MONDO:0015534 NANDO:2200068 http://nanbyodata.jp/ontology/NANDO_2200068 MONDO:0015863 http://www.w3.org/2004/02/skos/core#exactMatch 多胎芽腫 polyembryoma https://monarchinitiative.org/MONDO:0015863 NANDO:2200071 http://nanbyodata.jp/ontology/NANDO_2200071 MONDO:0015864 http://www.w3.org/2004/02/skos/core#exactMatch 混合性胚細胞腫瘍 mixed germ cell tumor https://monarchinitiative.org/MONDO:0015864 NANDO:2200094 http://nanbyodata.jp/ontology/NANDO_2200094 MONDO:0016642 http://www.w3.org/2004/02/skos/core#exactMatch 髄膜腫 meningioma https://monarchinitiative.org/MONDO:0016642 NANDO:2200086 http://nanbyodata.jp/ontology/NANDO_2200086 MONDO:0016684 http://www.w3.org/2004/02/skos/core#exactMatch 退形成性星細胞腫 anaplastic astrocytoma https://monarchinitiative.org/MONDO:0016684 NANDO:2200085 http://nanbyodata.jp/ontology/NANDO_2200085 MONDO:0016686 http://www.w3.org/2004/02/skos/core#exactMatch びまん性星細胞腫 diffuse astrocytoma https://monarchinitiative.org/MONDO:0016686 NANDO:2200084 http://nanbyodata.jp/ontology/NANDO_2200084 MONDO:0016691 http://www.w3.org/2004/02/skos/core#exactMatch 毛様細胞性星細胞腫 pilocytic astrocytoma https://monarchinitiative.org/MONDO:0016691 NANDO:2200089 http://nanbyodata.jp/ontology/NANDO_2200089 MONDO:0016695 http://www.w3.org/2004/02/skos/core#exactMatch 乏突起神経膠腫 oligodendroglioma https://monarchinitiative.org/MONDO:0016695 NANDO:2200088 http://nanbyodata.jp/ontology/NANDO_2200088 MONDO:0016698 http://www.w3.org/2004/02/skos/core#exactMatch 上衣腫 ependymoma https://monarchinitiative.org/MONDO:0016698 NANDO:2200092 http://nanbyodata.jp/ontology/NANDO_2200092 MONDO:0016723 http://www.w3.org/2004/02/skos/core#exactMatch 松果体腫 pineocytoma https://monarchinitiative.org/MONDO:0016723 NANDO:2200097 http://nanbyodata.jp/ontology/NANDO_2200097 MONDO:0016730 http://www.w3.org/2004/02/skos/core#exactMatch 神経節腫 gangliocytoma https://monarchinitiative.org/MONDO:0016730 NANDO:2200096 http://nanbyodata.jp/ontology/NANDO_2200096 MONDO:0016733 http://www.w3.org/2004/02/skos/core#exactMatch 神経節膠腫 ganglioglioma https://monarchinitiative.org/MONDO:0016733 NANDO:2200102 http://nanbyodata.jp/ontology/NANDO_2200102 MONDO:0017827 http://www.w3.org/2004/02/skos/core#exactMatch 悪性腹膜神経鞘腫 malignant peripheral nerve sheath tumor https://monarchinitiative.org/MONDO:0017827 NANDO:2200038 http://nanbyodata.jp/ontology/NANDO_2200038 MONDO:0018153 http://www.w3.org/2004/02/skos/core#exactMatch エルドハイム・チェスター病 Erdheim-Chester disease https://monarchinitiative.org/MONDO:0018153 NANDO:2200087 http://nanbyodata.jp/ontology/NANDO_2200087 MONDO:0018177 http://www.w3.org/2004/02/skos/core#exactMatch 膠芽腫 glioblastoma https://monarchinitiative.org/MONDO:0018177 NANDO:2200054 http://nanbyodata.jp/ontology/NANDO_2200054 MONDO:0018271 http://www.w3.org/2004/02/skos/core#closeMatch 未分化神経外胚葉性腫瘍(末梢性のものに限る。) peripheral primitive neuroectodermal tumor https://monarchinitiative.org/MONDO:0018271 NANDO:2200055 http://nanbyodata.jp/ontology/NANDO_2200055 MONDO:0018271 http://www.w3.org/2004/02/skos/core#exactMatch 未分化神経外胚葉性腫瘍(末梢性のものに限る。) peripheral primitive neuroectodermal tumor https://monarchinitiative.org/MONDO:0018271 NANDO:2200046 http://nanbyodata.jp/ontology/NANDO_2200046 MONDO:0018666 http://www.w3.org/2004/02/skos/core#exactMatch 肝芽腫 hepatoblastoma https://monarchinitiative.org/MONDO:0018666 NANDO:2200123 http://nanbyodata.jp/ontology/NANDO_2200123 MONDO:0018904 http://www.w3.org/2004/02/skos/core#closeMatch 一次性膜性増殖性糸球体腎炎 primary membranoproliferative glomerulonephritis https://monarchinitiative.org/MONDO:0018904 NANDO:2200091 http://nanbyodata.jp/ontology/NANDO_2200091 MONDO:0018907 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋咽頭腫 craniopharyngioma https://monarchinitiative.org/MONDO:0018907 NANDO:2200043 http://nanbyodata.jp/ontology/NANDO_2200043 MONDO:0019004 http://www.w3.org/2004/02/skos/core#exactMatch 腎ウィルムス腫瘍 kidney Wilms tumor https://monarchinitiative.org/MONDO:0019004 NANDO:2200082 http://nanbyodata.jp/ontology/NANDO_2200082 MONDO:0019035 http://www.w3.org/2004/02/skos/core#exactMatch 膵芽腫 pancreatoblastoma https://monarchinitiative.org/MONDO:0019035 NANDO:2200059 http://nanbyodata.jp/ontology/NANDO_2200059 MONDO:0019373 http://www.w3.org/2004/02/skos/core#exactMatch 線維形成性小円形細胞腫瘍 desmoplastic small round cell tumor https://monarchinitiative.org/MONDO:0019373 NANDO:2200036 http://nanbyodata.jp/ontology/NANDO_2200036 MONDO:0019480 http://www.w3.org/2004/02/skos/core#exactMatch ランゲルハンス細胞肉腫 Langerhans cell sarcoma https://monarchinitiative.org/MONDO:0019480 NANDO:2200118 http://nanbyodata.jp/ontology/NANDO_2200118 MONDO:0020022 http://www.w3.org/2004/02/skos/core#exactMatch 中枢神経奇形症候群 central nervous system malformation https://monarchinitiative.org/MONDO:0020022 NANDO:2200101 http://nanbyodata.jp/ontology/NANDO_2200101 MONDO:0020560 http://www.w3.org/2004/02/skos/core#exactMatch 異型奇形腫瘍/ラブドイド腫瘍 atypical teratoid rhabdoid tumor https://monarchinitiative.org/MONDO:0020560 NANDO:2200076 http://nanbyodata.jp/ontology/NANDO_2200076 MONDO:0000521 http://www.w3.org/2004/02/skos/core#exactMatch "" salivary gland carcinoma https://monarchinitiative.org/MONDO:0000521 NANDO:2200099 http://nanbyodata.jp/ontology/NANDO_2200099 MONDO:0000640 http://www.w3.org/2004/02/skos/core#exactMatch "" central nervous system primitive neuroectodermal neoplasm https://monarchinitiative.org/MONDO:0000640 NANDO:2200074 http://nanbyodata.jp/ontology/NANDO_2200074 MONDO:0002108 http://www.w3.org/2004/02/skos/core#exactMatch "" thyroid cancer https://monarchinitiative.org/MONDO:0002108 NANDO:2200123 http://nanbyodata.jp/ontology/NANDO_2200123 MONDO:0002461 http://www.w3.org/2004/02/skos/core#exactMatch "" membranoproliferative glomerulonephritis https://monarchinitiative.org/MONDO:0002461 NANDO:2200089 http://nanbyodata.jp/ontology/NANDO_2200089 MONDO:0002540 http://www.w3.org/2004/02/skos/core#closeMatch "" childhood oligodendroglioma https://monarchinitiative.org/MONDO:0002540 NANDO:2200089 http://nanbyodata.jp/ontology/NANDO_2200089 MONDO:0002543 http://www.w3.org/2004/02/skos/core#closeMatch "" adult oligodendroglioma https://monarchinitiative.org/MONDO:0002543 NANDO:2200048 http://nanbyodata.jp/ontology/NANDO_2200048 MONDO:0002623 http://www.w3.org/2004/02/skos/core#closeMatch "" pediatric osteosarcoma https://monarchinitiative.org/MONDO:0002623 NANDO:2200060 http://nanbyodata.jp/ontology/NANDO_2200060 MONDO:0002676 http://www.w3.org/2004/02/skos/core#closeMatch "" adult fibrosarcoma https://monarchinitiative.org/MONDO:0002676 NANDO:2200060 http://nanbyodata.jp/ontology/NANDO_2200060 MONDO:0002678 http://www.w3.org/2004/02/skos/core#closeMatch "" pediatric fibrosarcoma https://monarchinitiative.org/MONDO:0002678 NANDO:2200090 http://nanbyodata.jp/ontology/NANDO_2200090 MONDO:0002794 http://www.w3.org/2004/02/skos/core#closeMatch "" adult medulloblastoma https://monarchinitiative.org/MONDO:0002794 NANDO:2200090 http://nanbyodata.jp/ontology/NANDO_2200090 MONDO:0002797 http://www.w3.org/2004/02/skos/core#closeMatch "" childhood medulloblastoma https://monarchinitiative.org/MONDO:0002797 NANDO:2200081 http://nanbyodata.jp/ontology/NANDO_2200081 MONDO:0002807 http://www.w3.org/2004/02/skos/core#exactMatch "" bronchial neoplasm https://monarchinitiative.org/MONDO:0002807 NANDO:2200062 http://nanbyodata.jp/ontology/NANDO_2200062 MONDO:0002926 http://www.w3.org/2004/02/skos/core#exactMatch "" clear cell sarcoma https://monarchinitiative.org/MONDO:0002926 NANDO:2200066 http://nanbyodata.jp/ontology/NANDO_2200066 MONDO:0003002 http://www.w3.org/2004/02/skos/core#exactMatch "" dysgerminoma https://monarchinitiative.org/MONDO:0003002 NANDO:2200094 http://nanbyodata.jp/ontology/NANDO_2200094 MONDO:0003057 http://www.w3.org/2004/02/skos/core#closeMatch "" pediatric meningioma https://monarchinitiative.org/MONDO:0003057 NANDO:2200122 http://nanbyodata.jp/ontology/NANDO_2200122 MONDO:0003139 http://www.w3.org/2004/02/skos/core#exactMatch "" mesangial proliferative glomerulonephritis https://monarchinitiative.org/MONDO:0003139 NANDO:2200105 http://nanbyodata.jp/ontology/NANDO_2200105 MONDO:0003517 http://www.w3.org/2004/02/skos/core#exactMatch "" mature teratoma https://monarchinitiative.org/MONDO:0003517 NANDO:2200065 http://nanbyodata.jp/ontology/NANDO_2200065 MONDO:0003585 http://www.w3.org/2004/02/skos/core#closeMatch "" adult liposarcoma https://monarchinitiative.org/MONDO:0003585 NANDO:2200065 http://nanbyodata.jp/ontology/NANDO_2200065 MONDO:0003587 http://www.w3.org/2004/02/skos/core#closeMatch "" pediatric liposarcoma https://monarchinitiative.org/MONDO:0003587 NANDO:2200069 http://nanbyodata.jp/ontology/NANDO_2200069 MONDO:0003759 http://www.w3.org/2004/02/skos/core#closeMatch "" childhood ovarian yolk sac tumor https://monarchinitiative.org/MONDO:0003759 NANDO:2200084 http://nanbyodata.jp/ontology/NANDO_2200084 MONDO:0004000 http://www.w3.org/2004/02/skos/core#closeMatch "" childhood pilocytic astrocytoma https://monarchinitiative.org/MONDO:0004000 NANDO:2200108 http://nanbyodata.jp/ontology/NANDO_2200108 MONDO:0004218 http://www.w3.org/2004/02/skos/core#exactMatch "" childhood germ cell brain tumor https://monarchinitiative.org/MONDO:0004218 NANDO:2200078 http://nanbyodata.jp/ontology/NANDO_2200078 MONDO:0004974 http://www.w3.org/2004/02/skos/core#exactMatch "" adrenal gland pheochromocytoma https://monarchinitiative.org/MONDO:0004974 NANDO:2200051 http://nanbyodata.jp/ontology/NANDO_2200051 MONDO:0004997 http://www.w3.org/2004/02/skos/core#exactMatch "" chondroblastoma https://monarchinitiative.org/MONDO:0004997 NANDO:2200058 http://nanbyodata.jp/ontology/NANDO_2200058 MONDO:0005102 http://www.w3.org/2004/02/skos/core#exactMatch "" undifferentiated (embryonal) sarcoma https://monarchinitiative.org/MONDO:0005102 NANDO:2200077 http://nanbyodata.jp/ontology/NANDO_2200077 MONDO:0005105 http://www.w3.org/2004/02/skos/core#exactMatch "" melanoma https://monarchinitiative.org/MONDO:0005105 NANDO:2200070 http://nanbyodata.jp/ontology/NANDO_2200070 MONDO:0005207 http://www.w3.org/2004/02/skos/core#exactMatch "" choriocarcinoma https://monarchinitiative.org/MONDO:0005207 NANDO:2200113 http://nanbyodata.jp/ontology/NANDO_2200113 MONDO:0005363 http://www.w3.org/2004/02/skos/core#exactMatch "" inherited focal segmental glomerulosclerosis https://monarchinitiative.org/MONDO:0005363 NANDO:2200114 http://nanbyodata.jp/ontology/NANDO_2200114 MONDO:0005376 http://www.w3.org/2004/02/skos/core#exactMatch "" membranous glomerulonephritis https://monarchinitiative.org/MONDO:0005376 NANDO:2200045 http://nanbyodata.jp/ontology/NANDO_2200045 MONDO:0005549 http://www.w3.org/2004/02/skos/core#closeMatch "" renal cell adenocarcinoma https://monarchinitiative.org/MONDO:0005549 NANDO:2200072 http://nanbyodata.jp/ontology/NANDO_2200072 MONDO:0006055 http://www.w3.org/2004/02/skos/core#exactMatch "" sex cord-stromal tumor https://monarchinitiative.org/MONDO:0006055 NANDO:2200052 http://nanbyodata.jp/ontology/NANDO_2200052 MONDO:0006287 http://www.w3.org/2004/02/skos/core#exactMatch "" malignancy in giant cell tumor of bone https://monarchinitiative.org/MONDO:0006287 NANDO:2200107 http://nanbyodata.jp/ontology/NANDO_2200107 MONDO:0006444 http://www.w3.org/2004/02/skos/core#exactMatch "" teratoma with malignant transformation https://monarchinitiative.org/MONDO:0006444 NANDO:2200112 http://nanbyodata.jp/ontology/NANDO_2200112 MONDO:0006835 http://www.w3.org/2004/02/skos/core#exactMatch "" lipoid nephrosis https://monarchinitiative.org/MONDO:0006835 NANDO:2200048 http://nanbyodata.jp/ontology/NANDO_2200048 MONDO:0009807 http://www.w3.org/2004/02/skos/core#exactMatch "" osteosarcoma https://monarchinitiative.org/MONDO:0009807 NANDO:2200111 http://nanbyodata.jp/ontology/NANDO_2200111 MONDO:0019654 http://www.w3.org/2004/02/skos/core#exactMatch "" familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis https://monarchinitiative.org/MONDO:0019654 NANDO:2200087 http://nanbyodata.jp/ontology/NANDO_2200087 MONDO:0020690 http://www.w3.org/2004/02/skos/core#closeMatch "" adult glioblastoma https://monarchinitiative.org/MONDO:0020690 NANDO:2200106 http://nanbyodata.jp/ontology/NANDO_2200106 MONDO:0024746 http://www.w3.org/2004/02/skos/core#exactMatch "" immature teratoma https://monarchinitiative.org/MONDO:0024746 NANDO:2200153 http://nanbyodata.jp/ontology/NANDO_2200153 MONDO:0004691 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体顕性多嚢胞性腎疾患 autosomal dominant polycystic kidney disease https://monarchinitiative.org/MONDO:0004691 NANDO:2200138 http://nanbyodata.jp/ontology/NANDO_2200138 MONDO:0007099 http://www.w3.org/2004/02/skos/core#closeMatch 家族性内蔵アミロイドーシス familial visceral amyloidosis https://monarchinitiative.org/MONDO:0007099 NANDO:2200133 http://nanbyodata.jp/ontology/NANDO_2200133 MONDO:0007671 http://www.w3.org/2004/02/skos/core#exactMatch フィブロネクチン糸球体症 fibronectin glomerulopathy https://monarchinitiative.org/MONDO:0007671 NANDO:2200190 http://nanbyodata.jp/ontology/NANDO_2200190 MONDO:0007879 http://www.w3.org/2004/02/skos/core#closeMatch 喉頭閉鎖症 larynx atresia https://monarchinitiative.org/MONDO:0007879 NANDO:2200132 http://nanbyodata.jp/ontology/NANDO_2200132 MONDO:0008061 http://www.w3.org/2004/02/skos/core#exactMatch ネイル・パテラ症候群 nail-patella syndrome https://monarchinitiative.org/MONDO:0008061 NANDO:2200125 http://nanbyodata.jp/ontology/NANDO_2200125 MONDO:0009303 http://www.w3.org/2004/02/skos/core#exactMatch 抗糸球体基底膜抗体症 anti-glomerular basement membrane disease https://monarchinitiative.org/MONDO:0009303 NANDO:2200140 http://nanbyodata.jp/ontology/NANDO_2200140 MONDO:0009728 http://www.w3.org/2004/02/skos/core#closeMatch ネフロン癆1 nephronophthisis 1 https://monarchinitiative.org/MONDO:0009728 NANDO:2200154 http://nanbyodata.jp/ontology/NANDO_2200154 MONDO:0009889 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性多嚢胞性腎疾患 autosomal recessive polycystic kidney disease https://monarchinitiative.org/MONDO:0009889 NANDO:2200145 http://nanbyodata.jp/ontology/NANDO_2200145 MONDO:0009904 http://www.w3.org/2004/02/skos/core#exactMatch ギテルマン症候群 Gitelman syndrome https://monarchinitiative.org/MONDO:0009904 NANDO:2200134 http://nanbyodata.jp/ontology/NANDO_2200134 MONDO:0012725 http://www.w3.org/2004/02/skos/core#exactMatch リポタンパク糸球体症 lipoprotein glomerulopathy https://monarchinitiative.org/MONDO:0012725 NANDO:2200146 http://nanbyodata.jp/ontology/NANDO_2200146 MONDO:0015231 http://www.w3.org/2004/02/skos/core#exactMatch バーター病 Bartter syndrome https://monarchinitiative.org/MONDO:0015231 NANDO:2200190 http://nanbyodata.jp/ontology/NANDO_2200190 MONDO:0015395 http://www.w3.org/2004/02/skos/core#closeMatch 先天性声門下狭窄症 congenital subglottic stenosis https://monarchinitiative.org/MONDO:0015395 NANDO:2200131 http://nanbyodata.jp/ontology/NANDO_2200131 MONDO:0016244 http://www.w3.org/2004/02/skos/core#exactMatch 非典型溶血性尿毒症症候群 atypical hemolytic-uremic syndrome https://monarchinitiative.org/MONDO:0016244 NANDO:2200204 http://nanbyodata.jp/ontology/NANDO_2200204 MONDO:0016575 http://www.w3.org/2004/02/skos/core#closeMatch 原発性線毛機能不全症 primary ciliary dyskinesia https://monarchinitiative.org/MONDO:0016575 NANDO:2200126 http://nanbyodata.jp/ontology/NANDO_2200126 MONDO:0018965 http://www.w3.org/2004/02/skos/core#exactMatch アルポート症候群 Alport syndrome https://monarchinitiative.org/MONDO:0018965 NANDO:2200170 http://nanbyodata.jp/ontology/NANDO_2200170 MONDO:0019005 http://www.w3.org/2004/02/skos/core#closeMatch ネフロン癆 nephronophthisis https://monarchinitiative.org/MONDO:0019005 NANDO:2200140 http://nanbyodata.jp/ontology/NANDO_2200140 MONDO:0019005 http://www.w3.org/2004/02/skos/core#exactMatch ネフロン癆 nephronophthisis https://monarchinitiative.org/MONDO:0019005 NANDO:2200138 http://nanbyodata.jp/ontology/NANDO_2200138 MONDO:0019065 http://www.w3.org/2004/02/skos/core#closeMatch アミロイドーシス amyloidosis https://monarchinitiative.org/MONDO:0019065 NANDO:2200155 http://nanbyodata.jp/ontology/NANDO_2200155 MONDO:0019637 http://www.w3.org/2004/02/skos/core#exactMatch 低形成腎 renal hypoplasia https://monarchinitiative.org/MONDO:0019637 NANDO:2200139 http://nanbyodata.jp/ontology/NANDO_2200139 MONDO:0000608 http://www.w3.org/2004/02/skos/core#exactMatch "" familial juvenile hyperuricemic nephropathy https://monarchinitiative.org/MONDO:0000608 NANDO:2200136 http://nanbyodata.jp/ontology/NANDO_2200136 MONDO:0001085 http://www.w3.org/2004/02/skos/core#exactMatch "" interstitial nephritis https://monarchinitiative.org/MONDO:0001085 NANDO:2200141 http://nanbyodata.jp/ontology/NANDO_2200141 MONDO:0001105 http://www.w3.org/2004/02/skos/core#closeMatch "" renal hypertension https://monarchinitiative.org/MONDO:0001105 NANDO:2200137 http://nanbyodata.jp/ontology/NANDO_2200137 MONDO:0001110 http://www.w3.org/2004/02/skos/core#exactMatch "" chronic pyelonephritis https://monarchinitiative.org/MONDO:0001110 NANDO:2200144 http://nanbyodata.jp/ontology/NANDO_2200144 MONDO:0001909 http://www.w3.org/2004/02/skos/core#exactMatch "" renal tubular acidosis https://monarchinitiative.org/MONDO:0001909 NANDO:2200128 http://nanbyodata.jp/ontology/NANDO_2200128 MONDO:0005556 http://www.w3.org/2004/02/skos/core#exactMatch "" lupus nephritis https://monarchinitiative.org/MONDO:0005556 NANDO:2200141 http://nanbyodata.jp/ontology/NANDO_2200141 MONDO:0006947 http://www.w3.org/2004/02/skos/core#exactMatch "" renovascular hypertension https://monarchinitiative.org/MONDO:0006947 NANDO:2200152 http://nanbyodata.jp/ontology/NANDO_2200152 MONDO:0020642 http://www.w3.org/2004/02/skos/core#exactMatch "" polycystic kidney disease https://monarchinitiative.org/MONDO:0020642 NANDO:2200199 http://nanbyodata.jp/ontology/NANDO_2200199 MONDO:0002429 http://www.w3.org/2004/02/skos/core#exactMatch 特発性間質性肺炎 idiopathic interstitial pneumonia https://monarchinitiative.org/MONDO:0002429 NANDO:2200210 http://nanbyodata.jp/ontology/NANDO_2200210 MONDO:0005711 http://www.w3.org/2004/02/skos/core#exactMatch 先天性横隔膜ヘルニア congenital diaphragmatic hernia https://monarchinitiative.org/MONDO:0005711 NANDO:2200185 http://nanbyodata.jp/ontology/NANDO_2200185 MONDO:0007032 http://www.w3.org/2004/02/skos/core#exactMatch Prune belly症候群 prune belly syndrome https://monarchinitiative.org/MONDO:0007032 NANDO:2200207 http://nanbyodata.jp/ontology/NANDO_2200207 MONDO:0008346 http://www.w3.org/2004/02/skos/core#exactMatch 肺血鉄症 pulmonary hemosiderosis https://monarchinitiative.org/MONDO:0008346 NANDO:2200183 http://nanbyodata.jp/ontology/NANDO_2200183 MONDO:0008628 http://www.w3.org/2004/02/skos/core#exactMatch 尿管瘤 ureterocele https://monarchinitiative.org/MONDO:0008628 NANDO:2200205 http://nanbyodata.jp/ontology/NANDO_2200205 MONDO:0009061 http://www.w3.org/2004/02/skos/core#exactMatch 嚢胞性線維症 cystic fibrosis https://monarchinitiative.org/MONDO:0009061 NANDO:2200202 http://nanbyodata.jp/ontology/NANDO_2200202 MONDO:0009928 http://www.w3.org/2004/02/skos/core#exactMatch 肺胞微石症 pulmonary alveolar microlithiasis https://monarchinitiative.org/MONDO:0009928 NANDO:2200188 http://nanbyodata.jp/ontology/NANDO_2200188 MONDO:0010645 http://www.w3.org/2004/02/skos/core#exactMatch 眼腎脳症候群 oculocerebrorenal syndrome https://monarchinitiative.org/MONDO:0010645 NANDO:2200197 http://nanbyodata.jp/ontology/NANDO_2200197 MONDO:0010940 http://www.w3.org/2004/02/skos/core#exactMatch 気管支喘息に対する遺伝的感受性 inherited susceptibility to asthma https://monarchinitiative.org/MONDO:0010940 NANDO:2200200 http://nanbyodata.jp/ontology/NANDO_2200200 MONDO:0012580 http://www.w3.org/2004/02/skos/core#exactMatch 肺胞蛋白症 hereditary pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0012580 NANDO:2200209 http://nanbyodata.jp/ontology/NANDO_2200209 MONDO:0015265 http://www.w3.org/2004/02/skos/core#exactMatch 閉塞性細気管支炎症候群 bronchiolitis obliterans syndrome https://monarchinitiative.org/MONDO:0015265 NANDO:2200173 http://nanbyodata.jp/ontology/NANDO_2200173 MONDO:0015268 http://www.w3.org/2004/02/skos/core#exactMatch 髄質海綿腎 medullary sponge kidney https://monarchinitiative.org/MONDO:0015268 NANDO:2200158 http://nanbyodata.jp/ontology/NANDO_2200158 MONDO:0015988 http://www.w3.org/2004/02/skos/core#exactMatch 多嚢胞性異形成腎 multicystic dysplastic kidney https://monarchinitiative.org/MONDO:0015988 NANDO:2200159 http://nanbyodata.jp/ontology/NANDO_2200159 MONDO:0016407 http://www.w3.org/2004/02/skos/core#exactMatch 寡巨大糸球体症 oligomeganephronia https://monarchinitiative.org/MONDO:0016407 NANDO:2200203 http://nanbyodata.jp/ontology/NANDO_2200203 MONDO:0016575 http://www.w3.org/2004/02/skos/core#exactMatch 原発性線毛機能不全症 primary ciliary dyskinesia https://monarchinitiative.org/MONDO:0016575 NANDO:2200156 http://nanbyodata.jp/ontology/NANDO_2200156 MONDO:0018470 http://www.w3.org/2004/02/skos/core#exactMatch 腎無形成 renal agenesis https://monarchinitiative.org/MONDO:0018470 NANDO:2200184 http://nanbyodata.jp/ontology/NANDO_2200184 MONDO:0018960 http://www.w3.org/2004/02/skos/core#exactMatch 先天性原発性巨大尿管症 congenital primary megaureter https://monarchinitiative.org/MONDO:0018960 NANDO:2200161 http://nanbyodata.jp/ontology/NANDO_2200161 MONDO:0019638 http://www.w3.org/2004/02/skos/core#exactMatch 腎異形成 renal dysplasia https://monarchinitiative.org/MONDO:0019638 NANDO:2200177 http://nanbyodata.jp/ontology/NANDO_2200177 MONDO:0019639 http://www.w3.org/2004/02/skos/core#exactMatch 巨大腎杯症 congenital megacalycosis https://monarchinitiative.org/MONDO:0019639 NANDO:2200195 http://nanbyodata.jp/ontology/NANDO_2200195 MONDO:0019804 http://www.w3.org/2004/02/skos/core#exactMatch 気管軟化症 tracheomalacia https://monarchinitiative.org/MONDO:0019804 NANDO:2200171 http://nanbyodata.jp/ontology/NANDO_2200171 MONDO:0019983 http://www.w3.org/2004/02/skos/core#exactMatch 多房性腎嚢胞 multiloculated renal cyst https://monarchinitiative.org/MONDO:0019983 NANDO:2200187 http://nanbyodata.jp/ontology/NANDO_2200187 MONDO:0001083 http://www.w3.org/2004/02/skos/core#exactMatch "" Fanconi renotubular syndrome https://monarchinitiative.org/MONDO:0001083 NANDO:2200213 http://nanbyodata.jp/ontology/NANDO_2200213 MONDO:0001261 http://www.w3.org/2004/02/skos/core#exactMatch "" Mobitz type II atrioventricular block https://monarchinitiative.org/MONDO:0001261 NANDO:2200157 http://nanbyodata.jp/ontology/NANDO_2200157 MONDO:0001558 http://www.w3.org/2004/02/skos/core#exactMatch "" Potter sequence https://monarchinitiative.org/MONDO:0001558 NANDO:2200212 http://nanbyodata.jp/ontology/NANDO_2200212 MONDO:0001823 http://www.w3.org/2004/02/skos/core#exactMatch "" sick sinus syndrome https://monarchinitiative.org/MONDO:0001823 NANDO:2200172 http://nanbyodata.jp/ontology/NANDO_2200172 MONDO:0002473 http://www.w3.org/2004/02/skos/core#exactMatch "" cystic kidney disease https://monarchinitiative.org/MONDO:0002473 NANDO:2200194 http://nanbyodata.jp/ontology/NANDO_2200194 MONDO:0002568 http://www.w3.org/2004/02/skos/core#exactMatch "" tracheal stenosis https://monarchinitiative.org/MONDO:0002568 NANDO:2200178 http://nanbyodata.jp/ontology/NANDO_2200178 MONDO:0003330 http://www.w3.org/2004/02/skos/core#exactMatch "" urinary tract obstruction https://monarchinitiative.org/MONDO:0003330 NANDO:2200206 http://nanbyodata.jp/ontology/NANDO_2200206 MONDO:0004822 http://www.w3.org/2004/02/skos/core#exactMatch "" bronchiectasis https://monarchinitiative.org/MONDO:0004822 NANDO:2200179 http://nanbyodata.jp/ontology/NANDO_2200179 MONDO:0006007 http://www.w3.org/2004/02/skos/core#exactMatch "" vesicoureteral reflux https://monarchinitiative.org/MONDO:0006007 NANDO:2200176 http://nanbyodata.jp/ontology/NANDO_2200176 MONDO:0007741 http://www.w3.org/2004/02/skos/core#exactMatch "" congenital hydronephrosis https://monarchinitiative.org/MONDO:0007741 NANDO:2200258 http://nanbyodata.jp/ontology/NANDO_2200258 MONDO:0000153 http://www.w3.org/2004/02/skos/core#exactMatch 完全大血管転位症 transposition of the great arteries https://monarchinitiative.org/MONDO:0000153 NANDO:2200249 http://nanbyodata.jp/ontology/NANDO_2200249 MONDO:0004933 http://www.w3.org/2004/02/skos/core#exactMatch 左心低形成症候群 hypoplastic left heart syndrome https://monarchinitiative.org/MONDO:0004933 NANDO:2200232 http://nanbyodata.jp/ontology/NANDO_2200232 MONDO:0005021 http://www.w3.org/2004/02/skos/core#exactMatch 拡張型心筋症 dilated cardiomyopathy https://monarchinitiative.org/MONDO:0005021 NANDO:2200229 http://nanbyodata.jp/ontology/NANDO_2200229 MONDO:0005045 http://www.w3.org/2004/02/skos/core#exactMatch 肥大型心筋症 hypertrophic cardiomyopathy https://monarchinitiative.org/MONDO:0005045 NANDO:2200233 http://nanbyodata.jp/ontology/NANDO_2200233 MONDO:0005201 http://www.w3.org/2004/02/skos/core#exactMatch 拘束型心筋症 restrictive cardiomyopathy https://monarchinitiative.org/MONDO:0005201 NANDO:2200271 http://nanbyodata.jp/ontology/NANDO_2200271 MONDO:0007130 http://www.w3.org/2004/02/skos/core#exactMatch 先天性総肺静脈還流異常症 congenital total pulmonary venous return anomaly https://monarchinitiative.org/MONDO:0007130 NANDO:2200284 http://nanbyodata.jp/ontology/NANDO_2200284 MONDO:0007345 http://www.w3.org/2004/02/skos/core#closeMatch 大動脈縮窄症 aorta coarctation https://monarchinitiative.org/MONDO:0007345 NANDO:2200283 http://nanbyodata.jp/ontology/NANDO_2200283 MONDO:0007345 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈縮窄症 aorta coarctation https://monarchinitiative.org/MONDO:0007345 NANDO:2200252 http://nanbyodata.jp/ontology/NANDO_2200252 MONDO:0008343 http://www.w3.org/2004/02/skos/core#exactMatch 心室中隔欠損を伴う肺動脈閉鎖症 pulmonary atresia with ventricular septal defect https://monarchinitiative.org/MONDO:0008343 NANDO:2200285 http://nanbyodata.jp/ontology/NANDO_2200285 MONDO:0008504 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弁上狭窄症 supravalvular aortic stenosis https://monarchinitiative.org/MONDO:0008504 NANDO:2200254 http://nanbyodata.jp/ontology/NANDO_2200254 MONDO:0008542 http://www.w3.org/2004/02/skos/core#exactMatch ファロー四徴症 tetralogy of fallot https://monarchinitiative.org/MONDO:0008542 NANDO:2200286 http://nanbyodata.jp/ontology/NANDO_2200286 MONDO:0008678 http://www.w3.org/2004/02/skos/core#exactMatch ウィリアムズ症候群 Williams syndrome https://monarchinitiative.org/MONDO:0008678 NANDO:2200217 http://nanbyodata.jp/ontology/NANDO_2200217 MONDO:0008685 http://www.w3.org/2004/02/skos/core#exactMatch ウォルフ・パーキンソン・ホワイト症候群 Wolff-Parkinson-White syndrome https://monarchinitiative.org/MONDO:0008685 NANDO:2200288 http://nanbyodata.jp/ontology/NANDO_2200288 MONDO:0009010 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弓離断症 aortic arch interruption https://monarchinitiative.org/MONDO:0009010 NANDO:2200260 http://nanbyodata.jp/ontology/NANDO_2200260 MONDO:0009144 http://www.w3.org/2004/02/skos/core#exactMatch エプスタイン病 Ebstein anomaly https://monarchinitiative.org/MONDO:0009144 NANDO:2200235 http://nanbyodata.jp/ontology/NANDO_2200235 MONDO:0009169 http://www.w3.org/2004/02/skos/core#exactMatch 心内膜線維弾性症 endocardial fibroelastosis https://monarchinitiative.org/MONDO:0009169 NANDO:2200214 http://nanbyodata.jp/ontology/NANDO_2200214 MONDO:0009326 http://www.w3.org/2004/02/skos/core#closeMatch 先天性心ブロック congenital heart block https://monarchinitiative.org/MONDO:0009326 NANDO:2200253 http://nanbyodata.jp/ontology/NANDO_2200253 MONDO:0009931 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈閉鎖症-心室中隔欠損を伴わない pulmonary atresia-intact ventricular septum syndrome https://monarchinitiative.org/MONDO:0009931 NANDO:2200251 http://nanbyodata.jp/ontology/NANDO_2200251 MONDO:0011514 http://www.w3.org/2004/02/skos/core#exactMatch 三尖弁閉鎖症 tricuspid atresia https://monarchinitiative.org/MONDO:0011514 NANDO:2200293 http://nanbyodata.jp/ontology/NANDO_2200293 MONDO:0015197 http://www.w3.org/2004/02/skos/core#exactMatch バルサルバ洞動脈瘤 aneurysm of sinus of Valsalva https://monarchinitiative.org/MONDO:0015197 NANDO:2200269 http://nanbyodata.jp/ontology/NANDO_2200269 MONDO:0015273 http://www.w3.org/2004/02/skos/core#exactMatch 完全型房室中隔欠損症 complete atrioventricular canal https://monarchinitiative.org/MONDO:0015273 NANDO:2200268 http://nanbyodata.jp/ontology/NANDO_2200268 MONDO:0015275 http://www.w3.org/2004/02/skos/core#exactMatch 不完全型房室中隔欠損症 partial atrioventricular canal https://monarchinitiative.org/MONDO:0015275 NANDO:2200284 http://nanbyodata.jp/ontology/NANDO_2200284 MONDO:0015446 http://www.w3.org/2004/02/skos/core#closeMatch 大動脈縮窄複合 atypical coarctation of aorta https://monarchinitiative.org/MONDO:0015446 NANDO:2200263 http://nanbyodata.jp/ontology/NANDO_2200263 MONDO:0015450 http://www.w3.org/2004/02/skos/core#exactMatch 三心房心 triatrial heart https://monarchinitiative.org/MONDO:0015450 NANDO:2200250 http://nanbyodata.jp/ontology/NANDO_2200250 MONDO:0015451 http://www.w3.org/2004/02/skos/core#exactMatch 単心室症 univentricular heart https://monarchinitiative.org/MONDO:0015451 NANDO:2200234 http://nanbyodata.jp/ontology/NANDO_2200234 MONDO:0015677 http://www.w3.org/2004/02/skos/core#closeMatch 心室瘤 cardiac diverticulum https://monarchinitiative.org/MONDO:0015677 NANDO:2200298 http://nanbyodata.jp/ontology/NANDO_2200298 MONDO:0015924 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈性肺高血圧症 pulmonary arterial hypertension https://monarchinitiative.org/MONDO:0015924 NANDO:2200296 http://nanbyodata.jp/ontology/NANDO_2200296 MONDO:0016081 http://www.w3.org/2004/02/skos/core#exactMatch 冠動脈瘻 coronary arterial fistulas https://monarchinitiative.org/MONDO:0016081 NANDO:2200259 http://nanbyodata.jp/ontology/NANDO_2200259 MONDO:0016301 http://www.w3.org/2004/02/skos/core#exactMatch 完全大血管転位症 congenitally corrected transposition of the great arteries https://monarchinitiative.org/MONDO:0016301 NANDO:2200275 http://nanbyodata.jp/ontology/NANDO_2200275 MONDO:0016581 http://www.w3.org/2004/02/skos/core#exactMatch 右室二腔症 conotruncal heart malformations https://monarchinitiative.org/MONDO:0016581 NANDO:2200230 http://nanbyodata.jp/ontology/NANDO_2200230 MONDO:0016587 http://www.w3.org/2004/02/skos/core#exactMatch 不整脈源性右室心筋症 arrhythmogenic right ventricular cardiomyopathy https://monarchinitiative.org/MONDO:0016587 NANDO:2200273 http://nanbyodata.jp/ontology/NANDO_2200273 MONDO:0017864 http://www.w3.org/2004/02/skos/core#exactMatch 先天性肺静脈狭窄症 congenital pulmonary veins atresia or stenosis https://monarchinitiative.org/MONDO:0017864 NANDO:2200278 http://nanbyodata.jp/ontology/NANDO_2200278 MONDO:0017870 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈弁上狭窄症 supravalvular pulmonary stenosis https://monarchinitiative.org/MONDO:0017870 NANDO:2200216 http://nanbyodata.jp/ontology/NANDO_2200216 MONDO:0017990 http://www.w3.org/2004/02/skos/core#closeMatch カテコラミン誘発性多形性心室性頻拍 catecholaminergic polymorphic ventricular tachycardia https://monarchinitiative.org/MONDO:0017990 NANDO:2200221 http://nanbyodata.jp/ontology/NANDO_2200221 MONDO:0017990 http://www.w3.org/2004/02/skos/core#exactMatch カテコラミン誘発性多形性心室性頻拍 catecholaminergic polymorphic ventricular tachycardia https://monarchinitiative.org/MONDO:0017990 NANDO:2200261 http://nanbyodata.jp/ontology/NANDO_2200261 MONDO:0018072 http://www.w3.org/2004/02/skos/core#exactMatch 総動脈幹遺残症 persistent truncus arteriosus https://monarchinitiative.org/MONDO:0018072 NANDO:2200256 http://nanbyodata.jp/ontology/NANDO_2200256 MONDO:0018089 http://www.w3.org/2004/02/skos/core#exactMatch 両大血管右室起始症 double outlet right ventricle https://monarchinitiative.org/MONDO:0018089 NANDO:2200257 http://nanbyodata.jp/ontology/NANDO_2200257 MONDO:0018090 http://www.w3.org/2004/02/skos/core#exactMatch 両大血管左室起始症 double outlet left ventricle https://monarchinitiative.org/MONDO:0018090 NANDO:2200231 http://nanbyodata.jp/ontology/NANDO_2200231 MONDO:0018901 http://www.w3.org/2004/02/skos/core#exactMatch 心筋緻密化障害 left ventricular noncompaction https://monarchinitiative.org/MONDO:0018901 NANDO:2200228 http://nanbyodata.jp/ontology/NANDO_2200228 MONDO:0019171 http://www.w3.org/2004/02/skos/core#closeMatch 家族性QT延長症候群 familial long QT syndrome https://monarchinitiative.org/MONDO:0019171 NANDO:2200282 http://nanbyodata.jp/ontology/NANDO_2200282 MONDO:0020007 http://www.w3.org/2004/02/skos/core#exactMatch 一側肺動脈欠損 absence of the pulmonary artery https://monarchinitiative.org/MONDO:0020007 NANDO:2200280 http://nanbyodata.jp/ontology/NANDO_2200280 MONDO:0020064 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈弁欠損 pulmonary valve agenesis https://monarchinitiative.org/MONDO:0020064 NANDO:2200281 http://nanbyodata.jp/ontology/NANDO_2200281 MONDO:0020391 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈上行大動脈起始症 pulmonary artery coming from the aorta https://monarchinitiative.org/MONDO:0020391 NANDO:2200290 http://nanbyodata.jp/ontology/NANDO_2200290 MONDO:0020413 http://www.w3.org/2004/02/skos/core#exactMatch 重複大動脈弓症 encircling double aortic arch https://monarchinitiative.org/MONDO:0020413 NANDO:2200274 http://nanbyodata.jp/ontology/NANDO_2200274 MONDO:0020428 http://www.w3.org/2004/02/skos/core#exactMatch 左室右房交通症 congenital Gerbode defect https://monarchinitiative.org/MONDO:0020428 NANDO:2200266 http://nanbyodata.jp/ontology/NANDO_2200266 MONDO:0020434 http://www.w3.org/2004/02/skos/core#exactMatch 二次孔型心房中隔欠損症 atrial septal defect, ostium secundum type https://monarchinitiative.org/MONDO:0020434 NANDO:2200267 http://nanbyodata.jp/ontology/NANDO_2200267 MONDO:0020436 http://www.w3.org/2004/02/skos/core#exactMatch 静脈洞型心房中隔欠損症 atrial septal defect, sinus venosus type https://monarchinitiative.org/MONDO:0020436 NANDO:2200272 http://nanbyodata.jp/ontology/NANDO_2200272 MONDO:0020453 http://www.w3.org/2004/02/skos/core#exactMatch 部分肺静脈還流異常症 congenital partial pulmonary venous return anomaly https://monarchinitiative.org/MONDO:0020453 NANDO:2200227 http://nanbyodata.jp/ontology/NANDO_2200227 MONDO:0000190 http://www.w3.org/2004/02/skos/core#exactMatch "" ventricular fibrillation https://monarchinitiative.org/MONDO:0000190 NANDO:2200214 http://nanbyodata.jp/ontology/NANDO_2200214 MONDO:0000468 http://www.w3.org/2004/02/skos/core#exactMatch "" third-degree atrioventricular block https://monarchinitiative.org/MONDO:0000468 NANDO:2200242 http://nanbyodata.jp/ontology/NANDO_2200242 MONDO:0000811 http://www.w3.org/2004/02/skos/core#exactMatch "" anomalous left coronary artery from the pulmonary artery https://monarchinitiative.org/MONDO:0000811 NANDO:2200299 http://nanbyodata.jp/ontology/NANDO_2200299 MONDO:0001493 http://www.w3.org/2004/02/skos/core#exactMatch "" chronic pulmonary heart disease https://monarchinitiative.org/MONDO:0001493 NANDO:2200270 http://nanbyodata.jp/ontology/NANDO_2200270 MONDO:0002070 http://www.w3.org/2004/02/skos/core#exactMatch "" ventricular septal defect https://monarchinitiative.org/MONDO:0002070 NANDO:2200228 http://nanbyodata.jp/ontology/NANDO_2200228 MONDO:0002442 http://www.w3.org/2004/02/skos/core#exactMatch "" long QT syndrome https://monarchinitiative.org/MONDO:0002442 NANDO:2200301 http://nanbyodata.jp/ontology/NANDO_2200301 MONDO:0002870 http://www.w3.org/2004/02/skos/core#exactMatch "" tricuspid valve insufficiency https://monarchinitiative.org/MONDO:0002870 NANDO:2200226 http://nanbyodata.jp/ontology/NANDO_2200226 MONDO:0004981 http://www.w3.org/2004/02/skos/core#exactMatch "" atrial fibrillation https://monarchinitiative.org/MONDO:0004981 NANDO:2200248 http://nanbyodata.jp/ontology/NANDO_2200248 MONDO:0005068 http://www.w3.org/2004/02/skos/core#exactMatch "" myocardial infarction https://monarchinitiative.org/MONDO:0005068 NANDO:2200294 http://nanbyodata.jp/ontology/NANDO_2200294 MONDO:0005160 http://www.w3.org/2004/02/skos/core#exactMatch "" aortic aneurysm https://monarchinitiative.org/MONDO:0005160 NANDO:2200218 http://nanbyodata.jp/ontology/NANDO_2200218 MONDO:0005310 http://www.w3.org/2004/02/skos/core#closeMatch "" atrial flutter https://monarchinitiative.org/MONDO:0005310 NANDO:2200225 http://nanbyodata.jp/ontology/NANDO_2200225 MONDO:0005310 http://www.w3.org/2004/02/skos/core#exactMatch "" atrial flutter https://monarchinitiative.org/MONDO:0005310 NANDO:2200218 http://nanbyodata.jp/ontology/NANDO_2200218 MONDO:0005479 http://www.w3.org/2004/02/skos/core#closeMatch "" atrial tachycardia https://monarchinitiative.org/MONDO:0005479 NANDO:2200300 http://nanbyodata.jp/ontology/NANDO_2200300 MONDO:0005997 http://www.w3.org/2004/02/skos/core#exactMatch "" tricuspid valve stenosis https://monarchinitiative.org/MONDO:0005997 NANDO:2200239 http://nanbyodata.jp/ontology/NANDO_2200239 MONDO:0006711 http://www.w3.org/2004/02/skos/core#exactMatch "" constrictive pericarditis https://monarchinitiative.org/MONDO:0006711 NANDO:2200246 http://nanbyodata.jp/ontology/NANDO_2200246 MONDO:0006715 http://www.w3.org/2004/02/skos/core#exactMatch "" coronary stenosis https://monarchinitiative.org/MONDO:0006715 NANDO:2200234 http://nanbyodata.jp/ontology/NANDO_2200234 MONDO:0006779 http://www.w3.org/2004/02/skos/core#exactMatch "" heart aneurysm https://monarchinitiative.org/MONDO:0006779 NANDO:2200276 http://nanbyodata.jp/ontology/NANDO_2200276 MONDO:0006935 http://www.w3.org/2004/02/skos/core#exactMatch "" pulmonary subvalvular stenosis https://monarchinitiative.org/MONDO:0006935 NANDO:2200277 http://nanbyodata.jp/ontology/NANDO_2200277 MONDO:0006987 http://www.w3.org/2004/02/skos/core#exactMatch "" subvalvular aortic stenosis https://monarchinitiative.org/MONDO:0006987 NANDO:2200264 http://nanbyodata.jp/ontology/NANDO_2200264 MONDO:0011827 http://www.w3.org/2004/02/skos/core#exactMatch "" patent ductus arteriosus https://monarchinitiative.org/MONDO:0011827 NANDO:2200266 http://nanbyodata.jp/ontology/NANDO_2200266 MONDO:0020439 http://www.w3.org/2004/02/skos/core#closeMatch "" patent foramen ovale https://monarchinitiative.org/MONDO:0020439 NANDO:2200236 http://nanbyodata.jp/ontology/NANDO_2200236 MONDO:0021209 http://www.w3.org/2004/02/skos/core#exactMatch "" heart neoplasm https://monarchinitiative.org/MONDO:0021209 NANDO:2200262 http://nanbyodata.jp/ontology/NANDO_2200262 MONDO:0021902 http://www.w3.org/2004/02/skos/core#exactMatch "" aortopulmonary window https://monarchinitiative.org/MONDO:0021902 NANDO:2200317 http://nanbyodata.jp/ontology/NANDO_2200317 MONDO:0000050 http://www.w3.org/2004/02/skos/core#exactMatch 先天性成長ホルモン単独欠損症 isolated congenital growth hormone deficiency https://monarchinitiative.org/MONDO:0000050 NANDO:2200335 http://nanbyodata.jp/ontology/NANDO_2200335 MONDO:0007699 http://www.w3.org/2004/02/skos/core#exactMatch 橋本甲状腺炎 Hashimoto thyroiditis https://monarchinitiative.org/MONDO:0007699 NANDO:2200363 http://nanbyodata.jp/ontology/NANDO_2200363 MONDO:0008323 http://www.w3.org/2004/02/skos/core#exactMatch リドル症候群 Liddle syndrome https://monarchinitiative.org/MONDO:0008323 NANDO:2200371 http://nanbyodata.jp/ontology/NANDO_2200371 MONDO:0008727 http://www.w3.org/2004/02/skos/core#exactMatch 3β-ヒドロキシステロイドデヒドロゲナーゼ欠損による先天性副腎過形成症 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008727 NANDO:2200374 http://nanbyodata.jp/ontology/NANDO_2200374 MONDO:0008728 http://www.w3.org/2004/02/skos/core#exactMatch 21水酸化酵素欠損による古典型先天性副腎過形成症 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency https://monarchinitiative.org/MONDO:0008728 NANDO:2200372 http://nanbyodata.jp/ontology/NANDO_2200372 MONDO:0008729 http://www.w3.org/2004/02/skos/core#exactMatch 11β-水酸化酵素欠損による先天性副腎過形成症 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency https://monarchinitiative.org/MONDO:0008729 NANDO:2200373 http://nanbyodata.jp/ontology/NANDO_2200373 MONDO:0008730 http://www.w3.org/2004/02/skos/core#exactMatch 17α-水酸化酵素欠損による先天性副腎過形成症 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency https://monarchinitiative.org/MONDO:0008730 NANDO:2200362 http://nanbyodata.jp/ontology/NANDO_2200362 MONDO:0009025 http://www.w3.org/2004/02/skos/core#exactMatch 見かけの鉱質コルチコイド過剰症 apparent mineralocorticoid excess https://monarchinitiative.org/MONDO:0009025 NANDO:2200353 http://nanbyodata.jp/ontology/NANDO_2200353 MONDO:0009049 http://www.w3.org/2004/02/skos/core#exactMatch 大結節性副腎皮質過形成によるクッシング症候群 Cushing syndrome due to macronodular adrenal hyperplasia https://monarchinitiative.org/MONDO:0009049 NANDO:2200350 http://nanbyodata.jp/ontology/NANDO_2200350 MONDO:0009050 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体腺腫によるクッシング病 Cushing disease due to pituitary adenoma https://monarchinitiative.org/MONDO:0009050 NANDO:2200384 http://nanbyodata.jp/ontology/NANDO_2200384 MONDO:0009299 http://www.w3.org/2004/02/skos/core#exactMatch 46XX性腺異形成症 46 XX gonadal dysgenesis https://monarchinitiative.org/MONDO:0009299 NANDO:2200346 http://nanbyodata.jp/ontology/NANDO_2200346 MONDO:0009411 http://www.w3.org/2004/02/skos/core#closeMatch 自己免疫性多内分泌腺症候群1型 autoimmune polyendocrine syndrome type 1 https://monarchinitiative.org/MONDO:0009411 NANDO:2200347 http://nanbyodata.jp/ontology/NANDO_2200347 MONDO:0010012 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性多発性内分泌症2型 autoimmune polyendocrinopathy type 2 https://monarchinitiative.org/MONDO:0010012 NANDO:2200320 http://nanbyodata.jp/ontology/NANDO_2200320 MONDO:0010038 http://www.w3.org/2004/02/skos/core#exactMatch インスリン様成長因子I抵抗性による成長遅延 growth delay due to insulin-like growth factor I resistance https://monarchinitiative.org/MONDO:0010038 NANDO:2200341 http://nanbyodata.jp/ontology/NANDO_2200341 MONDO:0010131 http://www.w3.org/2004/02/skos/core#closeMatch 甲状腺ホルモン不応症, 全身型, 常染色体潜性 thyroid hormone resistance, generalized, autosomal recessive https://monarchinitiative.org/MONDO:0010131 NANDO:2200357 http://nanbyodata.jp/ontology/NANDO_2200357 MONDO:0010264 http://www.w3.org/2004/02/skos/core#closeMatch X連鎖性先天性副腎低形成症 X-linked adrenal hypoplasia congenita https://monarchinitiative.org/MONDO:0010264 NANDO:2200348 http://nanbyodata.jp/ontology/NANDO_2200348 MONDO:0012912 http://www.w3.org/2004/02/skos/core#exactMatch 偽性偽性副甲状腺機能低下症 pseudopseudohypoparathyroidism https://monarchinitiative.org/MONDO:0012912 NANDO:2200375 http://nanbyodata.jp/ontology/NANDO_2200375 MONDO:0013310 http://www.w3.org/2004/02/skos/core#exactMatch P450酸化還元酵素欠損症 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency https://monarchinitiative.org/MONDO:0013310 NANDO:2200358 http://nanbyodata.jp/ontology/NANDO_2200358 MONDO:0014421 http://www.w3.org/2004/02/skos/core#exactMatch グルココルチコイド抵抗症 glucocorticoid resistance https://monarchinitiative.org/MONDO:0014421 NANDO:2200359 http://nanbyodata.jp/ontology/NANDO_2200359 MONDO:0015129 http://www.w3.org/2004/02/skos/core#closeMatch アジソン病 chronic primary adrenal insufficiency https://monarchinitiative.org/MONDO:0015129 NANDO:2200360 http://nanbyodata.jp/ontology/NANDO_2200360 MONDO:0015129 http://www.w3.org/2004/02/skos/core#exactMatch アジソン病 chronic primary adrenal insufficiency https://monarchinitiative.org/MONDO:0015129 NANDO:2200324 http://nanbyodata.jp/ontology/NANDO_2200324 MONDO:0015790 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性尿崩症 central diabetes insipidus https://monarchinitiative.org/MONDO:0015790 NANDO:2200378 http://nanbyodata.jp/ontology/NANDO_2200378 MONDO:0015791 http://www.w3.org/2004/02/skos/core#exactMatch ゴナドトロピン非依存性思春期早発症 peripheral precocious puberty https://monarchinitiative.org/MONDO:0015791 NANDO:2200321 http://nanbyodata.jp/ontology/NANDO_2200321 MONDO:0015892 http://www.w3.org/2004/02/skos/core#exactMatch 成長ホルモン不応性症候群 growth hormone insensitivity syndrome https://monarchinitiative.org/MONDO:0015892 NANDO:2200355 http://nanbyodata.jp/ontology/NANDO_2200355 MONDO:0016042 http://www.w3.org/2004/02/skos/core#exactMatch 遅発性孤立性ACTH欠損症 late-onset isolated ACTH deficiency https://monarchinitiative.org/MONDO:0016042 NANDO:2200387 http://nanbyodata.jp/ontology/NANDO_2200387 MONDO:0016281 http://www.w3.org/2004/02/skos/core#exactMatch 卵精巣性性分化疾患 46,XX ovotesticular disorder of sex development https://monarchinitiative.org/MONDO:0016281 NANDO:2200326 http://nanbyodata.jp/ontology/NANDO_2200326 MONDO:0016383 http://www.w3.org/2004/02/skos/core#exactMatch 先天性腎性尿崩症 nephrogenic diabetes insipidus https://monarchinitiative.org/MONDO:0016383 NANDO:2200340 http://nanbyodata.jp/ontology/NANDO_2200340 MONDO:0016410 http://www.w3.org/2004/02/skos/core#closeMatch 甲状腺刺激ホルモン分泌低下症 central congenital hypothyroidism https://monarchinitiative.org/MONDO:0016410 NANDO:2200332 http://nanbyodata.jp/ontology/NANDO_2200332 MONDO:0016410 http://www.w3.org/2004/02/skos/core#exactMatch 甲状腺刺激ホルモン分泌低下症 central congenital hypothyroidism https://monarchinitiative.org/MONDO:0016410 NANDO:2200370 http://nanbyodata.jp/ontology/NANDO_2200370 MONDO:0018479 http://www.w3.org/2004/02/skos/core#exactMatch 先天性副腎皮質酵素欠損症 congenital adrenal hyperplasia https://monarchinitiative.org/MONDO:0018479 NANDO:2200382 http://nanbyodata.jp/ontology/NANDO_2200382 MONDO:0018555 http://www.w3.org/2004/02/skos/core#exactMatch 低ゴナドトロピン性性腺機能低下症 hypogonadotropic hypogonadism https://monarchinitiative.org/MONDO:0018555 NANDO:2200333 http://nanbyodata.jp/ontology/NANDO_2200333 MONDO:0018612 http://www.w3.org/2004/02/skos/core#exactMatch 先天性甲状腺機能低下症 congenital hypothyroidism https://monarchinitiative.org/MONDO:0018612 NANDO:2200325 http://nanbyodata.jp/ontology/NANDO_2200325 MONDO:0018620 http://www.w3.org/2004/02/skos/core#exactMatch 口渇中枢障害を伴う高ナトリウム血症 hypothalamic adipsic hypernatraemia syndrome https://monarchinitiative.org/MONDO:0018620 NANDO:2200367 http://nanbyodata.jp/ontology/NANDO_2200367 MONDO:0018638 http://www.w3.org/2004/02/skos/core#exactMatch 偽性低アルドステロン症 pseudohypoaldosteronism https://monarchinitiative.org/MONDO:0018638 NANDO:2200312 http://nanbyodata.jp/ontology/NANDO_2200312 MONDO:0018762 http://www.w3.org/2004/02/skos/core#exactMatch 非後天性複合下垂体ホルモン欠損症 non-acquired combined pituitary hormone deficiency https://monarchinitiative.org/MONDO:0018762 NANDO:2200381 http://nanbyodata.jp/ontology/NANDO_2200381 MONDO:0018800 http://www.w3.org/2004/02/skos/core#exactMatch カルマン症候群 Kallmann syndrome https://monarchinitiative.org/MONDO:0018800 NANDO:2200368 http://nanbyodata.jp/ontology/NANDO_2200368 MONDO:0019161 http://www.w3.org/2004/02/skos/core#exactMatch 偽性低アルドステロン症1型 pseudohypoaldosteronism type 1 https://monarchinitiative.org/MONDO:0019161 NANDO:2200369 http://nanbyodata.jp/ontology/NANDO_2200369 MONDO:0019162 http://www.w3.org/2004/02/skos/core#exactMatch 偽性低アルドステロン症2型 pseudohypoaldosteronism type 2 https://monarchinitiative.org/MONDO:0019162 NANDO:2200377 http://nanbyodata.jp/ontology/NANDO_2200377 MONDO:0019165 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性思春期早発症 central precocious puberty https://monarchinitiative.org/MONDO:0019165 NANDO:2200313 http://nanbyodata.jp/ontology/NANDO_2200313 MONDO:0019832 http://www.w3.org/2004/02/skos/core#exactMatch 後天性下垂体ホルモン欠損症 acquired pituitary hormone deficiency https://monarchinitiative.org/MONDO:0019832 NANDO:2200330 http://nanbyodata.jp/ontology/NANDO_2200330 MONDO:0019854 http://www.w3.org/2004/02/skos/core#exactMatch 異所性甲状腺 thyroid ectopia https://monarchinitiative.org/MONDO:0019854 NANDO:2200331 http://nanbyodata.jp/ontology/NANDO_2200331 MONDO:0019855 http://www.w3.org/2004/02/skos/core#exactMatch 無甲状腺症 athyreosis https://monarchinitiative.org/MONDO:0019855 NANDO:2200315 http://nanbyodata.jp/ontology/NANDO_2200315 MONDO:0019933 http://www.w3.org/2004/02/skos/core#exactMatch 先端巨大症 acromegaly https://monarchinitiative.org/MONDO:0019933 NANDO:2200349 http://nanbyodata.jp/ontology/NANDO_2200349 MONDO:0019992 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症 pseudohypoparathyroidism https://monarchinitiative.org/MONDO:0019992 NANDO:2200308 http://nanbyodata.jp/ontology/NANDO_2200308 MONDO:0020400 http://www.w3.org/2004/02/skos/core#exactMatch 僧帽弁弁上輪 congenital supravalvular mitral ring https://monarchinitiative.org/MONDO:0020400 NANDO:2200314 http://nanbyodata.jp/ontology/NANDO_2200314 MONDO:0020479 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体性巨人症 pituitary gigantism https://monarchinitiative.org/MONDO:0020479 NANDO:2200345 http://nanbyodata.jp/ontology/NANDO_2200345 MONDO:0001220 http://www.w3.org/2004/02/skos/core#exactMatch "" hypoparathyroidism https://monarchinitiative.org/MONDO:0001220 NANDO:2200303 http://nanbyodata.jp/ontology/NANDO_2200303 MONDO:0001298 http://www.w3.org/2004/02/skos/core#exactMatch "" congenital mitral valve insufficiency https://monarchinitiative.org/MONDO:0001298 NANDO:2200341 http://nanbyodata.jp/ontology/NANDO_2200341 MONDO:0001328 http://www.w3.org/2004/02/skos/core#exactMatch "" thyroid hormone resistance syndrome https://monarchinitiative.org/MONDO:0001328 NANDO:2200361 http://nanbyodata.jp/ontology/NANDO_2200361 MONDO:0001422 http://www.w3.org/2004/02/skos/core#exactMatch "" primary aldosteronism https://monarchinitiative.org/MONDO:0001422 NANDO:2200343 http://nanbyodata.jp/ontology/NANDO_2200343 MONDO:0001741 http://www.w3.org/2004/02/skos/core#exactMatch "" hyperparathyroidism https://monarchinitiative.org/MONDO:0001741 NANDO:2200305 http://nanbyodata.jp/ontology/NANDO_2200305 MONDO:0001927 http://www.w3.org/2004/02/skos/core#exactMatch "" pulmonary valve insufficiency https://monarchinitiative.org/MONDO:0001927 NANDO:2200352 http://nanbyodata.jp/ontology/NANDO_2200352 MONDO:0003924 http://www.w3.org/2004/02/skos/core#exactMatch "" adrenal cortex adenoma https://monarchinitiative.org/MONDO:0003924 NANDO:2200329 http://nanbyodata.jp/ontology/NANDO_2200329 MONDO:0004425 http://www.w3.org/2004/02/skos/core#exactMatch "" hyperthyroidism https://monarchinitiative.org/MONDO:0004425 NANDO:2200328 http://nanbyodata.jp/ontology/NANDO_2200328 MONDO:0005364 http://www.w3.org/2004/02/skos/core#exactMatch "" Graves disease https://monarchinitiative.org/MONDO:0005364 NANDO:2200383 http://nanbyodata.jp/ontology/NANDO_2200383 MONDO:0005437 http://www.w3.org/2004/02/skos/core#exactMatch "" testicular dysgenesis syndrome https://monarchinitiative.org/MONDO:0005437 NANDO:2200336 http://nanbyodata.jp/ontology/NANDO_2200336 MONDO:0005624 http://www.w3.org/2004/02/skos/core#exactMatch "" atrophic thyroiditis https://monarchinitiative.org/MONDO:0005624 NANDO:2200307 http://nanbyodata.jp/ontology/NANDO_2200307 MONDO:0005648 http://www.w3.org/2004/02/skos/core#exactMatch "" aortic valve insufficiency https://monarchinitiative.org/MONDO:0005648 NANDO:2200322 http://nanbyodata.jp/ontology/NANDO_2200322 MONDO:0005804 http://www.w3.org/2004/02/skos/core#exactMatch "" hyperprolactinemia https://monarchinitiative.org/MONDO:0005804 NANDO:2200302 http://nanbyodata.jp/ontology/NANDO_2200302 MONDO:0005852 http://www.w3.org/2004/02/skos/core#exactMatch "" mitral valve stenosis https://monarchinitiative.org/MONDO:0005852 NANDO:2200323 http://nanbyodata.jp/ontology/NANDO_2200323 MONDO:0006802 http://www.w3.org/2004/02/skos/core#exactMatch "" inappropriate ADH syndrome https://monarchinitiative.org/MONDO:0006802 NANDO:2200386 http://nanbyodata.jp/ontology/NANDO_2200386 MONDO:0006823 http://www.w3.org/2004/02/skos/core#exactMatch "" Klinefelter syndrome https://monarchinitiative.org/MONDO:0006823 NANDO:2200304 http://nanbyodata.jp/ontology/NANDO_2200304 MONDO:0006936 http://www.w3.org/2004/02/skos/core#exactMatch "" pulmonary valve stenosis https://monarchinitiative.org/MONDO:0006936 NANDO:2200306 http://nanbyodata.jp/ontology/NANDO_2200306 MONDO:0042981 http://www.w3.org/2004/02/skos/core#exactMatch "" aortic valve stenosis https://monarchinitiative.org/MONDO:0042981 NANDO:2200351 http://nanbyodata.jp/ontology/NANDO_2200351 MONDO:0043472 http://www.w3.org/2004/02/skos/core#exactMatch "" ectopic ACTH secretion syndrome https://monarchinitiative.org/MONDO:0043472 NANDO:2200429 http://nanbyodata.jp/ontology/NANDO_2200429 MONDO:0005100 http://www.w3.org/2004/02/skos/core#exactMatch 全身性硬化症 systemic sclerosis https://monarchinitiative.org/MONDO:0005100 NANDO:2200399 http://nanbyodata.jp/ontology/NANDO_2200399 MONDO:0005803 http://www.w3.org/2004/02/skos/core#exactMatch 高インスリン血症性低血糖症 hyperinsulinemic hypoglycemia https://monarchinitiative.org/MONDO:0005803 NANDO:2200430 http://nanbyodata.jp/ontology/NANDO_2200430 MONDO:0005854 http://www.w3.org/2004/02/skos/core#exactMatch 混合性結合組織病 mixed connective tissue disease https://monarchinitiative.org/MONDO:0005854 NANDO:2200422 http://nanbyodata.jp/ontology/NANDO_2200422 MONDO:0007191 http://www.w3.org/2004/02/skos/core#exactMatch ベーチェット病 Behcet disease https://monarchinitiative.org/MONDO:0007191 NANDO:2200444 http://nanbyodata.jp/ontology/NANDO_2200444 MONDO:0007315 http://www.w3.org/2004/02/skos/core#exactMatch ケルビム症 cherubism https://monarchinitiative.org/MONDO:0007315 NANDO:2200461 http://nanbyodata.jp/ontology/NANDO_2200461 MONDO:0007452 http://www.w3.org/2004/02/skos/core#closeMatch 若年発症成人型糖尿病1型 maturity-onset diabetes of the young type 1 https://monarchinitiative.org/MONDO:0007452 NANDO:2200405 http://nanbyodata.jp/ontology/NANDO_2200405 MONDO:0007540 http://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍1型 multiple endocrine neoplasia type 1 https://monarchinitiative.org/MONDO:0007540 NANDO:2200433 http://nanbyodata.jp/ontology/NANDO_2200433 MONDO:0007727 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体顕性家族性周期熱 autosomal dominant familial periodic fever https://monarchinitiative.org/MONDO:0007727 NANDO:2200416 http://nanbyodata.jp/ontology/NANDO_2200416 MONDO:0007915 http://www.w3.org/2004/02/skos/core#exactMatch 全身性エリテマトーデス systemic lupus erythematosus https://monarchinitiative.org/MONDO:0007915 NANDO:2200418 http://nanbyodata.jp/ontology/NANDO_2200418 MONDO:0008054 http://www.w3.org/2004/02/skos/core#exactMatch 若年性皮膚筋炎 juvenile dermatomyositis https://monarchinitiative.org/MONDO:0008054 NANDO:2200406 http://nanbyodata.jp/ontology/NANDO_2200406 MONDO:0008234 http://www.w3.org/2004/02/skos/core#closeMatch 多発性内分泌腫瘍2A型 multiple endocrine neoplasia type 2A https://monarchinitiative.org/MONDO:0008234 NANDO:2200411 http://nanbyodata.jp/ontology/NANDO_2200411 MONDO:0008300 http://www.w3.org/2004/02/skos/core#exactMatch プラダー・ウィリ症候群 Prader-Willi syndrome https://monarchinitiative.org/MONDO:0008300 NANDO:2200409 http://nanbyodata.jp/ontology/NANDO_2200409 MONDO:0008487 http://www.w3.org/2004/02/skos/core#exactMatch 多嚢胞性卵巣症候群 polycystic ovary syndrome https://monarchinitiative.org/MONDO:0008487 NANDO:2200434 http://nanbyodata.jp/ontology/NANDO_2200434 MONDO:0008523 http://www.w3.org/2004/02/skos/core#exactMatch ブラウ症候群 Blau syndrome https://monarchinitiative.org/MONDO:0008523 NANDO:2200435 http://nanbyodata.jp/ontology/NANDO_2200435 MONDO:0009726 http://www.w3.org/2004/02/skos/core#exactMatch プロテアソーム関連自己炎症症候群 proteosome-associated autoinflammatory syndrome https://monarchinitiative.org/MONDO:0009726 NANDO:2200438 http://nanbyodata.jp/ontology/NANDO_2200438 MONDO:0009813 http://www.w3.org/2004/02/skos/core#exactMatch 慢性再発性多発性骨髄炎 chronic recurrent multifocal osteomyelitis https://monarchinitiative.org/MONDO:0009813 NANDO:2200436 http://nanbyodata.jp/ontology/NANDO_2200436 MONDO:0009849 http://www.w3.org/2004/02/skos/core#closeMatch 周期熱を伴う高ガンマグロブリン血症D hyperimmunoglobulinemia D with periodic fever https://monarchinitiative.org/MONDO:0009849 NANDO:2200390 http://nanbyodata.jp/ontology/NANDO_2200390 MONDO:0009916 http://www.w3.org/2004/02/skos/core#exactMatch 17β-ヒドロキシステロイドデヒドロゲナーゼ3欠損による46,XX性的発達障害 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency https://monarchinitiative.org/MONDO:0009916 NANDO:2200389 http://nanbyodata.jp/ontology/NANDO_2200389 MONDO:0009923 http://www.w3.org/2004/02/skos/core#exactMatch 5α-還元酵素2欠損による46,XY性的発達障害 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency https://monarchinitiative.org/MONDO:0009923 NANDO:2200420 http://nanbyodata.jp/ontology/NANDO_2200420 MONDO:0010030 http://www.w3.org/2004/02/skos/core#exactMatch シェーグレン症候群 Sjogren syndrome https://monarchinitiative.org/MONDO:0010030 NANDO:2200443 http://nanbyodata.jp/ontology/NANDO_2200443 MONDO:0011269 http://www.w3.org/2004/02/skos/core#exactMatch 乾癬2 psoriasis 2 https://monarchinitiative.org/MONDO:0011269 NANDO:2200457 http://nanbyodata.jp/ontology/NANDO_2200457 MONDO:0011273 http://www.w3.org/2004/02/skos/core#exactMatch H症候群 H syndrome https://monarchinitiative.org/MONDO:0011273 NANDO:2200415 http://nanbyodata.jp/ontology/NANDO_2200415 MONDO:0011429 http://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎 juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0011429 NANDO:2200437 http://nanbyodata.jp/ontology/NANDO_2200437 MONDO:0011462 http://www.w3.org/2004/02/skos/core#exactMatch 化膿性関節炎-壊疽性膿皮症-ざ瘡症候群 pyogenic arthritis-pyoderma gangrenosum-acne syndrome https://monarchinitiative.org/MONDO:0011462 NANDO:2200424 http://nanbyodata.jp/ontology/NANDO_2200424 MONDO:0012105 http://www.w3.org/2004/02/skos/core#exactMatch 多発血管炎性肉芽腫症 granulomatosis with polyangiitis https://monarchinitiative.org/MONDO:0012105 NANDO:2200453 http://nanbyodata.jp/ontology/NANDO_2200453 MONDO:0012316 http://www.w3.org/2004/02/skos/core#exactMatch Majeed症候群 Majeed syndrome https://monarchinitiative.org/MONDO:0012316 NANDO:2200449 http://nanbyodata.jp/ontology/NANDO_2200449 MONDO:0012724 http://www.w3.org/2004/02/skos/core#exactMatch NLRP-12関連周期性症候群 familial cold autoinflammatory syndrome 2 https://monarchinitiative.org/MONDO:0012724 NANDO:2200448 http://nanbyodata.jp/ontology/NANDO_2200448 MONDO:0012941 http://www.w3.org/2004/02/skos/core#exactMatch 炎症性腸疾患25 inflammatory bowel disease 25 https://monarchinitiative.org/MONDO:0012941 NANDO:2200439 http://nanbyodata.jp/ontology/NANDO_2200439 MONDO:0013021 http://www.w3.org/2004/02/skos/core#exactMatch インターロイキンI受容体拮抗分子欠損症 sterile multifocal osteomyelitis with periostitis and pustulosis https://monarchinitiative.org/MONDO:0013021 NANDO:2200447 http://nanbyodata.jp/ontology/NANDO_2200447 MONDO:0013153 http://www.w3.org/2004/02/skos/core#exactMatch 炎症性腸疾患28 inflammatory bowel disease 28 https://monarchinitiative.org/MONDO:0013153 NANDO:2200452 http://nanbyodata.jp/ontology/NANDO_2200452 MONDO:0013626 http://www.w3.org/2004/02/skos/core#exactMatch 乾癬14, 膿疱性 psoriasis 14, pustular https://monarchinitiative.org/MONDO:0013626 NANDO:2200455 http://nanbyodata.jp/ontology/NANDO_2200455 MONDO:0013766 http://www.w3.org/2004/02/skos/core#exactMatch フォスフォリパーゼCγ2関連抗体欠損免疫異常症 familial cold autoinflammatory syndrome 3 https://monarchinitiative.org/MONDO:0013766 NANDO:2200451 http://nanbyodata.jp/ontology/NANDO_2200451 MONDO:0013944 http://www.w3.org/2004/02/skos/core#closeMatch 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-PLCG2-associated antibody deficiency-immune dysregulation https://monarchinitiative.org/MONDO:0013944 NANDO:2200442 http://nanbyodata.jp/ontology/NANDO_2200442 MONDO:0013944 http://www.w3.org/2004/02/skos/core#exactMatch 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-PLCG2-associated antibody deficiency-immune dysregulation https://monarchinitiative.org/MONDO:0013944 NANDO:2200450 http://nanbyodata.jp/ontology/NANDO_2200450 MONDO:0014306 http://www.w3.org/2004/02/skos/core#closeMatch ADA2欠損による血管炎 vasculitis due to ADA2 deficiency https://monarchinitiative.org/MONDO:0014306 NANDO:2200441 http://nanbyodata.jp/ontology/NANDO_2200441 MONDO:0014306 http://www.w3.org/2004/02/skos/core#exactMatch ADA2欠損による血管炎 vasculitis due to ADA2 deficiency https://monarchinitiative.org/MONDO:0014306 NANDO:2200414 http://nanbyodata.jp/ontology/NANDO_2200414 MONDO:0015229 http://www.w3.org/2004/02/skos/core#exactMatch バルデー・ビードル症候群 Bardet-Biedl syndrome https://monarchinitiative.org/MONDO:0015229 NANDO:2200388 http://nanbyodata.jp/ontology/NANDO_2200388 MONDO:0015779 http://www.w3.org/2004/02/skos/core#closeMatch 45,X/46,XY混合性性腺異形成症 45,X/46,XY mixed gonadal dysgenesis https://monarchinitiative.org/MONDO:0015779 NANDO:2200427 http://nanbyodata.jp/ontology/NANDO_2200427 MONDO:0015943 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性多発血管炎性肉芽腫症 eosinophilic granulomatosis with polyangiitis https://monarchinitiative.org/MONDO:0015943 NANDO:2200432 http://nanbyodata.jp/ontology/NANDO_2200432 MONDO:0016168 http://www.w3.org/2004/02/skos/core#exactMatch クリオピリン関連周期熱症候群 cryopyrin-associated periodic syndrome https://monarchinitiative.org/MONDO:0016168 NANDO:2200446 http://nanbyodata.jp/ontology/NANDO_2200446 MONDO:0016542 http://www.w3.org/2004/02/skos/core#exactMatch IL10欠損症 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome https://monarchinitiative.org/MONDO:0016542 NANDO:2200399 http://nanbyodata.jp/ontology/NANDO_2200399 MONDO:0017182 http://www.w3.org/2004/02/skos/core#closeMatch 家族性高インスリン血症 familial hyperinsulinism https://monarchinitiative.org/MONDO:0017182 NANDO:2200436 http://nanbyodata.jp/ontology/NANDO_2200436 MONDO:0017708 http://www.w3.org/2004/02/skos/core#exactMatch 高IgD症候群 mevalonate kinase deficiency https://monarchinitiative.org/MONDO:0017708 NANDO:2200423 http://nanbyodata.jp/ontology/NANDO_2200423 MONDO:0017991 http://www.w3.org/2004/02/skos/core#exactMatch 高安動脈炎 Takayasu arteritis https://monarchinitiative.org/MONDO:0017991 NANDO:2200431 http://nanbyodata.jp/ontology/NANDO_2200431 MONDO:0018088 http://www.w3.org/2004/02/skos/core#exactMatch 家族性地中海熱 familial Mediterranean fever https://monarchinitiative.org/MONDO:0018088 NANDO:2200449 http://nanbyodata.jp/ontology/NANDO_2200449 MONDO:0018768 http://www.w3.org/2004/02/skos/core#closeMatch 家族性寒冷蕁麻疹 familial cold autoinflammatory syndrome https://monarchinitiative.org/MONDO:0018768 NANDO:2200465 http://nanbyodata.jp/ontology/NANDO_2200465 MONDO:0018883 http://www.w3.org/2004/02/skos/core#closeMatch 先天性全身性脂肪萎縮症 Berardinelli-Seip congenital lipodystrophy https://monarchinitiative.org/MONDO:0018883 NANDO:2200412 http://nanbyodata.jp/ontology/NANDO_2200412 MONDO:0018919 http://www.w3.org/2004/02/skos/core#exactMatch マッキューン・オルブライト症候群 McCune-Albright syndrome https://monarchinitiative.org/MONDO:0018919 NANDO:2200413 http://nanbyodata.jp/ontology/NANDO_2200413 MONDO:0018997 http://www.w3.org/2004/02/skos/core#exactMatch ヌーナン症候群 Noonan syndrome https://monarchinitiative.org/MONDO:0018997 NANDO:2200406 http://nanbyodata.jp/ontology/NANDO_2200406 MONDO:0019003 http://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍2型 multiple endocrine neoplasia type 2 https://monarchinitiative.org/MONDO:0019003 NANDO:2200426 http://nanbyodata.jp/ontology/NANDO_2200426 MONDO:0019124 http://www.w3.org/2004/02/skos/core#exactMatch 顕微鏡的多発血管炎 microscopic polyangiitis https://monarchinitiative.org/MONDO:0019124 NANDO:2200428 http://nanbyodata.jp/ontology/NANDO_2200428 MONDO:0019125 http://www.w3.org/2004/02/skos/core#exactMatch 再発性多発軟骨炎 relapsing polychondritis https://monarchinitiative.org/MONDO:0019125 NANDO:2200391 http://nanbyodata.jp/ontology/NANDO_2200391 MONDO:0019154 http://www.w3.org/2004/02/skos/core#exactMatch アンドロゲン不応症 androgen insensitivity syndrome https://monarchinitiative.org/MONDO:0019154 NANDO:2200425 http://nanbyodata.jp/ontology/NANDO_2200425 MONDO:0019170 http://www.w3.org/2004/02/skos/core#exactMatch 結節性多発動脈炎 polyarteritis nodosa https://monarchinitiative.org/MONDO:0019170 NANDO:2200410 http://nanbyodata.jp/ontology/NANDO_2200410 MONDO:0019499 http://www.w3.org/2004/02/skos/core#exactMatch ターナー症候群 Turner syndrome https://monarchinitiative.org/MONDO:0019499 NANDO:2200419 http://nanbyodata.jp/ontology/NANDO_2200419 MONDO:0019734 http://www.w3.org/2004/02/skos/core#exactMatch 若年性多発性筋炎 juvenile polymyositis https://monarchinitiative.org/MONDO:0019734 NANDO:2200397 http://nanbyodata.jp/ontology/NANDO_2200397 MONDO:0019959 http://www.w3.org/2004/02/skos/core#exactMatch グルカゴノーマ glucagonoma https://monarchinitiative.org/MONDO:0019959 NANDO:2200394 http://nanbyodata.jp/ontology/NANDO_2200394 MONDO:0019960 http://www.w3.org/2004/02/skos/core#exactMatch VIP産生腫瘍 VIPoma https://monarchinitiative.org/MONDO:0019960 NANDO:2200393 http://nanbyodata.jp/ontology/NANDO_2200393 MONDO:0020040 http://www.w3.org/2004/02/skos/core#exactMatch 46,XX性分化疾患 46,XY disorder of sex development https://monarchinitiative.org/MONDO:0020040 NANDO:2200388 http://nanbyodata.jp/ontology/NANDO_2200388 MONDO:0001969 http://www.w3.org/2004/02/skos/core#exactMatch "" mixed gonadal dysgenesis https://monarchinitiative.org/MONDO:0001969 NANDO:2200395 http://nanbyodata.jp/ontology/NANDO_2200395 MONDO:0003523 http://www.w3.org/2004/02/skos/core#exactMatch "" gastrin-producing neuroendocrine tumor https://monarchinitiative.org/MONDO:0003523 NANDO:2200396 http://nanbyodata.jp/ontology/NANDO_2200396 MONDO:0005369 http://www.w3.org/2004/02/skos/core#closeMatch "" carcinoid tumor https://monarchinitiative.org/MONDO:0005369 NANDO:2200404 http://nanbyodata.jp/ontology/NANDO_2200404 MONDO:0006573 http://www.w3.org/2004/02/skos/core#exactMatch "" lipodystrophy https://monarchinitiative.org/MONDO:0006573 NANDO:2200423 http://nanbyodata.jp/ontology/NANDO_2200423 MONDO:0006656 http://www.w3.org/2004/02/skos/core#closeMatch "" aortitis https://monarchinitiative.org/MONDO:0006656 NANDO:2200401 http://nanbyodata.jp/ontology/NANDO_2200401 MONDO:0024299 http://www.w3.org/2004/02/skos/core#exactMatch "" vitamin D-dependent rickets https://monarchinitiative.org/MONDO:0024299 NANDO:2200402 http://nanbyodata.jp/ontology/NANDO_2200402 MONDO:0024300 http://www.w3.org/2004/02/skos/core#closeMatch "" hypophosphatemic rickets https://monarchinitiative.org/MONDO:0024300 NANDO:2200403 http://nanbyodata.jp/ontology/NANDO_2200403 MONDO:0024300 http://www.w3.org/2004/02/skos/core#closeMatch "" hypophosphatemic rickets https://monarchinitiative.org/MONDO:0024300 NANDO:2200398 http://nanbyodata.jp/ontology/NANDO_2200398 MONDO:0024677 http://www.w3.org/2004/02/skos/core#exactMatch "" pancreatic insulinoma https://monarchinitiative.org/MONDO:0024677 NANDO:2200458 http://nanbyodata.jp/ontology/NANDO_2200458 MONDO:0100222 http://www.w3.org/2004/02/skos/core#exactMatch "" A20 haploinsufficiency https://monarchinitiative.org/MONDO:0100222 NANDO:2200460 http://nanbyodata.jp/ontology/NANDO_2200460 MONDO:0005147 http://www.w3.org/2004/02/skos/core#exactMatch 1型糖尿病 type 1 diabetes mellitus https://monarchinitiative.org/MONDO:0005147 NANDO:2200461 http://nanbyodata.jp/ontology/NANDO_2200461 MONDO:0005148 http://www.w3.org/2004/02/skos/core#exactMatch 2型糖尿病 type 2 diabetes mellitus https://monarchinitiative.org/MONDO:0005148 NANDO:2200467 http://nanbyodata.jp/ontology/NANDO_2200467 MONDO:0009861 http://www.w3.org/2004/02/skos/core#exactMatch フェニルケトン尿症 phenylketonuria https://monarchinitiative.org/MONDO:0009861 NANDO:2200468 http://nanbyodata.jp/ontology/NANDO_2200468 MONDO:0010161 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症I型 tyrosinemia type I https://monarchinitiative.org/MONDO:0010161 NANDO:2200459 http://nanbyodata.jp/ontology/NANDO_2200459 MONDO:0014472 http://www.w3.org/2004/02/skos/core#exactMatch NLRC4異常症 periodic fever-infantile enterocolitis-autoinflammatory syndrome https://monarchinitiative.org/MONDO:0014472 NANDO:2200463 http://nanbyodata.jp/ontology/NANDO_2200463 MONDO:0016391 http://www.w3.org/2004/02/skos/core#exactMatch 新生児糖尿病 neonatal diabetes mellitus https://monarchinitiative.org/MONDO:0016391 NANDO:2200462 http://nanbyodata.jp/ontology/NANDO_2200462 MONDO:0018911 http://www.w3.org/2004/02/skos/core#exactMatch 若年発症成人型糖尿病 maturity-onset diabetes of the young https://monarchinitiative.org/MONDO:0018911 NANDO:2200465 http://nanbyodata.jp/ontology/NANDO_2200465 MONDO:0005827 http://www.w3.org/2004/02/skos/core#exactMatch "" lipoatrophic diabetes https://monarchinitiative.org/MONDO:0005827 NANDO:2200547 http://nanbyodata.jp/ontology/NANDO_2200547 MONDO:0001586 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症1型 mucopolysaccharidosis type 1 https://monarchinitiative.org/MONDO:0001586 NANDO:2200538 http://nanbyodata.jp/ontology/NANDO_2200538 MONDO:0002413 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病I型 glycogen storage disease I https://monarchinitiative.org/MONDO:0002413 NANDO:2200503 http://nanbyodata.jp/ontology/NANDO_2200503 MONDO:0002474 http://www.w3.org/2004/02/skos/core#exactMatch 原発性高シュウ酸尿症 primary hyperoxaluria https://monarchinitiative.org/MONDO:0002474 NANDO:2200472 http://nanbyodata.jp/ontology/NANDO_2200472 MONDO:0008221 http://www.w3.org/2004/02/skos/core#exactMatch プロリダーゼ欠損症 prolidase deficiency https://monarchinitiative.org/MONDO:0008221 NANDO:2200513 http://nanbyodata.jp/ontology/NANDO_2200513 MONDO:0008721 http://www.w3.org/2004/02/skos/core#exactMatch 中鎖アシルCoA脱水素酵素欠損症 medium chain acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008721 NANDO:2200514 http://nanbyodata.jp/ontology/NANDO_2200514 MONDO:0008722 http://www.w3.org/2004/02/skos/core#exactMatch 短鎖アシルCoA脱水素酵素欠損症 short chain acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008722 NANDO:2200512 http://nanbyodata.jp/ontology/NANDO_2200512 MONDO:0008723 http://www.w3.org/2004/02/skos/core#exactMatch 極長鎖アシルCoA脱水素酵素欠損症 very long chain acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008723 NANDO:2200504 http://nanbyodata.jp/ontology/NANDO_2200504 MONDO:0008753 http://www.w3.org/2004/02/skos/core#exactMatch アルカプトン尿症 alkaptonuria https://monarchinitiative.org/MONDO:0008753 NANDO:2200493 http://nanbyodata.jp/ontology/NANDO_2200493 MONDO:0008760 http://www.w3.org/2004/02/skos/core#exactMatch β-ケトチオラーゼ欠損症 beta-ketothiolase deficiency https://monarchinitiative.org/MONDO:0008760 NANDO:2200482 http://nanbyodata.jp/ontology/NANDO_2200482 MONDO:0008814 http://www.w3.org/2004/02/skos/core#exactMatch 高アルギニン血症 hyperargininemia https://monarchinitiative.org/MONDO:0008814 NANDO:2200481 http://nanbyodata.jp/ontology/NANDO_2200481 MONDO:0008815 http://www.w3.org/2004/02/skos/core#exactMatch アルギニノコハク酸尿症 argininosuccinic aciduria https://monarchinitiative.org/MONDO:0008815 NANDO:2200511 http://nanbyodata.jp/ontology/NANDO_2200511 MONDO:0008918 http://www.w3.org/2004/02/skos/core#exactMatch 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://monarchinitiative.org/MONDO:0008918 NANDO:2200508 http://nanbyodata.jp/ontology/NANDO_2200508 MONDO:0008919 http://www.w3.org/2004/02/skos/core#exactMatch 全身性原発性カルニチン欠乏症 systemic primary carnitine deficiency disease https://monarchinitiative.org/MONDO:0008919 NANDO:2200480 http://nanbyodata.jp/ontology/NANDO_2200480 MONDO:0008988 http://www.w3.org/2004/02/skos/core#exactMatch シトルリン血症I型 citrullinemia type I https://monarchinitiative.org/MONDO:0008988 NANDO:2200489 http://nanbyodata.jp/ontology/NANDO_2200489 MONDO:0009067 http://www.w3.org/2004/02/skos/core#exactMatch シスチン尿症 cystinuria https://monarchinitiative.org/MONDO:0009067 NANDO:2200488 http://nanbyodata.jp/ontology/NANDO_2200488 MONDO:0009109 http://www.w3.org/2004/02/skos/core#exactMatch リジン尿性蛋白不耐症 lysinuric protein intolerance https://monarchinitiative.org/MONDO:0009109 NANDO:2200531 http://nanbyodata.jp/ontology/NANDO_2200531 MONDO:0009249 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性フルクトース不耐症 hereditary fructose intolerance https://monarchinitiative.org/MONDO:0009249 NANDO:2200535 http://nanbyodata.jp/ontology/NANDO_2200535 MONDO:0009251 http://www.w3.org/2004/02/skos/core#exactMatch 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://monarchinitiative.org/MONDO:0009251 NANDO:2200533 http://nanbyodata.jp/ontology/NANDO_2200533 MONDO:0009255 http://www.w3.org/2004/02/skos/core#exactMatch ガラクトキナーゼ欠損症 galactokinase deficiency https://monarchinitiative.org/MONDO:0009255 NANDO:2200534 http://nanbyodata.jp/ontology/NANDO_2200534 MONDO:0009257 http://www.w3.org/2004/02/skos/core#exactMatch ガラクトースエピメラーゼ欠損症 galactose epimerase deficiency https://monarchinitiative.org/MONDO:0009257 NANDO:2200532 http://nanbyodata.jp/ontology/NANDO_2200532 MONDO:0009258 http://www.w3.org/2004/02/skos/core#exactMatch 古典型ガラクトース血症 classic galactosemia https://monarchinitiative.org/MONDO:0009258 NANDO:2200501 http://nanbyodata.jp/ontology/NANDO_2200501 MONDO:0009281 http://www.w3.org/2004/02/skos/core#exactMatch グルタリルCoA脱水素酵素欠損症 glutaryl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0009281 NANDO:2200502 http://nanbyodata.jp/ontology/NANDO_2200502 MONDO:0009282 http://www.w3.org/2004/02/skos/core#exactMatch マルチプルアシルCoA脱水素酵素欠損症 multiple acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0009282 NANDO:2200539 http://nanbyodata.jp/ontology/NANDO_2200539 MONDO:0009291 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病III glycogen storage disease III https://monarchinitiative.org/MONDO:0009291 NANDO:2200540 http://nanbyodata.jp/ontology/NANDO_2200540 MONDO:0009292 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損による糖原病 glycogen storage disease due to glycogen branching enzyme deficiency https://monarchinitiative.org/MONDO:0009292 NANDO:2200541 http://nanbyodata.jp/ontology/NANDO_2200541 MONDO:0009293 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病V glycogen storage disease V https://monarchinitiative.org/MONDO:0009293 NANDO:2200542 http://nanbyodata.jp/ontology/NANDO_2200542 MONDO:0009294 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VI glycogen storage disease VI https://monarchinitiative.org/MONDO:0009294 NANDO:2200543 http://nanbyodata.jp/ontology/NANDO_2200543 MONDO:0009295 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VII glycogen storage disease VII https://monarchinitiative.org/MONDO:0009295 NANDO:2200487 http://nanbyodata.jp/ontology/NANDO_2200487 MONDO:0009324 http://www.w3.org/2004/02/skos/core#exactMatch ハートナップ病 Hartnup disease https://monarchinitiative.org/MONDO:0009324 NANDO:2200478 http://nanbyodata.jp/ontology/NANDO_2200478 MONDO:0009376 http://www.w3.org/2004/02/skos/core#exactMatch カルバミルリン酸合成酵素I欠損症 carbamoyl phosphate synthetase I deficiency disease https://monarchinitiative.org/MONDO:0009376 NANDO:2200477 http://nanbyodata.jp/ontology/NANDO_2200477 MONDO:0009377 http://www.w3.org/2004/02/skos/core#exactMatch Nアセチルグルタミン酸合成酵素欠損による高アンモニア血症 hyperammonemia due to N-acetylglutamate synthase deficiency https://monarchinitiative.org/MONDO:0009377 NANDO:2200485 http://nanbyodata.jp/ontology/NANDO_2200485 MONDO:0009393 http://www.w3.org/2004/02/skos/core#exactMatch オルニチントランスロカーゼ欠損症 ornithine translocase deficiency https://monarchinitiative.org/MONDO:0009393 NANDO:2200537 http://nanbyodata.jp/ontology/NANDO_2200537 MONDO:0009414 http://www.w3.org/2004/02/skos/core#closeMatch 肝グリコーゲン合成酵素欠損による糖原病 glycogen storage disorder due to hepatic glycogen synthase deficiency https://monarchinitiative.org/MONDO:0009414 NANDO:2200494 http://nanbyodata.jp/ontology/NANDO_2200494 MONDO:0009475 http://www.w3.org/2004/02/skos/core#exactMatch イソ吉草酸血症 isovaleric acidemia https://monarchinitiative.org/MONDO:0009475 NANDO:2200499 http://nanbyodata.jp/ontology/NANDO_2200499 MONDO:0009492 http://www.w3.org/2004/02/skos/core#exactMatch スクシニル-CoA:3-ケト酸CoAトランスフェラーゼ欠損症 succinyl-CoA:3-ketoacid CoA transferase deficiency https://monarchinitiative.org/MONDO:0009492 NANDO:2200497 http://nanbyodata.jp/ontology/NANDO_2200497 MONDO:0009520 http://www.w3.org/2004/02/skos/core#exactMatch 3-ヒドロキシ-3-メチルグルタル酸尿症 3-hydroxy-3-methylglutaric aciduria https://monarchinitiative.org/MONDO:0009520 NANDO:2200473 http://nanbyodata.jp/ontology/NANDO_2200473 MONDO:0009563 http://www.w3.org/2004/02/skos/core#exactMatch メープルシロップ尿症 maple syrup urine disease https://monarchinitiative.org/MONDO:0009563 NANDO:2200509 http://nanbyodata.jp/ontology/NANDO_2200509 MONDO:0009705 http://www.w3.org/2004/02/skos/core#exactMatch カルニチンパルミトイルトランスフェラーゼ1A欠損症 carnitine palmitoyl transferase 1A deficiency https://monarchinitiative.org/MONDO:0009705 NANDO:2200527 http://nanbyodata.jp/ontology/NANDO_2200527 MONDO:0009723 http://www.w3.org/2004/02/skos/core#exactMatch リー症候群 Leigh syndrome https://monarchinitiative.org/MONDO:0009723 NANDO:2200484 http://nanbyodata.jp/ontology/NANDO_2200484 MONDO:0009796 http://www.w3.org/2004/02/skos/core#closeMatch オルニチンアミノトランスフェラーゼ欠損症 ornithine aminotransferase deficiency https://monarchinitiative.org/MONDO:0009796 NANDO:2200486 http://nanbyodata.jp/ontology/NANDO_2200486 MONDO:0009796 http://www.w3.org/2004/02/skos/core#closeMatch オルニチンアミノトランスフェラーゼ欠損症 ornithine aminotransferase deficiency https://monarchinitiative.org/MONDO:0009796 NANDO:2200519 http://nanbyodata.jp/ontology/NANDO_2200519 MONDO:0009949 http://www.w3.org/2004/02/skos/core#exactMatch ピルビン酸カルボキシラーゼ欠損症 pyruvate carboxylase deficiency disease https://monarchinitiative.org/MONDO:0009949 NANDO:2200469 http://nanbyodata.jp/ontology/NANDO_2200469 MONDO:0010160 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症II型 tyrosinemia type II https://monarchinitiative.org/MONDO:0010160 NANDO:2200470 http://nanbyodata.jp/ontology/NANDO_2200470 MONDO:0010162 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症III型 tyrosinemia type III https://monarchinitiative.org/MONDO:0010162 NANDO:2200505 http://nanbyodata.jp/ontology/NANDO_2200505 MONDO:0010613 http://www.w3.org/2004/02/skos/core#exactMatch 先天性グリセロールキナーゼ欠損症 inborn glycerol kinase deficiency https://monarchinitiative.org/MONDO:0010613 NANDO:2200479 http://nanbyodata.jp/ontology/NANDO_2200479 MONDO:0010703 http://www.w3.org/2004/02/skos/core#exactMatch OTC欠損症 ornithine carbamoyltransferase deficiency https://monarchinitiative.org/MONDO:0010703 NANDO:2200529 http://nanbyodata.jp/ontology/NANDO_2200529 MONDO:0010787 http://www.w3.org/2004/02/skos/core#exactMatch カーンズ・セイヤー症候群 Kearns-Sayre syndrome https://monarchinitiative.org/MONDO:0010787 NANDO:2200525 http://nanbyodata.jp/ontology/NANDO_2200525 MONDO:0010789 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア脳筋症,乳酸アシドーシス,脳卒中様エピソード MELAS syndrome https://monarchinitiative.org/MONDO:0010789 NANDO:2200526 http://nanbyodata.jp/ontology/NANDO_2200526 MONDO:0010790 http://www.w3.org/2004/02/skos/core#exactMatch 赤色ぼろ線維・ミオクローヌスてんかん症候群 MERRF syndrome https://monarchinitiative.org/MONDO:0010790 NANDO:2200476 http://nanbyodata.jp/ontology/NANDO_2200476 MONDO:0011612 http://www.w3.org/2004/02/skos/core#exactMatch グリシン脳症 glycine encephalopathy https://monarchinitiative.org/MONDO:0011612 NANDO:2200498 http://nanbyodata.jp/ontology/NANDO_2200498 MONDO:0011614 http://www.w3.org/2004/02/skos/core#exactMatch 3-ヒドロキシ-3-メチルグルタリルCoA合成酵素欠損症 3-hydroxy-3-methylglutaryl-CoA synthase deficiency https://monarchinitiative.org/MONDO:0011614 NANDO:2200492 http://nanbyodata.jp/ontology/NANDO_2200492 MONDO:0011628 http://www.w3.org/2004/02/skos/core#exactMatch プロピオン酸血症 propionic acidemia https://monarchinitiative.org/MONDO:0011628 NANDO:2200545 http://nanbyodata.jp/ontology/NANDO_2200545 MONDO:0011724 http://www.w3.org/2004/02/skos/core#exactMatch GLUT1欠損による脳症 encephalopathy due to GLUT1 deficiency https://monarchinitiative.org/MONDO:0011724 NANDO:2200520 http://nanbyodata.jp/ontology/NANDO_2200520 MONDO:0011730 http://www.w3.org/2004/02/skos/core#exactMatch フマラーゼ欠損症 fumaric aciduria https://monarchinitiative.org/MONDO:0011730 NANDO:2200515 http://nanbyodata.jp/ontology/NANDO_2200515 MONDO:0012172 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア三頭酵素欠損症 mitochondrial trifunctional protein deficiency https://monarchinitiative.org/MONDO:0012172 NANDO:2200500 http://nanbyodata.jp/ontology/NANDO_2200500 MONDO:0015454 http://www.w3.org/2004/02/skos/core#exactMatch 複合カルボキシラーゼ欠損症 multiple carboxylase deficiency https://monarchinitiative.org/MONDO:0015454 NANDO:2200510 http://nanbyodata.jp/ontology/NANDO_2200510 MONDO:0015515 http://www.w3.org/2004/02/skos/core#closeMatch 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://monarchinitiative.org/MONDO:0015515 NANDO:2200483 http://nanbyodata.jp/ontology/NANDO_2200483 MONDO:0016602 http://www.w3.org/2004/02/skos/core#exactMatch シトリン欠損症 citrin deficiency https://monarchinitiative.org/MONDO:0016602 NANDO:2200536 http://nanbyodata.jp/ontology/NANDO_2200536 MONDO:0017320 http://www.w3.org/2004/02/skos/core#exactMatch 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://monarchinitiative.org/MONDO:0017320 NANDO:2200496 http://nanbyodata.jp/ontology/NANDO_2200496 MONDO:0017359 http://www.w3.org/2004/02/skos/core#exactMatch 3-メチルグルタコン酸尿症 3-methylglutaconic aciduria https://monarchinitiative.org/MONDO:0017359 NANDO:2200528 http://nanbyodata.jp/ontology/NANDO_2200528 MONDO:0018158 http://www.w3.org/2004/02/skos/core#closeMatch ミトコンドリアDNA枯渇症候群 mitochondrial DNA depletion syndrome https://monarchinitiative.org/MONDO:0018158 NANDO:2200523 http://nanbyodata.jp/ontology/NANDO_2200523 MONDO:0018158 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリアDNA枯渇症候群 mitochondrial DNA depletion syndrome https://monarchinitiative.org/MONDO:0018158 NANDO:2200495 http://nanbyodata.jp/ontology/NANDO_2200495 MONDO:0018950 http://www.w3.org/2004/02/skos/core#exactMatch 3-メチルクロトニルCoAカルボキシラーゼ欠損症 3-methylcrotonyl-CoA carboxylase deficiency https://monarchinitiative.org/MONDO:0018950 NANDO:2200518 http://nanbyodata.jp/ontology/NANDO_2200518 MONDO:0019169 http://www.w3.org/2004/02/skos/core#exactMatch ピルビン酸デヒドロゲナーゼ欠損症 pyruvate dehydrogenase deficiency https://monarchinitiative.org/MONDO:0019169 NANDO:2200506 http://nanbyodata.jp/ontology/NANDO_2200506 MONDO:0019218 http://www.w3.org/2004/02/skos/core#exactMatch 先天性胆汁酸合成障害 inborn disorder of bile acid synthesis https://monarchinitiative.org/MONDO:0019218 NANDO:2200475 http://nanbyodata.jp/ontology/NANDO_2200475 MONDO:0000351 http://www.w3.org/2004/02/skos/core#exactMatch "" disorder of methionine catabolism https://monarchinitiative.org/MONDO:0000351 NANDO:2200491 http://nanbyodata.jp/ontology/NANDO_2200491 MONDO:0002012 http://www.w3.org/2004/02/skos/core#exactMatch "" methylmalonic acidemia https://monarchinitiative.org/MONDO:0002012 NANDO:2200474 http://nanbyodata.jp/ontology/NANDO_2200474 MONDO:0004737 http://www.w3.org/2004/02/skos/core#exactMatch "" homocystinuria https://monarchinitiative.org/MONDO:0004737 NANDO:2200471 http://nanbyodata.jp/ontology/NANDO_2200471 MONDO:0023419 http://www.w3.org/2004/02/skos/core#exactMatch "" hyperprolinemia https://monarchinitiative.org/MONDO:0023419 NANDO:2200555 http://nanbyodata.jp/ontology/NANDO_2200555 MONDO:0008830 http://www.w3.org/2004/02/skos/core#exactMatch アスパルチルグルコサミン尿症 aspartylglucosaminuria https://monarchinitiative.org/MONDO:0008830 NANDO:2200553 http://nanbyodata.jp/ontology/NANDO_2200553 MONDO:0009254 http://www.w3.org/2004/02/skos/core#exactMatch フコシドーシス fucosidosis https://monarchinitiative.org/MONDO:0009254 NANDO:2200551 http://nanbyodata.jp/ontology/NANDO_2200551 MONDO:0009661 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症6型 mucopolysaccharidosis type 6 https://monarchinitiative.org/MONDO:0009661 NANDO:2200552 http://nanbyodata.jp/ontology/NANDO_2200552 MONDO:0009662 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症7型 mucopolysaccharidosis type 7 https://monarchinitiative.org/MONDO:0009662 NANDO:2200557 http://nanbyodata.jp/ontology/NANDO_2200557 MONDO:0009737 http://www.w3.org/2004/02/skos/core#exactMatch ガラクトシアリドーシス galactosialidosis https://monarchinitiative.org/MONDO:0009737 NANDO:2200548 http://nanbyodata.jp/ontology/NANDO_2200548 MONDO:0010674 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型 mucopolysaccharidosis type 2 https://monarchinitiative.org/MONDO:0010674 NANDO:2200559 http://nanbyodata.jp/ontology/NANDO_2200559 MONDO:0017720 http://www.w3.org/2004/02/skos/core#exactMatch GM2ガングリオシドーシス GM2 gangliosidosis https://monarchinitiative.org/MONDO:0017720 NANDO:2200556 http://nanbyodata.jp/ontology/NANDO_2200556 MONDO:0017734 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス sialidosis https://monarchinitiative.org/MONDO:0017734 NANDO:2200558 http://nanbyodata.jp/ontology/NANDO_2200558 MONDO:0018149 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス GM1 gangliosidosis https://monarchinitiative.org/MONDO:0018149 NANDO:2200562 http://nanbyodata.jp/ontology/NANDO_2200562 MONDO:0018150 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病 Gaucher disease https://monarchinitiative.org/MONDO:0018150 NANDO:2200560 http://nanbyodata.jp/ontology/NANDO_2200560 MONDO:0018868 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー metachromatic leukodystrophy https://monarchinitiative.org/MONDO:0018868 NANDO:2200549 http://nanbyodata.jp/ontology/NANDO_2200549 MONDO:0018937 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症3型 mucopolysaccharidosis type 3 https://monarchinitiative.org/MONDO:0018937 NANDO:2200550 http://nanbyodata.jp/ontology/NANDO_2200550 MONDO:0018938 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4型 mucopolysaccharidosis type 4 https://monarchinitiative.org/MONDO:0018938 NANDO:2200561 http://nanbyodata.jp/ontology/NANDO_2200561 MONDO:0001982 http://www.w3.org/2004/02/skos/core#exactMatch "" Niemann-Pick disease https://monarchinitiative.org/MONDO:0001982 NANDO:1200975 http://nanbyodata.jp/ontology/NANDO_1200975 "" "" "" "" "" NANDO:1200976 http://nanbyodata.jp/ontology/NANDO_1200976 "" "" "" "" "" NANDO:1200977 http://nanbyodata.jp/ontology/NANDO_1200977 "" "" "" "" "" NANDO:1200981 http://nanbyodata.jp/ontology/NANDO_1200981 "" "" "" "" "" NANDO:1200993 http://nanbyodata.jp/ontology/NANDO_1200993 "" "" "" "" "" NANDO:1200999 http://nanbyodata.jp/ontology/NANDO_1200999 "" "" "" "" "" NANDO:1201002 http://nanbyodata.jp/ontology/NANDO_1201002 "" "" "" "" "" NANDO:1201005 http://nanbyodata.jp/ontology/NANDO_1201005 "" "" "" "" "" NANDO:1201008 http://nanbyodata.jp/ontology/NANDO_1201008 "" "" "" "" "" NANDO:1201012 http://nanbyodata.jp/ontology/NANDO_1201012 "" "" "" "" "" NANDO:1201013 http://nanbyodata.jp/ontology/NANDO_1201013 "" "" "" "" "" NANDO:1201014 http://nanbyodata.jp/ontology/NANDO_1201014 "" "" "" "" "" NANDO:1201015 http://nanbyodata.jp/ontology/NANDO_1201015 "" "" "" "" "" NANDO:1201016 http://nanbyodata.jp/ontology/NANDO_1201016 "" "" "" "" "" NANDO:1201017 http://nanbyodata.jp/ontology/NANDO_1201017 "" "" "" "" "" NANDO:1201020 http://nanbyodata.jp/ontology/NANDO_1201020 "" "" "" "" "" NANDO:1201022 http://nanbyodata.jp/ontology/NANDO_1201022 "" "" "" "" "" NANDO:1201023 http://nanbyodata.jp/ontology/NANDO_1201023 "" "" "" "" "" NANDO:1201024 http://nanbyodata.jp/ontology/NANDO_1201024 "" "" "" "" "" NANDO:1201025 http://nanbyodata.jp/ontology/NANDO_1201025 "" "" "" "" "" NANDO:1201026 http://nanbyodata.jp/ontology/NANDO_1201026 "" "" "" "" "" NANDO:1201027 http://nanbyodata.jp/ontology/NANDO_1201027 "" "" "" "" "" NANDO:1201028 http://nanbyodata.jp/ontology/NANDO_1201028 "" "" "" "" "" NANDO:1201029 http://nanbyodata.jp/ontology/NANDO_1201029 "" "" "" "" "" NANDO:1201030 http://nanbyodata.jp/ontology/NANDO_1201030 "" "" "" "" "" NANDO:1201031 http://nanbyodata.jp/ontology/NANDO_1201031 "" "" "" "" "" NANDO:1201043 http://nanbyodata.jp/ontology/NANDO_1201043 "" "" "" "" "" NANDO:1201050 http://nanbyodata.jp/ontology/NANDO_1201050 "" "" "" "" "" NANDO:1201052 http://nanbyodata.jp/ontology/NANDO_1201052 "" "" "" "" "" NANDO:1201053 http://nanbyodata.jp/ontology/NANDO_1201053 "" "" "" "" "" NANDO:1201054 http://nanbyodata.jp/ontology/NANDO_1201054 "" "" "" "" "" NANDO:1201055 http://nanbyodata.jp/ontology/NANDO_1201055 "" "" "" "" "" NANDO:1201061 http://nanbyodata.jp/ontology/NANDO_1201061 "" "" "" "" "" NANDO:1201067 http://nanbyodata.jp/ontology/NANDO_1201067 "" "" "" "" "" NANDO:1201082 http://nanbyodata.jp/ontology/NANDO_1201082 "" "" "" "" "" NANDO:1201104 http://nanbyodata.jp/ontology/NANDO_1201104 "" "" "" "" "" NANDO:1201105 http://nanbyodata.jp/ontology/NANDO_1201105 "" "" "" "" "" NANDO:1201106 http://nanbyodata.jp/ontology/NANDO_1201106 "" "" "" "" "" NANDO:2000001 http://nanbyodata.jp/ontology/NANDO_2000001 "" "" "" "" "" NANDO:2100001 http://nanbyodata.jp/ontology/NANDO_2100001 "" "" "" "" "" NANDO:2100003 http://nanbyodata.jp/ontology/NANDO_2100003 "" "" "" "" "" NANDO:2100006 http://nanbyodata.jp/ontology/NANDO_2100006 "" "" "" "" "" NANDO:2100008 http://nanbyodata.jp/ontology/NANDO_2100008 "" "" "" "" "" NANDO:2100010 http://nanbyodata.jp/ontology/NANDO_2100010 "" "" "" "" "" NANDO:2100011 http://nanbyodata.jp/ontology/NANDO_2100011 "" "" "" "" "" NANDO:2100012 http://nanbyodata.jp/ontology/NANDO_2100012 "" "" "" "" "" NANDO:2100013 http://nanbyodata.jp/ontology/NANDO_2100013 "" "" "" "" "" NANDO:2100014 http://nanbyodata.jp/ontology/NANDO_2100014 "" "" "" "" "" NANDO:2100015 http://nanbyodata.jp/ontology/NANDO_2100015 "" "" "" "" "" NANDO:2100016 http://nanbyodata.jp/ontology/NANDO_2100016 "" "" "" "" "" NANDO:2100017 http://nanbyodata.jp/ontology/NANDO_2100017 "" "" "" "" "" NANDO:2100018 http://nanbyodata.jp/ontology/NANDO_2100018 "" "" "" "" "" NANDO:2100019 http://nanbyodata.jp/ontology/NANDO_2100019 "" "" "" "" "" NANDO:2100020 http://nanbyodata.jp/ontology/NANDO_2100020 "" "" "" "" "" NANDO:2100021 http://nanbyodata.jp/ontology/NANDO_2100021 "" "" "" "" "" NANDO:2100022 http://nanbyodata.jp/ontology/NANDO_2100022 "" "" "" "" "" NANDO:2100024 http://nanbyodata.jp/ontology/NANDO_2100024 "" "" "" "" "" NANDO:2100025 http://nanbyodata.jp/ontology/NANDO_2100025 "" "" "" "" "" NANDO:2100026 http://nanbyodata.jp/ontology/NANDO_2100026 "" "" "" "" "" NANDO:2100027 http://nanbyodata.jp/ontology/NANDO_2100027 "" "" "" "" "" NANDO:2100028 http://nanbyodata.jp/ontology/NANDO_2100028 "" "" "" "" "" NANDO:2100029 http://nanbyodata.jp/ontology/NANDO_2100029 "" "" "" "" "" NANDO:2100030 http://nanbyodata.jp/ontology/NANDO_2100030 "" "" "" "" "" NANDO:2100031 http://nanbyodata.jp/ontology/NANDO_2100031 "" "" "" "" "" NANDO:2100032 http://nanbyodata.jp/ontology/NANDO_2100032 "" "" "" "" "" NANDO:2100033 http://nanbyodata.jp/ontology/NANDO_2100033 "" "" "" "" "" NANDO:2100034 http://nanbyodata.jp/ontology/NANDO_2100034 "" "" "" "" "" NANDO:2100035 http://nanbyodata.jp/ontology/NANDO_2100035 "" "" "" "" "" NANDO:2100036 http://nanbyodata.jp/ontology/NANDO_2100036 "" "" "" "" "" NANDO:2100037 http://nanbyodata.jp/ontology/NANDO_2100037 "" "" "" "" "" NANDO:2100038 http://nanbyodata.jp/ontology/NANDO_2100038 "" "" "" "" "" NANDO:2100039 http://nanbyodata.jp/ontology/NANDO_2100039 "" "" "" "" "" NANDO:2100040 http://nanbyodata.jp/ontology/NANDO_2100040 "" "" "" "" "" NANDO:2100041 http://nanbyodata.jp/ontology/NANDO_2100041 "" "" "" "" "" NANDO:2100042 http://nanbyodata.jp/ontology/NANDO_2100042 "" "" "" "" "" NANDO:2100043 http://nanbyodata.jp/ontology/NANDO_2100043 "" "" "" "" "" NANDO:2100044 http://nanbyodata.jp/ontology/NANDO_2100044 "" "" "" "" "" NANDO:2100045 http://nanbyodata.jp/ontology/NANDO_2100045 "" "" "" "" "" NANDO:2100046 http://nanbyodata.jp/ontology/NANDO_2100046 "" "" "" "" "" NANDO:2100047 http://nanbyodata.jp/ontology/NANDO_2100047 "" "" "" "" "" NANDO:2100048 http://nanbyodata.jp/ontology/NANDO_2100048 "" "" "" "" "" NANDO:2100050 http://nanbyodata.jp/ontology/NANDO_2100050 "" "" "" "" "" NANDO:2100051 http://nanbyodata.jp/ontology/NANDO_2100051 "" "" "" "" "" NANDO:2100052 http://nanbyodata.jp/ontology/NANDO_2100052 "" "" "" "" "" NANDO:2100053 http://nanbyodata.jp/ontology/NANDO_2100053 "" "" "" "" "" NANDO:2100054 http://nanbyodata.jp/ontology/NANDO_2100054 "" "" "" "" "" NANDO:2100055 http://nanbyodata.jp/ontology/NANDO_2100055 "" "" 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http://nanbyodata.jp/ontology/NANDO_2100130 "" "" "" "" "" NANDO:2100131 http://nanbyodata.jp/ontology/NANDO_2100131 "" "" "" "" "" NANDO:2100133 http://nanbyodata.jp/ontology/NANDO_2100133 "" "" "" "" "" NANDO:2100134 http://nanbyodata.jp/ontology/NANDO_2100134 "" "" "" "" "" NANDO:2100136 http://nanbyodata.jp/ontology/NANDO_2100136 "" "" "" "" "" NANDO:2100137 http://nanbyodata.jp/ontology/NANDO_2100137 "" "" "" "" "" NANDO:2100138 http://nanbyodata.jp/ontology/NANDO_2100138 "" "" "" "" "" NANDO:2100141 http://nanbyodata.jp/ontology/NANDO_2100141 "" "" "" "" "" NANDO:2100142 http://nanbyodata.jp/ontology/NANDO_2100142 "" "" "" "" "" NANDO:2100143 http://nanbyodata.jp/ontology/NANDO_2100143 "" "" "" "" "" NANDO:2100144 http://nanbyodata.jp/ontology/NANDO_2100144 "" "" "" "" "" NANDO:2100145 http://nanbyodata.jp/ontology/NANDO_2100145 "" "" "" "" "" NANDO:2100146 http://nanbyodata.jp/ontology/NANDO_2100146 "" "" "" "" "" NANDO:2100147 http://nanbyodata.jp/ontology/NANDO_2100147 "" "" "" "" "" NANDO:2100149 http://nanbyodata.jp/ontology/NANDO_2100149 "" "" "" "" "" NANDO:2100150 http://nanbyodata.jp/ontology/NANDO_2100150 "" "" "" "" "" NANDO:2100152 http://nanbyodata.jp/ontology/NANDO_2100152 "" "" "" "" "" NANDO:2100153 http://nanbyodata.jp/ontology/NANDO_2100153 "" "" "" "" "" NANDO:2100154 http://nanbyodata.jp/ontology/NANDO_2100154 "" "" "" "" "" NANDO:2100155 http://nanbyodata.jp/ontology/NANDO_2100155 "" "" "" "" "" NANDO:2100158 http://nanbyodata.jp/ontology/NANDO_2100158 "" "" "" "" "" NANDO:2100167 http://nanbyodata.jp/ontology/NANDO_2100167 "" "" "" "" "" NANDO:2100168 http://nanbyodata.jp/ontology/NANDO_2100168 "" "" "" "" "" NANDO:2100169 http://nanbyodata.jp/ontology/NANDO_2100169 "" "" "" "" "" NANDO:2100170 http://nanbyodata.jp/ontology/NANDO_2100170 "" "" "" "" "" NANDO:2100171 http://nanbyodata.jp/ontology/NANDO_2100171 "" "" "" "" "" NANDO:2100173 http://nanbyodata.jp/ontology/NANDO_2100173 "" "" "" "" "" NANDO:2100174 http://nanbyodata.jp/ontology/NANDO_2100174 "" "" "" "" "" NANDO:2100176 http://nanbyodata.jp/ontology/NANDO_2100176 "" "" "" "" "" NANDO:2100178 http://nanbyodata.jp/ontology/NANDO_2100178 "" "" "" "" "" NANDO:2100179 http://nanbyodata.jp/ontology/NANDO_2100179 "" "" "" "" "" NANDO:2100180 http://nanbyodata.jp/ontology/NANDO_2100180 "" "" "" "" "" NANDO:2100182 http://nanbyodata.jp/ontology/NANDO_2100182 "" "" "" "" "" NANDO:2100184 http://nanbyodata.jp/ontology/NANDO_2100184 "" "" "" "" "" NANDO:2100185 http://nanbyodata.jp/ontology/NANDO_2100185 "" "" "" "" "" NANDO:2100186 http://nanbyodata.jp/ontology/NANDO_2100186 "" "" "" "" "" NANDO:2100187 http://nanbyodata.jp/ontology/NANDO_2100187 "" "" "" "" "" NANDO:2100189 http://nanbyodata.jp/ontology/NANDO_2100189 "" "" "" "" "" NANDO:2100190 http://nanbyodata.jp/ontology/NANDO_2100190 "" "" "" "" "" NANDO:2100191 http://nanbyodata.jp/ontology/NANDO_2100191 "" "" "" "" "" NANDO:2100192 http://nanbyodata.jp/ontology/NANDO_2100192 "" "" "" "" "" NANDO:2100193 http://nanbyodata.jp/ontology/NANDO_2100193 "" "" "" "" "" NANDO:2100194 http://nanbyodata.jp/ontology/NANDO_2100194 "" "" "" "" "" NANDO:2100195 http://nanbyodata.jp/ontology/NANDO_2100195 "" "" "" "" "" NANDO:2100196 http://nanbyodata.jp/ontology/NANDO_2100196 "" "" "" "" "" NANDO:2100197 http://nanbyodata.jp/ontology/NANDO_2100197 "" "" "" "" "" NANDO:2100198 http://nanbyodata.jp/ontology/NANDO_2100198 "" "" "" "" "" NANDO:2100199 http://nanbyodata.jp/ontology/NANDO_2100199 "" "" "" "" "" NANDO:2100200 http://nanbyodata.jp/ontology/NANDO_2100200 "" "" "" "" "" NANDO:2100201 http://nanbyodata.jp/ontology/NANDO_2100201 "" "" "" "" "" NANDO:2100205 http://nanbyodata.jp/ontology/NANDO_2100205 "" "" "" "" "" NANDO:2100206 http://nanbyodata.jp/ontology/NANDO_2100206 "" "" "" "" "" NANDO:2100207 http://nanbyodata.jp/ontology/NANDO_2100207 "" "" "" "" "" NANDO:2100208 http://nanbyodata.jp/ontology/NANDO_2100208 "" "" "" "" "" NANDO:2100209 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"" "" "" NANDO:2100226 http://nanbyodata.jp/ontology/NANDO_2100226 "" "" "" "" "" NANDO:2100228 http://nanbyodata.jp/ontology/NANDO_2100228 "" "" "" "" "" NANDO:2100229 http://nanbyodata.jp/ontology/NANDO_2100229 "" "" "" "" "" NANDO:2100230 http://nanbyodata.jp/ontology/NANDO_2100230 "" "" "" "" "" NANDO:2100231 http://nanbyodata.jp/ontology/NANDO_2100231 "" "" "" "" "" NANDO:2100232 http://nanbyodata.jp/ontology/NANDO_2100232 "" "" "" "" "" NANDO:2100235 http://nanbyodata.jp/ontology/NANDO_2100235 "" "" "" "" "" NANDO:2100236 http://nanbyodata.jp/ontology/NANDO_2100236 "" "" "" "" "" NANDO:2100238 http://nanbyodata.jp/ontology/NANDO_2100238 "" "" "" "" "" NANDO:2100239 http://nanbyodata.jp/ontology/NANDO_2100239 "" "" "" "" "" NANDO:2100240 http://nanbyodata.jp/ontology/NANDO_2100240 "" "" "" "" "" NANDO:2100242 http://nanbyodata.jp/ontology/NANDO_2100242 "" "" "" "" "" NANDO:2100243 http://nanbyodata.jp/ontology/NANDO_2100243 "" "" "" "" "" NANDO:2100244 http://nanbyodata.jp/ontology/NANDO_2100244 "" "" "" "" "" NANDO:2100245 http://nanbyodata.jp/ontology/NANDO_2100245 "" "" "" "" "" NANDO:2100246 http://nanbyodata.jp/ontology/NANDO_2100246 "" "" "" "" "" NANDO:2100247 http://nanbyodata.jp/ontology/NANDO_2100247 "" "" "" "" "" NANDO:2100248 http://nanbyodata.jp/ontology/NANDO_2100248 "" "" "" "" "" NANDO:2100249 http://nanbyodata.jp/ontology/NANDO_2100249 "" "" "" "" "" NANDO:2100250 http://nanbyodata.jp/ontology/NANDO_2100250 "" "" "" "" "" NANDO:2100251 http://nanbyodata.jp/ontology/NANDO_2100251 "" "" "" "" "" NANDO:2100252 http://nanbyodata.jp/ontology/NANDO_2100252 "" "" "" "" "" NANDO:2100253 http://nanbyodata.jp/ontology/NANDO_2100253 "" "" "" "" "" NANDO:2100254 http://nanbyodata.jp/ontology/NANDO_2100254 "" "" "" "" "" NANDO:2100255 http://nanbyodata.jp/ontology/NANDO_2100255 "" "" "" "" "" NANDO:2100258 http://nanbyodata.jp/ontology/NANDO_2100258 "" "" "" "" "" NANDO:2100260 http://nanbyodata.jp/ontology/NANDO_2100260 "" "" "" "" "" NANDO:2100261 http://nanbyodata.jp/ontology/NANDO_2100261 "" "" "" "" "" NANDO:2100262 http://nanbyodata.jp/ontology/NANDO_2100262 "" "" "" "" "" NANDO:2100263 http://nanbyodata.jp/ontology/NANDO_2100263 "" "" "" "" "" NANDO:2100264 http://nanbyodata.jp/ontology/NANDO_2100264 "" "" "" "" "" NANDO:2100265 http://nanbyodata.jp/ontology/NANDO_2100265 "" "" "" "" "" NANDO:2100266 http://nanbyodata.jp/ontology/NANDO_2100266 "" "" "" "" "" NANDO:2100267 http://nanbyodata.jp/ontology/NANDO_2100267 "" "" "" "" "" NANDO:2100268 http://nanbyodata.jp/ontology/NANDO_2100268 "" "" "" "" "" NANDO:2100269 http://nanbyodata.jp/ontology/NANDO_2100269 "" "" "" "" "" NANDO:2100270 http://nanbyodata.jp/ontology/NANDO_2100270 "" "" "" "" "" NANDO:2100271 http://nanbyodata.jp/ontology/NANDO_2100271 "" "" "" "" "" NANDO:2100272 http://nanbyodata.jp/ontology/NANDO_2100272 "" "" "" "" "" NANDO:2100273 http://nanbyodata.jp/ontology/NANDO_2100273 "" "" "" "" "" NANDO:2100274 http://nanbyodata.jp/ontology/NANDO_2100274 "" "" "" "" "" NANDO:2100275 http://nanbyodata.jp/ontology/NANDO_2100275 "" "" "" "" "" NANDO:2100276 http://nanbyodata.jp/ontology/NANDO_2100276 "" "" "" "" "" NANDO:2100277 http://nanbyodata.jp/ontology/NANDO_2100277 "" "" "" "" "" NANDO:2100278 http://nanbyodata.jp/ontology/NANDO_2100278 "" "" "" "" "" NANDO:2100280 http://nanbyodata.jp/ontology/NANDO_2100280 "" "" "" "" "" NANDO:2100282 http://nanbyodata.jp/ontology/NANDO_2100282 "" "" "" "" "" NANDO:2100284 http://nanbyodata.jp/ontology/NANDO_2100284 "" "" "" "" "" NANDO:2100285 http://nanbyodata.jp/ontology/NANDO_2100285 "" "" "" "" "" NANDO:2100286 http://nanbyodata.jp/ontology/NANDO_2100286 "" "" "" "" "" NANDO:2100287 http://nanbyodata.jp/ontology/NANDO_2100287 "" "" "" "" "" NANDO:2100288 http://nanbyodata.jp/ontology/NANDO_2100288 "" "" "" "" "" NANDO:2100289 http://nanbyodata.jp/ontology/NANDO_2100289 "" "" "" "" "" NANDO:2100290 http://nanbyodata.jp/ontology/NANDO_2100290 "" "" "" "" "" NANDO:2100292 http://nanbyodata.jp/ontology/NANDO_2100292 "" "" "" "" "" NANDO:2100293 http://nanbyodata.jp/ontology/NANDO_2100293 "" "" "" "" "" NANDO:2100296 http://nanbyodata.jp/ontology/NANDO_2100296 "" "" "" "" "" NANDO:2100297 http://nanbyodata.jp/ontology/NANDO_2100297 "" "" "" "" "" NANDO:2100298 http://nanbyodata.jp/ontology/NANDO_2100298 "" "" "" "" "" NANDO:2100299 http://nanbyodata.jp/ontology/NANDO_2100299 "" "" "" "" "" NANDO:2100300 http://nanbyodata.jp/ontology/NANDO_2100300 "" "" "" "" "" NANDO:2100302 http://nanbyodata.jp/ontology/NANDO_2100302 "" "" "" "" "" NANDO:2100303 http://nanbyodata.jp/ontology/NANDO_2100303 "" "" "" "" "" NANDO:2100304 http://nanbyodata.jp/ontology/NANDO_2100304 "" "" "" "" "" NANDO:2200016 http://nanbyodata.jp/ontology/NANDO_2200016 "" "" "" "" "" NANDO:2200025 http://nanbyodata.jp/ontology/NANDO_2200025 "" "" "" "" "" NANDO:2200026 http://nanbyodata.jp/ontology/NANDO_2200026 "" "" "" "" "" NANDO:2200033 http://nanbyodata.jp/ontology/NANDO_2200033 "" "" "" "" "" NANDO:2200075 http://nanbyodata.jp/ontology/NANDO_2200075 "" "" "" "" "" NANDO:2200083 http://nanbyodata.jp/ontology/NANDO_2200083 "" "" "" "" "" NANDO:2200100 http://nanbyodata.jp/ontology/NANDO_2200100 "" "" "" "" "" NANDO:2200109 http://nanbyodata.jp/ontology/NANDO_2200109 "" "" "" "" "" NANDO:2200115 http://nanbyodata.jp/ontology/NANDO_2200115 "" "" "" "" "" NANDO:2200119 http://nanbyodata.jp/ontology/NANDO_2200119 "" "" "" "" "" NANDO:2200124 http://nanbyodata.jp/ontology/NANDO_2200124 "" "" "" "" "" NANDO:2200127 http://nanbyodata.jp/ontology/NANDO_2200127 "" "" "" "" "" NANDO:2200129 http://nanbyodata.jp/ontology/NANDO_2200129 "" "" "" "" "" NANDO:2200130 http://nanbyodata.jp/ontology/NANDO_2200130 "" "" "" "" "" NANDO:2200135 http://nanbyodata.jp/ontology/NANDO_2200135 "" "" "" "" "" NANDO:2200142 http://nanbyodata.jp/ontology/NANDO_2200142 "" "" "" "" "" NANDO:2200143 http://nanbyodata.jp/ontology/NANDO_2200143 "" "" "" "" "" NANDO:2200147 http://nanbyodata.jp/ontology/NANDO_2200147 "" "" "" "" "" NANDO:2200148 http://nanbyodata.jp/ontology/NANDO_2200148 "" "" "" "" "" NANDO:2200149 http://nanbyodata.jp/ontology/NANDO_2200149 "" "" "" "" "" NANDO:2200150 http://nanbyodata.jp/ontology/NANDO_2200150 "" "" "" "" "" NANDO:2200151 http://nanbyodata.jp/ontology/NANDO_2200151 "" "" "" "" "" NANDO:2200160 http://nanbyodata.jp/ontology/NANDO_2200160 "" "" "" "" "" NANDO:2200162 http://nanbyodata.jp/ontology/NANDO_2200162 "" "" "" "" "" NANDO:2200163 http://nanbyodata.jp/ontology/NANDO_2200163 "" "" "" "" "" NANDO:2200164 http://nanbyodata.jp/ontology/NANDO_2200164 "" "" "" "" "" NANDO:2200165 http://nanbyodata.jp/ontology/NANDO_2200165 "" "" "" "" "" NANDO:2200166 http://nanbyodata.jp/ontology/NANDO_2200166 "" "" "" "" "" NANDO:2200167 http://nanbyodata.jp/ontology/NANDO_2200167 "" "" "" "" "" NANDO:2200168 http://nanbyodata.jp/ontology/NANDO_2200168 "" "" "" "" "" NANDO:2200169 http://nanbyodata.jp/ontology/NANDO_2200169 "" "" "" "" "" NANDO:2200174 http://nanbyodata.jp/ontology/NANDO_2200174 "" "" "" "" "" NANDO:2200175 http://nanbyodata.jp/ontology/NANDO_2200175 "" "" "" "" "" NANDO:2200180 http://nanbyodata.jp/ontology/NANDO_2200180 "" "" "" "" "" NANDO:2200181 http://nanbyodata.jp/ontology/NANDO_2200181 "" "" "" "" "" NANDO:2200182 http://nanbyodata.jp/ontology/NANDO_2200182 "" "" "" "" "" NANDO:2200186 http://nanbyodata.jp/ontology/NANDO_2200186 "" "" "" "" "" NANDO:2200189 http://nanbyodata.jp/ontology/NANDO_2200189 "" "" "" "" "" NANDO:2200191 http://nanbyodata.jp/ontology/NANDO_2200191 "" "" "" "" "" NANDO:2200192 http://nanbyodata.jp/ontology/NANDO_2200192 "" "" "" "" "" NANDO:2200193 http://nanbyodata.jp/ontology/NANDO_2200193 "" "" "" "" "" NANDO:2200196 http://nanbyodata.jp/ontology/NANDO_2200196 "" "" "" "" "" NANDO:2200198 http://nanbyodata.jp/ontology/NANDO_2200198 "" "" "" "" "" NANDO:2200201 http://nanbyodata.jp/ontology/NANDO_2200201 "" "" "" "" "" NANDO:2200208 http://nanbyodata.jp/ontology/NANDO_2200208 "" "" "" "" "" NANDO:2200211 http://nanbyodata.jp/ontology/NANDO_2200211 "" "" "" "" "" NANDO:2200215 http://nanbyodata.jp/ontology/NANDO_2200215 "" "" "" "" "" NANDO:2200219 http://nanbyodata.jp/ontology/NANDO_2200219 "" "" "" "" "" NANDO:2200220 http://nanbyodata.jp/ontology/NANDO_2200220 "" "" "" "" "" NANDO:2200222 http://nanbyodata.jp/ontology/NANDO_2200222 "" "" "" "" "" NANDO:2200223 http://nanbyodata.jp/ontology/NANDO_2200223 "" "" "" "" "" NANDO:2200224 http://nanbyodata.jp/ontology/NANDO_2200224 "" "" "" "" "" NANDO:2200237 http://nanbyodata.jp/ontology/NANDO_2200237 "" "" "" "" "" NANDO:2200238 http://nanbyodata.jp/ontology/NANDO_2200238 "" "" "" "" "" NANDO:2200240 http://nanbyodata.jp/ontology/NANDO_2200240 "" "" "" "" "" NANDO:2200241 http://nanbyodata.jp/ontology/NANDO_2200241 "" "" "" "" "" NANDO:2200243 http://nanbyodata.jp/ontology/NANDO_2200243 "" "" "" "" "" NANDO:2200244 http://nanbyodata.jp/ontology/NANDO_2200244 "" "" "" "" "" NANDO:2200245 http://nanbyodata.jp/ontology/NANDO_2200245 "" "" "" "" "" NANDO:2200247 http://nanbyodata.jp/ontology/NANDO_2200247 "" "" "" "" "" NANDO:2200255 http://nanbyodata.jp/ontology/NANDO_2200255 "" "" "" "" "" NANDO:2200265 http://nanbyodata.jp/ontology/NANDO_2200265 "" "" "" "" "" NANDO:2200279 http://nanbyodata.jp/ontology/NANDO_2200279 "" "" "" "" "" NANDO:2200287 http://nanbyodata.jp/ontology/NANDO_2200287 "" "" "" "" "" NANDO:2200289 http://nanbyodata.jp/ontology/NANDO_2200289 "" "" "" "" "" NANDO:2200291 http://nanbyodata.jp/ontology/NANDO_2200291 "" "" "" "" "" NANDO:2200292 http://nanbyodata.jp/ontology/NANDO_2200292 "" "" "" "" "" NANDO:2200295 http://nanbyodata.jp/ontology/NANDO_2200295 "" "" "" "" "" NANDO:2200297 http://nanbyodata.jp/ontology/NANDO_2200297 "" "" "" "" "" NANDO:2200309 http://nanbyodata.jp/ontology/NANDO_2200309 "" "" "" "" "" NANDO:2200310 http://nanbyodata.jp/ontology/NANDO_2200310 "" "" "" "" "" NANDO:2200311 http://nanbyodata.jp/ontology/NANDO_2200311 "" "" "" "" "" NANDO:2200316 http://nanbyodata.jp/ontology/NANDO_2200316 "" "" "" "" "" NANDO:2200318 http://nanbyodata.jp/ontology/NANDO_2200318 "" "" "" "" "" NANDO:2200319 http://nanbyodata.jp/ontology/NANDO_2200319 "" "" "" "" "" NANDO:2200327 http://nanbyodata.jp/ontology/NANDO_2200327 "" "" "" "" "" NANDO:2200334 http://nanbyodata.jp/ontology/NANDO_2200334 "" "" "" "" "" NANDO:2200337 http://nanbyodata.jp/ontology/NANDO_2200337 "" "" "" "" "" NANDO:2200338 http://nanbyodata.jp/ontology/NANDO_2200338 "" "" "" "" "" NANDO:2200339 http://nanbyodata.jp/ontology/NANDO_2200339 "" "" "" "" "" NANDO:2200342 http://nanbyodata.jp/ontology/NANDO_2200342 "" "" "" "" "" NANDO:2200344 http://nanbyodata.jp/ontology/NANDO_2200344 "" "" "" "" "" NANDO:2200354 http://nanbyodata.jp/ontology/NANDO_2200354 "" "" "" "" "" NANDO:2200356 http://nanbyodata.jp/ontology/NANDO_2200356 "" "" "" "" "" NANDO:2200364 http://nanbyodata.jp/ontology/NANDO_2200364 "" "" "" "" "" NANDO:2200365 http://nanbyodata.jp/ontology/NANDO_2200365 "" "" "" "" "" NANDO:2200366 http://nanbyodata.jp/ontology/NANDO_2200366 "" "" "" "" "" NANDO:2200376 http://nanbyodata.jp/ontology/NANDO_2200376 "" "" "" "" "" NANDO:2200379 http://nanbyodata.jp/ontology/NANDO_2200379 "" "" "" "" "" NANDO:2200380 http://nanbyodata.jp/ontology/NANDO_2200380 "" "" "" "" "" NANDO:2200385 http://nanbyodata.jp/ontology/NANDO_2200385 "" "" "" "" "" NANDO:2200392 http://nanbyodata.jp/ontology/NANDO_2200392 "" "" "" "" "" NANDO:2200400 http://nanbyodata.jp/ontology/NANDO_2200400 "" "" "" "" "" NANDO:2200407 http://nanbyodata.jp/ontology/NANDO_2200407 "" "" "" "" "" NANDO:2200408 http://nanbyodata.jp/ontology/NANDO_2200408 "" "" "" "" "" NANDO:2200417 http://nanbyodata.jp/ontology/NANDO_2200417 "" "" "" "" "" NANDO:2200421 http://nanbyodata.jp/ontology/NANDO_2200421 "" "" "" "" "" NANDO:2200440 http://nanbyodata.jp/ontology/NANDO_2200440 "" "" "" "" "" NANDO:2200445 http://nanbyodata.jp/ontology/NANDO_2200445 "" "" "" "" "" NANDO:2200454 http://nanbyodata.jp/ontology/NANDO_2200454 "" "" "" "" "" NANDO:2200456 http://nanbyodata.jp/ontology/NANDO_2200456 "" "" "" "" "" NANDO:2200464 http://nanbyodata.jp/ontology/NANDO_2200464 "" "" "" "" "" NANDO:2200466 http://nanbyodata.jp/ontology/NANDO_2200466 "" "" "" "" "" NANDO:2200490 http://nanbyodata.jp/ontology/NANDO_2200490 "" "" "" "" "" NANDO:2200507 http://nanbyodata.jp/ontology/NANDO_2200507 "" "" "" "" "" NANDO:2200516 http://nanbyodata.jp/ontology/NANDO_2200516 "" "" "" "" "" NANDO:2200517 http://nanbyodata.jp/ontology/NANDO_2200517 "" "" "" "" "" NANDO:2200521 http://nanbyodata.jp/ontology/NANDO_2200521 "" "" "" "" "" NANDO:2200522 http://nanbyodata.jp/ontology/NANDO_2200522 "" "" "" "" "" NANDO:2200524 http://nanbyodata.jp/ontology/NANDO_2200524 "" "" "" "" "" NANDO:2200530 http://nanbyodata.jp/ontology/NANDO_2200530 "" "" "" "" "" NANDO:2200544 http://nanbyodata.jp/ontology/NANDO_2200544 "" "" "" "" "" NANDO:2200546 http://nanbyodata.jp/ontology/NANDO_2200546 "" "" "" "" "" NANDO:2200554 http://nanbyodata.jp/ontology/NANDO_2200554 "" "" "" "" "" NANDO:2200602 http://nanbyodata.jp/ontology/NANDO_2200602 MONDO:0007750 http://www.w3.org/2004/02/skos/core#closeMatch 高コレステロール血症, 家族性, 1 hypercholesterolemia, familial, 1 https://monarchinitiative.org/MONDO:0007750 NANDO:2200634 http://nanbyodata.jp/ontology/NANDO_2200634 MONDO:0008367 http://www.w3.org/2004/02/skos/core#exactMatch 溶血を伴う赤血球リン脂質障害 red cell phospholipid defect with hemolysis https://monarchinitiative.org/MONDO:0008367 NANDO:2200604 http://nanbyodata.jp/ontology/NANDO_2200604 MONDO:0008692 http://www.w3.org/2004/02/skos/core#exactMatch 無βリポタンパク血症 abetalipoproteinemia https://monarchinitiative.org/MONDO:0008692 NANDO:2200584 http://nanbyodata.jp/ontology/NANDO_2200584 MONDO:0008713 http://www.w3.org/2004/02/skos/core#exactMatch 腸性肢端皮膚炎 acrodermatitis enteropathica https://monarchinitiative.org/MONDO:0008713 NANDO:2200617 http://nanbyodata.jp/ontology/NANDO_2200617 MONDO:0008846 http://www.w3.org/2004/02/skos/core#exactMatch 無トランスフェリン血症 atransferrinemia https://monarchinitiative.org/MONDO:0008846 NANDO:2200597 http://nanbyodata.jp/ontology/NANDO_2200597 MONDO:0009123 http://www.w3.org/2004/02/skos/core#exactMatch 起立性低血圧1 orthostatic hypotension 1 https://monarchinitiative.org/MONDO:0009123 NANDO:2200565 http://nanbyodata.jp/ontology/NANDO_2200565 MONDO:0009218 http://www.w3.org/2004/02/skos/core#exactMatch ファーバー脂肪肉芽腫症 Farber lipogranulomatosis https://monarchinitiative.org/MONDO:0009218 NANDO:2200592 http://nanbyodata.jp/ontology/NANDO_2200592 MONDO:0009238 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性葉酸吸収不全症 hereditary folate malabsorption https://monarchinitiative.org/MONDO:0009238 NANDO:2200569 http://nanbyodata.jp/ontology/NANDO_2200569 MONDO:0009290 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病II glycogen storage disease II https://monarchinitiative.org/MONDO:0009290 NANDO:2200564 http://nanbyodata.jp/ontology/NANDO_2200564 MONDO:0009499 http://www.w3.org/2004/02/skos/core#exactMatch クラッベ病 Krabbe disease https://monarchinitiative.org/MONDO:0009499 NANDO:2200608 http://nanbyodata.jp/ontology/NANDO_2200608 MONDO:0009530 http://www.w3.org/2004/02/skos/core#exactMatch リポイドタンパク症 lipoid proteinosis https://monarchinitiative.org/MONDO:0009530 NANDO:2200567 http://nanbyodata.jp/ontology/NANDO_2200567 MONDO:0009650 http://www.w3.org/2004/02/skos/core#exactMatch ムコリピドーシスII型 mucolipidosis type II https://monarchinitiative.org/MONDO:0009650 NANDO:2200590 http://nanbyodata.jp/ontology/NANDO_2200590 MONDO:0009797 http://www.w3.org/2004/02/skos/core#exactMatch オロト酸尿症 orotic aciduria https://monarchinitiative.org/MONDO:0009797 NANDO:2200631 http://nanbyodata.jp/ontology/NANDO_2200631 MONDO:0009948 http://www.w3.org/2004/02/skos/core#exactMatch 熱変形赤血球症, 遺伝性 pyropoikilocytosis, hereditary https://monarchinitiative.org/MONDO:0009948 NANDO:2200628 http://nanbyodata.jp/ontology/NANDO_2200628 MONDO:0009950 http://www.w3.org/2004/02/skos/core#exactMatch 赤血球ピルビン酸キナーゼ欠乏症 pyruvate kinase deficiency of red cells https://monarchinitiative.org/MONDO:0009950 NANDO:2200577 http://nanbyodata.jp/ontology/NANDO_2200577 MONDO:0009958 http://www.w3.org/2004/02/skos/core#exactMatch 成人レフサム病 adult Refsum disease https://monarchinitiative.org/MONDO:0009958 NANDO:2200599 http://nanbyodata.jp/ontology/NANDO_2200599 MONDO:0010083 http://www.w3.org/2004/02/skos/core#exactMatch コハク酸セミアルデヒド脱水素酵素欠損症 succinic semialdehyde dehydrogenase deficiency https://monarchinitiative.org/MONDO:0010083 NANDO:2200566 http://nanbyodata.jp/ontology/NANDO_2200566 MONDO:0010088 http://www.w3.org/2004/02/skos/core#exactMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:2200583 http://nanbyodata.jp/ontology/NANDO_2200583 MONDO:0010089 http://www.w3.org/2004/02/skos/core#exactMatch 亜硫酸オキシダーゼ単独欠損症 isolated sulfite oxidase deficiency https://monarchinitiative.org/MONDO:0010089 NANDO:2200579 http://nanbyodata.jp/ontology/NANDO_2200579 MONDO:0010200 http://www.w3.org/2004/02/skos/core#exactMatch ウィルソン病 Wilson disease https://monarchinitiative.org/MONDO:0010200 NANDO:2200586 http://nanbyodata.jp/ontology/NANDO_2200586 MONDO:0010298 http://www.w3.org/2004/02/skos/core#closeMatch レッシュ・ナイハン症候群 Lesch-Nyhan syndrome https://monarchinitiative.org/MONDO:0010298 NANDO:2200563 http://nanbyodata.jp/ontology/NANDO_2200563 MONDO:0010526 http://www.w3.org/2004/02/skos/core#exactMatch ファブリー病 Fabry disease https://monarchinitiative.org/MONDO:0010526 NANDO:2200581 http://nanbyodata.jp/ontology/NANDO_2200581 MONDO:0010572 http://www.w3.org/2004/02/skos/core#exactMatch オクシピタル・ホーン症候群 occipital horn syndrome https://monarchinitiative.org/MONDO:0010572 NANDO:2200580 http://nanbyodata.jp/ontology/NANDO_2200580 MONDO:0010651 http://www.w3.org/2004/02/skos/core#exactMatch メンケス病 Menkes disease https://monarchinitiative.org/MONDO:0010651 NANDO:2200624 http://nanbyodata.jp/ontology/NANDO_2200624 MONDO:0011382 http://www.w3.org/2004/02/skos/core#exactMatch 鎌状赤血球性貧血 sickle cell anemia https://monarchinitiative.org/MONDO:0011382 NANDO:2200582 http://nanbyodata.jp/ontology/NANDO_2200582 MONDO:0011426 http://www.w3.org/2004/02/skos/core#exactMatch NBIA4 aceruloplasminemia https://monarchinitiative.org/MONDO:0011426 NANDO:2200596 http://nanbyodata.jp/ontology/NANDO_2200596 MONDO:0012084 http://www.w3.org/2004/02/skos/core#exactMatch 芳香族L-アミノ酸脱炭酸酵素欠損症 aromatic L-amino acid decarboxylase deficiency https://monarchinitiative.org/MONDO:0012084 NANDO:2200598 http://nanbyodata.jp/ontology/NANDO_2200598 MONDO:0013166 http://www.w3.org/2004/02/skos/core#exactMatch GABAアミノ基転移酵素欠損症 GABA aminotransaminase deficiency https://monarchinitiative.org/MONDO:0013166 NANDO:2200611 http://nanbyodata.jp/ontology/NANDO_2200611 MONDO:0013282 http://www.w3.org/2004/02/skos/core#exactMatch α1-アンチトリプシン欠損症 alpha 1-antitrypsin deficiency https://monarchinitiative.org/MONDO:0013282 NANDO:2200587 http://nanbyodata.jp/ontology/NANDO_2200587 MONDO:0013869 http://www.w3.org/2004/02/skos/core#exactMatch 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://monarchinitiative.org/MONDO:0013869 NANDO:2200616 http://nanbyodata.jp/ontology/NANDO_2200616 MONDO:0015194 http://www.w3.org/2004/02/skos/core#exactMatch 鉄芽球性貧血 sideroblastic anemia https://monarchinitiative.org/MONDO:0015194 NANDO:2200614 http://nanbyodata.jp/ontology/NANDO_2200614 MONDO:0015253 http://www.w3.org/2004/02/skos/core#exactMatch ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia https://monarchinitiative.org/MONDO:0015253 NANDO:2200586 http://nanbyodata.jp/ontology/NANDO_2200586 MONDO:0016088 http://www.w3.org/2004/02/skos/core#exactMatch 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 phosphoribosyltransferase deficiency https://monarchinitiative.org/MONDO:0016088 NANDO:2200571 http://nanbyodata.jp/ontology/NANDO_2200571 MONDO:0016239 http://www.w3.org/2004/02/skos/core#exactMatch シスチン症 cystinosis https://monarchinitiative.org/MONDO:0016239 NANDO:2200635 http://nanbyodata.jp/ontology/NANDO_2200635 MONDO:0016242 http://www.w3.org/2004/02/skos/core#exactMatch ヘモグロビンC症 hemoglobin C disease https://monarchinitiative.org/MONDO:0016242 NANDO:2200573 http://nanbyodata.jp/ontology/NANDO_2200573 MONDO:0016295 http://www.w3.org/2004/02/skos/core#exactMatch 神経性セロイドリポフスチン沈着症 neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0016295 NANDO:2200602 http://nanbyodata.jp/ontology/NANDO_2200602 MONDO:0016525 http://www.w3.org/2004/02/skos/core#closeMatch 家族性高アルドステロン症 familial hyperaldosteronism https://monarchinitiative.org/MONDO:0016525 NANDO:2200594 http://nanbyodata.jp/ontology/NANDO_2200594 MONDO:0016543 http://www.w3.org/2004/02/skos/core#exactMatch BH4欠損症 hyperphenylalaninemia due to tetrahydrobiopterin deficiency https://monarchinitiative.org/MONDO:0016543 NANDO:2200630 http://nanbyodata.jp/ontology/NANDO_2200630 MONDO:0017319 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性楕円赤血球症 hereditary elliptocytosis https://monarchinitiative.org/MONDO:0017319 NANDO:2200605 http://nanbyodata.jp/ontology/NANDO_2200605 MONDO:0017773 http://www.w3.org/2004/02/skos/core#exactMatch 高比重リポタンパク欠乏症 hypoalphalipoproteinemia https://monarchinitiative.org/MONDO:0017773 NANDO:2200633 http://nanbyodata.jp/ontology/NANDO_2200633 MONDO:0017910 http://www.w3.org/2004/02/skos/core#exactMatch 脱水型遺伝性有口赤血球症 dehydrated hereditary stomatocytosis https://monarchinitiative.org/MONDO:0017910 NANDO:2200576 http://nanbyodata.jp/ontology/NANDO_2200576 MONDO:0018544 http://www.w3.org/2004/02/skos/core#exactMatch 副腎白質ジストロフィー adrenoleukodystrophy https://monarchinitiative.org/MONDO:0018544 NANDO:2200618 http://nanbyodata.jp/ontology/NANDO_2200618 MONDO:0018922 http://www.w3.org/2004/02/skos/core#exactMatch 寒冷凝集素症 cold agglutinin disease https://monarchinitiative.org/MONDO:0018922 NANDO:2200568 http://nanbyodata.jp/ontology/NANDO_2200568 MONDO:0018931 http://www.w3.org/2004/02/skos/core#exactMatch ムコリピドーシスIII型, α/β mucolipidosis type III, alpha/beta https://monarchinitiative.org/MONDO:0018931 NANDO:2200610 http://nanbyodata.jp/ontology/NANDO_2200610 MONDO:0019142 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ポルフィリン症 inherited porphyria https://monarchinitiative.org/MONDO:0019142 NANDO:2200570 http://nanbyodata.jp/ontology/NANDO_2200570 MONDO:0019148 http://www.w3.org/2004/02/skos/core#closeMatch 酸性リパーゼ欠損症 Wolman disease https://monarchinitiative.org/MONDO:0019148 NANDO:2200575 http://nanbyodata.jp/ontology/NANDO_2200575 MONDO:0019234 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム生合成異常症 peroxisome biogenesis disorder https://monarchinitiative.org/MONDO:0019234 NANDO:2200622 http://nanbyodata.jp/ontology/NANDO_2200622 MONDO:0019350 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性球状赤血球症 hereditary spherocytosis https://monarchinitiative.org/MONDO:0019350 NANDO:2200572 http://nanbyodata.jp/ontology/NANDO_2200572 MONDO:0019366 http://www.w3.org/2004/02/skos/core#exactMatch 遊離シアル酸蓄積症 free sialic acid storage disease https://monarchinitiative.org/MONDO:0019366 NANDO:2200615 http://nanbyodata.jp/ontology/NANDO_2200615 MONDO:0019403 http://www.w3.org/2004/02/skos/core#exactMatch 先天性赤血球形成異常性貧血 congenital dyserythropoietic anemia https://monarchinitiative.org/MONDO:0019403 NANDO:2200619 http://nanbyodata.jp/ontology/NANDO_2200619 MONDO:0019533 http://www.w3.org/2004/02/skos/core#exactMatch 発作性寒冷ヘモグロビン尿症 paroxysmal cold hemoglobinuria https://monarchinitiative.org/MONDO:0019533 NANDO:2200607 http://nanbyodata.jp/ontology/NANDO_2200607 MONDO:0020066 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群 Ehlers-Danlos syndrome https://monarchinitiative.org/MONDO:0020066 NANDO:2200623 http://nanbyodata.jp/ontology/NANDO_2200623 MONDO:0020102 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性有口赤血球症 hereditary stomatocytosis https://monarchinitiative.org/MONDO:0020102 NANDO:2200613 http://nanbyodata.jp/ontology/NANDO_2200613 MONDO:0020338 http://www.w3.org/2004/02/skos/core#exactMatch 後天性赤芽球癆 adult pure red cell aplasia https://monarchinitiative.org/MONDO:0020338 NANDO:2200625 http://nanbyodata.jp/ontology/NANDO_2200625 MONDO:0020459 http://www.w3.org/2004/02/skos/core#exactMatch 不安定ヘモグロビン症 unstable hemoglobin disease https://monarchinitiative.org/MONDO:0020459 NANDO:2200588 http://nanbyodata.jp/ontology/NANDO_2200588 MONDO:0000721 http://www.w3.org/2004/02/skos/core#exactMatch "" xanthinuria https://monarchinitiative.org/MONDO:0000721 NANDO:2200626 http://nanbyodata.jp/ontology/NANDO_2200626 MONDO:0000984 http://www.w3.org/2004/02/skos/core#exactMatch "" thalassemia https://monarchinitiative.org/MONDO:0000984 NANDO:2200603 http://nanbyodata.jp/ontology/NANDO_2200603 MONDO:0001336 http://www.w3.org/2004/02/skos/core#exactMatch "" familial hyperlipidemia https://monarchinitiative.org/MONDO:0001336 NANDO:2200612 http://nanbyodata.jp/ontology/NANDO_2200612 MONDO:0001700 http://www.w3.org/2004/02/skos/core#exactMatch "" megaloblastic anemia https://monarchinitiative.org/MONDO:0001700 NANDO:2200602 http://nanbyodata.jp/ontology/NANDO_2200602 MONDO:0005439 http://www.w3.org/2004/02/skos/core#exactMatch "" familial hypercholesterolemia https://monarchinitiative.org/MONDO:0005439 NANDO:2200627 http://nanbyodata.jp/ontology/NANDO_2200627 MONDO:0005775 http://www.w3.org/2004/02/skos/core#exactMatch "" G6PD deficiency https://monarchinitiative.org/MONDO:0005775 NANDO:2200595 http://nanbyodata.jp/ontology/NANDO_2200595 MONDO:0100064 http://www.w3.org/2004/02/skos/core#exactMatch "" tyrosine hydroxylase deficiency https://monarchinitiative.org/MONDO:0100064 NANDO:2200643 http://nanbyodata.jp/ontology/NANDO_2200643 MONDO:0009891 http://www.w3.org/2004/02/skos/core#exactMatch 後天性真性多血症 acquired polycythemia vera https://monarchinitiative.org/MONDO:0009891 NANDO:2200640 http://nanbyodata.jp/ontology/NANDO_2200640 MONDO:0019536 http://www.w3.org/2004/02/skos/core#exactMatch 志賀毒素関連溶血性尿毒症症候群 Shiga toxin-associated hemolytic uremic syndrome https://monarchinitiative.org/MONDO:0019536 NANDO:2200639 http://nanbyodata.jp/ontology/NANDO_2200639 MONDO:0001243 http://www.w3.org/2004/02/skos/core#exactMatch "" disseminated intravascular coagulation https://monarchinitiative.org/MONDO:0001243 NANDO:2200636 http://nanbyodata.jp/ontology/NANDO_2200636 MONDO:0003664 http://www.w3.org/2004/02/skos/core#exactMatch "" hemolytic anemia https://monarchinitiative.org/MONDO:0003664 NANDO:2200637 http://nanbyodata.jp/ontology/NANDO_2200637 MONDO:0006795 http://www.w3.org/2004/02/skos/core#exactMatch "" hypersplenism https://monarchinitiative.org/MONDO:0006795 NANDO:2200655 http://nanbyodata.jp/ontology/NANDO_2200655 MONDO:0005029 http://www.w3.org/2004/02/skos/core#exactMatch 本態性血小板血症 essential thrombocythemia https://monarchinitiative.org/MONDO:0005029 NANDO:2200696 http://nanbyodata.jp/ontology/NANDO_2200696 MONDO:0007064 http://www.w3.org/2004/02/skos/core#exactMatch 重症複合免疫不全症, 常染色体潜性, T細胞陰性, B細胞陰性, NK細胞陰性, アデノシンデアミナーゼ欠損による severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency https://monarchinitiative.org/MONDO:0007064 NANDO:2200668 http://nanbyodata.jp/ontology/NANDO_2200668 MONDO:0008332 http://www.w3.org/2004/02/skos/core#exactMatch 血小板型フォン・ヴィレブランド病 platelet-type von Willebrand disease https://monarchinitiative.org/MONDO:0008332 NANDO:2200663 http://nanbyodata.jp/ontology/NANDO_2200663 MONDO:0008555 http://www.w3.org/2004/02/skos/core#exactMatch 血小板減少症2 thrombocytopenia 2 https://monarchinitiative.org/MONDO:0008555 NANDO:2200653 http://nanbyodata.jp/ontology/NANDO_2200653 MONDO:0008556 http://www.w3.org/2004/02/skos/core#exactMatch 血小板減少症, 周期性 thrombocytopenia, cyclic https://monarchinitiative.org/MONDO:0008556 NANDO:2200645 http://nanbyodata.jp/ontology/NANDO_2200645 MONDO:0008558 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性血小板減少性紫斑病 autoimmune thrombocytopenic purpura https://monarchinitiative.org/MONDO:0008558 NANDO:2200712 http://nanbyodata.jp/ontology/NANDO_2200712 MONDO:0008564 http://www.w3.org/2004/02/skos/core#closeMatch ディジョージ症候群 DiGeorge syndrome https://monarchinitiative.org/MONDO:0008564 NANDO:2200712 http://nanbyodata.jp/ontology/NANDO_2200712 MONDO:0008644 http://www.w3.org/2004/02/skos/core#closeMatch 口蓋帆・心臓・顔症候群 velocardiofacial syndrome https://monarchinitiative.org/MONDO:0008644 NANDO:2200672 http://nanbyodata.jp/ontology/NANDO_2200672 MONDO:0008737 http://www.w3.org/2004/02/skos/core#exactMatch 先天性低フィブリノーゲン血症 congenital afibrinogenemia https://monarchinitiative.org/MONDO:0008737 NANDO:2200702 http://nanbyodata.jp/ontology/NANDO_2200702 MONDO:0008855 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスII欠損症 MHC class II deficiency https://monarchinitiative.org/MONDO:0008855 NANDO:2200685 http://nanbyodata.jp/ontology/NANDO_2200685 MONDO:0009234 http://www.w3.org/2004/02/skos/core#exactMatch 先天性高分子キニノーゲン欠損症 congenital high-molecular-weight kininogen deficiency https://monarchinitiative.org/MONDO:0009234 NANDO:2200656 http://nanbyodata.jp/ontology/NANDO_2200656 MONDO:0009276 http://www.w3.org/2004/02/skos/core#exactMatch ベルナール・スーリエ症候群 Bernard-Soulier syndrome https://monarchinitiative.org/MONDO:0009276 NANDO:2200680 http://nanbyodata.jp/ontology/NANDO_2200680 MONDO:0009315 http://www.w3.org/2004/02/skos/core#exactMatch 先天性第XII因子欠乏症 congenital factor XII deficiency https://monarchinitiative.org/MONDO:0009315 NANDO:2200687 http://nanbyodata.jp/ontology/NANDO_2200687 MONDO:0009883 http://www.w3.org/2004/02/skos/core#exactMatch α2プラスミンインヒビター欠損症 alpha-2-plasmin inhibitor deficiency https://monarchinitiative.org/MONDO:0009883 NANDO:2200671 http://nanbyodata.jp/ontology/NANDO_2200671 MONDO:0009885 http://www.w3.org/2004/02/skos/core#exactMatch スコット症候群 Scott syndrome https://monarchinitiative.org/MONDO:0009885 NANDO:2200695 http://nanbyodata.jp/ontology/NANDO_2200695 MONDO:0009973 http://www.w3.org/2004/02/skos/core#exactMatch 細網異形成症 reticular dysgenesis https://monarchinitiative.org/MONDO:0009973 NANDO:2200700 http://nanbyodata.jp/ontology/NANDO_2200700 MONDO:0010023 http://www.w3.org/2004/02/skos/core#exactMatch ZAP70欠損による複合免疫不全症 combined immunodeficiency due to ZAP70 deficiency https://monarchinitiative.org/MONDO:0010023 NANDO:2200661 http://nanbyodata.jp/ontology/NANDO_2200661 MONDO:0010121 http://www.w3.org/2004/02/skos/core#exactMatch 血小板減少-橈骨欠損症候群 thrombocytopenia-absent radius syndrome https://monarchinitiative.org/MONDO:0010121 NANDO:2200694 http://nanbyodata.jp/ontology/NANDO_2200694 MONDO:0010315 http://www.w3.org/2004/02/skos/core#exactMatch γ鎖欠損によるT-B+重症複合免疫不全症 T-B+ severe combined immunodeficiency due to gamma chain deficiency https://monarchinitiative.org/MONDO:0010315 NANDO:2200704 http://nanbyodata.jp/ontology/NANDO_2200704 MONDO:0010518 http://www.w3.org/2004/02/skos/core#exactMatch ウィスコット・オルドリッチ症候群 Wiskott-Aldrich syndrome https://monarchinitiative.org/MONDO:0010518 NANDO:2200676 http://nanbyodata.jp/ontology/NANDO_2200676 MONDO:0010602 http://www.w3.org/2004/02/skos/core#exactMatch 血友病A hemophilia A https://monarchinitiative.org/MONDO:0010602 NANDO:2200677 http://nanbyodata.jp/ontology/NANDO_2200677 MONDO:0010604 http://www.w3.org/2004/02/skos/core#exactMatch 血友病B hemophilia B https://monarchinitiative.org/MONDO:0010604 NANDO:2200697 http://nanbyodata.jp/ontology/NANDO_2200697 MONDO:0011338 http://www.w3.org/2004/02/skos/core#exactMatch オーメン症候群 Omenn syndrome https://monarchinitiative.org/MONDO:0011338 NANDO:2200701 http://nanbyodata.jp/ontology/NANDO_2200701 MONDO:0011476 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスI欠損症 MHC class I deficiency https://monarchinitiative.org/MONDO:0011476 NANDO:2200660 http://nanbyodata.jp/ontology/NANDO_2200660 MONDO:0011555 http://www.w3.org/2004/02/skos/core#exactMatch 橈尺骨癒合-無巨核球性血小板減少症候群 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome https://monarchinitiative.org/MONDO:0011555 NANDO:2200699 http://nanbyodata.jp/ontology/NANDO_2200699 MONDO:0012161 http://www.w3.org/2004/02/skos/core#exactMatch CD8α鎖変異に関連する呼吸器感染に対する感受性 susceptibility to respiratory infections associated with CD8alpha chain mutation https://monarchinitiative.org/MONDO:0012161 NANDO:2200669 http://nanbyodata.jp/ontology/NANDO_2200669 MONDO:0012354 http://www.w3.org/2004/02/skos/core#exactMatch 血小板型出血性疾患8 platelet-type bleeding disorder 8 https://monarchinitiative.org/MONDO:0012354 NANDO:2200684 http://nanbyodata.jp/ontology/NANDO_2200684 MONDO:0012901 http://www.w3.org/2004/02/skos/core#exactMatch 先天性プレカリクレイン欠乏症 inherited prekallikrein deficiency https://monarchinitiative.org/MONDO:0012901 NANDO:2200698 http://nanbyodata.jp/ontology/NANDO_2200698 MONDO:0013171 http://www.w3.org/2004/02/skos/core#exactMatch プリンヌクレオシドホスホリラーゼ欠損症 purine nucleoside phosphorylase deficiency https://monarchinitiative.org/MONDO:0013171 NANDO:2200688 http://nanbyodata.jp/ontology/NANDO_2200688 MONDO:0013227 http://www.w3.org/2004/02/skos/core#exactMatch 先天性プラスミノゲンアクチベータインヒビター1欠乏症 congenital plasminogen activator inhibitor type 1 deficiency https://monarchinitiative.org/MONDO:0013227 NANDO:2200673 http://nanbyodata.jp/ontology/NANDO_2200673 MONDO:0013361 http://www.w3.org/2004/02/skos/core#exactMatch 先天性プロトロンビン欠乏症 congenital prothrombin deficiency https://monarchinitiative.org/MONDO:0013361 NANDO:2200670 http://nanbyodata.jp/ontology/NANDO_2200670 MONDO:0013623 http://www.w3.org/2004/02/skos/core#exactMatch 血小板型出血性疾患11 platelet-type bleeding disorder 11 https://monarchinitiative.org/MONDO:0013623 NANDO:2200665 http://nanbyodata.jp/ontology/NANDO_2200665 MONDO:0014078 http://www.w3.org/2004/02/skos/core#exactMatch 血小板型出血性疾患15 platelet-type bleeding disorder 15 https://monarchinitiative.org/MONDO:0014078 NANDO:2200693 http://nanbyodata.jp/ontology/NANDO_2200693 MONDO:0015909 http://www.w3.org/2004/02/skos/core#exactMatch 再生不良性貧血 aplastic anemia https://monarchinitiative.org/MONDO:0015909 NANDO:2200681 http://nanbyodata.jp/ontology/NANDO_2200681 MONDO:0018029 http://www.w3.org/2004/02/skos/core#closeMatch 先天性第XIII因子欠乏症 congenital factor XIII deficiency https://monarchinitiative.org/MONDO:0018029 NANDO:2200648 http://nanbyodata.jp/ontology/NANDO_2200648 MONDO:0018048 http://www.w3.org/2004/02/skos/core#exactMatch ヘパリン起因性血小板減少症 heparin-induced thrombocytopenia https://monarchinitiative.org/MONDO:0018048 NANDO:2200686 http://nanbyodata.jp/ontology/NANDO_2200686 MONDO:0018175 http://www.w3.org/2004/02/skos/core#exactMatch 第VおよびVIII因子複合欠乏症 combined deficiency of factor V and factor VIII https://monarchinitiative.org/MONDO:0018175 NANDO:2200649 http://nanbyodata.jp/ontology/NANDO_2200649 MONDO:0018896 http://www.w3.org/2004/02/skos/core#exactMatch 血栓性血小板減少性紫斑病 thrombotic thrombocytopenic purpura https://monarchinitiative.org/MONDO:0018896 NANDO:2200712 http://nanbyodata.jp/ontology/NANDO_2200712 MONDO:0018923 http://www.w3.org/2004/02/skos/core#closeMatch 22q11.2欠失症候群 22q11.2 deletion syndrome https://monarchinitiative.org/MONDO:0018923 NANDO:2200689 http://nanbyodata.jp/ontology/NANDO_2200689 MONDO:0019145 http://www.w3.org/2004/02/skos/core#exactMatch 先天性プロテインC欠損による遺伝性血栓形成傾向 hereditary thrombophilia due to congenital protein C deficiency https://monarchinitiative.org/MONDO:0019145 NANDO:2200652 http://nanbyodata.jp/ontology/NANDO_2200652 MONDO:0019391 http://www.w3.org/2004/02/skos/core#exactMatch ファンコニ貧血 Fanconi anemia https://monarchinitiative.org/MONDO:0019391 NANDO:2200647 http://nanbyodata.jp/ontology/NANDO_2200647 MONDO:0019415 http://www.w3.org/2004/02/skos/core#exactMatch 胎児・新生児同種免疫性血小板減少症 fetal and neonatal alloimmune thrombocytopenia https://monarchinitiative.org/MONDO:0019415 NANDO:2200662 http://nanbyodata.jp/ontology/NANDO_2200662 MONDO:0100083 http://www.w3.org/2004/02/skos/core#exactMatch 骨髄悪性腫瘍傾向を伴う家族性血小板減少症 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 https://monarchinitiative.org/MONDO:0100083 NANDO:2200644 http://nanbyodata.jp/ontology/NANDO_2200644 MONDO:0001115 http://www.w3.org/2004/02/skos/core#exactMatch "" familial polycythemia https://monarchinitiative.org/MONDO:0001115 NANDO:2200681 http://nanbyodata.jp/ontology/NANDO_2200681 MONDO:0002241 http://www.w3.org/2004/02/skos/core#exactMatch "" factor XIII deficiency https://monarchinitiative.org/MONDO:0002241 NANDO:2200675 http://nanbyodata.jp/ontology/NANDO_2200675 MONDO:0002244 http://www.w3.org/2004/02/skos/core#exactMatch "" factor VII deficiency https://monarchinitiative.org/MONDO:0002244 NANDO:2200678 http://nanbyodata.jp/ontology/NANDO_2200678 MONDO:0002247 http://www.w3.org/2004/02/skos/core#exactMatch "" factor X deficiency https://monarchinitiative.org/MONDO:0002247 NANDO:2200690 http://nanbyodata.jp/ontology/NANDO_2200690 MONDO:0002304 http://www.w3.org/2004/02/skos/core#exactMatch "" protein S deficiency https://monarchinitiative.org/MONDO:0002304 NANDO:2200674 http://nanbyodata.jp/ontology/NANDO_2200674 MONDO:0020586 http://www.w3.org/2004/02/skos/core#exactMatch "" factor V deficiency https://monarchinitiative.org/MONDO:0020586 NANDO:2200679 http://nanbyodata.jp/ontology/NANDO_2200679 MONDO:0020587 http://www.w3.org/2004/02/skos/core#exactMatch "" factor XI deficiency https://monarchinitiative.org/MONDO:0020587 NANDO:2200682 http://nanbyodata.jp/ontology/NANDO_2200682 MONDO:0024574 http://www.w3.org/2004/02/skos/core#exactMatch "" von Willebrand disease (hereditary or acquired) https://monarchinitiative.org/MONDO:0024574 NANDO:2200684 http://nanbyodata.jp/ontology/NANDO_2200684 MONDO:0044744 http://www.w3.org/2004/02/skos/core#closeMatch "" prekallikrein deficiency https://monarchinitiative.org/MONDO:0044744 NANDO:2200692 http://nanbyodata.jp/ontology/NANDO_2200692 MONDO:0044903 http://www.w3.org/2004/02/skos/core#exactMatch "" myelofibrosis https://monarchinitiative.org/MONDO:0044903 NANDO:2200708 http://nanbyodata.jp/ontology/NANDO_2200708 MONDO:0000133 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全-動原体不安定性-顔面奇形症候群 immunodeficiency-centromeric instability-facial anomalies syndrome https://monarchinitiative.org/MONDO:0000133 NANDO:2200705 http://nanbyodata.jp/ontology/NANDO_2200705 MONDO:0008840 http://www.w3.org/2004/02/skos/core#exactMatch 毛細血管拡張性運動失調症 ataxia telangiectasia https://monarchinitiative.org/MONDO:0008840 NANDO:2200707 http://nanbyodata.jp/ontology/NANDO_2200707 MONDO:0008876 http://www.w3.org/2004/02/skos/core#exactMatch ブルーム症候群 Bloom syndrome https://monarchinitiative.org/MONDO:0008876 NANDO:2200724 http://nanbyodata.jp/ontology/NANDO_2200724 MONDO:0008963 http://www.w3.org/2004/02/skos/core#exactMatch チェディアック・東症候群 Chediak-Higashi syndrome https://monarchinitiative.org/MONDO:0008963 NANDO:2200714 http://nanbyodata.jp/ontology/NANDO_2200714 MONDO:0009338 http://www.w3.org/2004/02/skos/core#exactMatch 肝静脈閉塞症-免疫不全症候群 hepatic veno-occlusive disease-immunodeficiency syndrome https://monarchinitiative.org/MONDO:0009338 NANDO:2200711 http://nanbyodata.jp/ontology/NANDO_2200711 MONDO:0009458 http://www.w3.org/2004/02/skos/core#exactMatch シムケ免疫性骨形成不全 Schimke immuno-osseous dysplasia https://monarchinitiative.org/MONDO:0009458 NANDO:2200706 http://nanbyodata.jp/ontology/NANDO_2200706 MONDO:0009623 http://www.w3.org/2004/02/skos/core#exactMatch ナイミーヘン染色体不安定症候群 Nijmegen breakage syndrome https://monarchinitiative.org/MONDO:0009623 NANDO:2200716 http://nanbyodata.jp/ontology/NANDO_2200716 MONDO:0010421 http://www.w3.org/2004/02/skos/core#exactMatch ブルトン型無ガンマグロブリン血症 Bruton-type agammaglobulinemia https://monarchinitiative.org/MONDO:0010421 NANDO:2200725 http://nanbyodata.jp/ontology/NANDO_2200725 MONDO:0010627 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖リンパ増殖症候群 X-linked lymphoproliferative syndrome https://monarchinitiative.org/MONDO:0010627 NANDO:2200710 http://nanbyodata.jp/ontology/NANDO_2200710 MONDO:0012764 http://www.w3.org/2004/02/skos/core#exactMatch RIDDLE症候群 RIDDLE syndrome https://monarchinitiative.org/MONDO:0012764 NANDO:2200719 http://nanbyodata.jp/ontology/NANDO_2200719 MONDO:0013576 http://www.w3.org/2004/02/skos/core#exactMatch IgGサブクラス欠損症 recurrent infections associated with rare immunoglobulin isotypes deficiency https://monarchinitiative.org/MONDO:0013576 NANDO:2200717 http://nanbyodata.jp/ontology/NANDO_2200717 MONDO:0015517 http://www.w3.org/2004/02/skos/core#exactMatch 分類不能型免疫不全症 common variable immunodeficiency https://monarchinitiative.org/MONDO:0015517 NANDO:2200722 http://nanbyodata.jp/ontology/NANDO_2200722 MONDO:0015698 http://www.w3.org/2004/02/skos/core#exactMatch 乳児一過性低ガンマグロブリン血症 transient hypogammaglobulinemia of infancy https://monarchinitiative.org/MONDO:0015698 NANDO:2200715 http://nanbyodata.jp/ontology/NANDO_2200715 MONDO:0015780 http://www.w3.org/2004/02/skos/core#exactMatch 先天性角化異常症 dyskeratosis congenita https://monarchinitiative.org/MONDO:0015780 NANDO:2200726 http://nanbyodata.jp/ontology/NANDO_2200726 MONDO:0017979 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性リンパ増殖症候群 autoimmune lymphoproliferative syndrome https://monarchinitiative.org/MONDO:0017979 NANDO:2200713 http://nanbyodata.jp/ontology/NANDO_2200713 MONDO:0018037 http://www.w3.org/2004/02/skos/core#exactMatch 高IgE症候群 hyper-IgE syndrome https://monarchinitiative.org/MONDO:0018037 NANDO:2200720 http://nanbyodata.jp/ontology/NANDO_2200720 MONDO:0001341 http://www.w3.org/2004/02/skos/core#exactMatch "" selective IgA deficiency disease https://monarchinitiative.org/MONDO:0001341 NANDO:2200718 http://nanbyodata.jp/ontology/NANDO_2200718 MONDO:0003947 http://www.w3.org/2004/02/skos/core#exactMatch "" hyper-IgM syndrome https://monarchinitiative.org/MONDO:0003947 NANDO:2200776 http://nanbyodata.jp/ontology/NANDO_2200776 MONDO:0003832 http://www.w3.org/2004/02/skos/core#exactMatch 補体欠損症 complement deficiency https://monarchinitiative.org/MONDO:0003832 NANDO:2200795 http://nanbyodata.jp/ontology/NANDO_2200795 MONDO:0007361 http://www.w3.org/2004/02/skos/core#closeMatch C1抑制因子欠乏症 C1 inhibitor deficiency https://monarchinitiative.org/MONDO:0007361 NANDO:2200746 http://nanbyodata.jp/ontology/NANDO_2200746 MONDO:0008090 http://www.w3.org/2004/02/skos/core#exactMatch 周期性好中球減少症 cyclic hematopoiesis https://monarchinitiative.org/MONDO:0008090 NANDO:2200773 http://nanbyodata.jp/ontology/NANDO_2200773 MONDO:0008905 http://www.w3.org/2004/02/skos/core#exactMatch CARD9欠損による侵襲性真菌症に対する素因 predisposition to invasive fungal disease due to CARD9 deficiency https://monarchinitiative.org/MONDO:0008905 NANDO:2200781 http://nanbyodata.jp/ontology/NANDO_2200781 MONDO:0009006 http://www.w3.org/2004/02/skos/core#exactMatch 補体第2成分欠損症 complement component 2 deficiency https://monarchinitiative.org/MONDO:0009006 NANDO:2200768 http://nanbyodata.jp/ontology/NANDO_2200768 MONDO:0009176 http://www.w3.org/2004/02/skos/core#exactMatch 疣贅状表皮発育異常症 epidermodysplasia verruciformis https://monarchinitiative.org/MONDO:0009176 NANDO:2200738 http://nanbyodata.jp/ontology/NANDO_2200738 MONDO:0009411 http://www.w3.org/2004/02/skos/core#closeMatch 自己免疫性多内分泌腺症候群1型 autoimmune polyendocrine syndrome type 1 https://monarchinitiative.org/MONDO:0009411 NANDO:2200758 http://nanbyodata.jp/ontology/NANDO_2200758 MONDO:0009694 http://www.w3.org/2004/02/skos/core#exactMatch ミエロペルオキシダーゼ欠損症 myeloperoxidase deficiency https://monarchinitiative.org/MONDO:0009694 NANDO:2200756 http://nanbyodata.jp/ontology/NANDO_2200756 MONDO:0009833 http://www.w3.org/2004/02/skos/core#exactMatch シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome https://monarchinitiative.org/MONDO:0009833 NANDO:2200775 http://nanbyodata.jp/ontology/NANDO_2200775 MONDO:0010066 http://www.w3.org/2004/02/skos/core#exactMatch 家族性孤立性先天性無脾症 familial isolated congenital asplenia https://monarchinitiative.org/MONDO:0010066 NANDO:2200761 http://nanbyodata.jp/ontology/NANDO_2200761 MONDO:0010293 http://www.w3.org/2004/02/skos/core#exactMatch 外胚葉形成不全および免疫不全症 ectodermal dysplasia and immune deficiency https://monarchinitiative.org/MONDO:0010293 NANDO:2200753 http://nanbyodata.jp/ontology/NANDO_2200753 MONDO:0010294 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性重症先天性好中球減少症 X-linked severe congenital neutropenia https://monarchinitiative.org/MONDO:0010294 NANDO:2200751 http://nanbyodata.jp/ontology/NANDO_2200751 MONDO:0010543 http://www.w3.org/2004/02/skos/core#exactMatch バース症候群 Barth syndrome https://monarchinitiative.org/MONDO:0010543 NANDO:2200789 http://nanbyodata.jp/ontology/NANDO_2200789 MONDO:0010713 http://www.w3.org/2004/02/skos/core#exactMatch プロペルジン欠損症, X連鎖性 properdin deficiency, X-linked https://monarchinitiative.org/MONDO:0010713 NANDO:2200730 http://nanbyodata.jp/ontology/NANDO_2200730 MONDO:0011336 http://www.w3.org/2004/02/skos/core#exactMatch 家族性血球貪食性リンパ組織球症4 familial hemophagocytic lymphohistiocytosis 4 https://monarchinitiative.org/MONDO:0011336 NANDO:2200728 http://nanbyodata.jp/ontology/NANDO_2200728 MONDO:0011337 http://www.w3.org/2004/02/skos/core#exactMatch 家族性血球貪食性リンパ組織球症2 familial hemophagocytic lymphohistiocytosis 2 https://monarchinitiative.org/MONDO:0011337 NANDO:2200749 http://nanbyodata.jp/ontology/NANDO_2200749 MONDO:0011405 http://www.w3.org/2004/02/skos/core#exactMatch 好中球減少症を伴う多形皮膚萎縮症 poikiloderma with neutropenia https://monarchinitiative.org/MONDO:0011405 NANDO:2200736 http://nanbyodata.jp/ontology/NANDO_2200736 MONDO:0011664 http://www.w3.org/2004/02/skos/core#exactMatch CD25欠損による免疫不全症 immunodeficiency due to CD25 deficiency https://monarchinitiative.org/MONDO:0011664 NANDO:2200740 http://nanbyodata.jp/ontology/NANDO_2200740 MONDO:0011804 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性リンパ増殖症候群2B型 autoimmune lymphoproliferative syndrome type 2B https://monarchinitiative.org/MONDO:0011804 NANDO:2200732 http://nanbyodata.jp/ontology/NANDO_2200732 MONDO:0011872 http://www.w3.org/2004/02/skos/core#exactMatch グリセリ症候群2型 Griscelli syndrome type 2 https://monarchinitiative.org/MONDO:0011872 NANDO:2200762 http://nanbyodata.jp/ontology/NANDO_2200762 MONDO:0011888 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症67 immunodeficiency 67 https://monarchinitiative.org/MONDO:0011888 NANDO:2200744 http://nanbyodata.jp/ontology/NANDO_2200744 MONDO:0011939 http://www.w3.org/2004/02/skos/core#exactMatch SPENCDI Spondyloenchondrodysplasia with immune dysregulation https://monarchinitiative.org/MONDO:0011939 NANDO:2200733 http://nanbyodata.jp/ontology/NANDO_2200733 MONDO:0011997 http://www.w3.org/2004/02/skos/core#exactMatch ヘルマンスキー・パドラック症候群2 Hermansky-Pudlak syndrome 2 https://monarchinitiative.org/MONDO:0011997 NANDO:2200729 http://nanbyodata.jp/ontology/NANDO_2200729 MONDO:0012146 http://www.w3.org/2004/02/skos/core#exactMatch 家族性血球貪食性リンパ組織球症3 familial hemophagocytic lymphohistiocytosis 3 https://monarchinitiative.org/MONDO:0012146 NANDO:2200783 http://nanbyodata.jp/ontology/NANDO_2200783 MONDO:0012295 http://www.w3.org/2004/02/skos/core#exactMatch 補体第5成分欠損症 complement component 5 deficiency https://monarchinitiative.org/MONDO:0012295 NANDO:2200791 http://nanbyodata.jp/ontology/NANDO_2200791 MONDO:0012350 http://www.w3.org/2004/02/skos/core#exactMatch H因子欠損症 complement factor H deficiency https://monarchinitiative.org/MONDO:0012350 NANDO:2200771 http://nanbyodata.jp/ontology/NANDO_2200771 MONDO:0012383 http://www.w3.org/2004/02/skos/core#exactMatch ナチュラルキラー細胞細胞欠損および副腎機能低下を伴う原発性免疫不全症 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency https://monarchinitiative.org/MONDO:0012383 NANDO:2200785 http://nanbyodata.jp/ontology/NANDO_2200785 MONDO:0012412 http://www.w3.org/2004/02/skos/core#exactMatch 補体第7成分欠損症 complement component 7 deficiency https://monarchinitiative.org/MONDO:0012412 NANDO:2200772 http://nanbyodata.jp/ontology/NANDO_2200772 MONDO:0012521 http://www.w3.org/2004/02/skos/core#exactMatch 単純ヘルペス脳炎 herpes simplex encephalitis https://monarchinitiative.org/MONDO:0012521 NANDO:2200752 http://nanbyodata.jp/ontology/NANDO_2200752 MONDO:0012559 http://www.w3.org/2004/02/skos/core#exactMatch p14欠損による原発性免疫不全症候群 primary immunodeficiency syndrome due to p14 deficiency https://monarchinitiative.org/MONDO:0012559 NANDO:2200801 http://nanbyodata.jp/ontology/NANDO_2200801 MONDO:0012584 http://www.w3.org/2004/02/skos/core#closeMatch 全身性エリテマトーデス, 感受性, 9 systemic lupus erythematosus, susceptibility to, 9 https://monarchinitiative.org/MONDO:0012584 NANDO:2200790 http://nanbyodata.jp/ontology/NANDO_2200790 MONDO:0012594 http://www.w3.org/2004/02/skos/core#exactMatch I因子欠損症 complement factor I deficiency https://monarchinitiative.org/MONDO:0012594 NANDO:2200763 http://nanbyodata.jp/ontology/NANDO_2200763 MONDO:0012839 http://www.w3.org/2004/02/skos/core#exactMatch MyD88欠損症 pyogenic bacterial infections due to MyD88 deficiency https://monarchinitiative.org/MONDO:0012839 NANDO:2200784 http://nanbyodata.jp/ontology/NANDO_2200784 MONDO:0012908 http://www.w3.org/2004/02/skos/core#exactMatch 補体第6成分欠損症 complement component 6 deficiency https://monarchinitiative.org/MONDO:0012908 NANDO:2200803 http://nanbyodata.jp/ontology/NANDO_2200803 MONDO:0013040 http://www.w3.org/2004/02/skos/core#exactMatch MCP/CD46異常を伴う非典型溶血性尿毒症症候群 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly https://monarchinitiative.org/MONDO:0013040 NANDO:2200734 http://nanbyodata.jp/ontology/NANDO_2200734 MONDO:0013081 http://www.w3.org/2004/02/skos/core#exactMatch リンパ増殖性症候群1 lymphoproliferative syndrome 1 https://monarchinitiative.org/MONDO:0013081 NANDO:2200731 http://nanbyodata.jp/ontology/NANDO_2200731 MONDO:0013135 http://www.w3.org/2004/02/skos/core#exactMatch 家族性血球貪食性リンパ組織球症5 familial hemophagocytic lymphohistiocytosis 5 https://monarchinitiative.org/MONDO:0013135 NANDO:2200739 http://nanbyodata.jp/ontology/NANDO_2200739 MONDO:0013245 http://www.w3.org/2004/02/skos/core#exactMatch ITCH欠損症 syndromic multisystem autoimmune disease due to ITCH deficiency https://monarchinitiative.org/MONDO:0013245 NANDO:2200741 http://nanbyodata.jp/ontology/NANDO_2200741 MONDO:0013408 http://www.w3.org/2004/02/skos/core#exactMatch FADD関連免疫不全症 FADD-related immunodeficiency https://monarchinitiative.org/MONDO:0013408 NANDO:2200782 http://nanbyodata.jp/ontology/NANDO_2200782 MONDO:0013417 http://www.w3.org/2004/02/skos/core#exactMatch 補体第3成分欠損症 complement component 3 deficiency https://monarchinitiative.org/MONDO:0013417 NANDO:2200779 http://nanbyodata.jp/ontology/NANDO_2200779 MONDO:0013419 http://www.w3.org/2004/02/skos/core#exactMatch 補体成分C1s欠損症 complement component C1s deficiency https://monarchinitiative.org/MONDO:0013419 NANDO:2200793 http://nanbyodata.jp/ontology/NANDO_2200793 MONDO:0013423 http://www.w3.org/2004/02/skos/core#exactMatch MASP2欠損による免疫不全症 immunodeficiency due to MASP-2 deficiency https://monarchinitiative.org/MONDO:0013423 NANDO:2200787 http://nanbyodata.jp/ontology/NANDO_2200787 MONDO:0013445 http://www.w3.org/2004/02/skos/core#exactMatch 補体第9成分欠損症 complement component 9 deficiency https://monarchinitiative.org/MONDO:0013445 NANDO:2200794 http://nanbyodata.jp/ontology/NANDO_2200794 MONDO:0013467 http://www.w3.org/2004/02/skos/core#exactMatch Ficolin3関連免疫不全症 immunodeficiency due to ficolin3 deficiency https://monarchinitiative.org/MONDO:0013467 NANDO:2200788 http://nanbyodata.jp/ontology/NANDO_2200788 MONDO:0013487 http://www.w3.org/2004/02/skos/core#exactMatch Factor D 欠損症 recurrent Neisseria infections due to factor D deficiency https://monarchinitiative.org/MONDO:0013487 NANDO:2200801 http://nanbyodata.jp/ontology/NANDO_2200801 MONDO:0013862 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症, 分類不能型, 7 immunodeficiency, common variable, 7 https://monarchinitiative.org/MONDO:0013862 NANDO:2200797 http://nanbyodata.jp/ontology/NANDO_2200797 MONDO:0014255 http://www.w3.org/2004/02/skos/core#exactMatch B因子欠損症 complement factor b deficiency https://monarchinitiative.org/MONDO:0014255 NANDO:2200766 http://nanbyodata.jp/ontology/NANDO_2200766 MONDO:0014389 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全を伴うまたは伴わないポリグルコサン小体ミオパチー1 polyglucosan body myopathy 1 with or without immunodeficiency https://monarchinitiative.org/MONDO:0014389 NANDO:2200770 http://nanbyodata.jp/ontology/NANDO_2200770 MONDO:0014715 http://www.w3.org/2004/02/skos/core#exactMatch 麻疹・ムンプス・風疹ワクチン後ウイルス感染を伴う原発性免疫不全症 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection https://monarchinitiative.org/MONDO:0014715 NANDO:2200764 http://nanbyodata.jp/ontology/NANDO_2200764 MONDO:0015279 http://www.w3.org/2004/02/skos/core#exactMatch 慢性皮膚粘膜カンジダ症 chronic mucocutaneous candidiasis https://monarchinitiative.org/MONDO:0015279 NANDO:2200805 http://nanbyodata.jp/ontology/NANDO_2200805 MONDO:0015691 http://www.w3.org/2004/02/skos/core#closeMatch 好酸球増加症 hypereosinophilic syndrome https://monarchinitiative.org/MONDO:0015691 NANDO:2200814 http://nanbyodata.jp/ontology/NANDO_2200814 MONDO:0017069 http://www.w3.org/2004/02/skos/core#closeMatch 脊髄髄膜瘤 spina bifida cystica https://monarchinitiative.org/MONDO:0017069 NANDO:2200792 http://nanbyodata.jp/ontology/NANDO_2200792 MONDO:0017398 http://www.w3.org/2004/02/skos/core#exactMatch 3MC症候群 3MC syndrome https://monarchinitiative.org/MONDO:0017398 NANDO:2200755 http://nanbyodata.jp/ontology/NANDO_2200755 MONDO:0017570 http://www.w3.org/2004/02/skos/core#exactMatch 白血球接着不全症 leukocyte adhesion deficiency https://monarchinitiative.org/MONDO:0017570 NANDO:2200757 http://nanbyodata.jp/ontology/NANDO_2200757 MONDO:0018305 http://www.w3.org/2004/02/skos/core#exactMatch 慢性肉芽腫症 chronic granulomatous disease https://monarchinitiative.org/MONDO:0018305 NANDO:2200745 http://nanbyodata.jp/ontology/NANDO_2200745 MONDO:0018542 http://www.w3.org/2004/02/skos/core#exactMatch 重症先天性好中球減少症 severe congenital neutropenia https://monarchinitiative.org/MONDO:0018542 NANDO:2200759 http://nanbyodata.jp/ontology/NANDO_2200759 MONDO:0019146 http://www.w3.org/2004/02/skos/core#exactMatch メンデル遺伝型マイコバクテリア易感染症 inherited susceptibility to mycobacterial diseases https://monarchinitiative.org/MONDO:0019146 NANDO:2200795 http://nanbyodata.jp/ontology/NANDO_2200795 MONDO:0019623 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性血管性浮腫 hereditary angioedema https://monarchinitiative.org/MONDO:0019623 NANDO:2200737 http://nanbyodata.jp/ontology/NANDO_2200737 MONDO:0100211 http://www.w3.org/2004/02/skos/core#exactMatch STAT5b欠損症 growth hormone insensitivity with immune dysregulation 1, autosomal recessive https://monarchinitiative.org/MONDO:0100211 NANDO:2200774 http://nanbyodata.jp/ontology/NANDO_2200774 MONDO:0000940 http://www.w3.org/2004/02/skos/core#exactMatch "" trypanosomiasis https://monarchinitiative.org/MONDO:0000940 NANDO:2200777 http://nanbyodata.jp/ontology/NANDO_2200777 MONDO:0013343 http://www.w3.org/2004/02/skos/core#exactMatch "" C1Q deficiency https://monarchinitiative.org/MONDO:0013343 NANDO:2200815 http://nanbyodata.jp/ontology/NANDO_2200815 MONDO:0001790 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄脂肪腫 spinal cord lipoma https://monarchinitiative.org/MONDO:0001790 NANDO:2200808 http://nanbyodata.jp/ontology/NANDO_2200808 MONDO:0009194 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症32B immunodeficiency 32B https://monarchinitiative.org/MONDO:0009194 NANDO:2200818 http://nanbyodata.jp/ontology/NANDO_2200818 MONDO:0010011 http://www.w3.org/2004/02/skos/core#exactMatch 裂脳症 schizencephaly https://monarchinitiative.org/MONDO:0010011 NANDO:2200804 http://nanbyodata.jp/ontology/NANDO_2200804 MONDO:0012858 http://www.w3.org/2004/02/skos/core#exactMatch CD59欠損症 primary CD59 deficiency https://monarchinitiative.org/MONDO:0012858 NANDO:2200806 http://nanbyodata.jp/ontology/NANDO_2200806 MONDO:0015691 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球増加症 hypereosinophilic syndrome https://monarchinitiative.org/MONDO:0015691 NANDO:2200819 http://nanbyodata.jp/ontology/NANDO_2200819 MONDO:0016296 http://www.w3.org/2004/02/skos/core#exactMatch 全前脳症 holoprosencephaly https://monarchinitiative.org/MONDO:0016296 NANDO:2200813 http://nanbyodata.jp/ontology/NANDO_2200813 MONDO:0017079 http://www.w3.org/2004/02/skos/core#exactMatch 髄膜脳瘤 meningoencephalocele https://monarchinitiative.org/MONDO:0017079 NANDO:2200807 http://nanbyodata.jp/ontology/NANDO_2200807 MONDO:0018438 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性消化管疾患 eosinophilic gastrointestinal disease https://monarchinitiative.org/MONDO:0018438 NANDO:2200817 http://nanbyodata.jp/ontology/NANDO_2200817 MONDO:0018838 http://www.w3.org/2004/02/skos/core#exactMatch 滑脳症スペクトラム障害 lissencephaly spectrum disorders https://monarchinitiative.org/MONDO:0018838 NANDO:2200814 http://nanbyodata.jp/ontology/NANDO_2200814 MONDO:0019773 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄髄膜瘤 myelomeningocele https://monarchinitiative.org/MONDO:0019773 NANDO:2200812 http://nanbyodata.jp/ontology/NANDO_2200812 MONDO:0020547 http://www.w3.org/2004/02/skos/core#exactMatch 慢性移植片対宿主病 chronic graft versus host disease https://monarchinitiative.org/MONDO:0020547 NANDO:2200816 http://nanbyodata.jp/ontology/NANDO_2200816 MONDO:0042727 http://www.w3.org/2004/02/skos/core#exactMatch 仙尾部奇形腫 sacrococcygeal teratoma https://monarchinitiative.org/MONDO:0042727 NANDO:2200810 http://nanbyodata.jp/ontology/NANDO_2200810 MONDO:0005109 http://www.w3.org/2004/02/skos/core#exactMatch "" HIV infectious disease https://monarchinitiative.org/MONDO:0005109 NANDO:2200809 http://nanbyodata.jp/ontology/NANDO_2200809 MONDO:0012268 http://www.w3.org/2004/02/skos/core#exactMatch "" AIDS https://monarchinitiative.org/MONDO:0012268 NANDO:2200862 http://nanbyodata.jp/ontology/NANDO_2200862 MONDO:0000355 http://www.w3.org/2004/02/skos/core#exactMatch ウルリッヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy https://monarchinitiative.org/MONDO:0000355 NANDO:2200842 http://nanbyodata.jp/ontology/NANDO_2200842 MONDO:0000456 http://www.w3.org/2004/02/skos/core#exactMatch 脳クレアチン欠乏症候群 cerebral creatine deficiency syndrome https://monarchinitiative.org/MONDO:0000456 NANDO:2200859 http://nanbyodata.jp/ontology/NANDO_2200859 MONDO:0001347 http://www.w3.org/2004/02/skos/core#exactMatch 顔面肩甲上腕型筋ジストロフィー facioscapulohumeral muscular dystrophy https://monarchinitiative.org/MONDO:0001347 NANDO:2200826 http://nanbyodata.jp/ontology/NANDO_2200826 MONDO:0001734 http://www.w3.org/2004/02/skos/core#exactMatch 結節性硬化症 tuberous sclerosis https://monarchinitiative.org/MONDO:0001734 NANDO:2200892 http://nanbyodata.jp/ontology/NANDO_2200892 MONDO:0005715 http://www.w3.org/2004/02/skos/core#exactMatch 先天性トキソプラズマ症 congenital toxoplasmosis https://monarchinitiative.org/MONDO:0005715 NANDO:2200844 http://nanbyodata.jp/ontology/NANDO_2200844 MONDO:0007041 http://www.w3.org/2004/02/skos/core#exactMatch アペール症候群 Apert syndrome https://monarchinitiative.org/MONDO:0007041 NANDO:2200848 http://nanbyodata.jp/ontology/NANDO_2200848 MONDO:0007042 http://www.w3.org/2004/02/skos/core#exactMatch セートレ・ヒョツェン症候群 Saethre-Chotzen syndrome https://monarchinitiative.org/MONDO:0007042 NANDO:2200851 http://nanbyodata.jp/ontology/NANDO_2200851 MONDO:0007154 http://www.w3.org/2004/02/skos/core#exactMatch 脳動静脈奇形 arteriovenous malformations of the brain https://monarchinitiative.org/MONDO:0007154 NANDO:2200828 http://nanbyodata.jp/ontology/NANDO_2200828 MONDO:0007187 http://www.w3.org/2004/02/skos/core#exactMatch 母斑性基底細胞癌症候群 nevoid basal cell carcinoma syndrome https://monarchinitiative.org/MONDO:0007187 NANDO:2200870 http://nanbyodata.jp/ontology/NANDO_2200870 MONDO:0007294 http://www.w3.org/2004/02/skos/core#exactMatch セントラルコアミオパチー central core myopathy https://monarchinitiative.org/MONDO:0007294 NANDO:2200845 http://nanbyodata.jp/ontology/NANDO_2200845 MONDO:0007405 http://www.w3.org/2004/02/skos/core#exactMatch クルーゾン症候群 Crouzon syndrome https://monarchinitiative.org/MONDO:0007405 NANDO:2200884 http://nanbyodata.jp/ontology/NANDO_2200884 MONDO:0007492 http://www.w3.org/2004/02/skos/core#exactMatch 早発型全身性四肢発症型ジストニア early-onset generalized limb-onset dystonia https://monarchinitiative.org/MONDO:0007492 NANDO:2200833 http://nanbyodata.jp/ontology/NANDO_2200833 MONDO:0008310 http://www.w3.org/2004/02/skos/core#exactMatch ハッチンソン・ギルフォード早老症候群 Hutchinson-Gilford progeria syndrome https://monarchinitiative.org/MONDO:0008310 NANDO:2200820 http://nanbyodata.jp/ontology/NANDO_2200820 MONDO:0008428 http://www.w3.org/2004/02/skos/core#exactMatch 中隔視神経形成異常症 septooptic dysplasia https://monarchinitiative.org/MONDO:0008428 NANDO:2200830 http://nanbyodata.jp/ontology/NANDO_2200830 MONDO:0008501 http://www.w3.org/2004/02/skos/core#exactMatch スタージ・ウェーバー症候群 Sturge-Weber syndrome https://monarchinitiative.org/MONDO:0008501 NANDO:2200829 http://nanbyodata.jp/ontology/NANDO_2200829 MONDO:0008667 http://www.w3.org/2004/02/skos/core#exactMatch フォンヒッペル・リンダウ病 von Hippel-Lindau disease https://monarchinitiative.org/MONDO:0008667 NANDO:2200835 http://nanbyodata.jp/ontology/NANDO_2200835 MONDO:0008752 http://www.w3.org/2004/02/skos/core#exactMatch アレキサンダー病 Alexander disease https://monarchinitiative.org/MONDO:0008752 NANDO:2200821 http://nanbyodata.jp/ontology/NANDO_2200821 MONDO:0009072 http://www.w3.org/2004/02/skos/core#exactMatch ダンディー・ウォーカー症候群 Dandy-Walker syndrome https://monarchinitiative.org/MONDO:0009072 NANDO:2200886 http://nanbyodata.jp/ontology/NANDO_2200886 MONDO:0009319 http://www.w3.org/2004/02/skos/core#exactMatch パントテン酸キナーゼ関連神経変性症 pantothenate kinase-associated neurodegeneration https://monarchinitiative.org/MONDO:0009319 NANDO:2200827 http://nanbyodata.jp/ontology/NANDO_2200827 MONDO:0009578 http://www.w3.org/2004/02/skos/core#exactMatch 神経皮膚メラノサイ トーシス neurocutaneous melanocytosis https://monarchinitiative.org/MONDO:0009578 NANDO:2200860 http://nanbyodata.jp/ontology/NANDO_2200860 MONDO:0009678 http://www.w3.org/2004/02/skos/core#exactMatch 筋ジストロフィー-ジストログリカノパチー(脳および眼の奇形を伴う先天性), A型, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 https://monarchinitiative.org/MONDO:0009678 NANDO:2200881 http://nanbyodata.jp/ontology/NANDO_2200881 MONDO:0009697 http://www.w3.org/2004/02/skos/core#exactMatch ラフォラ病 Lafora disease https://monarchinitiative.org/MONDO:0009697 NANDO:2200880 http://nanbyodata.jp/ontology/NANDO_2200880 MONDO:0009698 http://www.w3.org/2004/02/skos/core#exactMatch ウンフェルリヒト・ルントボルグ病 Unverricht-Lundborg syndrome https://monarchinitiative.org/MONDO:0009698 NANDO:2200868 http://nanbyodata.jp/ontology/NANDO_2200868 MONDO:0009711 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋線維不均等症 congenital fiber-type disproportion myopathy https://monarchinitiative.org/MONDO:0009711 NANDO:2200872 http://nanbyodata.jp/ontology/NANDO_2200872 MONDO:0009712 http://www.w3.org/2004/02/skos/core#exactMatch 外眼筋麻痺を伴う先天性多発コアミオパチー congenital multicore myopathy with external ophthalmoplegia https://monarchinitiative.org/MONDO:0009712 NANDO:2200876 http://nanbyodata.jp/ontology/NANDO_2200876 MONDO:0009717 http://www.w3.org/2004/02/skos/core#exactMatch シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome https://monarchinitiative.org/MONDO:0009717 NANDO:2200854 http://nanbyodata.jp/ontology/NANDO_2200854 MONDO:0009746 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性感覚・自律神経性ニューロパチー4型 hereditary sensory and autonomic neuropathy type 4 https://monarchinitiative.org/MONDO:0009746 NANDO:2200834 http://nanbyodata.jp/ontology/NANDO_2200834 MONDO:0010079 http://www.w3.org/2004/02/skos/core#exactMatch カドミウム中毒 Canavan disease https://monarchinitiative.org/MONDO:0010079 NANDO:2200831 http://nanbyodata.jp/ontology/NANDO_2200831 MONDO:0010196 http://www.w3.org/2004/02/skos/core#exactMatch ウェルナー症候群 Werner syndrome https://monarchinitiative.org/MONDO:0010196 NANDO:2200865 http://nanbyodata.jp/ontology/NANDO_2200865 MONDO:0010311 http://www.w3.org/2004/02/skos/core#exactMatch ベッカー型筋ジストロフィー Becker muscular dystrophy https://monarchinitiative.org/MONDO:0010311 NANDO:2200840 http://nanbyodata.jp/ontology/NANDO_2200840 MONDO:0010383 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱X症候群 fragile X syndrome https://monarchinitiative.org/MONDO:0010383 NANDO:2200839 http://nanbyodata.jp/ontology/NANDO_2200839 MONDO:0010519 http://www.w3.org/2004/02/skos/core#exactMatch αサラセミア-X連鎖性知的障害症候群 alpha thalassemia-X-linked intellectual disability syndrome https://monarchinitiative.org/MONDO:0010519 NANDO:2200856 http://nanbyodata.jp/ontology/NANDO_2200856 MONDO:0010679 http://www.w3.org/2004/02/skos/core#exactMatch デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy https://monarchinitiative.org/MONDO:0010679 NANDO:2200825 http://nanbyodata.jp/ontology/NANDO_2200825 MONDO:0010726 http://www.w3.org/2004/02/skos/core#exactMatch レット症候群 Rett syndrome https://monarchinitiative.org/MONDO:0010726 NANDO:2200823 http://nanbyodata.jp/ontology/NANDO_2200823 MONDO:0011240 http://www.w3.org/2004/02/skos/core#exactMatch 巨脳症-毛細血管奇形症候群 megalencephaly-capillary malformation-polymicrogyria syndrome https://monarchinitiative.org/MONDO:0011240 NANDO:2200837 http://nanbyodata.jp/ontology/NANDO_2200837 MONDO:0011391 http://www.w3.org/2004/02/skos/core#exactMatch 皮質下嚢胞を伴う巨脳性白質脳症 megalencephalic leukoencephalopathy with subcortical cysts https://monarchinitiative.org/MONDO:0011391 NANDO:2200861 http://nanbyodata.jp/ontology/NANDO_2200861 MONDO:0011925 http://www.w3.org/2004/02/skos/core#exactMatch 先天性メロシン欠損型筋ジストロフィー1A congenital merosin-deficient muscular dystrophy 1A https://monarchinitiative.org/MONDO:0011925 NANDO:2200894 http://nanbyodata.jp/ontology/NANDO_2200894 MONDO:0012429 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群2 Aicardi-Goutieres syndrome 2 https://monarchinitiative.org/MONDO:0012429 NANDO:2200895 http://nanbyodata.jp/ontology/NANDO_2200895 MONDO:0012471 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群3 Aicardi-Goutieres syndrome 3 https://monarchinitiative.org/MONDO:0012471 NANDO:2200897 http://nanbyodata.jp/ontology/NANDO_2200897 MONDO:0013059 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群5 Aicardi-Goutieres syndrome 5 https://monarchinitiative.org/MONDO:0013059 NANDO:2200866 http://nanbyodata.jp/ontology/NANDO_2200866 MONDO:0013178 http://www.w3.org/2004/02/skos/core#exactMatch LMNA遺伝子変異による先天性筋ジストロフィー congenital muscular dystrophy due to LMNA mutation https://monarchinitiative.org/MONDO:0013178 NANDO:2200898 http://nanbyodata.jp/ontology/NANDO_2200898 MONDO:0014007 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群6 Aicardi-Goutieres syndrome 6 https://monarchinitiative.org/MONDO:0014007 NANDO:2200843 http://nanbyodata.jp/ontology/NANDO_2200843 MONDO:0015337 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性頭蓋骨縫合早期癒合症 isolated craniosynostosis https://monarchinitiative.org/MONDO:0015337 NANDO:2200824 http://nanbyodata.jp/ontology/NANDO_2200824 MONDO:0015369 http://www.w3.org/2004/02/skos/core#exactMatch ジュベール症候群および関連疾患 Joubert syndrome and related disorders https://monarchinitiative.org/MONDO:0015369 NANDO:2200888 http://nanbyodata.jp/ontology/NANDO_2200888 MONDO:0015518 http://www.w3.org/2004/02/skos/core#exactMatch 乳児両側線条体壊死 infantile bilateral striatal necrosis https://monarchinitiative.org/MONDO:0015518 NANDO:2200855 http://nanbyodata.jp/ontology/NANDO_2200855 MONDO:0015626 http://www.w3.org/2004/02/skos/core#closeMatch シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease https://monarchinitiative.org/MONDO:0015626 NANDO:2200832 http://nanbyodata.jp/ontology/NANDO_2200832 MONDO:0016006 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群 Cockayne syndrome https://monarchinitiative.org/MONDO:0016006 NANDO:2200864 http://nanbyodata.jp/ontology/NANDO_2200864 MONDO:0016107 http://www.w3.org/2004/02/skos/core#exactMatch 筋強直性ジストロフィー myotonic dystrophy https://monarchinitiative.org/MONDO:0016107 NANDO:2200883 http://nanbyodata.jp/ontology/NANDO_2200883 MONDO:0016241 http://www.w3.org/2004/02/skos/core#exactMatch 小児交互性片麻痺 alternating hemiplegia of childhood https://monarchinitiative.org/MONDO:0016241 NANDO:2200822 http://nanbyodata.jp/ontology/NANDO_2200822 MONDO:0016349 http://www.w3.org/2004/02/skos/core#exactMatch 先天性水頭症 congenital hydrocephalus https://monarchinitiative.org/MONDO:0016349 NANDO:2200879 http://nanbyodata.jp/ontology/NANDO_2200879 MONDO:0016532 http://www.w3.org/2004/02/skos/core#exactMatch レノックス・ガストー症候群 Lennox-Gastaut syndrome https://monarchinitiative.org/MONDO:0016532 NANDO:2200885 http://nanbyodata.jp/ontology/NANDO_2200885 MONDO:0016812 http://www.w3.org/2004/02/skos/core#exactMatch ドーパ反応性ジストニア dopa-responsive dystonia https://monarchinitiative.org/MONDO:0016812 NANDO:2200850 http://nanbyodata.jp/ontology/NANDO_2200850 MONDO:0016820 http://www.w3.org/2004/02/skos/core#exactMatch もやもや病 Moyamoya disease https://monarchinitiative.org/MONDO:0016820 NANDO:2200857 http://nanbyodata.jp/ontology/NANDO_2200857 MONDO:0016830 http://www.w3.org/2004/02/skos/core#exactMatch エメリー・ドレイフス型筋ジストロフィー Emery-Dreifuss muscular dystrophy https://monarchinitiative.org/MONDO:0016830 NANDO:2200858 http://nanbyodata.jp/ontology/NANDO_2200858 MONDO:0016971 http://www.w3.org/2004/02/skos/core#exactMatch 肢帯型筋ジストロフィー limb-girdle muscular dystrophy https://monarchinitiative.org/MONDO:0016971 NANDO:2200890 http://nanbyodata.jp/ontology/NANDO_2200890 MONDO:0017361 http://www.w3.org/2004/02/skos/core#exactMatch 先天性風疹症候群 congenital rubella syndrome https://monarchinitiative.org/MONDO:0017361 NANDO:2200889 http://nanbyodata.jp/ontology/NANDO_2200889 MONDO:0017381 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ヘルペスウイルス感染症 congenital herpes simplex virus infection https://monarchinitiative.org/MONDO:0017381 NANDO:2200891 http://nanbyodata.jp/ontology/NANDO_2200891 MONDO:0017409 http://www.w3.org/2004/02/skos/core#exactMatch 先天性サイトメガロウイルス感染症 fetal cytomegalovirus syndrome https://monarchinitiative.org/MONDO:0017409 NANDO:2200878 http://nanbyodata.jp/ontology/NANDO_2200878 MONDO:0018097 http://www.w3.org/2004/02/skos/core#exactMatch ウエスト症候群 West syndrome https://monarchinitiative.org/MONDO:0018097 NANDO:2200893 http://nanbyodata.jp/ontology/NANDO_2200893 MONDO:0018866 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群 Aicardi-Goutieres syndrome https://monarchinitiative.org/MONDO:0018866 NANDO:2200867 http://nanbyodata.jp/ontology/NANDO_2200867 MONDO:0018947 http://www.w3.org/2004/02/skos/core#closeMatch 中心核ミオパチー centronuclear myopathy https://monarchinitiative.org/MONDO:0018947 NANDO:2200871 http://nanbyodata.jp/ontology/NANDO_2200871 MONDO:0018948 http://www.w3.org/2004/02/skos/core#exactMatch ミニコア病 multiminicore myopathy https://monarchinitiative.org/MONDO:0018948 NANDO:2200869 http://nanbyodata.jp/ontology/NANDO_2200869 MONDO:0018958 http://www.w3.org/2004/02/skos/core#exactMatch ネマリンミオパチー nemaline myopathy https://monarchinitiative.org/MONDO:0018958 NANDO:2200847 http://nanbyodata.jp/ontology/NANDO_2200847 MONDO:0019012 http://www.w3.org/2004/02/skos/core#exactMatch カーペンター症候群 Carpenter syndrome https://monarchinitiative.org/MONDO:0019012 NANDO:2200836 http://nanbyodata.jp/ontology/NANDO_2200836 MONDO:0019046 http://www.w3.org/2004/02/skos/core#exactMatch 先天性大脳白質形成不全症 leukodystrophy https://monarchinitiative.org/MONDO:0019046 NANDO:2200875 http://nanbyodata.jp/ontology/NANDO_2200875 MONDO:0019948 http://www.w3.org/2004/02/skos/core#exactMatch 還元小体ミオパチー reducing body myopathy https://monarchinitiative.org/MONDO:0019948 NANDO:2200853 http://nanbyodata.jp/ontology/NANDO_2200853 MONDO:0001516 http://www.w3.org/2004/02/skos/core#exactMatch "" spinal muscular atrophy https://monarchinitiative.org/MONDO:0001516 NANDO:2200852 http://nanbyodata.jp/ontology/NANDO_2200852 MONDO:0002327 http://www.w3.org/2004/02/skos/core#exactMatch "" intracranial cavernous angioma https://monarchinitiative.org/MONDO:0002327 NANDO:2200867 http://nanbyodata.jp/ontology/NANDO_2200867 MONDO:0002921 http://www.w3.org/2004/02/skos/core#closeMatch "" congenital structural myopathy https://monarchinitiative.org/MONDO:0002921 NANDO:2200855 http://nanbyodata.jp/ontology/NANDO_2200855 MONDO:0015358 http://www.w3.org/2004/02/skos/core#exactMatch "" hereditary motor and sensory neuropathy https://monarchinitiative.org/MONDO:0015358 NANDO:2200841 http://nanbyodata.jp/ontology/NANDO_2200841 MONDO:0024321 http://www.w3.org/2004/02/skos/core#exactMatch "" disorder of GPI anchor biosynthesis https://monarchinitiative.org/MONDO:0024321 NANDO:2200877 http://nanbyodata.jp/ontology/NANDO_2200877 MONDO:0100135 http://www.w3.org/2004/02/skos/core#exactMatch "" Dravet syndrome https://monarchinitiative.org/MONDO:0100135 NANDO:2200905 http://nanbyodata.jp/ontology/NANDO_2200905 MONDO:0006702 http://www.w3.org/2004/02/skos/core#exactMatch 慢性炎症性脱髄性多発根ニューロパチー chronic inflammatory demyelinating polyradiculoneuropathy https://monarchinitiative.org/MONDO:0006702 NANDO:2200976 http://nanbyodata.jp/ontology/NANDO_2200976 MONDO:0007043 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群 Pfeiffer syndrome https://monarchinitiative.org/MONDO:0007043 NANDO:2200960 http://nanbyodata.jp/ontology/NANDO_2200960 MONDO:0007113 http://www.w3.org/2004/02/skos/core#exactMatch アンジェルマン症候群 Angelman syndrome https://monarchinitiative.org/MONDO:0007113 NANDO:2200931 http://nanbyodata.jp/ontology/NANDO_2200931 MONDO:0007318 http://www.w3.org/2004/02/skos/core#exactMatch アラジール症候群 Alagille syndrome https://monarchinitiative.org/MONDO:0007318 NANDO:2200961 http://nanbyodata.jp/ontology/NANDO_2200961 MONDO:0007404 http://www.w3.org/2004/02/skos/core#exactMatch ネコ鳴き症候群 Cri-du-chat syndrome https://monarchinitiative.org/MONDO:0007404 NANDO:2200959 http://nanbyodata.jp/ontology/NANDO_2200959 MONDO:0007534 http://www.w3.org/2004/02/skos/core#exactMatch ベックウィズ・ヴィーデマン症候群 Beckwith-Wiedemann syndrome https://monarchinitiative.org/MONDO:0007534 NANDO:2200970 http://nanbyodata.jp/ontology/NANDO_2200970 MONDO:0007542 http://www.w3.org/2004/02/skos/core#exactMatch カムラティ・エンゲルマン症候群 Camurati-Engelmann disease https://monarchinitiative.org/MONDO:0007542 NANDO:2200905 http://nanbyodata.jp/ontology/NANDO_2200905 MONDO:0007691 http://www.w3.org/2004/02/skos/core#closeMatch ギラン・バレー症候群, 家族性 Guillain-Barre syndrome, familial https://monarchinitiative.org/MONDO:0007691 NANDO:2200968 http://nanbyodata.jp/ontology/NANDO_2200968 MONDO:0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome https://monarchinitiative.org/MONDO:0007947 NANDO:2200942 http://nanbyodata.jp/ontology/NANDO_2200942 MONDO:0008185 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性慢性膵炎 hereditary chronic pancreatitis https://monarchinitiative.org/MONDO:0008185 NANDO:2200917 http://nanbyodata.jp/ontology/NANDO_2200917 MONDO:0008280 http://www.w3.org/2004/02/skos/core#exactMatch ポイツ・ジェガース症候群 Peutz-Jeghers syndrome https://monarchinitiative.org/MONDO:0008280 NANDO:2200954 http://nanbyodata.jp/ontology/NANDO_2200954 MONDO:0008434 http://www.w3.org/2004/02/skos/core#exactMatch スミス・マゲニス症候群 Smith-Magenis syndrome https://monarchinitiative.org/MONDO:0008434 NANDO:2200965 http://nanbyodata.jp/ontology/NANDO_2200965 MONDO:0008608 http://www.w3.org/2004/02/skos/core#exactMatch ダウン症候群 Down syndrome https://monarchinitiative.org/MONDO:0008608 NANDO:2200962 http://nanbyodata.jp/ontology/NANDO_2200962 MONDO:0008684 http://www.w3.org/2004/02/skos/core#exactMatch ウォルフ・ヒルシュホーン症候群 Wolf-Hirschhorn syndrome https://monarchinitiative.org/MONDO:0008684 NANDO:2200948 http://nanbyodata.jp/ontology/NANDO_2200948 MONDO:0008738 http://www.w3.org/2004/02/skos/core#closeMatch 神経節細胞欠損症, 全腸管 aganglionosis, total intestinal https://monarchinitiative.org/MONDO:0008738 NANDO:2200975 http://nanbyodata.jp/ontology/NANDO_2200975 MONDO:0008803 http://www.w3.org/2004/02/skos/core#exactMatch アントレー・ビクスラー症候群 Antley-Bixler syndrome https://monarchinitiative.org/MONDO:0008803 NANDO:2200930 http://nanbyodata.jp/ontology/NANDO_2200930 MONDO:0008867 http://www.w3.org/2004/02/skos/core#exactMatch 胆道閉鎖症 biliary atresia https://monarchinitiative.org/MONDO:0008867 NANDO:2200972 http://nanbyodata.jp/ontology/NANDO_2200972 MONDO:0008965 http://www.w3.org/2004/02/skos/core#exactMatch CHARGE症候群 CHARGE syndrome https://monarchinitiative.org/MONDO:0008965 NANDO:2200971 http://nanbyodata.jp/ontology/NANDO_2200971 MONDO:0009026 http://www.w3.org/2004/02/skos/core#exactMatch コステロ症候群 Costello syndrome https://monarchinitiative.org/MONDO:0009026 NANDO:2200941 http://nanbyodata.jp/ontology/NANDO_2200941 MONDO:0009044 http://www.w3.org/2004/02/skos/core#exactMatch クリグラー・ナジャー症候群 Crigler-Najjar syndrome https://monarchinitiative.org/MONDO:0009044 NANDO:2200908 http://nanbyodata.jp/ontology/NANDO_2200908 MONDO:0009114 http://www.w3.org/2004/02/skos/core#exactMatch ショ糖イソ麦芽糖分解酵素欠損症 congenital sucrase-isomaltase deficiency https://monarchinitiative.org/MONDO:0009114 NANDO:2200910 http://nanbyodata.jp/ontology/NANDO_2200910 MONDO:0009173 http://www.w3.org/2004/02/skos/core#exactMatch エンテロキナーゼ欠損症による先天性腸疾患 congenital enteropathy due to enteropeptidase deficiency https://monarchinitiative.org/MONDO:0009173 NANDO:2200927 http://nanbyodata.jp/ontology/NANDO_2200927 MONDO:0009275 http://www.w3.org/2004/02/skos/core#exactMatch 新生児ヘモクロマトーシス neonatal hemochromatosis https://monarchinitiative.org/MONDO:0009275 NANDO:2200973 http://nanbyodata.jp/ontology/NANDO_2200973 MONDO:0009318 http://www.w3.org/2004/02/skos/core#exactMatch Hallermann-Streiff症候群 Hallermann-Streiff syndrome https://monarchinitiative.org/MONDO:0009318 NANDO:2200913 http://nanbyodata.jp/ontology/NANDO_2200913 MONDO:0009635 http://www.w3.org/2004/02/skos/core#exactMatch 微絨毛封入体病 microvillus inclusion disease https://monarchinitiative.org/MONDO:0009635 NANDO:2200906 http://nanbyodata.jp/ontology/NANDO_2200906 MONDO:0009688 http://www.w3.org/2004/02/skos/core#exactMatch 重症筋無力症 myasthenia gravis https://monarchinitiative.org/MONDO:0009688 NANDO:2200950 http://nanbyodata.jp/ontology/NANDO_2200950 MONDO:0009774 http://www.w3.org/2004/02/skos/core#closeMatch 総排泄腔外反症 cloacal exstrophy https://monarchinitiative.org/MONDO:0009774 NANDO:2200951 http://nanbyodata.jp/ontology/NANDO_2200951 MONDO:0009774 http://www.w3.org/2004/02/skos/core#exactMatch 総排泄腔外反症 cloacal exstrophy https://monarchinitiative.org/MONDO:0009774 NANDO:2200899 http://nanbyodata.jp/ontology/NANDO_2200899 MONDO:0009835 http://www.w3.org/2004/02/skos/core#exactMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis https://monarchinitiative.org/MONDO:0009835 NANDO:2200957 http://nanbyodata.jp/ontology/NANDO_2200957 MONDO:0010193 http://www.w3.org/2004/02/skos/core#exactMatch ウィーバー症候群 Weaver syndrome https://monarchinitiative.org/MONDO:0010193 NANDO:2200952 http://nanbyodata.jp/ontology/NANDO_2200952 MONDO:0010561 http://www.w3.org/2004/02/skos/core#exactMatch コフィン・ローリー症候群 Coffin-Lowry syndrome https://monarchinitiative.org/MONDO:0010561 NANDO:2200924 http://nanbyodata.jp/ontology/NANDO_2200924 MONDO:0010580 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖免疫調節異常・多発性内分泌障害腸症候群 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome https://monarchinitiative.org/MONDO:0010580 NANDO:2200974 http://nanbyodata.jp/ontology/NANDO_2200974 MONDO:0010631 http://www.w3.org/2004/02/skos/core#exactMatch 色素失調症 incontinentia pigmenti https://monarchinitiative.org/MONDO:0010631 NANDO:2200919 http://nanbyodata.jp/ontology/NANDO_2200919 MONDO:0010778 http://www.w3.org/2004/02/skos/core#exactMatch 周期性嘔吐症候群 cyclic vomiting syndrome https://monarchinitiative.org/MONDO:0010778 NANDO:2200934 http://nanbyodata.jp/ontology/NANDO_2200934 MONDO:0010913 http://www.w3.org/2004/02/skos/core#closeMatch 先天性多発肝内胆管拡張症 Caroli disease https://monarchinitiative.org/MONDO:0010913 NANDO:2200909 http://nanbyodata.jp/ontology/NANDO_2200909 MONDO:0011731 http://www.w3.org/2004/02/skos/core#exactMatch グルコース・ガラクトース吸収不良症 glucose-galactose malabsorption https://monarchinitiative.org/MONDO:0011731 NANDO:2200929 http://nanbyodata.jp/ontology/NANDO_2200929 MONDO:0013433 http://www.w3.org/2004/02/skos/core#exactMatch 原発性硬化性胆管炎 primary sclerosing cholangitis https://monarchinitiative.org/MONDO:0013433 NANDO:2200912 http://nanbyodata.jp/ontology/NANDO_2200912 MONDO:0013700 http://www.w3.org/2004/02/skos/core#exactMatch リパーゼ欠損症 pancreatic triacylglycerol lipase deficiency https://monarchinitiative.org/MONDO:0013700 NANDO:2200911 http://nanbyodata.jp/ontology/NANDO_2200911 MONDO:0015169 http://www.w3.org/2004/02/skos/core#exactMatch アミラーゼ欠損症 chronic diarrhea due to glucoamylase deficiency https://monarchinitiative.org/MONDO:0015169 NANDO:2200943 http://nanbyodata.jp/ontology/NANDO_2200943 MONDO:0015175 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性膵炎 autoimmune pancreatitis https://monarchinitiative.org/MONDO:0015175 NANDO:2200944 http://nanbyodata.jp/ontology/NANDO_2200944 MONDO:0015183 http://www.w3.org/2004/02/skos/core#exactMatch 短腸症 short bowel syndrome https://monarchinitiative.org/MONDO:0015183 NANDO:2200967 http://nanbyodata.jp/ontology/NANDO_2200967 MONDO:0015280 http://www.w3.org/2004/02/skos/core#exactMatch 心顔面皮膚症候群 cardiofaciocutaneous syndrome https://monarchinitiative.org/MONDO:0015280 NANDO:2200977 http://nanbyodata.jp/ontology/NANDO_2200977 MONDO:0015452 http://www.w3.org/2004/02/skos/core#exactMatch コフィン・シリス症候群 Coffin-Siris syndrome https://monarchinitiative.org/MONDO:0015452 NANDO:2200903 http://nanbyodata.jp/ontology/NANDO_2200903 MONDO:0015584 http://www.w3.org/2004/02/skos/core#exactMatch 難治頻回部分発作重積型急性脳炎 febrile infection-related epilepsy syndrome https://monarchinitiative.org/MONDO:0015584 NANDO:2200933 http://nanbyodata.jp/ontology/NANDO_2200933 MONDO:0015762 http://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞 progressive familial intrahepatic cholestasis https://monarchinitiative.org/MONDO:0015762 NANDO:2200900 http://nanbyodata.jp/ontology/NANDO_2200900 MONDO:0016019 http://www.w3.org/2004/02/skos/core#exactMatch ラスムッセン脳炎 Rasmussen subacute encephalitis https://monarchinitiative.org/MONDO:0016019 NANDO:2200958 http://nanbyodata.jp/ontology/NANDO_2200958 MONDO:0016033 http://www.w3.org/2004/02/skos/core#exactMatch コルネリア・デランゲ症候群 Cornelia de Lange syndrome https://monarchinitiative.org/MONDO:0016033 NANDO:2200918 http://nanbyodata.jp/ontology/NANDO_2200918 MONDO:0016063 http://www.w3.org/2004/02/skos/core#exactMatch カウデン病 Cowden disease https://monarchinitiative.org/MONDO:0016063 NANDO:2200928 http://nanbyodata.jp/ontology/NANDO_2200928 MONDO:0016264 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性肝炎 autoimmune hepatitis https://monarchinitiative.org/MONDO:0016264 NANDO:2200956 http://nanbyodata.jp/ontology/NANDO_2200956 MONDO:0016512 http://www.w3.org/2004/02/skos/core#exactMatch 歌舞伎症候群 Kabuki syndrome https://monarchinitiative.org/MONDO:0016512 NANDO:2200916 http://nanbyodata.jp/ontology/NANDO_2200916 MONDO:0017380 http://www.w3.org/2004/02/skos/core#exactMatch 若年性ポリポーシス juvenile polyposis syndrome https://monarchinitiative.org/MONDO:0017380 NANDO:2200946 http://nanbyodata.jp/ontology/NANDO_2200946 MONDO:0017574 http://www.w3.org/2004/02/skos/core#exactMatch 慢性偽性腸閉塞 chronic intestinal pseudoobstruction https://monarchinitiative.org/MONDO:0017574 NANDO:2200964 http://nanbyodata.jp/ontology/NANDO_2200964 MONDO:0018068 http://www.w3.org/2004/02/skos/core#exactMatch 13トリソミー trisomy 13 https://monarchinitiative.org/MONDO:0018068 NANDO:2200963 http://nanbyodata.jp/ontology/NANDO_2200963 MONDO:0018071 http://www.w3.org/2004/02/skos/core#exactMatch 18トリソミー症候群 trisomy 18 https://monarchinitiative.org/MONDO:0018071 NANDO:2200914 http://nanbyodata.jp/ontology/NANDO_2200914 MONDO:0018178 http://www.w3.org/2004/02/skos/core#exactMatch 腸リンパ管拡張症 intestinal lymphangiectasia https://monarchinitiative.org/MONDO:0018178 NANDO:2200901 http://nanbyodata.jp/ontology/NANDO_2200901 MONDO:0018198 http://www.w3.org/2004/02/skos/core#exactMatch 痙攣重積型(二相性)急性脳症 acute encephalopathy with biphasic seizures and late reduced diffusion https://monarchinitiative.org/MONDO:0018198 NANDO:2200948 http://nanbyodata.jp/ontology/NANDO_2200948 MONDO:0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2200945 http://nanbyodata.jp/ontology/NANDO_2200945 MONDO:0018309 http://www.w3.org/2004/02/skos/core#exactMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2200929 http://nanbyodata.jp/ontology/NANDO_2200929 MONDO:0018646 http://www.w3.org/2004/02/skos/core#closeMatch 原発性硬化性胆管炎 sclerosing cholangitis https://monarchinitiative.org/MONDO:0018646 NANDO:2200925 http://nanbyodata.jp/ontology/NANDO_2200925 MONDO:0018766 http://www.w3.org/2004/02/skos/core#exactMatch 非特異性多発性小腸潰瘍症 chronic enteropathy associated with SLCO2A1 gene https://monarchinitiative.org/MONDO:0018766 NANDO:2200934 http://nanbyodata.jp/ontology/NANDO_2200934 MONDO:0018808 http://www.w3.org/2004/02/skos/core#exactMatch 先天性多発肝内胆管拡張症 Caroli syndrome https://monarchinitiative.org/MONDO:0018808 NANDO:2200936 http://nanbyodata.jp/ontology/NANDO_2200936 MONDO:0018840 http://www.w3.org/2004/02/skos/core#exactMatch 先天性肝線維症 isolated congenital hepatic fibrosis https://monarchinitiative.org/MONDO:0018840 NANDO:2200969 http://nanbyodata.jp/ontology/NANDO_2200969 MONDO:0018954 http://www.w3.org/2004/02/skos/core#exactMatch ロイス・ディーツ症候群 Loeys-Dietz syndrome https://monarchinitiative.org/MONDO:0018954 NANDO:2200955 http://nanbyodata.jp/ontology/NANDO_2200955 MONDO:0019188 http://www.w3.org/2004/02/skos/core#exactMatch ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome https://monarchinitiative.org/MONDO:0019188 NANDO:2200953 http://nanbyodata.jp/ontology/NANDO_2200953 MONDO:0019349 http://www.w3.org/2004/02/skos/core#exactMatch ソトス症候群 Sotos syndrome https://monarchinitiative.org/MONDO:0019349 NANDO:2200923 http://nanbyodata.jp/ontology/NANDO_2200923 MONDO:0019787 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性腸症 autoimmune enteropathy https://monarchinitiative.org/MONDO:0019787 NANDO:2200902 http://nanbyodata.jp/ontology/NANDO_2200902 MONDO:0020640 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫介在性脳炎・脳症 autoimmune encephalitis https://monarchinitiative.org/MONDO:0020640 NANDO:2200915 http://nanbyodata.jp/ontology/NANDO_2200915 MONDO:0021055 http://www.w3.org/2004/02/skos/core#exactMatch 古典的家族性腺腫性ポリポーシス classic familial adenomatous polyposis https://monarchinitiative.org/MONDO:0021055 NANDO:2200921 http://nanbyodata.jp/ontology/NANDO_2200921 MONDO:0005011 http://www.w3.org/2004/02/skos/core#exactMatch "" Crohn disease https://monarchinitiative.org/MONDO:0005011 NANDO:2200938 http://nanbyodata.jp/ontology/NANDO_2200938 MONDO:0005080 http://www.w3.org/2004/02/skos/core#exactMatch "" portal hypertension https://monarchinitiative.org/MONDO:0005080 NANDO:2200920 http://nanbyodata.jp/ontology/NANDO_2200920 MONDO:0005101 http://www.w3.org/2004/02/skos/core#exactMatch "" ulcerative colitis https://monarchinitiative.org/MONDO:0005101 NANDO:2200937 http://nanbyodata.jp/ontology/NANDO_2200937 MONDO:0005155 http://www.w3.org/2004/02/skos/core#exactMatch "" cirrhosis of liver https://monarchinitiative.org/MONDO:0005155 NANDO:2200904 http://nanbyodata.jp/ontology/NANDO_2200904 MONDO:0005301 http://www.w3.org/2004/02/skos/core#exactMatch "" multiple sclerosis https://monarchinitiative.org/MONDO:0005301 NANDO:2200976 http://nanbyodata.jp/ontology/NANDO_2200976 MONDO:0005810 http://www.w3.org/2004/02/skos/core#closeMatch "" infectious mononucleosis https://monarchinitiative.org/MONDO:0005810 NANDO:2201042 http://nanbyodata.jp/ontology/NANDO_2201042 MONDO:0005045 http://www.w3.org/2004/02/skos/core#closeMatch 肥大型心筋症 hypertrophic cardiomyopathy https://monarchinitiative.org/MONDO:0005045 NANDO:2201014 http://nanbyodata.jp/ontology/NANDO_2201014 MONDO:0005508 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性多発性骨軟骨腫 hereditary multiple osteochondromas https://monarchinitiative.org/MONDO:0005508 NANDO:2200980 http://nanbyodata.jp/ontology/NANDO_2200980 MONDO:0008006 http://www.w3.org/2004/02/skos/core#exactMatch メビウス症候群 Mobius syndrome https://monarchinitiative.org/MONDO:0008006 NANDO:2200983 http://nanbyodata.jp/ontology/NANDO_2200983 MONDO:0008642 http://www.w3.org/2004/02/skos/core#exactMatch VATER/VATER連合 VACTERL/vater association https://monarchinitiative.org/MONDO:0008642 NANDO:2200981 http://nanbyodata.jp/ontology/NANDO_2200981 MONDO:0009341 http://www.w3.org/2004/02/skos/core#exactMatch モワット・ウィルソン症候群 Mowat-Wilson syndrome https://monarchinitiative.org/MONDO:0009341 NANDO:2200979 http://nanbyodata.jp/ontology/NANDO_2200979 MONDO:0010035 http://www.w3.org/2004/02/skos/core#exactMatch スミス・レムリ・オピッツ症候群 Smith-Lemli-Opitz syndrome https://monarchinitiative.org/MONDO:0010035 NANDO:2200984 http://nanbyodata.jp/ontology/NANDO_2200984 MONDO:0010283 http://www.w3.org/2004/02/skos/core#exactMatch 症候性X連鎖性知的障害Lubs型 syndromic X-linked intellectual disability Lubs type https://monarchinitiative.org/MONDO:0010283 NANDO:2200978 http://nanbyodata.jp/ontology/NANDO_2200978 MONDO:0010731 http://www.w3.org/2004/02/skos/core#exactMatch シンプソン・ゴラビ・ベーメル症候群 Simpson-Golabi-Behmel syndrome https://monarchinitiative.org/MONDO:0010731 NANDO:2200982 http://nanbyodata.jp/ontology/NANDO_2200982 MONDO:0011365 http://www.w3.org/2004/02/skos/core#exactMatch 眼瞼縮小-知的障害症候群, SBBYS型 blepharophimosis - intellectual disability syndrome, SBBYS type https://monarchinitiative.org/MONDO:0011365 NANDO:2200985 http://nanbyodata.jp/ontology/NANDO_2200985 MONDO:0014757 http://www.w3.org/2004/02/skos/core#exactMatch 巨大血小板性血小板減少症-リンパ浮腫-発達遅滞-顔面異形-屈指症候群 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome https://monarchinitiative.org/MONDO:0014757 NANDO:2200997 http://nanbyodata.jp/ontology/NANDO_2200997 MONDO:0015611 http://www.w3.org/2004/02/skos/core#closeMatch ドルフマン・シャナリン症候群 neutral lipid storage disease https://monarchinitiative.org/MONDO:0015611 NANDO:2201016 http://nanbyodata.jp/ontology/NANDO_2201016 MONDO:0015627 http://www.w3.org/2004/02/skos/core#closeMatch 9型コラーゲン異常による多発性骨端異形成症 multiple epiphyseal dysplasia due to collagen 9 anomaly https://monarchinitiative.org/MONDO:0015627 NANDO:2201016 http://nanbyodata.jp/ontology/NANDO_2201016 MONDO:0016068 http://www.w3.org/2004/02/skos/core#closeMatch 線維性軟骨発生症 fibrochondrogenesis https://monarchinitiative.org/MONDO:0016068 NANDO:2200987 http://nanbyodata.jp/ontology/NANDO_2200987 MONDO:0017266 http://www.w3.org/2004/02/skos/core#exactMatch ケラチン症性魚鱗癬 keratinopathic ichthyosis https://monarchinitiative.org/MONDO:0017266 NANDO:2200986 http://nanbyodata.jp/ontology/NANDO_2200986 MONDO:0018910 http://www.w3.org/2004/02/skos/core#exactMatch 眼皮膚白皮症 oculocutaneous albinism https://monarchinitiative.org/MONDO:0018910 NANDO:2200988 http://nanbyodata.jp/ontology/NANDO_2200988 MONDO:0020702 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体優性表皮融解性魚鱗癬 autosomal dominant epidermolytic ichthyosis https://monarchinitiative.org/MONDO:0020702 NANDO:2200989 http://nanbyodata.jp/ontology/NANDO_2200989 MONDO:0044742 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体劣性表皮融解性魚鱗癬 autosomal recessive epidermolytic ichthyosis https://monarchinitiative.org/MONDO:0044742 NANDO:2201020 http://nanbyodata.jp/ontology/NANDO_2201020 MONDO:0003964 http://www.w3.org/2004/02/skos/core#closeMatch "" myositis ossificans https://monarchinitiative.org/MONDO:0003964 NANDO:2201003 http://nanbyodata.jp/ontology/NANDO_2201003 MONDO:0021061 http://www.w3.org/2004/02/skos/core#closeMatch "" neurofibromatosis https://monarchinitiative.org/MONDO:0021061 NANDO:2201032 http://nanbyodata.jp/ontology/NANDO_2201032 MONDO:0002013 http://www.w3.org/2004/02/skos/core#exactMatch リンパ管腫 lymphangioma https://monarchinitiative.org/MONDO:0002013 NANDO:2201015 http://nanbyodata.jp/ontology/NANDO_2201015 MONDO:0005508 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性多発性骨軟骨腫 hereditary multiple osteochondromas https://monarchinitiative.org/MONDO:0005508 NANDO:2201009 http://nanbyodata.jp/ontology/NANDO_2201009 MONDO:0007037 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨無形成症 Achondroplasia https://monarchinitiative.org/MONDO:0007037 NANDO:2201027 http://nanbyodata.jp/ontology/NANDO_2201027 MONDO:0007203 http://www.w3.org/2004/02/skos/core#exactMatch 青色ゴムまり様母斑 blue rubber bleb nevus https://monarchinitiative.org/MONDO:0007203 NANDO:2201026 http://nanbyodata.jp/ontology/NANDO_2201026 MONDO:0007363 http://www.w3.org/2004/02/skos/core#exactMatch 先天性拘縮性クモ指症 congenital contractural arachnodactyly https://monarchinitiative.org/MONDO:0007363 NANDO:2201050 http://nanbyodata.jp/ontology/NANDO_2201050 MONDO:0007450 http://www.w3.org/2004/02/skos/core#exactMatch 神経下垂体性尿崩症 neurohypophyseal diabetes insipidus https://monarchinitiative.org/MONDO:0007450 NANDO:2201020 http://nanbyodata.jp/ontology/NANDO_2201020 MONDO:0007606 http://www.w3.org/2004/02/skos/core#exactMatch 進行性骨化性線維異形成症 fibrodysplasia ossificans progressiva https://monarchinitiative.org/MONDO:0007606 NANDO:2201035 http://nanbyodata.jp/ontology/NANDO_2201035 MONDO:0007708 http://www.w3.org/2004/02/skos/core#exactMatch カサバッハ・メリット症候群 Kasabach-Merritt syndrome https://monarchinitiative.org/MONDO:0007708 NANDO:2201010 http://nanbyodata.jp/ontology/NANDO_2201010 MONDO:0007793 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨低形成症 hypochondroplasia https://monarchinitiative.org/MONDO:0007793 NANDO:2200990 http://nanbyodata.jp/ontology/NANDO_2200990 MONDO:0007813 http://www.w3.org/2004/02/skos/core#exactMatch 表在性表皮融解性魚鱗癬 superficial epidermolytic ichthyosis https://monarchinitiative.org/MONDO:0007813 NANDO:2201030 http://nanbyodata.jp/ontology/NANDO_2201030 MONDO:0007864 http://www.w3.org/2004/02/skos/core#exactMatch 血管骨肥大症候群 angioosteohypertrophic syndrome https://monarchinitiative.org/MONDO:0007864 NANDO:2201019 http://nanbyodata.jp/ontology/NANDO_2201019 MONDO:0007875 http://www.w3.org/2004/02/skos/core#exactMatch ラーセン症候群 Larsen syndrome https://monarchinitiative.org/MONDO:0007875 NANDO:2201053 http://nanbyodata.jp/ontology/NANDO_2201053 MONDO:0008082 http://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍2B型 multiple endocrine neoplasia type 2B https://monarchinitiative.org/MONDO:0008082 NANDO:2201015 http://nanbyodata.jp/ontology/NANDO_2201015 MONDO:0008145 http://www.w3.org/2004/02/skos/core#exactMatch オリエ病 Ollier disease https://monarchinitiative.org/MONDO:0008145 NANDO:2201052 http://nanbyodata.jp/ontology/NANDO_2201052 MONDO:0008234 http://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍2A型 multiple endocrine neoplasia type 2A https://monarchinitiative.org/MONDO:0008234 NANDO:2201018 http://nanbyodata.jp/ontology/NANDO_2201018 MONDO:0008322 http://www.w3.org/2004/02/skos/core#exactMatch 偽性軟骨無形成症 pseudoachondroplasia https://monarchinitiative.org/MONDO:0008322 NANDO:2201040 http://nanbyodata.jp/ontology/NANDO_2201040 MONDO:0008888 http://www.w3.org/2004/02/skos/core#exactMatch Williams-Campbell症候群 Williams-Campbell syndrome https://monarchinitiative.org/MONDO:0008888 NANDO:2200992 http://nanbyodata.jp/ontology/NANDO_2200992 MONDO:0009443 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性先天性魚鱗癬4B autosomal recessive congenital ichthyosis 4B https://monarchinitiative.org/MONDO:0009443 NANDO:2200993 http://nanbyodata.jp/ontology/NANDO_2200993 MONDO:0009735 http://www.w3.org/2004/02/skos/core#exactMatch ネザートン症候群 Netherton syndrome https://monarchinitiative.org/MONDO:0009735 NANDO:2201023 http://nanbyodata.jp/ontology/NANDO_2201023 MONDO:0009940 http://www.w3.org/2004/02/skos/core#exactMatch 濃化異骨症 pycnodysostosis https://monarchinitiative.org/MONDO:0009940 NANDO:2200994 http://nanbyodata.jp/ontology/NANDO_2200994 MONDO:0010031 http://www.w3.org/2004/02/skos/core#exactMatch シェーグレン・ラルソン症候群 Sjogren-Larsson syndrome https://monarchinitiative.org/MONDO:0010031 NANDO:2200997 http://nanbyodata.jp/ontology/NANDO_2200997 MONDO:0010155 http://www.w3.org/2004/02/skos/core#exactMatch ドルフマン・シャナリン症候群 Dorfman-Chanarin disease https://monarchinitiative.org/MONDO:0010155 NANDO:2200998 http://nanbyodata.jp/ontology/NANDO_2200998 MONDO:0010621 http://www.w3.org/2004/02/skos/core#exactMatch CHILD症候群 CHILD syndrome https://monarchinitiative.org/MONDO:0010621 NANDO:2201066 http://nanbyodata.jp/ontology/NANDO_2201066 MONDO:0011776 http://www.w3.org/2004/02/skos/core#exactMatch 慢性乳児神経皮膚関節症候群 CINCA syndrome https://monarchinitiative.org/MONDO:0011776 NANDO:2201054 http://nanbyodata.jp/ontology/NANDO_2201054 MONDO:0015277 http://www.w3.org/2004/02/skos/core#exactMatch 家族性甲状腺髄様癌 medullary thyroid gland carcinoma https://monarchinitiative.org/MONDO:0015277 NANDO:2201033 http://nanbyodata.jp/ontology/NANDO_2201033 MONDO:0015408 http://www.w3.org/2004/02/skos/core#exactMatch びまん性リンパ管奇形 diffuse lymphatic malformation https://monarchinitiative.org/MONDO:0015408 NANDO:2201008 http://nanbyodata.jp/ontology/NANDO_2201008 MONDO:0015929 http://www.w3.org/2004/02/skos/core#exactMatch 胸郭不全症候群 thoracic malformation https://monarchinitiative.org/MONDO:0015929 NANDO:2201005 http://nanbyodata.jp/ontology/NANDO_2201005 MONDO:0016535 http://www.w3.org/2004/02/skos/core#exactMatch 無汗性外胚葉形成不全症 hypohidrotic ectodermal dysplasia https://monarchinitiative.org/MONDO:0016535 NANDO:2201004 http://nanbyodata.jp/ontology/NANDO_2201004 MONDO:0016620 http://www.w3.org/2004/02/skos/core#exactMatch 肥厚性皮膚骨膜症 primary hypertrophic osteoarthropathy https://monarchinitiative.org/MONDO:0016620 NANDO:2201047 http://nanbyodata.jp/ontology/NANDO_2201047 MONDO:0017148 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性肺動脈性肺高血圧症 heritable pulmonary arterial hypertension https://monarchinitiative.org/MONDO:0017148 NANDO:2201013 http://nanbyodata.jp/ontology/NANDO_2201013 MONDO:0017198 http://www.w3.org/2004/02/skos/core#exactMatch 大理石骨病 osteopetrosis https://monarchinitiative.org/MONDO:0017198 NANDO:2200991 http://nanbyodata.jp/ontology/NANDO_2200991 MONDO:0017265 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性先天性魚鱗癬 autosomal recessive congenital ichthyosis https://monarchinitiative.org/MONDO:0017265 NANDO:2201006 http://nanbyodata.jp/ontology/NANDO_2201006 MONDO:0018229 http://www.w3.org/2004/02/skos/core#exactMatch スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome https://monarchinitiative.org/MONDO:0018229 NANDO:2201021 http://nanbyodata.jp/ontology/NANDO_2201021 MONDO:0018240 http://www.w3.org/2004/02/skos/core#exactMatch TRPV4異常症 TRPV4-related bone disorder https://monarchinitiative.org/MONDO:0018240 NANDO:2201012 http://nanbyodata.jp/ontology/NANDO_2201012 MONDO:0018570 http://www.w3.org/2004/02/skos/core#exactMatch 低ホスファターゼ症 hypophosphatasia https://monarchinitiative.org/MONDO:0018570 NANDO:2200996 http://nanbyodata.jp/ontology/NANDO_2200996 MONDO:0018781 http://www.w3.org/2004/02/skos/core#exactMatch KID症候群 KID syndrome https://monarchinitiative.org/MONDO:0018781 NANDO:2201003 http://nanbyodata.jp/ontology/NANDO_2201003 MONDO:0018975 http://www.w3.org/2004/02/skos/core#exactMatch 神経線維腫症1型 neurofibromatosis type 1 https://monarchinitiative.org/MONDO:0018975 NANDO:2201011 http://nanbyodata.jp/ontology/NANDO_2201011 MONDO:0019019 http://www.w3.org/2004/02/skos/core#exactMatch 骨形成不全症 osteogenesis imperfecta https://monarchinitiative.org/MONDO:0019019 NANDO:2201031 http://nanbyodata.jp/ontology/NANDO_2201031 MONDO:0019175 http://www.w3.org/2004/02/skos/core#exactMatch 原発性リンパ浮腫 primary lymphedema https://monarchinitiative.org/MONDO:0019175 NANDO:2201034 http://nanbyodata.jp/ontology/NANDO_2201034 MONDO:0019180 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性出血性毛細血管拡張症 hereditary hemorrhagic telangiectasia https://monarchinitiative.org/MONDO:0019180 NANDO:2201056 http://nanbyodata.jp/ontology/NANDO_2201056 MONDO:0019433 http://www.w3.org/2004/02/skos/core#exactMatch 関節型若年性特発性関節炎 oligoarticular juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019433 NANDO:2201055 http://nanbyodata.jp/ontology/NANDO_2201055 MONDO:0019434 http://www.w3.org/2004/02/skos/core#exactMatch 全身型若年性特発性関節炎 systemic-onset juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019434 NANDO:2201058 http://nanbyodata.jp/ontology/NANDO_2201058 MONDO:0019435 http://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎(リウマトイド因子陽性多関節炎) rheumatoid factor-positive polyarticular juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019435 NANDO:2201060 http://nanbyodata.jp/ontology/NANDO_2201060 MONDO:0019437 http://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎(付着部炎関連関節炎) enthesitis-related juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019437 NANDO:2201002 http://nanbyodata.jp/ontology/NANDO_2201002 MONDO:0019600 http://www.w3.org/2004/02/skos/core#exactMatch 色素性乾皮症 xeroderma pigmentosum https://monarchinitiative.org/MONDO:0019600 NANDO:2201061 http://nanbyodata.jp/ontology/NANDO_2201061 MONDO:0019607 http://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎(分類不能関節炎) unspecified juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019607 NANDO:2201017 http://nanbyodata.jp/ontology/NANDO_2201017 MONDO:0019701 http://www.w3.org/2004/02/skos/core#exactMatch 点状軟骨異形成症 chondrodysplasia punctata https://monarchinitiative.org/MONDO:0019701 NANDO:2201007 http://nanbyodata.jp/ontology/NANDO_2201007 MONDO:0019810 http://www.w3.org/2004/02/skos/core#exactMatch 中毒性表皮壊死症 toxic epidermal necrolysis https://monarchinitiative.org/MONDO:0019810 NANDO:2201016 http://nanbyodata.jp/ontology/NANDO_2201016 MONDO:0022800 http://www.w3.org/2004/02/skos/core#exactMatch 2型コラーゲン異常症関連疾患 type 2 collagenopathy https://monarchinitiative.org/MONDO:0022800 NANDO:2200999 http://nanbyodata.jp/ontology/NANDO_2200999 MONDO:0100213 http://www.w3.org/2004/02/skos/core#exactMatch IFAP 症候群1, BRESHECK 症候群伴うまたは伴わない IFAP syndrome 1, with or without BRESHECK syndrome https://monarchinitiative.org/MONDO:0100213 NANDO:2201024 http://nanbyodata.jp/ontology/NANDO_2201024 MONDO:0001414 http://www.w3.org/2004/02/skos/core#exactMatch "" osteopoikilosis https://monarchinitiative.org/MONDO:0001414 NANDO:2201022 http://nanbyodata.jp/ontology/NANDO_2201022 MONDO:0002933 http://www.w3.org/2004/02/skos/core#exactMatch "" osteosclerosis https://monarchinitiative.org/MONDO:0002933 NANDO:2201038 http://nanbyodata.jp/ontology/NANDO_2201038 MONDO:0003075 http://www.w3.org/2004/02/skos/core#exactMatch "" bilateral retinoblastoma https://monarchinitiative.org/MONDO:0003075 NANDO:2201000 http://nanbyodata.jp/ontology/NANDO_2201000 MONDO:0006541 http://www.w3.org/2004/02/skos/core#exactMatch "" epidermolysis bullosa https://monarchinitiative.org/MONDO:0006541 NANDO:2201059 http://nanbyodata.jp/ontology/NANDO_2201059 MONDO:0011849 http://www.w3.org/2004/02/skos/core#exactMatch "" psoriatic arthritis https://monarchinitiative.org/MONDO:0011849 NANDO:2201001 http://nanbyodata.jp/ontology/NANDO_2201001 MONDO:0022205 http://www.w3.org/2004/02/skos/core#exactMatch "" pustular psoriasis https://monarchinitiative.org/MONDO:0022205 NANDO:2201057 http://nanbyodata.jp/ontology/NANDO_2201057 MONDO:0043152 http://www.w3.org/2004/02/skos/core#exactMatch "" negative rheumatoid factor polyarthritis https://monarchinitiative.org/MONDO:0043152 NANDO:2201168 http://nanbyodata.jp/ontology/NANDO_2201168 MONDO:0001586 http://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症1型 mucopolysaccharidosis type 1 https://monarchinitiative.org/MONDO:0001586 NANDO:2201069 http://nanbyodata.jp/ontology/NANDO_2201069 MONDO:0007452 http://www.w3.org/2004/02/skos/core#exactMatch 若年発症成人型糖尿病1型 maturity-onset diabetes of the young type 1 https://monarchinitiative.org/MONDO:0007452 NANDO:2201070 http://nanbyodata.jp/ontology/NANDO_2201070 MONDO:0007453 http://www.w3.org/2004/02/skos/core#exactMatch 若年発症成人型糖尿病2型 maturity-onset diabetes of the young type 2 https://monarchinitiative.org/MONDO:0007453 NANDO:2201073 http://nanbyodata.jp/ontology/NANDO_2201073 MONDO:0007669 http://www.w3.org/2004/02/skos/core#exactMatch 腎嚢胞および糖尿病症候群 renal cysts and diabetes syndrome https://monarchinitiative.org/MONDO:0007669 NANDO:2201067 http://nanbyodata.jp/ontology/NANDO_2201067 MONDO:0008633 http://www.w3.org/2004/02/skos/core#exactMatch マックル・ウェルズ症候群 Muckle-Wells syndrome https://monarchinitiative.org/MONDO:0008633 NANDO:2201139 http://nanbyodata.jp/ontology/NANDO_2201139 MONDO:0008723 http://www.w3.org/2004/02/skos/core#closeMatch 極長鎖アシルCoA脱水素酵素欠損症 very long chain acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008723 NANDO:2201153 http://nanbyodata.jp/ontology/NANDO_2201153 MONDO:0009287 http://www.w3.org/2004/02/skos/core#exactMatch グルコース-6-ホスファターゼ欠損による糖原病IA型 glycogen storage disease due to glucose-6-phosphatase deficiency type IA https://monarchinitiative.org/MONDO:0009287 NANDO:2201154 http://nanbyodata.jp/ontology/NANDO_2201154 MONDO:0009288 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病Ib glycogen storage disease Ib https://monarchinitiative.org/MONDO:0009288 NANDO:2201109 http://nanbyodata.jp/ontology/NANDO_2201109 MONDO:0009354 http://www.w3.org/2004/02/skos/core#exactMatch メチルコバラミン欠乏症cblE型 methylcobalamin deficiency type cblE https://monarchinitiative.org/MONDO:0009354 NANDO:2201084 http://nanbyodata.jp/ontology/NANDO_2201084 MONDO:0009377 http://www.w3.org/2004/02/skos/core#closeMatch Nアセチルグルタミン酸合成酵素欠損による高アンモニア血症 hyperammonemia due to N-acetylglutamate synthase deficiency https://monarchinitiative.org/MONDO:0009377 NANDO:2201151 http://nanbyodata.jp/ontology/NANDO_2201151 MONDO:0009414 http://www.w3.org/2004/02/skos/core#exactMatch 肝グリコーゲン合成酵素欠損による糖原病 glycogen storage disorder due to hepatic glycogen synthase deficiency https://monarchinitiative.org/MONDO:0009414 NANDO:2201119 http://nanbyodata.jp/ontology/NANDO_2201119 MONDO:0009520 http://www.w3.org/2004/02/skos/core#closeMatch 3-ヒドロキシ-3-メチルグルタル酸尿症 3-hydroxy-3-methylglutaric aciduria https://monarchinitiative.org/MONDO:0009520 NANDO:2201111 http://nanbyodata.jp/ontology/NANDO_2201111 MONDO:0009609 http://www.w3.org/2004/02/skos/core#exactMatch メチルコバラミン欠乏症cblG型 methylcobalamin deficiency type cblG https://monarchinitiative.org/MONDO:0009609 NANDO:2201105 http://nanbyodata.jp/ontology/NANDO_2201105 MONDO:0009613 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸血症cblA型 methylmalonic aciduria, cblA type https://monarchinitiative.org/MONDO:0009613 NANDO:2201106 http://nanbyodata.jp/ontology/NANDO_2201106 MONDO:0009614 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸血症cblB型 methylmalonic aciduria, cblB type https://monarchinitiative.org/MONDO:0009614 NANDO:2201174 http://nanbyodata.jp/ontology/NANDO_2201174 MONDO:0009655 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3A型 mucopolysaccharidosis type 3A https://monarchinitiative.org/MONDO:0009655 NANDO:2201175 http://nanbyodata.jp/ontology/NANDO_2201175 MONDO:0009656 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 10型 mucopolysaccharidosis type 3B https://monarchinitiative.org/MONDO:0009656 NANDO:2201075 http://nanbyodata.jp/ontology/NANDO_2201075 MONDO:0009861 http://www.w3.org/2004/02/skos/core#closeMatch フェニルケトン尿症 phenylketonuria https://monarchinitiative.org/MONDO:0009861 NANDO:2201165 http://nanbyodata.jp/ontology/NANDO_2201165 MONDO:0009868 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXb glycogen storage disease IXb https://monarchinitiative.org/MONDO:0009868 NANDO:2201163 http://nanbyodata.jp/ontology/NANDO_2201163 MONDO:0009897 http://www.w3.org/2004/02/skos/core#exactMatch 成人型ポリグルコサン小体病 adult polyglucosan body disease https://monarchinitiative.org/MONDO:0009897 NANDO:2201110 http://nanbyodata.jp/ontology/NANDO_2201110 MONDO:0010183 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸尿症およびホモシスチン尿症cblF型 methylmalonic aciduria and homocystinuria type cblF https://monarchinitiative.org/MONDO:0010183 NANDO:2201107 http://nanbyodata.jp/ontology/NANDO_2201107 MONDO:0010184 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸尿症およびホモシスチン尿症cblC型 methylmalonic aciduria and homocystinuria type cblC https://monarchinitiative.org/MONDO:0010184 NANDO:2201108 http://nanbyodata.jp/ontology/NANDO_2201108 MONDO:0010185 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸尿症およびホモシスチン尿症cblD型 methylmalonic aciduria and homocystinuria type cblD https://monarchinitiative.org/MONDO:0010185 NANDO:2201167 http://nanbyodata.jp/ontology/NANDO_2201167 MONDO:0010362 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXd glycogen storage disease IXd https://monarchinitiative.org/MONDO:0010362 NANDO:2201164 http://nanbyodata.jp/ontology/NANDO_2201164 MONDO:0010598 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXa1 glycogen storage disease IXa1 https://monarchinitiative.org/MONDO:0010598 NANDO:2201071 http://nanbyodata.jp/ontology/NANDO_2201071 MONDO:0010894 http://www.w3.org/2004/02/skos/core#exactMatch 若年発症成人型糖尿病3型 maturity-onset diabetes of the young type 3 https://monarchinitiative.org/MONDO:0010894 NANDO:2201072 http://nanbyodata.jp/ontology/NANDO_2201072 MONDO:0011667 http://www.w3.org/2004/02/skos/core#exactMatch 若年発症成人型糖尿病4型 maturity-onset diabetes of the young type 4 https://monarchinitiative.org/MONDO:0011667 NANDO:2201168 http://nanbyodata.jp/ontology/NANDO_2201168 MONDO:0011758 http://www.w3.org/2004/02/skos/core#closeMatch Hurler症候群 Hurler syndrome https://monarchinitiative.org/MONDO:0011758 NANDO:2201170 http://nanbyodata.jp/ontology/NANDO_2201170 MONDO:0011759 http://www.w3.org/2004/02/skos/core#exactMatch Hurler-Scheie症候群 Hurler-Scheie syndrome https://monarchinitiative.org/MONDO:0011759 NANDO:2201169 http://nanbyodata.jp/ontology/NANDO_2201169 MONDO:0011760 http://www.w3.org/2004/02/skos/core#exactMatch Scheie症候群 Scheie syndrome https://monarchinitiative.org/MONDO:0011760 NANDO:2201132 http://nanbyodata.jp/ontology/NANDO_2201132 MONDO:0012136 http://www.w3.org/2004/02/skos/core#exactMatch カルニチンパルミトイルトランスフェラーゼII欠損症, 新生児型 carnitine palmitoyl transferase II deficiency, neonatal form https://monarchinitiative.org/MONDO:0012136 NANDO:2201147 http://nanbyodata.jp/ontology/NANDO_2201147 MONDO:0012172 http://www.w3.org/2004/02/skos/core#closeMatch ミトコンドリア三頭酵素欠損症 mitochondrial trifunctional protein deficiency https://monarchinitiative.org/MONDO:0012172 NANDO:2201152 http://nanbyodata.jp/ontology/NANDO_2201152 MONDO:0012693 http://www.w3.org/2004/02/skos/core#exactMatch 筋・心グリコーゲン合成酵素欠損による糖原病 glycogen storage disease due to muscle and heart glycogen synthase deficiency https://monarchinitiative.org/MONDO:0012693 NANDO:2201166 http://nanbyodata.jp/ontology/NANDO_2201166 MONDO:0013091 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXc glycogen storage disease IXc https://monarchinitiative.org/MONDO:0013091 NANDO:2201133 http://nanbyodata.jp/ontology/NANDO_2201133 MONDO:0015515 http://www.w3.org/2004/02/skos/core#closeMatch 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://monarchinitiative.org/MONDO:0015515 NANDO:2201134 http://nanbyodata.jp/ontology/NANDO_2201134 MONDO:0015515 http://www.w3.org/2004/02/skos/core#closeMatch 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://monarchinitiative.org/MONDO:0015515 NANDO:2201173 http://nanbyodata.jp/ontology/NANDO_2201173 MONDO:0016315 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型, 重症型 mucopolysaccharidosis type 2, severe form https://monarchinitiative.org/MONDO:0016315 NANDO:2201172 http://nanbyodata.jp/ontology/NANDO_2201172 MONDO:0016316 http://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症2型, 軽症型 mucopolysaccharidosis type 2, attenuated form https://monarchinitiative.org/MONDO:0016316 NANDO:2201171 http://nanbyodata.jp/ontology/NANDO_2201171 MONDO:0016316 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型, 軽症型 mucopolysaccharidosis type 2, attenuated form https://monarchinitiative.org/MONDO:0016316 NANDO:2201094 http://nanbyodata.jp/ontology/NANDO_2201094 MONDO:0016600 http://www.w3.org/2004/02/skos/core#exactMatch 急性新生児シトルリン血症I型 acute neonatal citrullinemia type I https://monarchinitiative.org/MONDO:0016600 NANDO:2201095 http://nanbyodata.jp/ontology/NANDO_2201095 MONDO:0016601 http://www.w3.org/2004/02/skos/core#exactMatch 成人発症シトルリン血症I型 adult-onset citrullinemia type I https://monarchinitiative.org/MONDO:0016601 NANDO:2201078 http://nanbyodata.jp/ontology/NANDO_2201078 MONDO:0017051 http://www.w3.org/2004/02/skos/core#exactMatch 古典型メープルシロップ尿症 classic maple syrup urine disease https://monarchinitiative.org/MONDO:0017051 NANDO:2201079 http://nanbyodata.jp/ontology/NANDO_2201079 MONDO:0017052 http://www.w3.org/2004/02/skos/core#exactMatch 中間型メープルシロップ尿症 intermediate maple syrup urine disease https://monarchinitiative.org/MONDO:0017052 NANDO:2201080 http://nanbyodata.jp/ontology/NANDO_2201080 MONDO:0017053 http://www.w3.org/2004/02/skos/core#exactMatch 間欠型メープルシロップ尿症 intermittent maple syrup urine disease https://monarchinitiative.org/MONDO:0017053 NANDO:2201081 http://nanbyodata.jp/ontology/NANDO_2201081 MONDO:0017054 http://www.w3.org/2004/02/skos/core#exactMatch チアミン反応型メープルシロップ尿症 thiamine-responsive maple syrup urine disease https://monarchinitiative.org/MONDO:0017054 NANDO:2201077 http://nanbyodata.jp/ontology/NANDO_2201077 MONDO:0017389 http://www.w3.org/2004/02/skos/core#exactMatch BH4反応性高Phe血症 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria https://monarchinitiative.org/MONDO:0017389 NANDO:2201159 http://nanbyodata.jp/ontology/NANDO_2201159 MONDO:0017695 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損による糖原病, 進行性肝型 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form https://monarchinitiative.org/MONDO:0017695 NANDO:2201160 http://nanbyodata.jp/ontology/NANDO_2201160 MONDO:0017696 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損による糖原病, 非進行性肝型 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form https://monarchinitiative.org/MONDO:0017696 NANDO:2201161 http://nanbyodata.jp/ontology/NANDO_2201161 MONDO:0017697 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損による糖原病, 致死性周産期神経筋型 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form https://monarchinitiative.org/MONDO:0017697 NANDO:2201162 http://nanbyodata.jp/ontology/NANDO_2201162 MONDO:0017699 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損症による糖原病, 小児期肝筋型 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form https://monarchinitiative.org/MONDO:0017699 NANDO:2201068 http://nanbyodata.jp/ontology/NANDO_2201068 MONDO:0018768 http://www.w3.org/2004/02/skos/core#exactMatch 家族性寒冷蕁麻疹 familial cold autoinflammatory syndrome https://monarchinitiative.org/MONDO:0018768 NANDO:2201111 http://nanbyodata.jp/ontology/NANDO_2201111 MONDO:0021915 http://www.w3.org/2004/02/skos/core#closeMatch "" arakawa syndrome 2 https://monarchinitiative.org/MONDO:0021915 NANDO:2201275 http://nanbyodata.jp/ontology/NANDO_2201275 MONDO:0001713 http://www.w3.org/2004/02/skos/core#exactMatch 先天性再生不良性貧血 inherited aplastic anemia https://monarchinitiative.org/MONDO:0001713 NANDO:2201264 http://nanbyodata.jp/ontology/NANDO_2201264 MONDO:0007369 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性コプロポルフィリン症 hereditary coproporphyria https://monarchinitiative.org/MONDO:0007369 NANDO:2201256 http://nanbyodata.jp/ontology/NANDO_2201256 MONDO:0007522 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 古典型 Ehlers-Danlos syndrome, classic type https://monarchinitiative.org/MONDO:0007522 NANDO:2201257 http://nanbyodata.jp/ontology/NANDO_2201257 MONDO:0007523 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 関節過可動型 Ehlers-Danlos syndrome, hypermobility type https://monarchinitiative.org/MONDO:0007523 NANDO:2201260 http://nanbyodata.jp/ontology/NANDO_2201260 MONDO:0007525 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 多発関節弛緩型 Ehlers-Danlos syndrome, arthrochalasia type https://monarchinitiative.org/MONDO:0007525 NANDO:2201263 http://nanbyodata.jp/ontology/NANDO_2201263 MONDO:0008294 http://www.w3.org/2004/02/skos/core#exactMatch 急性間欠性ポルフィリン症 acute intermittent porphyria https://monarchinitiative.org/MONDO:0008294 NANDO:2201265 http://nanbyodata.jp/ontology/NANDO_2201265 MONDO:0008297 http://www.w3.org/2004/02/skos/core#exactMatch 異型ポルフィリン症 variegate porphyria https://monarchinitiative.org/MONDO:0008297 NANDO:2201266 http://nanbyodata.jp/ontology/NANDO_2201266 MONDO:0008319 http://www.w3.org/2004/02/skos/core#closeMatch プロトポルフィリン症, 骨髄性, 1 protoporphyria, erythropoietic, 1 https://monarchinitiative.org/MONDO:0008319 NANDO:2201242 http://nanbyodata.jp/ontology/NANDO_2201242 MONDO:0008769 http://www.w3.org/2004/02/skos/core#closeMatch 神経性セロイドリポフスチン沈着症2 neuronal ceroid lipofuscinosis 2 https://monarchinitiative.org/MONDO:0008769 NANDO:2201236 http://nanbyodata.jp/ontology/NANDO_2201236 MONDO:0009064 http://www.w3.org/2004/02/skos/core#exactMatch 眼型シスチン症 ocular cystinosis https://monarchinitiative.org/MONDO:0009064 NANDO:2201235 http://nanbyodata.jp/ontology/NANDO_2201235 MONDO:0009066 http://www.w3.org/2004/02/skos/core#exactMatch 中間型シスチン症 juvenile nephropathic cystinosis https://monarchinitiative.org/MONDO:0009066 NANDO:2201261 http://nanbyodata.jp/ontology/NANDO_2201261 MONDO:0009161 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 皮膚脆弱型 Ehlers-Danlos syndrome, dermatosparaxis type https://monarchinitiative.org/MONDO:0009161 NANDO:2201196 http://nanbyodata.jp/ontology/NANDO_2201196 MONDO:0009260 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス1型 GM1 gangliosidosis type 1 https://monarchinitiative.org/MONDO:0009260 NANDO:2201197 http://nanbyodata.jp/ontology/NANDO_2201197 MONDO:0009261 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス2型 GM1 gangliosidosis type 2 https://monarchinitiative.org/MONDO:0009261 NANDO:2201198 http://nanbyodata.jp/ontology/NANDO_2201198 MONDO:0009262 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス3型 GM1 gangliosidosis type 3 https://monarchinitiative.org/MONDO:0009262 NANDO:2201210 http://nanbyodata.jp/ontology/NANDO_2201210 MONDO:0009265 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病I型 Gaucher disease type I https://monarchinitiative.org/MONDO:0009265 NANDO:2201211 http://nanbyodata.jp/ontology/NANDO_2201211 MONDO:0009266 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病II型 Gaucher disease type II https://monarchinitiative.org/MONDO:0009266 NANDO:2201212 http://nanbyodata.jp/ontology/NANDO_2201212 MONDO:0009267 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病III型 Gaucher disease type III https://monarchinitiative.org/MONDO:0009267 NANDO:2201190 http://nanbyodata.jp/ontology/NANDO_2201190 MONDO:0009562 http://www.w3.org/2004/02/skos/core#exactMatch β-マンノシドーシス beta-mannosidosis https://monarchinitiative.org/MONDO:0009562 NANDO:2201205 http://nanbyodata.jp/ontology/NANDO_2201205 MONDO:0009590 http://www.w3.org/2004/02/skos/core#exactMatch サポシンB欠損性異染性白質ジストロフィー metachromatic leukodystrophy due to saposin B deficiency https://monarchinitiative.org/MONDO:0009590 NANDO:2201203 http://nanbyodata.jp/ontology/NANDO_2201203 MONDO:0009591 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 若年型 metachromatic leukodystrophy, juvenile form https://monarchinitiative.org/MONDO:0009591 NANDO:2201176 http://nanbyodata.jp/ontology/NANDO_2201176 MONDO:0009657 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3B型 mucopolysaccharidosis type 3C https://monarchinitiative.org/MONDO:0009657 NANDO:2201177 http://nanbyodata.jp/ontology/NANDO_2201177 MONDO:0009658 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3C型 mucopolysaccharidosis type 3D https://monarchinitiative.org/MONDO:0009658 NANDO:2201178 http://nanbyodata.jp/ontology/NANDO_2201178 MONDO:0009659 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4A型 mucopolysaccharidosis type 4A https://monarchinitiative.org/MONDO:0009659 NANDO:2201179 http://nanbyodata.jp/ontology/NANDO_2201179 MONDO:0009660 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4B型 mucopolysaccharidosis type 4B https://monarchinitiative.org/MONDO:0009660 NANDO:2201193 http://nanbyodata.jp/ontology/NANDO_2201193 MONDO:0009738 http://www.w3.org/2004/02/skos/core#closeMatch シアリドーシス2型 sialidosis type 2 https://monarchinitiative.org/MONDO:0009738 NANDO:2201192 http://nanbyodata.jp/ontology/NANDO_2201192 MONDO:0009738 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス2型 sialidosis type 2 https://monarchinitiative.org/MONDO:0009738 NANDO:2201241 http://nanbyodata.jp/ontology/NANDO_2201241 MONDO:0009744 http://www.w3.org/2004/02/skos/core#closeMatch 神経性セロイドリポフスチン沈着症1 neuronal ceroid lipofuscinosis 1 https://monarchinitiative.org/MONDO:0009744 NANDO:2201206 http://nanbyodata.jp/ontology/NANDO_2201206 MONDO:0009756 http://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病A型 Niemann-Pick disease type A https://monarchinitiative.org/MONDO:0009756 NANDO:2201268 http://nanbyodata.jp/ontology/NANDO_2201268 MONDO:0009902 http://www.w3.org/2004/02/skos/core#exactMatch 皮膚ポルフィリン症 cutaneous porphyria https://monarchinitiative.org/MONDO:0009902 NANDO:2201200 http://nanbyodata.jp/ontology/NANDO_2201200 MONDO:0010006 http://www.w3.org/2004/02/skos/core#exactMatch サンドホフ病 Sandhoff disease https://monarchinitiative.org/MONDO:0010006 NANDO:2201237 http://nanbyodata.jp/ontology/NANDO_2201237 MONDO:0010027 http://www.w3.org/2004/02/skos/core#exactMatch 遊離シアル酸蓄積症, 乳児型 free sialic acid storage disease, infantile form https://monarchinitiative.org/MONDO:0010027 NANDO:2201227 http://nanbyodata.jp/ontology/NANDO_2201227 MONDO:0010088 http://www.w3.org/2004/02/skos/core#closeMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:2201228 http://nanbyodata.jp/ontology/NANDO_2201228 MONDO:0010088 http://www.w3.org/2004/02/skos/core#closeMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:2201201 http://nanbyodata.jp/ontology/NANDO_2201201 MONDO:0010099 http://www.w3.org/2004/02/skos/core#exactMatch テイ・サックス病AB変異体 Tay-Sachs disease AB variant https://monarchinitiative.org/MONDO:0010099 NANDO:2201199 http://nanbyodata.jp/ontology/NANDO_2201199 MONDO:0010100 http://www.w3.org/2004/02/skos/core#exactMatch テイ・サックス病 Tay-Sachs disease https://monarchinitiative.org/MONDO:0010100 NANDO:2201246 http://nanbyodata.jp/ontology/NANDO_2201246 MONDO:0010247 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性大脳型副腎白質ジストロフィー X-linked cerebral adrenoleukodystrophy https://monarchinitiative.org/MONDO:0010247 NANDO:2201279 http://nanbyodata.jp/ontology/NANDO_2201279 MONDO:0010389 http://www.w3.org/2004/02/skos/core#exactMatch CYBB欠損によるX連鎖性メンデル遺伝型マイコバクテリア易感染症 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency https://monarchinitiative.org/MONDO:0010389 NANDO:2201269 http://nanbyodata.jp/ontology/NANDO_2201269 MONDO:0010420 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖骨髄性プロトポルフィリン症 X-linked erythropoietic protoporphyria https://monarchinitiative.org/MONDO:0010420 NANDO:2201262 http://nanbyodata.jp/ontology/NANDO_2201262 MONDO:0011142 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 筋拘縮型 Ehlers-Danlos syndrome, musculocontractural type https://monarchinitiative.org/MONDO:0011142 NANDO:2201273 http://nanbyodata.jp/ontology/NANDO_2201273 MONDO:0011399 http://www.w3.org/2004/02/skos/core#exactMatch αサラセミアスペクトル alpha thalassemia spectrum https://monarchinitiative.org/MONDO:0011399 NANDO:2201207 http://nanbyodata.jp/ontology/NANDO_2201207 MONDO:0011871 http://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病B型 Niemann-Pick disease type B https://monarchinitiative.org/MONDO:0011871 NANDO:2201276 http://nanbyodata.jp/ontology/NANDO_2201276 MONDO:0012197 http://www.w3.org/2004/02/skos/core#exactMatch 特発性再生不良性貧血 idiopathic aplastic anemia https://monarchinitiative.org/MONDO:0012197 NANDO:2201267 http://nanbyodata.jp/ontology/NANDO_2201267 MONDO:0015104 http://www.w3.org/2004/02/skos/core#exactMatch 晩発性皮膚ポルフィリン症 porphyria cutanea tarda https://monarchinitiative.org/MONDO:0015104 NANDO:2201248 http://nanbyodata.jp/ontology/NANDO_2201248 MONDO:0015339 http://www.w3.org/2004/02/skos/core#exactMatch 副腎脊髄ニューロパチー adrenomyeloneuropathy https://monarchinitiative.org/MONDO:0015339 NANDO:2201277 http://nanbyodata.jp/ontology/NANDO_2201277 MONDO:0015610 http://www.w3.org/2004/02/skos/core#exactMatch 二次性再生不良性貧血 acquired aplastic anemia https://monarchinitiative.org/MONDO:0015610 NANDO:2201242 http://nanbyodata.jp/ontology/NANDO_2201242 MONDO:0015674 http://www.w3.org/2004/02/skos/core#exactMatch 遅発乳児型神経性セロイドリポフスチン沈着症 late infantile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0015674 NANDO:2201259 http://nanbyodata.jp/ontology/NANDO_2201259 MONDO:0016002 http://www.w3.org/2004/02/skos/core#closeMatch エーラス・ダンロス症候群, 後側彎型1 Ehlers-Danlos syndrome, kyphoscoliotic type 1 https://monarchinitiative.org/MONDO:0016002 NANDO:2201216 http://nanbyodata.jp/ontology/NANDO_2201216 MONDO:0016089 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型クラッベ病 infantile Krabbe disease https://monarchinitiative.org/MONDO:0016089 NANDO:2201219 http://nanbyodata.jp/ontology/NANDO_2201219 MONDO:0016091 http://www.w3.org/2004/02/skos/core#exactMatch 成人型クラッベ病 adult Krabbe disease https://monarchinitiative.org/MONDO:0016091 NANDO:2201209 http://nanbyodata.jp/ontology/NANDO_2201209 MONDO:0016310 http://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病C型, 成人期神経発症 Niemann-Pick disease type C, adult neurologic onset https://monarchinitiative.org/MONDO:0016310 NANDO:2201258 http://nanbyodata.jp/ontology/NANDO_2201258 MONDO:0017314 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 血管型 Ehlers-Danlos syndrome, vascular type https://monarchinitiative.org/MONDO:0017314 NANDO:2201229 http://nanbyodata.jp/ontology/NANDO_2201229 MONDO:0017694 http://www.w3.org/2004/02/skos/core#exactMatch 酸性マルターゼ欠損による糖原病, 乳児期発症 glycogen storage disease due to acid maltase deficiency, infantile onset https://monarchinitiative.org/MONDO:0017694 NANDO:2201202 http://nanbyodata.jp/ontology/NANDO_2201202 MONDO:0017729 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 乳幼児型 metachromatic leukodystrophy, late infantile form https://monarchinitiative.org/MONDO:0017729 NANDO:2201204 http://nanbyodata.jp/ontology/NANDO_2201204 MONDO:0017730 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 成人型 metachromatic leukodystrophy, adult form https://monarchinitiative.org/MONDO:0017730 NANDO:2201188 http://nanbyodata.jp/ontology/NANDO_2201188 MONDO:0017732 http://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス型, 乳児型 alpha-mannosidosis, infantile form https://monarchinitiative.org/MONDO:0017732 NANDO:2201189 http://nanbyodata.jp/ontology/NANDO_2201189 MONDO:0017733 http://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス型, 若年成人型 alpha-mannosidosis, adult form https://monarchinitiative.org/MONDO:0017733 NANDO:2201238 http://nanbyodata.jp/ontology/NANDO_2201238 MONDO:0017737 http://www.w3.org/2004/02/skos/core#exactMatch 中間型遊離シアル酸蓄積症 intermediate severe Salla disease https://monarchinitiative.org/MONDO:0017737 NANDO:2201255 http://nanbyodata.jp/ontology/NANDO_2201255 MONDO:0018328 http://www.w3.org/2004/02/skos/core#exactMatch ホモ接合性家族性高コレステロール血症 homozygous familial hypercholesterolemia https://monarchinitiative.org/MONDO:0018328 NANDO:2201234 http://nanbyodata.jp/ontology/NANDO_2201234 MONDO:0018467 http://www.w3.org/2004/02/skos/core#closeMatch 腎型シスチン症 nephropathic infantile cystinosis https://monarchinitiative.org/MONDO:0018467 NANDO:2201232 http://nanbyodata.jp/ontology/NANDO_2201232 MONDO:0019148 http://www.w3.org/2004/02/skos/core#exactMatch 酸性リパーゼ欠損症 Wolman disease https://monarchinitiative.org/MONDO:0019148 NANDO:2201233 http://nanbyodata.jp/ontology/NANDO_2201233 MONDO:0019149 http://www.w3.org/2004/02/skos/core#exactMatch コレステロールエステル蓄積症 cholesteryl ester storage disease https://monarchinitiative.org/MONDO:0019149 NANDO:2201244 http://nanbyodata.jp/ontology/NANDO_2201244 MONDO:0019260 http://www.w3.org/2004/02/skos/core#exactMatch 成人型神経性セロイドリポフスチン沈着症 adult neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019260 NANDO:2201241 http://nanbyodata.jp/ontology/NANDO_2201241 MONDO:0019261 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型神経性セロイドリポフスチン沈着症 infantile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019261 NANDO:2201243 http://nanbyodata.jp/ontology/NANDO_2201243 MONDO:0019262 http://www.w3.org/2004/02/skos/core#exactMatch 若年型神経性セロイドリポフスチン沈着症 juvenile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019262 NANDO:2201191 http://nanbyodata.jp/ontology/NANDO_2201191 MONDO:0019346 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス1型 sialidosis type 1 https://monarchinitiative.org/MONDO:0019346 NANDO:2201274 http://nanbyodata.jp/ontology/NANDO_2201274 MONDO:0019402 http://www.w3.org/2004/02/skos/core#exactMatch βサラセミア beta thalassemia https://monarchinitiative.org/MONDO:0019402 NANDO:2201270 http://nanbyodata.jp/ontology/NANDO_2201270 MONDO:0019799 http://www.w3.org/2004/02/skos/core#exactMatch 肝性骨髄性ポルフィリン症 hepatoerythropoietic porphyria https://monarchinitiative.org/MONDO:0019799 NANDO:2201234 http://nanbyodata.jp/ontology/NANDO_2201234 MONDO:0100151 http://www.w3.org/2004/02/skos/core#exactMatch 腎型シスチン症 nephropathic cystinosis https://monarchinitiative.org/MONDO:0100151 NANDO:2201266 http://nanbyodata.jp/ontology/NANDO_2201266 MONDO:0001676 http://www.w3.org/2004/02/skos/core#exactMatch "" erythropoietic protoporphyria https://monarchinitiative.org/MONDO:0001676 NANDO:2201188 http://nanbyodata.jp/ontology/NANDO_2201188 MONDO:0022424 http://www.w3.org/2004/02/skos/core#closeMatch "" alpha-mannosidosis type 1 https://monarchinitiative.org/MONDO:0022424 NANDO:2201354 http://nanbyodata.jp/ontology/NANDO_2201354 MONDO:0007160 http://www.w3.org/2004/02/skos/core#exactMatch スティックラー症候群1型 Stickler syndrome type 1 https://monarchinitiative.org/MONDO:0007160 NANDO:2201359 http://nanbyodata.jp/ontology/NANDO_2201359 MONDO:0007322 http://www.w3.org/2004/02/skos/core#exactMatch 点状軟骨異形成症, 脛骨-中手骨型 chondrodysplasia punctata, tibial-metacarpal type https://monarchinitiative.org/MONDO:0007322 NANDO:2201347 http://nanbyodata.jp/ontology/NANDO_2201347 MONDO:0007895 http://www.w3.org/2004/02/skos/core#exactMatch 扁平椎異形成症, Torrance型 platyspondylic dysplasia, Torrance type https://monarchinitiative.org/MONDO:0007895 NANDO:2201364 http://nanbyodata.jp/ontology/NANDO_2201364 MONDO:0007970 http://www.w3.org/2004/02/skos/core#exactMatch メロレオストーシス melorheostosis https://monarchinitiative.org/MONDO:0007970 NANDO:2201350 http://nanbyodata.jp/ontology/NANDO_2201350 MONDO:0007987 http://www.w3.org/2004/02/skos/core#exactMatch クニースト骨異形成症 Kniest dysplasia https://monarchinitiative.org/MONDO:0007987 NANDO:2201386 http://nanbyodata.jp/ontology/NANDO_2201386 MONDO:0008264 http://www.w3.org/2004/02/skos/core#exactMatch 高尿酸血症を伴うまたは伴わない常染色体顕性髄質嚢胞腎 autosomal dominant medullary cystic kidney disease with or without hyperuricemia https://monarchinitiative.org/MONDO:0008264 NANDO:2201348 http://nanbyodata.jp/ontology/NANDO_2201348 MONDO:0008471 http://www.w3.org/2004/02/skos/core#exactMatch 先天性脊椎骨端異形成症 spondyloepiphyseal dysplasia congenita https://monarchinitiative.org/MONDO:0008471 NANDO:2201349 http://nanbyodata.jp/ontology/NANDO_2201349 MONDO:0008476 http://www.w3.org/2004/02/skos/core#exactMatch 脊椎骨端骨幹端異形成症, Strudwick型 spondyloepimetaphyseal dysplasia, Strudwick type https://monarchinitiative.org/MONDO:0008476 NANDO:2201345 http://nanbyodata.jp/ontology/NANDO_2201345 MONDO:0008702 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨無発生症II型 achondrogenesis type II https://monarchinitiative.org/MONDO:0008702 NANDO:2201345 http://nanbyodata.jp/ontology/NANDO_2201345 MONDO:0008703 http://www.w3.org/2004/02/skos/core#closeMatch 遠位中間肢異形成症2A acromesomelic dysplasia 2A https://monarchinitiative.org/MONDO:0008703 NANDO:2201346 http://nanbyodata.jp/ontology/NANDO_2201346 MONDO:0008703 http://www.w3.org/2004/02/skos/core#closeMatch 遠位中間肢異形成症2A acromesomelic dysplasia 2A https://monarchinitiative.org/MONDO:0008703 NANDO:2201361 http://nanbyodata.jp/ontology/NANDO_2201361 MONDO:0008974 http://www.w3.org/2004/02/skos/core#exactMatch Greenberg骨異形成症 Greenberg dysplasia https://monarchinitiative.org/MONDO:0008974 NANDO:2201368 http://nanbyodata.jp/ontology/NANDO_2201368 MONDO:0009031 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋骨幹異形成症 craniodiaphyseal dysplasia https://monarchinitiative.org/MONDO:0009031 NANDO:2201365 http://nanbyodata.jp/ontology/NANDO_2201365 MONDO:0009138 http://www.w3.org/2004/02/skos/core#exactMatch 硬化性骨異形成症 dysosteosclerosis https://monarchinitiative.org/MONDO:0009138 NANDO:2201383 http://nanbyodata.jp/ontology/NANDO_2201383 MONDO:0009179 http://www.w3.org/2004/02/skos/core#exactMatch 劣性栄養障害型表皮水疱症 recessive dystrophic epidermolysis bullosa https://monarchinitiative.org/MONDO:0009179 NANDO:2201379 http://nanbyodata.jp/ontology/NANDO_2201379 MONDO:0009180 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症, 非ヘルリッツ型 junctional epidermolysis bullosa, non-Herlitz type https://monarchinitiative.org/MONDO:0009180 NANDO:2201376 http://nanbyodata.jp/ontology/NANDO_2201376 MONDO:0009181 http://www.w3.org/2004/02/skos/core#exactMatch 単純型表皮水疱症5B epidermolysis bullosa simplex 5B, with muscular dystrophy https://monarchinitiative.org/MONDO:0009181 NANDO:2201378 http://nanbyodata.jp/ontology/NANDO_2201378 MONDO:0009182 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症ヘルリッツ型 junctional epidermolysis bullosa Herlitz type https://monarchinitiative.org/MONDO:0009182 NANDO:2201380 http://nanbyodata.jp/ontology/NANDO_2201380 MONDO:0009183 http://www.w3.org/2004/02/skos/core#exactMatch 幽門閉鎖症合併型接合部型表皮水疱症 junctional epidermolysis bullosa with pyloric atresia https://monarchinitiative.org/MONDO:0009183 NANDO:2201280 http://nanbyodata.jp/ontology/NANDO_2201280 MONDO:0009308 http://www.w3.org/2004/02/skos/core#exactMatch 肉芽腫症, 慢性, 常染色体潜性, シトクロムb陰性 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative https://monarchinitiative.org/MONDO:0009308 NANDO:2201281 http://nanbyodata.jp/ontology/NANDO_2201281 MONDO:0009309 http://www.w3.org/2004/02/skos/core#exactMatch 肉芽腫症, 慢性, 常染色体潜性, シトクロムb陽性, 1型 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 https://monarchinitiative.org/MONDO:0009309 NANDO:2201282 http://nanbyodata.jp/ontology/NANDO_2201282 MONDO:0009310 http://www.w3.org/2004/02/skos/core#exactMatch 肉芽腫症, 慢性, 常染色体潜性, シトクロムb陽性, 2型 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 https://monarchinitiative.org/MONDO:0009310 NANDO:2201385 http://nanbyodata.jp/ontology/NANDO_2201385 MONDO:0009627 http://www.w3.org/2004/02/skos/core#exactMatch ギャロウェイ・モワト症候群 Galloway-Mowat syndrome https://monarchinitiative.org/MONDO:0009627 NANDO:2201367 http://nanbyodata.jp/ontology/NANDO_2201367 MONDO:0009943 http://www.w3.org/2004/02/skos/core#exactMatch パイル病 Pyle disease https://monarchinitiative.org/MONDO:0009943 NANDO:2201351 http://nanbyodata.jp/ontology/NANDO_2201351 MONDO:0010078 http://www.w3.org/2004/02/skos/core#exactMatch 脊椎末梢異形成症 spondyloperipheral dysplasia https://monarchinitiative.org/MONDO:0010078 NANDO:2201301 http://nanbyodata.jp/ontology/NANDO_2201301 MONDO:0010305 http://www.w3.org/2004/02/skos/core#exactMatch クレアチントランスポーター欠損症 creatine transporter deficiency https://monarchinitiative.org/MONDO:0010305 NANDO:2201292 http://nanbyodata.jp/ontology/NANDO_2201292 MONDO:0010354 http://www.w3.org/2004/02/skos/core#exactMatch アラン・ハーンドン・タドリー症候群 Allan-Herndon-Dudley syndrome https://monarchinitiative.org/MONDO:0010354 NANDO:2201356 http://nanbyodata.jp/ontology/NANDO_2201356 MONDO:0010555 http://www.w3.org/2004/02/skos/core#closeMatch X連鎖性根性点状軟骨異形成症1 X-linked chondrodysplasia punctata 1 https://monarchinitiative.org/MONDO:0010555 NANDO:2201360 http://nanbyodata.jp/ontology/NANDO_2201360 MONDO:0010555 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性根性点状軟骨異形成症1 X-linked chondrodysplasia punctata 1 https://monarchinitiative.org/MONDO:0010555 NANDO:2201288 http://nanbyodata.jp/ontology/NANDO_2201288 MONDO:0010714 http://www.w3.org/2004/02/skos/core#exactMatch ペリツェウス・メルツバッハ スペクトラム病 Pelizeaus-Merzbacher spectrum disorder https://monarchinitiative.org/MONDO:0010714 NANDO:2201291 http://nanbyodata.jp/ontology/NANDO_2201291 MONDO:0011147 http://www.w3.org/2004/02/skos/core#exactMatch 18q欠失症候群 chromosome 18q deletion syndrome https://monarchinitiative.org/MONDO:0011147 NANDO:2201294 http://nanbyodata.jp/ontology/NANDO_2201294 MONDO:0011449 http://www.w3.org/2004/02/skos/core#exactMatch サラ病 Salla disease https://monarchinitiative.org/MONDO:0011449 NANDO:2201352 http://nanbyodata.jp/ontology/NANDO_2201352 MONDO:0011496 http://www.w3.org/2004/02/skos/core#exactMatch 早発性変形性関節症を伴うCOL2A1変異による軽症脊椎骨端異形成症 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis https://monarchinitiative.org/MONDO:0011496 NANDO:2201297 http://nanbyodata.jp/ontology/NANDO_2201297 MONDO:0011897 http://www.w3.org/2004/02/skos/core#exactMatch 白質脳症-運動失調-無歯症-を伴う髄鞘形成不全症候群 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome https://monarchinitiative.org/MONDO:0011897 NANDO:2201298 http://nanbyodata.jp/ontology/NANDO_2201298 MONDO:0012198 http://www.w3.org/2004/02/skos/core#exactMatch PCWH症候群 PCWH syndrome https://monarchinitiative.org/MONDO:0012198 NANDO:2201353 http://nanbyodata.jp/ontology/NANDO_2201353 MONDO:0012206 http://www.w3.org/2004/02/skos/core#exactMatch 中足骨短縮を伴う脊椎骨端異形成症 spondyloepiphyseal dysplasia with metatarsal shortening https://monarchinitiative.org/MONDO:0012206 NANDO:2201296 http://nanbyodata.jp/ontology/NANDO_2201296 MONDO:0012514 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー5 hypomyelinating leukodystrophy 5 https://monarchinitiative.org/MONDO:0012514 NANDO:2201293 http://nanbyodata.jp/ontology/NANDO_2201293 MONDO:0012824 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー4 hypomyelinating leukodystrophy 4 https://monarchinitiative.org/MONDO:0012824 NANDO:2201290 http://nanbyodata.jp/ontology/NANDO_2201290 MONDO:0012905 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー6 hypomyelinating leukodystrophy 6 https://monarchinitiative.org/MONDO:0012905 NANDO:2201299 http://nanbyodata.jp/ontology/NANDO_2201299 MONDO:0012996 http://www.w3.org/2004/02/skos/core#exactMatch AGAT欠損症 AGAT deficiency https://monarchinitiative.org/MONDO:0012996 NANDO:2201300 http://nanbyodata.jp/ontology/NANDO_2201300 MONDO:0012999 http://www.w3.org/2004/02/skos/core#exactMatch GAMT欠損症 guanidinoacetate methyltransferase deficiency https://monarchinitiative.org/MONDO:0012999 NANDO:2201283 http://nanbyodata.jp/ontology/NANDO_2201283 MONDO:0013507 http://www.w3.org/2004/02/skos/core#exactMatch 肉芽腫症, 慢性, 常染色体潜性, シトクロムb陽性, 3型 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 https://monarchinitiative.org/MONDO:0013507 NANDO:2201366 http://nanbyodata.jp/ontology/NANDO_2201366 MONDO:0015465 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋骨幹端異形成症 craniometaphyseal dysplasia https://monarchinitiative.org/MONDO:0015465 NANDO:2201289 http://nanbyodata.jp/ontology/NANDO_2201289 MONDO:0017226 http://www.w3.org/2004/02/skos/core#exactMatch ペリツェウス・メルツバッハ様病1 Pelizaeus-Merzbacher-like disease https://monarchinitiative.org/MONDO:0017226 NANDO:2201375 http://nanbyodata.jp/ontology/NANDO_2201375 MONDO:0017610 http://www.w3.org/2004/02/skos/core#closeMatch 単純型表皮水疱症 epidermolysis bullosa simplex https://monarchinitiative.org/MONDO:0017610 NANDO:2201341 http://nanbyodata.jp/ontology/NANDO_2201341 MONDO:0017610 http://www.w3.org/2004/02/skos/core#exactMatch 単純型表皮水疱症 epidermolysis bullosa simplex https://monarchinitiative.org/MONDO:0017610 NANDO:2201342 http://nanbyodata.jp/ontology/NANDO_2201342 MONDO:0017612 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症 junctional epidermolysis bullosa https://monarchinitiative.org/MONDO:0017612 NANDO:2201369 http://nanbyodata.jp/ontology/NANDO_2201369 MONDO:0017838 http://www.w3.org/2004/02/skos/core#exactMatch 硬結性骨化症 sclerosteosis https://monarchinitiative.org/MONDO:0017838 NANDO:2201305 http://nanbyodata.jp/ontology/NANDO_2201305 MONDO:0018065 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性三角頭蓋 isolated trigonocephaly https://monarchinitiative.org/MONDO:0018065 NANDO:2201295 http://nanbyodata.jp/ontology/NANDO_2201295 MONDO:0018655 http://www.w3.org/2004/02/skos/core#exactMatch 小脳萎縮と脳梁低形成を伴うび漫性大脳白質形成不全症 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome https://monarchinitiative.org/MONDO:0018655 NANDO:2201322 http://nanbyodata.jp/ontology/NANDO_2201322 MONDO:0019100 http://www.w3.org/2004/02/skos/core#exactMatch 視神経脊髄炎 neuromyelitis optica https://monarchinitiative.org/MONDO:0019100 NANDO:2201362 http://nanbyodata.jp/ontology/NANDO_2201362 MONDO:0019408 http://www.w3.org/2004/02/skos/core#exactMatch Astley-Kendall骨異形成症 Astley-Kendall dysplasia https://monarchinitiative.org/MONDO:0019408 NANDO:2201346 http://nanbyodata.jp/ontology/NANDO_2201346 MONDO:0019669 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨低発生症 hypochondrogenesis https://monarchinitiative.org/MONDO:0019669 NANDO:2201357 http://nanbyodata.jp/ontology/NANDO_2201357 MONDO:0020603 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性点状軟骨異形成症2型 X-linked chondrodysplasia punctata 2 https://monarchinitiative.org/MONDO:0020603 NANDO:2201317 http://nanbyodata.jp/ontology/NANDO_2201317 MONDO:0021081 http://www.w3.org/2004/02/skos/core#exactMatch 抗NMDA受容体脳炎 anti-NMDA receptor encephalitis https://monarchinitiative.org/MONDO:0021081 NANDO:2201287 http://nanbyodata.jp/ontology/NANDO_2201287 MONDO:0042727 http://www.w3.org/2004/02/skos/core#closeMatch 仙尾部奇形腫 sacrococcygeal teratoma https://monarchinitiative.org/MONDO:0042727 NANDO:2201321 http://nanbyodata.jp/ontology/NANDO_2201321 MONDO:0000450 http://www.w3.org/2004/02/skos/core#exactMatch "" secondary progressive multiple sclerosis https://monarchinitiative.org/MONDO:0000450 NANDO:2201320 http://nanbyodata.jp/ontology/NANDO_2201320 MONDO:0000451 http://www.w3.org/2004/02/skos/core#exactMatch "" primary progressive multiple sclerosis https://monarchinitiative.org/MONDO:0000451 NANDO:2201319 http://nanbyodata.jp/ontology/NANDO_2201319 MONDO:0005314 http://www.w3.org/2004/02/skos/core#exactMatch "" relapsing-remitting multiple sclerosis https://monarchinitiative.org/MONDO:0005314 NANDO:2201453 http://nanbyodata.jp/ontology/NANDO_2201453 MONDO:0002441 http://www.w3.org/2004/02/skos/core#exactMatch ジャーベル・ランゲ-ニールセン症候群 Jervell and Lange-Nielsen syndrome https://monarchinitiative.org/MONDO:0002441 NANDO:2201391 http://nanbyodata.jp/ontology/NANDO_2201391 MONDO:0007029 http://www.w3.org/2004/02/skos/core#exactMatch 鰓耳腎症候群 branchio-oto-renal syndrome https://monarchinitiative.org/MONDO:0007029 NANDO:2201392 http://nanbyodata.jp/ontology/NANDO_2201392 MONDO:0007732 http://www.w3.org/2004/02/skos/core#exactMatch ホルト・オーラム症候群 Holt-Oram syndrome https://monarchinitiative.org/MONDO:0007732 NANDO:2201454 http://nanbyodata.jp/ontology/NANDO_2201454 MONDO:0008276 http://www.w3.org/2004/02/skos/core#closeMatch 全身性若年性ポリポーシス/若年性大腸ポリポーシス generalized juvenile polyposis/juvenile polyposis coli https://monarchinitiative.org/MONDO:0008276 NANDO:2201457 http://nanbyodata.jp/ontology/NANDO_2201457 MONDO:0008276 http://www.w3.org/2004/02/skos/core#closeMatch 全身性若年性ポリポーシス/若年性大腸ポリポーシス generalized juvenile polyposis/juvenile polyposis coli https://monarchinitiative.org/MONDO:0008276 NANDO:2201427 http://nanbyodata.jp/ontology/NANDO_2201427 MONDO:0008546 http://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症1型 thanatophoric dysplasia type 1 https://monarchinitiative.org/MONDO:0008546 NANDO:2201428 http://nanbyodata.jp/ontology/NANDO_2201428 MONDO:0008547 http://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症2型 thanatophoric dysplasia type 2 https://monarchinitiative.org/MONDO:0008547 NANDO:2201436 http://nanbyodata.jp/ontology/NANDO_2201436 MONDO:0008892 http://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞1型 progressive familial intrahepatic cholestasis type 1 https://monarchinitiative.org/MONDO:0008892 NANDO:2201418 http://nanbyodata.jp/ontology/NANDO_2201418 MONDO:0008999 http://www.w3.org/2004/02/skos/core#exactMatch コーエン症候群 Cohen syndrome https://monarchinitiative.org/MONDO:0008999 NANDO:2201476 http://nanbyodata.jp/ontology/NANDO_2201476 MONDO:0009348 http://www.w3.org/2004/02/skos/core#exactMatch 古典的ホジキンリンパ腫 classic Hodgkin lymphoma https://monarchinitiative.org/MONDO:0009348 NANDO:2201479 http://nanbyodata.jp/ontology/NANDO_2201479 MONDO:0009431 http://www.w3.org/2004/02/skos/core#exactMatch 高カルシウム尿症を伴う遺伝性低リン血性くる病 hereditary hypophosphatemic rickets with hypercalciuria https://monarchinitiative.org/MONDO:0009431 NANDO:2201401 http://nanbyodata.jp/ontology/NANDO_2201401 MONDO:0009436 http://www.w3.org/2004/02/skos/core#exactMatch 先天性視床下部過誤腫症候群 congenital hypothalamic hamartoma syndrome https://monarchinitiative.org/MONDO:0009436 NANDO:2201429 http://nanbyodata.jp/ontology/NANDO_2201429 MONDO:0009509 http://www.w3.org/2004/02/skos/core#exactMatch ランドウ・クレフナー症候群 Landau-Kleffner syndrome https://monarchinitiative.org/MONDO:0009509 NANDO:2201430 http://nanbyodata.jp/ontology/NANDO_2201430 MONDO:0009669 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症1型 spinal muscular atrophy, type 1 https://monarchinitiative.org/MONDO:0009669 NANDO:2201432 http://nanbyodata.jp/ontology/NANDO_2201432 MONDO:0009672 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症III型 spinal muscular atrophy, type III https://monarchinitiative.org/MONDO:0009672 NANDO:2201431 http://nanbyodata.jp/ontology/NANDO_2201431 MONDO:0009673 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症II型 spinal muscular atrophy, type II https://monarchinitiative.org/MONDO:0009673 NANDO:2201409 http://nanbyodata.jp/ontology/NANDO_2201409 MONDO:0009945 http://www.w3.org/2004/02/skos/core#exactMatch ピリドキシン依存性てんかん pyridoxine-dependent epilepsy https://monarchinitiative.org/MONDO:0009945 NANDO:2201468 http://nanbyodata.jp/ontology/NANDO_2201468 MONDO:0010030 http://www.w3.org/2004/02/skos/core#closeMatch シェーグレン症候群 Sjogren syndrome https://monarchinitiative.org/MONDO:0010030 NANDO:2201433 http://nanbyodata.jp/ontology/NANDO_2201433 MONDO:0010056 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症IV型 spinal muscular atrophy, type IV https://monarchinitiative.org/MONDO:0010056 NANDO:2201404 http://nanbyodata.jp/ontology/NANDO_2201404 MONDO:0010246 http://www.w3.org/2004/02/skos/core#exactMatch 発達性およびてんかん性脳症9 developmental and epileptic encephalopathy, 9 https://monarchinitiative.org/MONDO:0010246 NANDO:2201393 http://nanbyodata.jp/ontology/NANDO_2201393 MONDO:0010417 http://www.w3.org/2004/02/skos/core#exactMatch 症候性X連鎖性知的障害Najm型 syndromic X-linked intellectual disability Najm type https://monarchinitiative.org/MONDO:0010417 NANDO:2201414 http://nanbyodata.jp/ontology/NANDO_2201414 MONDO:0010476 http://www.w3.org/2004/02/skos/core#exactMatch 脳内に鉄沈着を伴う神経変性症5型 neurodegeneration with brain iron accumulation 5 https://monarchinitiative.org/MONDO:0010476 NANDO:2201395 http://nanbyodata.jp/ontology/NANDO_2201395 MONDO:0010497 http://www.w3.org/2004/02/skos/core#exactMatch 知的障害, X連鎖性102 intellectual disability, X-linked 102 https://monarchinitiative.org/MONDO:0010497 NANDO:2201397 http://nanbyodata.jp/ontology/NANDO_2201397 MONDO:0010568 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ症候群 Aicardi syndrome https://monarchinitiative.org/MONDO:0010568 NANDO:2201475 http://nanbyodata.jp/ontology/NANDO_2201475 MONDO:0010947 http://www.w3.org/2004/02/skos/core#exactMatch バッド・キアリ症候群 Budd-Chiari syndrome https://monarchinitiative.org/MONDO:0010947 NANDO:2201437 http://nanbyodata.jp/ontology/NANDO_2201437 MONDO:0011156 http://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞2型 progressive familial intrahepatic cholestasis type 2 https://monarchinitiative.org/MONDO:0011156 NANDO:2201438 http://nanbyodata.jp/ontology/NANDO_2201438 MONDO:0011214 http://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞3型 progressive familial intrahepatic cholestasis type 3 https://monarchinitiative.org/MONDO:0011214 NANDO:2201417 http://nanbyodata.jp/ontology/NANDO_2201417 MONDO:0011518 http://www.w3.org/2004/02/skos/core#exactMatch ヴィーデマン・スタイナー症候群 Wiedemann-Steiner syndrome https://monarchinitiative.org/MONDO:0011518 NANDO:2201447 http://nanbyodata.jp/ontology/NANDO_2201447 MONDO:0012104 http://www.w3.org/2004/02/skos/core#exactMatch 後天性部分性リポジストロフィー acquired partial lipodystrophy https://monarchinitiative.org/MONDO:0012104 NANDO:2201411 http://nanbyodata.jp/ontology/NANDO_2201411 MONDO:0012407 http://www.w3.org/2004/02/skos/core#exactMatch ピリドキサール依存症 pyridoxal phosphate-responsive seizures https://monarchinitiative.org/MONDO:0012407 NANDO:2201419 http://nanbyodata.jp/ontology/NANDO_2201419 MONDO:0012589 http://www.w3.org/2004/02/skos/core#exactMatch ピット・ホプキンス症候群 Pitt-Hopkins syndrome https://monarchinitiative.org/MONDO:0012589 NANDO:2201389 http://nanbyodata.jp/ontology/NANDO_2201389 MONDO:0013128 http://www.w3.org/2004/02/skos/core#exactMatch 家族性若年性高尿酸血症性腎症2型 familial juvenile hyperuricemic nephropathy type 2 https://monarchinitiative.org/MONDO:0013128 NANDO:2201460 http://nanbyodata.jp/ontology/NANDO_2201460 MONDO:0013187 http://www.w3.org/2004/02/skos/core#exactMatch 第XIII因子欠乏症II型 factor XIII, A subunit, deficiency of https://monarchinitiative.org/MONDO:0013187 NANDO:2201459 http://nanbyodata.jp/ontology/NANDO_2201459 MONDO:0013190 http://www.w3.org/2004/02/skos/core#exactMatch 第XIII因子欠乏症I型 factor XIII, b subunit, deficiency of https://monarchinitiative.org/MONDO:0013190 NANDO:2201400 http://nanbyodata.jp/ontology/NANDO_2201400 MONDO:0013509 http://www.w3.org/2004/02/skos/core#closeMatch 知的障害, 常染色体顕性6 intellectual disability, autosomal dominant 6 https://monarchinitiative.org/MONDO:0013509 NANDO:2201416 http://nanbyodata.jp/ontology/NANDO_2201416 MONDO:0014205 http://www.w3.org/2004/02/skos/core#exactMatch バインブリッジ・ロパース症候群 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome https://monarchinitiative.org/MONDO:0014205 NANDO:2201400 http://nanbyodata.jp/ontology/NANDO_2201400 MONDO:0014505 http://www.w3.org/2004/02/skos/core#closeMatch 発達性およびてんかん性脳症27 developmental and epileptic encephalopathy, 27 https://monarchinitiative.org/MONDO:0014505 NANDO:2201390 http://nanbyodata.jp/ontology/NANDO_2201390 MONDO:0014891 http://www.w3.org/2004/02/skos/core#exactMatch 家族性若年性高尿酸血症性腎症4型 hyperuricemic nephropathy, familial juvenile type 4 https://monarchinitiative.org/MONDO:0014891 NANDO:2201396 http://nanbyodata.jp/ontology/NANDO_2201396 MONDO:0015286 http://www.w3.org/2004/02/skos/core#exactMatch 先天性グリコシル化異常症 congenital disorder of glycosylation https://monarchinitiative.org/MONDO:0015286 NANDO:2201399 http://nanbyodata.jp/ontology/NANDO_2201399 MONDO:0015436 http://www.w3.org/2004/02/skos/core#exactMatch 環状20番染色体 ring chromosome 20 https://monarchinitiative.org/MONDO:0015436 NANDO:2201462 http://nanbyodata.jp/ontology/NANDO_2201462 MONDO:0015986 http://www.w3.org/2004/02/skos/core#exactMatch 両側腎無発生 bilateral renal agenesis https://monarchinitiative.org/MONDO:0015986 NANDO:2201440 http://nanbyodata.jp/ontology/NANDO_2201440 MONDO:0016129 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性胃腸炎 eosinophilic gastroenteritis https://monarchinitiative.org/MONDO:0016129 NANDO:2201426 http://nanbyodata.jp/ontology/NANDO_2201426 MONDO:0017042 http://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症 thanatophoric dysplasia https://monarchinitiative.org/MONDO:0017042 NANDO:2201408 http://nanbyodata.jp/ontology/NANDO_2201408 MONDO:0017385 http://www.w3.org/2004/02/skos/core#exactMatch 遊走性焦点発作を伴う乳児てんかん malignant migrating partial seizures of infancy https://monarchinitiative.org/MONDO:0017385 NANDO:2201480 http://nanbyodata.jp/ontology/NANDO_2201480 MONDO:0018124 http://www.w3.org/2004/02/skos/core#exactMatch 腫瘍性骨軟化症 Oncogenic osteomalacia https://monarchinitiative.org/MONDO:0018124 NANDO:2201463 http://nanbyodata.jp/ontology/NANDO_2201463 MONDO:0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2201464 http://nanbyodata.jp/ontology/NANDO_2201464 MONDO:0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2201465 http://nanbyodata.jp/ontology/NANDO_2201465 MONDO:0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2201466 http://nanbyodata.jp/ontology/NANDO_2201466 MONDO:0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2201467 http://nanbyodata.jp/ontology/NANDO_2201467 MONDO:0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2201441 http://nanbyodata.jp/ontology/NANDO_2201441 MONDO:0018468 http://www.w3.org/2004/02/skos/core#exactMatch Proton pump inhibitor-responsive esophageal eosinophilia proton-pump inhibitor-responsive esophageal eosinophilia https://monarchinitiative.org/MONDO:0018468 NANDO:2201391 http://nanbyodata.jp/ontology/NANDO_2201391 MONDO:0018878 http://www.w3.org/2004/02/skos/core#closeMatch 鰓耳症候群 branchiootic syndrome https://monarchinitiative.org/MONDO:0018878 NANDO:2201444 http://nanbyodata.jp/ontology/NANDO_2201444 MONDO:0018883 http://www.w3.org/2004/02/skos/core#exactMatch 先天性全身性脂肪萎縮症 Berardinelli-Seip congenital lipodystrophy https://monarchinitiative.org/MONDO:0018883 NANDO:2201458 http://nanbyodata.jp/ontology/NANDO_2201458 MONDO:0019190 http://www.w3.org/2004/02/skos/core#exactMatch 新生児・乳児期発症型若年性ポリポーシス juvenile polyposis of infancy https://monarchinitiative.org/MONDO:0019190 NANDO:2201445 http://nanbyodata.jp/ontology/NANDO_2201445 MONDO:0019193 http://www.w3.org/2004/02/skos/core#exactMatch 先天性全身性リポジストロフィー acquired generalized lipodystrophy https://monarchinitiative.org/MONDO:0019193 NANDO:2201406 http://nanbyodata.jp/ontology/NANDO_2201406 MONDO:0019487 http://www.w3.org/2004/02/skos/core#exactMatch ミオクロニー欠神てんかん epilepsy with myoclonic absences https://monarchinitiative.org/MONDO:0019487 NANDO:2201421 http://nanbyodata.jp/ontology/NANDO_2201421 MONDO:0019562 http://www.w3.org/2004/02/skos/core#closeMatch 限局性強皮症 localized scleroderma https://monarchinitiative.org/MONDO:0019562 NANDO:2201420 http://nanbyodata.jp/ontology/NANDO_2201420 MONDO:0019562 http://www.w3.org/2004/02/skos/core#exactMatch 限局性強皮症 localized scleroderma https://monarchinitiative.org/MONDO:0019562 NANDO:2201461 http://nanbyodata.jp/ontology/NANDO_2201461 MONDO:0019636 http://www.w3.org/2004/02/skos/core#exactMatch 一側腎無形成 renal agenesis, unilateral https://monarchinitiative.org/MONDO:0019636 NANDO:2201446 http://nanbyodata.jp/ontology/NANDO_2201446 MONDO:0020088 http://www.w3.org/2004/02/skos/core#exactMatch 家族性部分性リポジストロフィー familial partial lipodystrophy https://monarchinitiative.org/MONDO:0020088 NANDO:2201470 http://nanbyodata.jp/ontology/NANDO_2201470 MONDO:0020099 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性鉄芽球性貧血 inherited sideroblastic anemia https://monarchinitiative.org/MONDO:0020099 NANDO:2201394 http://nanbyodata.jp/ontology/NANDO_2201394 MONDO:0020492 http://www.w3.org/2004/02/skos/core#exactMatch 片側巨脳症 hemimegalencephaly https://monarchinitiative.org/MONDO:0020492 NANDO:2201388 http://nanbyodata.jp/ontology/NANDO_2201388 MONDO:0020726 http://www.w3.org/2004/02/skos/core#exactMatch ADTKD-MUC1 tubulointerstitial kidney disease, autosomal dominant, 2 https://monarchinitiative.org/MONDO:0020726 NANDO:2201410 http://nanbyodata.jp/ontology/NANDO_2201410 MONDO:0020741 http://www.w3.org/2004/02/skos/core#exactMatch ピリドキシン依存性てんかん pyridoxine-dependent epilepsy caused by ALDH7A1 mutant https://monarchinitiative.org/MONDO:0020741 NANDO:2201398 http://nanbyodata.jp/ontology/NANDO_2201398 MONDO:0100062 http://www.w3.org/2004/02/skos/core#exactMatch 発達性およびてんかん性脳症 developmental and epileptic encephalopathy https://monarchinitiative.org/MONDO:0100062 NANDO:2201435 http://nanbyodata.jp/ontology/NANDO_2201435 MONDO:0100164 http://www.w3.org/2004/02/skos/core#exactMatch 永続性新生児糖尿病 permanent neonatal diabetes mellitus https://monarchinitiative.org/MONDO:0100164 NANDO:2201452 http://nanbyodata.jp/ontology/NANDO_2201452 MONDO:0002442 http://www.w3.org/2004/02/skos/core#closeMatch "" long QT syndrome https://monarchinitiative.org/MONDO:0002442 NANDO:2201439 http://nanbyodata.jp/ontology/NANDO_2201439 MONDO:0005361 http://www.w3.org/2004/02/skos/core#exactMatch "" eosinophilic esophagitis https://monarchinitiative.org/MONDO:0005361 NANDO:2201444 http://nanbyodata.jp/ontology/NANDO_2201444 MONDO:0006536 http://www.w3.org/2004/02/skos/core#exactMatch "" congenital generalized lipodystrophy https://monarchinitiative.org/MONDO:0006536 NANDO:2201434 http://nanbyodata.jp/ontology/NANDO_2201434 MONDO:0020525 http://www.w3.org/2004/02/skos/core#exactMatch "" transient neonatal diabetes mellitus https://monarchinitiative.org/MONDO:0020525 NANDO:2201477 http://nanbyodata.jp/ontology/NANDO_2201477 MONDO:0024300 http://www.w3.org/2004/02/skos/core#closeMatch "" hypophosphatemic rickets https://monarchinitiative.org/MONDO:0024300 NANDO:2201442 http://nanbyodata.jp/ontology/NANDO_2201442 MONDO:0027766 http://www.w3.org/2004/02/skos/core#exactMatch "" generalized lipodystrophy https://monarchinitiative.org/MONDO:0027766 NANDO:2201443 http://nanbyodata.jp/ontology/NANDO_2201443 MONDO:0027767 http://www.w3.org/2004/02/skos/core#exactMatch "" partial lipodystrophy https://monarchinitiative.org/MONDO:0027767 NANDO:2201422 http://nanbyodata.jp/ontology/NANDO_2201422 MONDO:0043294 http://www.w3.org/2004/02/skos/core#exactMatch "" linear scleroderma https://monarchinitiative.org/MONDO:0043294 NANDO:2201408 http://nanbyodata.jp/ontology/NANDO_2201408 MONDO:0100025 http://www.w3.org/2004/02/skos/core#closeMatch "" epilepsy of infancy with migrating focal seizures https://monarchinitiative.org/MONDO:0100025 NANDO:2200574 http://nanbyodata.jp/ontology/NANDO_2200574 "" "" "" "" "" NANDO:2200578 http://nanbyodata.jp/ontology/NANDO_2200578 "" "" "" "" "" NANDO:2200585 http://nanbyodata.jp/ontology/NANDO_2200585 "" "" "" "" "" NANDO:2200589 http://nanbyodata.jp/ontology/NANDO_2200589 "" "" "" "" "" NANDO:2200591 http://nanbyodata.jp/ontology/NANDO_2200591 "" "" "" "" "" NANDO:2200593 http://nanbyodata.jp/ontology/NANDO_2200593 "" "" "" "" "" NANDO:2200600 http://nanbyodata.jp/ontology/NANDO_2200600 "" "" "" "" "" NANDO:2200601 http://nanbyodata.jp/ontology/NANDO_2200601 "" "" "" "" "" NANDO:2200606 http://nanbyodata.jp/ontology/NANDO_2200606 "" "" "" "" "" NANDO:2200609 http://nanbyodata.jp/ontology/NANDO_2200609 "" "" "" "" "" NANDO:2200620 http://nanbyodata.jp/ontology/NANDO_2200620 "" "" "" "" "" NANDO:2200621 http://nanbyodata.jp/ontology/NANDO_2200621 "" "" "" "" "" NANDO:2200629 http://nanbyodata.jp/ontology/NANDO_2200629 "" "" "" "" "" NANDO:2200632 http://nanbyodata.jp/ontology/NANDO_2200632 "" "" "" "" "" NANDO:2200638 http://nanbyodata.jp/ontology/NANDO_2200638 "" "" "" "" "" NANDO:2200641 http://nanbyodata.jp/ontology/NANDO_2200641 "" "" "" "" "" NANDO:2200642 http://nanbyodata.jp/ontology/NANDO_2200642 "" "" "" "" "" NANDO:2200646 http://nanbyodata.jp/ontology/NANDO_2200646 "" "" "" "" "" NANDO:2200650 http://nanbyodata.jp/ontology/NANDO_2200650 "" "" "" "" "" NANDO:2200651 http://nanbyodata.jp/ontology/NANDO_2200651 "" "" "" "" "" NANDO:2200654 http://nanbyodata.jp/ontology/NANDO_2200654 "" "" "" "" "" NANDO:2200657 http://nanbyodata.jp/ontology/NANDO_2200657 "" "" "" "" "" NANDO:2200658 http://nanbyodata.jp/ontology/NANDO_2200658 "" "" "" "" "" NANDO:2200659 http://nanbyodata.jp/ontology/NANDO_2200659 "" "" "" "" "" NANDO:2200664 http://nanbyodata.jp/ontology/NANDO_2200664 "" "" "" "" "" NANDO:2200666 http://nanbyodata.jp/ontology/NANDO_2200666 "" "" "" "" "" NANDO:2200667 http://nanbyodata.jp/ontology/NANDO_2200667 "" "" "" "" "" NANDO:2200683 http://nanbyodata.jp/ontology/NANDO_2200683 "" "" "" "" "" NANDO:2200691 http://nanbyodata.jp/ontology/NANDO_2200691 "" "" "" "" "" NANDO:2200703 http://nanbyodata.jp/ontology/NANDO_2200703 "" "" "" "" "" NANDO:2200709 http://nanbyodata.jp/ontology/NANDO_2200709 "" "" "" "" "" NANDO:2200721 http://nanbyodata.jp/ontology/NANDO_2200721 "" "" "" "" "" NANDO:2200723 http://nanbyodata.jp/ontology/NANDO_2200723 "" "" "" "" "" NANDO:2200727 http://nanbyodata.jp/ontology/NANDO_2200727 "" "" "" "" "" NANDO:2200735 http://nanbyodata.jp/ontology/NANDO_2200735 "" "" "" "" "" NANDO:2200742 http://nanbyodata.jp/ontology/NANDO_2200742 "" "" "" "" "" NANDO:2200743 http://nanbyodata.jp/ontology/NANDO_2200743 "" "" "" "" "" NANDO:2200747 http://nanbyodata.jp/ontology/NANDO_2200747 "" "" "" "" "" NANDO:2200748 http://nanbyodata.jp/ontology/NANDO_2200748 "" "" "" "" "" NANDO:2200750 http://nanbyodata.jp/ontology/NANDO_2200750 "" "" "" "" "" NANDO:2200754 http://nanbyodata.jp/ontology/NANDO_2200754 "" "" "" "" "" NANDO:2200760 http://nanbyodata.jp/ontology/NANDO_2200760 "" "" "" "" "" NANDO:2200765 http://nanbyodata.jp/ontology/NANDO_2200765 "" "" "" "" "" NANDO:2200767 http://nanbyodata.jp/ontology/NANDO_2200767 "" "" "" "" "" NANDO:2200769 http://nanbyodata.jp/ontology/NANDO_2200769 "" "" "" "" "" NANDO:2200778 http://nanbyodata.jp/ontology/NANDO_2200778 "" "" "" "" "" NANDO:2200780 http://nanbyodata.jp/ontology/NANDO_2200780 "" "" "" "" "" NANDO:2200786 http://nanbyodata.jp/ontology/NANDO_2200786 "" "" "" "" "" NANDO:2200796 http://nanbyodata.jp/ontology/NANDO_2200796 "" "" "" "" "" NANDO:2200798 http://nanbyodata.jp/ontology/NANDO_2200798 "" "" "" "" "" NANDO:2200799 http://nanbyodata.jp/ontology/NANDO_2200799 "" "" "" "" "" NANDO:2200800 http://nanbyodata.jp/ontology/NANDO_2200800 "" "" "" "" "" NANDO:2200802 http://nanbyodata.jp/ontology/NANDO_2200802 "" "" "" "" "" NANDO:2200811 http://nanbyodata.jp/ontology/NANDO_2200811 "" "" "" "" "" NANDO:2200838 http://nanbyodata.jp/ontology/NANDO_2200838 "" "" "" "" "" NANDO:2200846 http://nanbyodata.jp/ontology/NANDO_2200846 "" "" "" "" "" NANDO:2200849 http://nanbyodata.jp/ontology/NANDO_2200849 "" "" "" "" "" NANDO:2200863 http://nanbyodata.jp/ontology/NANDO_2200863 "" "" "" "" "" NANDO:2200873 http://nanbyodata.jp/ontology/NANDO_2200873 "" "" "" "" "" NANDO:2200874 http://nanbyodata.jp/ontology/NANDO_2200874 "" "" "" "" "" NANDO:2200882 http://nanbyodata.jp/ontology/NANDO_2200882 "" "" "" "" "" NANDO:2200887 http://nanbyodata.jp/ontology/NANDO_2200887 "" "" "" "" "" NANDO:2200896 http://nanbyodata.jp/ontology/NANDO_2200896 "" "" "" "" "" NANDO:2200907 http://nanbyodata.jp/ontology/NANDO_2200907 "" "" "" "" "" NANDO:2200922 http://nanbyodata.jp/ontology/NANDO_2200922 "" "" "" "" "" NANDO:2200926 http://nanbyodata.jp/ontology/NANDO_2200926 "" "" "" "" "" NANDO:2200932 http://nanbyodata.jp/ontology/NANDO_2200932 "" "" "" "" "" NANDO:2200935 http://nanbyodata.jp/ontology/NANDO_2200935 "" "" "" "" "" NANDO:2200939 http://nanbyodata.jp/ontology/NANDO_2200939 "" "" "" "" "" NANDO:2200940 http://nanbyodata.jp/ontology/NANDO_2200940 "" "" "" "" "" NANDO:2200947 http://nanbyodata.jp/ontology/NANDO_2200947 "" "" "" "" "" NANDO:2200949 http://nanbyodata.jp/ontology/NANDO_2200949 "" "" "" "" "" NANDO:2200966 http://nanbyodata.jp/ontology/NANDO_2200966 "" "" "" "" "" NANDO:2200995 http://nanbyodata.jp/ontology/NANDO_2200995 "" "" "" "" "" NANDO:2201025 http://nanbyodata.jp/ontology/NANDO_2201025 "" "" "" "" "" NANDO:2201028 http://nanbyodata.jp/ontology/NANDO_2201028 "" "" "" "" "" NANDO:2201029 http://nanbyodata.jp/ontology/NANDO_2201029 "" "" "" "" "" NANDO:2201036 http://nanbyodata.jp/ontology/NANDO_2201036 "" "" "" "" "" NANDO:2201037 http://nanbyodata.jp/ontology/NANDO_2201037 "" "" "" "" "" NANDO:2201039 http://nanbyodata.jp/ontology/NANDO_2201039 "" "" "" "" "" NANDO:2201041 http://nanbyodata.jp/ontology/NANDO_2201041 "" "" "" "" "" NANDO:2201043 http://nanbyodata.jp/ontology/NANDO_2201043 "" "" "" "" "" NANDO:2201044 http://nanbyodata.jp/ontology/NANDO_2201044 "" "" "" "" "" NANDO:2201045 http://nanbyodata.jp/ontology/NANDO_2201045 "" "" "" "" "" NANDO:2201046 http://nanbyodata.jp/ontology/NANDO_2201046 "" "" "" "" "" NANDO:2201048 http://nanbyodata.jp/ontology/NANDO_2201048 "" "" "" "" "" NANDO:2201049 http://nanbyodata.jp/ontology/NANDO_2201049 "" "" "" "" "" NANDO:2201051 http://nanbyodata.jp/ontology/NANDO_2201051 "" "" "" "" "" NANDO:2201062 http://nanbyodata.jp/ontology/NANDO_2201062 "" "" "" "" "" NANDO:2201063 http://nanbyodata.jp/ontology/NANDO_2201063 "" "" "" "" "" NANDO:2201064 http://nanbyodata.jp/ontology/NANDO_2201064 "" "" "" "" "" NANDO:2201065 http://nanbyodata.jp/ontology/NANDO_2201065 "" "" "" "" "" NANDO:2201074 http://nanbyodata.jp/ontology/NANDO_2201074 "" "" "" "" "" NANDO:2201076 http://nanbyodata.jp/ontology/NANDO_2201076 "" "" "" "" "" NANDO:2201082 http://nanbyodata.jp/ontology/NANDO_2201082 "" "" "" "" "" NANDO:2201083 http://nanbyodata.jp/ontology/NANDO_2201083 "" "" "" "" "" NANDO:2201085 http://nanbyodata.jp/ontology/NANDO_2201085 "" "" "" "" "" NANDO:2201086 http://nanbyodata.jp/ontology/NANDO_2201086 "" "" "" "" "" NANDO:2201087 http://nanbyodata.jp/ontology/NANDO_2201087 "" "" "" "" "" NANDO:2201088 http://nanbyodata.jp/ontology/NANDO_2201088 "" "" "" "" "" NANDO:2201089 http://nanbyodata.jp/ontology/NANDO_2201089 "" "" "" "" "" NANDO:2201090 http://nanbyodata.jp/ontology/NANDO_2201090 "" "" "" "" "" NANDO:2201091 http://nanbyodata.jp/ontology/NANDO_2201091 "" "" "" "" "" NANDO:2201092 http://nanbyodata.jp/ontology/NANDO_2201092 "" "" "" "" "" NANDO:2201093 http://nanbyodata.jp/ontology/NANDO_2201093 "" "" "" "" "" NANDO:2201096 http://nanbyodata.jp/ontology/NANDO_2201096 "" "" "" "" "" NANDO:2201097 http://nanbyodata.jp/ontology/NANDO_2201097 "" "" "" "" "" NANDO:2201098 http://nanbyodata.jp/ontology/NANDO_2201098 "" "" "" "" "" NANDO:2201099 http://nanbyodata.jp/ontology/NANDO_2201099 "" "" "" "" "" NANDO:2201100 http://nanbyodata.jp/ontology/NANDO_2201100 "" "" "" "" "" NANDO:2201101 http://nanbyodata.jp/ontology/NANDO_2201101 "" "" "" "" "" NANDO:2201102 http://nanbyodata.jp/ontology/NANDO_2201102 "" "" "" "" "" NANDO:2201103 http://nanbyodata.jp/ontology/NANDO_2201103 "" "" "" "" "" NANDO:2201104 http://nanbyodata.jp/ontology/NANDO_2201104 "" "" "" "" "" NANDO:2201112 http://nanbyodata.jp/ontology/NANDO_2201112 "" "" "" "" "" NANDO:2201113 http://nanbyodata.jp/ontology/NANDO_2201113 "" "" "" "" "" NANDO:2201114 http://nanbyodata.jp/ontology/NANDO_2201114 "" "" "" "" "" NANDO:2201115 http://nanbyodata.jp/ontology/NANDO_2201115 "" "" "" "" "" NANDO:2201116 http://nanbyodata.jp/ontology/NANDO_2201116 "" "" "" "" "" NANDO:2201117 http://nanbyodata.jp/ontology/NANDO_2201117 "" "" "" "" "" NANDO:2201118 http://nanbyodata.jp/ontology/NANDO_2201118 "" "" "" "" "" NANDO:2201120 http://nanbyodata.jp/ontology/NANDO_2201120 "" "" "" "" "" NANDO:2201121 http://nanbyodata.jp/ontology/NANDO_2201121 "" "" "" "" "" NANDO:2201122 http://nanbyodata.jp/ontology/NANDO_2201122 "" "" "" "" "" NANDO:2201123 http://nanbyodata.jp/ontology/NANDO_2201123 "" "" "" "" "" NANDO:2201124 http://nanbyodata.jp/ontology/NANDO_2201124 "" "" "" "" "" NANDO:2201125 http://nanbyodata.jp/ontology/NANDO_2201125 "" "" "" "" "" NANDO:2201126 http://nanbyodata.jp/ontology/NANDO_2201126 "" "" "" "" "" NANDO:2201127 http://nanbyodata.jp/ontology/NANDO_2201127 "" "" "" "" "" NANDO:2201128 http://nanbyodata.jp/ontology/NANDO_2201128 "" "" "" "" "" NANDO:2201129 http://nanbyodata.jp/ontology/NANDO_2201129 "" "" "" "" "" NANDO:2201130 http://nanbyodata.jp/ontology/NANDO_2201130 "" "" "" "" "" NANDO:2201131 http://nanbyodata.jp/ontology/NANDO_2201131 "" "" "" "" "" NANDO:2201135 http://nanbyodata.jp/ontology/NANDO_2201135 "" "" "" "" "" NANDO:2201136 http://nanbyodata.jp/ontology/NANDO_2201136 "" "" "" "" "" NANDO:2201137 http://nanbyodata.jp/ontology/NANDO_2201137 "" "" "" "" "" NANDO:2201138 http://nanbyodata.jp/ontology/NANDO_2201138 "" "" "" "" "" NANDO:2201140 http://nanbyodata.jp/ontology/NANDO_2201140 "" "" "" "" "" NANDO:2201141 http://nanbyodata.jp/ontology/NANDO_2201141 "" "" "" "" "" NANDO:2201142 http://nanbyodata.jp/ontology/NANDO_2201142 "" "" "" "" "" NANDO:2201143 http://nanbyodata.jp/ontology/NANDO_2201143 "" "" "" "" "" NANDO:2201144 http://nanbyodata.jp/ontology/NANDO_2201144 "" "" "" "" "" NANDO:2201145 http://nanbyodata.jp/ontology/NANDO_2201145 "" "" "" "" "" NANDO:2201146 http://nanbyodata.jp/ontology/NANDO_2201146 "" "" "" "" "" NANDO:2201148 http://nanbyodata.jp/ontology/NANDO_2201148 "" "" "" "" "" NANDO:2201149 http://nanbyodata.jp/ontology/NANDO_2201149 "" "" "" "" "" NANDO:2201150 http://nanbyodata.jp/ontology/NANDO_2201150 "" "" "" "" "" NANDO:2201155 http://nanbyodata.jp/ontology/NANDO_2201155 "" "" "" "" "" NANDO:2201156 http://nanbyodata.jp/ontology/NANDO_2201156 "" "" "" "" "" NANDO:2201157 http://nanbyodata.jp/ontology/NANDO_2201157 "" "" "" "" "" NANDO:2201158 http://nanbyodata.jp/ontology/NANDO_2201158 "" "" "" "" "" NANDO:2201180 http://nanbyodata.jp/ontology/NANDO_2201180 "" "" "" "" "" NANDO:2201181 http://nanbyodata.jp/ontology/NANDO_2201181 "" "" "" "" "" NANDO:2201182 http://nanbyodata.jp/ontology/NANDO_2201182 "" "" "" "" "" NANDO:2201183 http://nanbyodata.jp/ontology/NANDO_2201183 "" "" "" "" "" NANDO:2201184 http://nanbyodata.jp/ontology/NANDO_2201184 "" "" "" "" "" NANDO:2201185 http://nanbyodata.jp/ontology/NANDO_2201185 "" "" "" "" "" NANDO:2201186 http://nanbyodata.jp/ontology/NANDO_2201186 "" "" "" "" "" NANDO:2201187 http://nanbyodata.jp/ontology/NANDO_2201187 "" "" "" "" "" NANDO:2201194 http://nanbyodata.jp/ontology/NANDO_2201194 "" "" "" "" "" NANDO:2201195 http://nanbyodata.jp/ontology/NANDO_2201195 "" "" "" "" "" NANDO:2201208 http://nanbyodata.jp/ontology/NANDO_2201208 "" "" "" "" "" NANDO:2201213 http://nanbyodata.jp/ontology/NANDO_2201213 "" "" "" "" "" NANDO:2201214 http://nanbyodata.jp/ontology/NANDO_2201214 "" "" "" "" "" NANDO:2201215 http://nanbyodata.jp/ontology/NANDO_2201215 "" "" "" "" "" NANDO:2201217 http://nanbyodata.jp/ontology/NANDO_2201217 "" "" "" "" "" NANDO:2201218 http://nanbyodata.jp/ontology/NANDO_2201218 "" "" "" "" "" NANDO:2201220 http://nanbyodata.jp/ontology/NANDO_2201220 "" "" "" "" "" NANDO:2201221 http://nanbyodata.jp/ontology/NANDO_2201221 "" "" "" "" "" NANDO:2201222 http://nanbyodata.jp/ontology/NANDO_2201222 "" "" "" "" "" NANDO:2201223 http://nanbyodata.jp/ontology/NANDO_2201223 "" "" "" "" "" NANDO:2201224 http://nanbyodata.jp/ontology/NANDO_2201224 "" "" "" "" "" NANDO:2201225 http://nanbyodata.jp/ontology/NANDO_2201225 "" "" "" "" "" NANDO:2201226 http://nanbyodata.jp/ontology/NANDO_2201226 "" "" "" "" "" NANDO:2201230 http://nanbyodata.jp/ontology/NANDO_2201230 "" "" "" "" "" NANDO:2201231 http://nanbyodata.jp/ontology/NANDO_2201231 "" "" "" "" "" NANDO:2201239 http://nanbyodata.jp/ontology/NANDO_2201239 "" "" "" "" "" NANDO:2201240 http://nanbyodata.jp/ontology/NANDO_2201240 "" "" "" "" "" NANDO:2201245 http://nanbyodata.jp/ontology/NANDO_2201245 "" "" "" "" "" NANDO:2201247 http://nanbyodata.jp/ontology/NANDO_2201247 "" "" "" "" "" NANDO:2201249 http://nanbyodata.jp/ontology/NANDO_2201249 "" "" "" "" "" NANDO:2201250 http://nanbyodata.jp/ontology/NANDO_2201250 "" "" "" "" "" NANDO:2201251 http://nanbyodata.jp/ontology/NANDO_2201251 "" "" "" "" "" NANDO:2201252 http://nanbyodata.jp/ontology/NANDO_2201252 "" "" "" "" "" NANDO:2201253 http://nanbyodata.jp/ontology/NANDO_2201253 "" "" "" "" "" NANDO:2201254 http://nanbyodata.jp/ontology/NANDO_2201254 "" "" "" "" "" NANDO:2201271 http://nanbyodata.jp/ontology/NANDO_2201271 "" "" "" "" "" NANDO:2201272 http://nanbyodata.jp/ontology/NANDO_2201272 "" "" "" "" "" NANDO:2201278 http://nanbyodata.jp/ontology/NANDO_2201278 "" "" "" "" "" NANDO:2201284 http://nanbyodata.jp/ontology/NANDO_2201284 "" "" "" "" "" NANDO:2201285 http://nanbyodata.jp/ontology/NANDO_2201285 "" "" "" "" "" NANDO:2201286 http://nanbyodata.jp/ontology/NANDO_2201286 "" "" "" "" "" NANDO:2201302 http://nanbyodata.jp/ontology/NANDO_2201302 "" "" "" "" "" NANDO:2201303 http://nanbyodata.jp/ontology/NANDO_2201303 "" "" "" "" "" NANDO:2201304 http://nanbyodata.jp/ontology/NANDO_2201304 "" "" "" "" "" NANDO:2201306 http://nanbyodata.jp/ontology/NANDO_2201306 "" "" "" "" "" NANDO:2201307 http://nanbyodata.jp/ontology/NANDO_2201307 "" "" "" "" "" NANDO:2201308 http://nanbyodata.jp/ontology/NANDO_2201308 "" "" "" "" "" NANDO:2201309 http://nanbyodata.jp/ontology/NANDO_2201309 "" "" "" "" "" NANDO:2201310 http://nanbyodata.jp/ontology/NANDO_2201310 "" "" "" "" "" NANDO:2201311 http://nanbyodata.jp/ontology/NANDO_2201311 "" "" "" "" "" NANDO:2201312 http://nanbyodata.jp/ontology/NANDO_2201312 "" "" "" "" "" NANDO:2201313 http://nanbyodata.jp/ontology/NANDO_2201313 "" "" "" "" "" NANDO:2201314 http://nanbyodata.jp/ontology/NANDO_2201314 "" "" "" "" "" NANDO:2201315 http://nanbyodata.jp/ontology/NANDO_2201315 "" "" "" "" "" NANDO:2201316 http://nanbyodata.jp/ontology/NANDO_2201316 "" "" "" "" "" NANDO:2201318 http://nanbyodata.jp/ontology/NANDO_2201318 "" "" "" "" "" NANDO:2201323 http://nanbyodata.jp/ontology/NANDO_2201323 "" "" "" "" "" NANDO:2201324 http://nanbyodata.jp/ontology/NANDO_2201324 "" "" "" "" "" NANDO:2201325 http://nanbyodata.jp/ontology/NANDO_2201325 "" "" "" "" "" NANDO:2201326 http://nanbyodata.jp/ontology/NANDO_2201326 "" "" "" "" "" NANDO:2201327 http://nanbyodata.jp/ontology/NANDO_2201327 "" "" "" "" "" NANDO:2201328 http://nanbyodata.jp/ontology/NANDO_2201328 "" "" "" "" "" NANDO:2201329 http://nanbyodata.jp/ontology/NANDO_2201329 "" "" "" "" "" NANDO:2201330 http://nanbyodata.jp/ontology/NANDO_2201330 "" "" "" "" "" NANDO:2201331 http://nanbyodata.jp/ontology/NANDO_2201331 "" "" "" "" "" NANDO:2201332 http://nanbyodata.jp/ontology/NANDO_2201332 "" "" "" "" "" NANDO:2201333 http://nanbyodata.jp/ontology/NANDO_2201333 "" "" "" "" "" NANDO:2201334 http://nanbyodata.jp/ontology/NANDO_2201334 "" "" "" "" "" NANDO:2201335 http://nanbyodata.jp/ontology/NANDO_2201335 "" "" "" "" "" NANDO:2201336 http://nanbyodata.jp/ontology/NANDO_2201336 "" "" "" "" "" NANDO:2201337 http://nanbyodata.jp/ontology/NANDO_2201337 "" "" "" "" "" NANDO:2201338 http://nanbyodata.jp/ontology/NANDO_2201338 "" "" "" "" "" NANDO:2201339 http://nanbyodata.jp/ontology/NANDO_2201339 "" "" "" "" "" NANDO:2201340 http://nanbyodata.jp/ontology/NANDO_2201340 "" "" "" "" "" NANDO:2201343 http://nanbyodata.jp/ontology/NANDO_2201343 "" "" "" "" "" NANDO:2201344 http://nanbyodata.jp/ontology/NANDO_2201344 "" "" "" "" "" NANDO:2201355 http://nanbyodata.jp/ontology/NANDO_2201355 "" "" "" "" "" NANDO:2201358 http://nanbyodata.jp/ontology/NANDO_2201358 "" "" "" "" "" NANDO:2201363 http://nanbyodata.jp/ontology/NANDO_2201363 "" "" "" "" "" NANDO:2201370 http://nanbyodata.jp/ontology/NANDO_2201370 "" "" "" "" "" NANDO:2201371 http://nanbyodata.jp/ontology/NANDO_2201371 "" "" "" "" "" NANDO:2201372 http://nanbyodata.jp/ontology/NANDO_2201372 "" "" "" "" "" NANDO:2201373 http://nanbyodata.jp/ontology/NANDO_2201373 "" "" "" "" "" NANDO:2201374 http://nanbyodata.jp/ontology/NANDO_2201374 "" "" "" "" "" NANDO:2201377 http://nanbyodata.jp/ontology/NANDO_2201377 "" "" "" "" "" NANDO:2201381 http://nanbyodata.jp/ontology/NANDO_2201381 "" "" "" "" "" NANDO:2201382 http://nanbyodata.jp/ontology/NANDO_2201382 "" "" "" "" "" NANDO:2201384 http://nanbyodata.jp/ontology/NANDO_2201384 "" "" "" "" "" NANDO:2201387 http://nanbyodata.jp/ontology/NANDO_2201387 "" "" "" "" "" NANDO:2201402 http://nanbyodata.jp/ontology/NANDO_2201402 "" "" "" "" "" NANDO:2201403 http://nanbyodata.jp/ontology/NANDO_2201403 "" "" "" "" "" NANDO:2201405 http://nanbyodata.jp/ontology/NANDO_2201405 "" "" "" "" "" NANDO:2201407 http://nanbyodata.jp/ontology/NANDO_2201407 "" "" "" "" "" NANDO:2201412 http://nanbyodata.jp/ontology/NANDO_2201412 "" "" "" "" "" NANDO:2201413 http://nanbyodata.jp/ontology/NANDO_2201413 "" "" "" "" "" NANDO:2201415 http://nanbyodata.jp/ontology/NANDO_2201415 "" "" "" "" "" NANDO:2201423 http://nanbyodata.jp/ontology/NANDO_2201423 "" "" "" "" "" NANDO:2201424 http://nanbyodata.jp/ontology/NANDO_2201424 "" "" "" "" "" NANDO:2201425 http://nanbyodata.jp/ontology/NANDO_2201425 "" "" "" "" "" NANDO:2201448 http://nanbyodata.jp/ontology/NANDO_2201448 "" "" "" "" "" NANDO:2201449 http://nanbyodata.jp/ontology/NANDO_2201449 "" "" "" "" "" NANDO:2201450 http://nanbyodata.jp/ontology/NANDO_2201450 "" "" "" "" "" NANDO:2201451 http://nanbyodata.jp/ontology/NANDO_2201451 "" "" "" "" "" NANDO:2201456 http://nanbyodata.jp/ontology/NANDO_2201456 "" "" "" "" "" NANDO:2201469 http://nanbyodata.jp/ontology/NANDO_2201469 "" "" "" "" "" NANDO:2201471 http://nanbyodata.jp/ontology/NANDO_2201471 "" "" "" "" "" NANDO:2201472 http://nanbyodata.jp/ontology/NANDO_2201472 "" "" "" "" "" NANDO:2201473 http://nanbyodata.jp/ontology/NANDO_2201473 "" "" "" "" "" NANDO:2201474 http://nanbyodata.jp/ontology/NANDO_2201474 "" "" "" "" "" NANDO:2201478 http://nanbyodata.jp/ontology/NANDO_2201478 "" "" "" "" "" NANDO:2201481 http://nanbyodata.jp/ontology/NANDO_2201481 "" "" "" "" "" NANDO:2201482 http://nanbyodata.jp/ontology/NANDO_2201482 "" "" "" "" "" NANDO:2201483 http://nanbyodata.jp/ontology/NANDO_2201483 "" "" "" "" "" NANDO:2201484 http://nanbyodata.jp/ontology/NANDO_2201484 "" "" "" "" "" NANDO:2201485 http://nanbyodata.jp/ontology/NANDO_2201485 "" "" "" "" "" NANDO:2201486 http://nanbyodata.jp/ontology/NANDO_2201486 "" "" "" "" "" NANDO:3000001 http://nanbyodata.jp/ontology/NANDO_3000001 "" "" "" "" "" NANDO:3000002 http://nanbyodata.jp/ontology/NANDO_3000002 "" "" "" "" "" NANDO:3000003 http://nanbyodata.jp/ontology/NANDO_3000003 "" "" "" "" "" NANDO:3000004 http://nanbyodata.jp/ontology/NANDO_3000004 "" "" "" "" "" NANDO:3000005 http://nanbyodata.jp/ontology/NANDO_3000005 "" "" "" "" "" NANDO:3000006 http://nanbyodata.jp/ontology/NANDO_3000006 "" "" "" "" "" NANDO:2100307 http://nanbyodata.jp/ontology/NANDO_2100307 MONDO:0000995 http://www.w3.org/2004/02/skos/core#exactMatch 家族性周期性四肢麻痺 familial periodic paralysis https://monarchinitiative.org/MONDO:0000995 NANDO:2201512 http://nanbyodata.jp/ontology/NANDO_2201512 MONDO:0008195 http://www.w3.org/2004/02/skos/core#exactMatch Von Eulenburg先天性パラミオトニア paramyotonia congenita of Von Eulenburg https://monarchinitiative.org/MONDO:0008195 NANDO:2201515 http://nanbyodata.jp/ontology/NANDO_2201515 MONDO:0008223 http://www.w3.org/2004/02/skos/core#exactMatch 低カリウム性周期性四肢麻痺 hypokalemic periodic paralysis https://monarchinitiative.org/MONDO:0008223 NANDO:2201514 http://nanbyodata.jp/ontology/NANDO_2201514 MONDO:0008224 http://www.w3.org/2004/02/skos/core#exactMatch 高カリウム性周期性四肢麻痺 hyperkalemic periodic paralysis https://monarchinitiative.org/MONDO:0008224 NANDO:1201109 http://nanbyodata.jp/ontology/NANDO_1201109 MONDO:0008723 http://www.w3.org/2004/02/skos/core#exactMatch 極長鎖アシルCoA脱水素酵素欠損症 very long chain acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008723 NANDO:2201530 http://nanbyodata.jp/ontology/NANDO_2201530 MONDO:0009039 http://www.w3.org/2004/02/skos/core#exactMatch バラー・ゲロルト症候群 Baller-Gerold syndrome https://monarchinitiative.org/MONDO:0009039 NANDO:2201509 http://nanbyodata.jp/ontology/NANDO_2201509 MONDO:0009710 http://www.w3.org/2004/02/skos/core#exactMatch トムゼン・ベッカー病 Thomsen and Becker disease https://monarchinitiative.org/MONDO:0009710 NANDO:2201511 http://nanbyodata.jp/ontology/NANDO_2201511 MONDO:0009715 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオトニー, 常染色体潜性 myotonia congenita, autosomal recessive https://monarchinitiative.org/MONDO:0009715 NANDO:1201114 http://nanbyodata.jp/ontology/NANDO_1201114 MONDO:0009883 http://www.w3.org/2004/02/skos/core#exactMatch α2プラスミンインヒビター欠損症 alpha-2-plasmin inhibitor deficiency https://monarchinitiative.org/MONDO:0009883 NANDO:2201531 http://nanbyodata.jp/ontology/NANDO_2201531 MONDO:0009955 http://www.w3.org/2004/02/skos/core#exactMatch ラパデリノ症候群 rapadilino syndrome https://monarchinitiative.org/MONDO:0009955 NANDO:2201527 http://nanbyodata.jp/ontology/NANDO_2201527 MONDO:0010002 http://www.w3.org/2004/02/skos/core#exactMatch ロスムンド・トムソン症候群 Rothmund-Thomson syndrome https://monarchinitiative.org/MONDO:0010002 NANDO:1201116 http://nanbyodata.jp/ontology/NANDO_1201116 MONDO:0010645 http://www.w3.org/2004/02/skos/core#exactMatch 眼腎脳症候群 oculocerebrorenal syndrome https://monarchinitiative.org/MONDO:0010645 NANDO:1201113 http://nanbyodata.jp/ontology/NANDO_1201113 MONDO:0013227 http://www.w3.org/2004/02/skos/core#exactMatch 先天性プラスミノゲンアクチベータインヒビター1欠乏症 congenital plasminogen activator inhibitor type 1 deficiency https://monarchinitiative.org/MONDO:0013227 NANDO:2201499 http://nanbyodata.jp/ontology/NANDO_2201499 MONDO:0017096 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ia型 isolated focal cortical dysplasia type Ia https://monarchinitiative.org/MONDO:0017096 NANDO:2201500 http://nanbyodata.jp/ontology/NANDO_2201500 MONDO:0017097 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ib型 isolated focal cortical dysplasia type Ib https://monarchinitiative.org/MONDO:0017097 NANDO:2201501 http://nanbyodata.jp/ontology/NANDO_2201501 MONDO:0017098 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ic型 isolated focal cortical dysplasia type Ic https://monarchinitiative.org/MONDO:0017098 NANDO:2201502 http://nanbyodata.jp/ontology/NANDO_2201502 MONDO:0017101 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成IIa型 isolated focal cortical dysplasia type IIa https://monarchinitiative.org/MONDO:0017101 NANDO:2201503 http://nanbyodata.jp/ontology/NANDO_2201503 MONDO:0017102 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成IIb型 isolated focal cortical dysplasia type IIb https://monarchinitiative.org/MONDO:0017102 NANDO:2201488 http://nanbyodata.jp/ontology/NANDO_2201488 MONDO:0017987 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄空洞症 syringomyelia https://monarchinitiative.org/MONDO:0017987 NANDO:2201513 http://nanbyodata.jp/ontology/NANDO_2201513 MONDO:0018959 http://www.w3.org/2004/02/skos/core#exactMatch カリウム惹起性ミオトニー potassium-aggravated myotonia https://monarchinitiative.org/MONDO:0018959 NANDO:2201498 http://nanbyodata.jp/ontology/NANDO_2201498 MONDO:0019009 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成 isolated focal cortical dysplasia https://monarchinitiative.org/MONDO:0019009 NANDO:2201526 http://nanbyodata.jp/ontology/NANDO_2201526 MONDO:0002457 http://www.w3.org/2004/02/skos/core#exactMatch トリーチャー・コリンズ症候群 Treacher-Collins syndrome https://monarchinitiative.org/MONDO:0002457 NANDO:2201510 http://nanbyodata.jp/ontology/NANDO_2201510 MONDO:0008055 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオトニー, 常染色体顕性 myotonia congenita, autosomal dominant https://monarchinitiative.org/MONDO:0008055 NANDO:1201107 http://nanbyodata.jp/ontology/NANDO_1201107 MONDO:0008215 http://www.w3.org/2004/02/skos/core#exactMatch 成人発症常染色体顕性脱髄性白質ジストロフィー adult-onset autosomal dominant demyelinating leukodystrophy https://monarchinitiative.org/MONDO:0008215 NANDO:2201516 http://nanbyodata.jp/ontology/NANDO_2201516 MONDO:0008222 http://www.w3.org/2004/02/skos/core#exactMatch アンデルセン・タウィル症候群 Andersen-Tawil syndrome https://monarchinitiative.org/MONDO:0008222 NANDO:1201117 http://nanbyodata.jp/ontology/NANDO_1201117 MONDO:0008222 http://www.w3.org/2004/02/skos/core#exactMatch アンデルセン・タウィル症候群 Andersen-Tawil syndrome https://monarchinitiative.org/MONDO:0008222 NANDO:2201517 http://nanbyodata.jp/ontology/NANDO_2201517 MONDO:0008586 http://www.w3.org/2004/02/skos/core#exactMatch 食道閉鎖および/または気管食道瘻 esophageal atresia/tracheoesophageal fistula https://monarchinitiative.org/MONDO:0008586 NANDO:2201523 http://nanbyodata.jp/ontology/NANDO_2201523 MONDO:0016779 http://www.w3.org/2004/02/skos/core#exactMatch 14q32.2母性発現遺伝子欠損による多発性先天異常 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect https://monarchinitiative.org/MONDO:0016779 NANDO:1201115 http://nanbyodata.jp/ontology/NANDO_1201115 MONDO:0013775 http://www.w3.org/2004/02/skos/core#closeMatch 血栓嗜好症, thrombomodulin 障害による thrombomodulin-related bleeding disorder https://monarchinitiative.org/MONDO:0013775 NANDO:2201525 http://nanbyodata.jp/ontology/NANDO_2201525 MONDO:0014243 http://www.w3.org/2004/02/skos/core#exactMatch Shaaf-Yang 症候群 Schaaf-Yang syndrome https://monarchinitiative.org/MONDO:0014243 NANDO:2201524 http://nanbyodata.jp/ontology/NANDO_2201524 MONDO:0014358 http://www.w3.org/2004/02/skos/core#exactMatch Xia-Gibbs 症候群 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome https://monarchinitiative.org/MONDO:0014358 NANDO:2201487 http://nanbyodata.jp/ontology/NANDO_2201487 MONDO:0014405 http://www.w3.org/2004/02/skos/core#exactMatch 乳児期に発症したSTING関連血管症 STING-associated vasculopathy with onset in infancy https://monarchinitiative.org/MONDO:0014405 NANDO:1201110 http://nanbyodata.jp/ontology/NANDO_1201110 MONDO:0014405 http://www.w3.org/2004/02/skos/core#exactMatch 乳児期に発症したSTING関連血管症 STING-associated vasculopathy with onset in infancy https://monarchinitiative.org/MONDO:0014405 NANDO:1201108 http://nanbyodata.jp/ontology/NANDO_1201108 MONDO:0014512 http://www.w3.org/2004/02/skos/core#exactMatch 精神遅滞, 常染色体劣性31 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation https://monarchinitiative.org/MONDO:0014512 NANDO:2201528 http://nanbyodata.jp/ontology/NANDO_2201528 MONDO:0016368 http://www.w3.org/2004/02/skos/core#exactMatch ロスムンド・トムソン症候群1型 Rothmund-Thomson syndrome type 1 https://monarchinitiative.org/MONDO:0016368 NANDO:2201529 http://nanbyodata.jp/ontology/NANDO_2201529 MONDO:0016369 http://www.w3.org/2004/02/skos/core#exactMatch ロスムンド・トムソン症候群2型 Rothmund-Thomson syndrome type 2 https://monarchinitiative.org/MONDO:0016369 NANDO:2201533 http://nanbyodata.jp/ontology/NANDO_2201533 MONDO:0020509 http://www.w3.org/2004/02/skos/core#exactMatch 二次性脊髄空洞症 secondary syringomyelia https://monarchinitiative.org/MONDO:0020509 NANDO:1201112 http://nanbyodata.jp/ontology/NANDO_1201112 "" "" "" "" "" NANDO:1201111 http://nanbyodata.jp/ontology/NANDO_1201111 "" "" "" "" "" NANDO:2100305 http://nanbyodata.jp/ontology/NANDO_2100305 "" "" "" "" "" NANDO:2100306 http://nanbyodata.jp/ontology/NANDO_2100306 "" "" "" "" "" NANDO:2100308 http://nanbyodata.jp/ontology/NANDO_2100308 "" "" "" "" "" NANDO:2100309 http://nanbyodata.jp/ontology/NANDO_2100309 "" "" "" "" "" NANDO:2201489 http://nanbyodata.jp/ontology/NANDO_2201489 "" "" "" "" "" NANDO:2201490 http://nanbyodata.jp/ontology/NANDO_2201490 "" "" "" "" "" NANDO:2201491 http://nanbyodata.jp/ontology/NANDO_2201491 "" "" "" "" "" NANDO:2201492 http://nanbyodata.jp/ontology/NANDO_2201492 "" "" "" "" "" NANDO:2201493 http://nanbyodata.jp/ontology/NANDO_2201493 "" "" "" "" "" NANDO:2201494 http://nanbyodata.jp/ontology/NANDO_2201494 "" "" "" "" "" NANDO:2201495 http://nanbyodata.jp/ontology/NANDO_2201495 "" "" "" "" "" NANDO:2201496 http://nanbyodata.jp/ontology/NANDO_2201496 "" "" "" "" "" NANDO:2201497 http://nanbyodata.jp/ontology/NANDO_2201497 "" "" "" "" "" NANDO:2201504 http://nanbyodata.jp/ontology/NANDO_2201504 "" "" "" "" "" NANDO:2201505 http://nanbyodata.jp/ontology/NANDO_2201505 "" "" "" "" "" NANDO:2201506 http://nanbyodata.jp/ontology/NANDO_2201506 "" "" "" "" "" NANDO:2201507 http://nanbyodata.jp/ontology/NANDO_2201507 "" "" "" "" "" NANDO:2201508 http://nanbyodata.jp/ontology/NANDO_2201508 "" "" "" "" "" NANDO:2201518 http://nanbyodata.jp/ontology/NANDO_2201518 "" "" "" "" "" NANDO:2201519 http://nanbyodata.jp/ontology/NANDO_2201519 "" "" "" "" "" NANDO:2201520 http://nanbyodata.jp/ontology/NANDO_2201520 "" "" "" "" "" NANDO:2201521 http://nanbyodata.jp/ontology/NANDO_2201521 "" "" "" "" "" NANDO:2201522 http://nanbyodata.jp/ontology/NANDO_2201522 "" "" "" "" "" NANDO:2201532 http://nanbyodata.jp/ontology/NANDO_2201532 "" "" "" "" "" NANDO:1201120 http://nanbyodata.jp/ontology/NANDO_1201120 MONDO:0007803 http://www.w3.org/2004/02/skos/core#closeMatch 多系統萎縮症 multiple system atrophy https://monarchinitiative.org/MONDO:0007803 NANDO:1201158 http://nanbyodata.jp/ontology/NANDO_1201158 MONDO:0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome https://monarchinitiative.org/MONDO:0007947 NANDO:1201132 http://nanbyodata.jp/ontology/NANDO_1201132 MONDO:0008054 http://www.w3.org/2004/02/skos/core#exactMatch 若年性皮膚筋炎 juvenile dermatomyositis https://monarchinitiative.org/MONDO:0008054 NANDO:1201150 http://nanbyodata.jp/ontology/NANDO_1201150 MONDO:0010476 http://www.w3.org/2004/02/skos/core#exactMatch 脳内に鉄沈着を伴う神経変性症5型 neurodegeneration with brain iron accumulation 5 https://monarchinitiative.org/MONDO:0010476 NANDO:1201175 http://nanbyodata.jp/ontology/NANDO_1201175 MONDO:0010598 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXa1 glycogen storage disease IXa1 https://monarchinitiative.org/MONDO:0010598 NANDO:1201152 http://nanbyodata.jp/ontology/NANDO_1201152 MONDO:0011426 http://www.w3.org/2004/02/skos/core#exactMatch NBIA4 aceruloplasminemia https://monarchinitiative.org/MONDO:0011426 NANDO:1201159 http://nanbyodata.jp/ontology/NANDO_1201159 MONDO:0018954 http://www.w3.org/2004/02/skos/core#exactMatch ロイス・ディーツ症候群 Loeys-Dietz syndrome https://monarchinitiative.org/MONDO:0018954 NANDO:1201121 http://nanbyodata.jp/ontology/NANDO_1201121 MONDO:0019438 http://www.w3.org/2004/02/skos/core#exactMatch ALミロイドーシス AL amyloidosis https://monarchinitiative.org/MONDO:0019438 NANDO:1201133 http://nanbyodata.jp/ontology/NANDO_1201133 MONDO:0019734 http://www.w3.org/2004/02/skos/core#exactMatch 若年性多発性筋炎 juvenile polymyositis https://monarchinitiative.org/MONDO:0019734 NANDO:1201155 http://nanbyodata.jp/ontology/NANDO_1201155 MONDO:0024457 http://www.w3.org/2004/02/skos/core#exactMatch 脳内に鉄沈着を伴う神経変性症2A型 neurodegeneration with brain iron accumulation 2A https://monarchinitiative.org/MONDO:0024457 NANDO:1201165 http://nanbyodata.jp/ontology/NANDO_1201165 MONDO:0008998 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群3型 Cockayne syndrome type 3 https://monarchinitiative.org/MONDO:0008998 NANDO:1201154 http://nanbyodata.jp/ontology/NANDO_1201154 MONDO:0009419 http://www.w3.org/2004/02/skos/core#exactMatch Woodhouse-Sakati症候群 Woodhouse-Sakati syndrome https://monarchinitiative.org/MONDO:0009419 NANDO:1201166 http://nanbyodata.jp/ontology/NANDO_1201166 MONDO:0016354 http://www.w3.org/2004/02/skos/core#exactMatch 色素性乾皮症-コケイン症候群合併型 xeroderma pigmentosum-Cockayne syndrome complex https://monarchinitiative.org/MONDO:0016354 NANDO:1201153 http://nanbyodata.jp/ontology/NANDO_1201153 MONDO:0011706 http://www.w3.org/2004/02/skos/core#exactMatch クフォー・ラケブ症候群 Kufor-Rakeb syndrome https://monarchinitiative.org/MONDO:0011706 NANDO:1201156 http://nanbyodata.jp/ontology/NANDO_1201156 MONDO:0012444 http://www.w3.org/2004/02/skos/core#exactMatch NBIA2b neurodegeneration with brain iron accumulation 2B https://monarchinitiative.org/MONDO:0012444 NANDO:1201143 http://nanbyodata.jp/ontology/NANDO_1201143 MONDO:0014019 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア24 dystonia 24 https://monarchinitiative.org/MONDO:0014019 NANDO:1201144 http://nanbyodata.jp/ontology/NANDO_1201144 MONDO:0014033 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア25 dystonia 25 https://monarchinitiative.org/MONDO:0014033 NANDO:1201151 http://nanbyodata.jp/ontology/NANDO_1201151 MONDO:0014290 http://www.w3.org/2004/02/skos/core#exactMatch 脳内に鉄沈着を伴う神経変性症6型 neurodegeneration with brain iron accumulation 6 https://monarchinitiative.org/MONDO:0014290 NANDO:1201145 http://nanbyodata.jp/ontology/NANDO_1201145 MONDO:0014620 http://www.w3.org/2004/02/skos/core#exactMatch ミオクローヌス・ジストニア26 myoclonic dystonia 26 https://monarchinitiative.org/MONDO:0014620 NANDO:1201146 http://nanbyodata.jp/ontology/NANDO_1201146 MONDO:0014627 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア27 dystonia 27 https://monarchinitiative.org/MONDO:0014627 NANDO:1201148 http://nanbyodata.jp/ontology/NANDO_1201148 MONDO:0015003 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア, 小児期発症, 視神経萎縮および基底核異常を伴う dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities https://monarchinitiative.org/MONDO:0015003 NANDO:1201147 http://nanbyodata.jp/ontology/NANDO_1201147 MONDO:0015004 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア28, 小児期発症 dystonia 28, childhood-onset https://monarchinitiative.org/MONDO:0015004 NANDO:1201125 http://nanbyodata.jp/ontology/NANDO_1201125 MONDO:0016533 http://www.w3.org/2004/02/skos/core#exactMatch アポリポ蛋白A-IIアミロイドーシス apolipoprotein A-II amyloidosis https://monarchinitiative.org/MONDO:0016533 NANDO:1201122 http://nanbyodata.jp/ontology/NANDO_1201122 MONDO:0018613 http://www.w3.org/2004/02/skos/core#exactMatch AHアミロイドーシス AH amyloidosis https://monarchinitiative.org/MONDO:0018613 NANDO:1201174 http://nanbyodata.jp/ontology/NANDO_1201174 MONDO:0018804 http://www.w3.org/2004/02/skos/core#exactMatch MYO5B関連進行性家族性肝内胆汁うっ滞 MYO5B-related progressive familial intrahepatic cholestasis https://monarchinitiative.org/MONDO:0018804 NANDO:1201163 http://nanbyodata.jp/ontology/NANDO_1201163 MONDO:0019569 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群1型 Cockayne syndrome type 1 https://monarchinitiative.org/MONDO:0019569 NANDO:1201164 http://nanbyodata.jp/ontology/NANDO_1201164 MONDO:0019570 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群2型 Cockayne syndrome type 2 https://monarchinitiative.org/MONDO:0019570 NANDO:1201160 http://nanbyodata.jp/ontology/NANDO_1201160 MONDO:0019659 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群1型 Pfeiffer syndrome type 1 https://monarchinitiative.org/MONDO:0019659 NANDO:1201161 http://nanbyodata.jp/ontology/NANDO_1201161 MONDO:0019660 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群2型 Pfeiffer syndrome type 2 https://monarchinitiative.org/MONDO:0019660 NANDO:1201162 http://nanbyodata.jp/ontology/NANDO_1201162 MONDO:0019661 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群3型 Pfeiffer syndrome type 3 https://monarchinitiative.org/MONDO:0019661 NANDO:1201149 http://nanbyodata.jp/ontology/NANDO_1201149 MONDO:0025691 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア30 dystonia 30 https://monarchinitiative.org/MONDO:0025691 NANDO:1201118 http://nanbyodata.jp/ontology/NANDO_1201118 MONDO:0003122 http://www.w3.org/2004/02/skos/core#exactMatch "" striatonigral degeneration https://monarchinitiative.org/MONDO:0003122 NANDO:1201119 http://nanbyodata.jp/ontology/NANDO_1201119 MONDO:0002017 http://www.w3.org/2004/02/skos/core#exactMatch "" olivopontocerebellar atrophy https://monarchinitiative.org/MONDO:0002017 NANDO:1201169 http://nanbyodata.jp/ontology/NANDO_1201169 MONDO:0100257 http://www.w3.org/2004/02/skos/core#exactMatch "" peroxisomal single enzyme/protein defect https://monarchinitiative.org/MONDO:0100257 NANDO:1201123 http://nanbyodata.jp/ontology/NANDO_1201123 "" "" "" "" "" NANDO:1201124 http://nanbyodata.jp/ontology/NANDO_1201124 "" "" "" "" "" NANDO:1201126 http://nanbyodata.jp/ontology/NANDO_1201126 "" "" "" "" "" NANDO:1201127 http://nanbyodata.jp/ontology/NANDO_1201127 "" "" "" "" "" NANDO:1201128 http://nanbyodata.jp/ontology/NANDO_1201128 "" "" "" "" "" NANDO:1201129 http://nanbyodata.jp/ontology/NANDO_1201129 "" "" "" "" "" NANDO:1201130 http://nanbyodata.jp/ontology/NANDO_1201130 "" "" "" "" "" NANDO:1201131 http://nanbyodata.jp/ontology/NANDO_1201131 "" "" "" "" "" NANDO:1201134 http://nanbyodata.jp/ontology/NANDO_1201134 "" "" "" "" "" NANDO:1201135 http://nanbyodata.jp/ontology/NANDO_1201135 "" "" "" "" "" NANDO:1201136 http://nanbyodata.jp/ontology/NANDO_1201136 "" "" "" "" "" NANDO:1201137 http://nanbyodata.jp/ontology/NANDO_1201137 "" "" "" "" "" NANDO:1201138 http://nanbyodata.jp/ontology/NANDO_1201138 "" "" "" "" "" NANDO:1201139 http://nanbyodata.jp/ontology/NANDO_1201139 "" "" "" "" "" NANDO:1201140 http://nanbyodata.jp/ontology/NANDO_1201140 "" "" "" "" "" NANDO:1201141 http://nanbyodata.jp/ontology/NANDO_1201141 "" "" "" "" "" NANDO:1201142 http://nanbyodata.jp/ontology/NANDO_1201142 "" "" "" "" "" NANDO:1201157 http://nanbyodata.jp/ontology/NANDO_1201157 "" "" "" "" "" NANDO:1201167 http://nanbyodata.jp/ontology/NANDO_1201167 "" "" "" "" "" NANDO:1201168 http://nanbyodata.jp/ontology/NANDO_1201168 "" "" "" "" "" NANDO:1201170 http://nanbyodata.jp/ontology/NANDO_1201170 "" "" "" "" "" NANDO:1201171 http://nanbyodata.jp/ontology/NANDO_1201171 "" "" "" "" "" NANDO:1201172 http://nanbyodata.jp/ontology/NANDO_1201172 "" "" "" "" "" NANDO:1201173 http://nanbyodata.jp/ontology/NANDO_1201173 "" "" "" "" "" NANDO:2100256 http://nanbyodata.jp/ontology/NANDO_2100256 "" "" "" "" ""