nando_id nandoUri mondo_id mondoUri property mondo_label_ja mondo_label_en orphanetid orphaneturi NANDO:1200037 http://nanbyodata.jp/ontology/NANDO_1200037 MONDO:0000437 http://purl.obolibrary.org/obo/MONDO_0000437 http://www.w3.org/2004/02/skos/core#exactMatch 小脳性運動失調 cerebellar ataxia Orphanet:102002 https://www.orpha.net/en/disease/detail/102002 NANDO:1200055 http://nanbyodata.jp/ontology/NANDO_1200055 MONDO:0002561 http://purl.obolibrary.org/obo/MONDO_0002561 http://www.w3.org/2004/02/skos/core#exactMatch ライソゾーム病 lysosomal storage disease Orphanet:68366 https://www.orpha.net/en/disease/detail/68366 NANDO:1200002 http://nanbyodata.jp/ontology/NANDO_1200002 MONDO:0004976 http://purl.obolibrary.org/obo/MONDO_0004976 http://www.w3.org/2004/02/skos/core#exactMatch 筋萎縮性側索硬化症 amyotrophic lateral sclerosis Orphanet:803 https://www.orpha.net/en/disease/detail/803 NANDO:1100006 http://nanbyodata.jp/ontology/NANDO_1100006 MONDO:0005570 http://purl.obolibrary.org/obo/MONDO_0005570 http://www.w3.org/2004/02/skos/core#exactMatch 血液障害 hematologic disorder Orphanet:97992 https://www.orpha.net/en/disease/detail/97992 NANDO:1200030 http://nanbyodata.jp/ontology/NANDO_1200030 MONDO:0006702 http://purl.obolibrary.org/obo/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 Orphanet:2932 https://www.orpha.net/en/disease/detail/2932 NANDO:1200041 http://nanbyodata.jp/ontology/NANDO_1200041 MONDO:0007182 http://purl.obolibrary.org/obo/MONDO_0007182 http://www.w3.org/2004/02/skos/core#exactMatch マカド-ジョセフ病 Machado-Joseph disease Orphanet:98757 https://www.orpha.net/en/disease/detail/98757 NANDO:1200044 http://nanbyodata.jp/ontology/NANDO_1200044 MONDO:0007296 http://purl.obolibrary.org/obo/MONDO_0007296 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症31型 spinocerebellar ataxia type 31 Orphanet:217012 https://www.orpha.net/en/disease/detail/217012 NANDO:1200043 http://nanbyodata.jp/ontology/NANDO_1200043 MONDO:0007435 http://purl.obolibrary.org/obo/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 Orphanet:101 https://www.orpha.net/en/disease/detail/101 NANDO:1200012 http://nanbyodata.jp/ontology/NANDO_1200012 MONDO:0007739 http://purl.obolibrary.org/obo/MONDO_0007739 http://www.w3.org/2004/02/skos/core#exactMatch ハンチントン病 Huntington disease Orphanet:399 https://www.orpha.net/en/disease/detail/399 NANDO:1200034 http://nanbyodata.jp/ontology/NANDO_1200034 MONDO:0007803 http://purl.obolibrary.org/obo/MONDO_0007803 http://www.w3.org/2004/02/skos/core#exactMatch 多系統萎縮症 multiple system atrophy Orphanet:102 https://www.orpha.net/en/disease/detail/102 NANDO:1200032 http://nanbyodata.jp/ontology/NANDO_1200032 MONDO:0007827 http://purl.obolibrary.org/obo/MONDO_0007827 http://www.w3.org/2004/02/skos/core#exactMatch 封入体筋炎 inclusion body myositis Orphanet:611 https://www.orpha.net/en/disease/detail/611 NANDO:1200045 http://nanbyodata.jp/ontology/NANDO_1200045 MONDO:0008119 http://purl.obolibrary.org/obo/MONDO_0008119 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症1型 spinocerebellar ataxia type 1 Orphanet:98755 https://www.orpha.net/en/disease/detail/98755 NANDO:1200042 http://nanbyodata.jp/ontology/NANDO_1200042 MONDO:0008457 http://purl.obolibrary.org/obo/MONDO_0008457 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症6型 spinocerebellar ataxia type 6 Orphanet:98758 https://www.orpha.net/en/disease/detail/98758 NANDO:1200046 http://nanbyodata.jp/ontology/NANDO_1200046 MONDO:0008458 http://purl.obolibrary.org/obo/MONDO_0008458 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症2型 spinocerebellar ataxia type 2 Orphanet:98756 https://www.orpha.net/en/disease/detail/98756 NANDO:1200014 http://nanbyodata.jp/ontology/NANDO_1200014 MONDO:0008695 http://purl.obolibrary.org/obo/MONDO_0008695 http://www.w3.org/2004/02/skos/core#exactMatch 舞踏病-有棘赤血球症 chorea-acanthocytosis Orphanet:2388 https://www.orpha.net/en/disease/detail/2388 NANDO:1200051 http://nanbyodata.jp/ontology/NANDO_1200051 MONDO:0008842 http://purl.obolibrary.org/obo/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 Orphanet:1168 https://www.orpha.net/en/disease/detail/1168 NANDO:1200067 http://nanbyodata.jp/ontology/NANDO_1200067 MONDO:0009260 http://purl.obolibrary.org/obo/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 Orphanet:79255 https://www.orpha.net/en/disease/detail/79255 NANDO:1200068 http://nanbyodata.jp/ontology/NANDO_1200068 MONDO:0009261 http://purl.obolibrary.org/obo/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 Orphanet:79256 https://www.orpha.net/en/disease/detail/79256 NANDO:1200069 http://nanbyodata.jp/ontology/NANDO_1200069 MONDO:0009262 http://purl.obolibrary.org/obo/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 Orphanet:79257 https://www.orpha.net/en/disease/detail/79257 NANDO:1200057 http://nanbyodata.jp/ontology/NANDO_1200057 MONDO:0009265 http://purl.obolibrary.org/obo/MONDO_0009265 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病I型 Gaucher disease type I Orphanet:77259 https://www.orpha.net/en/disease/detail/77259 NANDO:1200058 http://nanbyodata.jp/ontology/NANDO_1200058 MONDO:0009266 http://purl.obolibrary.org/obo/MONDO_0009266 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病II型 Gaucher disease type II Orphanet:77260 https://www.orpha.net/en/disease/detail/77260 NANDO:1200059 http://nanbyodata.jp/ontology/NANDO_1200059 MONDO:0009267 http://purl.obolibrary.org/obo/MONDO_0009267 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病III型 Gaucher disease type III Orphanet:77261 https://www.orpha.net/en/disease/detail/77261 NANDO:1200074 http://nanbyodata.jp/ontology/NANDO_1200074 MONDO:0009499 http://purl.obolibrary.org/obo/MONDO_0009499 http://www.w3.org/2004/02/skos/core#exactMatch クラッベ病 Krabbe disease Orphanet:487 https://www.orpha.net/en/disease/detail/487 NANDO:1200080 http://nanbyodata.jp/ontology/NANDO_1200080 MONDO:0009591 http://purl.obolibrary.org/obo/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 Orphanet:309263 https://www.orpha.net/en/disease/detail/309263 NANDO:1200004 http://nanbyodata.jp/ontology/NANDO_1200004 MONDO:0009669 http://purl.obolibrary.org/obo/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 Orphanet:83330 https://www.orpha.net/en/disease/detail/83330 NANDO:1200006 http://nanbyodata.jp/ontology/NANDO_1200006 MONDO:0009672 http://purl.obolibrary.org/obo/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 Orphanet:83419 https://www.orpha.net/en/disease/detail/83419 NANDO:1200005 http://nanbyodata.jp/ontology/NANDO_1200005 MONDO:0009673 http://purl.obolibrary.org/obo/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 Orphanet:83418 https://www.orpha.net/en/disease/detail/83418 NANDO:1200020 http://nanbyodata.jp/ontology/NANDO_1200020 MONDO:0009688 http://purl.obolibrary.org/obo/MONDO_0009688 http://www.w3.org/2004/02/skos/core#exactMatch 重症筋無力症 myasthenia gravis Orphanet:589 https://www.orpha.net/en/disease/detail/589 NANDO:1200061 http://nanbyodata.jp/ontology/NANDO_1200061 MONDO:0009756 http://purl.obolibrary.org/obo/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 Orphanet:77292 https://www.orpha.net/en/disease/detail/77292 NANDO:1200072 http://nanbyodata.jp/ontology/NANDO_1200072 MONDO:0010006 http://purl.obolibrary.org/obo/MONDO_0010006 http://www.w3.org/2004/02/skos/core#exactMatch サンドホフ病 Sandhoff disease Orphanet:796 https://www.orpha.net/en/disease/detail/796 NANDO:1200007 http://nanbyodata.jp/ontology/NANDO_1200007 MONDO:0010056 http://purl.obolibrary.org/obo/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 Orphanet:83420 https://www.orpha.net/en/disease/detail/83420 NANDO:1200073 http://nanbyodata.jp/ontology/NANDO_1200073 MONDO:0010099 http://purl.obolibrary.org/obo/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 Orphanet:309246 https://www.orpha.net/en/disease/detail/309246 NANDO:1200071 http://nanbyodata.jp/ontology/NANDO_1200071 MONDO:0010100 http://purl.obolibrary.org/obo/MONDO_0010100 http://www.w3.org/2004/02/skos/core#exactMatch テイ・サックス病 Tay-Sachs disease Orphanet:845 https://www.orpha.net/en/disease/detail/845 NANDO:1200050 http://nanbyodata.jp/ontology/NANDO_1200050 MONDO:0010188 http://purl.obolibrary.org/obo/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 Orphanet:96 https://www.orpha.net/en/disease/detail/96 NANDO:1200001 http://nanbyodata.jp/ontology/NANDO_1200001 MONDO:0010735 http://purl.obolibrary.org/obo/MONDO_0010735 http://www.w3.org/2004/02/skos/core#exactMatch ケネディ病 Kennedy disease Orphanet:481 https://www.orpha.net/en/disease/detail/481 NANDO:1200062 http://nanbyodata.jp/ontology/NANDO_1200062 MONDO:0011871 http://purl.obolibrary.org/obo/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 Orphanet:77293 https://www.orpha.net/en/disease/detail/77293 NANDO:1200048 http://nanbyodata.jp/ontology/NANDO_1200048 MONDO:0013594 http://purl.obolibrary.org/obo/MONDO_0013594 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症36型 spinocerebellar ataxia type 36 Orphanet:276198 https://www.orpha.net/en/disease/detail/276198 NANDO:1200053 http://nanbyodata.jp/ontology/NANDO_1200053 MONDO:0015149 http://purl.obolibrary.org/obo/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 Orphanet:102012 https://www.orpha.net/en/disease/detail/102012 NANDO:1200054 http://nanbyodata.jp/ontology/NANDO_1200054 MONDO:0015150 http://purl.obolibrary.org/obo/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 Orphanet:102013 https://www.orpha.net/en/disease/detail/102013 NANDO:1200016 http://nanbyodata.jp/ontology/NANDO_1200016 MONDO:0015626 http://purl.obolibrary.org/obo/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 Orphanet:166 https://www.orpha.net/en/disease/detail/166 NANDO:1200075 http://nanbyodata.jp/ontology/NANDO_1200075 MONDO:0016089 http://purl.obolibrary.org/obo/MONDO_0016089 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型クラッベ病 infantile Krabbe disease Orphanet:206436 https://www.orpha.net/en/disease/detail/206436 NANDO:1200077 http://nanbyodata.jp/ontology/NANDO_1200077 MONDO:0016091 http://purl.obolibrary.org/obo/MONDO_0016091 http://www.w3.org/2004/02/skos/core#exactMatch 成人型クラッベ病 adult Krabbe disease Orphanet:206448 https://www.orpha.net/en/disease/detail/206448 NANDO:1200001 http://nanbyodata.jp/ontology/NANDO_1200001 MONDO:0016113 http://purl.obolibrary.org/obo/MONDO_0016113 http://www.w3.org/2004/02/skos/core#closeMatch 球脊髄性筋萎縮症 bulbospinal muscular atrophy Orphanet:206701 https://www.orpha.net/en/disease/detail/206701 NANDO:1200065 http://nanbyodata.jp/ontology/NANDO_1200065 MONDO:0016310 http://purl.obolibrary.org/obo/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 Orphanet:216986 https://www.orpha.net/en/disease/detail/216986 NANDO:1200035 http://nanbyodata.jp/ontology/NANDO_1200035 MONDO:0016418 http://purl.obolibrary.org/obo/MONDO_0016418 http://www.w3.org/2004/02/skos/core#exactMatch MSA-C multiple system atrophy, cerebellar type Orphanet:227510 https://www.orpha.net/en/disease/detail/227510 NANDO:1200028 http://nanbyodata.jp/ontology/NANDO_1200028 MONDO:0016430 http://purl.obolibrary.org/obo/MONDO_0016430 http://www.w3.org/2004/02/skos/core#exactMatch Baló病 Balo concentric sclerosis Orphanet:228165 https://www.orpha.net/en/disease/detail/228165 NANDO:1200013 http://nanbyodata.jp/ontology/NANDO_1200013 MONDO:0016987 http://purl.obolibrary.org/obo/MONDO_0016987 http://www.w3.org/2004/02/skos/core#exactMatch 神経有棘赤血球症 neuroacanthocytosis Orphanet:263440 https://www.orpha.net/en/disease/detail/263440 NANDO:1200033 http://nanbyodata.jp/ontology/NANDO_1200033 MONDO:0017364 http://purl.obolibrary.org/obo/MONDO_0017364 http://www.w3.org/2004/02/skos/core#exactMatch クロウ・深瀬症候群 POEMS syndrome Orphanet:2905 https://www.orpha.net/en/disease/detail/2905 NANDO:1200070 http://nanbyodata.jp/ontology/NANDO_1200070 MONDO:0017720 http://purl.obolibrary.org/obo/MONDO_0017720 http://www.w3.org/2004/02/skos/core#exactMatch GM2ガングリオシドーシス GM2 gangliosidosis Orphanet:309152 https://www.orpha.net/en/disease/detail/309152 NANDO:1200079 http://nanbyodata.jp/ontology/NANDO_1200079 MONDO:0017729 http://purl.obolibrary.org/obo/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 Orphanet:309256 https://www.orpha.net/en/disease/detail/309256 NANDO:1200081 http://nanbyodata.jp/ontology/NANDO_1200081 MONDO:0017730 http://purl.obolibrary.org/obo/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 Orphanet:309271 https://www.orpha.net/en/disease/detail/309271 NANDO:1200066 http://nanbyodata.jp/ontology/NANDO_1200066 MONDO:0018149 http://purl.obolibrary.org/obo/MONDO_0018149 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス GM1 gangliosidosis Orphanet:354 https://www.orpha.net/en/disease/detail/354 NANDO:1200056 http://nanbyodata.jp/ontology/NANDO_1200056 MONDO:0018150 http://purl.obolibrary.org/obo/MONDO_0018150 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病 Gaucher disease Orphanet:355 https://www.orpha.net/en/disease/detail/355 NANDO:1200008 http://nanbyodata.jp/ontology/NANDO_1200008 MONDO:0018155 http://purl.obolibrary.org/obo/MONDO_0018155 http://www.w3.org/2004/02/skos/core#exactMatch 原発性側索硬化症 lateral sclerosis Orphanet:35689 https://www.orpha.net/en/disease/detail/35689 NANDO:1200019 http://nanbyodata.jp/ontology/NANDO_1200019 MONDO:0018778 http://purl.obolibrary.org/obo/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 Orphanet:476123 https://www.orpha.net/en/disease/detail/476123 NANDO:1200078 http://nanbyodata.jp/ontology/NANDO_1200078 MONDO:0018868 http://purl.obolibrary.org/obo/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 Orphanet:512 https://www.orpha.net/en/disease/detail/512 NANDO:1200021 http://nanbyodata.jp/ontology/NANDO_1200021 MONDO:0018940 http://purl.obolibrary.org/obo/MONDO_0018940 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋無力症候群 congenital myasthenic syndrome Orphanet:590 https://www.orpha.net/en/disease/detail/590 NANDO:1200015 http://nanbyodata.jp/ontology/NANDO_1200015 MONDO:0018945 http://purl.obolibrary.org/obo/MONDO_0018945 http://www.w3.org/2004/02/skos/core#exactMatch Mcleod症候群 McLeod neuroacanthocytosis syndrome Orphanet:59306 https://www.orpha.net/en/disease/detail/59306 NANDO:1200031 http://nanbyodata.jp/ontology/NANDO_1200031 MONDO:0018979 http://purl.obolibrary.org/obo/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 Orphanet:641 https://www.orpha.net/en/disease/detail/641 NANDO:1200063 http://nanbyodata.jp/ontology/NANDO_1200063 MONDO:0018982 http://purl.obolibrary.org/obo/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 Orphanet:646 https://www.orpha.net/en/disease/detail/646 NANDO:1200018 http://nanbyodata.jp/ontology/NANDO_1200018 MONDO:0018993 http://purl.obolibrary.org/obo/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 Orphanet:64746 https://www.orpha.net/en/disease/detail/64746 NANDO:1200017 http://nanbyodata.jp/ontology/NANDO_1200017 MONDO:0019011 http://purl.obolibrary.org/obo/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 Orphanet:65753 https://www.orpha.net/en/disease/detail/65753 NANDO:1200009 http://nanbyodata.jp/ontology/NANDO_1200009 MONDO:0019037 http://purl.obolibrary.org/obo/MONDO_0019037 http://www.w3.org/2004/02/skos/core#exactMatch 進行性核上性麻痺 progressive supranuclear palsy Orphanet:683 https://www.orpha.net/en/disease/detail/683 NANDO:1100014 http://nanbyodata.jp/ontology/NANDO_1100014 MONDO:0019040 http://purl.obolibrary.org/obo/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 Orphanet:68335 https://www.orpha.net/en/disease/detail/68335 NANDO:1100001 http://nanbyodata.jp/ontology/NANDO_1100001 MONDO:0019056 http://purl.obolibrary.org/obo/MONDO_0019056 http://www.w3.org/2004/02/skos/core#exactMatch 神経・筋疾患 neuromuscular disease Orphanet:68381 https://www.orpha.net/en/disease/detail/68381 NANDO:1200052 http://nanbyodata.jp/ontology/NANDO_1200052 MONDO:0019064 http://purl.obolibrary.org/obo/MONDO_0019064 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性痙性対麻痺 hereditary spastic paraplegia Orphanet:685 https://www.orpha.net/en/disease/detail/685 NANDO:1200027 http://nanbyodata.jp/ontology/NANDO_1200027 MONDO:0019100 http://purl.obolibrary.org/obo/MONDO_0019100 http://www.w3.org/2004/02/skos/core#exactMatch 視神経脊髄炎 neuromyelitis optica Orphanet:71211 https://www.orpha.net/en/disease/detail/71211 NANDO:1200036 http://nanbyodata.jp/ontology/NANDO_1200036 MONDO:0020352 http://purl.obolibrary.org/obo/MONDO_0020352 http://www.w3.org/2004/02/skos/core#exactMatch MSA-P multiple system atrophy, parkinsonian type Orphanet:98933 https://www.orpha.net/en/disease/detail/98933 NANDO:1200173 http://nanbyodata.jp/ontology/NANDO_1200173 MONDO:0004069 http://purl.obolibrary.org/obo/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 Orphanet:68380 https://www.orpha.net/en/disease/detail/68380 NANDO:1200153 http://nanbyodata.jp/ontology/NANDO_1200153 MONDO:0008769 http://purl.obolibrary.org/obo/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 Orphanet:228349 https://www.orpha.net/en/disease/detail/228349 NANDO:1200138 http://nanbyodata.jp/ontology/NANDO_1200138 MONDO:0009290 http://purl.obolibrary.org/obo/MONDO_0009290 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病II glycogen storage disease II Orphanet:365 https://www.orpha.net/en/disease/detail/365 NANDO:1200110 http://nanbyodata.jp/ontology/NANDO_1200110 MONDO:0009661 http://purl.obolibrary.org/obo/MONDO_0009661 http://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症6型 mucopolysaccharidosis type 6 Orphanet:583 https://www.orpha.net/en/disease/detail/583 NANDO:1200109 http://nanbyodata.jp/ontology/NANDO_1200109 MONDO:0009661 http://purl.obolibrary.org/obo/MONDO_0009661 http://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症6型 mucopolysaccharidosis type 6 Orphanet:583 https://www.orpha.net/en/disease/detail/583 NANDO:1200120 http://nanbyodata.jp/ontology/NANDO_1200120 MONDO:0009738 http://purl.obolibrary.org/obo/MONDO_0009738 http://www.w3.org/2004/02/skos/core#closeMatch シアリドーシス2型 sialidosis type 2 Orphanet:87876 https://www.orpha.net/en/disease/detail/87876 NANDO:1200152 http://nanbyodata.jp/ontology/NANDO_1200152 MONDO:0009744 http://purl.obolibrary.org/obo/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 Orphanet:228329 https://www.orpha.net/en/disease/detail/228329 NANDO:1200085 http://nanbyodata.jp/ontology/NANDO_1200085 MONDO:0010088 http://purl.obolibrary.org/obo/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 Orphanet:585 https://www.orpha.net/en/disease/detail/585 NANDO:1200084 http://nanbyodata.jp/ontology/NANDO_1200084 MONDO:0010088 http://purl.obolibrary.org/obo/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 Orphanet:585 https://www.orpha.net/en/disease/detail/585 NANDO:1200162 http://nanbyodata.jp/ontology/NANDO_1200162 MONDO:0018467 http://purl.obolibrary.org/obo/MONDO_0018467 http://www.w3.org/2004/02/skos/core#closeMatch 腎型シスチン症 nephropathic infantile cystinosis Orphanet:411629 https://www.orpha.net/en/disease/detail/411629 NANDO:1200142 http://nanbyodata.jp/ontology/NANDO_1200142 MONDO:0019148 http://purl.obolibrary.org/obo/MONDO_0019148 http://www.w3.org/2004/02/skos/core#closeMatch 酸性リパーゼ欠損症 Wolman disease Orphanet:75233 https://www.orpha.net/en/disease/detail/75233 NANDO:1200174 http://nanbyodata.jp/ontology/NANDO_1200174 MONDO:0005181 http://purl.obolibrary.org/obo/MONDO_0005181 http://www.w3.org/2004/02/skos/core#exactMatch 進行性外眼筋麻痺 progressive external ophthalmoplegia Orphanet:520820 https://www.orpha.net/en/disease/detail/520820 NANDO:1200133 http://nanbyodata.jp/ontology/NANDO_1200133 MONDO:0008830 http://purl.obolibrary.org/obo/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 Orphanet:93 https://www.orpha.net/en/disease/detail/93 NANDO:1200164 http://nanbyodata.jp/ontology/NANDO_1200164 MONDO:0009064 http://purl.obolibrary.org/obo/MONDO_0009064 http://www.w3.org/2004/02/skos/core#exactMatch 眼型シスチン症 ocular cystinosis Orphanet:411641 https://www.orpha.net/en/disease/detail/411641 NANDO:1200163 http://nanbyodata.jp/ontology/NANDO_1200163 MONDO:0009066 http://purl.obolibrary.org/obo/MONDO_0009066 http://www.w3.org/2004/02/skos/core#exactMatch 中間型シスチン症 juvenile nephropathic cystinosis Orphanet:411634 https://www.orpha.net/en/disease/detail/411634 NANDO:1200086 http://nanbyodata.jp/ontology/NANDO_1200086 MONDO:0009218 http://purl.obolibrary.org/obo/MONDO_0009218 http://www.w3.org/2004/02/skos/core#exactMatch ファーバー脂肪肉芽腫症 Farber lipogranulomatosis Orphanet:333 https://www.orpha.net/en/disease/detail/333 NANDO:1200130 http://nanbyodata.jp/ontology/NANDO_1200130 MONDO:0009254 http://purl.obolibrary.org/obo/MONDO_0009254 http://www.w3.org/2004/02/skos/core#exactMatch フコシドーシス fucosidosis Orphanet:349 https://www.orpha.net/en/disease/detail/349 NANDO:1200126 http://nanbyodata.jp/ontology/NANDO_1200126 MONDO:0009561 http://purl.obolibrary.org/obo/MONDO_0009561 http://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス alpha-mannosidosis Orphanet:61 https://www.orpha.net/en/disease/detail/61 NANDO:1200129 http://nanbyodata.jp/ontology/NANDO_1200129 MONDO:0009562 http://purl.obolibrary.org/obo/MONDO_0009562 http://www.w3.org/2004/02/skos/core#exactMatch β-マンノシドーシス beta-mannosidosis Orphanet:118 https://www.orpha.net/en/disease/detail/118 NANDO:1200124 http://nanbyodata.jp/ontology/NANDO_1200124 MONDO:0009650 http://purl.obolibrary.org/obo/MONDO_0009650 http://www.w3.org/2004/02/skos/core#exactMatch ムコリピドーシスII型 mucolipidosis type II Orphanet:576 https://www.orpha.net/en/disease/detail/576 NANDO:1200101 http://nanbyodata.jp/ontology/NANDO_1200101 MONDO:0009655 http://purl.obolibrary.org/obo/MONDO_0009655 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3A型 mucopolysaccharidosis type 3A Orphanet:79269 https://www.orpha.net/en/disease/detail/79269 NANDO:1200102 http://nanbyodata.jp/ontology/NANDO_1200102 MONDO:0009656 http://purl.obolibrary.org/obo/MONDO_0009656 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 10型 mucopolysaccharidosis type 3B Orphanet:79270 https://www.orpha.net/en/disease/detail/79270 NANDO:1200103 http://nanbyodata.jp/ontology/NANDO_1200103 MONDO:0009657 http://purl.obolibrary.org/obo/MONDO_0009657 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3B型 mucopolysaccharidosis type 3C Orphanet:79271 https://www.orpha.net/en/disease/detail/79271 NANDO:1200104 http://nanbyodata.jp/ontology/NANDO_1200104 MONDO:0009658 http://purl.obolibrary.org/obo/MONDO_0009658 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3C型 mucopolysaccharidosis type 3D Orphanet:79272 https://www.orpha.net/en/disease/detail/79272 NANDO:1200106 http://nanbyodata.jp/ontology/NANDO_1200106 MONDO:0009659 http://purl.obolibrary.org/obo/MONDO_0009659 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4A型 mucopolysaccharidosis type 4A Orphanet:309297 https://www.orpha.net/en/disease/detail/309297 NANDO:1200107 http://nanbyodata.jp/ontology/NANDO_1200107 MONDO:0009660 http://purl.obolibrary.org/obo/MONDO_0009660 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4B型 mucopolysaccharidosis type 4B Orphanet:309310 https://www.orpha.net/en/disease/detail/309310 NANDO:1200108 http://nanbyodata.jp/ontology/NANDO_1200108 MONDO:0009661 http://purl.obolibrary.org/obo/MONDO_0009661 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症6型 mucopolysaccharidosis type 6 Orphanet:583 https://www.orpha.net/en/disease/detail/583 NANDO:1200111 http://nanbyodata.jp/ontology/NANDO_1200111 MONDO:0009662 http://purl.obolibrary.org/obo/MONDO_0009662 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症7型 mucopolysaccharidosis type 7 Orphanet:584 https://www.orpha.net/en/disease/detail/584 NANDO:1200175 http://nanbyodata.jp/ontology/NANDO_1200175 MONDO:0009723 http://purl.obolibrary.org/obo/MONDO_0009723 http://www.w3.org/2004/02/skos/core#exactMatch リー症候群 Leigh syndrome Orphanet:506 https://www.orpha.net/en/disease/detail/506 NANDO:1200119 http://nanbyodata.jp/ontology/NANDO_1200119 MONDO:0009737 http://purl.obolibrary.org/obo/MONDO_0009737 http://www.w3.org/2004/02/skos/core#exactMatch ガラクトシアリドーシス galactosialidosis Orphanet:351 https://www.orpha.net/en/disease/detail/351 NANDO:1200118 http://nanbyodata.jp/ontology/NANDO_1200118 MONDO:0009738 http://purl.obolibrary.org/obo/MONDO_0009738 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス2型 sialidosis type 2 Orphanet:87876 https://www.orpha.net/en/disease/detail/87876 NANDO:1200147 http://nanbyodata.jp/ontology/NANDO_1200147 MONDO:0010027 http://purl.obolibrary.org/obo/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 Orphanet:309324 https://www.orpha.net/en/disease/detail/309324 NANDO:1200083 http://nanbyodata.jp/ontology/NANDO_1200083 MONDO:0010088 http://purl.obolibrary.org/obo/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 Orphanet:585 https://www.orpha.net/en/disease/detail/585 NANDO:1200166 http://nanbyodata.jp/ontology/NANDO_1200166 MONDO:0010247 http://purl.obolibrary.org/obo/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 Orphanet:139396 https://www.orpha.net/en/disease/detail/139396 NANDO:1200157 http://nanbyodata.jp/ontology/NANDO_1200157 MONDO:0010526 http://purl.obolibrary.org/obo/MONDO_0010526 http://www.w3.org/2004/02/skos/core#exactMatch ファブリー病 Fabry disease Orphanet:324 https://www.orpha.net/en/disease/detail/324 NANDO:1200097 http://nanbyodata.jp/ontology/NANDO_1200097 MONDO:0010674 http://purl.obolibrary.org/obo/MONDO_0010674 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型 mucopolysaccharidosis type 2 Orphanet:580 https://www.orpha.net/en/disease/detail/580 NANDO:1200097 http://nanbyodata.jp/ontology/NANDO_1200097 MONDO:0010674 http://purl.obolibrary.org/obo/MONDO_0010674 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型 mucopolysaccharidosis type 2 Orphanet:79388 https://www.orpha.net/en/disease/detail/79388 NANDO:1200176 http://nanbyodata.jp/ontology/NANDO_1200176 MONDO:0010789 http://purl.obolibrary.org/obo/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 Orphanet:550 https://www.orpha.net/en/disease/detail/550 NANDO:1200177 http://nanbyodata.jp/ontology/NANDO_1200177 MONDO:0010790 http://purl.obolibrary.org/obo/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 Orphanet:551 https://www.orpha.net/en/disease/detail/551 NANDO:1200115 http://nanbyodata.jp/ontology/NANDO_1200115 MONDO:0011093 http://purl.obolibrary.org/obo/MONDO_0011093 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症9型 mucopolysaccharidosis type 9 Orphanet:67041 https://www.orpha.net/en/disease/detail/67041 NANDO:1200094 http://nanbyodata.jp/ontology/NANDO_1200094 MONDO:0011758 http://purl.obolibrary.org/obo/MONDO_0011758 http://www.w3.org/2004/02/skos/core#exactMatch Hurler症候群 Hurler syndrome Orphanet:93473 https://www.orpha.net/en/disease/detail/93473 NANDO:1200096 http://nanbyodata.jp/ontology/NANDO_1200096 MONDO:0011759 http://purl.obolibrary.org/obo/MONDO_0011759 http://www.w3.org/2004/02/skos/core#exactMatch Hurler-Scheie症候群 Hurler-Scheie syndrome Orphanet:93476 https://www.orpha.net/en/disease/detail/93476 NANDO:1200095 http://nanbyodata.jp/ontology/NANDO_1200095 MONDO:0011760 http://purl.obolibrary.org/obo/MONDO_0011760 http://www.w3.org/2004/02/skos/core#exactMatch Scheie症候群 Scheie syndrome Orphanet:93474 https://www.orpha.net/en/disease/detail/93474 NANDO:1200135 http://nanbyodata.jp/ontology/NANDO_1200135 MONDO:0012221 http://purl.obolibrary.org/obo/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 Orphanet:79279 https://www.orpha.net/en/disease/detail/79279 NANDO:1200136 http://nanbyodata.jp/ontology/NANDO_1200136 MONDO:0012222 http://purl.obolibrary.org/obo/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 Orphanet:79280 https://www.orpha.net/en/disease/detail/79280 NANDO:1200168 http://nanbyodata.jp/ontology/NANDO_1200168 MONDO:0015339 http://purl.obolibrary.org/obo/MONDO_0015339 http://www.w3.org/2004/02/skos/core#exactMatch 副腎脊髄ニューロパチー adrenomyeloneuropathy Orphanet:139399 https://www.orpha.net/en/disease/detail/139399 NANDO:1200161 http://nanbyodata.jp/ontology/NANDO_1200161 MONDO:0016239 http://purl.obolibrary.org/obo/MONDO_0016239 http://www.w3.org/2004/02/skos/core#exactMatch シスチン症 cystinosis Orphanet:213 https://www.orpha.net/en/disease/detail/213 NANDO:1200150 http://nanbyodata.jp/ontology/NANDO_1200150 MONDO:0016295 http://purl.obolibrary.org/obo/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 Orphanet:216 https://www.orpha.net/en/disease/detail/216 NANDO:1200098 http://nanbyodata.jp/ontology/NANDO_1200098 MONDO:0016315 http://purl.obolibrary.org/obo/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 Orphanet:217085 https://www.orpha.net/en/disease/detail/217085 NANDO:1200099 http://nanbyodata.jp/ontology/NANDO_1200099 MONDO:0016316 http://purl.obolibrary.org/obo/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 Orphanet:217093 https://www.orpha.net/en/disease/detail/217093 NANDO:1200139 http://nanbyodata.jp/ontology/NANDO_1200139 MONDO:0017694 http://purl.obolibrary.org/obo/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 Orphanet:308552 https://www.orpha.net/en/disease/detail/308552 NANDO:1200127 http://nanbyodata.jp/ontology/NANDO_1200127 MONDO:0017732 http://purl.obolibrary.org/obo/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 Orphanet:309282 https://www.orpha.net/en/disease/detail/309282 NANDO:1200128 http://nanbyodata.jp/ontology/NANDO_1200128 MONDO:0017733 http://purl.obolibrary.org/obo/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 Orphanet:309288 https://www.orpha.net/en/disease/detail/309288 NANDO:1200116 http://nanbyodata.jp/ontology/NANDO_1200116 MONDO:0017734 http://purl.obolibrary.org/obo/MONDO_0017734 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス sialidosis Orphanet:309294 https://www.orpha.net/en/disease/detail/309294 NANDO:1200148 http://nanbyodata.jp/ontology/NANDO_1200148 MONDO:0017737 http://purl.obolibrary.org/obo/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 Orphanet:309331 https://www.orpha.net/en/disease/detail/309331 NANDO:1200134 http://nanbyodata.jp/ontology/NANDO_1200134 MONDO:0017779 http://purl.obolibrary.org/obo/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 Orphanet:3137 https://www.orpha.net/en/disease/detail/3137 NANDO:1200165 http://nanbyodata.jp/ontology/NANDO_1200165 MONDO:0018544 http://purl.obolibrary.org/obo/MONDO_0018544 http://www.w3.org/2004/02/skos/core#exactMatch 副腎白質ジストロフィー adrenoleukodystrophy Orphanet:43 https://www.orpha.net/en/disease/detail/43 NANDO:1200125 http://nanbyodata.jp/ontology/NANDO_1200125 MONDO:0018931 http://purl.obolibrary.org/obo/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 Orphanet:423461 https://www.orpha.net/en/disease/detail/423461 NANDO:1200125 http://nanbyodata.jp/ontology/NANDO_1200125 MONDO:0018931 http://purl.obolibrary.org/obo/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 Orphanet:577 https://www.orpha.net/en/disease/detail/577 NANDO:1200100 http://nanbyodata.jp/ontology/NANDO_1200100 MONDO:0018937 http://purl.obolibrary.org/obo/MONDO_0018937 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症3型 mucopolysaccharidosis type 3 Orphanet:581 https://www.orpha.net/en/disease/detail/581 NANDO:1200105 http://nanbyodata.jp/ontology/NANDO_1200105 MONDO:0018938 http://purl.obolibrary.org/obo/MONDO_0018938 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4型 mucopolysaccharidosis type 4 Orphanet:582 https://www.orpha.net/en/disease/detail/582 NANDO:1200143 http://nanbyodata.jp/ontology/NANDO_1200143 MONDO:0019148 http://purl.obolibrary.org/obo/MONDO_0019148 http://www.w3.org/2004/02/skos/core#exactMatch 酸性リパーゼ欠損症 Wolman disease Orphanet:75233 https://www.orpha.net/en/disease/detail/75233 NANDO:1200144 http://nanbyodata.jp/ontology/NANDO_1200144 MONDO:0019149 http://purl.obolibrary.org/obo/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 Orphanet:75234 https://www.orpha.net/en/disease/detail/75234 NANDO:1200137 http://nanbyodata.jp/ontology/NANDO_1200137 MONDO:0019264 http://purl.obolibrary.org/obo/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 Orphanet:79281 https://www.orpha.net/en/disease/detail/79281 NANDO:1200117 http://nanbyodata.jp/ontology/NANDO_1200117 MONDO:0019346 http://purl.obolibrary.org/obo/MONDO_0019346 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス1型 sialidosis type 1 Orphanet:812 https://www.orpha.net/en/disease/detail/812 NANDO:1200146 http://nanbyodata.jp/ontology/NANDO_1200146 MONDO:0019366 http://purl.obolibrary.org/obo/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 Orphanet:834 https://www.orpha.net/en/disease/detail/834 NANDO:1200180 http://nanbyodata.jp/ontology/NANDO_1200180 MONDO:0100133 http://purl.obolibrary.org/obo/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 Orphanet:2609 https://www.orpha.net/en/disease/detail/2609 NANDO:1200215 http://nanbyodata.jp/ontology/NANDO_1200215 MONDO:0000355 http://purl.obolibrary.org/obo/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 Orphanet:75840 https://www.orpha.net/en/disease/detail/75840 NANDO:1200194 http://nanbyodata.jp/ontology/NANDO_1200194 MONDO:0007012 http://purl.obolibrary.org/obo/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 Orphanet:576370 https://www.orpha.net/en/disease/detail/576370 NANDO:1200227 http://nanbyodata.jp/ontology/NANDO_1200227 MONDO:0007039 http://purl.obolibrary.org/obo/MONDO_0007039 http://www.w3.org/2004/02/skos/core#exactMatch 神経線維腫症2型 neurofibromatosis type 2 Orphanet:637 https://www.orpha.net/en/disease/detail/637 NANDO:1200214 http://nanbyodata.jp/ontology/NANDO_1200214 MONDO:0007100 http://purl.obolibrary.org/obo/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 Orphanet:271861 https://www.orpha.net/en/disease/detail/271861 NANDO:1200189 http://nanbyodata.jp/ontology/NANDO_1200189 MONDO:0007403 http://purl.obolibrary.org/obo/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 Orphanet:282166 https://www.orpha.net/en/disease/detail/282166 NANDO:1200190 http://nanbyodata.jp/ontology/NANDO_1200190 MONDO:0007656 http://purl.obolibrary.org/obo/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 Orphanet:356 https://www.orpha.net/en/disease/detail/356 NANDO:1200218 http://nanbyodata.jp/ontology/NANDO_1200218 MONDO:0007827 http://purl.obolibrary.org/obo/MONDO_0007827 http://www.w3.org/2004/02/skos/core#closeMatch 封入体筋炎 inclusion body myositis Orphanet:611 https://www.orpha.net/en/disease/detail/611 NANDO:1200272 http://nanbyodata.jp/ontology/NANDO_1200272 MONDO:0007915 http://purl.obolibrary.org/obo/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 Orphanet:536 https://www.orpha.net/en/disease/detail/536 NANDO:1200220 http://nanbyodata.jp/ontology/NANDO_1200220 MONDO:0008029 http://purl.obolibrary.org/obo/MONDO_0008029 http://www.w3.org/2004/02/skos/core#exactMatch ベスレムミオパチー Bethlem myopathy Orphanet:610 https://www.orpha.net/en/disease/detail/610 NANDO:1200206 http://nanbyodata.jp/ontology/NANDO_1200206 MONDO:0008039 http://purl.obolibrary.org/obo/MONDO_0008039 http://www.w3.org/2004/02/skos/core#exactMatch 熱帯性痙性麻痺 tropical spastic paraparesis Orphanet:289326 https://www.orpha.net/en/disease/detail/289326 NANDO:1200229 http://nanbyodata.jp/ontology/NANDO_1200229 MONDO:0008219 http://purl.obolibrary.org/obo/MONDO_0008219 http://www.w3.org/2004/02/skos/core#exactMatch 尋常性天疱瘡 pemphigus vulgaris Orphanet:704 https://www.orpha.net/en/disease/detail/704 NANDO:1200239 http://nanbyodata.jp/ontology/NANDO_1200239 MONDO:0008260 http://purl.obolibrary.org/obo/MONDO_0008260 http://www.w3.org/2004/02/skos/core#exactMatch キンドラー症候群 Kindler syndrome Orphanet:2908 https://www.orpha.net/en/disease/detail/2908 NANDO:1200258 http://nanbyodata.jp/ontology/NANDO_1200258 MONDO:0008538 http://purl.obolibrary.org/obo/MONDO_0008538 http://www.w3.org/2004/02/skos/core#exactMatch 側頭動脈炎 temporal arteritis Orphanet:397 https://www.orpha.net/en/disease/detail/397 NANDO:1200266 http://nanbyodata.jp/ontology/NANDO_1200266 MONDO:0008889 http://purl.obolibrary.org/obo/MONDO_0008889 http://www.w3.org/2004/02/skos/core#exactMatch 閉塞性血栓血管炎 thromboangiitis obliterans Orphanet:36258 https://www.orpha.net/en/disease/detail/36258 NANDO:1200207 http://nanbyodata.jp/ontology/NANDO_1200207 MONDO:0008947 http://purl.obolibrary.org/obo/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 Orphanet:1980 https://www.orpha.net/en/disease/detail/1980 NANDO:1200238 http://nanbyodata.jp/ontology/NANDO_1200238 MONDO:0009179 http://purl.obolibrary.org/obo/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 Orphanet:79408 https://www.orpha.net/en/disease/detail/79408 NANDO:1200217 http://nanbyodata.jp/ontology/NANDO_1200217 MONDO:0009685 http://purl.obolibrary.org/obo/MONDO_0009685 http://www.w3.org/2004/02/skos/core#exactMatch 三好型ミオパチー Miyoshi myopathy Orphanet:45448 https://www.orpha.net/en/disease/detail/45448 NANDO:1200224 http://nanbyodata.jp/ontology/NANDO_1200224 MONDO:0009717 http://purl.obolibrary.org/obo/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 Orphanet:800 https://www.orpha.net/en/disease/detail/800 NANDO:1200196 http://nanbyodata.jp/ontology/NANDO_1200196 MONDO:0009835 http://purl.obolibrary.org/obo/MONDO_0009835 http://www.w3.org/2004/02/skos/core#closeMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis Orphanet:2806 https://www.orpha.net/en/disease/detail/2806 NANDO:1200198 http://nanbyodata.jp/ontology/NANDO_1200198 MONDO:0009835 http://purl.obolibrary.org/obo/MONDO_0009835 http://www.w3.org/2004/02/skos/core#closeMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis Orphanet:2806 https://www.orpha.net/en/disease/detail/2806 NANDO:1200195 http://nanbyodata.jp/ontology/NANDO_1200195 MONDO:0009835 http://purl.obolibrary.org/obo/MONDO_0009835 http://www.w3.org/2004/02/skos/core#exactMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis Orphanet:2806 https://www.orpha.net/en/disease/detail/2806 NANDO:1200222 http://nanbyodata.jp/ontology/NANDO_1200222 MONDO:0010281 http://purl.obolibrary.org/obo/MONDO_0010281 http://www.w3.org/2004/02/skos/core#exactMatch ダノン病 Danon disease Orphanet:34587 https://www.orpha.net/en/disease/detail/34587 NANDO:1200223 http://nanbyodata.jp/ontology/NANDO_1200223 MONDO:0010684 http://purl.obolibrary.org/obo/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 Orphanet:25980 https://www.orpha.net/en/disease/detail/25980 NANDO:1200191 http://nanbyodata.jp/ontology/NANDO_1200191 MONDO:0010808 http://purl.obolibrary.org/obo/MONDO_0010808 http://www.w3.org/2004/02/skos/core#exactMatch 致死性家族性不眠症 fatal familial insomnia Orphanet:466 https://www.orpha.net/en/disease/detail/466 NANDO:1200218 http://nanbyodata.jp/ontology/NANDO_1200218 MONDO:0011603 http://purl.obolibrary.org/obo/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 Orphanet:602 https://www.orpha.net/en/disease/detail/602 NANDO:1200263 http://nanbyodata.jp/ontology/NANDO_1200263 MONDO:0012105 http://purl.obolibrary.org/obo/MONDO_0012105 http://www.w3.org/2004/02/skos/core#exactMatch 多発血管炎性肉芽腫症 granulomatosis with polyangiitis Orphanet:900 https://www.orpha.net/en/disease/detail/900 NANDO:1200244 http://nanbyodata.jp/ontology/NANDO_1200244 MONDO:0013626 http://purl.obolibrary.org/obo/MONDO_0013626 http://www.w3.org/2004/02/skos/core#exactMatch 乾癬14, 膿疱性 psoriasis 14, pustular Orphanet:163931 https://www.orpha.net/en/disease/detail/163931 NANDO:1200244 http://nanbyodata.jp/ontology/NANDO_1200244 MONDO:0013626 http://purl.obolibrary.org/obo/MONDO_0013626 http://www.w3.org/2004/02/skos/core#exactMatch 乾癬14, 膿疱性 psoriasis 14, pustular Orphanet:404546 https://www.orpha.net/en/disease/detail/404546 NANDO:1200264 http://nanbyodata.jp/ontology/NANDO_1200264 MONDO:0015943 http://purl.obolibrary.org/obo/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 Orphanet:183 https://www.orpha.net/en/disease/detail/183 NANDO:1200187 http://nanbyodata.jp/ontology/NANDO_1200187 MONDO:0016079 http://purl.obolibrary.org/obo/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 Orphanet:204 https://www.orpha.net/en/disease/detail/204 NANDO:1200205 http://nanbyodata.jp/ontology/NANDO_1200205 MONDO:0016318 http://purl.obolibrary.org/obo/MONDO_0016318 http://www.w3.org/2004/02/skos/core#exactMatch 進行性多巣性白質脳症 progressive multifocal leukoencephalopathy Orphanet:217260 https://www.orpha.net/en/disease/detail/217260 NANDO:1200183 http://nanbyodata.jp/ontology/NANDO_1200183 MONDO:0016820 http://purl.obolibrary.org/obo/MONDO_0016820 http://www.w3.org/2004/02/skos/core#exactMatch もやもや病 Moyamoya disease Orphanet:2573 https://www.orpha.net/en/disease/detail/2573 NANDO:1200235 http://nanbyodata.jp/ontology/NANDO_1200235 MONDO:0017610 http://purl.obolibrary.org/obo/MONDO_0017610 http://www.w3.org/2004/02/skos/core#exactMatch 単純型表皮水疱症 epidermolysis bullosa simplex Orphanet:304 https://www.orpha.net/en/disease/detail/304 NANDO:1200236 http://nanbyodata.jp/ontology/NANDO_1200236 MONDO:0017612 http://purl.obolibrary.org/obo/MONDO_0017612 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症 junctional epidermolysis bullosa Orphanet:305 https://www.orpha.net/en/disease/detail/305 NANDO:1200209 http://nanbyodata.jp/ontology/NANDO_1200209 MONDO:0017816 http://purl.obolibrary.org/obo/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 Orphanet:314701 https://www.orpha.net/en/disease/detail/314701 NANDO:1200251 http://nanbyodata.jp/ontology/NANDO_1200251 MONDO:0017991 http://purl.obolibrary.org/obo/MONDO_0017991 http://www.w3.org/2004/02/skos/core#exactMatch 高安動脈炎 Takayasu arteritis Orphanet:3287 https://www.orpha.net/en/disease/detail/3287 NANDO:1200251 http://nanbyodata.jp/ontology/NANDO_1200251 MONDO:0017991 http://purl.obolibrary.org/obo/MONDO_0017991 http://www.w3.org/2004/02/skos/core#exactMatch 高安動脈炎 Takayasu arteritis Orphanet:99079 https://www.orpha.net/en/disease/detail/99079 NANDO:1200212 http://nanbyodata.jp/ontology/NANDO_1200212 MONDO:0018018 http://purl.obolibrary.org/obo/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 Orphanet:330001 https://www.orpha.net/en/disease/detail/330001 NANDO:1200245 http://nanbyodata.jp/ontology/NANDO_1200245 MONDO:0018229 http://purl.obolibrary.org/obo/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 Orphanet:36426 https://www.orpha.net/en/disease/detail/36426 NANDO:1200192 http://nanbyodata.jp/ontology/NANDO_1200192 MONDO:0018686 http://purl.obolibrary.org/obo/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 Orphanet:454700 https://www.orpha.net/en/disease/detail/454700 NANDO:1200270 http://nanbyodata.jp/ontology/NANDO_1200270 MONDO:0018737 http://purl.obolibrary.org/obo/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 Orphanet:464343 https://www.orpha.net/en/disease/detail/464343 NANDO:1200216 http://nanbyodata.jp/ontology/NANDO_1200216 MONDO:0018949 http://purl.obolibrary.org/obo/MONDO_0018949 http://www.w3.org/2004/02/skos/core#exactMatch 遠位型ミオパチー distal myopathy Orphanet:599 https://www.orpha.net/en/disease/detail/599 NANDO:1200231 http://nanbyodata.jp/ontology/NANDO_1200231 MONDO:0018974 http://purl.obolibrary.org/obo/MONDO_0018974 http://www.w3.org/2004/02/skos/core#exactMatch 腫瘍随伴性天疱瘡 paraneoplastic pemphigus Orphanet:63455 https://www.orpha.net/en/disease/detail/63455 NANDO:1200225 http://nanbyodata.jp/ontology/NANDO_1200225 MONDO:0018975 http://purl.obolibrary.org/obo/MONDO_0018975 http://www.w3.org/2004/02/skos/core#closeMatch 神経線維腫症1型 neurofibromatosis type 1 Orphanet:636 https://www.orpha.net/en/disease/detail/636 NANDO:1200226 http://nanbyodata.jp/ontology/NANDO_1200226 MONDO:0018975 http://purl.obolibrary.org/obo/MONDO_0018975 http://www.w3.org/2004/02/skos/core#exactMatch 神経線維腫症1型 neurofibromatosis type 1 Orphanet:636 https://www.orpha.net/en/disease/detail/636 NANDO:1200262 http://nanbyodata.jp/ontology/NANDO_1200262 MONDO:0019124 http://purl.obolibrary.org/obo/MONDO_0019124 http://www.w3.org/2004/02/skos/core#exactMatch 顕微鏡的多発血管炎 microscopic polyangiitis Orphanet:727 https://www.orpha.net/en/disease/detail/727 NANDO:1200261 http://nanbyodata.jp/ontology/NANDO_1200261 MONDO:0019170 http://purl.obolibrary.org/obo/MONDO_0019170 http://www.w3.org/2004/02/skos/core#exactMatch 結節性多発動脈炎 polyarteritis nodosa Orphanet:767 https://www.orpha.net/en/disease/detail/767 NANDO:1200232 http://nanbyodata.jp/ontology/NANDO_1200232 MONDO:0019322 http://purl.obolibrary.org/obo/MONDO_0019322 http://www.w3.org/2004/02/skos/core#exactMatch 増殖性天疱瘡 pemphigus vegetans Orphanet:79479 https://www.orpha.net/en/disease/detail/79479 NANDO:1200233 http://nanbyodata.jp/ontology/NANDO_1200233 MONDO:0019323 http://purl.obolibrary.org/obo/MONDO_0019323 http://www.w3.org/2004/02/skos/core#exactMatch 紅斑性天疱瘡 pemphigus erythematosus Orphanet:79480 https://www.orpha.net/en/disease/detail/79480 NANDO:1200230 http://nanbyodata.jp/ontology/NANDO_1200230 MONDO:0019324 http://purl.obolibrary.org/obo/MONDO_0019324 http://www.w3.org/2004/02/skos/core#exactMatch 落葉状天疱瘡 pemphigus foliaceus Orphanet:79481 https://www.orpha.net/en/disease/detail/79481 NANDO:1200211 http://nanbyodata.jp/ontology/NANDO_1200211 MONDO:0019438 http://purl.obolibrary.org/obo/MONDO_0019438 http://www.w3.org/2004/02/skos/core#exactMatch ALミロイドーシス AL amyloidosis Orphanet:85443 https://www.orpha.net/en/disease/detail/85443 NANDO:1200246 http://nanbyodata.jp/ontology/NANDO_1200246 MONDO:0019810 http://purl.obolibrary.org/obo/MONDO_0019810 http://www.w3.org/2004/02/skos/core#exactMatch 中毒性表皮壊死症 toxic epidermal necrolysis Orphanet:95455 https://www.orpha.net/en/disease/detail/95455 NANDO:1200219 http://nanbyodata.jp/ontology/NANDO_1200219 MONDO:0025193 http://purl.obolibrary.org/obo/MONDO_0025193 http://www.w3.org/2004/02/skos/core#exactMatch 眼咽頭遠位型ミオパチー oculopharyngodistal myopathy Orphanet:98897 https://www.orpha.net/en/disease/detail/98897 NANDO:1200193 http://nanbyodata.jp/ontology/NANDO_1200193 MONDO:0034976 http://purl.obolibrary.org/obo/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 Orphanet:576379 https://www.orpha.net/en/disease/detail/576379 NANDO:1200334 http://nanbyodata.jp/ontology/NANDO_1200334 MONDO:0000133 http://purl.obolibrary.org/obo/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 Orphanet:2268 https://www.orpha.net/en/disease/detail/2268 NANDO:1200302 http://nanbyodata.jp/ontology/NANDO_1200302 MONDO:0001713 http://purl.obolibrary.org/obo/MONDO_0001713 http://www.w3.org/2004/02/skos/core#exactMatch 先天性再生不良性貧血 inherited aplastic anemia Orphanet:68383 https://www.orpha.net/en/disease/detail/68383 NANDO:1200320 http://nanbyodata.jp/ontology/NANDO_1200320 MONDO:0003778 http://purl.obolibrary.org/obo/MONDO_0003778 http://www.w3.org/2004/02/skos/core#exactMatch 先天性免疫異常症 inborn error of immunity Orphanet:101997 https://www.orpha.net/en/disease/detail/101997 NANDO:1200364 http://nanbyodata.jp/ontology/NANDO_1200364 MONDO:0003832 http://purl.obolibrary.org/obo/MONDO_0003832 http://www.w3.org/2004/02/skos/core#exactMatch 補体欠損症 complement deficiency Orphanet:459345 https://www.orpha.net/en/disease/detail/459345 NANDO:1200288 http://nanbyodata.jp/ontology/NANDO_1200288 MONDO:0005045 http://purl.obolibrary.org/obo/MONDO_0005045 http://www.w3.org/2004/02/skos/core#closeMatch 肥大型心筋症 hypertrophic cardiomyopathy Orphanet:217569 https://www.orpha.net/en/disease/detail/217569 NANDO:1200286 http://nanbyodata.jp/ontology/NANDO_1200286 MONDO:0005045 http://purl.obolibrary.org/obo/MONDO_0005045 http://www.w3.org/2004/02/skos/core#exactMatch 肥大型心筋症 hypertrophic cardiomyopathy Orphanet:217569 https://www.orpha.net/en/disease/detail/217569 NANDO:1200277 http://nanbyodata.jp/ontology/NANDO_1200277 MONDO:0005100 http://purl.obolibrary.org/obo/MONDO_0005100 http://www.w3.org/2004/02/skos/core#exactMatch 全身性硬化症 systemic sclerosis Orphanet:90291 https://www.orpha.net/en/disease/detail/90291 NANDO:1200293 http://nanbyodata.jp/ontology/NANDO_1200293 MONDO:0005201 http://purl.obolibrary.org/obo/MONDO_0005201 http://www.w3.org/2004/02/skos/core#closeMatch 拘束型心筋症 restrictive cardiomyopathy Orphanet:217632 https://www.orpha.net/en/disease/detail/217632 NANDO:1200292 http://nanbyodata.jp/ontology/NANDO_1200292 MONDO:0005201 http://purl.obolibrary.org/obo/MONDO_0005201 http://www.w3.org/2004/02/skos/core#exactMatch 拘束型心筋症 restrictive cardiomyopathy Orphanet:217632 https://www.orpha.net/en/disease/detail/217632 NANDO:1200366 http://nanbyodata.jp/ontology/NANDO_1200366 MONDO:0005342 http://purl.obolibrary.org/obo/MONDO_0005342 http://www.w3.org/2004/02/skos/core#exactMatch IgA腎症 IgA glomerulonephritis Orphanet:34145 https://www.orpha.net/en/disease/detail/34145 NANDO:1200278 http://nanbyodata.jp/ontology/NANDO_1200278 MONDO:0005854 http://purl.obolibrary.org/obo/MONDO_0005854 http://www.w3.org/2004/02/skos/core#exactMatch 混合性結合組織病 mixed connective tissue disease Orphanet:809 https://www.orpha.net/en/disease/detail/809 NANDO:1200323 http://nanbyodata.jp/ontology/NANDO_1200323 MONDO:0007064 http://purl.obolibrary.org/obo/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 Orphanet:277 https://www.orpha.net/en/disease/detail/277 NANDO:1200284 http://nanbyodata.jp/ontology/NANDO_1200284 MONDO:0007191 http://purl.obolibrary.org/obo/MONDO_0007191 http://www.w3.org/2004/02/skos/core#exactMatch ベーチェット病 Behcet disease Orphanet:117 https://www.orpha.net/en/disease/detail/117 NANDO:1200354 http://nanbyodata.jp/ontology/NANDO_1200354 MONDO:0008090 http://purl.obolibrary.org/obo/MONDO_0008090 http://www.w3.org/2004/02/skos/core#exactMatch 周期性好中球減少症 cyclic hematopoiesis Orphanet:2686 https://www.orpha.net/en/disease/detail/2686 NANDO:1200315 http://nanbyodata.jp/ontology/NANDO_1200315 MONDO:0008558 http://purl.obolibrary.org/obo/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 Orphanet:3002 https://www.orpha.net/en/disease/detail/3002 NANDO:1200331 http://nanbyodata.jp/ontology/NANDO_1200331 MONDO:0008840 http://purl.obolibrary.org/obo/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 Orphanet:100 https://www.orpha.net/en/disease/detail/100 NANDO:1200329 http://nanbyodata.jp/ontology/NANDO_1200329 MONDO:0008855 http://purl.obolibrary.org/obo/MONDO_0008855 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスII欠損症 MHC class II deficiency Orphanet:572 https://www.orpha.net/en/disease/detail/572 NANDO:1200333 http://nanbyodata.jp/ontology/NANDO_1200333 MONDO:0008876 http://purl.obolibrary.org/obo/MONDO_0008876 http://www.w3.org/2004/02/skos/core#exactMatch ブルーム症候群 Bloom syndrome Orphanet:125 https://www.orpha.net/en/disease/detail/125 NANDO:1200350 http://nanbyodata.jp/ontology/NANDO_1200350 MONDO:0008963 http://purl.obolibrary.org/obo/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 Orphanet:167 https://www.orpha.net/en/disease/detail/167 NANDO:1200341 http://nanbyodata.jp/ontology/NANDO_1200341 MONDO:0009338 http://purl.obolibrary.org/obo/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 Orphanet:79124 https://www.orpha.net/en/disease/detail/79124 NANDO:1200337 http://nanbyodata.jp/ontology/NANDO_1200337 MONDO:0009458 http://purl.obolibrary.org/obo/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 Orphanet:1830 https://www.orpha.net/en/disease/detail/1830 NANDO:1200332 http://nanbyodata.jp/ontology/NANDO_1200332 MONDO:0009623 http://purl.obolibrary.org/obo/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 Orphanet:647 https://www.orpha.net/en/disease/detail/647 NANDO:1200358 http://nanbyodata.jp/ontology/NANDO_1200358 MONDO:0009694 http://purl.obolibrary.org/obo/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 Orphanet:2587 https://www.orpha.net/en/disease/detail/2587 NANDO:1200338 http://nanbyodata.jp/ontology/NANDO_1200338 MONDO:0009735 http://purl.obolibrary.org/obo/MONDO_0009735 http://www.w3.org/2004/02/skos/core#exactMatch ネザートン症候群 Netherton syndrome Orphanet:634 https://www.orpha.net/en/disease/detail/634 NANDO:1200356 http://nanbyodata.jp/ontology/NANDO_1200356 MONDO:0009833 http://purl.obolibrary.org/obo/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 Orphanet:811 https://www.orpha.net/en/disease/detail/811 NANDO:1200322 http://nanbyodata.jp/ontology/NANDO_1200322 MONDO:0009973 http://purl.obolibrary.org/obo/MONDO_0009973 http://www.w3.org/2004/02/skos/core#exactMatch 細網異形成症 reticular dysgenesis Orphanet:33355 https://www.orpha.net/en/disease/detail/33355 NANDO:1200327 http://nanbyodata.jp/ontology/NANDO_1200327 MONDO:0010023 http://purl.obolibrary.org/obo/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 Orphanet:911 https://www.orpha.net/en/disease/detail/911 NANDO:1200280 http://nanbyodata.jp/ontology/NANDO_1200280 MONDO:0010030 http://purl.obolibrary.org/obo/MONDO_0010030 http://www.w3.org/2004/02/skos/core#closeMatch シェーグレン症候群 Sjogren syndrome Orphanet:289390 https://www.orpha.net/en/disease/detail/289390 NANDO:1200279 http://nanbyodata.jp/ontology/NANDO_1200279 MONDO:0010030 http://purl.obolibrary.org/obo/MONDO_0010030 http://www.w3.org/2004/02/skos/core#exactMatch シェーグレン症候群 Sjogren syndrome Orphanet:289390 https://www.orpha.net/en/disease/detail/289390 NANDO:1200317 http://nanbyodata.jp/ontology/NANDO_1200317 MONDO:0010122 http://purl.obolibrary.org/obo/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 Orphanet:93583 https://www.orpha.net/en/disease/detail/93583 NANDO:1200360 http://nanbyodata.jp/ontology/NANDO_1200360 MONDO:0010293 http://purl.obolibrary.org/obo/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 Orphanet:98813 https://www.orpha.net/en/disease/detail/98813 NANDO:1200321 http://nanbyodata.jp/ontology/NANDO_1200321 MONDO:0010315 http://purl.obolibrary.org/obo/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 Orphanet:276 https://www.orpha.net/en/disease/detail/276 NANDO:1200343 http://nanbyodata.jp/ontology/NANDO_1200343 MONDO:0010421 http://purl.obolibrary.org/obo/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 Orphanet:47 https://www.orpha.net/en/disease/detail/47 NANDO:1200330 http://nanbyodata.jp/ontology/NANDO_1200330 MONDO:0010518 http://purl.obolibrary.org/obo/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 Orphanet:906 https://www.orpha.net/en/disease/detail/906 NANDO:1200351 http://nanbyodata.jp/ontology/NANDO_1200351 MONDO:0010627 http://purl.obolibrary.org/obo/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 Orphanet:2442 https://www.orpha.net/en/disease/detail/2442 NANDO:1200324 http://nanbyodata.jp/ontology/NANDO_1200324 MONDO:0011338 http://purl.obolibrary.org/obo/MONDO_0011338 http://www.w3.org/2004/02/skos/core#exactMatch オーメン症候群 Omenn syndrome Orphanet:39041 https://www.orpha.net/en/disease/detail/39041 NANDO:1200328 http://nanbyodata.jp/ontology/NANDO_1200328 MONDO:0011476 http://purl.obolibrary.org/obo/MONDO_0011476 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスI欠損症 MHC class I deficiency Orphanet:34592 https://www.orpha.net/en/disease/detail/34592 NANDO:1200361 http://nanbyodata.jp/ontology/NANDO_1200361 MONDO:0011888 http://purl.obolibrary.org/obo/MONDO_0011888 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症67 immunodeficiency 67 Orphanet:70592 https://www.orpha.net/en/disease/detail/70592 NANDO:1200326 http://nanbyodata.jp/ontology/NANDO_1200326 MONDO:0012161 http://purl.obolibrary.org/obo/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 Orphanet:169085 https://www.orpha.net/en/disease/detail/169085 NANDO:1200296 http://nanbyodata.jp/ontology/NANDO_1200296 MONDO:0012197 http://purl.obolibrary.org/obo/MONDO_0012197 http://www.w3.org/2004/02/skos/core#exactMatch 特発性再生不良性貧血 idiopathic aplastic anemia Orphanet:88 https://www.orpha.net/en/disease/detail/88 NANDO:1200336 http://nanbyodata.jp/ontology/NANDO_1200336 MONDO:0012764 http://purl.obolibrary.org/obo/MONDO_0012764 http://www.w3.org/2004/02/skos/core#exactMatch RIDDLE症候群 RIDDLE syndrome Orphanet:420741 https://www.orpha.net/en/disease/detail/420741 NANDO:1200362 http://nanbyodata.jp/ontology/NANDO_1200362 MONDO:0012839 http://purl.obolibrary.org/obo/MONDO_0012839 http://www.w3.org/2004/02/skos/core#exactMatch MyD88欠損症 pyogenic bacterial infections due to MyD88 deficiency Orphanet:183713 https://www.orpha.net/en/disease/detail/183713 NANDO:1200325 http://nanbyodata.jp/ontology/NANDO_1200325 MONDO:0013171 http://purl.obolibrary.org/obo/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 Orphanet:760 https://www.orpha.net/en/disease/detail/760 NANDO:1200301 http://nanbyodata.jp/ontology/NANDO_1200301 MONDO:0013851 http://purl.obolibrary.org/obo/MONDO_0013851 http://www.w3.org/2004/02/skos/core#closeMatch MDSとの境界型 autosomal dominant aplasia and myelodysplasia Orphanet:314399 https://www.orpha.net/en/disease/detail/314399 NANDO:1200363 http://nanbyodata.jp/ontology/NANDO_1200363 MONDO:0015279 http://purl.obolibrary.org/obo/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 Orphanet:1334 https://www.orpha.net/en/disease/detail/1334 NANDO:1200344 http://nanbyodata.jp/ontology/NANDO_1200344 MONDO:0015517 http://purl.obolibrary.org/obo/MONDO_0015517 http://www.w3.org/2004/02/skos/core#exactMatch 分類不能型免疫不全症 common variable immunodeficiency Orphanet:1572 https://www.orpha.net/en/disease/detail/1572 NANDO:1200349 http://nanbyodata.jp/ontology/NANDO_1200349 MONDO:0015698 http://purl.obolibrary.org/obo/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 Orphanet:169139 https://www.orpha.net/en/disease/detail/169139 NANDO:1200304 http://nanbyodata.jp/ontology/NANDO_1200304 MONDO:0015780 http://purl.obolibrary.org/obo/MONDO_0015780 http://www.w3.org/2004/02/skos/core#exactMatch 先天性角化異常症 dyskeratosis congenita Orphanet:1775 https://www.orpha.net/en/disease/detail/1775 NANDO:1200301 http://nanbyodata.jp/ontology/NANDO_1200301 MONDO:0015909 http://purl.obolibrary.org/obo/MONDO_0015909 http://www.w3.org/2004/02/skos/core#closeMatch 再生不良性貧血 aplastic anemia Orphanet:182040 https://www.orpha.net/en/disease/detail/182040 NANDO:1200295 http://nanbyodata.jp/ontology/NANDO_1200295 MONDO:0015909 http://purl.obolibrary.org/obo/MONDO_0015909 http://www.w3.org/2004/02/skos/core#exactMatch 再生不良性貧血 aplastic anemia Orphanet:182040 https://www.orpha.net/en/disease/detail/182040 NANDO:1200310 http://nanbyodata.jp/ontology/NANDO_1200310 MONDO:0016030 http://purl.obolibrary.org/obo/MONDO_0016030 http://www.w3.org/2004/02/skos/core#exactMatch エヴァンズ症候群 Evans syndrome Orphanet:1959 https://www.orpha.net/en/disease/detail/1959 NANDO:1200294 http://nanbyodata.jp/ontology/NANDO_1200294 MONDO:0016345 http://purl.obolibrary.org/obo/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 Orphanet:217720 https://www.orpha.net/en/disease/detail/217720 NANDO:1200274 http://nanbyodata.jp/ontology/NANDO_1200274 MONDO:0016367 http://purl.obolibrary.org/obo/MONDO_0016367 http://www.w3.org/2004/02/skos/core#exactMatch 皮膚筋炎 dermatomyositis Orphanet:221 https://www.orpha.net/en/disease/detail/221 NANDO:1200355 http://nanbyodata.jp/ontology/NANDO_1200355 MONDO:0017570 http://purl.obolibrary.org/obo/MONDO_0017570 http://www.w3.org/2004/02/skos/core#exactMatch 白血球接着不全症 leukocyte adhesion deficiency Orphanet:2968 https://www.orpha.net/en/disease/detail/2968 NANDO:1200352 http://nanbyodata.jp/ontology/NANDO_1200352 MONDO:0017979 http://purl.obolibrary.org/obo/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 Orphanet:3261 https://www.orpha.net/en/disease/detail/3261 NANDO:1200340 http://nanbyodata.jp/ontology/NANDO_1200340 MONDO:0018037 http://purl.obolibrary.org/obo/MONDO_0018037 http://www.w3.org/2004/02/skos/core#exactMatch 高IgE症候群 hyper-IgE syndrome Orphanet:331223 https://www.orpha.net/en/disease/detail/331223 NANDO:1200357 http://nanbyodata.jp/ontology/NANDO_1200357 MONDO:0018305 http://purl.obolibrary.org/obo/MONDO_0018305 http://www.w3.org/2004/02/skos/core#exactMatch 慢性肉芽腫症 chronic granulomatous disease Orphanet:379 https://www.orpha.net/en/disease/detail/379 NANDO:1200353 http://nanbyodata.jp/ontology/NANDO_1200353 MONDO:0018542 http://purl.obolibrary.org/obo/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 Orphanet:42738 https://www.orpha.net/en/disease/detail/42738 NANDO:1200316 http://nanbyodata.jp/ontology/NANDO_1200316 MONDO:0018896 http://purl.obolibrary.org/obo/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 Orphanet:54057 https://www.orpha.net/en/disease/detail/54057 NANDO:1200307 http://nanbyodata.jp/ontology/NANDO_1200307 MONDO:0018922 http://purl.obolibrary.org/obo/MONDO_0018922 http://www.w3.org/2004/02/skos/core#exactMatch 寒冷凝集素症 cold agglutinin disease Orphanet:56425 https://www.orpha.net/en/disease/detail/56425 NANDO:1200339 http://nanbyodata.jp/ontology/NANDO_1200339 MONDO:0018923 http://purl.obolibrary.org/obo/MONDO_0018923 http://www.w3.org/2004/02/skos/core#closeMatch 22q11.2欠失症候群 22q11.2 deletion syndrome Orphanet:567 https://www.orpha.net/en/disease/detail/567 NANDO:1200283 http://nanbyodata.jp/ontology/NANDO_1200283 MONDO:0019125 http://purl.obolibrary.org/obo/MONDO_0019125 http://www.w3.org/2004/02/skos/core#exactMatch 再発性多発軟骨炎 relapsing polychondritis Orphanet:728 https://www.orpha.net/en/disease/detail/728 NANDO:1200276 http://nanbyodata.jp/ontology/NANDO_1200276 MONDO:0019127 http://purl.obolibrary.org/obo/MONDO_0019127 http://www.w3.org/2004/02/skos/core#exactMatch 多発性筋炎 polymyositis Orphanet:732 https://www.orpha.net/en/disease/detail/732 NANDO:1200359 http://nanbyodata.jp/ontology/NANDO_1200359 MONDO:0019146 http://purl.obolibrary.org/obo/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 Orphanet:748 https://www.orpha.net/en/disease/detail/748 NANDO:1200282 http://nanbyodata.jp/ontology/NANDO_1200282 MONDO:0019355 http://purl.obolibrary.org/obo/MONDO_0019355 http://www.w3.org/2004/02/skos/core#exactMatch 成人スチル病 adult-onset Still disease Orphanet:829 https://www.orpha.net/en/disease/detail/829 NANDO:1200306 http://nanbyodata.jp/ontology/NANDO_1200306 MONDO:0019532 http://purl.obolibrary.org/obo/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 Orphanet:90033 https://www.orpha.net/en/disease/detail/90033 NANDO:1200308 http://nanbyodata.jp/ontology/NANDO_1200308 MONDO:0019533 http://purl.obolibrary.org/obo/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 Orphanet:90035 https://www.orpha.net/en/disease/detail/90035 NANDO:1200309 http://nanbyodata.jp/ontology/NANDO_1200309 MONDO:0019534 http://purl.obolibrary.org/obo/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 Orphanet:90036 https://www.orpha.net/en/disease/detail/90036 NANDO:1200365 http://nanbyodata.jp/ontology/NANDO_1200365 MONDO:0019623 http://purl.obolibrary.org/obo/MONDO_0019623 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性血管性浮腫 hereditary angioedema Orphanet:91378 https://www.orpha.net/en/disease/detail/91378 NANDO:1200319 http://nanbyodata.jp/ontology/NANDO_1200319 MONDO:0019740 http://purl.obolibrary.org/obo/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 Orphanet:93585 https://www.orpha.net/en/disease/detail/93585 NANDO:1200318 http://nanbyodata.jp/ontology/NANDO_1200318 MONDO:0019740 http://purl.obolibrary.org/obo/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 Orphanet:93585 https://www.orpha.net/en/disease/detail/93585 NANDO:1200305 http://nanbyodata.jp/ontology/NANDO_1200305 MONDO:0020108 http://purl.obolibrary.org/obo/MONDO_0020108 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性溶血性貧血 autoimmune hemolytic anemia Orphanet:98375 https://www.orpha.net/en/disease/detail/98375 NANDO:1200275 http://nanbyodata.jp/ontology/NANDO_1200275 MONDO:0043317 http://purl.obolibrary.org/obo/MONDO_0043317 http://www.w3.org/2004/02/skos/core#exactMatch 無筋炎型皮膚筋炎 amyopathic dermatomyositis Orphanet:645617 https://www.orpha.net/en/disease/detail/645617 NANDO:1200416 http://nanbyodata.jp/ontology/NANDO_1200416 MONDO:0002429 http://purl.obolibrary.org/obo/MONDO_0002429 http://www.w3.org/2004/02/skos/core#exactMatch 特発性間質性肺炎 idiopathic interstitial pneumonia Orphanet:98300 https://www.orpha.net/en/disease/detail/98300 NANDO:1200368 http://nanbyodata.jp/ontology/NANDO_1200368 MONDO:0004691 http://purl.obolibrary.org/obo/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 Orphanet:730 https://www.orpha.net/en/disease/detail/730 NANDO:1200439 http://nanbyodata.jp/ontology/NANDO_1200439 MONDO:0005388 http://purl.obolibrary.org/obo/MONDO_0005388 http://www.w3.org/2004/02/skos/core#exactMatch 原発性胆汁性胆管炎 primary biliary cholangitis Orphanet:186 https://www.orpha.net/en/disease/detail/186 NANDO:1200385 http://nanbyodata.jp/ontology/NANDO_1200385 MONDO:0006238 http://purl.obolibrary.org/obo/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 Orphanet:96256 https://www.orpha.net/en/disease/detail/96256 NANDO:1200386 http://nanbyodata.jp/ontology/NANDO_1200386 MONDO:0006238 http://purl.obolibrary.org/obo/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 Orphanet:96256 https://www.orpha.net/en/disease/detail/96256 NANDO:1200375 http://nanbyodata.jp/ontology/NANDO_1200375 MONDO:0007450 http://purl.obolibrary.org/obo/MONDO_0007450 http://www.w3.org/2004/02/skos/core#exactMatch 神経下垂体性尿崩症 neurohypophyseal diabetes insipidus Orphanet:30925 https://www.orpha.net/en/disease/detail/30925 NANDO:1200398 http://nanbyodata.jp/ontology/NANDO_1200398 MONDO:0008727 http://purl.obolibrary.org/obo/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 Orphanet:90791 https://www.orpha.net/en/disease/detail/90791 NANDO:1200399 http://nanbyodata.jp/ontology/NANDO_1200399 MONDO:0008728 http://purl.obolibrary.org/obo/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 Orphanet:90794 https://www.orpha.net/en/disease/detail/90794 NANDO:1200400 http://nanbyodata.jp/ontology/NANDO_1200400 MONDO:0008729 http://purl.obolibrary.org/obo/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 Orphanet:90795 https://www.orpha.net/en/disease/detail/90795 NANDO:1200401 http://nanbyodata.jp/ontology/NANDO_1200401 MONDO:0008730 http://purl.obolibrary.org/obo/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 Orphanet:90793 https://www.orpha.net/en/disease/detail/90793 NANDO:1200379 http://nanbyodata.jp/ontology/NANDO_1200379 MONDO:0009050 http://purl.obolibrary.org/obo/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 Orphanet:96253 https://www.orpha.net/en/disease/detail/96253 NANDO:1200410 http://nanbyodata.jp/ontology/NANDO_1200410 MONDO:0009279 http://purl.obolibrary.org/obo/MONDO_0009279 http://www.w3.org/2004/02/skos/core#exactMatch AAA症候群 triple-A syndrome Orphanet:869 https://www.orpha.net/en/disease/detail/869 NANDO:1200424 http://nanbyodata.jp/ontology/NANDO_1200424 MONDO:0009537 http://purl.obolibrary.org/obo/MONDO_0009537 http://www.w3.org/2004/02/skos/core#exactMatch リンパ球性間質性肺炎 lymphoid interstitial pneumonia Orphanet:79128 https://www.orpha.net/en/disease/detail/79128 NANDO:1200423 http://nanbyodata.jp/ontology/NANDO_1200423 MONDO:0009887 http://purl.obolibrary.org/obo/MONDO_0009887 http://www.w3.org/2004/02/skos/core#closeMatch 剥離性間質性肺炎 desquamative interstitial pneumonia Orphanet:98852 https://www.orpha.net/en/disease/detail/98852 NANDO:1200422 http://nanbyodata.jp/ontology/NANDO_1200422 MONDO:0009887 http://purl.obolibrary.org/obo/MONDO_0009887 http://www.w3.org/2004/02/skos/core#exactMatch 剥離性間質性肺炎 desquamative interstitial pneumonia Orphanet:98852 https://www.orpha.net/en/disease/detail/98852 NANDO:1200369 http://nanbyodata.jp/ontology/NANDO_1200369 MONDO:0009889 http://purl.obolibrary.org/obo/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 Orphanet:731 https://www.orpha.net/en/disease/detail/731 NANDO:1200427 http://nanbyodata.jp/ontology/NANDO_1200427 MONDO:0009937 http://purl.obolibrary.org/obo/MONDO_0009937 http://www.w3.org/2004/02/skos/core#exactMatch 肺静脈閉塞症 pulmonary venoocclusive disease Orphanet:31837 https://www.orpha.net/en/disease/detail/31837 NANDO:1200403 http://nanbyodata.jp/ontology/NANDO_1200403 MONDO:0010264 http://purl.obolibrary.org/obo/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 Orphanet:95702 https://www.orpha.net/en/disease/detail/95702 NANDO:1200378 http://nanbyodata.jp/ontology/NANDO_1200378 MONDO:0010911 http://purl.obolibrary.org/obo/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 Orphanet:2965 https://www.orpha.net/en/disease/detail/2965 NANDO:1200437 http://nanbyodata.jp/ontology/NANDO_1200437 MONDO:0010947 http://purl.obolibrary.org/obo/MONDO_0010947 http://www.w3.org/2004/02/skos/core#exactMatch バッド・キアリ症候群 Budd-Chiari syndrome Orphanet:131 https://www.orpha.net/en/disease/detail/131 NANDO:1200373 http://nanbyodata.jp/ontology/NANDO_1200373 MONDO:0012126 http://purl.obolibrary.org/obo/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 Orphanet:86820 https://www.orpha.net/en/disease/detail/86820 NANDO:1200429 http://nanbyodata.jp/ontology/NANDO_1200429 MONDO:0013024 http://purl.obolibrary.org/obo/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 Orphanet:70591 https://www.orpha.net/en/disease/detail/70591 NANDO:1200402 http://nanbyodata.jp/ontology/NANDO_1200402 MONDO:0013310 http://purl.obolibrary.org/obo/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 Orphanet:95699 https://www.orpha.net/en/disease/detail/95699 NANDO:1200440 http://nanbyodata.jp/ontology/NANDO_1200440 MONDO:0013433 http://purl.obolibrary.org/obo/MONDO_0013433 http://www.w3.org/2004/02/skos/core#exactMatch 原発性硬化性胆管炎 primary sclerosing cholangitis Orphanet:171 https://www.orpha.net/en/disease/detail/171 NANDO:1200406 http://nanbyodata.jp/ontology/NANDO_1200406 MONDO:0013873 http://purl.obolibrary.org/obo/MONDO_0013873 http://www.w3.org/2004/02/skos/core#exactMatch IMAge症候群 IMAGe syndrome Orphanet:85173 https://www.orpha.net/en/disease/detail/85173 NANDO:1200411 http://nanbyodata.jp/ontology/NANDO_1200411 MONDO:0015129 http://purl.obolibrary.org/obo/MONDO_0015129 http://www.w3.org/2004/02/skos/core#exactMatch アジソン病 chronic primary adrenal insufficiency Orphanet:101959 https://www.orpha.net/en/disease/detail/101959 NANDO:1200421 http://nanbyodata.jp/ontology/NANDO_1200421 MONDO:0015264 http://purl.obolibrary.org/obo/MONDO_0015264 http://www.w3.org/2004/02/skos/core#exactMatch 特発性器質化肺炎 cryptogenic organizing pneumonia Orphanet:1302 https://www.orpha.net/en/disease/detail/1302 NANDO:1200375 http://nanbyodata.jp/ontology/NANDO_1200375 MONDO:0015790 http://purl.obolibrary.org/obo/MONDO_0015790 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性尿崩症 central diabetes insipidus Orphanet:178029 https://www.orpha.net/en/disease/detail/178029 NANDO:1200425 http://nanbyodata.jp/ontology/NANDO_1200425 MONDO:0015924 http://purl.obolibrary.org/obo/MONDO_0015924 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈性肺高血圧症 pulmonary arterial hypertension Orphanet:182090 https://www.orpha.net/en/disease/detail/182090 NANDO:1200457 http://nanbyodata.jp/ontology/NANDO_1200457 MONDO:0016129 http://purl.obolibrary.org/obo/MONDO_0016129 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性胃腸炎 eosinophilic gastroenteritis Orphanet:2070 https://www.orpha.net/en/disease/detail/2070 NANDO:1200442 http://nanbyodata.jp/ontology/NANDO_1200442 MONDO:0016264 http://purl.obolibrary.org/obo/MONDO_0016264 http://www.w3.org/2004/02/skos/core#closeMatch 自己免疫性肝炎 autoimmune hepatitis Orphanet:2137 https://www.orpha.net/en/disease/detail/2137 NANDO:1200441 http://nanbyodata.jp/ontology/NANDO_1200441 MONDO:0016264 http://purl.obolibrary.org/obo/MONDO_0016264 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性肝炎 autoimmune hepatitis Orphanet:2137 https://www.orpha.net/en/disease/detail/2137 NANDO:1200390 http://nanbyodata.jp/ontology/NANDO_1200390 MONDO:0016410 http://purl.obolibrary.org/obo/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 Orphanet:226298 https://www.orpha.net/en/disease/detail/226298 NANDO:1200458 http://nanbyodata.jp/ontology/NANDO_1200458 MONDO:0017574 http://purl.obolibrary.org/obo/MONDO_0017574 http://www.w3.org/2004/02/skos/core#exactMatch 慢性偽性腸閉塞 chronic intestinal pseudoobstruction Orphanet:2978 https://www.orpha.net/en/disease/detail/2978 NANDO:1200394 http://nanbyodata.jp/ontology/NANDO_1200394 MONDO:0018328 http://purl.obolibrary.org/obo/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 Orphanet:391665 https://www.orpha.net/en/disease/detail/391665 NANDO:1200454 http://nanbyodata.jp/ontology/NANDO_1200454 MONDO:0018438 http://purl.obolibrary.org/obo/MONDO_0018438 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性消化管疾患 eosinophilic gastrointestinal disease Orphanet:402029 https://www.orpha.net/en/disease/detail/402029 NANDO:1200396 http://nanbyodata.jp/ontology/NANDO_1200396 MONDO:0018479 http://purl.obolibrary.org/obo/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 Orphanet:418 https://www.orpha.net/en/disease/detail/418 NANDO:1200397 http://nanbyodata.jp/ontology/NANDO_1200397 MONDO:0018479 http://purl.obolibrary.org/obo/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 Orphanet:418 https://www.orpha.net/en/disease/detail/418 NANDO:1200428 http://nanbyodata.jp/ontology/NANDO_1200428 MONDO:0018554 http://purl.obolibrary.org/obo/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 Orphanet:431353 https://www.orpha.net/en/disease/detail/431353 NANDO:1200426 http://nanbyodata.jp/ontology/NANDO_1200426 MONDO:0018554 http://purl.obolibrary.org/obo/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 Orphanet:431353 https://www.orpha.net/en/disease/detail/431353 NANDO:1200388 http://nanbyodata.jp/ontology/NANDO_1200388 MONDO:0018555 http://purl.obolibrary.org/obo/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 Orphanet:432 https://www.orpha.net/en/disease/detail/432 NANDO:1200440 http://nanbyodata.jp/ontology/NANDO_1200440 MONDO:0018646 http://purl.obolibrary.org/obo/MONDO_0018646 http://www.w3.org/2004/02/skos/core#closeMatch 原発性硬化性胆管炎 sclerosing cholangitis Orphanet:447771 https://www.orpha.net/en/disease/detail/447771 NANDO:1200381 http://nanbyodata.jp/ontology/NANDO_1200381 MONDO:0019165 http://purl.obolibrary.org/obo/MONDO_0019165 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性思春期早発症 central precocious puberty Orphanet:650063 https://www.orpha.net/en/disease/detail/650063 NANDO:1200431 http://nanbyodata.jp/ontology/NANDO_1200431 MONDO:0019200 http://purl.obolibrary.org/obo/MONDO_0019200 http://www.w3.org/2004/02/skos/core#exactMatch 網膜色素変性症 retinitis pigmentosa Orphanet:791 https://www.orpha.net/en/disease/detail/791 NANDO:1200420 http://nanbyodata.jp/ontology/NANDO_1200420 MONDO:0019203 http://purl.obolibrary.org/obo/MONDO_0019203 http://www.w3.org/2004/02/skos/core#exactMatch 急性間質性肺炎 acute interstitial pneumonia Orphanet:79126 https://www.orpha.net/en/disease/detail/79126 NANDO:1200415 http://nanbyodata.jp/ontology/NANDO_1200415 MONDO:0019338 http://purl.obolibrary.org/obo/MONDO_0019338 http://www.w3.org/2004/02/skos/core#exactMatch サルコイドーシス sarcoidosis Orphanet:797 https://www.orpha.net/en/disease/detail/797 NANDO:1200377 http://nanbyodata.jp/ontology/NANDO_1200377 MONDO:0019611 http://purl.obolibrary.org/obo/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 Orphanet:91347 https://www.orpha.net/en/disease/detail/91347 NANDO:1200419 http://nanbyodata.jp/ontology/NANDO_1200419 MONDO:0019622 http://purl.obolibrary.org/obo/MONDO_0019622 http://www.w3.org/2004/02/skos/core#exactMatch 非特異的間質性肺炎 non-specific interstitial pneumonia Orphanet:91364 https://www.orpha.net/en/disease/detail/91364 NANDO:1200522 http://nanbyodata.jp/ontology/NANDO_1200522 MONDO:0000903 http://purl.obolibrary.org/obo/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 Orphanet:36899 https://www.orpha.net/en/disease/detail/36899 NANDO:1200502 http://nanbyodata.jp/ontology/NANDO_1200502 MONDO:0000995 http://purl.obolibrary.org/obo/MONDO_0000995 http://www.w3.org/2004/02/skos/core#exactMatch 家族性周期性四肢麻痺 familial periodic paralysis Orphanet:371433 https://www.orpha.net/en/disease/detail/371433 NANDO:1200491 http://nanbyodata.jp/ontology/NANDO_1200491 MONDO:0001347 http://purl.obolibrary.org/obo/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 Orphanet:269 https://www.orpha.net/en/disease/detail/269 NANDO:1200479 http://nanbyodata.jp/ontology/NANDO_1200479 MONDO:0007294 http://purl.obolibrary.org/obo/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 Orphanet:597 https://www.orpha.net/en/disease/detail/597 NANDO:1200512 http://nanbyodata.jp/ontology/NANDO_1200512 MONDO:0007492 http://purl.obolibrary.org/obo/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 Orphanet:256 https://www.orpha.net/en/disease/detail/256 NANDO:1200515 http://nanbyodata.jp/ontology/NANDO_1200515 MONDO:0007493 http://purl.obolibrary.org/obo/MONDO_0007493 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア4 torsion dystonia 4 Orphanet:98805 https://www.orpha.net/en/disease/detail/98805 NANDO:1200516 http://nanbyodata.jp/ontology/NANDO_1200516 MONDO:0007495 http://purl.obolibrary.org/obo/MONDO_0007495 http://www.w3.org/2004/02/skos/core#closeMatch ジストニア5 dystonia 5 Orphanet:98808 https://www.orpha.net/en/disease/detail/98808 NANDO:1200524 http://nanbyodata.jp/ontology/NANDO_1200524 MONDO:0007496 http://purl.obolibrary.org/obo/MONDO_0007496 http://www.w3.org/2004/02/skos/core#closeMatch ジストニア12 dystonia 12 Orphanet:71517 https://www.orpha.net/en/disease/detail/71517 NANDO:1200523 http://nanbyodata.jp/ontology/NANDO_1200523 MONDO:0007496 http://purl.obolibrary.org/obo/MONDO_0007496 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア12 dystonia 12 Orphanet:71517 https://www.orpha.net/en/disease/detail/71517 NANDO:1200472 http://nanbyodata.jp/ontology/NANDO_1200472 MONDO:0007727 http://purl.obolibrary.org/obo/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 Orphanet:32960 https://www.orpha.net/en/disease/detail/32960 NANDO:1200493 http://nanbyodata.jp/ontology/NANDO_1200493 MONDO:0008116 http://purl.obolibrary.org/obo/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 Orphanet:270 https://www.orpha.net/en/disease/detail/270 NANDO:1200501 http://nanbyodata.jp/ontology/NANDO_1200501 MONDO:0008195 http://purl.obolibrary.org/obo/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 Orphanet:684 https://www.orpha.net/en/disease/detail/684 NANDO:1200503 http://nanbyodata.jp/ontology/NANDO_1200503 MONDO:0008223 http://purl.obolibrary.org/obo/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 Orphanet:681 https://www.orpha.net/en/disease/detail/681 NANDO:1200504 http://nanbyodata.jp/ontology/NANDO_1200504 MONDO:0008224 http://purl.obolibrary.org/obo/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 Orphanet:682 https://www.orpha.net/en/disease/detail/682 NANDO:1200476 http://nanbyodata.jp/ontology/NANDO_1200476 MONDO:0008523 http://purl.obolibrary.org/obo/MONDO_0008523 http://www.w3.org/2004/02/skos/core#exactMatch ブラウ症候群 Blau syndrome Orphanet:90340 https://www.orpha.net/en/disease/detail/90340 NANDO:1200467 http://nanbyodata.jp/ontology/NANDO_1200467 MONDO:0008633 http://purl.obolibrary.org/obo/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 Orphanet:575 https://www.orpha.net/en/disease/detail/575 NANDO:1200464 http://nanbyodata.jp/ontology/NANDO_1200464 MONDO:0008965 http://purl.obolibrary.org/obo/MONDO_0008965 http://www.w3.org/2004/02/skos/core#exactMatch CHARGE症候群 CHARGE syndrome Orphanet:138 https://www.orpha.net/en/disease/detail/138 NANDO:1200463 http://nanbyodata.jp/ontology/NANDO_1200463 MONDO:0009026 http://purl.obolibrary.org/obo/MONDO_0009026 http://www.w3.org/2004/02/skos/core#exactMatch コステロ症候群 Costello syndrome Orphanet:3071 https://www.orpha.net/en/disease/detail/3071 NANDO:1200513 http://nanbyodata.jp/ontology/NANDO_1200513 MONDO:0009141 http://purl.obolibrary.org/obo/MONDO_0009141 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア2 torsion dystonia 2 Orphanet:99657 https://www.orpha.net/en/disease/detail/99657 NANDO:1200534 http://nanbyodata.jp/ontology/NANDO_1200534 MONDO:0009319 http://purl.obolibrary.org/obo/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 Orphanet:157850 https://www.orpha.net/en/disease/detail/157850 NANDO:1200485 http://nanbyodata.jp/ontology/NANDO_1200485 MONDO:0009567 http://purl.obolibrary.org/obo/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 Orphanet:559 https://www.orpha.net/en/disease/detail/559 NANDO:1200494 http://nanbyodata.jp/ontology/NANDO_1200494 MONDO:0009678 http://purl.obolibrary.org/obo/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 Orphanet:272 https://www.orpha.net/en/disease/detail/272 NANDO:1200498 http://nanbyodata.jp/ontology/NANDO_1200498 MONDO:0009710 http://purl.obolibrary.org/obo/MONDO_0009710 http://www.w3.org/2004/02/skos/core#closeMatch トムゼン・ベッカー病 Thomsen and Becker disease Orphanet:614 https://www.orpha.net/en/disease/detail/614 NANDO:1200497 http://nanbyodata.jp/ontology/NANDO_1200497 MONDO:0009710 http://purl.obolibrary.org/obo/MONDO_0009710 http://www.w3.org/2004/02/skos/core#exactMatch トムゼン・ベッカー病 Thomsen and Becker disease Orphanet:614 https://www.orpha.net/en/disease/detail/614 NANDO:1200483 http://nanbyodata.jp/ontology/NANDO_1200483 MONDO:0009711 http://purl.obolibrary.org/obo/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 Orphanet:2020 https://www.orpha.net/en/disease/detail/2020 NANDO:1200489 http://nanbyodata.jp/ontology/NANDO_1200489 MONDO:0010311 http://purl.obolibrary.org/obo/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 Orphanet:98895 https://www.orpha.net/en/disease/detail/98895 NANDO:1200488 http://nanbyodata.jp/ontology/NANDO_1200488 MONDO:0010679 http://purl.obolibrary.org/obo/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 Orphanet:98896 https://www.orpha.net/en/disease/detail/98896 NANDO:1200514 http://nanbyodata.jp/ontology/NANDO_1200514 MONDO:0010747 http://purl.obolibrary.org/obo/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 Orphanet:53351 https://www.orpha.net/en/disease/detail/53351 NANDO:1200544 http://nanbyodata.jp/ontology/NANDO_1200544 MONDO:0010829 http://purl.obolibrary.org/obo/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 Orphanet:199354 https://www.orpha.net/en/disease/detail/199354 NANDO:1200520 http://nanbyodata.jp/ontology/NANDO_1200520 MONDO:0010983 http://purl.obolibrary.org/obo/MONDO_0010983 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア9 dystonia 9 Orphanet:53583 https://www.orpha.net/en/disease/detail/53583 NANDO:1200526 http://nanbyodata.jp/ontology/NANDO_1200526 MONDO:0011038 http://purl.obolibrary.org/obo/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 Orphanet:1171 https://www.orpha.net/en/disease/detail/1171 NANDO:1200517 http://nanbyodata.jp/ontology/NANDO_1200517 MONDO:0011264 http://purl.obolibrary.org/obo/MONDO_0011264 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア6 torsion dystonia 6 Orphanet:98806 https://www.orpha.net/en/disease/detail/98806 NANDO:1200540 http://nanbyodata.jp/ontology/NANDO_1200540 MONDO:0011426 http://purl.obolibrary.org/obo/MONDO_0011426 http://www.w3.org/2004/02/skos/core#closeMatch NBIA4 aceruloplasminemia Orphanet:48818 https://www.orpha.net/en/disease/detail/48818 NANDO:1200469 http://nanbyodata.jp/ontology/NANDO_1200469 MONDO:0011429 http://purl.obolibrary.org/obo/MONDO_0011429 http://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎 juvenile idiopathic arthritis Orphanet:92 https://www.orpha.net/en/disease/detail/92 NANDO:1200468 http://nanbyodata.jp/ontology/NANDO_1200468 MONDO:0011776 http://purl.obolibrary.org/obo/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 Orphanet:1451 https://www.orpha.net/en/disease/detail/1451 NANDO:1200527 http://nanbyodata.jp/ontology/NANDO_1200527 MONDO:0011886 http://purl.obolibrary.org/obo/MONDO_0011886 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア13 torsion dystonia 13 Orphanet:98807 https://www.orpha.net/en/disease/detail/98807 NANDO:1200529 http://nanbyodata.jp/ontology/NANDO_1200529 MONDO:0012789 http://purl.obolibrary.org/obo/MONDO_0012789 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア16 dystonia 16 Orphanet:210571 https://www.orpha.net/en/disease/detail/210571 NANDO:1200531 http://nanbyodata.jp/ontology/NANDO_1200531 MONDO:0012805 http://purl.obolibrary.org/obo/MONDO_0012805 http://www.w3.org/2004/02/skos/core#exactMatch DYT18ジストニア childhood onset GLUT1 deficiency syndrome 2 Orphanet:98811 https://www.orpha.net/en/disease/detail/98811 NANDO:1200541 http://nanbyodata.jp/ontology/NANDO_1200541 MONDO:0012866 http://purl.obolibrary.org/obo/MONDO_0012866 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性痙性対麻痺35 hereditary spastic paraplegia 35 Orphanet:171629 https://www.orpha.net/en/disease/detail/171629 NANDO:1200530 http://nanbyodata.jp/ontology/NANDO_1200530 MONDO:0012895 http://purl.obolibrary.org/obo/MONDO_0012895 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア17 torsion dystonia 17 Orphanet:370103 https://www.orpha.net/en/disease/detail/370103 NANDO:1200540 http://nanbyodata.jp/ontology/NANDO_1200540 MONDO:0013674 http://purl.obolibrary.org/obo/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 Orphanet:289560 https://www.orpha.net/en/disease/detail/289560 NANDO:1200462 http://nanbyodata.jp/ontology/NANDO_1200462 MONDO:0015280 http://purl.obolibrary.org/obo/MONDO_0015280 http://www.w3.org/2004/02/skos/core#exactMatch 心顔面皮膚症候群 cardiofaciocutaneous syndrome Orphanet:1340 https://www.orpha.net/en/disease/detail/1340 NANDO:1200495 http://nanbyodata.jp/ontology/NANDO_1200495 MONDO:0016107 http://purl.obolibrary.org/obo/MONDO_0016107 http://www.w3.org/2004/02/skos/core#exactMatch 筋強直性ジストロフィー myotonic dystrophy Orphanet:206647 https://www.orpha.net/en/disease/detail/206647 NANDO:1200487 http://nanbyodata.jp/ontology/NANDO_1200487 MONDO:0016147 http://purl.obolibrary.org/obo/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 Orphanet:207085 https://www.orpha.net/en/disease/detail/207085 NANDO:1200465 http://nanbyodata.jp/ontology/NANDO_1200465 MONDO:0016168 http://purl.obolibrary.org/obo/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 Orphanet:208650 https://www.orpha.net/en/disease/detail/208650 NANDO:1200525 http://nanbyodata.jp/ontology/NANDO_1200525 MONDO:0016241 http://purl.obolibrary.org/obo/MONDO_0016241 http://www.w3.org/2004/02/skos/core#exactMatch 小児交互性片麻痺 alternating hemiplegia of childhood Orphanet:2131 https://www.orpha.net/en/disease/detail/2131 NANDO:1200474 http://nanbyodata.jp/ontology/NANDO_1200474 MONDO:0016244 http://purl.obolibrary.org/obo/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 Orphanet:2134 https://www.orpha.net/en/disease/detail/2134 NANDO:1200473 http://nanbyodata.jp/ontology/NANDO_1200473 MONDO:0016244 http://purl.obolibrary.org/obo/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 Orphanet:2134 https://www.orpha.net/en/disease/detail/2134 NANDO:1200535 http://nanbyodata.jp/ontology/NANDO_1200535 MONDO:0016304 http://purl.obolibrary.org/obo/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 Orphanet:216866 https://www.orpha.net/en/disease/detail/216866 NANDO:1200536 http://nanbyodata.jp/ontology/NANDO_1200536 MONDO:0016305 http://purl.obolibrary.org/obo/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 Orphanet:216873 https://www.orpha.net/en/disease/detail/216873 NANDO:1200543 http://nanbyodata.jp/ontology/NANDO_1200543 MONDO:0016594 http://purl.obolibrary.org/obo/MONDO_0016594 http://www.w3.org/2004/02/skos/core#exactMatch 脳表ヘモジデリン沈着症 superficial siderosis Orphanet:247245 https://www.orpha.net/en/disease/detail/247245 NANDO:1200516 http://nanbyodata.jp/ontology/NANDO_1200516 MONDO:0016812 http://purl.obolibrary.org/obo/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 Orphanet:255 https://www.orpha.net/en/disease/detail/255 NANDO:1200492 http://nanbyodata.jp/ontology/NANDO_1200492 MONDO:0016830 http://purl.obolibrary.org/obo/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 Orphanet:261 https://www.orpha.net/en/disease/detail/261 NANDO:1200490 http://nanbyodata.jp/ontology/NANDO_1200490 MONDO:0016971 http://purl.obolibrary.org/obo/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 Orphanet:263 https://www.orpha.net/en/disease/detail/263 NANDO:1200509 http://nanbyodata.jp/ontology/NANDO_1200509 MONDO:0017069 http://purl.obolibrary.org/obo/MONDO_0017069 http://www.w3.org/2004/02/skos/core#closeMatch 脊髄髄膜瘤 spina bifida cystica Orphanet:268744 https://www.orpha.net/en/disease/detail/268744 NANDO:1200507 http://nanbyodata.jp/ontology/NANDO_1200507 MONDO:0017987 http://purl.obolibrary.org/obo/MONDO_0017987 http://www.w3.org/2004/02/skos/core#closeMatch 脊髄空洞症 syringomyelia Orphanet:3280 https://www.orpha.net/en/disease/detail/3280 NANDO:1200506 http://nanbyodata.jp/ontology/NANDO_1200506 MONDO:0017987 http://purl.obolibrary.org/obo/MONDO_0017987 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄空洞症 syringomyelia Orphanet:3280 https://www.orpha.net/en/disease/detail/3280 NANDO:1200541 http://nanbyodata.jp/ontology/NANDO_1200541 MONDO:0017999 http://purl.obolibrary.org/obo/MONDO_0017999 http://www.w3.org/2004/02/skos/core#exactMatch FAHN fatty acid hydroxylase-associated neurodegeneration Orphanet:329308 https://www.orpha.net/en/disease/detail/329308 NANDO:1200539 http://nanbyodata.jp/ontology/NANDO_1200539 MONDO:0018307 http://purl.obolibrary.org/obo/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 Orphanet:385 https://www.orpha.net/en/disease/detail/385 NANDO:1200542 http://nanbyodata.jp/ontology/NANDO_1200542 MONDO:0018307 http://purl.obolibrary.org/obo/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 Orphanet:385 https://www.orpha.net/en/disease/detail/385 NANDO:1200466 http://nanbyodata.jp/ontology/NANDO_1200466 MONDO:0018768 http://purl.obolibrary.org/obo/MONDO_0018768 http://www.w3.org/2004/02/skos/core#exactMatch 家族性寒冷蕁麻疹 familial cold autoinflammatory syndrome Orphanet:47045 https://www.orpha.net/en/disease/detail/47045 NANDO:1200481 http://nanbyodata.jp/ontology/NANDO_1200481 MONDO:0018947 http://purl.obolibrary.org/obo/MONDO_0018947 http://www.w3.org/2004/02/skos/core#closeMatch 中心核ミオパチー centronuclear myopathy Orphanet:595 https://www.orpha.net/en/disease/detail/595 NANDO:1200482 http://nanbyodata.jp/ontology/NANDO_1200482 MONDO:0018947 http://purl.obolibrary.org/obo/MONDO_0018947 http://www.w3.org/2004/02/skos/core#exactMatch 中心核ミオパチー centronuclear myopathy Orphanet:595 https://www.orpha.net/en/disease/detail/595 NANDO:1200480 http://nanbyodata.jp/ontology/NANDO_1200480 MONDO:0018948 http://purl.obolibrary.org/obo/MONDO_0018948 http://www.w3.org/2004/02/skos/core#exactMatch ミニコア病 multiminicore myopathy Orphanet:598 https://www.orpha.net/en/disease/detail/598 NANDO:1200478 http://nanbyodata.jp/ontology/NANDO_1200478 MONDO:0018958 http://purl.obolibrary.org/obo/MONDO_0018958 http://www.w3.org/2004/02/skos/core#exactMatch ネマリンミオパチー nemaline myopathy Orphanet:607 https://www.orpha.net/en/disease/detail/607 NANDO:1200500 http://nanbyodata.jp/ontology/NANDO_1200500 MONDO:0018959 http://purl.obolibrary.org/obo/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 Orphanet:612 https://www.orpha.net/en/disease/detail/612 NANDO:1200461 http://nanbyodata.jp/ontology/NANDO_1200461 MONDO:0019188 http://purl.obolibrary.org/obo/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 Orphanet:783 https://www.orpha.net/en/disease/detail/783 NANDO:1200510 http://nanbyodata.jp/ontology/NANDO_1200510 MONDO:0019399 http://purl.obolibrary.org/obo/MONDO_0019399 http://www.w3.org/2004/02/skos/core#exactMatch アイザックス症候群 Isaac syndrome Orphanet:84142 https://www.orpha.net/en/disease/detail/84142 NANDO:1200471 http://nanbyodata.jp/ontology/NANDO_1200471 MONDO:0019433 http://purl.obolibrary.org/obo/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 Orphanet:85410 https://www.orpha.net/en/disease/detail/85410 NANDO:1200470 http://nanbyodata.jp/ontology/NANDO_1200470 MONDO:0019434 http://purl.obolibrary.org/obo/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 Orphanet:85414 https://www.orpha.net/en/disease/detail/85414 NANDO:1200509 http://nanbyodata.jp/ontology/NANDO_1200509 MONDO:0019773 http://purl.obolibrary.org/obo/MONDO_0019773 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄髄膜瘤 myelomeningocele Orphanet:93969 https://www.orpha.net/en/disease/detail/93969 NANDO:1200477 http://nanbyodata.jp/ontology/NANDO_1200477 MONDO:0019952 http://purl.obolibrary.org/obo/MONDO_0019952 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオパチー congenital myopathy Orphanet:97245 https://www.orpha.net/en/disease/detail/97245 NANDO:1200486 http://nanbyodata.jp/ontology/NANDO_1200486 MONDO:0020121 http://purl.obolibrary.org/obo/MONDO_0020121 http://www.w3.org/2004/02/skos/core#exactMatch 筋ジストロフィー muscular dystrophy Orphanet:98473 https://www.orpha.net/en/disease/detail/98473 NANDO:1200537 http://nanbyodata.jp/ontology/NANDO_1200537 MONDO:0024457 http://purl.obolibrary.org/obo/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 Orphanet:35069 https://www.orpha.net/en/disease/detail/35069 NANDO:1200511 http://nanbyodata.jp/ontology/NANDO_1200511 MONDO:0044807 http://purl.obolibrary.org/obo/MONDO_0044807 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性ジストニア inherited dystonia Orphanet:391799 https://www.orpha.net/en/disease/detail/391799 NANDO:1200607 http://nanbyodata.jp/ontology/NANDO_1200607 MONDO:0001734 http://purl.obolibrary.org/obo/MONDO_0001734 http://www.w3.org/2004/02/skos/core#exactMatch 結節性硬化症 tuberous sclerosis Orphanet:805 https://www.orpha.net/en/disease/detail/805 NANDO:1200613 http://nanbyodata.jp/ontology/NANDO_1200613 MONDO:0007813 http://purl.obolibrary.org/obo/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 Orphanet:455 https://www.orpha.net/en/disease/detail/455 NANDO:1200559 http://nanbyodata.jp/ontology/NANDO_1200559 MONDO:0008006 http://purl.obolibrary.org/obo/MONDO_0008006 http://www.w3.org/2004/02/skos/core#exactMatch メビウス症候群 Mobius syndrome Orphanet:570 https://www.orpha.net/en/disease/detail/570 NANDO:1200547 http://nanbyodata.jp/ontology/NANDO_1200547 MONDO:0008201 http://purl.obolibrary.org/obo/MONDO_0008201 http://www.w3.org/2004/02/skos/core#exactMatch ペリー症候群 Perry syndrome Orphanet:178509 https://www.orpha.net/en/disease/detail/178509 NANDO:1200631 http://nanbyodata.jp/ontology/NANDO_1200631 MONDO:0008218 http://purl.obolibrary.org/obo/MONDO_0008218 http://www.w3.org/2004/02/skos/core#exactMatch ヘイリー・ヘイリー病 Hailey-Hailey disease Orphanet:2841 https://www.orpha.net/en/disease/detail/2841 NANDO:1200560 http://nanbyodata.jp/ontology/NANDO_1200560 MONDO:0008428 http://purl.obolibrary.org/obo/MONDO_0008428 http://www.w3.org/2004/02/skos/core#closeMatch 中隔視神経形成異常症 septooptic dysplasia Orphanet:3157 https://www.orpha.net/en/disease/detail/3157 NANDO:1200606 http://nanbyodata.jp/ontology/NANDO_1200606 MONDO:0008501 http://purl.obolibrary.org/obo/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 Orphanet:3205 https://www.orpha.net/en/disease/detail/3205 NANDO:1200558 http://nanbyodata.jp/ontology/NANDO_1200558 MONDO:0008503 http://purl.obolibrary.org/obo/MONDO_0008503 http://www.w3.org/2004/02/skos/core#exactMatch 先天性核上性球麻痺 Worster-Drought syndrome Orphanet:3465 https://www.orpha.net/en/disease/detail/3465 NANDO:1200554 http://nanbyodata.jp/ontology/NANDO_1200554 MONDO:0008752 http://purl.obolibrary.org/obo/MONDO_0008752 http://www.w3.org/2004/02/skos/core#exactMatch アレキサンダー病 Alexander disease Orphanet:58 https://www.orpha.net/en/disease/detail/58 NANDO:1200614 http://nanbyodata.jp/ontology/NANDO_1200614 MONDO:0009443 http://purl.obolibrary.org/obo/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 Orphanet:457 https://www.orpha.net/en/disease/detail/457 NANDO:1200602 http://nanbyodata.jp/ontology/NANDO_1200602 MONDO:0009509 http://purl.obolibrary.org/obo/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 Orphanet:98818 https://www.orpha.net/en/disease/detail/98818 NANDO:1200553 http://nanbyodata.jp/ontology/NANDO_1200553 MONDO:0009746 http://purl.obolibrary.org/obo/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 Orphanet:642 https://www.orpha.net/en/disease/detail/642 NANDO:1200620 http://nanbyodata.jp/ontology/NANDO_1200620 MONDO:0010031 http://purl.obolibrary.org/obo/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 Orphanet:816 https://www.orpha.net/en/disease/detail/816 NANDO:1200623 http://nanbyodata.jp/ontology/NANDO_1200623 MONDO:0010155 http://purl.obolibrary.org/obo/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 Orphanet:98907 https://www.orpha.net/en/disease/detail/98907 NANDO:1200622 http://nanbyodata.jp/ontology/NANDO_1200622 MONDO:0010155 http://purl.obolibrary.org/obo/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 Orphanet:98907 https://www.orpha.net/en/disease/detail/98907 NANDO:1200599 http://nanbyodata.jp/ontology/NANDO_1200599 MONDO:0010246 http://purl.obolibrary.org/obo/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 Orphanet:101039 https://www.orpha.net/en/disease/detail/101039 NANDO:1200580 http://nanbyodata.jp/ontology/NANDO_1200580 MONDO:0010354 http://purl.obolibrary.org/obo/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 Orphanet:59 https://www.orpha.net/en/disease/detail/59 NANDO:1200562 http://nanbyodata.jp/ontology/NANDO_1200562 MONDO:0010568 http://purl.obolibrary.org/obo/MONDO_0010568 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ症候群 Aicardi syndrome Orphanet:50 https://www.orpha.net/en/disease/detail/50 NANDO:1200625 http://nanbyodata.jp/ontology/NANDO_1200625 MONDO:0010622 http://purl.obolibrary.org/obo/MONDO_0010622 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性潜性魚鱗癬 recessive X-linked ichthyosis Orphanet:461 https://www.orpha.net/en/disease/detail/461 NANDO:1200576 http://nanbyodata.jp/ontology/NANDO_1200576 MONDO:0010714 http://purl.obolibrary.org/obo/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 Orphanet:702 https://www.orpha.net/en/disease/detail/702 NANDO:1200604 http://nanbyodata.jp/ontology/NANDO_1200604 MONDO:0010726 http://purl.obolibrary.org/obo/MONDO_0010726 http://www.w3.org/2004/02/skos/core#closeMatch レット症候群 Rett syndrome Orphanet:778 https://www.orpha.net/en/disease/detail/778 NANDO:1200603 http://nanbyodata.jp/ontology/NANDO_1200603 MONDO:0010726 http://purl.obolibrary.org/obo/MONDO_0010726 http://www.w3.org/2004/02/skos/core#exactMatch レット症候群 Rett syndrome Orphanet:778 https://www.orpha.net/en/disease/detail/778 NANDO:1200550 http://nanbyodata.jp/ontology/NANDO_1200550 MONDO:0010857 http://purl.obolibrary.org/obo/MONDO_0010857 http://www.w3.org/2004/02/skos/core#exactMatch 意味性認知症 semantic dementia Orphanet:100069 https://www.orpha.net/en/disease/detail/100069 NANDO:1200579 http://nanbyodata.jp/ontology/NANDO_1200579 MONDO:0011147 http://purl.obolibrary.org/obo/MONDO_0011147 http://www.w3.org/2004/02/skos/core#exactMatch 18q欠失症候群 chromosome 18q deletion syndrome Orphanet:1600 https://www.orpha.net/en/disease/detail/1600 NANDO:1200579 http://nanbyodata.jp/ontology/NANDO_1200579 MONDO:0011147 http://purl.obolibrary.org/obo/MONDO_0011147 http://www.w3.org/2004/02/skos/core#exactMatch 18q欠失症候群 chromosome 18q deletion syndrome Orphanet:262146 https://www.orpha.net/en/disease/detail/262146 NANDO:1200582 http://nanbyodata.jp/ontology/NANDO_1200582 MONDO:0011449 http://purl.obolibrary.org/obo/MONDO_0011449 http://www.w3.org/2004/02/skos/core#exactMatch サラ病 Salla disease Orphanet:309334 https://www.orpha.net/en/disease/detail/309334 NANDO:1200585 http://nanbyodata.jp/ontology/NANDO_1200585 MONDO:0011897 http://purl.obolibrary.org/obo/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 Orphanet:137639 https://www.orpha.net/en/disease/detail/137639 NANDO:1200586 http://nanbyodata.jp/ontology/NANDO_1200586 MONDO:0012198 http://purl.obolibrary.org/obo/MONDO_0012198 http://www.w3.org/2004/02/skos/core#exactMatch PCWH症候群 PCWH syndrome Orphanet:163746 https://www.orpha.net/en/disease/detail/163746 NANDO:1200584 http://nanbyodata.jp/ontology/NANDO_1200584 MONDO:0012514 http://purl.obolibrary.org/obo/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 Orphanet:85163 https://www.orpha.net/en/disease/detail/85163 NANDO:1200581 http://nanbyodata.jp/ontology/NANDO_1200581 MONDO:0012824 http://purl.obolibrary.org/obo/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 Orphanet:280288 https://www.orpha.net/en/disease/detail/280288 NANDO:1200578 http://nanbyodata.jp/ontology/NANDO_1200578 MONDO:0012905 http://purl.obolibrary.org/obo/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 Orphanet:139441 https://www.orpha.net/en/disease/detail/139441 NANDO:1200597 http://nanbyodata.jp/ontology/NANDO_1200597 MONDO:0015436 http://purl.obolibrary.org/obo/MONDO_0015436 http://www.w3.org/2004/02/skos/core#exactMatch 環状20番染色体 ring chromosome 20 Orphanet:1444 https://www.orpha.net/en/disease/detail/1444 NANDO:1200600 http://nanbyodata.jp/ontology/NANDO_1200600 MONDO:0015584 http://purl.obolibrary.org/obo/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 Orphanet:163703 https://www.orpha.net/en/disease/detail/163703 NANDO:1200622 http://nanbyodata.jp/ontology/NANDO_1200622 MONDO:0015611 http://purl.obolibrary.org/obo/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 Orphanet:165 https://www.orpha.net/en/disease/detail/165 NANDO:1200609 http://nanbyodata.jp/ontology/NANDO_1200609 MONDO:0015947 http://purl.obolibrary.org/obo/MONDO_0015947 http://www.w3.org/2004/02/skos/core#exactMatch 先天性魚鱗癬 inherited ichthyosis Orphanet:183435 https://www.orpha.net/en/disease/detail/183435 NANDO:1200598 http://nanbyodata.jp/ontology/NANDO_1200598 MONDO:0016019 http://purl.obolibrary.org/obo/MONDO_0016019 http://www.w3.org/2004/02/skos/core#exactMatch ラスムッセン脳炎 Rasmussen subacute encephalitis Orphanet:1929 https://www.orpha.net/en/disease/detail/1929 NANDO:1200591 http://nanbyodata.jp/ontology/NANDO_1200591 MONDO:0016532 http://purl.obolibrary.org/obo/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 Orphanet:2382 https://www.orpha.net/en/disease/detail/2382 NANDO:1200565 http://nanbyodata.jp/ontology/NANDO_1200565 MONDO:0017096 http://purl.obolibrary.org/obo/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 Orphanet:268973 https://www.orpha.net/en/disease/detail/268973 NANDO:1200566 http://nanbyodata.jp/ontology/NANDO_1200566 MONDO:0017097 http://purl.obolibrary.org/obo/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 Orphanet:268980 https://www.orpha.net/en/disease/detail/268980 NANDO:1200567 http://nanbyodata.jp/ontology/NANDO_1200567 MONDO:0017098 http://purl.obolibrary.org/obo/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 Orphanet:268987 https://www.orpha.net/en/disease/detail/268987 NANDO:1200568 http://nanbyodata.jp/ontology/NANDO_1200568 MONDO:0017101 http://purl.obolibrary.org/obo/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 Orphanet:269001 https://www.orpha.net/en/disease/detail/269001 NANDO:1200569 http://nanbyodata.jp/ontology/NANDO_1200569 MONDO:0017102 http://purl.obolibrary.org/obo/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 Orphanet:269008 https://www.orpha.net/en/disease/detail/269008 NANDO:1200549 http://nanbyodata.jp/ontology/NANDO_1200549 MONDO:0017160 http://purl.obolibrary.org/obo/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 Orphanet:275864 https://www.orpha.net/en/disease/detail/275864 NANDO:1200577 http://nanbyodata.jp/ontology/NANDO_1200577 MONDO:0017226 http://purl.obolibrary.org/obo/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 Orphanet:280270 https://www.orpha.net/en/disease/detail/280270 NANDO:1200615 http://nanbyodata.jp/ontology/NANDO_1200615 MONDO:0017265 http://purl.obolibrary.org/obo/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 Orphanet:281097 https://www.orpha.net/en/disease/detail/281097 NANDO:1200610 http://nanbyodata.jp/ontology/NANDO_1200610 MONDO:0017266 http://purl.obolibrary.org/obo/MONDO_0017266 http://www.w3.org/2004/02/skos/core#exactMatch ケラチン症性魚鱗癬 keratinopathic ichthyosis Orphanet:281103 https://www.orpha.net/en/disease/detail/281103 NANDO:1200548 http://nanbyodata.jp/ontology/NANDO_1200548 MONDO:0017276 http://purl.obolibrary.org/obo/MONDO_0017276 http://www.w3.org/2004/02/skos/core#exactMatch 前頭側頭葉変性症 frontotemporal dementia Orphanet:282 https://www.orpha.net/en/disease/detail/282 NANDO:1200595 http://nanbyodata.jp/ontology/NANDO_1200595 MONDO:0017385 http://purl.obolibrary.org/obo/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 Orphanet:293181 https://www.orpha.net/en/disease/detail/293181 NANDO:1200605 http://nanbyodata.jp/ontology/NANDO_1200605 MONDO:0017746 http://purl.obolibrary.org/obo/MONDO_0017746 http://www.w3.org/2004/02/skos/core#exactMatch 非典型的レット症候群 atypical Rett syndrome Orphanet:3095 https://www.orpha.net/en/disease/detail/3095 NANDO:1200617 http://nanbyodata.jp/ontology/NANDO_1200617 MONDO:0017778 http://purl.obolibrary.org/obo/MONDO_0017778 http://www.w3.org/2004/02/skos/core#exactMatch 葉状魚鱗癬 lamellar ichthyosis Orphanet:313 https://www.orpha.net/en/disease/detail/313 NANDO:1200627 http://nanbyodata.jp/ontology/NANDO_1200627 MONDO:0018053 http://purl.obolibrary.org/obo/MONDO_0018053 http://www.w3.org/2004/02/skos/core#exactMatch 硫黄欠乏性毛髪発育異常症 trichothiodystrophy Orphanet:33364 https://www.orpha.net/en/disease/detail/33364 NANDO:1200592 http://nanbyodata.jp/ontology/NANDO_1200592 MONDO:0018097 http://purl.obolibrary.org/obo/MONDO_0018097 http://www.w3.org/2004/02/skos/core#exactMatch ウエスト症候群 West syndrome Orphanet:3451 https://www.orpha.net/en/disease/detail/3451 NANDO:1200552 http://nanbyodata.jp/ontology/NANDO_1200552 MONDO:0018198 http://purl.obolibrary.org/obo/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 Orphanet:363549 https://www.orpha.net/en/disease/detail/363549 NANDO:1200555 http://nanbyodata.jp/ontology/NANDO_1200555 MONDO:0018209 http://purl.obolibrary.org/obo/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 Orphanet:363717 https://www.orpha.net/en/disease/detail/363717 NANDO:1200556 http://nanbyodata.jp/ontology/NANDO_1200556 MONDO:0018210 http://purl.obolibrary.org/obo/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 Orphanet:363722 https://www.orpha.net/en/disease/detail/363722 NANDO:1200583 http://nanbyodata.jp/ontology/NANDO_1200583 MONDO:0018655 http://purl.obolibrary.org/obo/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 Orphanet:447893 https://www.orpha.net/en/disease/detail/447893 NANDO:1200634 http://nanbyodata.jp/ontology/NANDO_1200634 MONDO:0018746 http://purl.obolibrary.org/obo/MONDO_0018746 http://www.w3.org/2004/02/skos/core#exactMatch 粘膜類天疱瘡 mucous membrane pemphigoid Orphanet:46486 https://www.orpha.net/en/disease/detail/46486 NANDO:1200621 http://nanbyodata.jp/ontology/NANDO_1200621 MONDO:0018781 http://purl.obolibrary.org/obo/MONDO_0018781 http://www.w3.org/2004/02/skos/core#exactMatch KID症候群 KID syndrome Orphanet:477 https://www.orpha.net/en/disease/detail/477 NANDO:1200574 http://nanbyodata.jp/ontology/NANDO_1200574 MONDO:0018838 http://purl.obolibrary.org/obo/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 Orphanet:48471 https://www.orpha.net/en/disease/detail/48471 NANDO:1200564 http://nanbyodata.jp/ontology/NANDO_1200564 MONDO:0019009 http://purl.obolibrary.org/obo/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 Orphanet:65683 https://www.orpha.net/en/disease/detail/65683 NANDO:1200575 http://nanbyodata.jp/ontology/NANDO_1200575 MONDO:0019046 http://purl.obolibrary.org/obo/MONDO_0019046 http://www.w3.org/2004/02/skos/core#exactMatch 先天性大脳白質形成不全症 leukodystrophy Orphanet:68356 https://www.orpha.net/en/disease/detail/68356 NANDO:1200632 http://nanbyodata.jp/ontology/NANDO_1200632 MONDO:0019082 http://purl.obolibrary.org/obo/MONDO_0019082 http://www.w3.org/2004/02/skos/core#closeMatch 類天疱瘡 bullous pemphigoid Orphanet:703 https://www.orpha.net/en/disease/detail/703 NANDO:1200633 http://nanbyodata.jp/ontology/NANDO_1200633 MONDO:0019082 http://purl.obolibrary.org/obo/MONDO_0019082 http://www.w3.org/2004/02/skos/core#exactMatch 類天疱瘡 bullous pemphigoid Orphanet:703 https://www.orpha.net/en/disease/detail/703 NANDO:1200551 http://nanbyodata.jp/ontology/NANDO_1200551 MONDO:0019208 http://purl.obolibrary.org/obo/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 Orphanet:79138 https://www.orpha.net/en/disease/detail/79138 NANDO:1200618 http://nanbyodata.jp/ontology/NANDO_1200618 MONDO:0019269 http://purl.obolibrary.org/obo/MONDO_0019269 http://www.w3.org/2004/02/skos/core#exactMatch 魚鱗癬症候群 ichthyosis Orphanet:79354 https://www.orpha.net/en/disease/detail/79354 NANDO:1200617 http://nanbyodata.jp/ontology/NANDO_1200617 MONDO:0019306 http://purl.obolibrary.org/obo/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 Orphanet:79394 https://www.orpha.net/en/disease/detail/79394 NANDO:1200616 http://nanbyodata.jp/ontology/NANDO_1200616 MONDO:0019306 http://purl.obolibrary.org/obo/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 Orphanet:79394 https://www.orpha.net/en/disease/detail/79394 NANDO:1200596 http://nanbyodata.jp/ontology/NANDO_1200596 MONDO:0019485 http://purl.obolibrary.org/obo/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 Orphanet:86908 https://www.orpha.net/en/disease/detail/86908 NANDO:1200589 http://nanbyodata.jp/ontology/NANDO_1200589 MONDO:0019487 http://purl.obolibrary.org/obo/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 Orphanet:86911 https://www.orpha.net/en/disease/detail/86911 NANDO:1200608 http://nanbyodata.jp/ontology/NANDO_1200608 MONDO:0019600 http://purl.obolibrary.org/obo/MONDO_0019600 http://www.w3.org/2004/02/skos/core#exactMatch 色素性乾皮症 xeroderma pigmentosum Orphanet:910 https://www.orpha.net/en/disease/detail/910 NANDO:1200588 http://nanbyodata.jp/ontology/NANDO_1200588 MONDO:0020476 http://purl.obolibrary.org/obo/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 Orphanet:99701 https://www.orpha.net/en/disease/detail/99701 NANDO:1200563 http://nanbyodata.jp/ontology/NANDO_1200563 MONDO:0020492 http://purl.obolibrary.org/obo/MONDO_0020492 http://www.w3.org/2004/02/skos/core#exactMatch 片側巨脳症 hemimegalencephaly Orphanet:99802 https://www.orpha.net/en/disease/detail/99802 NANDO:1200630 http://nanbyodata.jp/ontology/NANDO_1200630 MONDO:0020603 http://purl.obolibrary.org/obo/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 Orphanet:35173 https://www.orpha.net/en/disease/detail/35173 NANDO:1200611 http://nanbyodata.jp/ontology/NANDO_1200611 MONDO:0020702 http://purl.obolibrary.org/obo/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 Orphanet:312 https://www.orpha.net/en/disease/detail/312 NANDO:1200612 http://nanbyodata.jp/ontology/NANDO_1200612 MONDO:0044742 http://purl.obolibrary.org/obo/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 Orphanet:512103 https://www.orpha.net/en/disease/detail/512103 NANDO:1200593 http://nanbyodata.jp/ontology/NANDO_1200593 MONDO:0100062 http://purl.obolibrary.org/obo/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 Orphanet:1934 https://www.orpha.net/en/disease/detail/1934 NANDO:1200690 http://nanbyodata.jp/ontology/NANDO_1200690 MONDO:0010382 http://purl.obolibrary.org/obo/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 Orphanet:93256 https://www.orpha.net/en/disease/detail/93256 NANDO:1200649 http://nanbyodata.jp/ontology/NANDO_1200649 MONDO:0016002 http://purl.obolibrary.org/obo/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 Orphanet:1900 https://www.orpha.net/en/disease/detail/1900 NANDO:1200701 http://nanbyodata.jp/ontology/NANDO_1200701 MONDO:0016301 http://purl.obolibrary.org/obo/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 Orphanet:216694 https://www.orpha.net/en/disease/detail/216694 NANDO:1200701 http://nanbyodata.jp/ontology/NANDO_1200701 MONDO:0016303 http://purl.obolibrary.org/obo/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 Orphanet:216729 https://www.orpha.net/en/disease/detail/216729 NANDO:1200675 http://nanbyodata.jp/ontology/NANDO_1200675 MONDO:0018878 http://purl.obolibrary.org/obo/MONDO_0018878 http://www.w3.org/2004/02/skos/core#closeMatch 鰓耳症候群 branchiootic syndrome Orphanet:52429 https://www.orpha.net/en/disease/detail/52429 NANDO:1200641 http://nanbyodata.jp/ontology/NANDO_1200641 MONDO:0018910 http://purl.obolibrary.org/obo/MONDO_0018910 http://www.w3.org/2004/02/skos/core#closeMatch 眼皮膚白皮症 oculocutaneous albinism Orphanet:55 https://www.orpha.net/en/disease/detail/55 NANDO:1200640 http://nanbyodata.jp/ontology/NANDO_1200640 MONDO:0018306 http://purl.obolibrary.org/obo/MONDO_0018306 http://www.w3.org/2004/02/skos/core#exactMatch グリセリ症候群 Griscelli syndrome Orphanet:381 https://www.orpha.net/en/disease/detail/381 NANDO:1200635 http://nanbyodata.jp/ontology/NANDO_1200635 MONDO:0018747 http://purl.obolibrary.org/obo/MONDO_0018747 http://www.w3.org/2004/02/skos/core#exactMatch 後天性表皮水疱症 acquired epidermolysis bullosa Orphanet:46487 https://www.orpha.net/en/disease/detail/46487 NANDO:1200637 http://nanbyodata.jp/ontology/NANDO_1200637 MONDO:0018910 http://purl.obolibrary.org/obo/MONDO_0018910 http://www.w3.org/2004/02/skos/core#exactMatch 眼皮膚白皮症 oculocutaneous albinism Orphanet:55 https://www.orpha.net/en/disease/detail/55 NANDO:1200638 http://nanbyodata.jp/ontology/NANDO_1200638 MONDO:0019312 http://purl.obolibrary.org/obo/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 Orphanet:79430 https://www.orpha.net/en/disease/detail/79430 NANDO:1200705 http://nanbyodata.jp/ontology/NANDO_1200705 MONDO:0004933 http://purl.obolibrary.org/obo/MONDO_0004933 http://www.w3.org/2004/02/skos/core#exactMatch 左心低形成症候群 hypoplastic left heart syndrome Orphanet:2248 https://www.orpha.net/en/disease/detail/2248 NANDO:1200675 http://nanbyodata.jp/ontology/NANDO_1200675 MONDO:0007029 http://purl.obolibrary.org/obo/MONDO_0007029 http://www.w3.org/2004/02/skos/core#exactMatch 鰓耳腎症候群 branchio-oto-renal syndrome Orphanet:107 https://www.orpha.net/en/disease/detail/107 NANDO:1200667 http://nanbyodata.jp/ontology/NANDO_1200667 MONDO:0007041 http://purl.obolibrary.org/obo/MONDO_0007041 http://www.w3.org/2004/02/skos/core#exactMatch アペール症候群 Apert syndrome Orphanet:87 https://www.orpha.net/en/disease/detail/87 NANDO:1200668 http://nanbyodata.jp/ontology/NANDO_1200668 MONDO:0007043 http://purl.obolibrary.org/obo/MONDO_0007043 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群 Pfeiffer syndrome Orphanet:710 https://www.orpha.net/en/disease/detail/710 NANDO:1200686 http://nanbyodata.jp/ontology/NANDO_1200686 MONDO:0007113 http://purl.obolibrary.org/obo/MONDO_0007113 http://www.w3.org/2004/02/skos/core#exactMatch アンジェルマン症候群 Angelman syndrome Orphanet:72 https://www.orpha.net/en/disease/detail/72 NANDO:1200684 http://nanbyodata.jp/ontology/NANDO_1200684 MONDO:0007404 http://purl.obolibrary.org/obo/MONDO_0007404 http://www.w3.org/2004/02/skos/core#exactMatch ネコ鳴き症候群 Cri-du-chat syndrome Orphanet:281 https://www.orpha.net/en/disease/detail/281 NANDO:1200666 http://nanbyodata.jp/ontology/NANDO_1200666 MONDO:0007405 http://purl.obolibrary.org/obo/MONDO_0007405 http://www.w3.org/2004/02/skos/core#exactMatch クルーゾン症候群 Crouzon syndrome Orphanet:207 https://www.orpha.net/en/disease/detail/207 NANDO:1200646 http://nanbyodata.jp/ontology/NANDO_1200646 MONDO:0007522 http://purl.obolibrary.org/obo/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 Orphanet:287 https://www.orpha.net/en/disease/detail/287 NANDO:1200647 http://nanbyodata.jp/ontology/NANDO_1200647 MONDO:0007523 http://purl.obolibrary.org/obo/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 Orphanet:285 https://www.orpha.net/en/disease/detail/285 NANDO:1200650 http://nanbyodata.jp/ontology/NANDO_1200650 MONDO:0007525 http://purl.obolibrary.org/obo/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 Orphanet:1899 https://www.orpha.net/en/disease/detail/1899 NANDO:1200644 http://nanbyodata.jp/ontology/NANDO_1200644 MONDO:0007947 http://purl.obolibrary.org/obo/MONDO_0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome Orphanet:284963 https://www.orpha.net/en/disease/detail/284963 NANDO:1200644 http://nanbyodata.jp/ontology/NANDO_1200644 MONDO:0007947 http://purl.obolibrary.org/obo/MONDO_0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome Orphanet:558 https://www.orpha.net/en/disease/detail/558 NANDO:1200678 http://nanbyodata.jp/ontology/NANDO_1200678 MONDO:0008300 http://purl.obolibrary.org/obo/MONDO_0008300 http://www.w3.org/2004/02/skos/core#exactMatch プラダー・ウィリ症候群 Prader-Willi syndrome Orphanet:739 https://www.orpha.net/en/disease/detail/739 NANDO:1200708 http://nanbyodata.jp/ontology/NANDO_1200708 MONDO:0008343 http://purl.obolibrary.org/obo/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 Orphanet:1207 https://www.orpha.net/en/disease/detail/1207 NANDO:1200687 http://nanbyodata.jp/ontology/NANDO_1200687 MONDO:0008434 http://purl.obolibrary.org/obo/MONDO_0008434 http://www.w3.org/2004/02/skos/core#exactMatch スミス・マゲニス症候群 Smith-Magenis syndrome Orphanet:819 https://www.orpha.net/en/disease/detail/819 NANDO:1200709 http://nanbyodata.jp/ontology/NANDO_1200709 MONDO:0008542 http://purl.obolibrary.org/obo/MONDO_0008542 http://www.w3.org/2004/02/skos/core#exactMatch ファロー四徴症 tetralogy of fallot Orphanet:3303 https://www.orpha.net/en/disease/detail/3303 NANDO:1200657 http://nanbyodata.jp/ontology/NANDO_1200657 MONDO:0008642 http://purl.obolibrary.org/obo/MONDO_0008642 http://www.w3.org/2004/02/skos/core#exactMatch VATER/VATER連合 VACTERL/vater association Orphanet:887 https://www.orpha.net/en/disease/detail/887 NANDO:1200664 http://nanbyodata.jp/ontology/NANDO_1200664 MONDO:0008678 http://purl.obolibrary.org/obo/MONDO_0008678 http://www.w3.org/2004/02/skos/core#exactMatch ウィリアムズ症候群 Williams syndrome Orphanet:904 https://www.orpha.net/en/disease/detail/904 NANDO:1200683 http://nanbyodata.jp/ontology/NANDO_1200683 MONDO:0008684 http://purl.obolibrary.org/obo/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 Orphanet:280 https://www.orpha.net/en/disease/detail/280 NANDO:1200669 http://nanbyodata.jp/ontology/NANDO_1200669 MONDO:0008803 http://purl.obolibrary.org/obo/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 Orphanet:83 https://www.orpha.net/en/disease/detail/83 NANDO:1200658 http://nanbyodata.jp/ontology/NANDO_1200658 MONDO:0009092 http://purl.obolibrary.org/obo/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 Orphanet:2770 https://www.orpha.net/en/disease/detail/2770 NANDO:1200711 http://nanbyodata.jp/ontology/NANDO_1200711 MONDO:0009144 http://purl.obolibrary.org/obo/MONDO_0009144 http://www.w3.org/2004/02/skos/core#exactMatch エプスタイン病 Ebstein anomaly Orphanet:1880 https://www.orpha.net/en/disease/detail/1880 NANDO:1200651 http://nanbyodata.jp/ontology/NANDO_1200651 MONDO:0009161 http://purl.obolibrary.org/obo/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 Orphanet:1901 https://www.orpha.net/en/disease/detail/1901 NANDO:1200663 http://nanbyodata.jp/ontology/NANDO_1200663 MONDO:0009341 http://purl.obolibrary.org/obo/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 Orphanet:2152 https://www.orpha.net/en/disease/detail/2152 NANDO:1200662 http://nanbyodata.jp/ontology/NANDO_1200662 MONDO:0009480 http://purl.obolibrary.org/obo/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 Orphanet:2318 https://www.orpha.net/en/disease/detail/2318 NANDO:1200713 http://nanbyodata.jp/ontology/NANDO_1200713 MONDO:0009627 http://purl.obolibrary.org/obo/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 Orphanet:2065 https://www.orpha.net/en/disease/detail/2065 NANDO:1200707 http://nanbyodata.jp/ontology/NANDO_1200707 MONDO:0009931 http://purl.obolibrary.org/obo/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 Orphanet:1208 https://www.orpha.net/en/disease/detail/1208 NANDO:1200671 http://nanbyodata.jp/ontology/NANDO_1200671 MONDO:0010002 http://purl.obolibrary.org/obo/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 Orphanet:2909 https://www.orpha.net/en/disease/detail/2909 NANDO:1200659 http://nanbyodata.jp/ontology/NANDO_1200659 MONDO:0010193 http://purl.obolibrary.org/obo/MONDO_0010193 http://www.w3.org/2004/02/skos/core#exactMatch ウィーバー症候群 Weaver syndrome Orphanet:3447 https://www.orpha.net/en/disease/detail/3447 NANDO:1200676 http://nanbyodata.jp/ontology/NANDO_1200676 MONDO:0010196 http://purl.obolibrary.org/obo/MONDO_0010196 http://www.w3.org/2004/02/skos/core#exactMatch ウェルナー症候群 Werner syndrome Orphanet:902 https://www.orpha.net/en/disease/detail/902 NANDO:1200655 http://nanbyodata.jp/ontology/NANDO_1200655 MONDO:0010200 http://purl.obolibrary.org/obo/MONDO_0010200 http://www.w3.org/2004/02/skos/core#exactMatch ウィルソン病 Wilson disease Orphanet:905 https://www.orpha.net/en/disease/detail/905 NANDO:1200691 http://nanbyodata.jp/ontology/NANDO_1200691 MONDO:0010382 http://purl.obolibrary.org/obo/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 Orphanet:93256 https://www.orpha.net/en/disease/detail/93256 NANDO:1200692 http://nanbyodata.jp/ontology/NANDO_1200692 MONDO:0010383 http://purl.obolibrary.org/obo/MONDO_0010383 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱X症候群 fragile X syndrome Orphanet:908 https://www.orpha.net/en/disease/detail/908 NANDO:1200665 http://nanbyodata.jp/ontology/NANDO_1200665 MONDO:0010519 http://purl.obolibrary.org/obo/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 Orphanet:847 https://www.orpha.net/en/disease/detail/847 NANDO:1200660 http://nanbyodata.jp/ontology/NANDO_1200660 MONDO:0010561 http://purl.obolibrary.org/obo/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 Orphanet:192 https://www.orpha.net/en/disease/detail/192 NANDO:1200654 http://nanbyodata.jp/ontology/NANDO_1200654 MONDO:0010572 http://purl.obolibrary.org/obo/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 Orphanet:198 https://www.orpha.net/en/disease/detail/198 NANDO:1200653 http://nanbyodata.jp/ontology/NANDO_1200653 MONDO:0010651 http://purl.obolibrary.org/obo/MONDO_0010651 http://www.w3.org/2004/02/skos/core#exactMatch メンケス病 Menkes disease Orphanet:565 https://www.orpha.net/en/disease/detail/565 NANDO:1200681 http://nanbyodata.jp/ontology/NANDO_1200681 MONDO:0011365 http://purl.obolibrary.org/obo/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 Orphanet:3047 https://www.orpha.net/en/disease/detail/3047 NANDO:1200706 http://nanbyodata.jp/ontology/NANDO_1200706 MONDO:0011514 http://purl.obolibrary.org/obo/MONDO_0011514 http://www.w3.org/2004/02/skos/core#exactMatch 三尖弁閉鎖症 tricuspid atresia Orphanet:1209 https://www.orpha.net/en/disease/detail/1209 NANDO:1200682 http://nanbyodata.jp/ontology/NANDO_1200682 MONDO:0011929 http://purl.obolibrary.org/obo/MONDO_0011929 http://www.w3.org/2004/02/skos/core#exactMatch 1p36欠失症候群 chromosome 1p36 deletion syndrome Orphanet:1606 https://www.orpha.net/en/disease/detail/1606 NANDO:1200685 http://nanbyodata.jp/ontology/NANDO_1200685 MONDO:0011975 http://purl.obolibrary.org/obo/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 Orphanet:96334 https://www.orpha.net/en/disease/detail/96334 NANDO:1200689 http://nanbyodata.jp/ontology/NANDO_1200689 MONDO:0012176 http://purl.obolibrary.org/obo/MONDO_0012176 http://www.w3.org/2004/02/skos/core#exactMatch エマヌエル症候群 Emanuel syndrome Orphanet:96170 https://www.orpha.net/en/disease/detail/96170 NANDO:1200661 http://nanbyodata.jp/ontology/NANDO_1200661 MONDO:0015369 http://purl.obolibrary.org/obo/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 Orphanet:140874 https://www.orpha.net/en/disease/detail/140874 NANDO:1200704 http://nanbyodata.jp/ontology/NANDO_1200704 MONDO:0015451 http://purl.obolibrary.org/obo/MONDO_0015451 http://www.w3.org/2004/02/skos/core#exactMatch 単心室症 univentricular heart Orphanet:1464 https://www.orpha.net/en/disease/detail/1464 NANDO:1200670 http://nanbyodata.jp/ontology/NANDO_1200670 MONDO:0015452 http://purl.obolibrary.org/obo/MONDO_0015452 http://www.w3.org/2004/02/skos/core#exactMatch コフィン・シリス症候群 Coffin-Siris syndrome Orphanet:1465 https://www.orpha.net/en/disease/detail/1465 NANDO:1200677 http://nanbyodata.jp/ontology/NANDO_1200677 MONDO:0016006 http://purl.obolibrary.org/obo/MONDO_0016006 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群 Cockayne syndrome Orphanet:191 https://www.orpha.net/en/disease/detail/191 NANDO:1200699 http://nanbyodata.jp/ontology/NANDO_1200699 MONDO:0016301 http://purl.obolibrary.org/obo/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 Orphanet:216694 https://www.orpha.net/en/disease/detail/216694 NANDO:1200672 http://nanbyodata.jp/ontology/NANDO_1200672 MONDO:0016512 http://purl.obolibrary.org/obo/MONDO_0016512 http://www.w3.org/2004/02/skos/core#exactMatch 歌舞伎症候群 Kabuki syndrome Orphanet:2322 https://www.orpha.net/en/disease/detail/2322 NANDO:1200642 http://nanbyodata.jp/ontology/NANDO_1200642 MONDO:0016620 http://purl.obolibrary.org/obo/MONDO_0016620 http://www.w3.org/2004/02/skos/core#exactMatch 肥厚性皮膚骨膜症 primary hypertrophic osteoarthropathy Orphanet:248095 https://www.orpha.net/en/disease/detail/248095 NANDO:1200642 http://nanbyodata.jp/ontology/NANDO_1200642 MONDO:0016620 http://purl.obolibrary.org/obo/MONDO_0016620 http://www.w3.org/2004/02/skos/core#exactMatch 肥厚性皮膚骨膜症 primary hypertrophic osteoarthropathy Orphanet:2796 https://www.orpha.net/en/disease/detail/2796 NANDO:1200648 http://nanbyodata.jp/ontology/NANDO_1200648 MONDO:0017314 http://purl.obolibrary.org/obo/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 Orphanet:286 https://www.orpha.net/en/disease/detail/286 NANDO:1200693 http://nanbyodata.jp/ontology/NANDO_1200693 MONDO:0018072 http://purl.obolibrary.org/obo/MONDO_0018072 http://www.w3.org/2004/02/skos/core#exactMatch 総動脈幹遺残症 persistent truncus arteriosus Orphanet:3384 https://www.orpha.net/en/disease/detail/3384 NANDO:1200710 http://nanbyodata.jp/ontology/NANDO_1200710 MONDO:0018089 http://purl.obolibrary.org/obo/MONDO_0018089 http://www.w3.org/2004/02/skos/core#exactMatch 両大血管右室起始症 double outlet right ventricle Orphanet:3426 https://www.orpha.net/en/disease/detail/3426 NANDO:1200656 http://nanbyodata.jp/ontology/NANDO_1200656 MONDO:0018570 http://purl.obolibrary.org/obo/MONDO_0018570 http://www.w3.org/2004/02/skos/core#exactMatch 低ホスファターゼ症 hypophosphatasia Orphanet:436 https://www.orpha.net/en/disease/detail/436 NANDO:1200688 http://nanbyodata.jp/ontology/NANDO_1200688 MONDO:0018923 http://purl.obolibrary.org/obo/MONDO_0018923 http://www.w3.org/2004/02/skos/core#exactMatch 22q11.2欠失症候群 22q11.2 deletion syndrome Orphanet:567 https://www.orpha.net/en/disease/detail/567 NANDO:1200712 http://nanbyodata.jp/ontology/NANDO_1200712 MONDO:0018965 http://purl.obolibrary.org/obo/MONDO_0018965 http://www.w3.org/2004/02/skos/core#exactMatch アルポート症候群 Alport syndrome Orphanet:63 https://www.orpha.net/en/disease/detail/63 NANDO:1200680 http://nanbyodata.jp/ontology/NANDO_1200680 MONDO:0018997 http://purl.obolibrary.org/obo/MONDO_0018997 http://www.w3.org/2004/02/skos/core#exactMatch ヌーナン症候群 Noonan syndrome Orphanet:648 https://www.orpha.net/en/disease/detail/648 NANDO:1200679 http://nanbyodata.jp/ontology/NANDO_1200679 MONDO:0019349 http://purl.obolibrary.org/obo/MONDO_0019349 http://www.w3.org/2004/02/skos/core#exactMatch ソトス症候群 Sotos syndrome Orphanet:821 https://www.orpha.net/en/disease/detail/821 NANDO:1200698 http://nanbyodata.jp/ontology/NANDO_1200698 MONDO:0019443 http://purl.obolibrary.org/obo/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 Orphanet:860 https://www.orpha.net/en/disease/detail/860 NANDO:1200645 http://nanbyodata.jp/ontology/NANDO_1200645 MONDO:0020066 http://purl.obolibrary.org/obo/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 Orphanet:98249 https://www.orpha.net/en/disease/detail/98249 NANDO:1200802 http://nanbyodata.jp/ontology/NANDO_1200802 MONDO:0004739 http://purl.obolibrary.org/obo/MONDO_0004739 http://www.w3.org/2004/02/skos/core#exactMatch 尿素サイクル異常症 urea cycle disorder Orphanet:79167 https://www.orpha.net/en/disease/detail/79167 NANDO:1200751 http://nanbyodata.jp/ontology/NANDO_1200751 MONDO:0008346 http://purl.obolibrary.org/obo/MONDO_0008346 http://www.w3.org/2004/02/skos/core#exactMatch 肺血鉄症 pulmonary hemosiderosis Orphanet:99931 https://www.orpha.net/en/disease/detail/99931 NANDO:1200763 http://nanbyodata.jp/ontology/NANDO_1200763 MONDO:0008972 http://purl.obolibrary.org/obo/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 Orphanet:309789 https://www.orpha.net/en/disease/detail/309789 NANDO:1200771 http://nanbyodata.jp/ontology/NANDO_1200771 MONDO:0009112 http://purl.obolibrary.org/obo/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 Orphanet:309796 https://www.orpha.net/en/disease/detail/309796 NANDO:1200800 http://nanbyodata.jp/ontology/NANDO_1200800 MONDO:0009281 http://purl.obolibrary.org/obo/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 Orphanet:25 https://www.orpha.net/en/disease/detail/25 NANDO:1200801 http://nanbyodata.jp/ontology/NANDO_1200801 MONDO:0009282 http://purl.obolibrary.org/obo/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 Orphanet:26791 https://www.orpha.net/en/disease/detail/26791 NANDO:1200717 http://nanbyodata.jp/ontology/NANDO_1200717 MONDO:0009303 http://purl.obolibrary.org/obo/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 Orphanet:375 https://www.orpha.net/en/disease/detail/375 NANDO:1200718 http://nanbyodata.jp/ontology/NANDO_1200718 MONDO:0009303 http://purl.obolibrary.org/obo/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 Orphanet:375 https://www.orpha.net/en/disease/detail/375 NANDO:1200803 http://nanbyodata.jp/ontology/NANDO_1200803 MONDO:0009376 http://purl.obolibrary.org/obo/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 Orphanet:147 https://www.orpha.net/en/disease/detail/147 NANDO:1200798 http://nanbyodata.jp/ontology/NANDO_1200798 MONDO:0009475 http://purl.obolibrary.org/obo/MONDO_0009475 http://www.w3.org/2004/02/skos/core#exactMatch イソ吉草酸血症 isovaleric acidemia Orphanet:33 https://www.orpha.net/en/disease/detail/33 NANDO:1200791 http://nanbyodata.jp/ontology/NANDO_1200791 MONDO:0009563 http://purl.obolibrary.org/obo/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 Orphanet:511 https://www.orpha.net/en/disease/detail/511 NANDO:1200794 http://nanbyodata.jp/ontology/NANDO_1200794 MONDO:0009612 http://purl.obolibrary.org/obo/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 Orphanet:27 https://www.orpha.net/en/disease/detail/27 NANDO:1200795 http://nanbyodata.jp/ontology/NANDO_1200795 MONDO:0009613 http://purl.obolibrary.org/obo/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 Orphanet:79310 https://www.orpha.net/en/disease/detail/79310 NANDO:1200796 http://nanbyodata.jp/ontology/NANDO_1200796 MONDO:0009614 http://purl.obolibrary.org/obo/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 Orphanet:79311 https://www.orpha.net/en/disease/detail/79311 NANDO:1200773 http://nanbyodata.jp/ontology/NANDO_1200773 MONDO:0009823 http://purl.obolibrary.org/obo/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 Orphanet:93598 https://www.orpha.net/en/disease/detail/93598 NANDO:1200766 http://nanbyodata.jp/ontology/NANDO_1200766 MONDO:0009855 http://purl.obolibrary.org/obo/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 Orphanet:300 https://www.orpha.net/en/disease/detail/300 NANDO:1200785 http://nanbyodata.jp/ontology/NANDO_1200785 MONDO:0009861 http://purl.obolibrary.org/obo/MONDO_0009861 http://www.w3.org/2004/02/skos/core#closeMatch フェニルケトン尿症 phenylketonuria Orphanet:716 https://www.orpha.net/en/disease/detail/716 NANDO:1200784 http://nanbyodata.jp/ontology/NANDO_1200784 MONDO:0009861 http://purl.obolibrary.org/obo/MONDO_0009861 http://www.w3.org/2004/02/skos/core#exactMatch フェニルケトン尿症 phenylketonuria Orphanet:716 https://www.orpha.net/en/disease/detail/716 NANDO:1200765 http://nanbyodata.jp/ontology/NANDO_1200765 MONDO:0009919 http://purl.obolibrary.org/obo/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 Orphanet:2971 https://www.orpha.net/en/disease/detail/2971 NANDO:1200782 http://nanbyodata.jp/ontology/NANDO_1200782 MONDO:0009924 http://purl.obolibrary.org/obo/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 Orphanet:289157 https://www.orpha.net/en/disease/detail/289157 NANDO:1200769 http://nanbyodata.jp/ontology/NANDO_1200769 MONDO:0009958 http://purl.obolibrary.org/obo/MONDO_0009958 http://www.w3.org/2004/02/skos/core#exactMatch 成人レフサム病 adult Refsum disease Orphanet:773 https://www.orpha.net/en/disease/detail/773 NANDO:1200789 http://nanbyodata.jp/ontology/NANDO_1200789 MONDO:0010160 http://purl.obolibrary.org/obo/MONDO_0010160 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症II型 tyrosinemia type II Orphanet:28378 https://www.orpha.net/en/disease/detail/28378 NANDO:1200788 http://nanbyodata.jp/ontology/NANDO_1200788 MONDO:0010161 http://purl.obolibrary.org/obo/MONDO_0010161 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症I型 tyrosinemia type I Orphanet:882 https://www.orpha.net/en/disease/detail/882 NANDO:1200790 http://nanbyodata.jp/ontology/NANDO_1200790 MONDO:0010162 http://purl.obolibrary.org/obo/MONDO_0010162 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症III型 tyrosinemia type III Orphanet:69723 https://www.orpha.net/en/disease/detail/69723 NANDO:1200797 http://nanbyodata.jp/ontology/NANDO_1200797 MONDO:0010185 http://purl.obolibrary.org/obo/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 Orphanet:79283 https://www.orpha.net/en/disease/detail/79283 NANDO:1200779 http://nanbyodata.jp/ontology/NANDO_1200779 MONDO:0010619 http://purl.obolibrary.org/obo/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 Orphanet:89936 https://www.orpha.net/en/disease/detail/89936 NANDO:1200772 http://nanbyodata.jp/ontology/NANDO_1200772 MONDO:0010823 http://purl.obolibrary.org/obo/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 Orphanet:309803 https://www.orpha.net/en/disease/detail/309803 NANDO:1200792 http://nanbyodata.jp/ontology/NANDO_1200792 MONDO:0011628 http://purl.obolibrary.org/obo/MONDO_0011628 http://www.w3.org/2004/02/skos/core#exactMatch プロピオン酸血症 propionic acidemia Orphanet:35 https://www.orpha.net/en/disease/detail/35 NANDO:1200799 http://nanbyodata.jp/ontology/NANDO_1200799 MONDO:0011724 http://purl.obolibrary.org/obo/MONDO_0011724 http://www.w3.org/2004/02/skos/core#closeMatch GLUT1欠損による脳症 encephalopathy due to GLUT1 deficiency Orphanet:71277 https://www.orpha.net/en/disease/detail/71277 NANDO:1200748 http://nanbyodata.jp/ontology/NANDO_1200748 MONDO:0012579 http://purl.obolibrary.org/obo/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 Orphanet:747 https://www.orpha.net/en/disease/detail/747 NANDO:1200747 http://nanbyodata.jp/ontology/NANDO_1200747 MONDO:0012579 http://purl.obolibrary.org/obo/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 Orphanet:747 https://www.orpha.net/en/disease/detail/747 NANDO:1200746 http://nanbyodata.jp/ontology/NANDO_1200746 MONDO:0012580 http://purl.obolibrary.org/obo/MONDO_0012580 http://www.w3.org/2004/02/skos/core#closeMatch 肺胞蛋白症 hereditary pulmonary alveolar proteinosis Orphanet:264675 https://www.orpha.net/en/disease/detail/264675 NANDO:1200750 http://nanbyodata.jp/ontology/NANDO_1200750 MONDO:0012580 http://purl.obolibrary.org/obo/MONDO_0012580 http://www.w3.org/2004/02/skos/core#exactMatch 肺胞蛋白症 hereditary pulmonary alveolar proteinosis Orphanet:264675 https://www.orpha.net/en/disease/detail/264675 NANDO:1200755 http://nanbyodata.jp/ontology/NANDO_1200755 MONDO:0013282 http://purl.obolibrary.org/obo/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 Orphanet:60 https://www.orpha.net/en/disease/detail/60 NANDO:1200767 http://nanbyodata.jp/ontology/NANDO_1200767 MONDO:0013391 http://purl.obolibrary.org/obo/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 Orphanet:163684 https://www.orpha.net/en/disease/detail/163684 NANDO:1200774 http://nanbyodata.jp/ontology/NANDO_1200774 MONDO:0013571 http://purl.obolibrary.org/obo/MONDO_0013571 http://www.w3.org/2004/02/skos/core#exactMatch アカタラセミア acatalasia Orphanet:926 https://www.orpha.net/en/disease/detail/926 NANDO:1200726 http://nanbyodata.jp/ontology/NANDO_1200726 MONDO:0014005 http://purl.obolibrary.org/obo/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 Orphanet:329903 https://www.orpha.net/en/disease/detail/329903 NANDO:1200745 http://nanbyodata.jp/ontology/NANDO_1200745 MONDO:0015265 http://purl.obolibrary.org/obo/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 Orphanet:1303 https://www.orpha.net/en/disease/detail/1303 NANDO:1200756 http://nanbyodata.jp/ontology/NANDO_1200756 MONDO:0015285 http://purl.obolibrary.org/obo/MONDO_0015285 http://www.w3.org/2004/02/skos/core#exactMatch カーニー複合 Carney complex Orphanet:1359 https://www.orpha.net/en/disease/detail/1359 NANDO:1200742 http://nanbyodata.jp/ontology/NANDO_1200742 MONDO:0016383 http://purl.obolibrary.org/obo/MONDO_0016383 http://www.w3.org/2004/02/skos/core#exactMatch 先天性腎性尿崩症 nephrogenic diabetes insipidus Orphanet:223 https://www.orpha.net/en/disease/detail/223 NANDO:1200786 http://nanbyodata.jp/ontology/NANDO_1200786 MONDO:0016543 http://purl.obolibrary.org/obo/MONDO_0016543 http://www.w3.org/2004/02/skos/core#exactMatch BH4欠損症 hyperphenylalaninemia due to tetrahydrobiopterin deficiency Orphanet:238583 https://www.orpha.net/en/disease/detail/238583 NANDO:1200787 http://nanbyodata.jp/ontology/NANDO_1200787 MONDO:0017389 http://purl.obolibrary.org/obo/MONDO_0017389 http://www.w3.org/2004/02/skos/core#exactMatch BH4反応性高Phe血症 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Orphanet:293284 https://www.orpha.net/en/disease/detail/293284 NANDO:1200770 http://nanbyodata.jp/ontology/NANDO_1200770 MONDO:0017986 http://purl.obolibrary.org/obo/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 Orphanet:3276 https://www.orpha.net/en/disease/detail/3276 NANDO:1200757 http://nanbyodata.jp/ontology/NANDO_1200757 MONDO:0018105 http://purl.obolibrary.org/obo/MONDO_0018105 http://www.w3.org/2004/02/skos/core#exactMatch ウォルフラム症候群 Wolfram syndrome Orphanet:3463 https://www.orpha.net/en/disease/detail/3463 NANDO:1200719 http://nanbyodata.jp/ontology/NANDO_1200719 MONDO:0018170 http://purl.obolibrary.org/obo/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 Orphanet:357502 https://www.orpha.net/en/disease/detail/357502 NANDO:1200743 http://nanbyodata.jp/ontology/NANDO_1200743 MONDO:0018301 http://purl.obolibrary.org/obo/MONDO_0018301 http://www.w3.org/2004/02/skos/core#exactMatch 間質性膀胱炎(ハンナ型) interstitial cystitis Orphanet:37202 https://www.orpha.net/en/disease/detail/37202 NANDO:1200749 http://nanbyodata.jp/ontology/NANDO_1200749 MONDO:0018483 http://purl.obolibrary.org/obo/MONDO_0018483 http://www.w3.org/2004/02/skos/core#exactMatch 続発性肺胞蛋白症 secondary pulmonary alveolar proteinosis Orphanet:420259 https://www.orpha.net/en/disease/detail/420259 NANDO:1200725 http://nanbyodata.jp/ontology/NANDO_1200725 MONDO:0018904 http://purl.obolibrary.org/obo/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 Orphanet:54370 https://www.orpha.net/en/disease/detail/54370 NANDO:1200758 http://nanbyodata.jp/ontology/NANDO_1200758 MONDO:0019053 http://purl.obolibrary.org/obo/MONDO_0019053 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム病 peroxisomal disease Orphanet:68373 https://www.orpha.net/en/disease/detail/68373 NANDO:1200744 http://nanbyodata.jp/ontology/NANDO_1200744 MONDO:0019180 http://purl.obolibrary.org/obo/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 Orphanet:774 https://www.orpha.net/en/disease/detail/774 NANDO:1200764 http://nanbyodata.jp/ontology/NANDO_1200764 MONDO:0019233 http://purl.obolibrary.org/obo/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 Orphanet:79188 https://www.orpha.net/en/disease/detail/79188 NANDO:1200759 http://nanbyodata.jp/ontology/NANDO_1200759 MONDO:0019234 http://purl.obolibrary.org/obo/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 Orphanet:79189 https://www.orpha.net/en/disease/detail/79189 NANDO:1200760 http://nanbyodata.jp/ontology/NANDO_1200760 MONDO:0019609 http://purl.obolibrary.org/obo/MONDO_0019609 http://www.w3.org/2004/02/skos/core#exactMatch ツェルベーガー症候群 Zellweger spectrum disorders Orphanet:912 https://www.orpha.net/en/disease/detail/912 NANDO:1200783 http://nanbyodata.jp/ontology/NANDO_1200783 MONDO:0019642 http://purl.obolibrary.org/obo/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 Orphanet:93160 https://www.orpha.net/en/disease/detail/93160 NANDO:1200739 http://nanbyodata.jp/ontology/NANDO_1200739 MONDO:0019736 http://purl.obolibrary.org/obo/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 Orphanet:93571 https://www.orpha.net/en/disease/detail/93571 NANDO:1200776 http://nanbyodata.jp/ontology/NANDO_1200776 MONDO:0019992 http://purl.obolibrary.org/obo/MONDO_0019992 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症 pseudohypoparathyroidism Orphanet:97593 https://www.orpha.net/en/disease/detail/97593 NANDO:1200838 http://nanbyodata.jp/ontology/NANDO_1200838 MONDO:0002412 http://purl.obolibrary.org/obo/MONDO_0002412 http://www.w3.org/2004/02/skos/core#closeMatch 糖原質代謝障害 disorder of glycogen metabolism Orphanet:79201 https://www.orpha.net/en/disease/detail/79201 NANDO:1200840 http://nanbyodata.jp/ontology/NANDO_1200840 MONDO:0002413 http://purl.obolibrary.org/obo/MONDO_0002413 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病I型 glycogen storage disease I Orphanet:364 https://www.orpha.net/en/disease/detail/364 NANDO:1200877 http://nanbyodata.jp/ontology/NANDO_1200877 MONDO:0007037 http://purl.obolibrary.org/obo/MONDO_0007037 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨無形成症 Achondroplasia Orphanet:15 https://www.orpha.net/en/disease/detail/15 NANDO:1200888 http://nanbyodata.jp/ontology/NANDO_1200888 MONDO:0007109 http://purl.obolibrary.org/obo/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 Orphanet:98870 https://www.orpha.net/en/disease/detail/98870 NANDO:1200813 http://nanbyodata.jp/ontology/NANDO_1200813 MONDO:0007369 http://purl.obolibrary.org/obo/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 Orphanet:79273 https://www.orpha.net/en/disease/detail/79273 NANDO:1200878 http://nanbyodata.jp/ontology/NANDO_1200878 MONDO:0007414 http://purl.obolibrary.org/obo/MONDO_0007414 http://www.w3.org/2004/02/skos/core#exactMatch ゴーハム・スタウト病 Gorham-Stout disease Orphanet:73 https://www.orpha.net/en/disease/detail/73 NANDO:1200871 http://nanbyodata.jp/ontology/NANDO_1200871 MONDO:0007606 http://purl.obolibrary.org/obo/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 Orphanet:337 https://www.orpha.net/en/disease/detail/337 NANDO:1200884 http://nanbyodata.jp/ontology/NANDO_1200884 MONDO:0007864 http://purl.obolibrary.org/obo/MONDO_0007864 http://www.w3.org/2004/02/skos/core#exactMatch 血管骨肥大症候群 angioosteohypertrophic syndrome Orphanet:2346 https://www.orpha.net/en/disease/detail/2346 NANDO:1200884 http://nanbyodata.jp/ontology/NANDO_1200884 MONDO:0007864 http://purl.obolibrary.org/obo/MONDO_0007864 http://www.w3.org/2004/02/skos/core#exactMatch 血管骨肥大症候群 angioosteohypertrophic syndrome Orphanet:90308 https://www.orpha.net/en/disease/detail/90308 NANDO:1200812 http://nanbyodata.jp/ontology/NANDO_1200812 MONDO:0008294 http://purl.obolibrary.org/obo/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 Orphanet:79276 https://www.orpha.net/en/disease/detail/79276 NANDO:1200814 http://nanbyodata.jp/ontology/NANDO_1200814 MONDO:0008297 http://purl.obolibrary.org/obo/MONDO_0008297 http://www.w3.org/2004/02/skos/core#exactMatch 異型ポルフィリン症 variegate porphyria Orphanet:79473 https://www.orpha.net/en/disease/detail/79473 NANDO:1200875 http://nanbyodata.jp/ontology/NANDO_1200875 MONDO:0008546 http://purl.obolibrary.org/obo/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 Orphanet:1860 https://www.orpha.net/en/disease/detail/1860 NANDO:1200876 http://nanbyodata.jp/ontology/NANDO_1200876 MONDO:0008547 http://purl.obolibrary.org/obo/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 Orphanet:93274 https://www.orpha.net/en/disease/detail/93274 NANDO:1200857 http://nanbyodata.jp/ontology/NANDO_1200857 MONDO:0008692 http://purl.obolibrary.org/obo/MONDO_0008692 http://www.w3.org/2004/02/skos/core#exactMatch 無βリポタンパク血症 abetalipoproteinemia Orphanet:14 https://www.orpha.net/en/disease/detail/14 NANDO:1200854 http://nanbyodata.jp/ontology/NANDO_1200854 MONDO:0008783 http://purl.obolibrary.org/obo/MONDO_0008783 http://www.w3.org/2004/02/skos/core#exactMatch タンジール病 Tangier disease Orphanet:31150 https://www.orpha.net/en/disease/detail/31150 NANDO:1200807 http://nanbyodata.jp/ontology/NANDO_1200807 MONDO:0008814 http://purl.obolibrary.org/obo/MONDO_0008814 http://www.w3.org/2004/02/skos/core#exactMatch 高アルギニン血症 hyperargininemia Orphanet:90 https://www.orpha.net/en/disease/detail/90 NANDO:1200806 http://nanbyodata.jp/ontology/NANDO_1200806 MONDO:0008815 http://purl.obolibrary.org/obo/MONDO_0008815 http://www.w3.org/2004/02/skos/core#exactMatch アルギニノコハク酸尿症 argininosuccinic aciduria Orphanet:23 https://www.orpha.net/en/disease/detail/23 NANDO:1200853 http://nanbyodata.jp/ontology/NANDO_1200853 MONDO:0008863 http://purl.obolibrary.org/obo/MONDO_0008863 http://www.w3.org/2004/02/skos/core#exactMatch シトステロール血症 sitosterolemia Orphanet:2882 https://www.orpha.net/en/disease/detail/2882 NANDO:1200856 http://nanbyodata.jp/ontology/NANDO_1200856 MONDO:0008948 http://purl.obolibrary.org/obo/MONDO_0008948 http://www.w3.org/2004/02/skos/core#exactMatch 脳腱黄色腫症 cerebrotendinous xanthomatosis Orphanet:909 https://www.orpha.net/en/disease/detail/909 NANDO:1200805 http://nanbyodata.jp/ontology/NANDO_1200805 MONDO:0008988 http://purl.obolibrary.org/obo/MONDO_0008988 http://www.w3.org/2004/02/skos/core#exactMatch シトルリン血症I型 citrullinemia type I Orphanet:247525 https://www.orpha.net/en/disease/detail/247525 NANDO:1200809 http://nanbyodata.jp/ontology/NANDO_1200809 MONDO:0009109 http://purl.obolibrary.org/obo/MONDO_0009109 http://www.w3.org/2004/02/skos/core#exactMatch リジン尿性蛋白不耐症 lysinuric protein intolerance Orphanet:470 https://www.orpha.net/en/disease/detail/470 NANDO:1200887 http://nanbyodata.jp/ontology/NANDO_1200887 MONDO:0009134 http://purl.obolibrary.org/obo/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 Orphanet:98873 https://www.orpha.net/en/disease/detail/98873 NANDO:1200810 http://nanbyodata.jp/ontology/NANDO_1200810 MONDO:0009238 http://purl.obolibrary.org/obo/MONDO_0009238 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性葉酸吸収不全症 hereditary folate malabsorption Orphanet:90045 https://www.orpha.net/en/disease/detail/90045 NANDO:1200851 http://nanbyodata.jp/ontology/NANDO_1200851 MONDO:0009258 http://purl.obolibrary.org/obo/MONDO_0009258 http://www.w3.org/2004/02/skos/core#exactMatch 古典型ガラクトース血症 classic galactosemia Orphanet:79239 https://www.orpha.net/en/disease/detail/79239 NANDO:1200841 http://nanbyodata.jp/ontology/NANDO_1200841 MONDO:0009288 http://purl.obolibrary.org/obo/MONDO_0009288 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病Ib glycogen storage disease Ib Orphanet:79259 https://www.orpha.net/en/disease/detail/79259 NANDO:1200825 http://nanbyodata.jp/ontology/NANDO_1200825 MONDO:0009290 http://purl.obolibrary.org/obo/MONDO_0009290 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病II glycogen storage disease II Orphanet:365 https://www.orpha.net/en/disease/detail/365 NANDO:1200844 http://nanbyodata.jp/ontology/NANDO_1200844 MONDO:0009291 http://purl.obolibrary.org/obo/MONDO_0009291 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病III glycogen storage disease III Orphanet:366 https://www.orpha.net/en/disease/detail/366 NANDO:1200826 http://nanbyodata.jp/ontology/NANDO_1200826 MONDO:0009291 http://purl.obolibrary.org/obo/MONDO_0009291 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病III glycogen storage disease III Orphanet:366 https://www.orpha.net/en/disease/detail/366 NANDO:1200850 http://nanbyodata.jp/ontology/NANDO_1200850 MONDO:0009292 http://purl.obolibrary.org/obo/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 Orphanet:367 https://www.orpha.net/en/disease/detail/367 NANDO:1200827 http://nanbyodata.jp/ontology/NANDO_1200827 MONDO:0009292 http://purl.obolibrary.org/obo/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 Orphanet:367 https://www.orpha.net/en/disease/detail/367 NANDO:1200828 http://nanbyodata.jp/ontology/NANDO_1200828 MONDO:0009293 http://purl.obolibrary.org/obo/MONDO_0009293 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病V glycogen storage disease V Orphanet:368 https://www.orpha.net/en/disease/detail/368 NANDO:1200846 http://nanbyodata.jp/ontology/NANDO_1200846 MONDO:0009294 http://purl.obolibrary.org/obo/MONDO_0009294 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VI glycogen storage disease VI Orphanet:369 https://www.orpha.net/en/disease/detail/369 NANDO:1200823 http://nanbyodata.jp/ontology/NANDO_1200823 MONDO:0009295 http://purl.obolibrary.org/obo/MONDO_0009295 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病VII glycogen storage disease VII Orphanet:371 https://www.orpha.net/en/disease/detail/371 NANDO:1200829 http://nanbyodata.jp/ontology/NANDO_1200829 MONDO:0009295 http://purl.obolibrary.org/obo/MONDO_0009295 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VII glycogen storage disease VII Orphanet:371 https://www.orpha.net/en/disease/detail/371 NANDO:1200808 http://nanbyodata.jp/ontology/NANDO_1200808 MONDO:0009377 http://purl.obolibrary.org/obo/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 Orphanet:927 https://www.orpha.net/en/disease/detail/927 NANDO:1200838 http://nanbyodata.jp/ontology/NANDO_1200838 MONDO:0009414 http://purl.obolibrary.org/obo/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 Orphanet:2089 https://www.orpha.net/en/disease/detail/2089 NANDO:1200824 http://nanbyodata.jp/ontology/NANDO_1200824 MONDO:0009414 http://purl.obolibrary.org/obo/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 Orphanet:2089 https://www.orpha.net/en/disease/detail/2089 NANDO:1200852 http://nanbyodata.jp/ontology/NANDO_1200852 MONDO:0009515 http://purl.obolibrary.org/obo/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 Orphanet:79293 https://www.orpha.net/en/disease/detail/79293 NANDO:1200822 http://nanbyodata.jp/ontology/NANDO_1200822 MONDO:0009665 http://purl.obolibrary.org/obo/MONDO_0009665 http://www.w3.org/2004/02/skos/core#exactMatch ビオチニダーゼ欠損症 biotinidase deficiency Orphanet:79241 https://www.orpha.net/en/disease/detail/79241 NANDO:1200821 http://nanbyodata.jp/ontology/NANDO_1200821 MONDO:0009666 http://purl.obolibrary.org/obo/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 Orphanet:79242 https://www.orpha.net/en/disease/detail/79242 NANDO:1200867 http://nanbyodata.jp/ontology/NANDO_1200867 MONDO:0009726 http://purl.obolibrary.org/obo/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 Orphanet:324977 https://www.orpha.net/en/disease/detail/324977 NANDO:1200869 http://nanbyodata.jp/ontology/NANDO_1200869 MONDO:0009813 http://purl.obolibrary.org/obo/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 Orphanet:324964 https://www.orpha.net/en/disease/detail/324964 NANDO:1200866 http://nanbyodata.jp/ontology/NANDO_1200866 MONDO:0009849 http://purl.obolibrary.org/obo/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 Orphanet:343 https://www.orpha.net/en/disease/detail/343 NANDO:1200832 http://nanbyodata.jp/ontology/NANDO_1200832 MONDO:0009865 http://purl.obolibrary.org/obo/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 Orphanet:97234 https://www.orpha.net/en/disease/detail/97234 NANDO:1200848 http://nanbyodata.jp/ontology/NANDO_1200848 MONDO:0009868 http://purl.obolibrary.org/obo/MONDO_0009868 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXb glycogen storage disease IXb Orphanet:79240 https://www.orpha.net/en/disease/detail/79240 NANDO:1200817 http://nanbyodata.jp/ontology/NANDO_1200817 MONDO:0009902 http://purl.obolibrary.org/obo/MONDO_0009902 http://www.w3.org/2004/02/skos/core#exactMatch 皮膚ポルフィリン症 cutaneous porphyria Orphanet:79277 https://www.orpha.net/en/disease/detail/79277 NANDO:1200830 http://nanbyodata.jp/ontology/NANDO_1200830 MONDO:0010362 http://purl.obolibrary.org/obo/MONDO_0010362 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXd glycogen storage disease IXd Orphanet:715 https://www.orpha.net/en/disease/detail/715 NANDO:1200831 http://nanbyodata.jp/ontology/NANDO_1200831 MONDO:0010392 http://purl.obolibrary.org/obo/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 Orphanet:713 https://www.orpha.net/en/disease/detail/713 NANDO:1200818 http://nanbyodata.jp/ontology/NANDO_1200818 MONDO:0010420 http://purl.obolibrary.org/obo/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 Orphanet:443197 https://www.orpha.net/en/disease/detail/443197 NANDO:1200804 http://nanbyodata.jp/ontology/NANDO_1200804 MONDO:0010703 http://purl.obolibrary.org/obo/MONDO_0010703 http://www.w3.org/2004/02/skos/core#exactMatch OTC欠損症 ornithine carbamoyltransferase deficiency Orphanet:664 https://www.orpha.net/en/disease/detail/664 NANDO:1200868 http://nanbyodata.jp/ontology/NANDO_1200868 MONDO:0011462 http://purl.obolibrary.org/obo/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 Orphanet:69126 https://www.orpha.net/en/disease/detail/69126 NANDO:1200862 http://nanbyodata.jp/ontology/NANDO_1200862 MONDO:0012104 http://purl.obolibrary.org/obo/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 Orphanet:79087 https://www.orpha.net/en/disease/detail/79087 NANDO:1200866 http://nanbyodata.jp/ontology/NANDO_1200866 MONDO:0012481 http://purl.obolibrary.org/obo/MONDO_0012481 http://www.w3.org/2004/02/skos/core#closeMatch 高IgD症候群 mevalonic aciduria Orphanet:29 https://www.orpha.net/en/disease/detail/29 NANDO:1200834 http://nanbyodata.jp/ontology/NANDO_1200834 MONDO:0012747 http://purl.obolibrary.org/obo/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 Orphanet:57 https://www.orpha.net/en/disease/detail/57 NANDO:1200835 http://nanbyodata.jp/ontology/NANDO_1200835 MONDO:0013046 http://purl.obolibrary.org/obo/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 Orphanet:99849 https://www.orpha.net/en/disease/detail/99849 NANDO:1200833 http://nanbyodata.jp/ontology/NANDO_1200833 MONDO:0013047 http://purl.obolibrary.org/obo/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 Orphanet:284426 https://www.orpha.net/en/disease/detail/284426 NANDO:1200837 http://nanbyodata.jp/ontology/NANDO_1200837 MONDO:0013291 http://purl.obolibrary.org/obo/MONDO_0013291 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病XV glycogen storage disease XV Orphanet:263297 https://www.orpha.net/en/disease/detail/263297 NANDO:1200836 http://nanbyodata.jp/ontology/NANDO_1200836 MONDO:0013968 http://purl.obolibrary.org/obo/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 Orphanet:319646 https://www.orpha.net/en/disease/detail/319646 NANDO:1200816 http://nanbyodata.jp/ontology/NANDO_1200816 MONDO:0015104 http://purl.obolibrary.org/obo/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 Orphanet:101330 https://www.orpha.net/en/disease/detail/101330 NANDO:1200820 http://nanbyodata.jp/ontology/NANDO_1200820 MONDO:0015454 http://purl.obolibrary.org/obo/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 Orphanet:148 https://www.orpha.net/en/disease/detail/148 NANDO:1200874 http://nanbyodata.jp/ontology/NANDO_1200874 MONDO:0017042 http://purl.obolibrary.org/obo/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 Orphanet:2655 https://www.orpha.net/en/disease/detail/2655 NANDO:1200863 http://nanbyodata.jp/ontology/NANDO_1200863 MONDO:0018088 http://purl.obolibrary.org/obo/MONDO_0018088 http://www.w3.org/2004/02/skos/core#exactMatch 家族性地中海熱 familial Mediterranean fever Orphanet:342 https://www.orpha.net/en/disease/detail/342 NANDO:1200859 http://nanbyodata.jp/ontology/NANDO_1200859 MONDO:0018883 http://purl.obolibrary.org/obo/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 Orphanet:528 https://www.orpha.net/en/disease/detail/528 NANDO:1200852 http://nanbyodata.jp/ontology/NANDO_1200852 MONDO:0018999 http://purl.obolibrary.org/obo/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 Orphanet:650 https://www.orpha.net/en/disease/detail/650 NANDO:1200873 http://nanbyodata.jp/ontology/NANDO_1200873 MONDO:0019019 http://purl.obolibrary.org/obo/MONDO_0019019 http://www.w3.org/2004/02/skos/core#exactMatch 骨形成不全症 osteogenesis imperfecta Orphanet:666 https://www.orpha.net/en/disease/detail/666 NANDO:1200860 http://nanbyodata.jp/ontology/NANDO_1200860 MONDO:0019193 http://purl.obolibrary.org/obo/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 Orphanet:79086 https://www.orpha.net/en/disease/detail/79086 NANDO:1200815 http://nanbyodata.jp/ontology/NANDO_1200815 MONDO:0019263 http://purl.obolibrary.org/obo/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 Orphanet:79278 https://www.orpha.net/en/disease/detail/79278 NANDO:1200881 http://nanbyodata.jp/ontology/NANDO_1200881 MONDO:0019328 http://purl.obolibrary.org/obo/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 Orphanet:79489 https://www.orpha.net/en/disease/detail/79489 NANDO:1200885 http://nanbyodata.jp/ontology/NANDO_1200885 MONDO:0019403 http://purl.obolibrary.org/obo/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 Orphanet:85 https://www.orpha.net/en/disease/detail/85 NANDO:1200819 http://nanbyodata.jp/ontology/NANDO_1200819 MONDO:0019799 http://purl.obolibrary.org/obo/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 Orphanet:95159 https://www.orpha.net/en/disease/detail/95159 NANDO:1200861 http://nanbyodata.jp/ontology/NANDO_1200861 MONDO:0020088 http://purl.obolibrary.org/obo/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 Orphanet:98306 https://www.orpha.net/en/disease/detail/98306 NANDO:1200886 http://nanbyodata.jp/ontology/NANDO_1200886 MONDO:0020337 http://purl.obolibrary.org/obo/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 Orphanet:98869 https://www.orpha.net/en/disease/detail/98869 NANDO:1200919 http://nanbyodata.jp/ontology/NANDO_1200919 MONDO:0007318 http://purl.obolibrary.org/obo/MONDO_0007318 http://www.w3.org/2004/02/skos/core#closeMatch アラジール症候群 Alagille syndrome Orphanet:52 https://www.orpha.net/en/disease/detail/52 NANDO:1200910 http://nanbyodata.jp/ontology/NANDO_1200910 MONDO:0009774 http://purl.obolibrary.org/obo/MONDO_0009774 http://www.w3.org/2004/02/skos/core#closeMatch 総排泄腔外反症 cloacal exstrophy Orphanet:93929 https://www.orpha.net/en/disease/detail/93929 NANDO:1200962 http://nanbyodata.jp/ontology/NANDO_1200962 MONDO:0011514 http://purl.obolibrary.org/obo/MONDO_0011514 http://www.w3.org/2004/02/skos/core#closeMatch 三尖弁閉鎖症 tricuspid atresia Orphanet:1209 https://www.orpha.net/en/disease/detail/1209 NANDO:1200924 http://nanbyodata.jp/ontology/NANDO_1200924 MONDO:0017287 http://purl.obolibrary.org/obo/MONDO_0017287 http://www.w3.org/2004/02/skos/core#closeMatch IgG4関連疾患 IgG4-related disease Orphanet:596448 https://www.orpha.net/en/disease/detail/596448 NANDO:1200924 http://nanbyodata.jp/ontology/NANDO_1200924 MONDO:0017287 http://purl.obolibrary.org/obo/MONDO_0017287 http://www.w3.org/2004/02/skos/core#closeMatch IgG4関連疾患 IgG4-related disease Orphanet:284264 https://www.orpha.net/en/disease/detail/284264 NANDO:1200962 http://nanbyodata.jp/ontology/NANDO_1200962 MONDO:0019813 http://purl.obolibrary.org/obo/MONDO_0019813 http://www.w3.org/2004/02/skos/core#closeMatch 先天性三尖弁狭窄症 congenital tricuspid stenosis Orphanet:95459 https://www.orpha.net/en/disease/detail/95459 NANDO:1200911 http://nanbyodata.jp/ontology/NANDO_1200911 MONDO:0005711 http://purl.obolibrary.org/obo/MONDO_0005711 http://www.w3.org/2004/02/skos/core#exactMatch 先天性横隔膜ヘルニア congenital diaphragmatic hernia Orphanet:2140 https://www.orpha.net/en/disease/detail/2140 NANDO:1200918 http://nanbyodata.jp/ontology/NANDO_1200918 MONDO:0007318 http://purl.obolibrary.org/obo/MONDO_0007318 http://www.w3.org/2004/02/skos/core#exactMatch アラジール症候群 Alagille syndrome Orphanet:52 https://www.orpha.net/en/disease/detail/52 NANDO:1200921 http://nanbyodata.jp/ontology/NANDO_1200921 MONDO:0008185 http://purl.obolibrary.org/obo/MONDO_0008185 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性慢性膵炎 hereditary chronic pancreatitis Orphanet:676 https://www.orpha.net/en/disease/detail/676 NANDO:1200901 http://nanbyodata.jp/ontology/NANDO_1200901 MONDO:0008283 http://purl.obolibrary.org/obo/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 Orphanet:2930 https://www.orpha.net/en/disease/detail/2930 NANDO:1200913 http://nanbyodata.jp/ontology/NANDO_1200913 MONDO:0008867 http://purl.obolibrary.org/obo/MONDO_0008867 http://www.w3.org/2004/02/skos/core#exactMatch 胆道閉鎖症 biliary atresia Orphanet:30391 https://www.orpha.net/en/disease/detail/30391 NANDO:1200922 http://nanbyodata.jp/ontology/NANDO_1200922 MONDO:0009061 http://purl.obolibrary.org/obo/MONDO_0009061 http://www.w3.org/2004/02/skos/core#exactMatch 嚢胞性線維症 cystic fibrosis Orphanet:586 https://www.orpha.net/en/disease/detail/586 NANDO:1200909 http://nanbyodata.jp/ontology/NANDO_1200909 MONDO:0009774 http://purl.obolibrary.org/obo/MONDO_0009774 http://www.w3.org/2004/02/skos/core#exactMatch 総排泄腔外反症 cloacal exstrophy Orphanet:93929 https://www.orpha.net/en/disease/detail/93929 NANDO:1200925 http://nanbyodata.jp/ontology/NANDO_1200925 MONDO:0015175 http://purl.obolibrary.org/obo/MONDO_0015175 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性膵炎 autoimmune pancreatitis Orphanet:103919 https://www.orpha.net/en/disease/detail/103919 NANDO:1200890 http://nanbyodata.jp/ontology/NANDO_1200890 MONDO:0015253 http://purl.obolibrary.org/obo/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 Orphanet:124 https://www.orpha.net/en/disease/detail/124 NANDO:1200923 http://nanbyodata.jp/ontology/NANDO_1200923 MONDO:0017287 http://purl.obolibrary.org/obo/MONDO_0017287 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連疾患 IgG4-related disease Orphanet:284264 https://www.orpha.net/en/disease/detail/284264 NANDO:1200923 http://nanbyodata.jp/ontology/NANDO_1200923 MONDO:0017287 http://purl.obolibrary.org/obo/MONDO_0017287 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連疾患 IgG4-related disease Orphanet:596448 https://www.orpha.net/en/disease/detail/596448 NANDO:1200903 http://nanbyodata.jp/ontology/NANDO_1200903 MONDO:0018309 http://purl.obolibrary.org/obo/MONDO_0018309 http://www.w3.org/2004/02/skos/core#exactMatch ヒルシュスプルング病 Hirschsprung disease Orphanet:388 https://www.orpha.net/en/disease/detail/388 NANDO:1200928 http://nanbyodata.jp/ontology/NANDO_1200928 MONDO:0018645 http://purl.obolibrary.org/obo/MONDO_0018645 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連硬化性胆管炎 IgG4-related sclerosing cholangitis Orphanet:447764 https://www.orpha.net/en/disease/detail/447764 NANDO:1200930 http://nanbyodata.jp/ontology/NANDO_1200930 MONDO:0018671 http://purl.obolibrary.org/obo/MONDO_0018671 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連腎臓病 IgG4-related kidney disease Orphanet:449395 https://www.orpha.net/en/disease/detail/449395 NANDO:1200929 http://nanbyodata.jp/ontology/NANDO_1200929 MONDO:0019191 http://purl.obolibrary.org/obo/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 Orphanet:79078 https://www.orpha.net/en/disease/detail/79078 NANDO:1200891 http://nanbyodata.jp/ontology/NANDO_1200891 MONDO:0019391 http://purl.obolibrary.org/obo/MONDO_0019391 http://www.w3.org/2004/02/skos/core#exactMatch ファンコニ貧血 Fanconi anemia Orphanet:84 https://www.orpha.net/en/disease/detail/84 NANDO:1200892 http://nanbyodata.jp/ontology/NANDO_1200892 MONDO:0020099 http://purl.obolibrary.org/obo/MONDO_0020099 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性鉄芽球性貧血 inherited sideroblastic anemia Orphanet:98362 https://www.orpha.net/en/disease/detail/98362 NANDO:1200889 http://nanbyodata.jp/ontology/NANDO_1200889 MONDO:0020338 http://purl.obolibrary.org/obo/MONDO_0020338 http://www.w3.org/2004/02/skos/core#exactMatch 後天性赤芽球癆 adult pure red cell aplasia Orphanet:98872 https://www.orpha.net/en/disease/detail/98872 NANDO:1200899 http://nanbyodata.jp/ontology/NANDO_1200899 MONDO:0020460 http://purl.obolibrary.org/obo/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 Orphanet:99147 https://www.orpha.net/en/disease/detail/99147 NANDO:1200897 http://nanbyodata.jp/ontology/NANDO_1200897 MONDO:0021133 http://purl.obolibrary.org/obo/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 Orphanet:599513 https://www.orpha.net/en/disease/detail/599513 NANDO:1200943 http://nanbyodata.jp/ontology/NANDO_1200943 MONDO:0016484 http://purl.obolibrary.org/obo/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 Orphanet:231178 https://www.orpha.net/en/disease/detail/231178 NANDO:1200936 http://nanbyodata.jp/ontology/NANDO_1200936 MONDO:0000455 http://purl.obolibrary.org/obo/MONDO_0000455 http://www.w3.org/2004/02/skos/core#exactMatch 錐体ジストロフィー cone dystrophy Orphanet:1871 https://www.orpha.net/en/disease/detail/1871 NANDO:1200967 http://nanbyodata.jp/ontology/NANDO_1200967 MONDO:0008061 http://purl.obolibrary.org/obo/MONDO_0008061 http://www.w3.org/2004/02/skos/core#exactMatch ネイル・パテラ症候群 nail-patella syndrome Orphanet:2614 https://www.orpha.net/en/disease/detail/2614 NANDO:1200939 http://nanbyodata.jp/ontology/NANDO_1200939 MONDO:0008982 http://purl.obolibrary.org/obo/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 Orphanet:75377 https://www.orpha.net/en/disease/detail/75377 NANDO:1200955 http://nanbyodata.jp/ontology/NANDO_1200955 MONDO:0009697 http://purl.obolibrary.org/obo/MONDO_0009697 http://www.w3.org/2004/02/skos/core#exactMatch ラフォラ病 Lafora disease Orphanet:501 https://www.orpha.net/en/disease/detail/501 NANDO:1200954 http://nanbyodata.jp/ontology/NANDO_1200954 MONDO:0009698 http://purl.obolibrary.org/obo/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 Orphanet:308 https://www.orpha.net/en/disease/detail/308 NANDO:1200970 http://nanbyodata.jp/ontology/NANDO_1200970 MONDO:0009705 http://purl.obolibrary.org/obo/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 Orphanet:156 https://www.orpha.net/en/disease/detail/156 NANDO:1200961 http://nanbyodata.jp/ontology/NANDO_1200961 MONDO:0010035 http://purl.obolibrary.org/obo/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 Orphanet:818 https://www.orpha.net/en/disease/detail/818 NANDO:1200948 http://nanbyodata.jp/ontology/NANDO_1200948 MONDO:0010079 http://purl.obolibrary.org/obo/MONDO_0010079 http://www.w3.org/2004/02/skos/core#exactMatch カドミウム中毒 Canavan disease Orphanet:141 https://www.orpha.net/en/disease/detail/141 NANDO:1200942 http://nanbyodata.jp/ontology/NANDO_1200942 MONDO:0010168 http://purl.obolibrary.org/obo/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 Orphanet:231169 https://www.orpha.net/en/disease/detail/231169 NANDO:1200938 http://nanbyodata.jp/ontology/NANDO_1200938 MONDO:0010725 http://purl.obolibrary.org/obo/MONDO_0010725 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性網膜分離症 X-linked retinoschisis Orphanet:792 https://www.orpha.net/en/disease/detail/792 NANDO:1200940 http://nanbyodata.jp/ontology/NANDO_1200940 MONDO:0010788 http://purl.obolibrary.org/obo/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 Orphanet:104 https://www.orpha.net/en/disease/detail/104 NANDO:1200950 http://nanbyodata.jp/ontology/NANDO_1200950 MONDO:0011391 http://purl.obolibrary.org/obo/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 Orphanet:2478 https://www.orpha.net/en/disease/detail/2478 NANDO:1200959 http://nanbyodata.jp/ontology/NANDO_1200959 MONDO:0012455 http://purl.obolibrary.org/obo/MONDO_0012455 http://www.w3.org/2004/02/skos/core#exactMatch 9q34欠失症候群 Kleefstra syndrome Orphanet:261494 https://www.orpha.net/en/disease/detail/261494 NANDO:1200934 http://nanbyodata.jp/ontology/NANDO_1200934 MONDO:0013316 http://purl.obolibrary.org/obo/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 Orphanet:247834 https://www.orpha.net/en/disease/detail/247834 NANDO:1200971 http://nanbyodata.jp/ontology/NANDO_1200971 MONDO:0015515 http://purl.obolibrary.org/obo/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 Orphanet:157 https://www.orpha.net/en/disease/detail/157 NANDO:1200937 http://nanbyodata.jp/ontology/NANDO_1200937 MONDO:0015993 http://purl.obolibrary.org/obo/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 Orphanet:1872 https://www.orpha.net/en/disease/detail/1872 NANDO:1200960 http://nanbyodata.jp/ontology/NANDO_1200960 MONDO:0016033 http://purl.obolibrary.org/obo/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 Orphanet:199 https://www.orpha.net/en/disease/detail/199 NANDO:1200944 http://nanbyodata.jp/ontology/NANDO_1200944 MONDO:0016485 http://purl.obolibrary.org/obo/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 Orphanet:231183 https://www.orpha.net/en/disease/detail/231183 NANDO:1200958 http://nanbyodata.jp/ontology/NANDO_1200958 MONDO:0016952 http://purl.obolibrary.org/obo/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 Orphanet:262833 https://www.orpha.net/en/disease/detail/262833 NANDO:1200969 http://nanbyodata.jp/ontology/NANDO_1200969 MONDO:0017716 http://purl.obolibrary.org/obo/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 Orphanet:309130 https://www.orpha.net/en/disease/detail/309130 NANDO:1200964 http://nanbyodata.jp/ontology/NANDO_1200964 MONDO:0017864 http://purl.obolibrary.org/obo/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 Orphanet:3188 https://www.orpha.net/en/disease/detail/3188 NANDO:1200933 http://nanbyodata.jp/ontology/NANDO_1200933 MONDO:0019353 http://purl.obolibrary.org/obo/MONDO_0019353 http://www.w3.org/2004/02/skos/core#exactMatch シュタルガルト病 Stargardt disease Orphanet:827 https://www.orpha.net/en/disease/detail/827 NANDO:1200956 http://nanbyodata.jp/ontology/NANDO_1200956 MONDO:0019448 http://purl.obolibrary.org/obo/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 Orphanet:86814 https://www.orpha.net/en/disease/detail/86814 NANDO:1200941 http://nanbyodata.jp/ontology/NANDO_1200941 MONDO:0019501 http://purl.obolibrary.org/obo/MONDO_0019501 http://www.w3.org/2004/02/skos/core#exactMatch アッシャー症候群 Usher syndrome Orphanet:886 https://www.orpha.net/en/disease/detail/886 NANDO:1200953 http://nanbyodata.jp/ontology/NANDO_1200953 MONDO:0020074 http://purl.obolibrary.org/obo/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 Orphanet:98261 https://www.orpha.net/en/disease/detail/98261 NANDO:1200963 http://nanbyodata.jp/ontology/NANDO_1200963 MONDO:0020398 http://purl.obolibrary.org/obo/MONDO_0020398 http://www.w3.org/2004/02/skos/core#exactMatch 先天性僧帽弁狭窄症 congenital mitral stenosis Orphanet:99057 https://www.orpha.net/en/disease/detail/99057 NANDO:1201032 http://nanbyodata.jp/ontology/NANDO_1201032 MONDO:0000456 http://purl.obolibrary.org/obo/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 Orphanet:79172 https://www.orpha.net/en/disease/detail/79172 NANDO:1201018 http://nanbyodata.jp/ontology/NANDO_1201018 MONDO:0002413 http://purl.obolibrary.org/obo/MONDO_0002413 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病I型 glycogen storage disease I Orphanet:364 https://www.orpha.net/en/disease/detail/364 NANDO:1201063 http://nanbyodata.jp/ontology/NANDO_1201063 MONDO:0007097 http://purl.obolibrary.org/obo/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 Orphanet:85448 https://www.orpha.net/en/disease/detail/85448 NANDO:1201060 http://nanbyodata.jp/ontology/NANDO_1201060 MONDO:0007100 http://purl.obolibrary.org/obo/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 Orphanet:271861 https://www.orpha.net/en/disease/detail/271861 NANDO:1201007 http://nanbyodata.jp/ontology/NANDO_1201007 MONDO:0008310 http://purl.obolibrary.org/obo/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 Orphanet:740 https://www.orpha.net/en/disease/detail/740 NANDO:1200987 http://nanbyodata.jp/ontology/NANDO_1200987 MONDO:0008760 http://purl.obolibrary.org/obo/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 Orphanet:134 https://www.orpha.net/en/disease/detail/134 NANDO:1201006 http://nanbyodata.jp/ontology/NANDO_1201006 MONDO:0008777 http://purl.obolibrary.org/obo/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 Orphanet:98957 https://www.orpha.net/en/disease/detail/98957 NANDO:1200972 http://nanbyodata.jp/ontology/NANDO_1200972 MONDO:0008918 http://purl.obolibrary.org/obo/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 Orphanet:159 https://www.orpha.net/en/disease/detail/159 NANDO:1200973 http://nanbyodata.jp/ontology/NANDO_1200973 MONDO:0008919 http://purl.obolibrary.org/obo/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 Orphanet:158 https://www.orpha.net/en/disease/detail/158 NANDO:1201059 http://nanbyodata.jp/ontology/NANDO_1201059 MONDO:0009039 http://purl.obolibrary.org/obo/MONDO_0009039 http://www.w3.org/2004/02/skos/core#exactMatch バラー・ゲロルト症候群 Baller-Gerold syndrome Orphanet:1225 https://www.orpha.net/en/disease/detail/1225 NANDO:1201021 http://nanbyodata.jp/ontology/NANDO_1201021 MONDO:0009061 http://purl.obolibrary.org/obo/MONDO_0009061 http://www.w3.org/2004/02/skos/core#closeMatch 嚢胞性線維症 cystic fibrosis Orphanet:586 https://www.orpha.net/en/disease/detail/586 NANDO:1201019 http://nanbyodata.jp/ontology/NANDO_1201019 MONDO:0009291 http://purl.obolibrary.org/obo/MONDO_0009291 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病III glycogen storage disease III Orphanet:366 https://www.orpha.net/en/disease/detail/366 NANDO:1201039 http://nanbyodata.jp/ontology/NANDO_1201039 MONDO:0009352 http://purl.obolibrary.org/obo/MONDO_0009352 http://www.w3.org/2004/02/skos/core#exactMatch 古典型ホモシスチン尿症 classic homocystinuria Orphanet:394 https://www.orpha.net/en/disease/detail/394 NANDO:1201041 http://nanbyodata.jp/ontology/NANDO_1201041 MONDO:0009353 http://purl.obolibrary.org/obo/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 Orphanet:395 https://www.orpha.net/en/disease/detail/395 NANDO:1200990 http://nanbyodata.jp/ontology/NANDO_1200990 MONDO:0009610 http://purl.obolibrary.org/obo/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 Orphanet:67046 https://www.orpha.net/en/disease/detail/67046 NANDO:1201036 http://nanbyodata.jp/ontology/NANDO_1201036 MONDO:0009728 http://purl.obolibrary.org/obo/MONDO_0009728 http://www.w3.org/2004/02/skos/core#closeMatch ネフロン癆1 nephronophthisis 1 Orphanet:93592 https://www.orpha.net/en/disease/detail/93592 NANDO:1200992 http://nanbyodata.jp/ontology/NANDO_1200992 MONDO:0009787 http://purl.obolibrary.org/obo/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 Orphanet:67047 https://www.orpha.net/en/disease/detail/67047 NANDO:1201058 http://nanbyodata.jp/ontology/NANDO_1201058 MONDO:0009955 http://purl.obolibrary.org/obo/MONDO_0009955 http://www.w3.org/2004/02/skos/core#exactMatch ラパデリノ症候群 rapadilino syndrome Orphanet:3021 https://www.orpha.net/en/disease/detail/3021 NANDO:1201040 http://nanbyodata.jp/ontology/NANDO_1201040 MONDO:0010184 http://purl.obolibrary.org/obo/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 Orphanet:79282 https://www.orpha.net/en/disease/detail/79282 NANDO:1201035 http://nanbyodata.jp/ontology/NANDO_1201035 MONDO:0010305 http://purl.obolibrary.org/obo/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 Orphanet:52503 https://www.orpha.net/en/disease/detail/52503 NANDO:1200991 http://nanbyodata.jp/ontology/NANDO_1200991 MONDO:0010543 http://purl.obolibrary.org/obo/MONDO_0010543 http://www.w3.org/2004/02/skos/core#exactMatch バース症候群 Barth syndrome Orphanet:111 https://www.orpha.net/en/disease/detail/111 NANDO:1201044 http://nanbyodata.jp/ontology/NANDO_1201044 MONDO:0011156 http://purl.obolibrary.org/obo/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 Orphanet:79304 https://www.orpha.net/en/disease/detail/79304 NANDO:1201045 http://nanbyodata.jp/ontology/NANDO_1201045 MONDO:0011214 http://purl.obolibrary.org/obo/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 Orphanet:79305 https://www.orpha.net/en/disease/detail/79305 NANDO:1201003 http://nanbyodata.jp/ontology/NANDO_1201003 MONDO:0011340 http://purl.obolibrary.org/obo/MONDO_0011340 http://www.w3.org/2004/02/skos/core#exactMatch 先天性気管狭窄症 congenital tracheal stenosis Orphanet:141127 https://www.orpha.net/en/disease/detail/141127 NANDO:1200979 http://nanbyodata.jp/ontology/NANDO_1200979 MONDO:0011601 http://purl.obolibrary.org/obo/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 Orphanet:247598 https://www.orpha.net/en/disease/detail/247598 NANDO:1200984 http://nanbyodata.jp/ontology/NANDO_1200984 MONDO:0011612 http://purl.obolibrary.org/obo/MONDO_0011612 http://www.w3.org/2004/02/skos/core#exactMatch グリシン脳症 glycine encephalopathy Orphanet:407 https://www.orpha.net/en/disease/detail/407 NANDO:1200988 http://nanbyodata.jp/ontology/NANDO_1200988 MONDO:0012084 http://purl.obolibrary.org/obo/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 Orphanet:35708 https://www.orpha.net/en/disease/detail/35708 NANDO:1201009 http://nanbyodata.jp/ontology/NANDO_1201009 MONDO:0012105 http://purl.obolibrary.org/obo/MONDO_0012105 http://www.w3.org/2004/02/skos/core#closeMatch 多発血管炎性肉芽腫症 granulomatosis with polyangiitis Orphanet:900 https://www.orpha.net/en/disease/detail/900 NANDO:1200974 http://nanbyodata.jp/ontology/NANDO_1200974 MONDO:0012172 http://purl.obolibrary.org/obo/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 Orphanet:746 https://www.orpha.net/en/disease/detail/746 NANDO:1200983 http://nanbyodata.jp/ontology/NANDO_1200983 MONDO:0012465 http://purl.obolibrary.org/obo/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 Orphanet:83639 https://www.orpha.net/en/disease/detail/83639 NANDO:1200982 http://nanbyodata.jp/ontology/NANDO_1200982 MONDO:0012994 http://purl.obolibrary.org/obo/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 Orphanet:70594 https://www.orpha.net/en/disease/detail/70594 NANDO:1201033 http://nanbyodata.jp/ontology/NANDO_1201033 MONDO:0012996 http://purl.obolibrary.org/obo/MONDO_0012996 http://www.w3.org/2004/02/skos/core#exactMatch AGAT欠損症 AGAT deficiency Orphanet:35704 https://www.orpha.net/en/disease/detail/35704 NANDO:1201034 http://nanbyodata.jp/ontology/NANDO_1201034 MONDO:0012999 http://purl.obolibrary.org/obo/MONDO_0012999 http://www.w3.org/2004/02/skos/core#exactMatch GAMT欠損症 guanidinoacetate methyltransferase deficiency Orphanet:382 https://www.orpha.net/en/disease/detail/382 NANDO:1200995 http://nanbyodata.jp/ontology/NANDO_1200995 MONDO:0014306 http://purl.obolibrary.org/obo/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 Orphanet:404553 https://www.orpha.net/en/disease/detail/404553 NANDO:1201046 http://nanbyodata.jp/ontology/NANDO_1201046 MONDO:0014381 http://purl.obolibrary.org/obo/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 Orphanet:480483 https://www.orpha.net/en/disease/detail/480483 NANDO:1200994 http://nanbyodata.jp/ontology/NANDO_1200994 MONDO:0014472 http://purl.obolibrary.org/obo/MONDO_0014472 http://www.w3.org/2004/02/skos/core#exactMatch NLRC4異常症 periodic fever-infantile enterocolitis-autoinflammatory syndrome Orphanet:436166 https://www.orpha.net/en/disease/detail/436166 NANDO:1201047 http://nanbyodata.jp/ontology/NANDO_1201047 MONDO:0014884 http://purl.obolibrary.org/obo/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 Orphanet:480476 https://www.orpha.net/en/disease/detail/480476 NANDO:1201051 http://nanbyodata.jp/ontology/NANDO_1201051 MONDO:0015375 http://purl.obolibrary.org/obo/MONDO_0015375 http://www.w3.org/2004/02/skos/core#exactMatch 口-顔-指症候群 orofaciodigital syndrome Orphanet:140997 https://www.orpha.net/en/disease/detail/140997 NANDO:1201004 http://nanbyodata.jp/ontology/NANDO_1201004 MONDO:0015395 http://purl.obolibrary.org/obo/MONDO_0015395 http://www.w3.org/2004/02/skos/core#exactMatch 先天性声門下狭窄症 congenital subglottic stenosis Orphanet:141121 https://www.orpha.net/en/disease/detail/141121 NANDO:1201042 http://nanbyodata.jp/ontology/NANDO_1201042 MONDO:0015762 http://purl.obolibrary.org/obo/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 Orphanet:172 https://www.orpha.net/en/disease/detail/172 NANDO:1201010 http://nanbyodata.jp/ontology/NANDO_1201010 MONDO:0016356 http://purl.obolibrary.org/obo/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 Orphanet:220393 https://www.orpha.net/en/disease/detail/220393 NANDO:1201011 http://nanbyodata.jp/ontology/NANDO_1201011 MONDO:0016358 http://purl.obolibrary.org/obo/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 Orphanet:220402 https://www.orpha.net/en/disease/detail/220402 NANDO:1200978 http://nanbyodata.jp/ontology/NANDO_1200978 MONDO:0016602 http://purl.obolibrary.org/obo/MONDO_0016602 http://www.w3.org/2004/02/skos/core#exactMatch シトリン欠損症 citrin deficiency Orphanet:247582 https://www.orpha.net/en/disease/detail/247582 NANDO:1200980 http://nanbyodata.jp/ontology/NANDO_1200980 MONDO:0016603 http://purl.obolibrary.org/obo/MONDO_0016603 http://www.w3.org/2004/02/skos/core#exactMatch シトルリン血症II型 citrullinemia type II Orphanet:247585 https://www.orpha.net/en/disease/detail/247585 NANDO:1200998 http://nanbyodata.jp/ontology/NANDO_1200998 MONDO:0017198 http://purl.obolibrary.org/obo/MONDO_0017198 http://www.w3.org/2004/02/skos/core#exactMatch 大理石骨病 osteopetrosis Orphanet:2781 https://www.orpha.net/en/disease/detail/2781 NANDO:1200985 http://nanbyodata.jp/ontology/NANDO_1200985 MONDO:0017353 http://purl.obolibrary.org/obo/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 Orphanet:289857 https://www.orpha.net/en/disease/detail/289857 NANDO:1200986 http://nanbyodata.jp/ontology/NANDO_1200986 MONDO:0017354 http://purl.obolibrary.org/obo/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 Orphanet:289860 https://www.orpha.net/en/disease/detail/289860 NANDO:1200989 http://nanbyodata.jp/ontology/NANDO_1200989 MONDO:0017359 http://purl.obolibrary.org/obo/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 Orphanet:289902 https://www.orpha.net/en/disease/detail/289902 NANDO:1201049 http://nanbyodata.jp/ontology/NANDO_1201049 MONDO:0017842 http://purl.obolibrary.org/obo/MONDO_0017842 http://www.w3.org/2004/02/skos/core#exactMatch Senior-Loken症候群 Senior-Loken syndrome Orphanet:3156 https://www.orpha.net/en/disease/detail/3156 NANDO:1200996 http://nanbyodata.jp/ontology/NANDO_1200996 MONDO:0018866 http://purl.obolibrary.org/obo/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 Orphanet:51 https://www.orpha.net/en/disease/detail/51 NANDO:1201036 http://nanbyodata.jp/ontology/NANDO_1201036 MONDO:0019005 http://purl.obolibrary.org/obo/MONDO_0019005 http://www.w3.org/2004/02/skos/core#exactMatch ネフロン癆 nephronophthisis Orphanet:655 https://www.orpha.net/en/disease/detail/655 NANDO:1201000 http://nanbyodata.jp/ontology/NANDO_1201000 MONDO:0019503 http://purl.obolibrary.org/obo/MONDO_0019503 http://www.w3.org/2004/02/skos/core#exactMatch 前眼部形成不全 anterior segment dysgenesis Orphanet:88632 https://www.orpha.net/en/disease/detail/88632 NANDO:1201062 http://nanbyodata.jp/ontology/NANDO_1201062 MONDO:0019731 http://purl.obolibrary.org/obo/MONDO_0019731 http://www.w3.org/2004/02/skos/core#exactMatch AApoAIアミロイドーシス AApoAI amyloidosis Orphanet:93560 https://www.orpha.net/en/disease/detail/93560 NANDO:1201048 http://nanbyodata.jp/ontology/NANDO_1201048 MONDO:0021134 http://purl.obolibrary.org/obo/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 Orphanet:599501 https://www.orpha.net/en/disease/detail/599501 NANDO:1201071 http://nanbyodata.jp/ontology/NANDO_1201071 MONDO:0000087 http://purl.obolibrary.org/obo/MONDO_0000087 http://www.w3.org/2004/02/skos/core#exactMatch 多小脳回 polymicrogyria Orphanet:35981 https://www.orpha.net/en/disease/detail/35981 NANDO:2100004 http://nanbyodata.jp/ontology/NANDO_2100004 MONDO:0005062 http://purl.obolibrary.org/obo/MONDO_0005062 http://www.w3.org/2004/02/skos/core#exactMatch リンパ腫 lymphoma Orphanet:223735 https://www.orpha.net/en/disease/detail/223735 NANDO:1201075 http://nanbyodata.jp/ontology/NANDO_1201075 MONDO:0007078 http://purl.obolibrary.org/obo/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 Orphanet:79443 https://www.orpha.net/en/disease/detail/79443 NANDO:1201102 http://nanbyodata.jp/ontology/NANDO_1201102 MONDO:0007232 http://purl.obolibrary.org/obo/MONDO_0007232 http://www.w3.org/2004/02/skos/core#closeMatch 常染色体顕性短体幹症 autosomal dominant brachyolmia Orphanet:93304 https://www.orpha.net/en/disease/detail/93304 NANDO:1201088 http://nanbyodata.jp/ontology/NANDO_1201088 MONDO:0007526 http://purl.obolibrary.org/obo/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 Orphanet:75496 https://www.orpha.net/en/disease/detail/75496 NANDO:1201091 http://nanbyodata.jp/ontology/NANDO_1201091 MONDO:0007527 http://purl.obolibrary.org/obo/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 Orphanet:75392 https://www.orpha.net/en/disease/detail/75392 NANDO:1201099 http://nanbyodata.jp/ontology/NANDO_1201099 MONDO:0007986 http://purl.obolibrary.org/obo/MONDO_0007986 http://www.w3.org/2004/02/skos/core#exactMatch 変容性骨異形成症 metatropic dysplasia Orphanet:2635 https://www.orpha.net/en/disease/detail/2635 NANDO:1201100 http://nanbyodata.jp/ontology/NANDO_1201100 MONDO:0008473 http://purl.obolibrary.org/obo/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 Orphanet:263482 https://www.orpha.net/en/disease/detail/263482 NANDO:1201101 http://nanbyodata.jp/ontology/NANDO_1201101 MONDO:0008477 http://purl.obolibrary.org/obo/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 Orphanet:93314 https://www.orpha.net/en/disease/detail/93314 NANDO:1201078 http://nanbyodata.jp/ontology/NANDO_1201078 MONDO:0008749 http://purl.obolibrary.org/obo/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 Orphanet:94090 https://www.orpha.net/en/disease/detail/94090 NANDO:1201086 http://nanbyodata.jp/ontology/NANDO_1201086 MONDO:0009159 http://purl.obolibrary.org/obo/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 Orphanet:230851 https://www.orpha.net/en/disease/detail/230851 NANDO:1201065 http://nanbyodata.jp/ontology/NANDO_1201065 MONDO:0009182 http://purl.obolibrary.org/obo/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 Orphanet:79404 https://www.orpha.net/en/disease/detail/79404 NANDO:1201087 http://nanbyodata.jp/ontology/NANDO_1201087 MONDO:0009242 http://purl.obolibrary.org/obo/MONDO_0009242 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱角膜症候群 brittle cornea syndrome Orphanet:90354 https://www.orpha.net/en/disease/detail/90354 NANDO:1201083 http://nanbyodata.jp/ontology/NANDO_1201083 MONDO:0009532 http://purl.obolibrary.org/obo/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 Orphanet:531 https://www.orpha.net/en/disease/detail/531 NANDO:1201073 http://nanbyodata.jp/ontology/NANDO_1201073 MONDO:0010011 http://purl.obolibrary.org/obo/MONDO_0010011 http://www.w3.org/2004/02/skos/core#exactMatch 裂脳症 schizencephaly Orphanet:799 https://www.orpha.net/en/disease/detail/799 NANDO:1201095 http://nanbyodata.jp/ontology/NANDO_1201095 MONDO:0010283 http://purl.obolibrary.org/obo/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 Orphanet:1762 https://www.orpha.net/en/disease/detail/1762 NANDO:1201064 http://nanbyodata.jp/ontology/NANDO_1201064 MONDO:0010787 http://purl.obolibrary.org/obo/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 Orphanet:480 https://www.orpha.net/en/disease/detail/480 NANDO:1201089 http://nanbyodata.jp/ontology/NANDO_1201089 MONDO:0011142 http://purl.obolibrary.org/obo/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 Orphanet:2953 https://www.orpha.net/en/disease/detail/2953 NANDO:1201076 http://nanbyodata.jp/ontology/NANDO_1201076 MONDO:0011301 http://purl.obolibrary.org/obo/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 Orphanet:94089 https://www.orpha.net/en/disease/detail/94089 NANDO:1201103 http://nanbyodata.jp/ontology/NANDO_1201103 MONDO:0011732 http://purl.obolibrary.org/obo/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 Orphanet:85169 https://www.orpha.net/en/disease/detail/85169 NANDO:1201077 http://nanbyodata.jp/ontology/NANDO_1201077 MONDO:0012911 http://purl.obolibrary.org/obo/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 Orphanet:79444 https://www.orpha.net/en/disease/detail/79444 NANDO:1201068 http://nanbyodata.jp/ontology/NANDO_1201068 MONDO:0015146 http://purl.obolibrary.org/obo/MONDO_0015146 http://www.w3.org/2004/02/skos/core#closeMatch 古典型滑脳症 classic lissencephaly Orphanet:102009 https://www.orpha.net/en/disease/detail/102009 NANDO:1201069 http://nanbyodata.jp/ontology/NANDO_1201069 MONDO:0015146 http://purl.obolibrary.org/obo/MONDO_0015146 http://www.w3.org/2004/02/skos/core#closeMatch 古典型滑脳症 classic lissencephaly Orphanet:102009 https://www.orpha.net/en/disease/detail/102009 NANDO:1201097 http://nanbyodata.jp/ontology/NANDO_1201097 MONDO:0016575 http://purl.obolibrary.org/obo/MONDO_0016575 http://www.w3.org/2004/02/skos/core#closeMatch 原発性線毛機能不全症 primary ciliary dyskinesia Orphanet:244 https://www.orpha.net/en/disease/detail/244 NANDO:1201096 http://nanbyodata.jp/ontology/NANDO_1201096 MONDO:0016575 http://purl.obolibrary.org/obo/MONDO_0016575 http://www.w3.org/2004/02/skos/core#exactMatch 原発性線毛機能不全症 primary ciliary dyskinesia Orphanet:244 https://www.orpha.net/en/disease/detail/244 NANDO:1201074 http://nanbyodata.jp/ontology/NANDO_1201074 MONDO:0017410 http://purl.obolibrary.org/obo/MONDO_0017410 http://www.w3.org/2004/02/skos/core#exactMatch 孔脳症 porencephaly Orphanet:2940 https://www.orpha.net/en/disease/detail/2940 NANDO:1201098 http://nanbyodata.jp/ontology/NANDO_1201098 MONDO:0018240 http://purl.obolibrary.org/obo/MONDO_0018240 http://www.w3.org/2004/02/skos/core#closeMatch TRPV4異常症 TRPV4-related bone disorder Orphanet:364820 https://www.orpha.net/en/disease/detail/364820 NANDO:1201072 http://nanbyodata.jp/ontology/NANDO_1201072 MONDO:0018869 http://purl.obolibrary.org/obo/MONDO_0018869 http://www.w3.org/2004/02/skos/core#exactMatch 敷石様皮質異形成 cobblestone lissencephaly Orphanet:51577 https://www.orpha.net/en/disease/detail/51577 NANDO:1201080 http://nanbyodata.jp/ontology/NANDO_1201080 MONDO:0019145 http://purl.obolibrary.org/obo/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 Orphanet:745 https://www.orpha.net/en/disease/detail/745 NANDO:1201079 http://nanbyodata.jp/ontology/NANDO_1201079 MONDO:0020341 http://purl.obolibrary.org/obo/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 Orphanet:98892 https://www.orpha.net/en/disease/detail/98892 NANDO:1201070 http://nanbyodata.jp/ontology/NANDO_1201070 MONDO:0020491 http://purl.obolibrary.org/obo/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 Orphanet:99796 https://www.orpha.net/en/disease/detail/99796 NANDO:1201090 http://nanbyodata.jp/ontology/NANDO_1201090 MONDO:0034022 http://purl.obolibrary.org/obo/MONDO_0034022 http://www.w3.org/2004/02/skos/core#closeMatch ベスレムミオパチー2 Bethlem myopathy 2 Orphanet:536516 https://www.orpha.net/en/disease/detail/536516 NANDO:1201085 http://nanbyodata.jp/ontology/NANDO_1201085 MONDO:0054813 http://purl.obolibrary.org/obo/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 Orphanet:536532 https://www.orpha.net/en/disease/detail/536532 NANDO:2100135 http://nanbyodata.jp/ontology/NANDO_2100135 MONDO:0000088 http://purl.obolibrary.org/obo/MONDO_0000088 http://www.w3.org/2004/02/skos/core#exactMatch 思春期早発症 precocious puberty Orphanet:95708 https://www.orpha.net/en/disease/detail/95708 NANDO:2100140 http://nanbyodata.jp/ontology/NANDO_2100140 MONDO:0002145 http://purl.obolibrary.org/obo/MONDO_0002145 http://www.w3.org/2004/02/skos/core#exactMatch 性分化障害 disorder of sexual differentiation Orphanet:90771 https://www.orpha.net/en/disease/detail/90771 NANDO:2100165 http://nanbyodata.jp/ontology/NANDO_2100165 MONDO:0002561 http://purl.obolibrary.org/obo/MONDO_0002561 http://www.w3.org/2004/02/skos/core#exactMatch ライソゾーム病 lysosomal storage disease Orphanet:68366 https://www.orpha.net/en/disease/detail/68366 NANDO:2100204 http://nanbyodata.jp/ontology/NANDO_2100204 MONDO:0003778 http://purl.obolibrary.org/obo/MONDO_0003778 http://www.w3.org/2004/02/skos/core#closeMatch 先天性免疫異常症 inborn error of immunity Orphanet:101997 https://www.orpha.net/en/disease/detail/101997 NANDO:2100163 http://nanbyodata.jp/ontology/NANDO_2100163 MONDO:0004069 http://purl.obolibrary.org/obo/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 Orphanet:68380 https://www.orpha.net/en/disease/detail/68380 NANDO:2100175 http://nanbyodata.jp/ontology/NANDO_2100175 MONDO:0005570 http://purl.obolibrary.org/obo/MONDO_0005570 http://www.w3.org/2004/02/skos/core#exactMatch 血液障害 hematologic disorder Orphanet:97992 https://www.orpha.net/en/disease/detail/97992 NANDO:2100085 http://nanbyodata.jp/ontology/NANDO_2100085 MONDO:0006664 http://purl.obolibrary.org/obo/MONDO_0006664 http://www.w3.org/2004/02/skos/core#exactMatch 心房中隔欠損 atrial septal defect Orphanet:1478 https://www.orpha.net/en/disease/detail/1478 NANDO:2100203 http://nanbyodata.jp/ontology/NANDO_2100203 MONDO:0015131 http://purl.obolibrary.org/obo/MONDO_0015131 http://www.w3.org/2004/02/skos/core#exactMatch 複合免疫不全症 combined immunodeficiency Orphanet:101972 https://www.orpha.net/en/disease/detail/101972 NANDO:2100221 http://nanbyodata.jp/ontology/NANDO_2100221 MONDO:0015333 http://purl.obolibrary.org/obo/MONDO_0015333 http://www.w3.org/2004/02/skos/core#exactMatch 早老症 progeroid syndrome Orphanet:139033 https://www.orpha.net/en/disease/detail/139033 NANDO:2100132 http://nanbyodata.jp/ontology/NANDO_2100132 MONDO:0015900 http://purl.obolibrary.org/obo/MONDO_0015900 http://www.w3.org/2004/02/skos/core#exactMatch 低アルドステロン症 hypoaldosteronism disease Orphanet:181419 https://www.orpha.net/en/disease/detail/181419 NANDO:2100148 http://nanbyodata.jp/ontology/NANDO_2100148 MONDO:0017169 http://purl.obolibrary.org/obo/MONDO_0017169 http://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍 multiple endocrine neoplasia Orphanet:276161 https://www.orpha.net/en/disease/detail/276161 NANDO:2100125 http://nanbyodata.jp/ontology/NANDO_2100125 MONDO:0017278 http://purl.obolibrary.org/obo/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 Orphanet:282196 https://www.orpha.net/en/disease/detail/282196 NANDO:2100159 http://nanbyodata.jp/ontology/NANDO_2100159 MONDO:0019052 http://purl.obolibrary.org/obo/MONDO_0019052 http://www.w3.org/2004/02/skos/core#exactMatch 先天性代謝異常 inborn errors of metabolism Orphanet:68367 https://www.orpha.net/en/disease/detail/68367 NANDO:2100166 http://nanbyodata.jp/ontology/NANDO_2100166 MONDO:0019053 http://purl.obolibrary.org/obo/MONDO_0019053 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム病 peroxisomal disease Orphanet:68373 https://www.orpha.net/en/disease/detail/68373 NANDO:2100214 http://nanbyodata.jp/ontology/NANDO_2100214 MONDO:0019056 http://purl.obolibrary.org/obo/MONDO_0019056 http://www.w3.org/2004/02/skos/core#exactMatch 神経・筋疾患 neuromuscular disease Orphanet:68381 https://www.orpha.net/en/disease/detail/68381 NANDO:2100164 http://nanbyodata.jp/ontology/NANDO_2100164 MONDO:0019214 http://purl.obolibrary.org/obo/MONDO_0019214 http://www.w3.org/2004/02/skos/core#exactMatch 糖質代謝異常症 inborn carbohydrate metabolic disorder Orphanet:79161 https://www.orpha.net/en/disease/detail/79161 NANDO:2100156 http://nanbyodata.jp/ontology/NANDO_2100156 MONDO:0019751 http://purl.obolibrary.org/obo/MONDO_0019751 http://www.w3.org/2004/02/skos/core#exactMatch 自己炎症性疾患 autoinflammatory syndrome Orphanet:93665 https://www.orpha.net/en/disease/detail/93665 NANDO:2100181 http://nanbyodata.jp/ontology/NANDO_2100181 MONDO:0020108 http://purl.obolibrary.org/obo/MONDO_0020108 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性溶血性貧血 autoimmune hemolytic anemia Orphanet:98375 https://www.orpha.net/en/disease/detail/98375 NANDO:2200024 http://nanbyodata.jp/ontology/NANDO_2200024 MONDO:0004952 http://purl.obolibrary.org/obo/MONDO_0004952 http://www.w3.org/2004/02/skos/core#exactMatch ホジキンリンパ腫 Hodgkins lymphoma Orphanet:98293 https://www.orpha.net/en/disease/detail/98293 NANDO:2200029 http://nanbyodata.jp/ontology/NANDO_2200029 MONDO:0004977 http://purl.obolibrary.org/obo/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 Orphanet:86886 https://www.orpha.net/en/disease/detail/86886 NANDO:2200004 http://nanbyodata.jp/ontology/NANDO_2200004 MONDO:0005223 http://purl.obolibrary.org/obo/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 Orphanet:98832 https://www.orpha.net/en/disease/detail/98832 NANDO:2200005 http://nanbyodata.jp/ontology/NANDO_2200005 MONDO:0005224 http://purl.obolibrary.org/obo/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 Orphanet:98833 https://www.orpha.net/en/disease/detail/98833 NANDO:2200034 http://nanbyodata.jp/ontology/NANDO_2200034 MONDO:0005764 http://purl.obolibrary.org/obo/MONDO_0005764 http://www.w3.org/2004/02/skos/core#exactMatch 濾胞樹状細胞肉腫 follicular dendritic cell sarcoma Orphanet:86902 https://www.orpha.net/en/disease/detail/86902 NANDO:2200008 http://nanbyodata.jp/ontology/NANDO_2200008 MONDO:0007896 http://purl.obolibrary.org/obo/MONDO_0007896 http://www.w3.org/2004/02/skos/core#closeMatch 急性単球性白血病 acute monocytic leukemia Orphanet:514 https://www.orpha.net/en/disease/detail/514 NANDO:2200009 http://nanbyodata.jp/ontology/NANDO_2200009 MONDO:0007896 http://purl.obolibrary.org/obo/MONDO_0007896 http://www.w3.org/2004/02/skos/core#exactMatch 急性単球性白血病 acute monocytic leukemia Orphanet:514 https://www.orpha.net/en/disease/detail/514 NANDO:2200014 http://nanbyodata.jp/ontology/NANDO_2200014 MONDO:0011908 http://purl.obolibrary.org/obo/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 Orphanet:86834 https://www.orpha.net/en/disease/detail/86834 NANDO:2200015 http://nanbyodata.jp/ontology/NANDO_2200015 MONDO:0011908 http://purl.obolibrary.org/obo/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 Orphanet:86834 https://www.orpha.net/en/disease/detail/86834 NANDO:2200013 http://nanbyodata.jp/ontology/NANDO_2200013 MONDO:0011996 http://purl.obolibrary.org/obo/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 Orphanet:521 https://www.orpha.net/en/disease/detail/521 NANDO:2200007 http://nanbyodata.jp/ontology/NANDO_2200007 MONDO:0012883 http://purl.obolibrary.org/obo/MONDO_0012883 http://www.w3.org/2004/02/skos/core#exactMatch 急性前骨髄球性白血病 acute promyelocytic leukemia Orphanet:520 https://www.orpha.net/en/disease/detail/520 NANDO:2100227 http://nanbyodata.jp/ontology/NANDO_2100227 MONDO:0015469 http://purl.obolibrary.org/obo/MONDO_0015469 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋骨癒合症 craniosynostosis Orphanet:1531 https://www.orpha.net/en/disease/detail/1531 NANDO:2200032 http://nanbyodata.jp/ontology/NANDO_2200032 MONDO:0015540 http://purl.obolibrary.org/obo/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 Orphanet:158032 https://www.orpha.net/en/disease/detail/158032 NANDO:2200020 http://nanbyodata.jp/ontology/NANDO_2200020 MONDO:0015759 http://purl.obolibrary.org/obo/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 Orphanet:171915 https://www.orpha.net/en/disease/detail/171915 NANDO:2100283 http://nanbyodata.jp/ontology/NANDO_2100283 MONDO:0015947 http://purl.obolibrary.org/obo/MONDO_0015947 http://www.w3.org/2004/02/skos/core#exactMatch 先天性魚鱗癬 inherited ichthyosis Orphanet:183435 https://www.orpha.net/en/disease/detail/183435 NANDO:2200010 http://nanbyodata.jp/ontology/NANDO_2200010 MONDO:0017858 http://purl.obolibrary.org/obo/MONDO_0017858 http://www.w3.org/2004/02/skos/core#exactMatch 急性赤白血病 acute erythroid leukemia Orphanet:318 https://www.orpha.net/en/disease/detail/318 NANDO:2100241 http://nanbyodata.jp/ontology/NANDO_2100241 MONDO:0018307 http://purl.obolibrary.org/obo/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 Orphanet:385 https://www.orpha.net/en/disease/detail/385 NANDO:2200031 http://nanbyodata.jp/ontology/NANDO_2200031 MONDO:0018310 http://purl.obolibrary.org/obo/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 Orphanet:389 https://www.orpha.net/en/disease/detail/389 NANDO:2200011 http://nanbyodata.jp/ontology/NANDO_2200011 MONDO:0018872 http://purl.obolibrary.org/obo/MONDO_0018872 http://www.w3.org/2004/02/skos/core#exactMatch 急性巨核芽球性白血病 acute megakaryoblastic leukemia Orphanet:518 https://www.orpha.net/en/disease/detail/518 NANDO:2200019 http://nanbyodata.jp/ontology/NANDO_2200019 MONDO:0018881 http://purl.obolibrary.org/obo/MONDO_0018881 http://www.w3.org/2004/02/skos/core#exactMatch 骨髄異形成症候群 myelodysplastic syndrome Orphanet:52688 https://www.orpha.net/en/disease/detail/52688 NANDO:2100279 http://nanbyodata.jp/ontology/NANDO_2100279 MONDO:0019040 http://purl.obolibrary.org/obo/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 Orphanet:68335 https://www.orpha.net/en/disease/detail/68335 NANDO:2200017 http://nanbyodata.jp/ontology/NANDO_2200017 MONDO:0019460 http://purl.obolibrary.org/obo/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 Orphanet:86851 https://www.orpha.net/en/disease/detail/86851 NANDO:2200018 http://nanbyodata.jp/ontology/NANDO_2200018 MONDO:0019460 http://purl.obolibrary.org/obo/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 Orphanet:86851 https://www.orpha.net/en/disease/detail/86851 NANDO:2200012 http://nanbyodata.jp/ontology/NANDO_2200012 MONDO:0019470 http://purl.obolibrary.org/obo/MONDO_0019470 http://www.w3.org/2004/02/skos/core#exactMatch NK細胞白血病 aggressive NK-cell leukemia Orphanet:86873 https://www.orpha.net/en/disease/detail/86873 NANDO:2200027 http://nanbyodata.jp/ontology/NANDO_2200027 MONDO:0019472 http://purl.obolibrary.org/obo/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 Orphanet:86879 https://www.orpha.net/en/disease/detail/86879 NANDO:2200030 http://nanbyodata.jp/ontology/NANDO_2200030 MONDO:0019475 http://purl.obolibrary.org/obo/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 Orphanet:86884 https://www.orpha.net/en/disease/detail/86884 NANDO:2100234 http://nanbyodata.jp/ontology/NANDO_2100234 MONDO:0019952 http://purl.obolibrary.org/obo/MONDO_0019952 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオパチー congenital myopathy Orphanet:97245 https://www.orpha.net/en/disease/detail/97245 NANDO:2100237 http://nanbyodata.jp/ontology/NANDO_2100237 MONDO:0020074 http://purl.obolibrary.org/obo/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 Orphanet:98261 https://www.orpha.net/en/disease/detail/98261 NANDO:2100233 http://nanbyodata.jp/ontology/NANDO_2100233 MONDO:0020121 http://purl.obolibrary.org/obo/MONDO_0020121 http://www.w3.org/2004/02/skos/core#exactMatch 筋ジストロフィー muscular dystrophy Orphanet:98473 https://www.orpha.net/en/disease/detail/98473 NANDO:2200014 http://nanbyodata.jp/ontology/NANDO_2200014 MONDO:0020311 http://purl.obolibrary.org/obo/MONDO_0020311 http://www.w3.org/2004/02/skos/core#exactMatch 慢性骨髄単球性白血病 chronic myelomonocytic leukemia Orphanet:98823 https://www.orpha.net/en/disease/detail/98823 NANDO:2200006 http://nanbyodata.jp/ontology/NANDO_2200006 MONDO:0020320 http://purl.obolibrary.org/obo/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 Orphanet:98834 https://www.orpha.net/en/disease/detail/98834 NANDO:2200017 http://nanbyodata.jp/ontology/NANDO_2200017 MONDO:0020321 http://purl.obolibrary.org/obo/MONDO_0020321 http://www.w3.org/2004/02/skos/core#exactMatch 急性未分化型白血病 acute undifferentiated leukemia Orphanet:98835 https://www.orpha.net/en/disease/detail/98835 NANDO:2200021 http://nanbyodata.jp/ontology/NANDO_2200021 MONDO:0020325 http://purl.obolibrary.org/obo/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 Orphanet:98841 https://www.orpha.net/en/disease/detail/98841 NANDO:2200022 http://nanbyodata.jp/ontology/NANDO_2200022 MONDO:0020511 http://purl.obolibrary.org/obo/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 Orphanet:99860 https://www.orpha.net/en/disease/detail/99860 NANDO:2200001 http://nanbyodata.jp/ontology/NANDO_2200001 MONDO:0020511 http://purl.obolibrary.org/obo/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 Orphanet:99860 https://www.orpha.net/en/disease/detail/99860 NANDO:2200018 http://nanbyodata.jp/ontology/NANDO_2200018 MONDO:0020743 http://purl.obolibrary.org/obo/MONDO_0020743 http://www.w3.org/2004/02/skos/core#exactMatch 混合型急性白血病 mixed phenotype acute leukemia Orphanet:530995 https://www.orpha.net/en/disease/detail/530995 NANDO:2200049 http://nanbyodata.jp/ontology/NANDO_2200049 MONDO:0005508 http://purl.obolibrary.org/obo/MONDO_0005508 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性多発性骨軟骨腫 hereditary multiple osteochondromas Orphanet:321 https://www.orpha.net/en/disease/detail/321 NANDO:2200049 http://nanbyodata.jp/ontology/NANDO_2200049 MONDO:0008145 http://purl.obolibrary.org/obo/MONDO_0008145 http://www.w3.org/2004/02/skos/core#closeMatch オリエ病 Ollier disease Orphanet:296 https://www.orpha.net/en/disease/detail/296 NANDO:2200074 http://nanbyodata.jp/ontology/NANDO_2200074 MONDO:0015075 http://purl.obolibrary.org/obo/MONDO_0015075 http://www.w3.org/2004/02/skos/core#closeMatch 甲状腺癌 thyroid gland carcinoma Orphanet:100088 https://www.orpha.net/en/disease/detail/100088 NANDO:2200054 http://nanbyodata.jp/ontology/NANDO_2200054 MONDO:0018271 http://purl.obolibrary.org/obo/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 Orphanet:370348 https://www.orpha.net/en/disease/detail/370348 NANDO:2200123 http://nanbyodata.jp/ontology/NANDO_2200123 MONDO:0018904 http://purl.obolibrary.org/obo/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 Orphanet:54370 https://www.orpha.net/en/disease/detail/54370 NANDO:2200103 http://nanbyodata.jp/ontology/NANDO_2200103 MONDO:0002546 http://purl.obolibrary.org/obo/MONDO_0002546 http://www.w3.org/2004/02/skos/core#exactMatch 神経鞘腫 schwannoma Orphanet:252164 https://www.orpha.net/en/disease/detail/252164 NANDO:2200104 http://nanbyodata.jp/ontology/NANDO_2200104 MONDO:0002718 http://purl.obolibrary.org/obo/MONDO_0002718 http://www.w3.org/2004/02/skos/core#exactMatch 中枢神経系奇形腫 central nervous system teratoma Orphanet:252018 https://www.orpha.net/en/disease/detail/252018 NANDO:2200057 http://nanbyodata.jp/ontology/NANDO_2200057 MONDO:0002728 http://purl.obolibrary.org/obo/MONDO_0002728 http://www.w3.org/2004/02/skos/core#exactMatch ラブドイド腫瘍 rhabdoid tumor Orphanet:69077 https://www.orpha.net/en/disease/detail/69077 NANDO:2200044 http://nanbyodata.jp/ontology/NANDO_2200044 MONDO:0005006 http://purl.obolibrary.org/obo/MONDO_0005006 http://www.w3.org/2004/02/skos/core#exactMatch 腎明細胞肉腫 clear cell sarcoma of kidney Orphanet:457246 https://www.orpha.net/en/disease/detail/457246 NANDO:2200041 http://nanbyodata.jp/ontology/NANDO_2200041 MONDO:0005035 http://purl.obolibrary.org/obo/MONDO_0005035 http://www.w3.org/2004/02/skos/core#exactMatch 神経節神経芽腫 ganglioneuroblastoma Orphanet:251877 https://www.orpha.net/en/disease/detail/251877 NANDO:2200064 http://nanbyodata.jp/ontology/NANDO_2200064 MONDO:0005058 http://purl.obolibrary.org/obo/MONDO_0005058 http://www.w3.org/2004/02/skos/core#exactMatch 平滑筋肉腫 leiomyosarcoma Orphanet:64720 https://www.orpha.net/en/disease/detail/64720 NANDO:2200065 http://nanbyodata.jp/ontology/NANDO_2200065 MONDO:0005060 http://purl.obolibrary.org/obo/MONDO_0005060 http://www.w3.org/2004/02/skos/core#exactMatch 脂肪肉腫 liposarcoma Orphanet:69078 https://www.orpha.net/en/disease/detail/69078 NANDO:2200040 http://nanbyodata.jp/ontology/NANDO_2200040 MONDO:0005072 http://purl.obolibrary.org/obo/MONDO_0005072 http://www.w3.org/2004/02/skos/core#exactMatch 神経芽腫 neuroblastoma Orphanet:635 https://www.orpha.net/en/disease/detail/635 NANDO:2200045 http://nanbyodata.jp/ontology/NANDO_2200045 MONDO:0005086 http://purl.obolibrary.org/obo/MONDO_0005086 http://www.w3.org/2004/02/skos/core#exactMatch 腎細胞癌 renal cell carcinoma Orphanet:217071 https://www.orpha.net/en/disease/detail/217071 NANDO:2200060 http://nanbyodata.jp/ontology/NANDO_2200060 MONDO:0005164 http://purl.obolibrary.org/obo/MONDO_0005164 http://www.w3.org/2004/02/skos/core#exactMatch 線維肉腫 fibrosarcoma Orphanet:2030 https://www.orpha.net/en/disease/detail/2030 NANDO:2200056 http://nanbyodata.jp/ontology/NANDO_2200056 MONDO:0005212 http://purl.obolibrary.org/obo/MONDO_0005212 http://www.w3.org/2004/02/skos/core#exactMatch 横紋筋肉腫 rhabdomyosarcoma Orphanet:780 https://www.orpha.net/en/disease/detail/780 NANDO:2200121 http://nanbyodata.jp/ontology/NANDO_2200121 MONDO:0005342 http://purl.obolibrary.org/obo/MONDO_0005342 http://www.w3.org/2004/02/skos/core#exactMatch IgA腎症 IgA glomerulonephritis Orphanet:34145 https://www.orpha.net/en/disease/detail/34145 NANDO:2200067 http://nanbyodata.jp/ontology/NANDO_2200067 MONDO:0005440 http://purl.obolibrary.org/obo/MONDO_0005440 http://www.w3.org/2004/02/skos/core#exactMatch 胎児性癌 embryonal carcinoma Orphanet:180226 https://www.orpha.net/en/disease/detail/180226 NANDO:2200069 http://nanbyodata.jp/ontology/NANDO_2200069 MONDO:0005744 http://purl.obolibrary.org/obo/MONDO_0005744 http://www.w3.org/2004/02/skos/core#exactMatch 卵黄嚢腫瘍 yolk sac tumor Orphanet:876 https://www.orpha.net/en/disease/detail/876 NANDO:2200095 http://nanbyodata.jp/ontology/NANDO_2200095 MONDO:0006373 http://purl.obolibrary.org/obo/MONDO_0006373 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体腺腫 pituitary gland adenoma Orphanet:99408 https://www.orpha.net/en/disease/detail/99408 NANDO:2200039 http://nanbyodata.jp/ontology/NANDO_2200039 MONDO:0006412 http://purl.obolibrary.org/obo/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 Orphanet:158014 https://www.orpha.net/en/disease/detail/158014 NANDO:2200079 http://nanbyodata.jp/ontology/NANDO_2200079 MONDO:0006451 http://purl.obolibrary.org/obo/MONDO_0006451 http://www.w3.org/2004/02/skos/core#exactMatch 胸腺癌 thymic carcinoma Orphanet:99868 https://www.orpha.net/en/disease/detail/99868 NANDO:2200073 http://nanbyodata.jp/ontology/NANDO_2200073 MONDO:0006639 http://purl.obolibrary.org/obo/MONDO_0006639 http://www.w3.org/2004/02/skos/core#exactMatch 副腎皮質癌 adrenal cortex carcinoma Orphanet:1501 https://www.orpha.net/en/disease/detail/1501 NANDO:2200047 http://nanbyodata.jp/ontology/NANDO_2200047 MONDO:0007256 http://purl.obolibrary.org/obo/MONDO_0007256 http://www.w3.org/2004/02/skos/core#exactMatch 肝細胞癌 hepatocellular carcinoma Orphanet:88673 https://www.orpha.net/en/disease/detail/88673 NANDO:2200090 http://nanbyodata.jp/ontology/NANDO_2200090 MONDO:0007959 http://purl.obolibrary.org/obo/MONDO_0007959 http://www.w3.org/2004/02/skos/core#exactMatch 髄芽腫 medulloblastoma Orphanet:616 https://www.orpha.net/en/disease/detail/616 NANDO:2200042 http://nanbyodata.jp/ontology/NANDO_2200042 MONDO:0008380 http://purl.obolibrary.org/obo/MONDO_0008380 http://www.w3.org/2004/02/skos/core#exactMatch 網膜芽細胞腫 retinoblastoma Orphanet:790 https://www.orpha.net/en/disease/detail/790 NANDO:2200116 http://nanbyodata.jp/ontology/NANDO_2200116 MONDO:0008682 http://purl.obolibrary.org/obo/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 Orphanet:220 https://www.orpha.net/en/disease/detail/220 NANDO:2200050 http://nanbyodata.jp/ontology/NANDO_2200050 MONDO:0008977 http://purl.obolibrary.org/obo/MONDO_0008977 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨肉腫 chondrosarcoma Orphanet:55880 https://www.orpha.net/en/disease/detail/55880 NANDO:2200098 http://nanbyodata.jp/ontology/NANDO_2200098 MONDO:0008978 http://purl.obolibrary.org/obo/MONDO_0008978 http://www.w3.org/2004/02/skos/core#exactMatch 脊索腫 chordoma Orphanet:178 https://www.orpha.net/en/disease/detail/178 NANDO:2200110 http://nanbyodata.jp/ontology/NANDO_2200110 MONDO:0009732 http://purl.obolibrary.org/obo/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 Orphanet:839 https://www.orpha.net/en/disease/detail/839 NANDO:2200093 http://nanbyodata.jp/ontology/NANDO_2200093 MONDO:0009837 http://purl.obolibrary.org/obo/MONDO_0009837 http://www.w3.org/2004/02/skos/core#exactMatch 脈絡叢乳頭腫 choroid plexus papilloma Orphanet:2807 https://www.orpha.net/en/disease/detail/2807 NANDO:2200061 http://nanbyodata.jp/ontology/NANDO_2200061 MONDO:0010434 http://purl.obolibrary.org/obo/MONDO_0010434 http://www.w3.org/2004/02/skos/core#exactMatch 滑膜肉腫 synovial sarcoma Orphanet:3273 https://www.orpha.net/en/disease/detail/3273 NANDO:2200080 http://nanbyodata.jp/ontology/NANDO_2200080 MONDO:0011014 http://purl.obolibrary.org/obo/MONDO_0011014 http://www.w3.org/2004/02/skos/core#exactMatch 胸膜肺芽腫 pleuropulmonary blastoma Orphanet:64742 https://www.orpha.net/en/disease/detail/64742 NANDO:2200063 http://nanbyodata.jp/ontology/NANDO_2200063 MONDO:0011655 http://purl.obolibrary.org/obo/MONDO_0011655 http://www.w3.org/2004/02/skos/core#exactMatch 胞巣状軟部肉腫 alveolar soft part sarcoma Orphanet:163699 https://www.orpha.net/en/disease/detail/163699 NANDO:2200117 http://nanbyodata.jp/ontology/NANDO_2200117 MONDO:0012184 http://purl.obolibrary.org/obo/MONDO_0012184 http://www.w3.org/2004/02/skos/core#exactMatch Pierson症候群 Pierson syndrome Orphanet:2670 https://www.orpha.net/en/disease/detail/2670 NANDO:2200053 http://nanbyodata.jp/ontology/NANDO_2200053 MONDO:0012817 http://purl.obolibrary.org/obo/MONDO_0012817 http://www.w3.org/2004/02/skos/core#exactMatch ユーイング肉腫 Ewing sarcoma Orphanet:319 https://www.orpha.net/en/disease/detail/319 NANDO:2200037 http://nanbyodata.jp/ontology/NANDO_2200037 MONDO:0015534 http://purl.obolibrary.org/obo/MONDO_0015534 http://www.w3.org/2004/02/skos/core#exactMatch 若年性黄色肉芽腫 juvenile xanthogranuloma Orphanet:158000 https://www.orpha.net/en/disease/detail/158000 NANDO:2200068 http://nanbyodata.jp/ontology/NANDO_2200068 MONDO:0015863 http://purl.obolibrary.org/obo/MONDO_0015863 http://www.w3.org/2004/02/skos/core#exactMatch 多胎芽腫 polyembryoma Orphanet:180229 https://www.orpha.net/en/disease/detail/180229 NANDO:2200071 http://nanbyodata.jp/ontology/NANDO_2200071 MONDO:0015864 http://purl.obolibrary.org/obo/MONDO_0015864 http://www.w3.org/2004/02/skos/core#exactMatch 混合性胚細胞腫瘍 mixed germ cell tumor Orphanet:180234 https://www.orpha.net/en/disease/detail/180234 NANDO:2200094 http://nanbyodata.jp/ontology/NANDO_2200094 MONDO:0016642 http://purl.obolibrary.org/obo/MONDO_0016642 http://www.w3.org/2004/02/skos/core#exactMatch 髄膜腫 meningioma Orphanet:2495 https://www.orpha.net/en/disease/detail/2495 NANDO:2200086 http://nanbyodata.jp/ontology/NANDO_2200086 MONDO:0016684 http://purl.obolibrary.org/obo/MONDO_0016684 http://www.w3.org/2004/02/skos/core#exactMatch 退形成性星細胞腫 anaplastic astrocytoma Orphanet:251589 https://www.orpha.net/en/disease/detail/251589 NANDO:2200085 http://nanbyodata.jp/ontology/NANDO_2200085 MONDO:0016686 http://purl.obolibrary.org/obo/MONDO_0016686 http://www.w3.org/2004/02/skos/core#exactMatch びまん性星細胞腫 diffuse astrocytoma Orphanet:251595 https://www.orpha.net/en/disease/detail/251595 NANDO:2200084 http://nanbyodata.jp/ontology/NANDO_2200084 MONDO:0016691 http://purl.obolibrary.org/obo/MONDO_0016691 http://www.w3.org/2004/02/skos/core#exactMatch 毛様細胞性星細胞腫 pilocytic astrocytoma Orphanet:251612 https://www.orpha.net/en/disease/detail/251612 NANDO:2200089 http://nanbyodata.jp/ontology/NANDO_2200089 MONDO:0016695 http://purl.obolibrary.org/obo/MONDO_0016695 http://www.w3.org/2004/02/skos/core#exactMatch 乏突起神経膠腫 oligodendroglioma Orphanet:251627 https://www.orpha.net/en/disease/detail/251627 NANDO:2200088 http://nanbyodata.jp/ontology/NANDO_2200088 MONDO:0016698 http://purl.obolibrary.org/obo/MONDO_0016698 http://www.w3.org/2004/02/skos/core#exactMatch 上衣腫 ependymoma Orphanet:251636 https://www.orpha.net/en/disease/detail/251636 NANDO:2200092 http://nanbyodata.jp/ontology/NANDO_2200092 MONDO:0016723 http://purl.obolibrary.org/obo/MONDO_0016723 http://www.w3.org/2004/02/skos/core#exactMatch 松果体腫 pineocytoma Orphanet:251912 https://www.orpha.net/en/disease/detail/251912 NANDO:2200097 http://nanbyodata.jp/ontology/NANDO_2200097 MONDO:0016730 http://purl.obolibrary.org/obo/MONDO_0016730 http://www.w3.org/2004/02/skos/core#exactMatch 神経節腫 gangliocytoma Orphanet:251937 https://www.orpha.net/en/disease/detail/251937 NANDO:2200096 http://nanbyodata.jp/ontology/NANDO_2200096 MONDO:0016733 http://purl.obolibrary.org/obo/MONDO_0016733 http://www.w3.org/2004/02/skos/core#exactMatch 神経節膠腫 ganglioglioma Orphanet:251949 https://www.orpha.net/en/disease/detail/251949 NANDO:2200102 http://nanbyodata.jp/ontology/NANDO_2200102 MONDO:0017827 http://purl.obolibrary.org/obo/MONDO_0017827 http://www.w3.org/2004/02/skos/core#exactMatch 悪性腹膜神経鞘腫 malignant peripheral nerve sheath tumor Orphanet:3148 https://www.orpha.net/en/disease/detail/3148 NANDO:2200038 http://nanbyodata.jp/ontology/NANDO_2200038 MONDO:0018153 http://purl.obolibrary.org/obo/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 Orphanet:35687 https://www.orpha.net/en/disease/detail/35687 NANDO:2200087 http://nanbyodata.jp/ontology/NANDO_2200087 MONDO:0018177 http://purl.obolibrary.org/obo/MONDO_0018177 http://www.w3.org/2004/02/skos/core#exactMatch 膠芽腫 glioblastoma Orphanet:360 https://www.orpha.net/en/disease/detail/360 NANDO:2200055 http://nanbyodata.jp/ontology/NANDO_2200055 MONDO:0018271 http://purl.obolibrary.org/obo/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 Orphanet:370348 https://www.orpha.net/en/disease/detail/370348 NANDO:2200046 http://nanbyodata.jp/ontology/NANDO_2200046 MONDO:0018666 http://purl.obolibrary.org/obo/MONDO_0018666 http://www.w3.org/2004/02/skos/core#exactMatch 肝芽腫 hepatoblastoma Orphanet:449 https://www.orpha.net/en/disease/detail/449 NANDO:2200091 http://nanbyodata.jp/ontology/NANDO_2200091 MONDO:0018907 http://purl.obolibrary.org/obo/MONDO_0018907 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋咽頭腫 craniopharyngioma Orphanet:54595 https://www.orpha.net/en/disease/detail/54595 NANDO:2200043 http://nanbyodata.jp/ontology/NANDO_2200043 MONDO:0019004 http://purl.obolibrary.org/obo/MONDO_0019004 http://www.w3.org/2004/02/skos/core#exactMatch 腎ウィルムス腫瘍 kidney Wilms tumor Orphanet:654 https://www.orpha.net/en/disease/detail/654 NANDO:2200082 http://nanbyodata.jp/ontology/NANDO_2200082 MONDO:0019035 http://purl.obolibrary.org/obo/MONDO_0019035 http://www.w3.org/2004/02/skos/core#exactMatch 膵芽腫 pancreatoblastoma Orphanet:677 https://www.orpha.net/en/disease/detail/677 NANDO:2200059 http://nanbyodata.jp/ontology/NANDO_2200059 MONDO:0019373 http://purl.obolibrary.org/obo/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 Orphanet:83469 https://www.orpha.net/en/disease/detail/83469 NANDO:2200036 http://nanbyodata.jp/ontology/NANDO_2200036 MONDO:0019480 http://purl.obolibrary.org/obo/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 Orphanet:86897 https://www.orpha.net/en/disease/detail/86897 NANDO:2200118 http://nanbyodata.jp/ontology/NANDO_2200118 MONDO:0020022 http://purl.obolibrary.org/obo/MONDO_0020022 http://www.w3.org/2004/02/skos/core#exactMatch 中枢神経奇形症候群 central nervous system malformation Orphanet:98044 https://www.orpha.net/en/disease/detail/98044 NANDO:2200101 http://nanbyodata.jp/ontology/NANDO_2200101 MONDO:0020560 http://purl.obolibrary.org/obo/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 Orphanet:99966 https://www.orpha.net/en/disease/detail/99966 NANDO:2200138 http://nanbyodata.jp/ontology/NANDO_2200138 MONDO:0007099 http://purl.obolibrary.org/obo/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 Orphanet:85450 https://www.orpha.net/en/disease/detail/85450 NANDO:2200190 http://nanbyodata.jp/ontology/NANDO_2200190 MONDO:0007879 http://purl.obolibrary.org/obo/MONDO_0007879 http://www.w3.org/2004/02/skos/core#closeMatch 喉頭閉鎖症 larynx atresia Orphanet:1202 https://www.orpha.net/en/disease/detail/1202 NANDO:2200140 http://nanbyodata.jp/ontology/NANDO_2200140 MONDO:0009728 http://purl.obolibrary.org/obo/MONDO_0009728 http://www.w3.org/2004/02/skos/core#closeMatch ネフロン癆1 nephronophthisis 1 Orphanet:93592 https://www.orpha.net/en/disease/detail/93592 NANDO:2200190 http://nanbyodata.jp/ontology/NANDO_2200190 MONDO:0015395 http://purl.obolibrary.org/obo/MONDO_0015395 http://www.w3.org/2004/02/skos/core#closeMatch 先天性声門下狭窄症 congenital subglottic stenosis Orphanet:141121 https://www.orpha.net/en/disease/detail/141121 NANDO:2200204 http://nanbyodata.jp/ontology/NANDO_2200204 MONDO:0016575 http://purl.obolibrary.org/obo/MONDO_0016575 http://www.w3.org/2004/02/skos/core#closeMatch 原発性線毛機能不全症 primary ciliary dyskinesia Orphanet:244 https://www.orpha.net/en/disease/detail/244 NANDO:2200170 http://nanbyodata.jp/ontology/NANDO_2200170 MONDO:0019005 http://purl.obolibrary.org/obo/MONDO_0019005 http://www.w3.org/2004/02/skos/core#closeMatch ネフロン癆 nephronophthisis Orphanet:655 https://www.orpha.net/en/disease/detail/655 NANDO:2200138 http://nanbyodata.jp/ontology/NANDO_2200138 MONDO:0019065 http://purl.obolibrary.org/obo/MONDO_0019065 http://www.w3.org/2004/02/skos/core#closeMatch アミロイドーシス amyloidosis Orphanet:69 https://www.orpha.net/en/disease/detail/69 NANDO:2200153 http://nanbyodata.jp/ontology/NANDO_2200153 MONDO:0004691 http://purl.obolibrary.org/obo/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 Orphanet:730 https://www.orpha.net/en/disease/detail/730 NANDO:2200133 http://nanbyodata.jp/ontology/NANDO_2200133 MONDO:0007671 http://purl.obolibrary.org/obo/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 Orphanet:84090 https://www.orpha.net/en/disease/detail/84090 NANDO:2200132 http://nanbyodata.jp/ontology/NANDO_2200132 MONDO:0008061 http://purl.obolibrary.org/obo/MONDO_0008061 http://www.w3.org/2004/02/skos/core#exactMatch ネイル・パテラ症候群 nail-patella syndrome Orphanet:2614 https://www.orpha.net/en/disease/detail/2614 NANDO:2200125 http://nanbyodata.jp/ontology/NANDO_2200125 MONDO:0009303 http://purl.obolibrary.org/obo/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 Orphanet:375 https://www.orpha.net/en/disease/detail/375 NANDO:2200154 http://nanbyodata.jp/ontology/NANDO_2200154 MONDO:0009889 http://purl.obolibrary.org/obo/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 Orphanet:731 https://www.orpha.net/en/disease/detail/731 NANDO:2200145 http://nanbyodata.jp/ontology/NANDO_2200145 MONDO:0009904 http://purl.obolibrary.org/obo/MONDO_0009904 http://www.w3.org/2004/02/skos/core#exactMatch ギテルマン症候群 Gitelman syndrome Orphanet:358 https://www.orpha.net/en/disease/detail/358 NANDO:2200134 http://nanbyodata.jp/ontology/NANDO_2200134 MONDO:0012725 http://purl.obolibrary.org/obo/MONDO_0012725 http://www.w3.org/2004/02/skos/core#exactMatch リポタンパク糸球体症 lipoprotein glomerulopathy Orphanet:329481 https://www.orpha.net/en/disease/detail/329481 NANDO:2200146 http://nanbyodata.jp/ontology/NANDO_2200146 MONDO:0015231 http://purl.obolibrary.org/obo/MONDO_0015231 http://www.w3.org/2004/02/skos/core#exactMatch バーター病 Bartter syndrome Orphanet:112 https://www.orpha.net/en/disease/detail/112 NANDO:2200131 http://nanbyodata.jp/ontology/NANDO_2200131 MONDO:0016244 http://purl.obolibrary.org/obo/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 Orphanet:2134 https://www.orpha.net/en/disease/detail/2134 NANDO:2200126 http://nanbyodata.jp/ontology/NANDO_2200126 MONDO:0018965 http://purl.obolibrary.org/obo/MONDO_0018965 http://www.w3.org/2004/02/skos/core#exactMatch アルポート症候群 Alport syndrome Orphanet:63 https://www.orpha.net/en/disease/detail/63 NANDO:2200140 http://nanbyodata.jp/ontology/NANDO_2200140 MONDO:0019005 http://purl.obolibrary.org/obo/MONDO_0019005 http://www.w3.org/2004/02/skos/core#exactMatch ネフロン癆 nephronophthisis Orphanet:655 https://www.orpha.net/en/disease/detail/655 NANDO:2200155 http://nanbyodata.jp/ontology/NANDO_2200155 MONDO:0019637 http://purl.obolibrary.org/obo/MONDO_0019637 http://www.w3.org/2004/02/skos/core#exactMatch 低形成腎 renal hypoplasia Orphanet:93101 https://www.orpha.net/en/disease/detail/93101 NANDO:2200199 http://nanbyodata.jp/ontology/NANDO_2200199 MONDO:0002429 http://purl.obolibrary.org/obo/MONDO_0002429 http://www.w3.org/2004/02/skos/core#exactMatch 特発性間質性肺炎 idiopathic interstitial pneumonia Orphanet:98300 https://www.orpha.net/en/disease/detail/98300 NANDO:2200210 http://nanbyodata.jp/ontology/NANDO_2200210 MONDO:0005711 http://purl.obolibrary.org/obo/MONDO_0005711 http://www.w3.org/2004/02/skos/core#exactMatch 先天性横隔膜ヘルニア congenital diaphragmatic hernia Orphanet:2140 https://www.orpha.net/en/disease/detail/2140 NANDO:2200185 http://nanbyodata.jp/ontology/NANDO_2200185 MONDO:0007032 http://purl.obolibrary.org/obo/MONDO_0007032 http://www.w3.org/2004/02/skos/core#exactMatch Prune belly症候群 prune belly syndrome Orphanet:2970 https://www.orpha.net/en/disease/detail/2970 NANDO:2200207 http://nanbyodata.jp/ontology/NANDO_2200207 MONDO:0008346 http://purl.obolibrary.org/obo/MONDO_0008346 http://www.w3.org/2004/02/skos/core#exactMatch 肺血鉄症 pulmonary hemosiderosis Orphanet:99931 https://www.orpha.net/en/disease/detail/99931 NANDO:2200205 http://nanbyodata.jp/ontology/NANDO_2200205 MONDO:0009061 http://purl.obolibrary.org/obo/MONDO_0009061 http://www.w3.org/2004/02/skos/core#exactMatch 嚢胞性線維症 cystic fibrosis Orphanet:586 https://www.orpha.net/en/disease/detail/586 NANDO:2200202 http://nanbyodata.jp/ontology/NANDO_2200202 MONDO:0009928 http://purl.obolibrary.org/obo/MONDO_0009928 http://www.w3.org/2004/02/skos/core#exactMatch 肺胞微石症 pulmonary alveolar microlithiasis Orphanet:60025 https://www.orpha.net/en/disease/detail/60025 NANDO:2200188 http://nanbyodata.jp/ontology/NANDO_2200188 MONDO:0010645 http://purl.obolibrary.org/obo/MONDO_0010645 http://www.w3.org/2004/02/skos/core#exactMatch 眼腎脳症候群 oculocerebrorenal syndrome Orphanet:534 https://www.orpha.net/en/disease/detail/534 NANDO:2200200 http://nanbyodata.jp/ontology/NANDO_2200200 MONDO:0012580 http://purl.obolibrary.org/obo/MONDO_0012580 http://www.w3.org/2004/02/skos/core#exactMatch 肺胞蛋白症 hereditary pulmonary alveolar proteinosis Orphanet:264675 https://www.orpha.net/en/disease/detail/264675 NANDO:2200209 http://nanbyodata.jp/ontology/NANDO_2200209 MONDO:0015265 http://purl.obolibrary.org/obo/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 Orphanet:1303 https://www.orpha.net/en/disease/detail/1303 NANDO:2200173 http://nanbyodata.jp/ontology/NANDO_2200173 MONDO:0015268 http://purl.obolibrary.org/obo/MONDO_0015268 http://www.w3.org/2004/02/skos/core#exactMatch 髄質海綿腎 medullary sponge kidney Orphanet:1309 https://www.orpha.net/en/disease/detail/1309 NANDO:2200158 http://nanbyodata.jp/ontology/NANDO_2200158 MONDO:0015988 http://purl.obolibrary.org/obo/MONDO_0015988 http://www.w3.org/2004/02/skos/core#exactMatch 多嚢胞性異形成腎 multicystic dysplastic kidney Orphanet:1851 https://www.orpha.net/en/disease/detail/1851 NANDO:2200159 http://nanbyodata.jp/ontology/NANDO_2200159 MONDO:0016407 http://purl.obolibrary.org/obo/MONDO_0016407 http://www.w3.org/2004/02/skos/core#exactMatch 寡巨大糸球体症 oligomeganephronia Orphanet:2260 https://www.orpha.net/en/disease/detail/2260 NANDO:2200203 http://nanbyodata.jp/ontology/NANDO_2200203 MONDO:0016575 http://purl.obolibrary.org/obo/MONDO_0016575 http://www.w3.org/2004/02/skos/core#exactMatch 原発性線毛機能不全症 primary ciliary dyskinesia Orphanet:244 https://www.orpha.net/en/disease/detail/244 NANDO:2200156 http://nanbyodata.jp/ontology/NANDO_2200156 MONDO:0018470 http://purl.obolibrary.org/obo/MONDO_0018470 http://www.w3.org/2004/02/skos/core#exactMatch 腎無形成 renal agenesis Orphanet:411709 https://www.orpha.net/en/disease/detail/411709 NANDO:2200184 http://nanbyodata.jp/ontology/NANDO_2200184 MONDO:0018960 http://purl.obolibrary.org/obo/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 Orphanet:617 https://www.orpha.net/en/disease/detail/617 NANDO:2200161 http://nanbyodata.jp/ontology/NANDO_2200161 MONDO:0019638 http://purl.obolibrary.org/obo/MONDO_0019638 http://www.w3.org/2004/02/skos/core#exactMatch 腎異形成 renal dysplasia Orphanet:93108 https://www.orpha.net/en/disease/detail/93108 NANDO:2200177 http://nanbyodata.jp/ontology/NANDO_2200177 MONDO:0019639 http://purl.obolibrary.org/obo/MONDO_0019639 http://www.w3.org/2004/02/skos/core#exactMatch 巨大腎杯症 congenital megacalycosis Orphanet:93109 https://www.orpha.net/en/disease/detail/93109 NANDO:2200195 http://nanbyodata.jp/ontology/NANDO_2200195 MONDO:0019804 http://purl.obolibrary.org/obo/MONDO_0019804 http://www.w3.org/2004/02/skos/core#exactMatch 気管軟化症 tracheomalacia Orphanet:95430 https://www.orpha.net/en/disease/detail/95430 NANDO:2200171 http://nanbyodata.jp/ontology/NANDO_2200171 MONDO:0019983 http://purl.obolibrary.org/obo/MONDO_0019983 http://www.w3.org/2004/02/skos/core#exactMatch 多房性腎嚢胞 multiloculated renal cyst Orphanet:97366 https://www.orpha.net/en/disease/detail/97366 NANDO:2200284 http://nanbyodata.jp/ontology/NANDO_2200284 MONDO:0007345 http://purl.obolibrary.org/obo/MONDO_0007345 http://www.w3.org/2004/02/skos/core#closeMatch 大動脈縮窄症 aorta coarctation Orphanet:1457 https://www.orpha.net/en/disease/detail/1457 NANDO:2200214 http://nanbyodata.jp/ontology/NANDO_2200214 MONDO:0009326 http://purl.obolibrary.org/obo/MONDO_0009326 http://www.w3.org/2004/02/skos/core#closeMatch 先天性心ブロック congenital heart block Orphanet:60041 https://www.orpha.net/en/disease/detail/60041 NANDO:2200284 http://nanbyodata.jp/ontology/NANDO_2200284 MONDO:0015446 http://purl.obolibrary.org/obo/MONDO_0015446 http://www.w3.org/2004/02/skos/core#closeMatch 大動脈縮窄複合 atypical coarctation of aorta Orphanet:1456 https://www.orpha.net/en/disease/detail/1456 NANDO:2200234 http://nanbyodata.jp/ontology/NANDO_2200234 MONDO:0015677 http://purl.obolibrary.org/obo/MONDO_0015677 http://www.w3.org/2004/02/skos/core#closeMatch 心室瘤 cardiac diverticulum Orphanet:1686 https://www.orpha.net/en/disease/detail/1686 NANDO:2200216 http://nanbyodata.jp/ontology/NANDO_2200216 MONDO:0017990 http://purl.obolibrary.org/obo/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 Orphanet:3286 https://www.orpha.net/en/disease/detail/3286 NANDO:2200228 http://nanbyodata.jp/ontology/NANDO_2200228 MONDO:0019171 http://purl.obolibrary.org/obo/MONDO_0019171 http://www.w3.org/2004/02/skos/core#closeMatch 家族性QT延長症候群 familial long QT syndrome Orphanet:101016 https://www.orpha.net/en/disease/detail/101016 NANDO:2200228 http://nanbyodata.jp/ontology/NANDO_2200228 MONDO:0019171 http://purl.obolibrary.org/obo/MONDO_0019171 http://www.w3.org/2004/02/skos/core#closeMatch 家族性QT延長症候群 familial long QT syndrome Orphanet:768 https://www.orpha.net/en/disease/detail/768 NANDO:2200258 http://nanbyodata.jp/ontology/NANDO_2200258 MONDO:0000153 http://purl.obolibrary.org/obo/MONDO_0000153 http://www.w3.org/2004/02/skos/core#exactMatch 完全大血管転位症 transposition of the great arteries Orphanet:216675 https://www.orpha.net/en/disease/detail/216675 NANDO:2200249 http://nanbyodata.jp/ontology/NANDO_2200249 MONDO:0004933 http://purl.obolibrary.org/obo/MONDO_0004933 http://www.w3.org/2004/02/skos/core#exactMatch 左心低形成症候群 hypoplastic left heart syndrome Orphanet:2248 https://www.orpha.net/en/disease/detail/2248 NANDO:2200232 http://nanbyodata.jp/ontology/NANDO_2200232 MONDO:0005021 http://purl.obolibrary.org/obo/MONDO_0005021 http://www.w3.org/2004/02/skos/core#exactMatch 拡張型心筋症 dilated cardiomyopathy Orphanet:217604 https://www.orpha.net/en/disease/detail/217604 NANDO:2200229 http://nanbyodata.jp/ontology/NANDO_2200229 MONDO:0005045 http://purl.obolibrary.org/obo/MONDO_0005045 http://www.w3.org/2004/02/skos/core#exactMatch 肥大型心筋症 hypertrophic cardiomyopathy Orphanet:217569 https://www.orpha.net/en/disease/detail/217569 NANDO:2200233 http://nanbyodata.jp/ontology/NANDO_2200233 MONDO:0005201 http://purl.obolibrary.org/obo/MONDO_0005201 http://www.w3.org/2004/02/skos/core#exactMatch 拘束型心筋症 restrictive cardiomyopathy Orphanet:217632 https://www.orpha.net/en/disease/detail/217632 NANDO:2200271 http://nanbyodata.jp/ontology/NANDO_2200271 MONDO:0007130 http://purl.obolibrary.org/obo/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 Orphanet:99125 https://www.orpha.net/en/disease/detail/99125 NANDO:2200283 http://nanbyodata.jp/ontology/NANDO_2200283 MONDO:0007345 http://purl.obolibrary.org/obo/MONDO_0007345 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈縮窄症 aorta coarctation Orphanet:1457 https://www.orpha.net/en/disease/detail/1457 NANDO:2200252 http://nanbyodata.jp/ontology/NANDO_2200252 MONDO:0008343 http://purl.obolibrary.org/obo/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 Orphanet:1207 https://www.orpha.net/en/disease/detail/1207 NANDO:2200285 http://nanbyodata.jp/ontology/NANDO_2200285 MONDO:0008504 http://purl.obolibrary.org/obo/MONDO_0008504 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弁上狭窄症 supravalvular aortic stenosis Orphanet:3193 https://www.orpha.net/en/disease/detail/3193 NANDO:2200254 http://nanbyodata.jp/ontology/NANDO_2200254 MONDO:0008542 http://purl.obolibrary.org/obo/MONDO_0008542 http://www.w3.org/2004/02/skos/core#exactMatch ファロー四徴症 tetralogy of fallot Orphanet:3303 https://www.orpha.net/en/disease/detail/3303 NANDO:2200286 http://nanbyodata.jp/ontology/NANDO_2200286 MONDO:0008678 http://purl.obolibrary.org/obo/MONDO_0008678 http://www.w3.org/2004/02/skos/core#exactMatch ウィリアムズ症候群 Williams syndrome Orphanet:904 https://www.orpha.net/en/disease/detail/904 NANDO:2200288 http://nanbyodata.jp/ontology/NANDO_2200288 MONDO:0009010 http://purl.obolibrary.org/obo/MONDO_0009010 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弓離断症 aortic arch interruption Orphanet:2299 https://www.orpha.net/en/disease/detail/2299 NANDO:2200260 http://nanbyodata.jp/ontology/NANDO_2200260 MONDO:0009144 http://purl.obolibrary.org/obo/MONDO_0009144 http://www.w3.org/2004/02/skos/core#exactMatch エプスタイン病 Ebstein anomaly Orphanet:1880 https://www.orpha.net/en/disease/detail/1880 NANDO:2200235 http://nanbyodata.jp/ontology/NANDO_2200235 MONDO:0009169 http://purl.obolibrary.org/obo/MONDO_0009169 http://www.w3.org/2004/02/skos/core#exactMatch 心内膜線維弾性症 endocardial fibroelastosis Orphanet:2022 https://www.orpha.net/en/disease/detail/2022 NANDO:2200253 http://nanbyodata.jp/ontology/NANDO_2200253 MONDO:0009931 http://purl.obolibrary.org/obo/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 Orphanet:1208 https://www.orpha.net/en/disease/detail/1208 NANDO:2200251 http://nanbyodata.jp/ontology/NANDO_2200251 MONDO:0011514 http://purl.obolibrary.org/obo/MONDO_0011514 http://www.w3.org/2004/02/skos/core#exactMatch 三尖弁閉鎖症 tricuspid atresia Orphanet:1209 https://www.orpha.net/en/disease/detail/1209 NANDO:2200293 http://nanbyodata.jp/ontology/NANDO_2200293 MONDO:0015197 http://purl.obolibrary.org/obo/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 Orphanet:1054 https://www.orpha.net/en/disease/detail/1054 NANDO:2200269 http://nanbyodata.jp/ontology/NANDO_2200269 MONDO:0015273 http://purl.obolibrary.org/obo/MONDO_0015273 http://www.w3.org/2004/02/skos/core#exactMatch 完全型房室中隔欠損症 complete atrioventricular canal Orphanet:1329 https://www.orpha.net/en/disease/detail/1329 NANDO:2200268 http://nanbyodata.jp/ontology/NANDO_2200268 MONDO:0015275 http://purl.obolibrary.org/obo/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 Orphanet:1330 https://www.orpha.net/en/disease/detail/1330 NANDO:2200263 http://nanbyodata.jp/ontology/NANDO_2200263 MONDO:0015450 http://purl.obolibrary.org/obo/MONDO_0015450 http://www.w3.org/2004/02/skos/core#exactMatch 三心房心 triatrial heart Orphanet:1463 https://www.orpha.net/en/disease/detail/1463 NANDO:2200250 http://nanbyodata.jp/ontology/NANDO_2200250 MONDO:0015451 http://purl.obolibrary.org/obo/MONDO_0015451 http://www.w3.org/2004/02/skos/core#exactMatch 単心室症 univentricular heart Orphanet:1464 https://www.orpha.net/en/disease/detail/1464 NANDO:2200298 http://nanbyodata.jp/ontology/NANDO_2200298 MONDO:0015924 http://purl.obolibrary.org/obo/MONDO_0015924 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈性肺高血圧症 pulmonary arterial hypertension Orphanet:182090 https://www.orpha.net/en/disease/detail/182090 NANDO:2200296 http://nanbyodata.jp/ontology/NANDO_2200296 MONDO:0016081 http://purl.obolibrary.org/obo/MONDO_0016081 http://www.w3.org/2004/02/skos/core#exactMatch 冠動脈瘻 coronary arterial fistulas Orphanet:2041 https://www.orpha.net/en/disease/detail/2041 NANDO:2200259 http://nanbyodata.jp/ontology/NANDO_2200259 MONDO:0016301 http://purl.obolibrary.org/obo/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 Orphanet:216694 https://www.orpha.net/en/disease/detail/216694 NANDO:2200275 http://nanbyodata.jp/ontology/NANDO_2200275 MONDO:0016581 http://purl.obolibrary.org/obo/MONDO_0016581 http://www.w3.org/2004/02/skos/core#exactMatch 右室二腔症 conotruncal heart malformations Orphanet:2445 https://www.orpha.net/en/disease/detail/2445 NANDO:2200230 http://nanbyodata.jp/ontology/NANDO_2200230 MONDO:0016587 http://purl.obolibrary.org/obo/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 Orphanet:247 https://www.orpha.net/en/disease/detail/247 NANDO:2200273 http://nanbyodata.jp/ontology/NANDO_2200273 MONDO:0017864 http://purl.obolibrary.org/obo/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 Orphanet:3188 https://www.orpha.net/en/disease/detail/3188 NANDO:2200278 http://nanbyodata.jp/ontology/NANDO_2200278 MONDO:0017870 http://purl.obolibrary.org/obo/MONDO_0017870 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈弁上狭窄症 supravalvular pulmonary stenosis Orphanet:3192 https://www.orpha.net/en/disease/detail/3192 NANDO:2200221 http://nanbyodata.jp/ontology/NANDO_2200221 MONDO:0017990 http://purl.obolibrary.org/obo/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 Orphanet:3286 https://www.orpha.net/en/disease/detail/3286 NANDO:2200261 http://nanbyodata.jp/ontology/NANDO_2200261 MONDO:0018072 http://purl.obolibrary.org/obo/MONDO_0018072 http://www.w3.org/2004/02/skos/core#exactMatch 総動脈幹遺残症 persistent truncus arteriosus Orphanet:3384 https://www.orpha.net/en/disease/detail/3384 NANDO:2200256 http://nanbyodata.jp/ontology/NANDO_2200256 MONDO:0018089 http://purl.obolibrary.org/obo/MONDO_0018089 http://www.w3.org/2004/02/skos/core#exactMatch 両大血管右室起始症 double outlet right ventricle Orphanet:3426 https://www.orpha.net/en/disease/detail/3426 NANDO:2200257 http://nanbyodata.jp/ontology/NANDO_2200257 MONDO:0018090 http://purl.obolibrary.org/obo/MONDO_0018090 http://www.w3.org/2004/02/skos/core#exactMatch 両大血管左室起始症 double outlet left ventricle Orphanet:3427 https://www.orpha.net/en/disease/detail/3427 NANDO:2200231 http://nanbyodata.jp/ontology/NANDO_2200231 MONDO:0018901 http://purl.obolibrary.org/obo/MONDO_0018901 http://www.w3.org/2004/02/skos/core#exactMatch 心筋緻密化障害 left ventricular noncompaction Orphanet:54260 https://www.orpha.net/en/disease/detail/54260 NANDO:2200282 http://nanbyodata.jp/ontology/NANDO_2200282 MONDO:0020007 http://purl.obolibrary.org/obo/MONDO_0020007 http://www.w3.org/2004/02/skos/core#exactMatch 一側肺動脈欠損 absence of the pulmonary artery Orphanet:980 https://www.orpha.net/en/disease/detail/980 NANDO:2200280 http://nanbyodata.jp/ontology/NANDO_2200280 MONDO:0020064 http://purl.obolibrary.org/obo/MONDO_0020064 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈弁欠損 pulmonary valve agenesis Orphanet:982 https://www.orpha.net/en/disease/detail/982 NANDO:2200281 http://nanbyodata.jp/ontology/NANDO_2200281 MONDO:0020391 http://purl.obolibrary.org/obo/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 Orphanet:99050 https://www.orpha.net/en/disease/detail/99050 NANDO:2200290 http://nanbyodata.jp/ontology/NANDO_2200290 MONDO:0020413 http://purl.obolibrary.org/obo/MONDO_0020413 http://www.w3.org/2004/02/skos/core#exactMatch 重複大動脈弓症 encircling double aortic arch Orphanet:99075 https://www.orpha.net/en/disease/detail/99075 NANDO:2200274 http://nanbyodata.jp/ontology/NANDO_2200274 MONDO:0020428 http://purl.obolibrary.org/obo/MONDO_0020428 http://www.w3.org/2004/02/skos/core#exactMatch 左室右房交通症 congenital Gerbode defect Orphanet:99095 https://www.orpha.net/en/disease/detail/99095 NANDO:2200266 http://nanbyodata.jp/ontology/NANDO_2200266 MONDO:0020434 http://purl.obolibrary.org/obo/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 Orphanet:99103 https://www.orpha.net/en/disease/detail/99103 NANDO:2200267 http://nanbyodata.jp/ontology/NANDO_2200267 MONDO:0020436 http://purl.obolibrary.org/obo/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 Orphanet:99105 https://www.orpha.net/en/disease/detail/99105 NANDO:2200272 http://nanbyodata.jp/ontology/NANDO_2200272 MONDO:0020453 http://purl.obolibrary.org/obo/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 Orphanet:99124 https://www.orpha.net/en/disease/detail/99124 NANDO:2200346 http://nanbyodata.jp/ontology/NANDO_2200346 MONDO:0009411 http://purl.obolibrary.org/obo/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 Orphanet:3453 https://www.orpha.net/en/disease/detail/3453 NANDO:2200357 http://nanbyodata.jp/ontology/NANDO_2200357 MONDO:0010264 http://purl.obolibrary.org/obo/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 Orphanet:95702 https://www.orpha.net/en/disease/detail/95702 NANDO:2200359 http://nanbyodata.jp/ontology/NANDO_2200359 MONDO:0015129 http://purl.obolibrary.org/obo/MONDO_0015129 http://www.w3.org/2004/02/skos/core#closeMatch アジソン病 chronic primary adrenal insufficiency Orphanet:101959 https://www.orpha.net/en/disease/detail/101959 NANDO:2200340 http://nanbyodata.jp/ontology/NANDO_2200340 MONDO:0016410 http://purl.obolibrary.org/obo/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 Orphanet:226298 https://www.orpha.net/en/disease/detail/226298 NANDO:2200317 http://nanbyodata.jp/ontology/NANDO_2200317 MONDO:0000050 http://purl.obolibrary.org/obo/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 Orphanet:631 https://www.orpha.net/en/disease/detail/631 NANDO:2200363 http://nanbyodata.jp/ontology/NANDO_2200363 MONDO:0008323 http://purl.obolibrary.org/obo/MONDO_0008323 http://www.w3.org/2004/02/skos/core#exactMatch リドル症候群 Liddle syndrome Orphanet:526 https://www.orpha.net/en/disease/detail/526 NANDO:2200371 http://nanbyodata.jp/ontology/NANDO_2200371 MONDO:0008727 http://purl.obolibrary.org/obo/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 Orphanet:90791 https://www.orpha.net/en/disease/detail/90791 NANDO:2200374 http://nanbyodata.jp/ontology/NANDO_2200374 MONDO:0008728 http://purl.obolibrary.org/obo/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 Orphanet:90794 https://www.orpha.net/en/disease/detail/90794 NANDO:2200372 http://nanbyodata.jp/ontology/NANDO_2200372 MONDO:0008729 http://purl.obolibrary.org/obo/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 Orphanet:90795 https://www.orpha.net/en/disease/detail/90795 NANDO:2200373 http://nanbyodata.jp/ontology/NANDO_2200373 MONDO:0008730 http://purl.obolibrary.org/obo/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 Orphanet:90793 https://www.orpha.net/en/disease/detail/90793 NANDO:2200362 http://nanbyodata.jp/ontology/NANDO_2200362 MONDO:0009025 http://purl.obolibrary.org/obo/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 Orphanet:320 https://www.orpha.net/en/disease/detail/320 NANDO:2200353 http://nanbyodata.jp/ontology/NANDO_2200353 MONDO:0009049 http://purl.obolibrary.org/obo/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 Orphanet:189427 https://www.orpha.net/en/disease/detail/189427 NANDO:2200350 http://nanbyodata.jp/ontology/NANDO_2200350 MONDO:0009050 http://purl.obolibrary.org/obo/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 Orphanet:96253 https://www.orpha.net/en/disease/detail/96253 NANDO:2200384 http://nanbyodata.jp/ontology/NANDO_2200384 MONDO:0009299 http://purl.obolibrary.org/obo/MONDO_0009299 http://www.w3.org/2004/02/skos/core#exactMatch 46XX性腺異形成症 46 XX gonadal dysgenesis Orphanet:243 https://www.orpha.net/en/disease/detail/243 NANDO:2200347 http://nanbyodata.jp/ontology/NANDO_2200347 MONDO:0010012 http://purl.obolibrary.org/obo/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 Orphanet:3143 https://www.orpha.net/en/disease/detail/3143 NANDO:2200320 http://nanbyodata.jp/ontology/NANDO_2200320 MONDO:0010038 http://purl.obolibrary.org/obo/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 Orphanet:73273 https://www.orpha.net/en/disease/detail/73273 NANDO:2200348 http://nanbyodata.jp/ontology/NANDO_2200348 MONDO:0012912 http://purl.obolibrary.org/obo/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 Orphanet:79445 https://www.orpha.net/en/disease/detail/79445 NANDO:2200375 http://nanbyodata.jp/ontology/NANDO_2200375 MONDO:0013310 http://purl.obolibrary.org/obo/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 Orphanet:95699 https://www.orpha.net/en/disease/detail/95699 NANDO:2200358 http://nanbyodata.jp/ontology/NANDO_2200358 MONDO:0014421 http://purl.obolibrary.org/obo/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 Orphanet:786 https://www.orpha.net/en/disease/detail/786 NANDO:2200360 http://nanbyodata.jp/ontology/NANDO_2200360 MONDO:0015129 http://purl.obolibrary.org/obo/MONDO_0015129 http://www.w3.org/2004/02/skos/core#exactMatch アジソン病 chronic primary adrenal insufficiency Orphanet:101959 https://www.orpha.net/en/disease/detail/101959 NANDO:2200324 http://nanbyodata.jp/ontology/NANDO_2200324 MONDO:0015790 http://purl.obolibrary.org/obo/MONDO_0015790 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性尿崩症 central diabetes insipidus Orphanet:178029 https://www.orpha.net/en/disease/detail/178029 NANDO:2200378 http://nanbyodata.jp/ontology/NANDO_2200378 MONDO:0015791 http://purl.obolibrary.org/obo/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 Orphanet:178040 https://www.orpha.net/en/disease/detail/178040 NANDO:2200321 http://nanbyodata.jp/ontology/NANDO_2200321 MONDO:0015892 http://purl.obolibrary.org/obo/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 Orphanet:181393 https://www.orpha.net/en/disease/detail/181393 NANDO:2200355 http://nanbyodata.jp/ontology/NANDO_2200355 MONDO:0016042 http://purl.obolibrary.org/obo/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 Orphanet:199299 https://www.orpha.net/en/disease/detail/199299 NANDO:2200387 http://nanbyodata.jp/ontology/NANDO_2200387 MONDO:0016281 http://purl.obolibrary.org/obo/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 Orphanet:2138 https://www.orpha.net/en/disease/detail/2138 NANDO:2200326 http://nanbyodata.jp/ontology/NANDO_2200326 MONDO:0016383 http://purl.obolibrary.org/obo/MONDO_0016383 http://www.w3.org/2004/02/skos/core#exactMatch 先天性腎性尿崩症 nephrogenic diabetes insipidus Orphanet:223 https://www.orpha.net/en/disease/detail/223 NANDO:2200332 http://nanbyodata.jp/ontology/NANDO_2200332 MONDO:0016410 http://purl.obolibrary.org/obo/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 Orphanet:226298 https://www.orpha.net/en/disease/detail/226298 NANDO:2200370 http://nanbyodata.jp/ontology/NANDO_2200370 MONDO:0018479 http://purl.obolibrary.org/obo/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 Orphanet:418 https://www.orpha.net/en/disease/detail/418 NANDO:2200382 http://nanbyodata.jp/ontology/NANDO_2200382 MONDO:0018555 http://purl.obolibrary.org/obo/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 Orphanet:432 https://www.orpha.net/en/disease/detail/432 NANDO:2200333 http://nanbyodata.jp/ontology/NANDO_2200333 MONDO:0018612 http://purl.obolibrary.org/obo/MONDO_0018612 http://www.w3.org/2004/02/skos/core#exactMatch 先天性甲状腺機能低下症 congenital hypothyroidism Orphanet:442 https://www.orpha.net/en/disease/detail/442 NANDO:2200325 http://nanbyodata.jp/ontology/NANDO_2200325 MONDO:0018620 http://purl.obolibrary.org/obo/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 Orphanet:443101 https://www.orpha.net/en/disease/detail/443101 NANDO:2200367 http://nanbyodata.jp/ontology/NANDO_2200367 MONDO:0018638 http://purl.obolibrary.org/obo/MONDO_0018638 http://www.w3.org/2004/02/skos/core#exactMatch 偽性低アルドステロン症 pseudohypoaldosteronism Orphanet:444916 https://www.orpha.net/en/disease/detail/444916 NANDO:2200312 http://nanbyodata.jp/ontology/NANDO_2200312 MONDO:0018762 http://purl.obolibrary.org/obo/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 Orphanet:467 https://www.orpha.net/en/disease/detail/467 NANDO:2200381 http://nanbyodata.jp/ontology/NANDO_2200381 MONDO:0018800 http://purl.obolibrary.org/obo/MONDO_0018800 http://www.w3.org/2004/02/skos/core#exactMatch カルマン症候群 Kallmann syndrome Orphanet:478 https://www.orpha.net/en/disease/detail/478 NANDO:2200368 http://nanbyodata.jp/ontology/NANDO_2200368 MONDO:0019161 http://purl.obolibrary.org/obo/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 Orphanet:756 https://www.orpha.net/en/disease/detail/756 NANDO:2200369 http://nanbyodata.jp/ontology/NANDO_2200369 MONDO:0019162 http://purl.obolibrary.org/obo/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 Orphanet:757 https://www.orpha.net/en/disease/detail/757 NANDO:2200377 http://nanbyodata.jp/ontology/NANDO_2200377 MONDO:0019165 http://purl.obolibrary.org/obo/MONDO_0019165 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性思春期早発症 central precocious puberty Orphanet:650063 https://www.orpha.net/en/disease/detail/650063 NANDO:2200313 http://nanbyodata.jp/ontology/NANDO_2200313 MONDO:0019832 http://purl.obolibrary.org/obo/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 Orphanet:95502 https://www.orpha.net/en/disease/detail/95502 NANDO:2200330 http://nanbyodata.jp/ontology/NANDO_2200330 MONDO:0019854 http://purl.obolibrary.org/obo/MONDO_0019854 http://www.w3.org/2004/02/skos/core#exactMatch 異所性甲状腺 thyroid ectopia Orphanet:95712 https://www.orpha.net/en/disease/detail/95712 NANDO:2200331 http://nanbyodata.jp/ontology/NANDO_2200331 MONDO:0019855 http://purl.obolibrary.org/obo/MONDO_0019855 http://www.w3.org/2004/02/skos/core#exactMatch 無甲状腺症 athyreosis Orphanet:95713 https://www.orpha.net/en/disease/detail/95713 NANDO:2200315 http://nanbyodata.jp/ontology/NANDO_2200315 MONDO:0019933 http://purl.obolibrary.org/obo/MONDO_0019933 http://www.w3.org/2004/02/skos/core#exactMatch 先端巨大症 acromegaly Orphanet:963 https://www.orpha.net/en/disease/detail/963 NANDO:2200349 http://nanbyodata.jp/ontology/NANDO_2200349 MONDO:0019992 http://purl.obolibrary.org/obo/MONDO_0019992 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症 pseudohypoparathyroidism Orphanet:97593 https://www.orpha.net/en/disease/detail/97593 NANDO:2200308 http://nanbyodata.jp/ontology/NANDO_2200308 MONDO:0020400 http://purl.obolibrary.org/obo/MONDO_0020400 http://www.w3.org/2004/02/skos/core#exactMatch 僧帽弁弁上輪 congenital supravalvular mitral ring Orphanet:99059 https://www.orpha.net/en/disease/detail/99059 NANDO:2200314 http://nanbyodata.jp/ontology/NANDO_2200314 MONDO:0020479 http://purl.obolibrary.org/obo/MONDO_0020479 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体性巨人症 pituitary gigantism Orphanet:99725 https://www.orpha.net/en/disease/detail/99725 NANDO:2200406 http://nanbyodata.jp/ontology/NANDO_2200406 MONDO:0008234 http://purl.obolibrary.org/obo/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 Orphanet:247698 https://www.orpha.net/en/disease/detail/247698 NANDO:2200436 http://nanbyodata.jp/ontology/NANDO_2200436 MONDO:0009849 http://purl.obolibrary.org/obo/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 Orphanet:343 https://www.orpha.net/en/disease/detail/343 NANDO:2200451 http://nanbyodata.jp/ontology/NANDO_2200451 MONDO:0013944 http://purl.obolibrary.org/obo/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 Orphanet:324530 https://www.orpha.net/en/disease/detail/324530 NANDO:2200450 http://nanbyodata.jp/ontology/NANDO_2200450 MONDO:0014306 http://purl.obolibrary.org/obo/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 Orphanet:404553 https://www.orpha.net/en/disease/detail/404553 NANDO:2200388 http://nanbyodata.jp/ontology/NANDO_2200388 MONDO:0015779 http://purl.obolibrary.org/obo/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 Orphanet:1772 https://www.orpha.net/en/disease/detail/1772 NANDO:2200399 http://nanbyodata.jp/ontology/NANDO_2200399 MONDO:0017182 http://purl.obolibrary.org/obo/MONDO_0017182 http://www.w3.org/2004/02/skos/core#closeMatch 家族性高インスリン血症 familial hyperinsulinism Orphanet:276525 https://www.orpha.net/en/disease/detail/276525 NANDO:2200449 http://nanbyodata.jp/ontology/NANDO_2200449 MONDO:0018768 http://purl.obolibrary.org/obo/MONDO_0018768 http://www.w3.org/2004/02/skos/core#closeMatch 家族性寒冷蕁麻疹 familial cold autoinflammatory syndrome Orphanet:47045 https://www.orpha.net/en/disease/detail/47045 NANDO:2200465 http://nanbyodata.jp/ontology/NANDO_2200465 MONDO:0018883 http://purl.obolibrary.org/obo/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 Orphanet:528 https://www.orpha.net/en/disease/detail/528 NANDO:2200429 http://nanbyodata.jp/ontology/NANDO_2200429 MONDO:0005100 http://purl.obolibrary.org/obo/MONDO_0005100 http://www.w3.org/2004/02/skos/core#exactMatch 全身性硬化症 systemic sclerosis Orphanet:90291 https://www.orpha.net/en/disease/detail/90291 NANDO:2200399 http://nanbyodata.jp/ontology/NANDO_2200399 MONDO:0005803 http://purl.obolibrary.org/obo/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 Orphanet:443095 https://www.orpha.net/en/disease/detail/443095 NANDO:2200430 http://nanbyodata.jp/ontology/NANDO_2200430 MONDO:0005854 http://purl.obolibrary.org/obo/MONDO_0005854 http://www.w3.org/2004/02/skos/core#exactMatch 混合性結合組織病 mixed connective tissue disease Orphanet:809 https://www.orpha.net/en/disease/detail/809 NANDO:2200422 http://nanbyodata.jp/ontology/NANDO_2200422 MONDO:0007191 http://purl.obolibrary.org/obo/MONDO_0007191 http://www.w3.org/2004/02/skos/core#exactMatch ベーチェット病 Behcet disease Orphanet:117 https://www.orpha.net/en/disease/detail/117 NANDO:2200444 http://nanbyodata.jp/ontology/NANDO_2200444 MONDO:0007315 http://purl.obolibrary.org/obo/MONDO_0007315 http://www.w3.org/2004/02/skos/core#exactMatch ケルビム症 cherubism Orphanet:184 https://www.orpha.net/en/disease/detail/184 NANDO:2200405 http://nanbyodata.jp/ontology/NANDO_2200405 MONDO:0007540 http://purl.obolibrary.org/obo/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 Orphanet:652 https://www.orpha.net/en/disease/detail/652 NANDO:2200433 http://nanbyodata.jp/ontology/NANDO_2200433 MONDO:0007727 http://purl.obolibrary.org/obo/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 Orphanet:32960 https://www.orpha.net/en/disease/detail/32960 NANDO:2200416 http://nanbyodata.jp/ontology/NANDO_2200416 MONDO:0007915 http://purl.obolibrary.org/obo/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 Orphanet:536 https://www.orpha.net/en/disease/detail/536 NANDO:2200418 http://nanbyodata.jp/ontology/NANDO_2200418 MONDO:0008054 http://purl.obolibrary.org/obo/MONDO_0008054 http://www.w3.org/2004/02/skos/core#exactMatch 若年性皮膚筋炎 juvenile dermatomyositis Orphanet:93672 https://www.orpha.net/en/disease/detail/93672 NANDO:2200411 http://nanbyodata.jp/ontology/NANDO_2200411 MONDO:0008300 http://purl.obolibrary.org/obo/MONDO_0008300 http://www.w3.org/2004/02/skos/core#exactMatch プラダー・ウィリ症候群 Prader-Willi syndrome Orphanet:739 https://www.orpha.net/en/disease/detail/739 NANDO:2200434 http://nanbyodata.jp/ontology/NANDO_2200434 MONDO:0008523 http://purl.obolibrary.org/obo/MONDO_0008523 http://www.w3.org/2004/02/skos/core#exactMatch ブラウ症候群 Blau syndrome Orphanet:90340 https://www.orpha.net/en/disease/detail/90340 NANDO:2200435 http://nanbyodata.jp/ontology/NANDO_2200435 MONDO:0009726 http://purl.obolibrary.org/obo/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 Orphanet:324977 https://www.orpha.net/en/disease/detail/324977 NANDO:2200438 http://nanbyodata.jp/ontology/NANDO_2200438 MONDO:0009813 http://purl.obolibrary.org/obo/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 Orphanet:324964 https://www.orpha.net/en/disease/detail/324964 NANDO:2200390 http://nanbyodata.jp/ontology/NANDO_2200390 MONDO:0009916 http://purl.obolibrary.org/obo/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 Orphanet:752 https://www.orpha.net/en/disease/detail/752 NANDO:2200389 http://nanbyodata.jp/ontology/NANDO_2200389 MONDO:0009923 http://purl.obolibrary.org/obo/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 Orphanet:753 https://www.orpha.net/en/disease/detail/753 NANDO:2200420 http://nanbyodata.jp/ontology/NANDO_2200420 MONDO:0010030 http://purl.obolibrary.org/obo/MONDO_0010030 http://www.w3.org/2004/02/skos/core#exactMatch シェーグレン症候群 Sjogren syndrome Orphanet:289390 https://www.orpha.net/en/disease/detail/289390 NANDO:2200457 http://nanbyodata.jp/ontology/NANDO_2200457 MONDO:0011273 http://purl.obolibrary.org/obo/MONDO_0011273 http://www.w3.org/2004/02/skos/core#exactMatch H症候群 H syndrome Orphanet:168569 https://www.orpha.net/en/disease/detail/168569 NANDO:2200415 http://nanbyodata.jp/ontology/NANDO_2200415 MONDO:0011429 http://purl.obolibrary.org/obo/MONDO_0011429 http://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎 juvenile idiopathic arthritis Orphanet:92 https://www.orpha.net/en/disease/detail/92 NANDO:2200437 http://nanbyodata.jp/ontology/NANDO_2200437 MONDO:0011462 http://purl.obolibrary.org/obo/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 Orphanet:69126 https://www.orpha.net/en/disease/detail/69126 NANDO:2200424 http://nanbyodata.jp/ontology/NANDO_2200424 MONDO:0012105 http://purl.obolibrary.org/obo/MONDO_0012105 http://www.w3.org/2004/02/skos/core#exactMatch 多発血管炎性肉芽腫症 granulomatosis with polyangiitis Orphanet:900 https://www.orpha.net/en/disease/detail/900 NANDO:2200453 http://nanbyodata.jp/ontology/NANDO_2200453 MONDO:0012316 http://purl.obolibrary.org/obo/MONDO_0012316 http://www.w3.org/2004/02/skos/core#exactMatch Majeed症候群 Majeed syndrome Orphanet:77297 https://www.orpha.net/en/disease/detail/77297 NANDO:2200449 http://nanbyodata.jp/ontology/NANDO_2200449 MONDO:0012724 http://purl.obolibrary.org/obo/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 Orphanet:247868 https://www.orpha.net/en/disease/detail/247868 NANDO:2200439 http://nanbyodata.jp/ontology/NANDO_2200439 MONDO:0013021 http://purl.obolibrary.org/obo/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 Orphanet:210115 https://www.orpha.net/en/disease/detail/210115 NANDO:2200452 http://nanbyodata.jp/ontology/NANDO_2200452 MONDO:0013626 http://purl.obolibrary.org/obo/MONDO_0013626 http://www.w3.org/2004/02/skos/core#exactMatch 乾癬14, 膿疱性 psoriasis 14, pustular Orphanet:163931 https://www.orpha.net/en/disease/detail/163931 NANDO:2200452 http://nanbyodata.jp/ontology/NANDO_2200452 MONDO:0013626 http://purl.obolibrary.org/obo/MONDO_0013626 http://www.w3.org/2004/02/skos/core#exactMatch 乾癬14, 膿疱性 psoriasis 14, pustular Orphanet:404546 https://www.orpha.net/en/disease/detail/404546 NANDO:2200455 http://nanbyodata.jp/ontology/NANDO_2200455 MONDO:0013766 http://purl.obolibrary.org/obo/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 Orphanet:300359 https://www.orpha.net/en/disease/detail/300359 NANDO:2200442 http://nanbyodata.jp/ontology/NANDO_2200442 MONDO:0013944 http://purl.obolibrary.org/obo/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 Orphanet:324530 https://www.orpha.net/en/disease/detail/324530 NANDO:2200441 http://nanbyodata.jp/ontology/NANDO_2200441 MONDO:0014306 http://purl.obolibrary.org/obo/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 Orphanet:404553 https://www.orpha.net/en/disease/detail/404553 NANDO:2200414 http://nanbyodata.jp/ontology/NANDO_2200414 MONDO:0015229 http://purl.obolibrary.org/obo/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 Orphanet:110 https://www.orpha.net/en/disease/detail/110 NANDO:2200427 http://nanbyodata.jp/ontology/NANDO_2200427 MONDO:0015943 http://purl.obolibrary.org/obo/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 Orphanet:183 https://www.orpha.net/en/disease/detail/183 NANDO:2200432 http://nanbyodata.jp/ontology/NANDO_2200432 MONDO:0016168 http://purl.obolibrary.org/obo/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 Orphanet:208650 https://www.orpha.net/en/disease/detail/208650 NANDO:2200446 http://nanbyodata.jp/ontology/NANDO_2200446 MONDO:0016542 http://purl.obolibrary.org/obo/MONDO_0016542 http://www.w3.org/2004/02/skos/core#exactMatch IL10欠損症 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Orphanet:238569 https://www.orpha.net/en/disease/detail/238569 NANDO:2200436 http://nanbyodata.jp/ontology/NANDO_2200436 MONDO:0017708 http://purl.obolibrary.org/obo/MONDO_0017708 http://www.w3.org/2004/02/skos/core#exactMatch 高IgD症候群 mevalonate kinase deficiency Orphanet:309025 https://www.orpha.net/en/disease/detail/309025 NANDO:2200423 http://nanbyodata.jp/ontology/NANDO_2200423 MONDO:0017991 http://purl.obolibrary.org/obo/MONDO_0017991 http://www.w3.org/2004/02/skos/core#exactMatch 高安動脈炎 Takayasu arteritis Orphanet:3287 https://www.orpha.net/en/disease/detail/3287 NANDO:2200423 http://nanbyodata.jp/ontology/NANDO_2200423 MONDO:0017991 http://purl.obolibrary.org/obo/MONDO_0017991 http://www.w3.org/2004/02/skos/core#exactMatch 高安動脈炎 Takayasu arteritis Orphanet:99079 https://www.orpha.net/en/disease/detail/99079 NANDO:2200431 http://nanbyodata.jp/ontology/NANDO_2200431 MONDO:0018088 http://purl.obolibrary.org/obo/MONDO_0018088 http://www.w3.org/2004/02/skos/core#exactMatch 家族性地中海熱 familial Mediterranean fever Orphanet:342 https://www.orpha.net/en/disease/detail/342 NANDO:2200412 http://nanbyodata.jp/ontology/NANDO_2200412 MONDO:0018919 http://purl.obolibrary.org/obo/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 Orphanet:562 https://www.orpha.net/en/disease/detail/562 NANDO:2200413 http://nanbyodata.jp/ontology/NANDO_2200413 MONDO:0018997 http://purl.obolibrary.org/obo/MONDO_0018997 http://www.w3.org/2004/02/skos/core#exactMatch ヌーナン症候群 Noonan syndrome Orphanet:648 https://www.orpha.net/en/disease/detail/648 NANDO:2200406 http://nanbyodata.jp/ontology/NANDO_2200406 MONDO:0019003 http://purl.obolibrary.org/obo/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 Orphanet:653 https://www.orpha.net/en/disease/detail/653 NANDO:2200426 http://nanbyodata.jp/ontology/NANDO_2200426 MONDO:0019124 http://purl.obolibrary.org/obo/MONDO_0019124 http://www.w3.org/2004/02/skos/core#exactMatch 顕微鏡的多発血管炎 microscopic polyangiitis Orphanet:727 https://www.orpha.net/en/disease/detail/727 NANDO:2200428 http://nanbyodata.jp/ontology/NANDO_2200428 MONDO:0019125 http://purl.obolibrary.org/obo/MONDO_0019125 http://www.w3.org/2004/02/skos/core#exactMatch 再発性多発軟骨炎 relapsing polychondritis Orphanet:728 https://www.orpha.net/en/disease/detail/728 NANDO:2200391 http://nanbyodata.jp/ontology/NANDO_2200391 MONDO:0019154 http://purl.obolibrary.org/obo/MONDO_0019154 http://www.w3.org/2004/02/skos/core#exactMatch アンドロゲン不応症 androgen insensitivity syndrome Orphanet:754 https://www.orpha.net/en/disease/detail/754 NANDO:2200425 http://nanbyodata.jp/ontology/NANDO_2200425 MONDO:0019170 http://purl.obolibrary.org/obo/MONDO_0019170 http://www.w3.org/2004/02/skos/core#exactMatch 結節性多発動脈炎 polyarteritis nodosa Orphanet:767 https://www.orpha.net/en/disease/detail/767 NANDO:2200410 http://nanbyodata.jp/ontology/NANDO_2200410 MONDO:0019499 http://purl.obolibrary.org/obo/MONDO_0019499 http://www.w3.org/2004/02/skos/core#exactMatch ターナー症候群 Turner syndrome Orphanet:881 https://www.orpha.net/en/disease/detail/881 NANDO:2200419 http://nanbyodata.jp/ontology/NANDO_2200419 MONDO:0019734 http://purl.obolibrary.org/obo/MONDO_0019734 http://www.w3.org/2004/02/skos/core#exactMatch 若年性多発性筋炎 juvenile polymyositis Orphanet:93568 https://www.orpha.net/en/disease/detail/93568 NANDO:2200397 http://nanbyodata.jp/ontology/NANDO_2200397 MONDO:0019959 http://purl.obolibrary.org/obo/MONDO_0019959 http://www.w3.org/2004/02/skos/core#exactMatch グルカゴノーマ glucagonoma Orphanet:97280 https://www.orpha.net/en/disease/detail/97280 NANDO:2200394 http://nanbyodata.jp/ontology/NANDO_2200394 MONDO:0019960 http://purl.obolibrary.org/obo/MONDO_0019960 http://www.w3.org/2004/02/skos/core#exactMatch VIP産生腫瘍 VIPoma Orphanet:97282 https://www.orpha.net/en/disease/detail/97282 NANDO:2200393 http://nanbyodata.jp/ontology/NANDO_2200393 MONDO:0020040 http://purl.obolibrary.org/obo/MONDO_0020040 http://www.w3.org/2004/02/skos/core#exactMatch 46,XX性分化疾患 46,XY disorder of sex development Orphanet:98085 https://www.orpha.net/en/disease/detail/98085 NANDO:2200467 http://nanbyodata.jp/ontology/NANDO_2200467 MONDO:0009861 http://purl.obolibrary.org/obo/MONDO_0009861 http://www.w3.org/2004/02/skos/core#exactMatch フェニルケトン尿症 phenylketonuria Orphanet:716 https://www.orpha.net/en/disease/detail/716 NANDO:2200468 http://nanbyodata.jp/ontology/NANDO_2200468 MONDO:0010161 http://purl.obolibrary.org/obo/MONDO_0010161 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症I型 tyrosinemia type I Orphanet:882 https://www.orpha.net/en/disease/detail/882 NANDO:2200459 http://nanbyodata.jp/ontology/NANDO_2200459 MONDO:0014472 http://purl.obolibrary.org/obo/MONDO_0014472 http://www.w3.org/2004/02/skos/core#exactMatch NLRC4異常症 periodic fever-infantile enterocolitis-autoinflammatory syndrome Orphanet:436166 https://www.orpha.net/en/disease/detail/436166 NANDO:2200463 http://nanbyodata.jp/ontology/NANDO_2200463 MONDO:0016391 http://purl.obolibrary.org/obo/MONDO_0016391 http://www.w3.org/2004/02/skos/core#exactMatch 新生児糖尿病 neonatal diabetes mellitus Orphanet:224 https://www.orpha.net/en/disease/detail/224 NANDO:2200462 http://nanbyodata.jp/ontology/NANDO_2200462 MONDO:0018911 http://purl.obolibrary.org/obo/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 Orphanet:552 https://www.orpha.net/en/disease/detail/552 NANDO:2200537 http://nanbyodata.jp/ontology/NANDO_2200537 MONDO:0009414 http://purl.obolibrary.org/obo/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 Orphanet:2089 https://www.orpha.net/en/disease/detail/2089 NANDO:2200486 http://nanbyodata.jp/ontology/NANDO_2200486 MONDO:0009796 http://purl.obolibrary.org/obo/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 Orphanet:414 https://www.orpha.net/en/disease/detail/414 NANDO:2200484 http://nanbyodata.jp/ontology/NANDO_2200484 MONDO:0009796 http://purl.obolibrary.org/obo/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 Orphanet:414 https://www.orpha.net/en/disease/detail/414 NANDO:2200510 http://nanbyodata.jp/ontology/NANDO_2200510 MONDO:0015515 http://purl.obolibrary.org/obo/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 Orphanet:157 https://www.orpha.net/en/disease/detail/157 NANDO:2200528 http://nanbyodata.jp/ontology/NANDO_2200528 MONDO:0018158 http://purl.obolibrary.org/obo/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 Orphanet:35698 https://www.orpha.net/en/disease/detail/35698 NANDO:2200547 http://nanbyodata.jp/ontology/NANDO_2200547 MONDO:0001586 http://purl.obolibrary.org/obo/MONDO_0001586 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症1型 mucopolysaccharidosis type 1 Orphanet:579 https://www.orpha.net/en/disease/detail/579 NANDO:2200538 http://nanbyodata.jp/ontology/NANDO_2200538 MONDO:0002413 http://purl.obolibrary.org/obo/MONDO_0002413 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病I型 glycogen storage disease I Orphanet:364 https://www.orpha.net/en/disease/detail/364 NANDO:2200503 http://nanbyodata.jp/ontology/NANDO_2200503 MONDO:0002474 http://purl.obolibrary.org/obo/MONDO_0002474 http://www.w3.org/2004/02/skos/core#exactMatch 原発性高シュウ酸尿症 primary hyperoxaluria Orphanet:416 https://www.orpha.net/en/disease/detail/416 NANDO:2200472 http://nanbyodata.jp/ontology/NANDO_2200472 MONDO:0008221 http://purl.obolibrary.org/obo/MONDO_0008221 http://www.w3.org/2004/02/skos/core#exactMatch プロリダーゼ欠損症 prolidase deficiency Orphanet:742 https://www.orpha.net/en/disease/detail/742 NANDO:2200513 http://nanbyodata.jp/ontology/NANDO_2200513 MONDO:0008721 http://purl.obolibrary.org/obo/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 Orphanet:42 https://www.orpha.net/en/disease/detail/42 NANDO:2200514 http://nanbyodata.jp/ontology/NANDO_2200514 MONDO:0008722 http://purl.obolibrary.org/obo/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 Orphanet:26792 https://www.orpha.net/en/disease/detail/26792 NANDO:2200512 http://nanbyodata.jp/ontology/NANDO_2200512 MONDO:0008723 http://purl.obolibrary.org/obo/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 Orphanet:26793 https://www.orpha.net/en/disease/detail/26793 NANDO:2200504 http://nanbyodata.jp/ontology/NANDO_2200504 MONDO:0008753 http://purl.obolibrary.org/obo/MONDO_0008753 http://www.w3.org/2004/02/skos/core#exactMatch アルカプトン尿症 alkaptonuria Orphanet:56 https://www.orpha.net/en/disease/detail/56 NANDO:2200493 http://nanbyodata.jp/ontology/NANDO_2200493 MONDO:0008760 http://purl.obolibrary.org/obo/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 Orphanet:134 https://www.orpha.net/en/disease/detail/134 NANDO:2200482 http://nanbyodata.jp/ontology/NANDO_2200482 MONDO:0008814 http://purl.obolibrary.org/obo/MONDO_0008814 http://www.w3.org/2004/02/skos/core#exactMatch 高アルギニン血症 hyperargininemia Orphanet:90 https://www.orpha.net/en/disease/detail/90 NANDO:2200481 http://nanbyodata.jp/ontology/NANDO_2200481 MONDO:0008815 http://purl.obolibrary.org/obo/MONDO_0008815 http://www.w3.org/2004/02/skos/core#exactMatch アルギニノコハク酸尿症 argininosuccinic aciduria Orphanet:23 https://www.orpha.net/en/disease/detail/23 NANDO:2200511 http://nanbyodata.jp/ontology/NANDO_2200511 MONDO:0008918 http://purl.obolibrary.org/obo/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 Orphanet:159 https://www.orpha.net/en/disease/detail/159 NANDO:2200508 http://nanbyodata.jp/ontology/NANDO_2200508 MONDO:0008919 http://purl.obolibrary.org/obo/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 Orphanet:158 https://www.orpha.net/en/disease/detail/158 NANDO:2200480 http://nanbyodata.jp/ontology/NANDO_2200480 MONDO:0008988 http://purl.obolibrary.org/obo/MONDO_0008988 http://www.w3.org/2004/02/skos/core#exactMatch シトルリン血症I型 citrullinemia type I Orphanet:247525 https://www.orpha.net/en/disease/detail/247525 NANDO:2200489 http://nanbyodata.jp/ontology/NANDO_2200489 MONDO:0009067 http://purl.obolibrary.org/obo/MONDO_0009067 http://www.w3.org/2004/02/skos/core#exactMatch シスチン尿症 cystinuria Orphanet:214 https://www.orpha.net/en/disease/detail/214 NANDO:2200488 http://nanbyodata.jp/ontology/NANDO_2200488 MONDO:0009109 http://purl.obolibrary.org/obo/MONDO_0009109 http://www.w3.org/2004/02/skos/core#exactMatch リジン尿性蛋白不耐症 lysinuric protein intolerance Orphanet:470 https://www.orpha.net/en/disease/detail/470 NANDO:2200531 http://nanbyodata.jp/ontology/NANDO_2200531 MONDO:0009249 http://purl.obolibrary.org/obo/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 Orphanet:469 https://www.orpha.net/en/disease/detail/469 NANDO:2200535 http://nanbyodata.jp/ontology/NANDO_2200535 MONDO:0009251 http://purl.obolibrary.org/obo/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 Orphanet:348 https://www.orpha.net/en/disease/detail/348 NANDO:2200533 http://nanbyodata.jp/ontology/NANDO_2200533 MONDO:0009255 http://purl.obolibrary.org/obo/MONDO_0009255 http://www.w3.org/2004/02/skos/core#exactMatch ガラクトキナーゼ欠損症 galactokinase deficiency Orphanet:79237 https://www.orpha.net/en/disease/detail/79237 NANDO:2200534 http://nanbyodata.jp/ontology/NANDO_2200534 MONDO:0009257 http://purl.obolibrary.org/obo/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 Orphanet:79238 https://www.orpha.net/en/disease/detail/79238 NANDO:2200532 http://nanbyodata.jp/ontology/NANDO_2200532 MONDO:0009258 http://purl.obolibrary.org/obo/MONDO_0009258 http://www.w3.org/2004/02/skos/core#exactMatch 古典型ガラクトース血症 classic galactosemia Orphanet:79239 https://www.orpha.net/en/disease/detail/79239 NANDO:2200501 http://nanbyodata.jp/ontology/NANDO_2200501 MONDO:0009281 http://purl.obolibrary.org/obo/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 Orphanet:25 https://www.orpha.net/en/disease/detail/25 NANDO:2200502 http://nanbyodata.jp/ontology/NANDO_2200502 MONDO:0009282 http://purl.obolibrary.org/obo/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 Orphanet:26791 https://www.orpha.net/en/disease/detail/26791 NANDO:2200539 http://nanbyodata.jp/ontology/NANDO_2200539 MONDO:0009291 http://purl.obolibrary.org/obo/MONDO_0009291 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病III glycogen storage disease III Orphanet:366 https://www.orpha.net/en/disease/detail/366 NANDO:2200540 http://nanbyodata.jp/ontology/NANDO_2200540 MONDO:0009292 http://purl.obolibrary.org/obo/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 Orphanet:367 https://www.orpha.net/en/disease/detail/367 NANDO:2200541 http://nanbyodata.jp/ontology/NANDO_2200541 MONDO:0009293 http://purl.obolibrary.org/obo/MONDO_0009293 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病V glycogen storage disease V Orphanet:368 https://www.orpha.net/en/disease/detail/368 NANDO:2200542 http://nanbyodata.jp/ontology/NANDO_2200542 MONDO:0009294 http://purl.obolibrary.org/obo/MONDO_0009294 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VI glycogen storage disease VI Orphanet:369 https://www.orpha.net/en/disease/detail/369 NANDO:2200543 http://nanbyodata.jp/ontology/NANDO_2200543 MONDO:0009295 http://purl.obolibrary.org/obo/MONDO_0009295 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VII glycogen storage disease VII Orphanet:371 https://www.orpha.net/en/disease/detail/371 NANDO:2200487 http://nanbyodata.jp/ontology/NANDO_2200487 MONDO:0009324 http://purl.obolibrary.org/obo/MONDO_0009324 http://www.w3.org/2004/02/skos/core#exactMatch ハートナップ病 Hartnup disease Orphanet:2116 https://www.orpha.net/en/disease/detail/2116 NANDO:2200478 http://nanbyodata.jp/ontology/NANDO_2200478 MONDO:0009376 http://purl.obolibrary.org/obo/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 Orphanet:147 https://www.orpha.net/en/disease/detail/147 NANDO:2200477 http://nanbyodata.jp/ontology/NANDO_2200477 MONDO:0009377 http://purl.obolibrary.org/obo/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 Orphanet:927 https://www.orpha.net/en/disease/detail/927 NANDO:2200485 http://nanbyodata.jp/ontology/NANDO_2200485 MONDO:0009393 http://purl.obolibrary.org/obo/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 Orphanet:415 https://www.orpha.net/en/disease/detail/415 NANDO:2200494 http://nanbyodata.jp/ontology/NANDO_2200494 MONDO:0009475 http://purl.obolibrary.org/obo/MONDO_0009475 http://www.w3.org/2004/02/skos/core#exactMatch イソ吉草酸血症 isovaleric acidemia Orphanet:33 https://www.orpha.net/en/disease/detail/33 NANDO:2200499 http://nanbyodata.jp/ontology/NANDO_2200499 MONDO:0009492 http://purl.obolibrary.org/obo/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 Orphanet:832 https://www.orpha.net/en/disease/detail/832 NANDO:2200497 http://nanbyodata.jp/ontology/NANDO_2200497 MONDO:0009520 http://purl.obolibrary.org/obo/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 Orphanet:20 https://www.orpha.net/en/disease/detail/20 NANDO:2200473 http://nanbyodata.jp/ontology/NANDO_2200473 MONDO:0009563 http://purl.obolibrary.org/obo/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 Orphanet:511 https://www.orpha.net/en/disease/detail/511 NANDO:2200509 http://nanbyodata.jp/ontology/NANDO_2200509 MONDO:0009705 http://purl.obolibrary.org/obo/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 Orphanet:156 https://www.orpha.net/en/disease/detail/156 NANDO:2200527 http://nanbyodata.jp/ontology/NANDO_2200527 MONDO:0009723 http://purl.obolibrary.org/obo/MONDO_0009723 http://www.w3.org/2004/02/skos/core#exactMatch リー症候群 Leigh syndrome Orphanet:506 https://www.orpha.net/en/disease/detail/506 NANDO:2200519 http://nanbyodata.jp/ontology/NANDO_2200519 MONDO:0009949 http://purl.obolibrary.org/obo/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 Orphanet:3008 https://www.orpha.net/en/disease/detail/3008 NANDO:2200469 http://nanbyodata.jp/ontology/NANDO_2200469 MONDO:0010160 http://purl.obolibrary.org/obo/MONDO_0010160 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症II型 tyrosinemia type II Orphanet:28378 https://www.orpha.net/en/disease/detail/28378 NANDO:2200470 http://nanbyodata.jp/ontology/NANDO_2200470 MONDO:0010162 http://purl.obolibrary.org/obo/MONDO_0010162 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症III型 tyrosinemia type III Orphanet:69723 https://www.orpha.net/en/disease/detail/69723 NANDO:2200505 http://nanbyodata.jp/ontology/NANDO_2200505 MONDO:0010613 http://purl.obolibrary.org/obo/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 Orphanet:308993 https://www.orpha.net/en/disease/detail/308993 NANDO:2200479 http://nanbyodata.jp/ontology/NANDO_2200479 MONDO:0010703 http://purl.obolibrary.org/obo/MONDO_0010703 http://www.w3.org/2004/02/skos/core#exactMatch OTC欠損症 ornithine carbamoyltransferase deficiency Orphanet:664 https://www.orpha.net/en/disease/detail/664 NANDO:2200529 http://nanbyodata.jp/ontology/NANDO_2200529 MONDO:0010787 http://purl.obolibrary.org/obo/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 Orphanet:480 https://www.orpha.net/en/disease/detail/480 NANDO:2200525 http://nanbyodata.jp/ontology/NANDO_2200525 MONDO:0010789 http://purl.obolibrary.org/obo/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 Orphanet:550 https://www.orpha.net/en/disease/detail/550 NANDO:2200526 http://nanbyodata.jp/ontology/NANDO_2200526 MONDO:0010790 http://purl.obolibrary.org/obo/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 Orphanet:551 https://www.orpha.net/en/disease/detail/551 NANDO:2200476 http://nanbyodata.jp/ontology/NANDO_2200476 MONDO:0011612 http://purl.obolibrary.org/obo/MONDO_0011612 http://www.w3.org/2004/02/skos/core#exactMatch グリシン脳症 glycine encephalopathy Orphanet:407 https://www.orpha.net/en/disease/detail/407 NANDO:2200498 http://nanbyodata.jp/ontology/NANDO_2200498 MONDO:0011614 http://purl.obolibrary.org/obo/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 Orphanet:35701 https://www.orpha.net/en/disease/detail/35701 NANDO:2200492 http://nanbyodata.jp/ontology/NANDO_2200492 MONDO:0011628 http://purl.obolibrary.org/obo/MONDO_0011628 http://www.w3.org/2004/02/skos/core#exactMatch プロピオン酸血症 propionic acidemia Orphanet:35 https://www.orpha.net/en/disease/detail/35 NANDO:2200545 http://nanbyodata.jp/ontology/NANDO_2200545 MONDO:0011724 http://purl.obolibrary.org/obo/MONDO_0011724 http://www.w3.org/2004/02/skos/core#exactMatch GLUT1欠損による脳症 encephalopathy due to GLUT1 deficiency Orphanet:71277 https://www.orpha.net/en/disease/detail/71277 NANDO:2200520 http://nanbyodata.jp/ontology/NANDO_2200520 MONDO:0011730 http://purl.obolibrary.org/obo/MONDO_0011730 http://www.w3.org/2004/02/skos/core#exactMatch フマラーゼ欠損症 fumaric aciduria Orphanet:24 https://www.orpha.net/en/disease/detail/24 NANDO:2200515 http://nanbyodata.jp/ontology/NANDO_2200515 MONDO:0012172 http://purl.obolibrary.org/obo/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 Orphanet:746 https://www.orpha.net/en/disease/detail/746 NANDO:2200500 http://nanbyodata.jp/ontology/NANDO_2200500 MONDO:0015454 http://purl.obolibrary.org/obo/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 Orphanet:148 https://www.orpha.net/en/disease/detail/148 NANDO:2200483 http://nanbyodata.jp/ontology/NANDO_2200483 MONDO:0016602 http://purl.obolibrary.org/obo/MONDO_0016602 http://www.w3.org/2004/02/skos/core#exactMatch シトリン欠損症 citrin deficiency Orphanet:247582 https://www.orpha.net/en/disease/detail/247582 NANDO:2200536 http://nanbyodata.jp/ontology/NANDO_2200536 MONDO:0017320 http://purl.obolibrary.org/obo/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 Orphanet:2880 https://www.orpha.net/en/disease/detail/2880 NANDO:2200496 http://nanbyodata.jp/ontology/NANDO_2200496 MONDO:0017359 http://purl.obolibrary.org/obo/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 Orphanet:289902 https://www.orpha.net/en/disease/detail/289902 NANDO:2200523 http://nanbyodata.jp/ontology/NANDO_2200523 MONDO:0018158 http://purl.obolibrary.org/obo/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 Orphanet:35698 https://www.orpha.net/en/disease/detail/35698 NANDO:2200495 http://nanbyodata.jp/ontology/NANDO_2200495 MONDO:0018950 http://purl.obolibrary.org/obo/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 Orphanet:6 https://www.orpha.net/en/disease/detail/6 NANDO:2200518 http://nanbyodata.jp/ontology/NANDO_2200518 MONDO:0019169 http://purl.obolibrary.org/obo/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 Orphanet:765 https://www.orpha.net/en/disease/detail/765 NANDO:2200506 http://nanbyodata.jp/ontology/NANDO_2200506 MONDO:0019218 http://purl.obolibrary.org/obo/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 Orphanet:79168 https://www.orpha.net/en/disease/detail/79168 NANDO:2200555 http://nanbyodata.jp/ontology/NANDO_2200555 MONDO:0008830 http://purl.obolibrary.org/obo/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 Orphanet:93 https://www.orpha.net/en/disease/detail/93 NANDO:2200553 http://nanbyodata.jp/ontology/NANDO_2200553 MONDO:0009254 http://purl.obolibrary.org/obo/MONDO_0009254 http://www.w3.org/2004/02/skos/core#exactMatch フコシドーシス fucosidosis Orphanet:349 https://www.orpha.net/en/disease/detail/349 NANDO:2200551 http://nanbyodata.jp/ontology/NANDO_2200551 MONDO:0009661 http://purl.obolibrary.org/obo/MONDO_0009661 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症6型 mucopolysaccharidosis type 6 Orphanet:583 https://www.orpha.net/en/disease/detail/583 NANDO:2200552 http://nanbyodata.jp/ontology/NANDO_2200552 MONDO:0009662 http://purl.obolibrary.org/obo/MONDO_0009662 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症7型 mucopolysaccharidosis type 7 Orphanet:584 https://www.orpha.net/en/disease/detail/584 NANDO:2200557 http://nanbyodata.jp/ontology/NANDO_2200557 MONDO:0009737 http://purl.obolibrary.org/obo/MONDO_0009737 http://www.w3.org/2004/02/skos/core#exactMatch ガラクトシアリドーシス galactosialidosis Orphanet:351 https://www.orpha.net/en/disease/detail/351 NANDO:2200548 http://nanbyodata.jp/ontology/NANDO_2200548 MONDO:0010674 http://purl.obolibrary.org/obo/MONDO_0010674 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型 mucopolysaccharidosis type 2 Orphanet:580 https://www.orpha.net/en/disease/detail/580 NANDO:2200548 http://nanbyodata.jp/ontology/NANDO_2200548 MONDO:0010674 http://purl.obolibrary.org/obo/MONDO_0010674 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型 mucopolysaccharidosis type 2 Orphanet:79388 https://www.orpha.net/en/disease/detail/79388 NANDO:2200559 http://nanbyodata.jp/ontology/NANDO_2200559 MONDO:0017720 http://purl.obolibrary.org/obo/MONDO_0017720 http://www.w3.org/2004/02/skos/core#exactMatch GM2ガングリオシドーシス GM2 gangliosidosis Orphanet:309152 https://www.orpha.net/en/disease/detail/309152 NANDO:2200556 http://nanbyodata.jp/ontology/NANDO_2200556 MONDO:0017734 http://purl.obolibrary.org/obo/MONDO_0017734 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス sialidosis Orphanet:309294 https://www.orpha.net/en/disease/detail/309294 NANDO:2200558 http://nanbyodata.jp/ontology/NANDO_2200558 MONDO:0018149 http://purl.obolibrary.org/obo/MONDO_0018149 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス GM1 gangliosidosis Orphanet:354 https://www.orpha.net/en/disease/detail/354 NANDO:2200562 http://nanbyodata.jp/ontology/NANDO_2200562 MONDO:0018150 http://purl.obolibrary.org/obo/MONDO_0018150 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病 Gaucher disease Orphanet:355 https://www.orpha.net/en/disease/detail/355 NANDO:2200560 http://nanbyodata.jp/ontology/NANDO_2200560 MONDO:0018868 http://purl.obolibrary.org/obo/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 Orphanet:512 https://www.orpha.net/en/disease/detail/512 NANDO:2200549 http://nanbyodata.jp/ontology/NANDO_2200549 MONDO:0018937 http://purl.obolibrary.org/obo/MONDO_0018937 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症3型 mucopolysaccharidosis type 3 Orphanet:581 https://www.orpha.net/en/disease/detail/581 NANDO:2200550 http://nanbyodata.jp/ontology/NANDO_2200550 MONDO:0018938 http://purl.obolibrary.org/obo/MONDO_0018938 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4型 mucopolysaccharidosis type 4 Orphanet:582 https://www.orpha.net/en/disease/detail/582 NANDO:2200586 http://nanbyodata.jp/ontology/NANDO_2200586 MONDO:0010298 http://purl.obolibrary.org/obo/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 Orphanet:510 https://www.orpha.net/en/disease/detail/510 NANDO:2200602 http://nanbyodata.jp/ontology/NANDO_2200602 MONDO:0016525 http://purl.obolibrary.org/obo/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 Orphanet:371861 https://www.orpha.net/en/disease/detail/371861 NANDO:2200602 http://nanbyodata.jp/ontology/NANDO_2200602 MONDO:0016525 http://purl.obolibrary.org/obo/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 Orphanet:235936 https://www.orpha.net/en/disease/detail/235936 NANDO:2200570 http://nanbyodata.jp/ontology/NANDO_2200570 MONDO:0019148 http://purl.obolibrary.org/obo/MONDO_0019148 http://www.w3.org/2004/02/skos/core#closeMatch 酸性リパーゼ欠損症 Wolman disease Orphanet:75233 https://www.orpha.net/en/disease/detail/75233 NANDO:2200604 http://nanbyodata.jp/ontology/NANDO_2200604 MONDO:0008692 http://purl.obolibrary.org/obo/MONDO_0008692 http://www.w3.org/2004/02/skos/core#exactMatch 無βリポタンパク血症 abetalipoproteinemia Orphanet:14 https://www.orpha.net/en/disease/detail/14 NANDO:2200584 http://nanbyodata.jp/ontology/NANDO_2200584 MONDO:0008713 http://purl.obolibrary.org/obo/MONDO_0008713 http://www.w3.org/2004/02/skos/core#exactMatch 腸性肢端皮膚炎 acrodermatitis enteropathica Orphanet:37 https://www.orpha.net/en/disease/detail/37 NANDO:2200617 http://nanbyodata.jp/ontology/NANDO_2200617 MONDO:0008846 http://purl.obolibrary.org/obo/MONDO_0008846 http://www.w3.org/2004/02/skos/core#exactMatch 無トランスフェリン血症 atransferrinemia Orphanet:1195 https://www.orpha.net/en/disease/detail/1195 NANDO:2200597 http://nanbyodata.jp/ontology/NANDO_2200597 MONDO:0009123 http://purl.obolibrary.org/obo/MONDO_0009123 http://www.w3.org/2004/02/skos/core#exactMatch 起立性低血圧1 orthostatic hypotension 1 Orphanet:230 https://www.orpha.net/en/disease/detail/230 NANDO:2200565 http://nanbyodata.jp/ontology/NANDO_2200565 MONDO:0009218 http://purl.obolibrary.org/obo/MONDO_0009218 http://www.w3.org/2004/02/skos/core#exactMatch ファーバー脂肪肉芽腫症 Farber lipogranulomatosis Orphanet:333 https://www.orpha.net/en/disease/detail/333 NANDO:2200592 http://nanbyodata.jp/ontology/NANDO_2200592 MONDO:0009238 http://purl.obolibrary.org/obo/MONDO_0009238 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性葉酸吸収不全症 hereditary folate malabsorption Orphanet:90045 https://www.orpha.net/en/disease/detail/90045 NANDO:2200569 http://nanbyodata.jp/ontology/NANDO_2200569 MONDO:0009290 http://purl.obolibrary.org/obo/MONDO_0009290 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病II glycogen storage disease II Orphanet:365 https://www.orpha.net/en/disease/detail/365 NANDO:2200564 http://nanbyodata.jp/ontology/NANDO_2200564 MONDO:0009499 http://purl.obolibrary.org/obo/MONDO_0009499 http://www.w3.org/2004/02/skos/core#exactMatch クラッベ病 Krabbe disease Orphanet:487 https://www.orpha.net/en/disease/detail/487 NANDO:2200608 http://nanbyodata.jp/ontology/NANDO_2200608 MONDO:0009530 http://purl.obolibrary.org/obo/MONDO_0009530 http://www.w3.org/2004/02/skos/core#exactMatch リポイドタンパク症 lipoid proteinosis Orphanet:530 https://www.orpha.net/en/disease/detail/530 NANDO:2200567 http://nanbyodata.jp/ontology/NANDO_2200567 MONDO:0009650 http://purl.obolibrary.org/obo/MONDO_0009650 http://www.w3.org/2004/02/skos/core#exactMatch ムコリピドーシスII型 mucolipidosis type II Orphanet:576 https://www.orpha.net/en/disease/detail/576 NANDO:2200590 http://nanbyodata.jp/ontology/NANDO_2200590 MONDO:0009797 http://purl.obolibrary.org/obo/MONDO_0009797 http://www.w3.org/2004/02/skos/core#exactMatch オロト酸尿症 orotic aciduria Orphanet:30 https://www.orpha.net/en/disease/detail/30 NANDO:2200628 http://nanbyodata.jp/ontology/NANDO_2200628 MONDO:0009950 http://purl.obolibrary.org/obo/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 Orphanet:766 https://www.orpha.net/en/disease/detail/766 NANDO:2200577 http://nanbyodata.jp/ontology/NANDO_2200577 MONDO:0009958 http://purl.obolibrary.org/obo/MONDO_0009958 http://www.w3.org/2004/02/skos/core#exactMatch 成人レフサム病 adult Refsum disease Orphanet:773 https://www.orpha.net/en/disease/detail/773 NANDO:2200599 http://nanbyodata.jp/ontology/NANDO_2200599 MONDO:0010083 http://purl.obolibrary.org/obo/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 Orphanet:22 https://www.orpha.net/en/disease/detail/22 NANDO:2200566 http://nanbyodata.jp/ontology/NANDO_2200566 MONDO:0010088 http://purl.obolibrary.org/obo/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 Orphanet:585 https://www.orpha.net/en/disease/detail/585 NANDO:2200583 http://nanbyodata.jp/ontology/NANDO_2200583 MONDO:0010089 http://purl.obolibrary.org/obo/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 Orphanet:99731 https://www.orpha.net/en/disease/detail/99731 NANDO:2200579 http://nanbyodata.jp/ontology/NANDO_2200579 MONDO:0010200 http://purl.obolibrary.org/obo/MONDO_0010200 http://www.w3.org/2004/02/skos/core#exactMatch ウィルソン病 Wilson disease Orphanet:905 https://www.orpha.net/en/disease/detail/905 NANDO:2200563 http://nanbyodata.jp/ontology/NANDO_2200563 MONDO:0010526 http://purl.obolibrary.org/obo/MONDO_0010526 http://www.w3.org/2004/02/skos/core#exactMatch ファブリー病 Fabry disease Orphanet:324 https://www.orpha.net/en/disease/detail/324 NANDO:2200581 http://nanbyodata.jp/ontology/NANDO_2200581 MONDO:0010572 http://purl.obolibrary.org/obo/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 Orphanet:198 https://www.orpha.net/en/disease/detail/198 NANDO:2200580 http://nanbyodata.jp/ontology/NANDO_2200580 MONDO:0010651 http://purl.obolibrary.org/obo/MONDO_0010651 http://www.w3.org/2004/02/skos/core#exactMatch メンケス病 Menkes disease Orphanet:565 https://www.orpha.net/en/disease/detail/565 NANDO:2200624 http://nanbyodata.jp/ontology/NANDO_2200624 MONDO:0011382 http://purl.obolibrary.org/obo/MONDO_0011382 http://www.w3.org/2004/02/skos/core#exactMatch 鎌状赤血球性貧血 sickle cell anemia Orphanet:232 https://www.orpha.net/en/disease/detail/232 NANDO:2200582 http://nanbyodata.jp/ontology/NANDO_2200582 MONDO:0011426 http://purl.obolibrary.org/obo/MONDO_0011426 http://www.w3.org/2004/02/skos/core#exactMatch NBIA4 aceruloplasminemia Orphanet:48818 https://www.orpha.net/en/disease/detail/48818 NANDO:2200596 http://nanbyodata.jp/ontology/NANDO_2200596 MONDO:0012084 http://purl.obolibrary.org/obo/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 Orphanet:35708 https://www.orpha.net/en/disease/detail/35708 NANDO:2200598 http://nanbyodata.jp/ontology/NANDO_2200598 MONDO:0013166 http://purl.obolibrary.org/obo/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 Orphanet:2066 https://www.orpha.net/en/disease/detail/2066 NANDO:2200611 http://nanbyodata.jp/ontology/NANDO_2200611 MONDO:0013282 http://purl.obolibrary.org/obo/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 Orphanet:60 https://www.orpha.net/en/disease/detail/60 NANDO:2200587 http://nanbyodata.jp/ontology/NANDO_2200587 MONDO:0013869 http://purl.obolibrary.org/obo/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 Orphanet:976 https://www.orpha.net/en/disease/detail/976 NANDO:2200616 http://nanbyodata.jp/ontology/NANDO_2200616 MONDO:0015194 http://purl.obolibrary.org/obo/MONDO_0015194 http://www.w3.org/2004/02/skos/core#exactMatch 鉄芽球性貧血 sideroblastic anemia Orphanet:1047 https://www.orpha.net/en/disease/detail/1047 NANDO:2200614 http://nanbyodata.jp/ontology/NANDO_2200614 MONDO:0015253 http://purl.obolibrary.org/obo/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 Orphanet:124 https://www.orpha.net/en/disease/detail/124 NANDO:2200586 http://nanbyodata.jp/ontology/NANDO_2200586 MONDO:0016088 http://purl.obolibrary.org/obo/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 Orphanet:206428 https://www.orpha.net/en/disease/detail/206428 NANDO:2200571 http://nanbyodata.jp/ontology/NANDO_2200571 MONDO:0016239 http://purl.obolibrary.org/obo/MONDO_0016239 http://www.w3.org/2004/02/skos/core#exactMatch シスチン症 cystinosis Orphanet:213 https://www.orpha.net/en/disease/detail/213 NANDO:2200635 http://nanbyodata.jp/ontology/NANDO_2200635 MONDO:0016242 http://purl.obolibrary.org/obo/MONDO_0016242 http://www.w3.org/2004/02/skos/core#exactMatch ヘモグロビンC症 hemoglobin C disease Orphanet:2132 https://www.orpha.net/en/disease/detail/2132 NANDO:2200573 http://nanbyodata.jp/ontology/NANDO_2200573 MONDO:0016295 http://purl.obolibrary.org/obo/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 Orphanet:216 https://www.orpha.net/en/disease/detail/216 NANDO:2200594 http://nanbyodata.jp/ontology/NANDO_2200594 MONDO:0016543 http://purl.obolibrary.org/obo/MONDO_0016543 http://www.w3.org/2004/02/skos/core#exactMatch BH4欠損症 hyperphenylalaninemia due to tetrahydrobiopterin deficiency Orphanet:238583 https://www.orpha.net/en/disease/detail/238583 NANDO:2200630 http://nanbyodata.jp/ontology/NANDO_2200630 MONDO:0017319 http://purl.obolibrary.org/obo/MONDO_0017319 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性楕円赤血球症 hereditary elliptocytosis Orphanet:288 https://www.orpha.net/en/disease/detail/288 NANDO:2200605 http://nanbyodata.jp/ontology/NANDO_2200605 MONDO:0017773 http://purl.obolibrary.org/obo/MONDO_0017773 http://www.w3.org/2004/02/skos/core#exactMatch 高比重リポタンパク欠乏症 hypoalphalipoproteinemia Orphanet:31153 https://www.orpha.net/en/disease/detail/31153 NANDO:2200633 http://nanbyodata.jp/ontology/NANDO_2200633 MONDO:0017910 http://purl.obolibrary.org/obo/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 Orphanet:3202 https://www.orpha.net/en/disease/detail/3202 NANDO:2200576 http://nanbyodata.jp/ontology/NANDO_2200576 MONDO:0018544 http://purl.obolibrary.org/obo/MONDO_0018544 http://www.w3.org/2004/02/skos/core#exactMatch 副腎白質ジストロフィー adrenoleukodystrophy Orphanet:43 https://www.orpha.net/en/disease/detail/43 NANDO:2200618 http://nanbyodata.jp/ontology/NANDO_2200618 MONDO:0018922 http://purl.obolibrary.org/obo/MONDO_0018922 http://www.w3.org/2004/02/skos/core#exactMatch 寒冷凝集素症 cold agglutinin disease Orphanet:56425 https://www.orpha.net/en/disease/detail/56425 NANDO:2200568 http://nanbyodata.jp/ontology/NANDO_2200568 MONDO:0018931 http://purl.obolibrary.org/obo/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 Orphanet:423461 https://www.orpha.net/en/disease/detail/423461 NANDO:2200568 http://nanbyodata.jp/ontology/NANDO_2200568 MONDO:0018931 http://purl.obolibrary.org/obo/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 Orphanet:577 https://www.orpha.net/en/disease/detail/577 NANDO:2200610 http://nanbyodata.jp/ontology/NANDO_2200610 MONDO:0019142 http://purl.obolibrary.org/obo/MONDO_0019142 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ポルフィリン症 inherited porphyria Orphanet:738 https://www.orpha.net/en/disease/detail/738 NANDO:2200575 http://nanbyodata.jp/ontology/NANDO_2200575 MONDO:0019234 http://purl.obolibrary.org/obo/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 Orphanet:79189 https://www.orpha.net/en/disease/detail/79189 NANDO:2200622 http://nanbyodata.jp/ontology/NANDO_2200622 MONDO:0019350 http://purl.obolibrary.org/obo/MONDO_0019350 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性球状赤血球症 hereditary spherocytosis Orphanet:822 https://www.orpha.net/en/disease/detail/822 NANDO:2200572 http://nanbyodata.jp/ontology/NANDO_2200572 MONDO:0019366 http://purl.obolibrary.org/obo/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 Orphanet:834 https://www.orpha.net/en/disease/detail/834 NANDO:2200615 http://nanbyodata.jp/ontology/NANDO_2200615 MONDO:0019403 http://purl.obolibrary.org/obo/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 Orphanet:85 https://www.orpha.net/en/disease/detail/85 NANDO:2200619 http://nanbyodata.jp/ontology/NANDO_2200619 MONDO:0019533 http://purl.obolibrary.org/obo/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 Orphanet:90035 https://www.orpha.net/en/disease/detail/90035 NANDO:2200607 http://nanbyodata.jp/ontology/NANDO_2200607 MONDO:0020066 http://purl.obolibrary.org/obo/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 Orphanet:98249 https://www.orpha.net/en/disease/detail/98249 NANDO:2200623 http://nanbyodata.jp/ontology/NANDO_2200623 MONDO:0020102 http://purl.obolibrary.org/obo/MONDO_0020102 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性有口赤血球症 hereditary stomatocytosis Orphanet:98365 https://www.orpha.net/en/disease/detail/98365 NANDO:2200613 http://nanbyodata.jp/ontology/NANDO_2200613 MONDO:0020338 http://purl.obolibrary.org/obo/MONDO_0020338 http://www.w3.org/2004/02/skos/core#exactMatch 後天性赤芽球癆 adult pure red cell aplasia Orphanet:98872 https://www.orpha.net/en/disease/detail/98872 NANDO:2200625 http://nanbyodata.jp/ontology/NANDO_2200625 MONDO:0020459 http://purl.obolibrary.org/obo/MONDO_0020459 http://www.w3.org/2004/02/skos/core#exactMatch 不安定ヘモグロビン症 unstable hemoglobin disease Orphanet:99139 https://www.orpha.net/en/disease/detail/99139 NANDO:2200643 http://nanbyodata.jp/ontology/NANDO_2200643 MONDO:0009891 http://purl.obolibrary.org/obo/MONDO_0009891 http://www.w3.org/2004/02/skos/core#exactMatch 後天性真性多血症 acquired polycythemia vera Orphanet:729 https://www.orpha.net/en/disease/detail/729 NANDO:2200640 http://nanbyodata.jp/ontology/NANDO_2200640 MONDO:0019536 http://purl.obolibrary.org/obo/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 Orphanet:90038 https://www.orpha.net/en/disease/detail/90038 NANDO:2200681 http://nanbyodata.jp/ontology/NANDO_2200681 MONDO:0018029 http://purl.obolibrary.org/obo/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 Orphanet:331 https://www.orpha.net/en/disease/detail/331 NANDO:2200712 http://nanbyodata.jp/ontology/NANDO_2200712 MONDO:0018923 http://purl.obolibrary.org/obo/MONDO_0018923 http://www.w3.org/2004/02/skos/core#closeMatch 22q11.2欠失症候群 22q11.2 deletion syndrome Orphanet:567 https://www.orpha.net/en/disease/detail/567 NANDO:2200655 http://nanbyodata.jp/ontology/NANDO_2200655 MONDO:0005029 http://purl.obolibrary.org/obo/MONDO_0005029 http://www.w3.org/2004/02/skos/core#exactMatch 本態性血小板血症 essential thrombocythemia Orphanet:3318 https://www.orpha.net/en/disease/detail/3318 NANDO:2200696 http://nanbyodata.jp/ontology/NANDO_2200696 MONDO:0007064 http://purl.obolibrary.org/obo/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 Orphanet:277 https://www.orpha.net/en/disease/detail/277 NANDO:2200668 http://nanbyodata.jp/ontology/NANDO_2200668 MONDO:0008332 http://purl.obolibrary.org/obo/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 Orphanet:52530 https://www.orpha.net/en/disease/detail/52530 NANDO:2200645 http://nanbyodata.jp/ontology/NANDO_2200645 MONDO:0008558 http://purl.obolibrary.org/obo/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 Orphanet:3002 https://www.orpha.net/en/disease/detail/3002 NANDO:2200672 http://nanbyodata.jp/ontology/NANDO_2200672 MONDO:0008737 http://purl.obolibrary.org/obo/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 Orphanet:98880 https://www.orpha.net/en/disease/detail/98880 NANDO:2200702 http://nanbyodata.jp/ontology/NANDO_2200702 MONDO:0008855 http://purl.obolibrary.org/obo/MONDO_0008855 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスII欠損症 MHC class II deficiency Orphanet:572 https://www.orpha.net/en/disease/detail/572 NANDO:2200685 http://nanbyodata.jp/ontology/NANDO_2200685 MONDO:0009234 http://purl.obolibrary.org/obo/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 Orphanet:483 https://www.orpha.net/en/disease/detail/483 NANDO:2200656 http://nanbyodata.jp/ontology/NANDO_2200656 MONDO:0009276 http://purl.obolibrary.org/obo/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 Orphanet:274 https://www.orpha.net/en/disease/detail/274 NANDO:2200680 http://nanbyodata.jp/ontology/NANDO_2200680 MONDO:0009315 http://purl.obolibrary.org/obo/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 Orphanet:330 https://www.orpha.net/en/disease/detail/330 NANDO:2200687 http://nanbyodata.jp/ontology/NANDO_2200687 MONDO:0009883 http://purl.obolibrary.org/obo/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 Orphanet:79 https://www.orpha.net/en/disease/detail/79 NANDO:2200671 http://nanbyodata.jp/ontology/NANDO_2200671 MONDO:0009885 http://purl.obolibrary.org/obo/MONDO_0009885 http://www.w3.org/2004/02/skos/core#exactMatch スコット症候群 Scott syndrome Orphanet:806 https://www.orpha.net/en/disease/detail/806 NANDO:2200695 http://nanbyodata.jp/ontology/NANDO_2200695 MONDO:0009973 http://purl.obolibrary.org/obo/MONDO_0009973 http://www.w3.org/2004/02/skos/core#exactMatch 細網異形成症 reticular dysgenesis Orphanet:33355 https://www.orpha.net/en/disease/detail/33355 NANDO:2200700 http://nanbyodata.jp/ontology/NANDO_2200700 MONDO:0010023 http://purl.obolibrary.org/obo/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 Orphanet:911 https://www.orpha.net/en/disease/detail/911 NANDO:2200661 http://nanbyodata.jp/ontology/NANDO_2200661 MONDO:0010121 http://purl.obolibrary.org/obo/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 Orphanet:3320 https://www.orpha.net/en/disease/detail/3320 NANDO:2200694 http://nanbyodata.jp/ontology/NANDO_2200694 MONDO:0010315 http://purl.obolibrary.org/obo/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 Orphanet:276 https://www.orpha.net/en/disease/detail/276 NANDO:2200704 http://nanbyodata.jp/ontology/NANDO_2200704 MONDO:0010518 http://purl.obolibrary.org/obo/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 Orphanet:906 https://www.orpha.net/en/disease/detail/906 NANDO:2200676 http://nanbyodata.jp/ontology/NANDO_2200676 MONDO:0010602 http://purl.obolibrary.org/obo/MONDO_0010602 http://www.w3.org/2004/02/skos/core#exactMatch 血友病A hemophilia A Orphanet:98878 https://www.orpha.net/en/disease/detail/98878 NANDO:2200677 http://nanbyodata.jp/ontology/NANDO_2200677 MONDO:0010604 http://purl.obolibrary.org/obo/MONDO_0010604 http://www.w3.org/2004/02/skos/core#exactMatch 血友病B hemophilia B Orphanet:98879 https://www.orpha.net/en/disease/detail/98879 NANDO:2200697 http://nanbyodata.jp/ontology/NANDO_2200697 MONDO:0011338 http://purl.obolibrary.org/obo/MONDO_0011338 http://www.w3.org/2004/02/skos/core#exactMatch オーメン症候群 Omenn syndrome Orphanet:39041 https://www.orpha.net/en/disease/detail/39041 NANDO:2200701 http://nanbyodata.jp/ontology/NANDO_2200701 MONDO:0011476 http://purl.obolibrary.org/obo/MONDO_0011476 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスI欠損症 MHC class I deficiency Orphanet:34592 https://www.orpha.net/en/disease/detail/34592 NANDO:2200660 http://nanbyodata.jp/ontology/NANDO_2200660 MONDO:0011555 http://purl.obolibrary.org/obo/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 Orphanet:71289 https://www.orpha.net/en/disease/detail/71289 NANDO:2200699 http://nanbyodata.jp/ontology/NANDO_2200699 MONDO:0012161 http://purl.obolibrary.org/obo/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 Orphanet:169085 https://www.orpha.net/en/disease/detail/169085 NANDO:2200669 http://nanbyodata.jp/ontology/NANDO_2200669 MONDO:0012354 http://purl.obolibrary.org/obo/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 Orphanet:36355 https://www.orpha.net/en/disease/detail/36355 NANDO:2200684 http://nanbyodata.jp/ontology/NANDO_2200684 MONDO:0012901 http://purl.obolibrary.org/obo/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 Orphanet:749 https://www.orpha.net/en/disease/detail/749 NANDO:2200698 http://nanbyodata.jp/ontology/NANDO_2200698 MONDO:0013171 http://purl.obolibrary.org/obo/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 Orphanet:760 https://www.orpha.net/en/disease/detail/760 NANDO:2200688 http://nanbyodata.jp/ontology/NANDO_2200688 MONDO:0013227 http://purl.obolibrary.org/obo/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 Orphanet:465 https://www.orpha.net/en/disease/detail/465 NANDO:2200673 http://nanbyodata.jp/ontology/NANDO_2200673 MONDO:0013361 http://purl.obolibrary.org/obo/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 Orphanet:325 https://www.orpha.net/en/disease/detail/325 NANDO:2200670 http://nanbyodata.jp/ontology/NANDO_2200670 MONDO:0013623 http://purl.obolibrary.org/obo/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 Orphanet:98885 https://www.orpha.net/en/disease/detail/98885 NANDO:2200693 http://nanbyodata.jp/ontology/NANDO_2200693 MONDO:0015909 http://purl.obolibrary.org/obo/MONDO_0015909 http://www.w3.org/2004/02/skos/core#exactMatch 再生不良性貧血 aplastic anemia Orphanet:182040 https://www.orpha.net/en/disease/detail/182040 NANDO:2200648 http://nanbyodata.jp/ontology/NANDO_2200648 MONDO:0018048 http://purl.obolibrary.org/obo/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 Orphanet:3325 https://www.orpha.net/en/disease/detail/3325 NANDO:2200686 http://nanbyodata.jp/ontology/NANDO_2200686 MONDO:0018175 http://purl.obolibrary.org/obo/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 Orphanet:35909 https://www.orpha.net/en/disease/detail/35909 NANDO:2200649 http://nanbyodata.jp/ontology/NANDO_2200649 MONDO:0018896 http://purl.obolibrary.org/obo/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 Orphanet:54057 https://www.orpha.net/en/disease/detail/54057 NANDO:2200689 http://nanbyodata.jp/ontology/NANDO_2200689 MONDO:0019145 http://purl.obolibrary.org/obo/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 Orphanet:745 https://www.orpha.net/en/disease/detail/745 NANDO:2200652 http://nanbyodata.jp/ontology/NANDO_2200652 MONDO:0019391 http://purl.obolibrary.org/obo/MONDO_0019391 http://www.w3.org/2004/02/skos/core#exactMatch ファンコニ貧血 Fanconi anemia Orphanet:84 https://www.orpha.net/en/disease/detail/84 NANDO:2200647 http://nanbyodata.jp/ontology/NANDO_2200647 MONDO:0019415 http://purl.obolibrary.org/obo/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 Orphanet:853 https://www.orpha.net/en/disease/detail/853 NANDO:2200708 http://nanbyodata.jp/ontology/NANDO_2200708 MONDO:0000133 http://purl.obolibrary.org/obo/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 Orphanet:2268 https://www.orpha.net/en/disease/detail/2268 NANDO:2200705 http://nanbyodata.jp/ontology/NANDO_2200705 MONDO:0008840 http://purl.obolibrary.org/obo/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 Orphanet:100 https://www.orpha.net/en/disease/detail/100 NANDO:2200707 http://nanbyodata.jp/ontology/NANDO_2200707 MONDO:0008876 http://purl.obolibrary.org/obo/MONDO_0008876 http://www.w3.org/2004/02/skos/core#exactMatch ブルーム症候群 Bloom syndrome Orphanet:125 https://www.orpha.net/en/disease/detail/125 NANDO:2200724 http://nanbyodata.jp/ontology/NANDO_2200724 MONDO:0008963 http://purl.obolibrary.org/obo/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 Orphanet:167 https://www.orpha.net/en/disease/detail/167 NANDO:2200714 http://nanbyodata.jp/ontology/NANDO_2200714 MONDO:0009338 http://purl.obolibrary.org/obo/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 Orphanet:79124 https://www.orpha.net/en/disease/detail/79124 NANDO:2200711 http://nanbyodata.jp/ontology/NANDO_2200711 MONDO:0009458 http://purl.obolibrary.org/obo/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 Orphanet:1830 https://www.orpha.net/en/disease/detail/1830 NANDO:2200706 http://nanbyodata.jp/ontology/NANDO_2200706 MONDO:0009623 http://purl.obolibrary.org/obo/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 Orphanet:647 https://www.orpha.net/en/disease/detail/647 NANDO:2200716 http://nanbyodata.jp/ontology/NANDO_2200716 MONDO:0010421 http://purl.obolibrary.org/obo/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 Orphanet:47 https://www.orpha.net/en/disease/detail/47 NANDO:2200725 http://nanbyodata.jp/ontology/NANDO_2200725 MONDO:0010627 http://purl.obolibrary.org/obo/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 Orphanet:2442 https://www.orpha.net/en/disease/detail/2442 NANDO:2200710 http://nanbyodata.jp/ontology/NANDO_2200710 MONDO:0012764 http://purl.obolibrary.org/obo/MONDO_0012764 http://www.w3.org/2004/02/skos/core#exactMatch RIDDLE症候群 RIDDLE syndrome Orphanet:420741 https://www.orpha.net/en/disease/detail/420741 NANDO:2200719 http://nanbyodata.jp/ontology/NANDO_2200719 MONDO:0013576 http://purl.obolibrary.org/obo/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 Orphanet:183675 https://www.orpha.net/en/disease/detail/183675 NANDO:2200717 http://nanbyodata.jp/ontology/NANDO_2200717 MONDO:0015517 http://purl.obolibrary.org/obo/MONDO_0015517 http://www.w3.org/2004/02/skos/core#exactMatch 分類不能型免疫不全症 common variable immunodeficiency Orphanet:1572 https://www.orpha.net/en/disease/detail/1572 NANDO:2200722 http://nanbyodata.jp/ontology/NANDO_2200722 MONDO:0015698 http://purl.obolibrary.org/obo/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 Orphanet:169139 https://www.orpha.net/en/disease/detail/169139 NANDO:2200715 http://nanbyodata.jp/ontology/NANDO_2200715 MONDO:0015780 http://purl.obolibrary.org/obo/MONDO_0015780 http://www.w3.org/2004/02/skos/core#exactMatch 先天性角化異常症 dyskeratosis congenita Orphanet:1775 https://www.orpha.net/en/disease/detail/1775 NANDO:2200726 http://nanbyodata.jp/ontology/NANDO_2200726 MONDO:0017979 http://purl.obolibrary.org/obo/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 Orphanet:3261 https://www.orpha.net/en/disease/detail/3261 NANDO:2200713 http://nanbyodata.jp/ontology/NANDO_2200713 MONDO:0018037 http://purl.obolibrary.org/obo/MONDO_0018037 http://www.w3.org/2004/02/skos/core#exactMatch 高IgE症候群 hyper-IgE syndrome Orphanet:331223 https://www.orpha.net/en/disease/detail/331223 NANDO:2200738 http://nanbyodata.jp/ontology/NANDO_2200738 MONDO:0009411 http://purl.obolibrary.org/obo/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 Orphanet:3453 https://www.orpha.net/en/disease/detail/3453 NANDO:2200805 http://nanbyodata.jp/ontology/NANDO_2200805 MONDO:0015691 http://purl.obolibrary.org/obo/MONDO_0015691 http://www.w3.org/2004/02/skos/core#closeMatch 好酸球増加症 hypereosinophilic syndrome Orphanet:168956 https://www.orpha.net/en/disease/detail/168956 NANDO:2200814 http://nanbyodata.jp/ontology/NANDO_2200814 MONDO:0017069 http://purl.obolibrary.org/obo/MONDO_0017069 http://www.w3.org/2004/02/skos/core#closeMatch 脊髄髄膜瘤 spina bifida cystica Orphanet:268744 https://www.orpha.net/en/disease/detail/268744 NANDO:2200776 http://nanbyodata.jp/ontology/NANDO_2200776 MONDO:0003832 http://purl.obolibrary.org/obo/MONDO_0003832 http://www.w3.org/2004/02/skos/core#exactMatch 補体欠損症 complement deficiency Orphanet:459345 https://www.orpha.net/en/disease/detail/459345 NANDO:2200746 http://nanbyodata.jp/ontology/NANDO_2200746 MONDO:0008090 http://purl.obolibrary.org/obo/MONDO_0008090 http://www.w3.org/2004/02/skos/core#exactMatch 周期性好中球減少症 cyclic hematopoiesis Orphanet:2686 https://www.orpha.net/en/disease/detail/2686 NANDO:2200773 http://nanbyodata.jp/ontology/NANDO_2200773 MONDO:0008905 http://purl.obolibrary.org/obo/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 Orphanet:457088 https://www.orpha.net/en/disease/detail/457088 NANDO:2200768 http://nanbyodata.jp/ontology/NANDO_2200768 MONDO:0009176 http://purl.obolibrary.org/obo/MONDO_0009176 http://www.w3.org/2004/02/skos/core#exactMatch 疣贅状表皮発育異常症 epidermodysplasia verruciformis Orphanet:302 https://www.orpha.net/en/disease/detail/302 NANDO:2200758 http://nanbyodata.jp/ontology/NANDO_2200758 MONDO:0009694 http://purl.obolibrary.org/obo/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 Orphanet:2587 https://www.orpha.net/en/disease/detail/2587 NANDO:2200756 http://nanbyodata.jp/ontology/NANDO_2200756 MONDO:0009833 http://purl.obolibrary.org/obo/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 Orphanet:811 https://www.orpha.net/en/disease/detail/811 NANDO:2200775 http://nanbyodata.jp/ontology/NANDO_2200775 MONDO:0010066 http://purl.obolibrary.org/obo/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 Orphanet:101351 https://www.orpha.net/en/disease/detail/101351 NANDO:2200761 http://nanbyodata.jp/ontology/NANDO_2200761 MONDO:0010293 http://purl.obolibrary.org/obo/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 Orphanet:98813 https://www.orpha.net/en/disease/detail/98813 NANDO:2200753 http://nanbyodata.jp/ontology/NANDO_2200753 MONDO:0010294 http://purl.obolibrary.org/obo/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 Orphanet:86788 https://www.orpha.net/en/disease/detail/86788 NANDO:2200751 http://nanbyodata.jp/ontology/NANDO_2200751 MONDO:0010543 http://purl.obolibrary.org/obo/MONDO_0010543 http://www.w3.org/2004/02/skos/core#exactMatch バース症候群 Barth syndrome Orphanet:111 https://www.orpha.net/en/disease/detail/111 NANDO:2200789 http://nanbyodata.jp/ontology/NANDO_2200789 MONDO:0010713 http://purl.obolibrary.org/obo/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 Orphanet:2966 https://www.orpha.net/en/disease/detail/2966 NANDO:2200749 http://nanbyodata.jp/ontology/NANDO_2200749 MONDO:0011405 http://purl.obolibrary.org/obo/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 Orphanet:221046 https://www.orpha.net/en/disease/detail/221046 NANDO:2200736 http://nanbyodata.jp/ontology/NANDO_2200736 MONDO:0011664 http://purl.obolibrary.org/obo/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 Orphanet:169100 https://www.orpha.net/en/disease/detail/169100 NANDO:2200740 http://nanbyodata.jp/ontology/NANDO_2200740 MONDO:0011804 http://purl.obolibrary.org/obo/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 Orphanet:275517 https://www.orpha.net/en/disease/detail/275517 NANDO:2200732 http://nanbyodata.jp/ontology/NANDO_2200732 MONDO:0011872 http://purl.obolibrary.org/obo/MONDO_0011872 http://www.w3.org/2004/02/skos/core#exactMatch グリセリ症候群2型 Griscelli syndrome type 2 Orphanet:79477 https://www.orpha.net/en/disease/detail/79477 NANDO:2200762 http://nanbyodata.jp/ontology/NANDO_2200762 MONDO:0011888 http://purl.obolibrary.org/obo/MONDO_0011888 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症67 immunodeficiency 67 Orphanet:70592 https://www.orpha.net/en/disease/detail/70592 NANDO:2200744 http://nanbyodata.jp/ontology/NANDO_2200744 MONDO:0011939 http://purl.obolibrary.org/obo/MONDO_0011939 http://www.w3.org/2004/02/skos/core#exactMatch SPENCDI Spondyloenchondrodysplasia with immune dysregulation Orphanet:1855 https://www.orpha.net/en/disease/detail/1855 NANDO:2200733 http://nanbyodata.jp/ontology/NANDO_2200733 MONDO:0011997 http://purl.obolibrary.org/obo/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 Orphanet:183678 https://www.orpha.net/en/disease/detail/183678 NANDO:2200733 http://nanbyodata.jp/ontology/NANDO_2200733 MONDO:0011997 http://purl.obolibrary.org/obo/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 Orphanet:664500 https://www.orpha.net/en/disease/detail/664500 NANDO:2200771 http://nanbyodata.jp/ontology/NANDO_2200771 MONDO:0012383 http://purl.obolibrary.org/obo/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 Orphanet:75391 https://www.orpha.net/en/disease/detail/75391 NANDO:2200772 http://nanbyodata.jp/ontology/NANDO_2200772 MONDO:0012521 http://purl.obolibrary.org/obo/MONDO_0012521 http://www.w3.org/2004/02/skos/core#exactMatch 単純ヘルペス脳炎 herpes simplex encephalitis Orphanet:1930 https://www.orpha.net/en/disease/detail/1930 NANDO:2200752 http://nanbyodata.jp/ontology/NANDO_2200752 MONDO:0012559 http://purl.obolibrary.org/obo/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 Orphanet:90023 https://www.orpha.net/en/disease/detail/90023 NANDO:2200790 http://nanbyodata.jp/ontology/NANDO_2200790 MONDO:0012594 http://purl.obolibrary.org/obo/MONDO_0012594 http://www.w3.org/2004/02/skos/core#exactMatch I因子欠損症 complement factor I deficiency Orphanet:200418 https://www.orpha.net/en/disease/detail/200418 NANDO:2200763 http://nanbyodata.jp/ontology/NANDO_2200763 MONDO:0012839 http://purl.obolibrary.org/obo/MONDO_0012839 http://www.w3.org/2004/02/skos/core#exactMatch MyD88欠損症 pyogenic bacterial infections due to MyD88 deficiency Orphanet:183713 https://www.orpha.net/en/disease/detail/183713 NANDO:2200734 http://nanbyodata.jp/ontology/NANDO_2200734 MONDO:0013081 http://purl.obolibrary.org/obo/MONDO_0013081 http://www.w3.org/2004/02/skos/core#exactMatch リンパ増殖性症候群1 lymphoproliferative syndrome 1 Orphanet:538963 https://www.orpha.net/en/disease/detail/538963 NANDO:2200739 http://nanbyodata.jp/ontology/NANDO_2200739 MONDO:0013245 http://purl.obolibrary.org/obo/MONDO_0013245 http://www.w3.org/2004/02/skos/core#exactMatch ITCH欠損症 syndromic multisystem autoimmune disease due to ITCH deficiency Orphanet:228426 https://www.orpha.net/en/disease/detail/228426 NANDO:2200741 http://nanbyodata.jp/ontology/NANDO_2200741 MONDO:0013408 http://purl.obolibrary.org/obo/MONDO_0013408 http://www.w3.org/2004/02/skos/core#exactMatch FADD関連免疫不全症 FADD-related immunodeficiency Orphanet:306550 https://www.orpha.net/en/disease/detail/306550 NANDO:2200782 http://nanbyodata.jp/ontology/NANDO_2200782 MONDO:0013417 http://purl.obolibrary.org/obo/MONDO_0013417 http://www.w3.org/2004/02/skos/core#exactMatch 補体第3成分欠損症 complement component 3 deficiency Orphanet:280133 https://www.orpha.net/en/disease/detail/280133 NANDO:2200793 http://nanbyodata.jp/ontology/NANDO_2200793 MONDO:0013423 http://purl.obolibrary.org/obo/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 Orphanet:331187 https://www.orpha.net/en/disease/detail/331187 NANDO:2200794 http://nanbyodata.jp/ontology/NANDO_2200794 MONDO:0013467 http://purl.obolibrary.org/obo/MONDO_0013467 http://www.w3.org/2004/02/skos/core#exactMatch Ficolin3関連免疫不全症 immunodeficiency due to ficolin3 deficiency Orphanet:331190 https://www.orpha.net/en/disease/detail/331190 NANDO:2200788 http://nanbyodata.jp/ontology/NANDO_2200788 MONDO:0013487 http://purl.obolibrary.org/obo/MONDO_0013487 http://www.w3.org/2004/02/skos/core#exactMatch Factor D 欠損症 recurrent Neisseria infections due to factor D deficiency Orphanet:169467 https://www.orpha.net/en/disease/detail/169467 NANDO:2200766 http://nanbyodata.jp/ontology/NANDO_2200766 MONDO:0014389 http://purl.obolibrary.org/obo/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 Orphanet:397937 https://www.orpha.net/en/disease/detail/397937 NANDO:2200770 http://nanbyodata.jp/ontology/NANDO_2200770 MONDO:0014715 http://purl.obolibrary.org/obo/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 Orphanet:431166 https://www.orpha.net/en/disease/detail/431166 NANDO:2200764 http://nanbyodata.jp/ontology/NANDO_2200764 MONDO:0015279 http://purl.obolibrary.org/obo/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 Orphanet:1334 https://www.orpha.net/en/disease/detail/1334 NANDO:2200792 http://nanbyodata.jp/ontology/NANDO_2200792 MONDO:0017398 http://purl.obolibrary.org/obo/MONDO_0017398 http://www.w3.org/2004/02/skos/core#exactMatch 3MC症候群 3MC syndrome Orphanet:293843 https://www.orpha.net/en/disease/detail/293843 NANDO:2200755 http://nanbyodata.jp/ontology/NANDO_2200755 MONDO:0017570 http://purl.obolibrary.org/obo/MONDO_0017570 http://www.w3.org/2004/02/skos/core#exactMatch 白血球接着不全症 leukocyte adhesion deficiency Orphanet:2968 https://www.orpha.net/en/disease/detail/2968 NANDO:2200757 http://nanbyodata.jp/ontology/NANDO_2200757 MONDO:0018305 http://purl.obolibrary.org/obo/MONDO_0018305 http://www.w3.org/2004/02/skos/core#exactMatch 慢性肉芽腫症 chronic granulomatous disease Orphanet:379 https://www.orpha.net/en/disease/detail/379 NANDO:2200745 http://nanbyodata.jp/ontology/NANDO_2200745 MONDO:0018542 http://purl.obolibrary.org/obo/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 Orphanet:42738 https://www.orpha.net/en/disease/detail/42738 NANDO:2200759 http://nanbyodata.jp/ontology/NANDO_2200759 MONDO:0019146 http://purl.obolibrary.org/obo/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 Orphanet:748 https://www.orpha.net/en/disease/detail/748 NANDO:2200795 http://nanbyodata.jp/ontology/NANDO_2200795 MONDO:0019623 http://purl.obolibrary.org/obo/MONDO_0019623 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性血管性浮腫 hereditary angioedema Orphanet:91378 https://www.orpha.net/en/disease/detail/91378 NANDO:2200737 http://nanbyodata.jp/ontology/NANDO_2200737 MONDO:0100211 http://purl.obolibrary.org/obo/MONDO_0100211 http://www.w3.org/2004/02/skos/core#exactMatch STAT5b欠損症 growth hormone insensitivity with immune dysregulation 1, autosomal recessive Orphanet:220465 https://www.orpha.net/en/disease/detail/220465 NANDO:2200815 http://nanbyodata.jp/ontology/NANDO_2200815 MONDO:0001790 http://purl.obolibrary.org/obo/MONDO_0001790 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄脂肪腫 spinal cord lipoma Orphanet:645276 https://www.orpha.net/en/disease/detail/645276 NANDO:2200808 http://nanbyodata.jp/ontology/NANDO_2200808 MONDO:0009194 http://purl.obolibrary.org/obo/MONDO_0009194 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症32B immunodeficiency 32B Orphanet:2566 https://www.orpha.net/en/disease/detail/2566 NANDO:2200818 http://nanbyodata.jp/ontology/NANDO_2200818 MONDO:0010011 http://purl.obolibrary.org/obo/MONDO_0010011 http://www.w3.org/2004/02/skos/core#exactMatch 裂脳症 schizencephaly Orphanet:799 https://www.orpha.net/en/disease/detail/799 NANDO:2200804 http://nanbyodata.jp/ontology/NANDO_2200804 MONDO:0012858 http://purl.obolibrary.org/obo/MONDO_0012858 http://www.w3.org/2004/02/skos/core#exactMatch CD59欠損症 primary CD59 deficiency Orphanet:169464 https://www.orpha.net/en/disease/detail/169464 NANDO:2200806 http://nanbyodata.jp/ontology/NANDO_2200806 MONDO:0015691 http://purl.obolibrary.org/obo/MONDO_0015691 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球増加症 hypereosinophilic syndrome Orphanet:168956 https://www.orpha.net/en/disease/detail/168956 NANDO:2200819 http://nanbyodata.jp/ontology/NANDO_2200819 MONDO:0016296 http://purl.obolibrary.org/obo/MONDO_0016296 http://www.w3.org/2004/02/skos/core#exactMatch 全前脳症 holoprosencephaly Orphanet:2162 https://www.orpha.net/en/disease/detail/2162 NANDO:2200813 http://nanbyodata.jp/ontology/NANDO_2200813 MONDO:0017079 http://purl.obolibrary.org/obo/MONDO_0017079 http://www.w3.org/2004/02/skos/core#exactMatch 髄膜脳瘤 meningoencephalocele Orphanet:268820 https://www.orpha.net/en/disease/detail/268820 NANDO:2200807 http://nanbyodata.jp/ontology/NANDO_2200807 MONDO:0018438 http://purl.obolibrary.org/obo/MONDO_0018438 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性消化管疾患 eosinophilic gastrointestinal disease Orphanet:402029 https://www.orpha.net/en/disease/detail/402029 NANDO:2200817 http://nanbyodata.jp/ontology/NANDO_2200817 MONDO:0018838 http://purl.obolibrary.org/obo/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 Orphanet:48471 https://www.orpha.net/en/disease/detail/48471 NANDO:2200814 http://nanbyodata.jp/ontology/NANDO_2200814 MONDO:0019773 http://purl.obolibrary.org/obo/MONDO_0019773 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄髄膜瘤 myelomeningocele Orphanet:93969 https://www.orpha.net/en/disease/detail/93969 NANDO:2200812 http://nanbyodata.jp/ontology/NANDO_2200812 MONDO:0020547 http://purl.obolibrary.org/obo/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 Orphanet:99921 https://www.orpha.net/en/disease/detail/99921 NANDO:2200816 http://nanbyodata.jp/ontology/NANDO_2200816 MONDO:0042727 http://purl.obolibrary.org/obo/MONDO_0042727 http://www.w3.org/2004/02/skos/core#exactMatch 仙尾部奇形腫 sacrococcygeal teratoma Orphanet:494421 https://www.orpha.net/en/disease/detail/494421 NANDO:2200855 http://nanbyodata.jp/ontology/NANDO_2200855 MONDO:0015626 http://purl.obolibrary.org/obo/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 Orphanet:166 https://www.orpha.net/en/disease/detail/166 NANDO:2200867 http://nanbyodata.jp/ontology/NANDO_2200867 MONDO:0018947 http://purl.obolibrary.org/obo/MONDO_0018947 http://www.w3.org/2004/02/skos/core#closeMatch 中心核ミオパチー centronuclear myopathy Orphanet:595 https://www.orpha.net/en/disease/detail/595 NANDO:2200862 http://nanbyodata.jp/ontology/NANDO_2200862 MONDO:0000355 http://purl.obolibrary.org/obo/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 Orphanet:75840 https://www.orpha.net/en/disease/detail/75840 NANDO:2200842 http://nanbyodata.jp/ontology/NANDO_2200842 MONDO:0000456 http://purl.obolibrary.org/obo/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 Orphanet:79172 https://www.orpha.net/en/disease/detail/79172 NANDO:2200859 http://nanbyodata.jp/ontology/NANDO_2200859 MONDO:0001347 http://purl.obolibrary.org/obo/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 Orphanet:269 https://www.orpha.net/en/disease/detail/269 NANDO:2200826 http://nanbyodata.jp/ontology/NANDO_2200826 MONDO:0001734 http://purl.obolibrary.org/obo/MONDO_0001734 http://www.w3.org/2004/02/skos/core#exactMatch 結節性硬化症 tuberous sclerosis Orphanet:805 https://www.orpha.net/en/disease/detail/805 NANDO:2200892 http://nanbyodata.jp/ontology/NANDO_2200892 MONDO:0005715 http://purl.obolibrary.org/obo/MONDO_0005715 http://www.w3.org/2004/02/skos/core#exactMatch 先天性トキソプラズマ症 congenital toxoplasmosis Orphanet:858 https://www.orpha.net/en/disease/detail/858 NANDO:2200844 http://nanbyodata.jp/ontology/NANDO_2200844 MONDO:0007041 http://purl.obolibrary.org/obo/MONDO_0007041 http://www.w3.org/2004/02/skos/core#exactMatch アペール症候群 Apert syndrome Orphanet:87 https://www.orpha.net/en/disease/detail/87 NANDO:2200848 http://nanbyodata.jp/ontology/NANDO_2200848 MONDO:0007042 http://purl.obolibrary.org/obo/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 Orphanet:794 https://www.orpha.net/en/disease/detail/794 NANDO:2200851 http://nanbyodata.jp/ontology/NANDO_2200851 MONDO:0007154 http://purl.obolibrary.org/obo/MONDO_0007154 http://www.w3.org/2004/02/skos/core#exactMatch 脳動静脈奇形 arteriovenous malformations of the brain Orphanet:46724 https://www.orpha.net/en/disease/detail/46724 NANDO:2200828 http://nanbyodata.jp/ontology/NANDO_2200828 MONDO:0007187 http://purl.obolibrary.org/obo/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 Orphanet:377 https://www.orpha.net/en/disease/detail/377 NANDO:2200870 http://nanbyodata.jp/ontology/NANDO_2200870 MONDO:0007294 http://purl.obolibrary.org/obo/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 Orphanet:597 https://www.orpha.net/en/disease/detail/597 NANDO:2200845 http://nanbyodata.jp/ontology/NANDO_2200845 MONDO:0007405 http://purl.obolibrary.org/obo/MONDO_0007405 http://www.w3.org/2004/02/skos/core#exactMatch クルーゾン症候群 Crouzon syndrome Orphanet:207 https://www.orpha.net/en/disease/detail/207 NANDO:2200884 http://nanbyodata.jp/ontology/NANDO_2200884 MONDO:0007492 http://purl.obolibrary.org/obo/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 Orphanet:256 https://www.orpha.net/en/disease/detail/256 NANDO:2200833 http://nanbyodata.jp/ontology/NANDO_2200833 MONDO:0008310 http://purl.obolibrary.org/obo/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 Orphanet:740 https://www.orpha.net/en/disease/detail/740 NANDO:2200820 http://nanbyodata.jp/ontology/NANDO_2200820 MONDO:0008428 http://purl.obolibrary.org/obo/MONDO_0008428 http://www.w3.org/2004/02/skos/core#exactMatch 中隔視神経形成異常症 septooptic dysplasia Orphanet:3157 https://www.orpha.net/en/disease/detail/3157 NANDO:2200830 http://nanbyodata.jp/ontology/NANDO_2200830 MONDO:0008501 http://purl.obolibrary.org/obo/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 Orphanet:3205 https://www.orpha.net/en/disease/detail/3205 NANDO:2200829 http://nanbyodata.jp/ontology/NANDO_2200829 MONDO:0008667 http://purl.obolibrary.org/obo/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 Orphanet:892 https://www.orpha.net/en/disease/detail/892 NANDO:2200835 http://nanbyodata.jp/ontology/NANDO_2200835 MONDO:0008752 http://purl.obolibrary.org/obo/MONDO_0008752 http://www.w3.org/2004/02/skos/core#exactMatch アレキサンダー病 Alexander disease Orphanet:58 https://www.orpha.net/en/disease/detail/58 NANDO:2200821 http://nanbyodata.jp/ontology/NANDO_2200821 MONDO:0009072 http://purl.obolibrary.org/obo/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 Orphanet:217 https://www.orpha.net/en/disease/detail/217 NANDO:2200886 http://nanbyodata.jp/ontology/NANDO_2200886 MONDO:0009319 http://purl.obolibrary.org/obo/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 Orphanet:157850 https://www.orpha.net/en/disease/detail/157850 NANDO:2200827 http://nanbyodata.jp/ontology/NANDO_2200827 MONDO:0009578 http://purl.obolibrary.org/obo/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 Orphanet:2481 https://www.orpha.net/en/disease/detail/2481 NANDO:2200860 http://nanbyodata.jp/ontology/NANDO_2200860 MONDO:0009678 http://purl.obolibrary.org/obo/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 Orphanet:272 https://www.orpha.net/en/disease/detail/272 NANDO:2200881 http://nanbyodata.jp/ontology/NANDO_2200881 MONDO:0009697 http://purl.obolibrary.org/obo/MONDO_0009697 http://www.w3.org/2004/02/skos/core#exactMatch ラフォラ病 Lafora disease Orphanet:501 https://www.orpha.net/en/disease/detail/501 NANDO:2200880 http://nanbyodata.jp/ontology/NANDO_2200880 MONDO:0009698 http://purl.obolibrary.org/obo/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 Orphanet:308 https://www.orpha.net/en/disease/detail/308 NANDO:2200868 http://nanbyodata.jp/ontology/NANDO_2200868 MONDO:0009711 http://purl.obolibrary.org/obo/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 Orphanet:2020 https://www.orpha.net/en/disease/detail/2020 NANDO:2200872 http://nanbyodata.jp/ontology/NANDO_2200872 MONDO:0009712 http://purl.obolibrary.org/obo/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 Orphanet:98905 https://www.orpha.net/en/disease/detail/98905 NANDO:2200876 http://nanbyodata.jp/ontology/NANDO_2200876 MONDO:0009717 http://purl.obolibrary.org/obo/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 Orphanet:800 https://www.orpha.net/en/disease/detail/800 NANDO:2200854 http://nanbyodata.jp/ontology/NANDO_2200854 MONDO:0009746 http://purl.obolibrary.org/obo/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 Orphanet:642 https://www.orpha.net/en/disease/detail/642 NANDO:2200834 http://nanbyodata.jp/ontology/NANDO_2200834 MONDO:0010079 http://purl.obolibrary.org/obo/MONDO_0010079 http://www.w3.org/2004/02/skos/core#exactMatch カドミウム中毒 Canavan disease Orphanet:141 https://www.orpha.net/en/disease/detail/141 NANDO:2200831 http://nanbyodata.jp/ontology/NANDO_2200831 MONDO:0010196 http://purl.obolibrary.org/obo/MONDO_0010196 http://www.w3.org/2004/02/skos/core#exactMatch ウェルナー症候群 Werner syndrome Orphanet:902 https://www.orpha.net/en/disease/detail/902 NANDO:2200865 http://nanbyodata.jp/ontology/NANDO_2200865 MONDO:0010311 http://purl.obolibrary.org/obo/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 Orphanet:98895 https://www.orpha.net/en/disease/detail/98895 NANDO:2200840 http://nanbyodata.jp/ontology/NANDO_2200840 MONDO:0010383 http://purl.obolibrary.org/obo/MONDO_0010383 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱X症候群 fragile X syndrome Orphanet:908 https://www.orpha.net/en/disease/detail/908 NANDO:2200839 http://nanbyodata.jp/ontology/NANDO_2200839 MONDO:0010519 http://purl.obolibrary.org/obo/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 Orphanet:847 https://www.orpha.net/en/disease/detail/847 NANDO:2200856 http://nanbyodata.jp/ontology/NANDO_2200856 MONDO:0010679 http://purl.obolibrary.org/obo/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 Orphanet:98896 https://www.orpha.net/en/disease/detail/98896 NANDO:2200825 http://nanbyodata.jp/ontology/NANDO_2200825 MONDO:0010726 http://purl.obolibrary.org/obo/MONDO_0010726 http://www.w3.org/2004/02/skos/core#exactMatch レット症候群 Rett syndrome Orphanet:778 https://www.orpha.net/en/disease/detail/778 NANDO:2200823 http://nanbyodata.jp/ontology/NANDO_2200823 MONDO:0011240 http://purl.obolibrary.org/obo/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 Orphanet:60040 https://www.orpha.net/en/disease/detail/60040 NANDO:2200837 http://nanbyodata.jp/ontology/NANDO_2200837 MONDO:0011391 http://purl.obolibrary.org/obo/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 Orphanet:2478 https://www.orpha.net/en/disease/detail/2478 NANDO:2200861 http://nanbyodata.jp/ontology/NANDO_2200861 MONDO:0011925 http://purl.obolibrary.org/obo/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 Orphanet:258 https://www.orpha.net/en/disease/detail/258 NANDO:2200866 http://nanbyodata.jp/ontology/NANDO_2200866 MONDO:0013178 http://purl.obolibrary.org/obo/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 Orphanet:157973 https://www.orpha.net/en/disease/detail/157973 NANDO:2200843 http://nanbyodata.jp/ontology/NANDO_2200843 MONDO:0015337 http://purl.obolibrary.org/obo/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 Orphanet:139390 https://www.orpha.net/en/disease/detail/139390 NANDO:2200824 http://nanbyodata.jp/ontology/NANDO_2200824 MONDO:0015369 http://purl.obolibrary.org/obo/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 Orphanet:140874 https://www.orpha.net/en/disease/detail/140874 NANDO:2200888 http://nanbyodata.jp/ontology/NANDO_2200888 MONDO:0015518 http://purl.obolibrary.org/obo/MONDO_0015518 http://www.w3.org/2004/02/skos/core#exactMatch 乳児両側線条体壊死 infantile bilateral striatal necrosis Orphanet:1576 https://www.orpha.net/en/disease/detail/1576 NANDO:2200832 http://nanbyodata.jp/ontology/NANDO_2200832 MONDO:0016006 http://purl.obolibrary.org/obo/MONDO_0016006 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群 Cockayne syndrome Orphanet:191 https://www.orpha.net/en/disease/detail/191 NANDO:2200864 http://nanbyodata.jp/ontology/NANDO_2200864 MONDO:0016107 http://purl.obolibrary.org/obo/MONDO_0016107 http://www.w3.org/2004/02/skos/core#exactMatch 筋強直性ジストロフィー myotonic dystrophy Orphanet:206647 https://www.orpha.net/en/disease/detail/206647 NANDO:2200883 http://nanbyodata.jp/ontology/NANDO_2200883 MONDO:0016241 http://purl.obolibrary.org/obo/MONDO_0016241 http://www.w3.org/2004/02/skos/core#exactMatch 小児交互性片麻痺 alternating hemiplegia of childhood Orphanet:2131 https://www.orpha.net/en/disease/detail/2131 NANDO:2200822 http://nanbyodata.jp/ontology/NANDO_2200822 MONDO:0016349 http://purl.obolibrary.org/obo/MONDO_0016349 http://www.w3.org/2004/02/skos/core#exactMatch 先天性水頭症 congenital hydrocephalus Orphanet:2185 https://www.orpha.net/en/disease/detail/2185 NANDO:2200879 http://nanbyodata.jp/ontology/NANDO_2200879 MONDO:0016532 http://purl.obolibrary.org/obo/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 Orphanet:2382 https://www.orpha.net/en/disease/detail/2382 NANDO:2200885 http://nanbyodata.jp/ontology/NANDO_2200885 MONDO:0016812 http://purl.obolibrary.org/obo/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 Orphanet:255 https://www.orpha.net/en/disease/detail/255 NANDO:2200850 http://nanbyodata.jp/ontology/NANDO_2200850 MONDO:0016820 http://purl.obolibrary.org/obo/MONDO_0016820 http://www.w3.org/2004/02/skos/core#exactMatch もやもや病 Moyamoya disease Orphanet:2573 https://www.orpha.net/en/disease/detail/2573 NANDO:2200857 http://nanbyodata.jp/ontology/NANDO_2200857 MONDO:0016830 http://purl.obolibrary.org/obo/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 Orphanet:261 https://www.orpha.net/en/disease/detail/261 NANDO:2200858 http://nanbyodata.jp/ontology/NANDO_2200858 MONDO:0016971 http://purl.obolibrary.org/obo/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 Orphanet:263 https://www.orpha.net/en/disease/detail/263 NANDO:2200890 http://nanbyodata.jp/ontology/NANDO_2200890 MONDO:0017361 http://purl.obolibrary.org/obo/MONDO_0017361 http://www.w3.org/2004/02/skos/core#exactMatch 先天性風疹症候群 congenital rubella syndrome Orphanet:290 https://www.orpha.net/en/disease/detail/290 NANDO:2200889 http://nanbyodata.jp/ontology/NANDO_2200889 MONDO:0017381 http://purl.obolibrary.org/obo/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 Orphanet:293 https://www.orpha.net/en/disease/detail/293 NANDO:2200891 http://nanbyodata.jp/ontology/NANDO_2200891 MONDO:0017409 http://purl.obolibrary.org/obo/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 Orphanet:294 https://www.orpha.net/en/disease/detail/294 NANDO:2200878 http://nanbyodata.jp/ontology/NANDO_2200878 MONDO:0018097 http://purl.obolibrary.org/obo/MONDO_0018097 http://www.w3.org/2004/02/skos/core#exactMatch ウエスト症候群 West syndrome Orphanet:3451 https://www.orpha.net/en/disease/detail/3451 NANDO:2200893 http://nanbyodata.jp/ontology/NANDO_2200893 MONDO:0018866 http://purl.obolibrary.org/obo/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 Orphanet:51 https://www.orpha.net/en/disease/detail/51 NANDO:2200871 http://nanbyodata.jp/ontology/NANDO_2200871 MONDO:0018948 http://purl.obolibrary.org/obo/MONDO_0018948 http://www.w3.org/2004/02/skos/core#exactMatch ミニコア病 multiminicore myopathy Orphanet:598 https://www.orpha.net/en/disease/detail/598 NANDO:2200869 http://nanbyodata.jp/ontology/NANDO_2200869 MONDO:0018958 http://purl.obolibrary.org/obo/MONDO_0018958 http://www.w3.org/2004/02/skos/core#exactMatch ネマリンミオパチー nemaline myopathy Orphanet:607 https://www.orpha.net/en/disease/detail/607 NANDO:2200847 http://nanbyodata.jp/ontology/NANDO_2200847 MONDO:0019012 http://purl.obolibrary.org/obo/MONDO_0019012 http://www.w3.org/2004/02/skos/core#exactMatch カーペンター症候群 Carpenter syndrome Orphanet:65759 https://www.orpha.net/en/disease/detail/65759 NANDO:2200836 http://nanbyodata.jp/ontology/NANDO_2200836 MONDO:0019046 http://purl.obolibrary.org/obo/MONDO_0019046 http://www.w3.org/2004/02/skos/core#exactMatch 先天性大脳白質形成不全症 leukodystrophy Orphanet:68356 https://www.orpha.net/en/disease/detail/68356 NANDO:2200875 http://nanbyodata.jp/ontology/NANDO_2200875 MONDO:0019948 http://purl.obolibrary.org/obo/MONDO_0019948 http://www.w3.org/2004/02/skos/core#exactMatch 還元小体ミオパチー reducing body myopathy Orphanet:97239 https://www.orpha.net/en/disease/detail/97239 NANDO:2200950 http://nanbyodata.jp/ontology/NANDO_2200950 MONDO:0009774 http://purl.obolibrary.org/obo/MONDO_0009774 http://www.w3.org/2004/02/skos/core#closeMatch 総排泄腔外反症 cloacal exstrophy Orphanet:93929 https://www.orpha.net/en/disease/detail/93929 NANDO:2200934 http://nanbyodata.jp/ontology/NANDO_2200934 MONDO:0010913 http://purl.obolibrary.org/obo/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 Orphanet:53035 https://www.orpha.net/en/disease/detail/53035 NANDO:2200948 http://nanbyodata.jp/ontology/NANDO_2200948 MONDO:0018309 http://purl.obolibrary.org/obo/MONDO_0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease Orphanet:388 https://www.orpha.net/en/disease/detail/388 NANDO:2200929 http://nanbyodata.jp/ontology/NANDO_2200929 MONDO:0018646 http://purl.obolibrary.org/obo/MONDO_0018646 http://www.w3.org/2004/02/skos/core#closeMatch 原発性硬化性胆管炎 sclerosing cholangitis Orphanet:447771 https://www.orpha.net/en/disease/detail/447771 NANDO:2200905 http://nanbyodata.jp/ontology/NANDO_2200905 MONDO:0006702 http://purl.obolibrary.org/obo/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 Orphanet:2932 https://www.orpha.net/en/disease/detail/2932 NANDO:2200976 http://nanbyodata.jp/ontology/NANDO_2200976 MONDO:0007043 http://purl.obolibrary.org/obo/MONDO_0007043 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群 Pfeiffer syndrome Orphanet:710 https://www.orpha.net/en/disease/detail/710 NANDO:2200960 http://nanbyodata.jp/ontology/NANDO_2200960 MONDO:0007113 http://purl.obolibrary.org/obo/MONDO_0007113 http://www.w3.org/2004/02/skos/core#exactMatch アンジェルマン症候群 Angelman syndrome Orphanet:72 https://www.orpha.net/en/disease/detail/72 NANDO:2200931 http://nanbyodata.jp/ontology/NANDO_2200931 MONDO:0007318 http://purl.obolibrary.org/obo/MONDO_0007318 http://www.w3.org/2004/02/skos/core#exactMatch アラジール症候群 Alagille syndrome Orphanet:52 https://www.orpha.net/en/disease/detail/52 NANDO:2200961 http://nanbyodata.jp/ontology/NANDO_2200961 MONDO:0007404 http://purl.obolibrary.org/obo/MONDO_0007404 http://www.w3.org/2004/02/skos/core#exactMatch ネコ鳴き症候群 Cri-du-chat syndrome Orphanet:281 https://www.orpha.net/en/disease/detail/281 NANDO:2200959 http://nanbyodata.jp/ontology/NANDO_2200959 MONDO:0007534 http://purl.obolibrary.org/obo/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 Orphanet:116 https://www.orpha.net/en/disease/detail/116 NANDO:2200970 http://nanbyodata.jp/ontology/NANDO_2200970 MONDO:0007542 http://purl.obolibrary.org/obo/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 Orphanet:1328 https://www.orpha.net/en/disease/detail/1328 NANDO:2200968 http://nanbyodata.jp/ontology/NANDO_2200968 MONDO:0007947 http://purl.obolibrary.org/obo/MONDO_0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome Orphanet:284963 https://www.orpha.net/en/disease/detail/284963 NANDO:2200968 http://nanbyodata.jp/ontology/NANDO_2200968 MONDO:0007947 http://purl.obolibrary.org/obo/MONDO_0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome Orphanet:558 https://www.orpha.net/en/disease/detail/558 NANDO:2200942 http://nanbyodata.jp/ontology/NANDO_2200942 MONDO:0008185 http://purl.obolibrary.org/obo/MONDO_0008185 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性慢性膵炎 hereditary chronic pancreatitis Orphanet:676 https://www.orpha.net/en/disease/detail/676 NANDO:2200917 http://nanbyodata.jp/ontology/NANDO_2200917 MONDO:0008280 http://purl.obolibrary.org/obo/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 Orphanet:2869 https://www.orpha.net/en/disease/detail/2869 NANDO:2200954 http://nanbyodata.jp/ontology/NANDO_2200954 MONDO:0008434 http://purl.obolibrary.org/obo/MONDO_0008434 http://www.w3.org/2004/02/skos/core#exactMatch スミス・マゲニス症候群 Smith-Magenis syndrome Orphanet:819 https://www.orpha.net/en/disease/detail/819 NANDO:2200965 http://nanbyodata.jp/ontology/NANDO_2200965 MONDO:0008608 http://purl.obolibrary.org/obo/MONDO_0008608 http://www.w3.org/2004/02/skos/core#exactMatch ダウン症候群 Down syndrome Orphanet:870 https://www.orpha.net/en/disease/detail/870 NANDO:2200962 http://nanbyodata.jp/ontology/NANDO_2200962 MONDO:0008684 http://purl.obolibrary.org/obo/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 Orphanet:280 https://www.orpha.net/en/disease/detail/280 NANDO:2200975 http://nanbyodata.jp/ontology/NANDO_2200975 MONDO:0008803 http://purl.obolibrary.org/obo/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 Orphanet:83 https://www.orpha.net/en/disease/detail/83 NANDO:2200930 http://nanbyodata.jp/ontology/NANDO_2200930 MONDO:0008867 http://purl.obolibrary.org/obo/MONDO_0008867 http://www.w3.org/2004/02/skos/core#exactMatch 胆道閉鎖症 biliary atresia Orphanet:30391 https://www.orpha.net/en/disease/detail/30391 NANDO:2200972 http://nanbyodata.jp/ontology/NANDO_2200972 MONDO:0008965 http://purl.obolibrary.org/obo/MONDO_0008965 http://www.w3.org/2004/02/skos/core#exactMatch CHARGE症候群 CHARGE syndrome Orphanet:138 https://www.orpha.net/en/disease/detail/138 NANDO:2200971 http://nanbyodata.jp/ontology/NANDO_2200971 MONDO:0009026 http://purl.obolibrary.org/obo/MONDO_0009026 http://www.w3.org/2004/02/skos/core#exactMatch コステロ症候群 Costello syndrome Orphanet:3071 https://www.orpha.net/en/disease/detail/3071 NANDO:2200941 http://nanbyodata.jp/ontology/NANDO_2200941 MONDO:0009044 http://purl.obolibrary.org/obo/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 Orphanet:205 https://www.orpha.net/en/disease/detail/205 NANDO:2200908 http://nanbyodata.jp/ontology/NANDO_2200908 MONDO:0009114 http://purl.obolibrary.org/obo/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 Orphanet:35122 https://www.orpha.net/en/disease/detail/35122 NANDO:2200910 http://nanbyodata.jp/ontology/NANDO_2200910 MONDO:0009173 http://purl.obolibrary.org/obo/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 Orphanet:168601 https://www.orpha.net/en/disease/detail/168601 NANDO:2200927 http://nanbyodata.jp/ontology/NANDO_2200927 MONDO:0009275 http://purl.obolibrary.org/obo/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 Orphanet:446 https://www.orpha.net/en/disease/detail/446 NANDO:2200973 http://nanbyodata.jp/ontology/NANDO_2200973 MONDO:0009318 http://purl.obolibrary.org/obo/MONDO_0009318 http://www.w3.org/2004/02/skos/core#exactMatch Hallermann-Streiff症候群 Hallermann-Streiff syndrome Orphanet:2108 https://www.orpha.net/en/disease/detail/2108 NANDO:2200913 http://nanbyodata.jp/ontology/NANDO_2200913 MONDO:0009635 http://purl.obolibrary.org/obo/MONDO_0009635 http://www.w3.org/2004/02/skos/core#exactMatch 微絨毛封入体病 microvillus inclusion disease Orphanet:2290 https://www.orpha.net/en/disease/detail/2290 NANDO:2200906 http://nanbyodata.jp/ontology/NANDO_2200906 MONDO:0009688 http://purl.obolibrary.org/obo/MONDO_0009688 http://www.w3.org/2004/02/skos/core#exactMatch 重症筋無力症 myasthenia gravis Orphanet:589 https://www.orpha.net/en/disease/detail/589 NANDO:2200951 http://nanbyodata.jp/ontology/NANDO_2200951 MONDO:0009774 http://purl.obolibrary.org/obo/MONDO_0009774 http://www.w3.org/2004/02/skos/core#exactMatch 総排泄腔外反症 cloacal exstrophy Orphanet:93929 https://www.orpha.net/en/disease/detail/93929 NANDO:2200899 http://nanbyodata.jp/ontology/NANDO_2200899 MONDO:0009835 http://purl.obolibrary.org/obo/MONDO_0009835 http://www.w3.org/2004/02/skos/core#exactMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis Orphanet:2806 https://www.orpha.net/en/disease/detail/2806 NANDO:2200957 http://nanbyodata.jp/ontology/NANDO_2200957 MONDO:0010193 http://purl.obolibrary.org/obo/MONDO_0010193 http://www.w3.org/2004/02/skos/core#exactMatch ウィーバー症候群 Weaver syndrome Orphanet:3447 https://www.orpha.net/en/disease/detail/3447 NANDO:2200952 http://nanbyodata.jp/ontology/NANDO_2200952 MONDO:0010561 http://purl.obolibrary.org/obo/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 Orphanet:192 https://www.orpha.net/en/disease/detail/192 NANDO:2200924 http://nanbyodata.jp/ontology/NANDO_2200924 MONDO:0010580 http://purl.obolibrary.org/obo/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 Orphanet:37042 https://www.orpha.net/en/disease/detail/37042 NANDO:2200974 http://nanbyodata.jp/ontology/NANDO_2200974 MONDO:0010631 http://purl.obolibrary.org/obo/MONDO_0010631 http://www.w3.org/2004/02/skos/core#exactMatch 色素失調症 incontinentia pigmenti Orphanet:464 https://www.orpha.net/en/disease/detail/464 NANDO:2200909 http://nanbyodata.jp/ontology/NANDO_2200909 MONDO:0011731 http://purl.obolibrary.org/obo/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 Orphanet:35710 https://www.orpha.net/en/disease/detail/35710 NANDO:2200929 http://nanbyodata.jp/ontology/NANDO_2200929 MONDO:0013433 http://purl.obolibrary.org/obo/MONDO_0013433 http://www.w3.org/2004/02/skos/core#exactMatch 原発性硬化性胆管炎 primary sclerosing cholangitis Orphanet:171 https://www.orpha.net/en/disease/detail/171 NANDO:2200912 http://nanbyodata.jp/ontology/NANDO_2200912 MONDO:0013700 http://purl.obolibrary.org/obo/MONDO_0013700 http://www.w3.org/2004/02/skos/core#exactMatch リパーゼ欠損症 pancreatic triacylglycerol lipase deficiency Orphanet:309031 https://www.orpha.net/en/disease/detail/309031 NANDO:2200911 http://nanbyodata.jp/ontology/NANDO_2200911 MONDO:0015169 http://purl.obolibrary.org/obo/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 Orphanet:103907 https://www.orpha.net/en/disease/detail/103907 NANDO:2200943 http://nanbyodata.jp/ontology/NANDO_2200943 MONDO:0015175 http://purl.obolibrary.org/obo/MONDO_0015175 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性膵炎 autoimmune pancreatitis Orphanet:103919 https://www.orpha.net/en/disease/detail/103919 NANDO:2200944 http://nanbyodata.jp/ontology/NANDO_2200944 MONDO:0015183 http://purl.obolibrary.org/obo/MONDO_0015183 http://www.w3.org/2004/02/skos/core#exactMatch 短腸症 short bowel syndrome Orphanet:104008 https://www.orpha.net/en/disease/detail/104008 NANDO:2200967 http://nanbyodata.jp/ontology/NANDO_2200967 MONDO:0015280 http://purl.obolibrary.org/obo/MONDO_0015280 http://www.w3.org/2004/02/skos/core#exactMatch 心顔面皮膚症候群 cardiofaciocutaneous syndrome Orphanet:1340 https://www.orpha.net/en/disease/detail/1340 NANDO:2200977 http://nanbyodata.jp/ontology/NANDO_2200977 MONDO:0015452 http://purl.obolibrary.org/obo/MONDO_0015452 http://www.w3.org/2004/02/skos/core#exactMatch コフィン・シリス症候群 Coffin-Siris syndrome Orphanet:1465 https://www.orpha.net/en/disease/detail/1465 NANDO:2200903 http://nanbyodata.jp/ontology/NANDO_2200903 MONDO:0015584 http://purl.obolibrary.org/obo/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 Orphanet:163703 https://www.orpha.net/en/disease/detail/163703 NANDO:2200933 http://nanbyodata.jp/ontology/NANDO_2200933 MONDO:0015762 http://purl.obolibrary.org/obo/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 Orphanet:172 https://www.orpha.net/en/disease/detail/172 NANDO:2200900 http://nanbyodata.jp/ontology/NANDO_2200900 MONDO:0016019 http://purl.obolibrary.org/obo/MONDO_0016019 http://www.w3.org/2004/02/skos/core#exactMatch ラスムッセン脳炎 Rasmussen subacute encephalitis Orphanet:1929 https://www.orpha.net/en/disease/detail/1929 NANDO:2200958 http://nanbyodata.jp/ontology/NANDO_2200958 MONDO:0016033 http://purl.obolibrary.org/obo/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 Orphanet:199 https://www.orpha.net/en/disease/detail/199 NANDO:2200918 http://nanbyodata.jp/ontology/NANDO_2200918 MONDO:0016063 http://purl.obolibrary.org/obo/MONDO_0016063 http://www.w3.org/2004/02/skos/core#exactMatch カウデン病 Cowden disease Orphanet:201 https://www.orpha.net/en/disease/detail/201 NANDO:2200928 http://nanbyodata.jp/ontology/NANDO_2200928 MONDO:0016264 http://purl.obolibrary.org/obo/MONDO_0016264 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性肝炎 autoimmune hepatitis Orphanet:2137 https://www.orpha.net/en/disease/detail/2137 NANDO:2200956 http://nanbyodata.jp/ontology/NANDO_2200956 MONDO:0016512 http://purl.obolibrary.org/obo/MONDO_0016512 http://www.w3.org/2004/02/skos/core#exactMatch 歌舞伎症候群 Kabuki syndrome Orphanet:2322 https://www.orpha.net/en/disease/detail/2322 NANDO:2200916 http://nanbyodata.jp/ontology/NANDO_2200916 MONDO:0017380 http://purl.obolibrary.org/obo/MONDO_0017380 http://www.w3.org/2004/02/skos/core#exactMatch 若年性ポリポーシス juvenile polyposis syndrome Orphanet:2929 https://www.orpha.net/en/disease/detail/2929 NANDO:2200946 http://nanbyodata.jp/ontology/NANDO_2200946 MONDO:0017574 http://purl.obolibrary.org/obo/MONDO_0017574 http://www.w3.org/2004/02/skos/core#exactMatch 慢性偽性腸閉塞 chronic intestinal pseudoobstruction Orphanet:2978 https://www.orpha.net/en/disease/detail/2978 NANDO:2200964 http://nanbyodata.jp/ontology/NANDO_2200964 MONDO:0018068 http://purl.obolibrary.org/obo/MONDO_0018068 http://www.w3.org/2004/02/skos/core#exactMatch 13トリソミー trisomy 13 Orphanet:3378 https://www.orpha.net/en/disease/detail/3378 NANDO:2200963 http://nanbyodata.jp/ontology/NANDO_2200963 MONDO:0018071 http://purl.obolibrary.org/obo/MONDO_0018071 http://www.w3.org/2004/02/skos/core#exactMatch 18トリソミー症候群 trisomy 18 Orphanet:3380 https://www.orpha.net/en/disease/detail/3380 NANDO:2200914 http://nanbyodata.jp/ontology/NANDO_2200914 MONDO:0018178 http://purl.obolibrary.org/obo/MONDO_0018178 http://www.w3.org/2004/02/skos/core#exactMatch 腸リンパ管拡張症 intestinal lymphangiectasia Orphanet:36204 https://www.orpha.net/en/disease/detail/36204 NANDO:2200901 http://nanbyodata.jp/ontology/NANDO_2200901 MONDO:0018198 http://purl.obolibrary.org/obo/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 Orphanet:363549 https://www.orpha.net/en/disease/detail/363549 NANDO:2200945 http://nanbyodata.jp/ontology/NANDO_2200945 MONDO:0018309 http://purl.obolibrary.org/obo/MONDO_0018309 http://www.w3.org/2004/02/skos/core#exactMatch ヒルシュスプルング病 Hirschsprung disease Orphanet:388 https://www.orpha.net/en/disease/detail/388 NANDO:2200925 http://nanbyodata.jp/ontology/NANDO_2200925 MONDO:0018766 http://purl.obolibrary.org/obo/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 Orphanet:468641 https://www.orpha.net/en/disease/detail/468641 NANDO:2200934 http://nanbyodata.jp/ontology/NANDO_2200934 MONDO:0018808 http://purl.obolibrary.org/obo/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 Orphanet:480520 https://www.orpha.net/en/disease/detail/480520 NANDO:2200936 http://nanbyodata.jp/ontology/NANDO_2200936 MONDO:0018840 http://purl.obolibrary.org/obo/MONDO_0018840 http://www.w3.org/2004/02/skos/core#exactMatch 先天性肝線維症 isolated congenital hepatic fibrosis Orphanet:485426 https://www.orpha.net/en/disease/detail/485426 NANDO:2200969 http://nanbyodata.jp/ontology/NANDO_2200969 MONDO:0018954 http://purl.obolibrary.org/obo/MONDO_0018954 http://www.w3.org/2004/02/skos/core#exactMatch ロイス・ディーツ症候群 Loeys-Dietz syndrome Orphanet:60030 https://www.orpha.net/en/disease/detail/60030 NANDO:2200955 http://nanbyodata.jp/ontology/NANDO_2200955 MONDO:0019188 http://purl.obolibrary.org/obo/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 Orphanet:783 https://www.orpha.net/en/disease/detail/783 NANDO:2200953 http://nanbyodata.jp/ontology/NANDO_2200953 MONDO:0019349 http://purl.obolibrary.org/obo/MONDO_0019349 http://www.w3.org/2004/02/skos/core#exactMatch ソトス症候群 Sotos syndrome Orphanet:821 https://www.orpha.net/en/disease/detail/821 NANDO:2200923 http://nanbyodata.jp/ontology/NANDO_2200923 MONDO:0019787 http://purl.obolibrary.org/obo/MONDO_0019787 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性腸症 autoimmune enteropathy Orphanet:94075 https://www.orpha.net/en/disease/detail/94075 NANDO:2200902 http://nanbyodata.jp/ontology/NANDO_2200902 MONDO:0020640 http://purl.obolibrary.org/obo/MONDO_0020640 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫介在性脳炎・脳症 autoimmune encephalitis Orphanet:622014 https://www.orpha.net/en/disease/detail/622014 NANDO:2200915 http://nanbyodata.jp/ontology/NANDO_2200915 MONDO:0021055 http://purl.obolibrary.org/obo/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 Orphanet:733 https://www.orpha.net/en/disease/detail/733 NANDO:2201042 http://nanbyodata.jp/ontology/NANDO_2201042 MONDO:0005045 http://purl.obolibrary.org/obo/MONDO_0005045 http://www.w3.org/2004/02/skos/core#closeMatch 肥大型心筋症 hypertrophic cardiomyopathy Orphanet:217569 https://www.orpha.net/en/disease/detail/217569 NANDO:2201014 http://nanbyodata.jp/ontology/NANDO_2201014 MONDO:0005508 http://purl.obolibrary.org/obo/MONDO_0005508 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性多発性骨軟骨腫 hereditary multiple osteochondromas Orphanet:321 https://www.orpha.net/en/disease/detail/321 NANDO:2200997 http://nanbyodata.jp/ontology/NANDO_2200997 MONDO:0015611 http://purl.obolibrary.org/obo/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 Orphanet:165 https://www.orpha.net/en/disease/detail/165 NANDO:2201016 http://nanbyodata.jp/ontology/NANDO_2201016 MONDO:0015627 http://purl.obolibrary.org/obo/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 Orphanet:166002 https://www.orpha.net/en/disease/detail/166002 NANDO:2201016 http://nanbyodata.jp/ontology/NANDO_2201016 MONDO:0016068 http://purl.obolibrary.org/obo/MONDO_0016068 http://www.w3.org/2004/02/skos/core#closeMatch 線維性軟骨発生症 fibrochondrogenesis Orphanet:2021 https://www.orpha.net/en/disease/detail/2021 NANDO:2200980 http://nanbyodata.jp/ontology/NANDO_2200980 MONDO:0008006 http://purl.obolibrary.org/obo/MONDO_0008006 http://www.w3.org/2004/02/skos/core#exactMatch メビウス症候群 Mobius syndrome Orphanet:570 https://www.orpha.net/en/disease/detail/570 NANDO:2200983 http://nanbyodata.jp/ontology/NANDO_2200983 MONDO:0008642 http://purl.obolibrary.org/obo/MONDO_0008642 http://www.w3.org/2004/02/skos/core#exactMatch VATER/VATER連合 VACTERL/vater association Orphanet:887 https://www.orpha.net/en/disease/detail/887 NANDO:2200981 http://nanbyodata.jp/ontology/NANDO_2200981 MONDO:0009341 http://purl.obolibrary.org/obo/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 Orphanet:2152 https://www.orpha.net/en/disease/detail/2152 NANDO:2200979 http://nanbyodata.jp/ontology/NANDO_2200979 MONDO:0010035 http://purl.obolibrary.org/obo/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 Orphanet:818 https://www.orpha.net/en/disease/detail/818 NANDO:2200984 http://nanbyodata.jp/ontology/NANDO_2200984 MONDO:0010283 http://purl.obolibrary.org/obo/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 Orphanet:1762 https://www.orpha.net/en/disease/detail/1762 NANDO:2200978 http://nanbyodata.jp/ontology/NANDO_2200978 MONDO:0010731 http://purl.obolibrary.org/obo/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 Orphanet:373 https://www.orpha.net/en/disease/detail/373 NANDO:2200982 http://nanbyodata.jp/ontology/NANDO_2200982 MONDO:0011365 http://purl.obolibrary.org/obo/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 Orphanet:3047 https://www.orpha.net/en/disease/detail/3047 NANDO:2200985 http://nanbyodata.jp/ontology/NANDO_2200985 MONDO:0014757 http://purl.obolibrary.org/obo/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 Orphanet:487796 https://www.orpha.net/en/disease/detail/487796 NANDO:2200987 http://nanbyodata.jp/ontology/NANDO_2200987 MONDO:0017266 http://purl.obolibrary.org/obo/MONDO_0017266 http://www.w3.org/2004/02/skos/core#exactMatch ケラチン症性魚鱗癬 keratinopathic ichthyosis Orphanet:281103 https://www.orpha.net/en/disease/detail/281103 NANDO:2200986 http://nanbyodata.jp/ontology/NANDO_2200986 MONDO:0018910 http://purl.obolibrary.org/obo/MONDO_0018910 http://www.w3.org/2004/02/skos/core#exactMatch 眼皮膚白皮症 oculocutaneous albinism Orphanet:55 https://www.orpha.net/en/disease/detail/55 NANDO:2200988 http://nanbyodata.jp/ontology/NANDO_2200988 MONDO:0020702 http://purl.obolibrary.org/obo/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 Orphanet:312 https://www.orpha.net/en/disease/detail/312 NANDO:2200989 http://nanbyodata.jp/ontology/NANDO_2200989 MONDO:0044742 http://purl.obolibrary.org/obo/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 Orphanet:512103 https://www.orpha.net/en/disease/detail/512103 NANDO:2201032 http://nanbyodata.jp/ontology/NANDO_2201032 MONDO:0002013 http://purl.obolibrary.org/obo/MONDO_0002013 http://www.w3.org/2004/02/skos/core#exactMatch リンパ管腫 lymphangioma Orphanet:2415 https://www.orpha.net/en/disease/detail/2415 NANDO:2201015 http://nanbyodata.jp/ontology/NANDO_2201015 MONDO:0005508 http://purl.obolibrary.org/obo/MONDO_0005508 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性多発性骨軟骨腫 hereditary multiple osteochondromas Orphanet:321 https://www.orpha.net/en/disease/detail/321 NANDO:2201009 http://nanbyodata.jp/ontology/NANDO_2201009 MONDO:0007037 http://purl.obolibrary.org/obo/MONDO_0007037 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨無形成症 Achondroplasia Orphanet:15 https://www.orpha.net/en/disease/detail/15 NANDO:2201027 http://nanbyodata.jp/ontology/NANDO_2201027 MONDO:0007203 http://purl.obolibrary.org/obo/MONDO_0007203 http://www.w3.org/2004/02/skos/core#exactMatch 青色ゴムまり様母斑 blue rubber bleb nevus Orphanet:1059 https://www.orpha.net/en/disease/detail/1059 NANDO:2201026 http://nanbyodata.jp/ontology/NANDO_2201026 MONDO:0007363 http://purl.obolibrary.org/obo/MONDO_0007363 http://www.w3.org/2004/02/skos/core#exactMatch 先天性拘縮性クモ指症 congenital contractural arachnodactyly Orphanet:115 https://www.orpha.net/en/disease/detail/115 NANDO:2201050 http://nanbyodata.jp/ontology/NANDO_2201050 MONDO:0007450 http://purl.obolibrary.org/obo/MONDO_0007450 http://www.w3.org/2004/02/skos/core#exactMatch 神経下垂体性尿崩症 neurohypophyseal diabetes insipidus Orphanet:30925 https://www.orpha.net/en/disease/detail/30925 NANDO:2201020 http://nanbyodata.jp/ontology/NANDO_2201020 MONDO:0007606 http://purl.obolibrary.org/obo/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 Orphanet:337 https://www.orpha.net/en/disease/detail/337 NANDO:2201035 http://nanbyodata.jp/ontology/NANDO_2201035 MONDO:0007708 http://purl.obolibrary.org/obo/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 Orphanet:2330 https://www.orpha.net/en/disease/detail/2330 NANDO:2201010 http://nanbyodata.jp/ontology/NANDO_2201010 MONDO:0007793 http://purl.obolibrary.org/obo/MONDO_0007793 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨低形成症 hypochondroplasia Orphanet:429 https://www.orpha.net/en/disease/detail/429 NANDO:2200990 http://nanbyodata.jp/ontology/NANDO_2200990 MONDO:0007813 http://purl.obolibrary.org/obo/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 Orphanet:455 https://www.orpha.net/en/disease/detail/455 NANDO:2201030 http://nanbyodata.jp/ontology/NANDO_2201030 MONDO:0007864 http://purl.obolibrary.org/obo/MONDO_0007864 http://www.w3.org/2004/02/skos/core#exactMatch 血管骨肥大症候群 angioosteohypertrophic syndrome Orphanet:2346 https://www.orpha.net/en/disease/detail/2346 NANDO:2201030 http://nanbyodata.jp/ontology/NANDO_2201030 MONDO:0007864 http://purl.obolibrary.org/obo/MONDO_0007864 http://www.w3.org/2004/02/skos/core#exactMatch 血管骨肥大症候群 angioosteohypertrophic syndrome Orphanet:90308 https://www.orpha.net/en/disease/detail/90308 NANDO:2201019 http://nanbyodata.jp/ontology/NANDO_2201019 MONDO:0007875 http://purl.obolibrary.org/obo/MONDO_0007875 http://www.w3.org/2004/02/skos/core#exactMatch ラーセン症候群 Larsen syndrome Orphanet:503 https://www.orpha.net/en/disease/detail/503 NANDO:2201053 http://nanbyodata.jp/ontology/NANDO_2201053 MONDO:0008082 http://purl.obolibrary.org/obo/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 Orphanet:247709 https://www.orpha.net/en/disease/detail/247709 NANDO:2201015 http://nanbyodata.jp/ontology/NANDO_2201015 MONDO:0008145 http://purl.obolibrary.org/obo/MONDO_0008145 http://www.w3.org/2004/02/skos/core#exactMatch オリエ病 Ollier disease Orphanet:296 https://www.orpha.net/en/disease/detail/296 NANDO:2201052 http://nanbyodata.jp/ontology/NANDO_2201052 MONDO:0008234 http://purl.obolibrary.org/obo/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 Orphanet:247698 https://www.orpha.net/en/disease/detail/247698 NANDO:2201018 http://nanbyodata.jp/ontology/NANDO_2201018 MONDO:0008322 http://purl.obolibrary.org/obo/MONDO_0008322 http://www.w3.org/2004/02/skos/core#exactMatch 偽性軟骨無形成症 pseudoachondroplasia Orphanet:750 https://www.orpha.net/en/disease/detail/750 NANDO:2201040 http://nanbyodata.jp/ontology/NANDO_2201040 MONDO:0008888 http://purl.obolibrary.org/obo/MONDO_0008888 http://www.w3.org/2004/02/skos/core#exactMatch Williams-Campbell症候群 Williams-Campbell syndrome Orphanet:411501 https://www.orpha.net/en/disease/detail/411501 NANDO:2200992 http://nanbyodata.jp/ontology/NANDO_2200992 MONDO:0009443 http://purl.obolibrary.org/obo/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 Orphanet:457 https://www.orpha.net/en/disease/detail/457 NANDO:2200993 http://nanbyodata.jp/ontology/NANDO_2200993 MONDO:0009735 http://purl.obolibrary.org/obo/MONDO_0009735 http://www.w3.org/2004/02/skos/core#exactMatch ネザートン症候群 Netherton syndrome Orphanet:634 https://www.orpha.net/en/disease/detail/634 NANDO:2201023 http://nanbyodata.jp/ontology/NANDO_2201023 MONDO:0009940 http://purl.obolibrary.org/obo/MONDO_0009940 http://www.w3.org/2004/02/skos/core#exactMatch 濃化異骨症 pycnodysostosis Orphanet:763 https://www.orpha.net/en/disease/detail/763 NANDO:2200994 http://nanbyodata.jp/ontology/NANDO_2200994 MONDO:0010031 http://purl.obolibrary.org/obo/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 Orphanet:816 https://www.orpha.net/en/disease/detail/816 NANDO:2200997 http://nanbyodata.jp/ontology/NANDO_2200997 MONDO:0010155 http://purl.obolibrary.org/obo/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 Orphanet:98907 https://www.orpha.net/en/disease/detail/98907 NANDO:2200998 http://nanbyodata.jp/ontology/NANDO_2200998 MONDO:0010621 http://purl.obolibrary.org/obo/MONDO_0010621 http://www.w3.org/2004/02/skos/core#exactMatch CHILD症候群 CHILD syndrome Orphanet:139 https://www.orpha.net/en/disease/detail/139 NANDO:2201066 http://nanbyodata.jp/ontology/NANDO_2201066 MONDO:0011776 http://purl.obolibrary.org/obo/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 Orphanet:1451 https://www.orpha.net/en/disease/detail/1451 NANDO:2201054 http://nanbyodata.jp/ontology/NANDO_2201054 MONDO:0015277 http://purl.obolibrary.org/obo/MONDO_0015277 http://www.w3.org/2004/02/skos/core#exactMatch 家族性甲状腺髄様癌 medullary thyroid gland carcinoma Orphanet:1332 https://www.orpha.net/en/disease/detail/1332 NANDO:2201033 http://nanbyodata.jp/ontology/NANDO_2201033 MONDO:0015408 http://purl.obolibrary.org/obo/MONDO_0015408 http://www.w3.org/2004/02/skos/core#exactMatch びまん性リンパ管奇形 diffuse lymphatic malformation Orphanet:141209 https://www.orpha.net/en/disease/detail/141209 NANDO:2201008 http://nanbyodata.jp/ontology/NANDO_2201008 MONDO:0015929 http://purl.obolibrary.org/obo/MONDO_0015929 http://www.w3.org/2004/02/skos/core#exactMatch 胸郭不全症候群 thoracic malformation Orphanet:182108 https://www.orpha.net/en/disease/detail/182108 NANDO:2201005 http://nanbyodata.jp/ontology/NANDO_2201005 MONDO:0016535 http://purl.obolibrary.org/obo/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 Orphanet:238468 https://www.orpha.net/en/disease/detail/238468 NANDO:2201004 http://nanbyodata.jp/ontology/NANDO_2201004 MONDO:0016620 http://purl.obolibrary.org/obo/MONDO_0016620 http://www.w3.org/2004/02/skos/core#exactMatch 肥厚性皮膚骨膜症 primary hypertrophic osteoarthropathy Orphanet:248095 https://www.orpha.net/en/disease/detail/248095 NANDO:2201004 http://nanbyodata.jp/ontology/NANDO_2201004 MONDO:0016620 http://purl.obolibrary.org/obo/MONDO_0016620 http://www.w3.org/2004/02/skos/core#exactMatch 肥厚性皮膚骨膜症 primary hypertrophic osteoarthropathy Orphanet:2796 https://www.orpha.net/en/disease/detail/2796 NANDO:2201047 http://nanbyodata.jp/ontology/NANDO_2201047 MONDO:0017148 http://purl.obolibrary.org/obo/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 Orphanet:275777 https://www.orpha.net/en/disease/detail/275777 NANDO:2201013 http://nanbyodata.jp/ontology/NANDO_2201013 MONDO:0017198 http://purl.obolibrary.org/obo/MONDO_0017198 http://www.w3.org/2004/02/skos/core#exactMatch 大理石骨病 osteopetrosis Orphanet:2781 https://www.orpha.net/en/disease/detail/2781 NANDO:2200991 http://nanbyodata.jp/ontology/NANDO_2200991 MONDO:0017265 http://purl.obolibrary.org/obo/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 Orphanet:281097 https://www.orpha.net/en/disease/detail/281097 NANDO:2201006 http://nanbyodata.jp/ontology/NANDO_2201006 MONDO:0018229 http://purl.obolibrary.org/obo/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 Orphanet:36426 https://www.orpha.net/en/disease/detail/36426 NANDO:2201021 http://nanbyodata.jp/ontology/NANDO_2201021 MONDO:0018240 http://purl.obolibrary.org/obo/MONDO_0018240 http://www.w3.org/2004/02/skos/core#exactMatch TRPV4異常症 TRPV4-related bone disorder Orphanet:364820 https://www.orpha.net/en/disease/detail/364820 NANDO:2201012 http://nanbyodata.jp/ontology/NANDO_2201012 MONDO:0018570 http://purl.obolibrary.org/obo/MONDO_0018570 http://www.w3.org/2004/02/skos/core#exactMatch 低ホスファターゼ症 hypophosphatasia Orphanet:436 https://www.orpha.net/en/disease/detail/436 NANDO:2200996 http://nanbyodata.jp/ontology/NANDO_2200996 MONDO:0018781 http://purl.obolibrary.org/obo/MONDO_0018781 http://www.w3.org/2004/02/skos/core#exactMatch KID症候群 KID syndrome Orphanet:477 https://www.orpha.net/en/disease/detail/477 NANDO:2201003 http://nanbyodata.jp/ontology/NANDO_2201003 MONDO:0018975 http://purl.obolibrary.org/obo/MONDO_0018975 http://www.w3.org/2004/02/skos/core#exactMatch 神経線維腫症1型 neurofibromatosis type 1 Orphanet:636 https://www.orpha.net/en/disease/detail/636 NANDO:2201011 http://nanbyodata.jp/ontology/NANDO_2201011 MONDO:0019019 http://purl.obolibrary.org/obo/MONDO_0019019 http://www.w3.org/2004/02/skos/core#exactMatch 骨形成不全症 osteogenesis imperfecta Orphanet:666 https://www.orpha.net/en/disease/detail/666 NANDO:2201031 http://nanbyodata.jp/ontology/NANDO_2201031 MONDO:0019175 http://purl.obolibrary.org/obo/MONDO_0019175 http://www.w3.org/2004/02/skos/core#exactMatch 原発性リンパ浮腫 primary lymphedema Orphanet:77240 https://www.orpha.net/en/disease/detail/77240 NANDO:2201034 http://nanbyodata.jp/ontology/NANDO_2201034 MONDO:0019180 http://purl.obolibrary.org/obo/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 Orphanet:774 https://www.orpha.net/en/disease/detail/774 NANDO:2201056 http://nanbyodata.jp/ontology/NANDO_2201056 MONDO:0019433 http://purl.obolibrary.org/obo/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 Orphanet:85410 https://www.orpha.net/en/disease/detail/85410 NANDO:2201055 http://nanbyodata.jp/ontology/NANDO_2201055 MONDO:0019434 http://purl.obolibrary.org/obo/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 Orphanet:85414 https://www.orpha.net/en/disease/detail/85414 NANDO:2201058 http://nanbyodata.jp/ontology/NANDO_2201058 MONDO:0019435 http://purl.obolibrary.org/obo/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 Orphanet:85435 https://www.orpha.net/en/disease/detail/85435 NANDO:2201060 http://nanbyodata.jp/ontology/NANDO_2201060 MONDO:0019437 http://purl.obolibrary.org/obo/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 Orphanet:85438 https://www.orpha.net/en/disease/detail/85438 NANDO:2201002 http://nanbyodata.jp/ontology/NANDO_2201002 MONDO:0019600 http://purl.obolibrary.org/obo/MONDO_0019600 http://www.w3.org/2004/02/skos/core#exactMatch 色素性乾皮症 xeroderma pigmentosum Orphanet:910 https://www.orpha.net/en/disease/detail/910 NANDO:2201061 http://nanbyodata.jp/ontology/NANDO_2201061 MONDO:0019607 http://purl.obolibrary.org/obo/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 Orphanet:91140 https://www.orpha.net/en/disease/detail/91140 NANDO:2201017 http://nanbyodata.jp/ontology/NANDO_2201017 MONDO:0019701 http://purl.obolibrary.org/obo/MONDO_0019701 http://www.w3.org/2004/02/skos/core#exactMatch 点状軟骨異形成症 chondrodysplasia punctata Orphanet:93442 https://www.orpha.net/en/disease/detail/93442 NANDO:2201007 http://nanbyodata.jp/ontology/NANDO_2201007 MONDO:0019810 http://purl.obolibrary.org/obo/MONDO_0019810 http://www.w3.org/2004/02/skos/core#exactMatch 中毒性表皮壊死症 toxic epidermal necrolysis Orphanet:95455 https://www.orpha.net/en/disease/detail/95455 NANDO:2201016 http://nanbyodata.jp/ontology/NANDO_2201016 MONDO:0022800 http://purl.obolibrary.org/obo/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 Orphanet:93421 https://www.orpha.net/en/disease/detail/93421 NANDO:2201168 http://nanbyodata.jp/ontology/NANDO_2201168 MONDO:0001586 http://purl.obolibrary.org/obo/MONDO_0001586 http://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症1型 mucopolysaccharidosis type 1 Orphanet:579 https://www.orpha.net/en/disease/detail/579 NANDO:2201073 http://nanbyodata.jp/ontology/NANDO_2201073 MONDO:0007669 http://purl.obolibrary.org/obo/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 Orphanet:93111 https://www.orpha.net/en/disease/detail/93111 NANDO:2201067 http://nanbyodata.jp/ontology/NANDO_2201067 MONDO:0008633 http://purl.obolibrary.org/obo/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 Orphanet:575 https://www.orpha.net/en/disease/detail/575 NANDO:2201139 http://nanbyodata.jp/ontology/NANDO_2201139 MONDO:0008723 http://purl.obolibrary.org/obo/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 Orphanet:26793 https://www.orpha.net/en/disease/detail/26793 NANDO:2201153 http://nanbyodata.jp/ontology/NANDO_2201153 MONDO:0009287 http://purl.obolibrary.org/obo/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 Orphanet:79258 https://www.orpha.net/en/disease/detail/79258 NANDO:2201154 http://nanbyodata.jp/ontology/NANDO_2201154 MONDO:0009288 http://purl.obolibrary.org/obo/MONDO_0009288 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病Ib glycogen storage disease Ib Orphanet:79259 https://www.orpha.net/en/disease/detail/79259 NANDO:2201109 http://nanbyodata.jp/ontology/NANDO_2201109 MONDO:0009354 http://purl.obolibrary.org/obo/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 Orphanet:2169 https://www.orpha.net/en/disease/detail/2169 NANDO:2201084 http://nanbyodata.jp/ontology/NANDO_2201084 MONDO:0009377 http://purl.obolibrary.org/obo/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 Orphanet:927 https://www.orpha.net/en/disease/detail/927 NANDO:2201151 http://nanbyodata.jp/ontology/NANDO_2201151 MONDO:0009414 http://purl.obolibrary.org/obo/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 Orphanet:2089 https://www.orpha.net/en/disease/detail/2089 NANDO:2201119 http://nanbyodata.jp/ontology/NANDO_2201119 MONDO:0009520 http://purl.obolibrary.org/obo/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 Orphanet:20 https://www.orpha.net/en/disease/detail/20 NANDO:2201111 http://nanbyodata.jp/ontology/NANDO_2201111 MONDO:0009609 http://purl.obolibrary.org/obo/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 Orphanet:2170 https://www.orpha.net/en/disease/detail/2170 NANDO:2201105 http://nanbyodata.jp/ontology/NANDO_2201105 MONDO:0009613 http://purl.obolibrary.org/obo/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 Orphanet:79310 https://www.orpha.net/en/disease/detail/79310 NANDO:2201106 http://nanbyodata.jp/ontology/NANDO_2201106 MONDO:0009614 http://purl.obolibrary.org/obo/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 Orphanet:79311 https://www.orpha.net/en/disease/detail/79311 NANDO:2201174 http://nanbyodata.jp/ontology/NANDO_2201174 MONDO:0009655 http://purl.obolibrary.org/obo/MONDO_0009655 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3A型 mucopolysaccharidosis type 3A Orphanet:79269 https://www.orpha.net/en/disease/detail/79269 NANDO:2201175 http://nanbyodata.jp/ontology/NANDO_2201175 MONDO:0009656 http://purl.obolibrary.org/obo/MONDO_0009656 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 10型 mucopolysaccharidosis type 3B Orphanet:79270 https://www.orpha.net/en/disease/detail/79270 NANDO:2201075 http://nanbyodata.jp/ontology/NANDO_2201075 MONDO:0009861 http://purl.obolibrary.org/obo/MONDO_0009861 http://www.w3.org/2004/02/skos/core#closeMatch フェニルケトン尿症 phenylketonuria Orphanet:716 https://www.orpha.net/en/disease/detail/716 NANDO:2201165 http://nanbyodata.jp/ontology/NANDO_2201165 MONDO:0009868 http://purl.obolibrary.org/obo/MONDO_0009868 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXb glycogen storage disease IXb Orphanet:79240 https://www.orpha.net/en/disease/detail/79240 NANDO:2201163 http://nanbyodata.jp/ontology/NANDO_2201163 MONDO:0009897 http://purl.obolibrary.org/obo/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 Orphanet:206583 https://www.orpha.net/en/disease/detail/206583 NANDO:2201110 http://nanbyodata.jp/ontology/NANDO_2201110 MONDO:0010183 http://purl.obolibrary.org/obo/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 Orphanet:79284 https://www.orpha.net/en/disease/detail/79284 NANDO:2201107 http://nanbyodata.jp/ontology/NANDO_2201107 MONDO:0010184 http://purl.obolibrary.org/obo/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 Orphanet:79282 https://www.orpha.net/en/disease/detail/79282 NANDO:2201108 http://nanbyodata.jp/ontology/NANDO_2201108 MONDO:0010185 http://purl.obolibrary.org/obo/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 Orphanet:79283 https://www.orpha.net/en/disease/detail/79283 NANDO:2201167 http://nanbyodata.jp/ontology/NANDO_2201167 MONDO:0010362 http://purl.obolibrary.org/obo/MONDO_0010362 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXd glycogen storage disease IXd Orphanet:715 https://www.orpha.net/en/disease/detail/715 NANDO:2201168 http://nanbyodata.jp/ontology/NANDO_2201168 MONDO:0011758 http://purl.obolibrary.org/obo/MONDO_0011758 http://www.w3.org/2004/02/skos/core#closeMatch Hurler症候群 Hurler syndrome Orphanet:93473 https://www.orpha.net/en/disease/detail/93473 NANDO:2201170 http://nanbyodata.jp/ontology/NANDO_2201170 MONDO:0011759 http://purl.obolibrary.org/obo/MONDO_0011759 http://www.w3.org/2004/02/skos/core#exactMatch Hurler-Scheie症候群 Hurler-Scheie syndrome Orphanet:93476 https://www.orpha.net/en/disease/detail/93476 NANDO:2201169 http://nanbyodata.jp/ontology/NANDO_2201169 MONDO:0011760 http://purl.obolibrary.org/obo/MONDO_0011760 http://www.w3.org/2004/02/skos/core#exactMatch Scheie症候群 Scheie syndrome Orphanet:93474 https://www.orpha.net/en/disease/detail/93474 NANDO:2201132 http://nanbyodata.jp/ontology/NANDO_2201132 MONDO:0012136 http://purl.obolibrary.org/obo/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 Orphanet:228308 https://www.orpha.net/en/disease/detail/228308 NANDO:2201147 http://nanbyodata.jp/ontology/NANDO_2201147 MONDO:0012172 http://purl.obolibrary.org/obo/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 Orphanet:746 https://www.orpha.net/en/disease/detail/746 NANDO:2201152 http://nanbyodata.jp/ontology/NANDO_2201152 MONDO:0012693 http://purl.obolibrary.org/obo/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 Orphanet:137625 https://www.orpha.net/en/disease/detail/137625 NANDO:2201133 http://nanbyodata.jp/ontology/NANDO_2201133 MONDO:0015515 http://purl.obolibrary.org/obo/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 Orphanet:157 https://www.orpha.net/en/disease/detail/157 NANDO:2201134 http://nanbyodata.jp/ontology/NANDO_2201134 MONDO:0015515 http://purl.obolibrary.org/obo/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 Orphanet:157 https://www.orpha.net/en/disease/detail/157 NANDO:2201173 http://nanbyodata.jp/ontology/NANDO_2201173 MONDO:0016315 http://purl.obolibrary.org/obo/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 Orphanet:217085 https://www.orpha.net/en/disease/detail/217085 NANDO:2201172 http://nanbyodata.jp/ontology/NANDO_2201172 MONDO:0016316 http://purl.obolibrary.org/obo/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 Orphanet:217093 https://www.orpha.net/en/disease/detail/217093 NANDO:2201171 http://nanbyodata.jp/ontology/NANDO_2201171 MONDO:0016316 http://purl.obolibrary.org/obo/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 Orphanet:217093 https://www.orpha.net/en/disease/detail/217093 NANDO:2201094 http://nanbyodata.jp/ontology/NANDO_2201094 MONDO:0016600 http://purl.obolibrary.org/obo/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 Orphanet:247546 https://www.orpha.net/en/disease/detail/247546 NANDO:2201095 http://nanbyodata.jp/ontology/NANDO_2201095 MONDO:0016601 http://purl.obolibrary.org/obo/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 Orphanet:247573 https://www.orpha.net/en/disease/detail/247573 NANDO:2201078 http://nanbyodata.jp/ontology/NANDO_2201078 MONDO:0017051 http://purl.obolibrary.org/obo/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 Orphanet:268145 https://www.orpha.net/en/disease/detail/268145 NANDO:2201079 http://nanbyodata.jp/ontology/NANDO_2201079 MONDO:0017052 http://purl.obolibrary.org/obo/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 Orphanet:268162 https://www.orpha.net/en/disease/detail/268162 NANDO:2201080 http://nanbyodata.jp/ontology/NANDO_2201080 MONDO:0017053 http://purl.obolibrary.org/obo/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 Orphanet:268173 https://www.orpha.net/en/disease/detail/268173 NANDO:2201081 http://nanbyodata.jp/ontology/NANDO_2201081 MONDO:0017054 http://purl.obolibrary.org/obo/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 Orphanet:268184 https://www.orpha.net/en/disease/detail/268184 NANDO:2201077 http://nanbyodata.jp/ontology/NANDO_2201077 MONDO:0017389 http://purl.obolibrary.org/obo/MONDO_0017389 http://www.w3.org/2004/02/skos/core#exactMatch BH4反応性高Phe血症 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Orphanet:293284 https://www.orpha.net/en/disease/detail/293284 NANDO:2201159 http://nanbyodata.jp/ontology/NANDO_2201159 MONDO:0017695 http://purl.obolibrary.org/obo/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 Orphanet:308621 https://www.orpha.net/en/disease/detail/308621 NANDO:2201160 http://nanbyodata.jp/ontology/NANDO_2201160 MONDO:0017696 http://purl.obolibrary.org/obo/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 Orphanet:308638 https://www.orpha.net/en/disease/detail/308638 NANDO:2201161 http://nanbyodata.jp/ontology/NANDO_2201161 MONDO:0017697 http://purl.obolibrary.org/obo/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 Orphanet:308655 https://www.orpha.net/en/disease/detail/308655 NANDO:2201162 http://nanbyodata.jp/ontology/NANDO_2201162 MONDO:0017699 http://purl.obolibrary.org/obo/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 Orphanet:308684 https://www.orpha.net/en/disease/detail/308684 NANDO:2201068 http://nanbyodata.jp/ontology/NANDO_2201068 MONDO:0018768 http://purl.obolibrary.org/obo/MONDO_0018768 http://www.w3.org/2004/02/skos/core#exactMatch 家族性寒冷蕁麻疹 familial cold autoinflammatory syndrome Orphanet:47045 https://www.orpha.net/en/disease/detail/47045 NANDO:2201242 http://nanbyodata.jp/ontology/NANDO_2201242 MONDO:0008769 http://purl.obolibrary.org/obo/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 Orphanet:228349 https://www.orpha.net/en/disease/detail/228349 NANDO:2201193 http://nanbyodata.jp/ontology/NANDO_2201193 MONDO:0009738 http://purl.obolibrary.org/obo/MONDO_0009738 http://www.w3.org/2004/02/skos/core#closeMatch シアリドーシス2型 sialidosis type 2 Orphanet:87876 https://www.orpha.net/en/disease/detail/87876 NANDO:2201241 http://nanbyodata.jp/ontology/NANDO_2201241 MONDO:0009744 http://purl.obolibrary.org/obo/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 Orphanet:228329 https://www.orpha.net/en/disease/detail/228329 NANDO:2201228 http://nanbyodata.jp/ontology/NANDO_2201228 MONDO:0010088 http://purl.obolibrary.org/obo/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 Orphanet:585 https://www.orpha.net/en/disease/detail/585 NANDO:2201227 http://nanbyodata.jp/ontology/NANDO_2201227 MONDO:0010088 http://purl.obolibrary.org/obo/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 Orphanet:585 https://www.orpha.net/en/disease/detail/585 NANDO:2201259 http://nanbyodata.jp/ontology/NANDO_2201259 MONDO:0016002 http://purl.obolibrary.org/obo/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 Orphanet:1900 https://www.orpha.net/en/disease/detail/1900 NANDO:2201234 http://nanbyodata.jp/ontology/NANDO_2201234 MONDO:0018467 http://purl.obolibrary.org/obo/MONDO_0018467 http://www.w3.org/2004/02/skos/core#closeMatch 腎型シスチン症 nephropathic infantile cystinosis Orphanet:411629 https://www.orpha.net/en/disease/detail/411629 NANDO:2201275 http://nanbyodata.jp/ontology/NANDO_2201275 MONDO:0001713 http://purl.obolibrary.org/obo/MONDO_0001713 http://www.w3.org/2004/02/skos/core#exactMatch 先天性再生不良性貧血 inherited aplastic anemia Orphanet:68383 https://www.orpha.net/en/disease/detail/68383 NANDO:2201264 http://nanbyodata.jp/ontology/NANDO_2201264 MONDO:0007369 http://purl.obolibrary.org/obo/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 Orphanet:79273 https://www.orpha.net/en/disease/detail/79273 NANDO:2201256 http://nanbyodata.jp/ontology/NANDO_2201256 MONDO:0007522 http://purl.obolibrary.org/obo/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 Orphanet:287 https://www.orpha.net/en/disease/detail/287 NANDO:2201257 http://nanbyodata.jp/ontology/NANDO_2201257 MONDO:0007523 http://purl.obolibrary.org/obo/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 Orphanet:285 https://www.orpha.net/en/disease/detail/285 NANDO:2201260 http://nanbyodata.jp/ontology/NANDO_2201260 MONDO:0007525 http://purl.obolibrary.org/obo/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 Orphanet:1899 https://www.orpha.net/en/disease/detail/1899 NANDO:2201263 http://nanbyodata.jp/ontology/NANDO_2201263 MONDO:0008294 http://purl.obolibrary.org/obo/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 Orphanet:79276 https://www.orpha.net/en/disease/detail/79276 NANDO:2201265 http://nanbyodata.jp/ontology/NANDO_2201265 MONDO:0008297 http://purl.obolibrary.org/obo/MONDO_0008297 http://www.w3.org/2004/02/skos/core#exactMatch 異型ポルフィリン症 variegate porphyria Orphanet:79473 https://www.orpha.net/en/disease/detail/79473 NANDO:2201236 http://nanbyodata.jp/ontology/NANDO_2201236 MONDO:0009064 http://purl.obolibrary.org/obo/MONDO_0009064 http://www.w3.org/2004/02/skos/core#exactMatch 眼型シスチン症 ocular cystinosis Orphanet:411641 https://www.orpha.net/en/disease/detail/411641 NANDO:2201235 http://nanbyodata.jp/ontology/NANDO_2201235 MONDO:0009066 http://purl.obolibrary.org/obo/MONDO_0009066 http://www.w3.org/2004/02/skos/core#exactMatch 中間型シスチン症 juvenile nephropathic cystinosis Orphanet:411634 https://www.orpha.net/en/disease/detail/411634 NANDO:2201261 http://nanbyodata.jp/ontology/NANDO_2201261 MONDO:0009161 http://purl.obolibrary.org/obo/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 Orphanet:1901 https://www.orpha.net/en/disease/detail/1901 NANDO:2201196 http://nanbyodata.jp/ontology/NANDO_2201196 MONDO:0009260 http://purl.obolibrary.org/obo/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 Orphanet:79255 https://www.orpha.net/en/disease/detail/79255 NANDO:2201197 http://nanbyodata.jp/ontology/NANDO_2201197 MONDO:0009261 http://purl.obolibrary.org/obo/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 Orphanet:79256 https://www.orpha.net/en/disease/detail/79256 NANDO:2201198 http://nanbyodata.jp/ontology/NANDO_2201198 MONDO:0009262 http://purl.obolibrary.org/obo/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 Orphanet:79257 https://www.orpha.net/en/disease/detail/79257 NANDO:2201210 http://nanbyodata.jp/ontology/NANDO_2201210 MONDO:0009265 http://purl.obolibrary.org/obo/MONDO_0009265 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病I型 Gaucher disease type I Orphanet:77259 https://www.orpha.net/en/disease/detail/77259 NANDO:2201211 http://nanbyodata.jp/ontology/NANDO_2201211 MONDO:0009266 http://purl.obolibrary.org/obo/MONDO_0009266 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病II型 Gaucher disease type II Orphanet:77260 https://www.orpha.net/en/disease/detail/77260 NANDO:2201212 http://nanbyodata.jp/ontology/NANDO_2201212 MONDO:0009267 http://purl.obolibrary.org/obo/MONDO_0009267 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病III型 Gaucher disease type III Orphanet:77261 https://www.orpha.net/en/disease/detail/77261 NANDO:2201190 http://nanbyodata.jp/ontology/NANDO_2201190 MONDO:0009562 http://purl.obolibrary.org/obo/MONDO_0009562 http://www.w3.org/2004/02/skos/core#exactMatch β-マンノシドーシス beta-mannosidosis Orphanet:118 https://www.orpha.net/en/disease/detail/118 NANDO:2201203 http://nanbyodata.jp/ontology/NANDO_2201203 MONDO:0009591 http://purl.obolibrary.org/obo/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 Orphanet:309263 https://www.orpha.net/en/disease/detail/309263 NANDO:2201176 http://nanbyodata.jp/ontology/NANDO_2201176 MONDO:0009657 http://purl.obolibrary.org/obo/MONDO_0009657 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3B型 mucopolysaccharidosis type 3C Orphanet:79271 https://www.orpha.net/en/disease/detail/79271 NANDO:2201177 http://nanbyodata.jp/ontology/NANDO_2201177 MONDO:0009658 http://purl.obolibrary.org/obo/MONDO_0009658 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3C型 mucopolysaccharidosis type 3D Orphanet:79272 https://www.orpha.net/en/disease/detail/79272 NANDO:2201178 http://nanbyodata.jp/ontology/NANDO_2201178 MONDO:0009659 http://purl.obolibrary.org/obo/MONDO_0009659 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4A型 mucopolysaccharidosis type 4A Orphanet:309297 https://www.orpha.net/en/disease/detail/309297 NANDO:2201179 http://nanbyodata.jp/ontology/NANDO_2201179 MONDO:0009660 http://purl.obolibrary.org/obo/MONDO_0009660 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4B型 mucopolysaccharidosis type 4B Orphanet:309310 https://www.orpha.net/en/disease/detail/309310 NANDO:2201192 http://nanbyodata.jp/ontology/NANDO_2201192 MONDO:0009738 http://purl.obolibrary.org/obo/MONDO_0009738 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス2型 sialidosis type 2 Orphanet:87876 https://www.orpha.net/en/disease/detail/87876 NANDO:2201206 http://nanbyodata.jp/ontology/NANDO_2201206 MONDO:0009756 http://purl.obolibrary.org/obo/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 Orphanet:77292 https://www.orpha.net/en/disease/detail/77292 NANDO:2201268 http://nanbyodata.jp/ontology/NANDO_2201268 MONDO:0009902 http://purl.obolibrary.org/obo/MONDO_0009902 http://www.w3.org/2004/02/skos/core#exactMatch 皮膚ポルフィリン症 cutaneous porphyria Orphanet:79277 https://www.orpha.net/en/disease/detail/79277 NANDO:2201200 http://nanbyodata.jp/ontology/NANDO_2201200 MONDO:0010006 http://purl.obolibrary.org/obo/MONDO_0010006 http://www.w3.org/2004/02/skos/core#exactMatch サンドホフ病 Sandhoff disease Orphanet:796 https://www.orpha.net/en/disease/detail/796 NANDO:2201237 http://nanbyodata.jp/ontology/NANDO_2201237 MONDO:0010027 http://purl.obolibrary.org/obo/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 Orphanet:309324 https://www.orpha.net/en/disease/detail/309324 NANDO:2201201 http://nanbyodata.jp/ontology/NANDO_2201201 MONDO:0010099 http://purl.obolibrary.org/obo/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 Orphanet:309246 https://www.orpha.net/en/disease/detail/309246 NANDO:2201199 http://nanbyodata.jp/ontology/NANDO_2201199 MONDO:0010100 http://purl.obolibrary.org/obo/MONDO_0010100 http://www.w3.org/2004/02/skos/core#exactMatch テイ・サックス病 Tay-Sachs disease Orphanet:845 https://www.orpha.net/en/disease/detail/845 NANDO:2201246 http://nanbyodata.jp/ontology/NANDO_2201246 MONDO:0010247 http://purl.obolibrary.org/obo/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 Orphanet:139396 https://www.orpha.net/en/disease/detail/139396 NANDO:2201279 http://nanbyodata.jp/ontology/NANDO_2201279 MONDO:0010389 http://purl.obolibrary.org/obo/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 Orphanet:319623 https://www.orpha.net/en/disease/detail/319623 NANDO:2201269 http://nanbyodata.jp/ontology/NANDO_2201269 MONDO:0010420 http://purl.obolibrary.org/obo/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 Orphanet:443197 https://www.orpha.net/en/disease/detail/443197 NANDO:2201262 http://nanbyodata.jp/ontology/NANDO_2201262 MONDO:0011142 http://purl.obolibrary.org/obo/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 Orphanet:2953 https://www.orpha.net/en/disease/detail/2953 NANDO:2201273 http://nanbyodata.jp/ontology/NANDO_2201273 MONDO:0011399 http://purl.obolibrary.org/obo/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 Orphanet:846 https://www.orpha.net/en/disease/detail/846 NANDO:2201207 http://nanbyodata.jp/ontology/NANDO_2201207 MONDO:0011871 http://purl.obolibrary.org/obo/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 Orphanet:77293 https://www.orpha.net/en/disease/detail/77293 NANDO:2201276 http://nanbyodata.jp/ontology/NANDO_2201276 MONDO:0012197 http://purl.obolibrary.org/obo/MONDO_0012197 http://www.w3.org/2004/02/skos/core#exactMatch 特発性再生不良性貧血 idiopathic aplastic anemia Orphanet:88 https://www.orpha.net/en/disease/detail/88 NANDO:2201267 http://nanbyodata.jp/ontology/NANDO_2201267 MONDO:0015104 http://purl.obolibrary.org/obo/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 Orphanet:101330 https://www.orpha.net/en/disease/detail/101330 NANDO:2201248 http://nanbyodata.jp/ontology/NANDO_2201248 MONDO:0015339 http://purl.obolibrary.org/obo/MONDO_0015339 http://www.w3.org/2004/02/skos/core#exactMatch 副腎脊髄ニューロパチー adrenomyeloneuropathy Orphanet:139399 https://www.orpha.net/en/disease/detail/139399 NANDO:2201277 http://nanbyodata.jp/ontology/NANDO_2201277 MONDO:0015610 http://purl.obolibrary.org/obo/MONDO_0015610 http://www.w3.org/2004/02/skos/core#exactMatch 二次性再生不良性貧血 acquired aplastic anemia Orphanet:164823 https://www.orpha.net/en/disease/detail/164823 NANDO:2201216 http://nanbyodata.jp/ontology/NANDO_2201216 MONDO:0016089 http://purl.obolibrary.org/obo/MONDO_0016089 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型クラッベ病 infantile Krabbe disease Orphanet:206436 https://www.orpha.net/en/disease/detail/206436 NANDO:2201219 http://nanbyodata.jp/ontology/NANDO_2201219 MONDO:0016091 http://purl.obolibrary.org/obo/MONDO_0016091 http://www.w3.org/2004/02/skos/core#exactMatch 成人型クラッベ病 adult Krabbe disease Orphanet:206448 https://www.orpha.net/en/disease/detail/206448 NANDO:2201209 http://nanbyodata.jp/ontology/NANDO_2201209 MONDO:0016310 http://purl.obolibrary.org/obo/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 Orphanet:216986 https://www.orpha.net/en/disease/detail/216986 NANDO:2201258 http://nanbyodata.jp/ontology/NANDO_2201258 MONDO:0017314 http://purl.obolibrary.org/obo/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 Orphanet:286 https://www.orpha.net/en/disease/detail/286 NANDO:2201229 http://nanbyodata.jp/ontology/NANDO_2201229 MONDO:0017694 http://purl.obolibrary.org/obo/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 Orphanet:308552 https://www.orpha.net/en/disease/detail/308552 NANDO:2201202 http://nanbyodata.jp/ontology/NANDO_2201202 MONDO:0017729 http://purl.obolibrary.org/obo/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 Orphanet:309256 https://www.orpha.net/en/disease/detail/309256 NANDO:2201204 http://nanbyodata.jp/ontology/NANDO_2201204 MONDO:0017730 http://purl.obolibrary.org/obo/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 Orphanet:309271 https://www.orpha.net/en/disease/detail/309271 NANDO:2201188 http://nanbyodata.jp/ontology/NANDO_2201188 MONDO:0017732 http://purl.obolibrary.org/obo/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 Orphanet:309282 https://www.orpha.net/en/disease/detail/309282 NANDO:2201189 http://nanbyodata.jp/ontology/NANDO_2201189 MONDO:0017733 http://purl.obolibrary.org/obo/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 Orphanet:309288 https://www.orpha.net/en/disease/detail/309288 NANDO:2201238 http://nanbyodata.jp/ontology/NANDO_2201238 MONDO:0017737 http://purl.obolibrary.org/obo/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 Orphanet:309331 https://www.orpha.net/en/disease/detail/309331 NANDO:2201255 http://nanbyodata.jp/ontology/NANDO_2201255 MONDO:0018328 http://purl.obolibrary.org/obo/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 Orphanet:391665 https://www.orpha.net/en/disease/detail/391665 NANDO:2201232 http://nanbyodata.jp/ontology/NANDO_2201232 MONDO:0019148 http://purl.obolibrary.org/obo/MONDO_0019148 http://www.w3.org/2004/02/skos/core#exactMatch 酸性リパーゼ欠損症 Wolman disease Orphanet:75233 https://www.orpha.net/en/disease/detail/75233 NANDO:2201233 http://nanbyodata.jp/ontology/NANDO_2201233 MONDO:0019149 http://purl.obolibrary.org/obo/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 Orphanet:75234 https://www.orpha.net/en/disease/detail/75234 NANDO:2201191 http://nanbyodata.jp/ontology/NANDO_2201191 MONDO:0019346 http://purl.obolibrary.org/obo/MONDO_0019346 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス1型 sialidosis type 1 Orphanet:812 https://www.orpha.net/en/disease/detail/812 NANDO:2201274 http://nanbyodata.jp/ontology/NANDO_2201274 MONDO:0019402 http://purl.obolibrary.org/obo/MONDO_0019402 http://www.w3.org/2004/02/skos/core#exactMatch βサラセミア beta thalassemia Orphanet:848 https://www.orpha.net/en/disease/detail/848 NANDO:2201270 http://nanbyodata.jp/ontology/NANDO_2201270 MONDO:0019799 http://purl.obolibrary.org/obo/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 Orphanet:95159 https://www.orpha.net/en/disease/detail/95159 NANDO:2201354 http://nanbyodata.jp/ontology/NANDO_2201354 MONDO:0007160 http://purl.obolibrary.org/obo/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 Orphanet:90653 https://www.orpha.net/en/disease/detail/90653 NANDO:2201359 http://nanbyodata.jp/ontology/NANDO_2201359 MONDO:0007322 http://purl.obolibrary.org/obo/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 Orphanet:79346 https://www.orpha.net/en/disease/detail/79346 NANDO:2201347 http://nanbyodata.jp/ontology/NANDO_2201347 MONDO:0007895 http://purl.obolibrary.org/obo/MONDO_0007895 http://www.w3.org/2004/02/skos/core#exactMatch 扁平椎異形成症, Torrance型 platyspondylic dysplasia, Torrance type Orphanet:85166 https://www.orpha.net/en/disease/detail/85166 NANDO:2201364 http://nanbyodata.jp/ontology/NANDO_2201364 MONDO:0007970 http://purl.obolibrary.org/obo/MONDO_0007970 http://www.w3.org/2004/02/skos/core#exactMatch メロレオストーシス melorheostosis Orphanet:2485 https://www.orpha.net/en/disease/detail/2485 NANDO:2201350 http://nanbyodata.jp/ontology/NANDO_2201350 MONDO:0007987 http://purl.obolibrary.org/obo/MONDO_0007987 http://www.w3.org/2004/02/skos/core#exactMatch クニースト骨異形成症 Kniest dysplasia Orphanet:485 https://www.orpha.net/en/disease/detail/485 NANDO:2201386 http://nanbyodata.jp/ontology/NANDO_2201386 MONDO:0008264 http://purl.obolibrary.org/obo/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 Orphanet:34149 https://www.orpha.net/en/disease/detail/34149 NANDO:2201348 http://nanbyodata.jp/ontology/NANDO_2201348 MONDO:0008471 http://purl.obolibrary.org/obo/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 Orphanet:94068 https://www.orpha.net/en/disease/detail/94068 NANDO:2201349 http://nanbyodata.jp/ontology/NANDO_2201349 MONDO:0008476 http://purl.obolibrary.org/obo/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 Orphanet:93346 https://www.orpha.net/en/disease/detail/93346 NANDO:2201345 http://nanbyodata.jp/ontology/NANDO_2201345 MONDO:0008702 http://purl.obolibrary.org/obo/MONDO_0008702 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨無発生症II型 achondrogenesis type II Orphanet:93296 https://www.orpha.net/en/disease/detail/93296 NANDO:2201345 http://nanbyodata.jp/ontology/NANDO_2201345 MONDO:0008703 http://purl.obolibrary.org/obo/MONDO_0008703 http://www.w3.org/2004/02/skos/core#closeMatch 遠位中間肢異形成症2A acromesomelic dysplasia 2A Orphanet:2098 https://www.orpha.net/en/disease/detail/2098 NANDO:2201346 http://nanbyodata.jp/ontology/NANDO_2201346 MONDO:0008703 http://purl.obolibrary.org/obo/MONDO_0008703 http://www.w3.org/2004/02/skos/core#closeMatch 遠位中間肢異形成症2A acromesomelic dysplasia 2A Orphanet:2098 https://www.orpha.net/en/disease/detail/2098 NANDO:2201361 http://nanbyodata.jp/ontology/NANDO_2201361 MONDO:0008974 http://purl.obolibrary.org/obo/MONDO_0008974 http://www.w3.org/2004/02/skos/core#exactMatch Greenberg骨異形成症 Greenberg dysplasia Orphanet:1426 https://www.orpha.net/en/disease/detail/1426 NANDO:2201368 http://nanbyodata.jp/ontology/NANDO_2201368 MONDO:0009031 http://purl.obolibrary.org/obo/MONDO_0009031 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋骨幹異形成症 craniodiaphyseal dysplasia Orphanet:1513 https://www.orpha.net/en/disease/detail/1513 NANDO:2201365 http://nanbyodata.jp/ontology/NANDO_2201365 MONDO:0009138 http://purl.obolibrary.org/obo/MONDO_0009138 http://www.w3.org/2004/02/skos/core#exactMatch 硬化性骨異形成症 dysosteosclerosis Orphanet:1782 https://www.orpha.net/en/disease/detail/1782 NANDO:2201383 http://nanbyodata.jp/ontology/NANDO_2201383 MONDO:0009179 http://purl.obolibrary.org/obo/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 Orphanet:79408 https://www.orpha.net/en/disease/detail/79408 NANDO:2201376 http://nanbyodata.jp/ontology/NANDO_2201376 MONDO:0009181 http://purl.obolibrary.org/obo/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 Orphanet:257 https://www.orpha.net/en/disease/detail/257 NANDO:2201378 http://nanbyodata.jp/ontology/NANDO_2201378 MONDO:0009182 http://purl.obolibrary.org/obo/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 Orphanet:79404 https://www.orpha.net/en/disease/detail/79404 NANDO:2201380 http://nanbyodata.jp/ontology/NANDO_2201380 MONDO:0009183 http://purl.obolibrary.org/obo/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 Orphanet:79403 https://www.orpha.net/en/disease/detail/79403 NANDO:2201385 http://nanbyodata.jp/ontology/NANDO_2201385 MONDO:0009627 http://purl.obolibrary.org/obo/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 Orphanet:2065 https://www.orpha.net/en/disease/detail/2065 NANDO:2201367 http://nanbyodata.jp/ontology/NANDO_2201367 MONDO:0009943 http://purl.obolibrary.org/obo/MONDO_0009943 http://www.w3.org/2004/02/skos/core#exactMatch パイル病 Pyle disease Orphanet:3005 https://www.orpha.net/en/disease/detail/3005 NANDO:2201351 http://nanbyodata.jp/ontology/NANDO_2201351 MONDO:0010078 http://purl.obolibrary.org/obo/MONDO_0010078 http://www.w3.org/2004/02/skos/core#exactMatch 脊椎末梢異形成症 spondyloperipheral dysplasia Orphanet:1856 https://www.orpha.net/en/disease/detail/1856 NANDO:2201301 http://nanbyodata.jp/ontology/NANDO_2201301 MONDO:0010305 http://purl.obolibrary.org/obo/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 Orphanet:52503 https://www.orpha.net/en/disease/detail/52503 NANDO:2201292 http://nanbyodata.jp/ontology/NANDO_2201292 MONDO:0010354 http://purl.obolibrary.org/obo/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 Orphanet:59 https://www.orpha.net/en/disease/detail/59 NANDO:2201356 http://nanbyodata.jp/ontology/NANDO_2201356 MONDO:0010555 http://purl.obolibrary.org/obo/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 Orphanet:79345 https://www.orpha.net/en/disease/detail/79345 NANDO:2201360 http://nanbyodata.jp/ontology/NANDO_2201360 MONDO:0010555 http://purl.obolibrary.org/obo/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 Orphanet:79345 https://www.orpha.net/en/disease/detail/79345 NANDO:2201288 http://nanbyodata.jp/ontology/NANDO_2201288 MONDO:0010714 http://purl.obolibrary.org/obo/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 Orphanet:702 https://www.orpha.net/en/disease/detail/702 NANDO:2201291 http://nanbyodata.jp/ontology/NANDO_2201291 MONDO:0011147 http://purl.obolibrary.org/obo/MONDO_0011147 http://www.w3.org/2004/02/skos/core#exactMatch 18q欠失症候群 chromosome 18q deletion syndrome Orphanet:1600 https://www.orpha.net/en/disease/detail/1600 NANDO:2201291 http://nanbyodata.jp/ontology/NANDO_2201291 MONDO:0011147 http://purl.obolibrary.org/obo/MONDO_0011147 http://www.w3.org/2004/02/skos/core#exactMatch 18q欠失症候群 chromosome 18q deletion syndrome Orphanet:262146 https://www.orpha.net/en/disease/detail/262146 NANDO:2201294 http://nanbyodata.jp/ontology/NANDO_2201294 MONDO:0011449 http://purl.obolibrary.org/obo/MONDO_0011449 http://www.w3.org/2004/02/skos/core#exactMatch サラ病 Salla disease Orphanet:309334 https://www.orpha.net/en/disease/detail/309334 NANDO:2201352 http://nanbyodata.jp/ontology/NANDO_2201352 MONDO:0011496 http://purl.obolibrary.org/obo/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 Orphanet:93279 https://www.orpha.net/en/disease/detail/93279 NANDO:2201297 http://nanbyodata.jp/ontology/NANDO_2201297 MONDO:0011897 http://purl.obolibrary.org/obo/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 Orphanet:137639 https://www.orpha.net/en/disease/detail/137639 NANDO:2201298 http://nanbyodata.jp/ontology/NANDO_2201298 MONDO:0012198 http://purl.obolibrary.org/obo/MONDO_0012198 http://www.w3.org/2004/02/skos/core#exactMatch PCWH症候群 PCWH syndrome Orphanet:163746 https://www.orpha.net/en/disease/detail/163746 NANDO:2201353 http://nanbyodata.jp/ontology/NANDO_2201353 MONDO:0012206 http://purl.obolibrary.org/obo/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 Orphanet:137678 https://www.orpha.net/en/disease/detail/137678 NANDO:2201296 http://nanbyodata.jp/ontology/NANDO_2201296 MONDO:0012514 http://purl.obolibrary.org/obo/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 Orphanet:85163 https://www.orpha.net/en/disease/detail/85163 NANDO:2201293 http://nanbyodata.jp/ontology/NANDO_2201293 MONDO:0012824 http://purl.obolibrary.org/obo/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 Orphanet:280288 https://www.orpha.net/en/disease/detail/280288 NANDO:2201290 http://nanbyodata.jp/ontology/NANDO_2201290 MONDO:0012905 http://purl.obolibrary.org/obo/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 Orphanet:139441 https://www.orpha.net/en/disease/detail/139441 NANDO:2201299 http://nanbyodata.jp/ontology/NANDO_2201299 MONDO:0012996 http://purl.obolibrary.org/obo/MONDO_0012996 http://www.w3.org/2004/02/skos/core#exactMatch AGAT欠損症 AGAT deficiency Orphanet:35704 https://www.orpha.net/en/disease/detail/35704 NANDO:2201300 http://nanbyodata.jp/ontology/NANDO_2201300 MONDO:0012999 http://purl.obolibrary.org/obo/MONDO_0012999 http://www.w3.org/2004/02/skos/core#exactMatch GAMT欠損症 guanidinoacetate methyltransferase deficiency Orphanet:382 https://www.orpha.net/en/disease/detail/382 NANDO:2201366 http://nanbyodata.jp/ontology/NANDO_2201366 MONDO:0015465 http://purl.obolibrary.org/obo/MONDO_0015465 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋骨幹端異形成症 craniometaphyseal dysplasia Orphanet:1522 https://www.orpha.net/en/disease/detail/1522 NANDO:2201289 http://nanbyodata.jp/ontology/NANDO_2201289 MONDO:0017226 http://purl.obolibrary.org/obo/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 Orphanet:280270 https://www.orpha.net/en/disease/detail/280270 NANDO:2201375 http://nanbyodata.jp/ontology/NANDO_2201375 MONDO:0017610 http://purl.obolibrary.org/obo/MONDO_0017610 http://www.w3.org/2004/02/skos/core#closeMatch 単純型表皮水疱症 epidermolysis bullosa simplex Orphanet:304 https://www.orpha.net/en/disease/detail/304 NANDO:2201341 http://nanbyodata.jp/ontology/NANDO_2201341 MONDO:0017610 http://purl.obolibrary.org/obo/MONDO_0017610 http://www.w3.org/2004/02/skos/core#exactMatch 単純型表皮水疱症 epidermolysis bullosa simplex Orphanet:304 https://www.orpha.net/en/disease/detail/304 NANDO:2201342 http://nanbyodata.jp/ontology/NANDO_2201342 MONDO:0017612 http://purl.obolibrary.org/obo/MONDO_0017612 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症 junctional epidermolysis bullosa Orphanet:305 https://www.orpha.net/en/disease/detail/305 NANDO:2201369 http://nanbyodata.jp/ontology/NANDO_2201369 MONDO:0017838 http://purl.obolibrary.org/obo/MONDO_0017838 http://www.w3.org/2004/02/skos/core#exactMatch 硬結性骨化症 sclerosteosis Orphanet:3152 https://www.orpha.net/en/disease/detail/3152 NANDO:2201305 http://nanbyodata.jp/ontology/NANDO_2201305 MONDO:0018065 http://purl.obolibrary.org/obo/MONDO_0018065 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性三角頭蓋 isolated trigonocephaly Orphanet:3366 https://www.orpha.net/en/disease/detail/3366 NANDO:2201295 http://nanbyodata.jp/ontology/NANDO_2201295 MONDO:0018655 http://purl.obolibrary.org/obo/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 Orphanet:447893 https://www.orpha.net/en/disease/detail/447893 NANDO:2201322 http://nanbyodata.jp/ontology/NANDO_2201322 MONDO:0019100 http://purl.obolibrary.org/obo/MONDO_0019100 http://www.w3.org/2004/02/skos/core#exactMatch 視神経脊髄炎 neuromyelitis optica Orphanet:71211 https://www.orpha.net/en/disease/detail/71211 NANDO:2201362 http://nanbyodata.jp/ontology/NANDO_2201362 MONDO:0019408 http://purl.obolibrary.org/obo/MONDO_0019408 http://www.w3.org/2004/02/skos/core#exactMatch Astley-Kendall骨異形成症 Astley-Kendall dysplasia Orphanet:85175 https://www.orpha.net/en/disease/detail/85175 NANDO:2201346 http://nanbyodata.jp/ontology/NANDO_2201346 MONDO:0019669 http://purl.obolibrary.org/obo/MONDO_0019669 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨低発生症 hypochondrogenesis Orphanet:93297 https://www.orpha.net/en/disease/detail/93297 NANDO:2201357 http://nanbyodata.jp/ontology/NANDO_2201357 MONDO:0020603 http://purl.obolibrary.org/obo/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 Orphanet:35173 https://www.orpha.net/en/disease/detail/35173 NANDO:2201317 http://nanbyodata.jp/ontology/NANDO_2201317 MONDO:0021081 http://purl.obolibrary.org/obo/MONDO_0021081 http://www.w3.org/2004/02/skos/core#exactMatch 抗NMDA受容体脳炎 anti-NMDA receptor encephalitis Orphanet:217253 https://www.orpha.net/en/disease/detail/217253 NANDO:2201287 http://nanbyodata.jp/ontology/NANDO_2201287 MONDO:0042727 http://purl.obolibrary.org/obo/MONDO_0042727 http://www.w3.org/2004/02/skos/core#closeMatch 仙尾部奇形腫 sacrococcygeal teratoma Orphanet:494421 https://www.orpha.net/en/disease/detail/494421 NANDO:2201453 http://nanbyodata.jp/ontology/NANDO_2201453 MONDO:0002441 http://purl.obolibrary.org/obo/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 Orphanet:90647 https://www.orpha.net/en/disease/detail/90647 NANDO:2201391 http://nanbyodata.jp/ontology/NANDO_2201391 MONDO:0007029 http://purl.obolibrary.org/obo/MONDO_0007029 http://www.w3.org/2004/02/skos/core#exactMatch 鰓耳腎症候群 branchio-oto-renal syndrome Orphanet:107 https://www.orpha.net/en/disease/detail/107 NANDO:2201392 http://nanbyodata.jp/ontology/NANDO_2201392 MONDO:0007732 http://purl.obolibrary.org/obo/MONDO_0007732 http://www.w3.org/2004/02/skos/core#exactMatch ホルト・オーラム症候群 Holt-Oram syndrome Orphanet:392 https://www.orpha.net/en/disease/detail/392 NANDO:2201454 http://nanbyodata.jp/ontology/NANDO_2201454 MONDO:0008276 http://purl.obolibrary.org/obo/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 Orphanet:329971 https://www.orpha.net/en/disease/detail/329971 NANDO:2201457 http://nanbyodata.jp/ontology/NANDO_2201457 MONDO:0008276 http://purl.obolibrary.org/obo/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 Orphanet:329971 https://www.orpha.net/en/disease/detail/329971 NANDO:2201427 http://nanbyodata.jp/ontology/NANDO_2201427 MONDO:0008546 http://purl.obolibrary.org/obo/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 Orphanet:1860 https://www.orpha.net/en/disease/detail/1860 NANDO:2201428 http://nanbyodata.jp/ontology/NANDO_2201428 MONDO:0008547 http://purl.obolibrary.org/obo/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 Orphanet:93274 https://www.orpha.net/en/disease/detail/93274 NANDO:2201436 http://nanbyodata.jp/ontology/NANDO_2201436 MONDO:0008892 http://purl.obolibrary.org/obo/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 Orphanet:79306 https://www.orpha.net/en/disease/detail/79306 NANDO:2201418 http://nanbyodata.jp/ontology/NANDO_2201418 MONDO:0008999 http://purl.obolibrary.org/obo/MONDO_0008999 http://www.w3.org/2004/02/skos/core#exactMatch コーエン症候群 Cohen syndrome Orphanet:193 https://www.orpha.net/en/disease/detail/193 NANDO:2201476 http://nanbyodata.jp/ontology/NANDO_2201476 MONDO:0009348 http://purl.obolibrary.org/obo/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 Orphanet:391 https://www.orpha.net/en/disease/detail/391 NANDO:2201479 http://nanbyodata.jp/ontology/NANDO_2201479 MONDO:0009431 http://purl.obolibrary.org/obo/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 Orphanet:157215 https://www.orpha.net/en/disease/detail/157215 NANDO:2201429 http://nanbyodata.jp/ontology/NANDO_2201429 MONDO:0009509 http://purl.obolibrary.org/obo/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 Orphanet:98818 https://www.orpha.net/en/disease/detail/98818 NANDO:2201430 http://nanbyodata.jp/ontology/NANDO_2201430 MONDO:0009669 http://purl.obolibrary.org/obo/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 Orphanet:83330 https://www.orpha.net/en/disease/detail/83330 NANDO:2201432 http://nanbyodata.jp/ontology/NANDO_2201432 MONDO:0009672 http://purl.obolibrary.org/obo/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 Orphanet:83419 https://www.orpha.net/en/disease/detail/83419 NANDO:2201431 http://nanbyodata.jp/ontology/NANDO_2201431 MONDO:0009673 http://purl.obolibrary.org/obo/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 Orphanet:83418 https://www.orpha.net/en/disease/detail/83418 NANDO:2201409 http://nanbyodata.jp/ontology/NANDO_2201409 MONDO:0009945 http://purl.obolibrary.org/obo/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 Orphanet:3006 https://www.orpha.net/en/disease/detail/3006 NANDO:2201468 http://nanbyodata.jp/ontology/NANDO_2201468 MONDO:0010030 http://purl.obolibrary.org/obo/MONDO_0010030 http://www.w3.org/2004/02/skos/core#closeMatch シェーグレン症候群 Sjogren syndrome Orphanet:289390 https://www.orpha.net/en/disease/detail/289390 NANDO:2201433 http://nanbyodata.jp/ontology/NANDO_2201433 MONDO:0010056 http://purl.obolibrary.org/obo/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 Orphanet:83420 https://www.orpha.net/en/disease/detail/83420 NANDO:2201404 http://nanbyodata.jp/ontology/NANDO_2201404 MONDO:0010246 http://purl.obolibrary.org/obo/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 Orphanet:101039 https://www.orpha.net/en/disease/detail/101039 NANDO:2201393 http://nanbyodata.jp/ontology/NANDO_2201393 MONDO:0010417 http://purl.obolibrary.org/obo/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 Orphanet:163937 https://www.orpha.net/en/disease/detail/163937 NANDO:2201414 http://nanbyodata.jp/ontology/NANDO_2201414 MONDO:0010476 http://purl.obolibrary.org/obo/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 Orphanet:329284 https://www.orpha.net/en/disease/detail/329284 NANDO:2201397 http://nanbyodata.jp/ontology/NANDO_2201397 MONDO:0010568 http://purl.obolibrary.org/obo/MONDO_0010568 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ症候群 Aicardi syndrome Orphanet:50 https://www.orpha.net/en/disease/detail/50 NANDO:2201475 http://nanbyodata.jp/ontology/NANDO_2201475 MONDO:0010947 http://purl.obolibrary.org/obo/MONDO_0010947 http://www.w3.org/2004/02/skos/core#exactMatch バッド・キアリ症候群 Budd-Chiari syndrome Orphanet:131 https://www.orpha.net/en/disease/detail/131 NANDO:2201437 http://nanbyodata.jp/ontology/NANDO_2201437 MONDO:0011156 http://purl.obolibrary.org/obo/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 Orphanet:79304 https://www.orpha.net/en/disease/detail/79304 NANDO:2201438 http://nanbyodata.jp/ontology/NANDO_2201438 MONDO:0011214 http://purl.obolibrary.org/obo/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 Orphanet:79305 https://www.orpha.net/en/disease/detail/79305 NANDO:2201417 http://nanbyodata.jp/ontology/NANDO_2201417 MONDO:0011518 http://purl.obolibrary.org/obo/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 Orphanet:319182 https://www.orpha.net/en/disease/detail/319182 NANDO:2201447 http://nanbyodata.jp/ontology/NANDO_2201447 MONDO:0012104 http://purl.obolibrary.org/obo/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 Orphanet:79087 https://www.orpha.net/en/disease/detail/79087 NANDO:2201411 http://nanbyodata.jp/ontology/NANDO_2201411 MONDO:0012407 http://purl.obolibrary.org/obo/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 Orphanet:79096 https://www.orpha.net/en/disease/detail/79096 NANDO:2201419 http://nanbyodata.jp/ontology/NANDO_2201419 MONDO:0012589 http://purl.obolibrary.org/obo/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 Orphanet:2896 https://www.orpha.net/en/disease/detail/2896 NANDO:2201389 http://nanbyodata.jp/ontology/NANDO_2201389 MONDO:0013128 http://purl.obolibrary.org/obo/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 Orphanet:217330 https://www.orpha.net/en/disease/detail/217330 NANDO:2201416 http://nanbyodata.jp/ontology/NANDO_2201416 MONDO:0014205 http://purl.obolibrary.org/obo/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 Orphanet:352577 https://www.orpha.net/en/disease/detail/352577 NANDO:2201396 http://nanbyodata.jp/ontology/NANDO_2201396 MONDO:0015286 http://purl.obolibrary.org/obo/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 Orphanet:137 https://www.orpha.net/en/disease/detail/137 NANDO:2201399 http://nanbyodata.jp/ontology/NANDO_2201399 MONDO:0015436 http://purl.obolibrary.org/obo/MONDO_0015436 http://www.w3.org/2004/02/skos/core#exactMatch 環状20番染色体 ring chromosome 20 Orphanet:1444 https://www.orpha.net/en/disease/detail/1444 NANDO:2201462 http://nanbyodata.jp/ontology/NANDO_2201462 MONDO:0015986 http://purl.obolibrary.org/obo/MONDO_0015986 http://www.w3.org/2004/02/skos/core#exactMatch 両側腎無発生 bilateral renal agenesis Orphanet:1848 https://www.orpha.net/en/disease/detail/1848 NANDO:2201440 http://nanbyodata.jp/ontology/NANDO_2201440 MONDO:0016129 http://purl.obolibrary.org/obo/MONDO_0016129 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性胃腸炎 eosinophilic gastroenteritis Orphanet:2070 https://www.orpha.net/en/disease/detail/2070 NANDO:2201426 http://nanbyodata.jp/ontology/NANDO_2201426 MONDO:0017042 http://purl.obolibrary.org/obo/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 Orphanet:2655 https://www.orpha.net/en/disease/detail/2655 NANDO:2201408 http://nanbyodata.jp/ontology/NANDO_2201408 MONDO:0017385 http://purl.obolibrary.org/obo/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 Orphanet:293181 https://www.orpha.net/en/disease/detail/293181 NANDO:2201480 http://nanbyodata.jp/ontology/NANDO_2201480 MONDO:0018124 http://purl.obolibrary.org/obo/MONDO_0018124 http://www.w3.org/2004/02/skos/core#exactMatch 腫瘍性骨軟化症 Oncogenic osteomalacia Orphanet:352540 https://www.orpha.net/en/disease/detail/352540 NANDO:2201463 http://nanbyodata.jp/ontology/NANDO_2201463 MONDO:0018309 http://purl.obolibrary.org/obo/MONDO_0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease Orphanet:388 https://www.orpha.net/en/disease/detail/388 NANDO:2201464 http://nanbyodata.jp/ontology/NANDO_2201464 MONDO:0018309 http://purl.obolibrary.org/obo/MONDO_0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease Orphanet:388 https://www.orpha.net/en/disease/detail/388 NANDO:2201465 http://nanbyodata.jp/ontology/NANDO_2201465 MONDO:0018309 http://purl.obolibrary.org/obo/MONDO_0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease Orphanet:388 https://www.orpha.net/en/disease/detail/388 NANDO:2201466 http://nanbyodata.jp/ontology/NANDO_2201466 MONDO:0018309 http://purl.obolibrary.org/obo/MONDO_0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease Orphanet:388 https://www.orpha.net/en/disease/detail/388 NANDO:2201467 http://nanbyodata.jp/ontology/NANDO_2201467 MONDO:0018309 http://purl.obolibrary.org/obo/MONDO_0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease Orphanet:388 https://www.orpha.net/en/disease/detail/388 NANDO:2201441 http://nanbyodata.jp/ontology/NANDO_2201441 MONDO:0018468 http://purl.obolibrary.org/obo/MONDO_0018468 http://www.w3.org/2004/02/skos/core#exactMatch Proton pump inhibitor-responsive esophageal eosinophilia proton-pump inhibitor-responsive esophageal eosinophilia Orphanet:411696 https://www.orpha.net/en/disease/detail/411696 NANDO:2201391 http://nanbyodata.jp/ontology/NANDO_2201391 MONDO:0018878 http://purl.obolibrary.org/obo/MONDO_0018878 http://www.w3.org/2004/02/skos/core#closeMatch 鰓耳症候群 branchiootic syndrome Orphanet:52429 https://www.orpha.net/en/disease/detail/52429 NANDO:2201444 http://nanbyodata.jp/ontology/NANDO_2201444 MONDO:0018883 http://purl.obolibrary.org/obo/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 Orphanet:528 https://www.orpha.net/en/disease/detail/528 NANDO:2201458 http://nanbyodata.jp/ontology/NANDO_2201458 MONDO:0019190 http://purl.obolibrary.org/obo/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 Orphanet:79076 https://www.orpha.net/en/disease/detail/79076 NANDO:2201445 http://nanbyodata.jp/ontology/NANDO_2201445 MONDO:0019193 http://purl.obolibrary.org/obo/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 Orphanet:79086 https://www.orpha.net/en/disease/detail/79086 NANDO:2201406 http://nanbyodata.jp/ontology/NANDO_2201406 MONDO:0019487 http://purl.obolibrary.org/obo/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 Orphanet:86911 https://www.orpha.net/en/disease/detail/86911 NANDO:2201421 http://nanbyodata.jp/ontology/NANDO_2201421 MONDO:0019562 http://purl.obolibrary.org/obo/MONDO_0019562 http://www.w3.org/2004/02/skos/core#closeMatch 限局性強皮症 localized scleroderma Orphanet:90289 https://www.orpha.net/en/disease/detail/90289 NANDO:2201420 http://nanbyodata.jp/ontology/NANDO_2201420 MONDO:0019562 http://purl.obolibrary.org/obo/MONDO_0019562 http://www.w3.org/2004/02/skos/core#exactMatch 限局性強皮症 localized scleroderma Orphanet:90289 https://www.orpha.net/en/disease/detail/90289 NANDO:2201461 http://nanbyodata.jp/ontology/NANDO_2201461 MONDO:0019636 http://purl.obolibrary.org/obo/MONDO_0019636 http://www.w3.org/2004/02/skos/core#exactMatch 一側腎無形成 renal agenesis, unilateral Orphanet:93100 https://www.orpha.net/en/disease/detail/93100 NANDO:2201446 http://nanbyodata.jp/ontology/NANDO_2201446 MONDO:0020088 http://purl.obolibrary.org/obo/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 Orphanet:98306 https://www.orpha.net/en/disease/detail/98306 NANDO:2201470 http://nanbyodata.jp/ontology/NANDO_2201470 MONDO:0020099 http://purl.obolibrary.org/obo/MONDO_0020099 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性鉄芽球性貧血 inherited sideroblastic anemia Orphanet:98362 https://www.orpha.net/en/disease/detail/98362 NANDO:2201394 http://nanbyodata.jp/ontology/NANDO_2201394 MONDO:0020492 http://purl.obolibrary.org/obo/MONDO_0020492 http://www.w3.org/2004/02/skos/core#exactMatch 片側巨脳症 hemimegalencephaly Orphanet:99802 https://www.orpha.net/en/disease/detail/99802 NANDO:2201388 http://nanbyodata.jp/ontology/NANDO_2201388 MONDO:0020726 http://purl.obolibrary.org/obo/MONDO_0020726 http://www.w3.org/2004/02/skos/core#exactMatch ADTKD-MUC1 tubulointerstitial kidney disease, autosomal dominant, 2 Orphanet:88949 https://www.orpha.net/en/disease/detail/88949 NANDO:2201398 http://nanbyodata.jp/ontology/NANDO_2201398 MONDO:0100062 http://purl.obolibrary.org/obo/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 Orphanet:1934 https://www.orpha.net/en/disease/detail/1934 NANDO:2201435 http://nanbyodata.jp/ontology/NANDO_2201435 MONDO:0100164 http://purl.obolibrary.org/obo/MONDO_0100164 http://www.w3.org/2004/02/skos/core#exactMatch 永続性新生児糖尿病 permanent neonatal diabetes mellitus Orphanet:99885 https://www.orpha.net/en/disease/detail/99885 NANDO:1201115 http://nanbyodata.jp/ontology/NANDO_1201115 MONDO:0013775 http://purl.obolibrary.org/obo/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 Orphanet:436169 https://www.orpha.net/en/disease/detail/436169 NANDO:2100307 http://nanbyodata.jp/ontology/NANDO_2100307 MONDO:0000995 http://purl.obolibrary.org/obo/MONDO_0000995 http://www.w3.org/2004/02/skos/core#exactMatch 家族性周期性四肢麻痺 familial periodic paralysis Orphanet:371433 https://www.orpha.net/en/disease/detail/371433 NANDO:2201512 http://nanbyodata.jp/ontology/NANDO_2201512 MONDO:0008195 http://purl.obolibrary.org/obo/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 Orphanet:684 https://www.orpha.net/en/disease/detail/684 NANDO:2201515 http://nanbyodata.jp/ontology/NANDO_2201515 MONDO:0008223 http://purl.obolibrary.org/obo/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 Orphanet:681 https://www.orpha.net/en/disease/detail/681 NANDO:2201514 http://nanbyodata.jp/ontology/NANDO_2201514 MONDO:0008224 http://purl.obolibrary.org/obo/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 Orphanet:682 https://www.orpha.net/en/disease/detail/682 NANDO:1201109 http://nanbyodata.jp/ontology/NANDO_1201109 MONDO:0008723 http://purl.obolibrary.org/obo/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 Orphanet:26793 https://www.orpha.net/en/disease/detail/26793 NANDO:2201530 http://nanbyodata.jp/ontology/NANDO_2201530 MONDO:0009039 http://purl.obolibrary.org/obo/MONDO_0009039 http://www.w3.org/2004/02/skos/core#exactMatch バラー・ゲロルト症候群 Baller-Gerold syndrome Orphanet:1225 https://www.orpha.net/en/disease/detail/1225 NANDO:2201509 http://nanbyodata.jp/ontology/NANDO_2201509 MONDO:0009710 http://purl.obolibrary.org/obo/MONDO_0009710 http://www.w3.org/2004/02/skos/core#exactMatch トムゼン・ベッカー病 Thomsen and Becker disease Orphanet:614 https://www.orpha.net/en/disease/detail/614 NANDO:1201114 http://nanbyodata.jp/ontology/NANDO_1201114 MONDO:0009883 http://purl.obolibrary.org/obo/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 Orphanet:79 https://www.orpha.net/en/disease/detail/79 NANDO:2201531 http://nanbyodata.jp/ontology/NANDO_2201531 MONDO:0009955 http://purl.obolibrary.org/obo/MONDO_0009955 http://www.w3.org/2004/02/skos/core#exactMatch ラパデリノ症候群 rapadilino syndrome Orphanet:3021 https://www.orpha.net/en/disease/detail/3021 NANDO:2201527 http://nanbyodata.jp/ontology/NANDO_2201527 MONDO:0010002 http://purl.obolibrary.org/obo/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 Orphanet:2909 https://www.orpha.net/en/disease/detail/2909 NANDO:1201116 http://nanbyodata.jp/ontology/NANDO_1201116 MONDO:0010645 http://purl.obolibrary.org/obo/MONDO_0010645 http://www.w3.org/2004/02/skos/core#exactMatch 眼腎脳症候群 oculocerebrorenal syndrome Orphanet:534 https://www.orpha.net/en/disease/detail/534 NANDO:1201113 http://nanbyodata.jp/ontology/NANDO_1201113 MONDO:0013227 http://purl.obolibrary.org/obo/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 Orphanet:465 https://www.orpha.net/en/disease/detail/465 NANDO:2201499 http://nanbyodata.jp/ontology/NANDO_2201499 MONDO:0017096 http://purl.obolibrary.org/obo/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 Orphanet:268973 https://www.orpha.net/en/disease/detail/268973 NANDO:2201500 http://nanbyodata.jp/ontology/NANDO_2201500 MONDO:0017097 http://purl.obolibrary.org/obo/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 Orphanet:268980 https://www.orpha.net/en/disease/detail/268980 NANDO:2201501 http://nanbyodata.jp/ontology/NANDO_2201501 MONDO:0017098 http://purl.obolibrary.org/obo/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 Orphanet:268987 https://www.orpha.net/en/disease/detail/268987 NANDO:2201502 http://nanbyodata.jp/ontology/NANDO_2201502 MONDO:0017101 http://purl.obolibrary.org/obo/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 Orphanet:269001 https://www.orpha.net/en/disease/detail/269001 NANDO:2201503 http://nanbyodata.jp/ontology/NANDO_2201503 MONDO:0017102 http://purl.obolibrary.org/obo/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 Orphanet:269008 https://www.orpha.net/en/disease/detail/269008 NANDO:2201488 http://nanbyodata.jp/ontology/NANDO_2201488 MONDO:0017987 http://purl.obolibrary.org/obo/MONDO_0017987 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄空洞症 syringomyelia Orphanet:3280 https://www.orpha.net/en/disease/detail/3280 NANDO:2201513 http://nanbyodata.jp/ontology/NANDO_2201513 MONDO:0018959 http://purl.obolibrary.org/obo/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 Orphanet:612 https://www.orpha.net/en/disease/detail/612 NANDO:2201498 http://nanbyodata.jp/ontology/NANDO_2201498 MONDO:0019009 http://purl.obolibrary.org/obo/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 Orphanet:65683 https://www.orpha.net/en/disease/detail/65683 NANDO:2201526 http://nanbyodata.jp/ontology/NANDO_2201526 MONDO:0002457 http://purl.obolibrary.org/obo/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 Orphanet:861 https://www.orpha.net/en/disease/detail/861 NANDO:1201107 http://nanbyodata.jp/ontology/NANDO_1201107 MONDO:0008215 http://purl.obolibrary.org/obo/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 Orphanet:99027 https://www.orpha.net/en/disease/detail/99027 NANDO:2201516 http://nanbyodata.jp/ontology/NANDO_2201516 MONDO:0008222 http://purl.obolibrary.org/obo/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 Orphanet:37553 https://www.orpha.net/en/disease/detail/37553 NANDO:1201117 http://nanbyodata.jp/ontology/NANDO_1201117 MONDO:0008222 http://purl.obolibrary.org/obo/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 Orphanet:37553 https://www.orpha.net/en/disease/detail/37553 NANDO:2201517 http://nanbyodata.jp/ontology/NANDO_2201517 MONDO:0008586 http://purl.obolibrary.org/obo/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 Orphanet:1199 https://www.orpha.net/en/disease/detail/1199 NANDO:2201523 http://nanbyodata.jp/ontology/NANDO_2201523 MONDO:0016779 http://purl.obolibrary.org/obo/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 Orphanet:254519 https://www.orpha.net/en/disease/detail/254519 NANDO:2201525 http://nanbyodata.jp/ontology/NANDO_2201525 MONDO:0014243 http://purl.obolibrary.org/obo/MONDO_0014243 http://www.w3.org/2004/02/skos/core#exactMatch Shaaf-Yang 症候群 Schaaf-Yang syndrome Orphanet:398069 https://www.orpha.net/en/disease/detail/398069 NANDO:2201524 http://nanbyodata.jp/ontology/NANDO_2201524 MONDO:0014358 http://purl.obolibrary.org/obo/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 Orphanet:412069 https://www.orpha.net/en/disease/detail/412069 NANDO:1201110 http://nanbyodata.jp/ontology/NANDO_1201110 MONDO:0014405 http://purl.obolibrary.org/obo/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 Orphanet:425120 https://www.orpha.net/en/disease/detail/425120 NANDO:2201487 http://nanbyodata.jp/ontology/NANDO_2201487 MONDO:0014405 http://purl.obolibrary.org/obo/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 Orphanet:425120 https://www.orpha.net/en/disease/detail/425120 NANDO:1201108 http://nanbyodata.jp/ontology/NANDO_1201108 MONDO:0014512 http://purl.obolibrary.org/obo/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 Orphanet:438216 https://www.orpha.net/en/disease/detail/438216 NANDO:2201528 http://nanbyodata.jp/ontology/NANDO_2201528 MONDO:0016368 http://purl.obolibrary.org/obo/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 Orphanet:221008 https://www.orpha.net/en/disease/detail/221008 NANDO:2201529 http://nanbyodata.jp/ontology/NANDO_2201529 MONDO:0016369 http://purl.obolibrary.org/obo/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 Orphanet:221016 https://www.orpha.net/en/disease/detail/221016 NANDO:2201533 http://nanbyodata.jp/ontology/NANDO_2201533 MONDO:0020509 http://purl.obolibrary.org/obo/MONDO_0020509 http://www.w3.org/2004/02/skos/core#exactMatch 二次性脊髄空洞症 secondary syringomyelia Orphanet:99857 https://www.orpha.net/en/disease/detail/99857 NANDO:1201120 http://nanbyodata.jp/ontology/NANDO_1201120 MONDO:0007803 http://purl.obolibrary.org/obo/MONDO_0007803 http://www.w3.org/2004/02/skos/core#closeMatch 多系統萎縮症 multiple system atrophy Orphanet:102 https://www.orpha.net/en/disease/detail/102 NANDO:1201158 http://nanbyodata.jp/ontology/NANDO_1201158 MONDO:0007947 http://purl.obolibrary.org/obo/MONDO_0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome Orphanet:284963 https://www.orpha.net/en/disease/detail/284963 NANDO:1201158 http://nanbyodata.jp/ontology/NANDO_1201158 MONDO:0007947 http://purl.obolibrary.org/obo/MONDO_0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome Orphanet:558 https://www.orpha.net/en/disease/detail/558 NANDO:1201132 http://nanbyodata.jp/ontology/NANDO_1201132 MONDO:0008054 http://purl.obolibrary.org/obo/MONDO_0008054 http://www.w3.org/2004/02/skos/core#exactMatch 若年性皮膚筋炎 juvenile dermatomyositis Orphanet:93672 https://www.orpha.net/en/disease/detail/93672 NANDO:1201150 http://nanbyodata.jp/ontology/NANDO_1201150 MONDO:0010476 http://purl.obolibrary.org/obo/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 Orphanet:329284 https://www.orpha.net/en/disease/detail/329284 NANDO:1201152 http://nanbyodata.jp/ontology/NANDO_1201152 MONDO:0011426 http://purl.obolibrary.org/obo/MONDO_0011426 http://www.w3.org/2004/02/skos/core#exactMatch NBIA4 aceruloplasminemia Orphanet:48818 https://www.orpha.net/en/disease/detail/48818 NANDO:1201159 http://nanbyodata.jp/ontology/NANDO_1201159 MONDO:0018954 http://purl.obolibrary.org/obo/MONDO_0018954 http://www.w3.org/2004/02/skos/core#exactMatch ロイス・ディーツ症候群 Loeys-Dietz syndrome Orphanet:60030 https://www.orpha.net/en/disease/detail/60030 NANDO:1201121 http://nanbyodata.jp/ontology/NANDO_1201121 MONDO:0019438 http://purl.obolibrary.org/obo/MONDO_0019438 http://www.w3.org/2004/02/skos/core#exactMatch ALミロイドーシス AL amyloidosis Orphanet:85443 https://www.orpha.net/en/disease/detail/85443 NANDO:1201133 http://nanbyodata.jp/ontology/NANDO_1201133 MONDO:0019734 http://purl.obolibrary.org/obo/MONDO_0019734 http://www.w3.org/2004/02/skos/core#exactMatch 若年性多発性筋炎 juvenile polymyositis Orphanet:93568 https://www.orpha.net/en/disease/detail/93568 NANDO:1201155 http://nanbyodata.jp/ontology/NANDO_1201155 MONDO:0024457 http://purl.obolibrary.org/obo/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 Orphanet:35069 https://www.orpha.net/en/disease/detail/35069 NANDO:1201165 http://nanbyodata.jp/ontology/NANDO_1201165 MONDO:0008998 http://purl.obolibrary.org/obo/MONDO_0008998 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群3型 Cockayne syndrome type 3 Orphanet:90324 https://www.orpha.net/en/disease/detail/90324 NANDO:1201154 http://nanbyodata.jp/ontology/NANDO_1201154 MONDO:0009419 http://purl.obolibrary.org/obo/MONDO_0009419 http://www.w3.org/2004/02/skos/core#exactMatch Woodhouse-Sakati症候群 Woodhouse-Sakati syndrome Orphanet:3464 https://www.orpha.net/en/disease/detail/3464 NANDO:1201166 http://nanbyodata.jp/ontology/NANDO_1201166 MONDO:0016354 http://purl.obolibrary.org/obo/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 Orphanet:220295 https://www.orpha.net/en/disease/detail/220295 NANDO:1201153 http://nanbyodata.jp/ontology/NANDO_1201153 MONDO:0011706 http://purl.obolibrary.org/obo/MONDO_0011706 http://www.w3.org/2004/02/skos/core#exactMatch クフォー・ラケブ症候群 Kufor-Rakeb syndrome Orphanet:306674 https://www.orpha.net/en/disease/detail/306674 NANDO:1201143 http://nanbyodata.jp/ontology/NANDO_1201143 MONDO:0014019 http://purl.obolibrary.org/obo/MONDO_0014019 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア24 dystonia 24 Orphanet:420485 https://www.orpha.net/en/disease/detail/420485 NANDO:1201144 http://nanbyodata.jp/ontology/NANDO_1201144 MONDO:0014033 http://purl.obolibrary.org/obo/MONDO_0014033 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア25 dystonia 25 Orphanet:329466 https://www.orpha.net/en/disease/detail/329466 NANDO:1201151 http://nanbyodata.jp/ontology/NANDO_1201151 MONDO:0014290 http://purl.obolibrary.org/obo/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 Orphanet:397725 https://www.orpha.net/en/disease/detail/397725 NANDO:1201146 http://nanbyodata.jp/ontology/NANDO_1201146 MONDO:0014627 http://purl.obolibrary.org/obo/MONDO_0014627 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア27 dystonia 27 Orphanet:464440 https://www.orpha.net/en/disease/detail/464440 NANDO:1201148 http://nanbyodata.jp/ontology/NANDO_1201148 MONDO:0015003 http://purl.obolibrary.org/obo/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 Orphanet:508093 https://www.orpha.net/en/disease/detail/508093 NANDO:1201147 http://nanbyodata.jp/ontology/NANDO_1201147 MONDO:0015004 http://purl.obolibrary.org/obo/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 Orphanet:589618 https://www.orpha.net/en/disease/detail/589618 NANDO:1201125 http://nanbyodata.jp/ontology/NANDO_1201125 MONDO:0016533 http://purl.obolibrary.org/obo/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 Orphanet:238269 https://www.orpha.net/en/disease/detail/238269 NANDO:1201122 http://nanbyodata.jp/ontology/NANDO_1201122 MONDO:0018613 http://purl.obolibrary.org/obo/MONDO_0018613 http://www.w3.org/2004/02/skos/core#exactMatch AHアミロイドーシス AH amyloidosis Orphanet:442582 https://www.orpha.net/en/disease/detail/442582 NANDO:1201174 http://nanbyodata.jp/ontology/NANDO_1201174 MONDO:0018804 http://purl.obolibrary.org/obo/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 Orphanet:480491 https://www.orpha.net/en/disease/detail/480491 NANDO:1201163 http://nanbyodata.jp/ontology/NANDO_1201163 MONDO:0019569 http://purl.obolibrary.org/obo/MONDO_0019569 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群1型 Cockayne syndrome type 1 Orphanet:90321 https://www.orpha.net/en/disease/detail/90321 NANDO:1201164 http://nanbyodata.jp/ontology/NANDO_1201164 MONDO:0019570 http://purl.obolibrary.org/obo/MONDO_0019570 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群2型 Cockayne syndrome type 2 Orphanet:90322 https://www.orpha.net/en/disease/detail/90322 NANDO:1201160 http://nanbyodata.jp/ontology/NANDO_1201160 MONDO:0019659 http://purl.obolibrary.org/obo/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 Orphanet:93258 https://www.orpha.net/en/disease/detail/93258 NANDO:1201161 http://nanbyodata.jp/ontology/NANDO_1201161 MONDO:0019660 http://purl.obolibrary.org/obo/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 Orphanet:93259 https://www.orpha.net/en/disease/detail/93259 NANDO:1201162 http://nanbyodata.jp/ontology/NANDO_1201162 MONDO:0019661 http://purl.obolibrary.org/obo/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 Orphanet:93260 https://www.orpha.net/en/disease/detail/93260