nando_id nandoUri nando_label_ja nando_label_en mondo_id mondoUri property mondo_label_ja mondo_label_en orphanetid orphaneturi NANDO:1200173 http://nanbyodata.jp/ontology/NANDO_1200173 ミトコンドリア病 Mitochondrial diseases 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:1200288 http://nanbyodata.jp/ontology/NANDO_1200288 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy 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:1200293 http://nanbyodata.jp/ontology/NANDO_1200293 特発性拘束型心筋症 Idiopathic restrictive cardiomyopathy 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:1200385 http://nanbyodata.jp/ontology/NANDO_1200385 下垂体ゴナドトロピン産生腫瘍 Growth hormone secreting pituitary adenoma 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 下垂体性成長ホルモン分泌亢進症 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone 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:1200214 http://nanbyodata.jp/ontology/NANDO_1200214 遺伝性トランスサイレチンアミロイドーシス Hereditary Transthyretin Amyloidosis 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:1200524 http://nanbyodata.jp/ontology/NANDO_1200524 急性発症ジストニア・パーキンソニズム Rapid-onset dystonia-parkinsonism 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:1200218 http://nanbyodata.jp/ontology/NANDO_1200218 縁取り空胞を伴う遠位型ミオパチー Distal myopathy with rimmed vacuoles 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:1200560 http://nanbyodata.jp/ontology/NANDO_1200560 中隔視神経形成異常症／ドモルシア症候群 Septo-optic dysplasia / De Morsier syndrome 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:1200153 http://nanbyodata.jp/ontology/NANDO_1200153 遅発乳児型神経セロイドリポフスチン症 Late infantile neuronal ceroid lipofuscinosis MONDO:0008769 http://purl.obolibrary.org/obo/MONDO_0008769 http://www.w3.org/2004/02/skos/core#closeMatch 神経セロイドリポフスチン症2 neuronal ceroid lipofuscinosis 2 Orphanet:228349 https://www.orpha.net/en/disease/detail/228349 NANDO:1200138 http://nanbyodata.jp/ontology/NANDO_1200138 ポンペ病 Pompe disease 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:1200717 http://nanbyodata.jp/ontology/NANDO_1200717 急速進行性糸球体腎炎（抗GBM抗体陽性） Anti-GBM rapidly progressive glomerulonephritis 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:1200109 http://nanbyodata.jp/ontology/NANDO_1200109 マロトー・ラミー症候群（重症型） Maroteaux Lamy syndrome, rapidly progressing form 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:1200110 http://nanbyodata.jp/ontology/NANDO_1200110 マロトー・ラミー症候群（軽症型） Maroteaux Lamy syndrome, slowly progressing form 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:1200498 http://nanbyodata.jp/ontology/NANDO_1200498 トムゼン病 Thomsen disease 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:1200120 http://nanbyodata.jp/ontology/NANDO_1200120 新生児及び早期乳児型ガラクトシアリドーシス Galactosialidosis, early infantile form 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 乳児型神経セロイドリポフスチン症 Infantile neuronal ceroid lipofuscinosis MONDO:0009744 http://purl.obolibrary.org/obo/MONDO_0009744 http://www.w3.org/2004/02/skos/core#closeMatch 神経セロイドリポフスチン症1 neuronal ceroid lipofuscinosis 1 Orphanet:228329 https://www.orpha.net/en/disease/detail/228329 NANDO:1200196 http://nanbyodata.jp/ontology/NANDO_1200196 亜急性硬化性全脳炎（典型） Typical subacute sclerosing panencephalitis 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 亜急性進行型硬化性全脳炎 Subacute progressive sclerosing panencephalitis 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:1200785 http://nanbyodata.jp/ontology/NANDO_1200785 フェニルアラニン水酸化酵素欠損症 Phenylalanine hydroxylase deficiency 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:1200423 http://nanbyodata.jp/ontology/NANDO_1200423 呼吸細気管支炎関連間質性肺炎 Respiratory bronchiolitis-associated interstitial lung disease 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:1200280 http://nanbyodata.jp/ontology/NANDO_1200280 一次性シェーグレン症候群 Primary Sjogren's syndrome 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:1200084 http://nanbyodata.jp/ontology/NANDO_1200084 新生児型マルチプルスルファターゼ欠損症 Neonatal multiple sulfatase deficiency 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:1200085 http://nanbyodata.jp/ontology/NANDO_1200085 乳幼児型マルチプルスルファターゼ欠損症 Late-infantile multiple sulfatase deficiency 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:1200623 http://nanbyodata.jp/ontology/NANDO_1200623 中性脂肪蓄積症 Neutral lipid storage disease with ichthyosis 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:1200403 http://nanbyodata.jp/ontology/NANDO_1200403 先天性副腎低形成症 Congenital adrenal hypoplasia 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:1200690 http://nanbyodata.jp/ontology/NANDO_1200690 脆弱Ｘ症候群関連疾患 Fragile X syndrome related diseases 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:1200779 http://nanbyodata.jp/ontology/NANDO_1200779 ビタミンD抵抗性くる病 Vitamin D-resistant rickets 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:1200604 http://nanbyodata.jp/ontology/NANDO_1200604 典型的レット症候群 Typical Rett syndrome 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:1200540 http://nanbyodata.jp/ontology/NANDO_1200540 脳内鉄沈着神経変性症4型 Neurodegeneration with brain iron accumulation type 4 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:1200799 http://nanbyodata.jp/ontology/NANDO_1200799 グルコーストランスポーター1欠損症 Glucose transporter 1 deficiency 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 特発性肺胞蛋白症 Idiopathic pulmonary alveolar proteinosis 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:1200746 http://nanbyodata.jp/ontology/NANDO_1200746 肺胞蛋白症 Pulmonary alveolar proteinosis MONDO:0012580 http://purl.obolibrary.org/obo/MONDO_0012580 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性肺胞蛋白症 hereditary pulmonary alveolar proteinosis Orphanet:264675 https://www.orpha.net/en/disease/detail/264675 NANDO:1200541 http://nanbyodata.jp/ontology/NANDO_1200541 FAHN Fatty acid hydroxylase-associated neurodegeneration 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:1200301 http://nanbyodata.jp/ontology/NANDO_1200301 MDSとの境界型 Borderline between aplastic anemia and MDS MONDO:0013851 http://purl.obolibrary.org/obo/MONDO_0013851 http://www.w3.org/2004/02/skos/core#closeMatch 常染色体顕性形成不全および骨髄異形成 autosomal dominant aplasia and myelodysplasia Orphanet:314399 https://www.orpha.net/en/disease/detail/314399 NANDO:1200622 http://nanbyodata.jp/ontology/NANDO_1200622 ドルフマン・シャナリン症候群 Dorfman-Chanarin syndrome MONDO:0015611 http://purl.obolibrary.org/obo/MONDO_0015611 http://www.w3.org/2004/02/skos/core#closeMatch 中性脂肪蓄積症 neutral lipid storage disease Orphanet:165 https://www.orpha.net/en/disease/detail/165 NANDO:1200301 http://nanbyodata.jp/ontology/NANDO_1200301 MDSとの境界型 Borderline between aplastic anemia and MDS 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:1200649 http://nanbyodata.jp/ontology/NANDO_1200649 後側彎型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, kyphoscoliotic type 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, 後側弯型1 Ehlers-Danlos syndrome, kyphoscoliotic type 1 Orphanet:1900 https://www.orpha.net/en/disease/detail/1900 NANDO:1200001 http://nanbyodata.jp/ontology/NANDO_1200001 球脊髄性筋萎縮症 Spinal and bulbar muscular atrophy 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:1200474 http://nanbyodata.jp/ontology/NANDO_1200474 先天性非典型溶血性尿毒症症候群 Congenital atypical hemolytic uremic syndrome 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:1200442 http://nanbyodata.jp/ontology/NANDO_1200442 自己免疫性肝炎（典型例） Typical autoimmune hepatitis 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:1200701 http://nanbyodata.jp/ontology/NANDO_1200701 完全大血管転位症II型 Complete transposition of the great arteries (Group2) MONDO:0016301 http://purl.obolibrary.org/obo/MONDO_0016301 http://www.w3.org/2004/02/skos/core#closeMatch 修正大血管転位症 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 完全大血管転位症II型 Complete transposition of the great arteries (Group2) MONDO:0016303 http://purl.obolibrary.org/obo/MONDO_0016303 http://www.w3.org/2004/02/skos/core#closeMatch 心奇形を伴う完全大血管転位症 congenitally uncorrected transposition of the great arteries with cardiac malformation Orphanet:216729 https://www.orpha.net/en/disease/detail/216729 NANDO:1200509 http://nanbyodata.jp/ontology/NANDO_1200509 脊髄髄膜瘤 Myelomeningocele 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 症候性脊髄空洞症 Symptomatic syringomyelia 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:1200539 http://nanbyodata.jp/ontology/NANDO_1200539 脳内鉄沈着神経変性症3型 Neurodegeneration with brain iron accumulation type 3 MONDO:0018307 http://purl.obolibrary.org/obo/MONDO_0018307 http://www.w3.org/2004/02/skos/core#closeMatch 脳内鉄沈着神経変性症 neurodegeneration with brain iron accumulation Orphanet:385 https://www.orpha.net/en/disease/detail/385 NANDO:1200542 http://nanbyodata.jp/ontology/NANDO_1200542 脳内鉄沈着神経変性症 Neurodegeneration with brain iron accumulation MONDO:0018307 http://purl.obolibrary.org/obo/MONDO_0018307 http://www.w3.org/2004/02/skos/core#closeMatch 脳内鉄沈着神経変性症 neurodegeneration with brain iron accumulation Orphanet:385 https://www.orpha.net/en/disease/detail/385 NANDO:1200162 http://nanbyodata.jp/ontology/NANDO_1200162 腎型シスチン症 Nephropathic cystinosis MONDO:0018467 http://purl.obolibrary.org/obo/MONDO_0018467 http://www.w3.org/2004/02/skos/core#closeMatch 乳児腎性シスチン症 nephropathic infantile cystinosis Orphanet:411629 https://www.orpha.net/en/disease/detail/411629 NANDO:1200396 http://nanbyodata.jp/ontology/NANDO_1200396 先天性副腎皮質酵素欠損症 Congenital adrenal enzyme deficiency 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:1200428 http://nanbyodata.jp/ontology/NANDO_1200428 肺毛細血管腫症 Pulmonary capillary hemangiomatosis 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:1200440 http://nanbyodata.jp/ontology/NANDO_1200440 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0018646 http://purl.obolibrary.org/obo/MONDO_0018646 http://www.w3.org/2004/02/skos/core#closeMatch 硬化性胆管炎 sclerosing cholangitis Orphanet:447771 https://www.orpha.net/en/disease/detail/447771 NANDO:1200675 http://nanbyodata.jp/ontology/NANDO_1200675 鰓耳腎症候群 Branchio-oto-renal syndrome 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 非症候型眼皮膚白皮症 Non-syndromic oculocutaneous albinism 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:1200339 http://nanbyodata.jp/ontology/NANDO_1200339 胸腺低形成 Thymus hypoplasia 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:1200481 http://nanbyodata.jp/ontology/NANDO_1200481 ミオチュブラーミオパチー Myotubular myopathy 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:1200225 http://nanbyodata.jp/ontology/NANDO_1200225 神経線維腫症 Neurofibromatosis 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:1200632 http://nanbyodata.jp/ontology/NANDO_1200632 類天疱瘡 Pemphigoid (including Epidermolysis bullosa acquisita) 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:1200142 http://nanbyodata.jp/ontology/NANDO_1200142 酸性リパーゼ欠損症 Acid lipase deficiency 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:1200617 http://nanbyodata.jp/ontology/NANDO_1200617 葉状魚鱗癬 Lamellar ichthyosis 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:1200319 http://nanbyodata.jp/ontology/NANDO_1200319 後天性二次性血栓性血小板減少性紫斑病 Secondary thrombotic thrombocytopenic purpura 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:1200838 http://nanbyodata.jp/ontology/NANDO_1200838 肝型糖原病 Hepatic glycogen storage disease 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 肝型糖原病Ia型 Hepatic glycogen storage disease type Ia MONDO:0002413 http://purl.obolibrary.org/obo/MONDO_0002413 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病I glycogen storage disease I Orphanet:364 https://www.orpha.net/en/disease/detail/364 NANDO:2100204 http://nanbyodata.jp/ontology/NANDO_2100204 免疫不全を伴う特徴的な症候群 Immunodeficiency 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 ミトコンドリア病 Mitochondrial diseases 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:2200049 http://nanbyodata.jp/ontology/NANDO_2200049 骨軟骨腫症 Osteochondromatosis 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:2200138 http://nanbyodata.jp/ontology/NANDO_2200138 アミロイド腎 Amyloid nephropathy 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:1201060 http://nanbyodata.jp/ontology/NANDO_1201060 家族性アミロイドニューロパチーI型 Familial amyloid polyneuropathy type 1 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:1201102 http://nanbyodata.jp/ontology/NANDO_1201102 短体幹症 Brachyolmia, autosomal dominant type 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:1200919 http://nanbyodata.jp/ontology/NANDO_1200919 アラジール症候群典型例 Typical Alagille syndrome 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:2200190 http://nanbyodata.jp/ontology/NANDO_2200190 喉頭狭窄 Laryngeal stenosis 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:2200008 http://nanbyodata.jp/ontology/NANDO_2200008 急性骨髄単球性白血病 Acute monocytic leukemia 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:2200049 http://nanbyodata.jp/ontology/NANDO_2200049 骨軟骨腫症 Osteochondromatosis 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:1201021 http://nanbyodata.jp/ontology/NANDO_1201021 膵囊胞線維症 Pancreatic cystic fibrosis 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:1200844 http://nanbyodata.jp/ontology/NANDO_1200844 肝型糖原病IIIc型 Hepatic glycogen storage disease type IIIc 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:1201019 http://nanbyodata.jp/ontology/NANDO_1201019 肝型糖原病III型 Hepatic glycogen storage disease type III 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:1200850 http://nanbyodata.jp/ontology/NANDO_1200850 肝型糖原病IV型 Hepatic glycogen storage disease type IV 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:1200823 http://nanbyodata.jp/ontology/NANDO_1200823 筋型糖原病 Muscle glycogen storage disease 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:2200214 http://nanbyodata.jp/ontology/NANDO_2200214 完全房室ブロック Complete atrio-ventricular block 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:1200838 http://nanbyodata.jp/ontology/NANDO_1200838 肝型糖原病 Hepatic glycogen storage disease 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:1200852 http://nanbyodata.jp/ontology/NANDO_1200852 レシチンコレステロールアシルトランスフェラーゼ欠損症 Lecithin cholesterol acyltransferase deficiency 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:1201036 http://nanbyodata.jp/ontology/NANDO_1201036 ネフロン癆 Nephronophthisis 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:2200140 http://nanbyodata.jp/ontology/NANDO_2200140 ネフロン癆 Nephronophthisis 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:1200910 http://nanbyodata.jp/ontology/NANDO_1200910 総排泄腔遺残 Persistent cloaca 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:1200866 http://nanbyodata.jp/ontology/NANDO_1200866 高IgD症候群 Hyper IgD syndrome 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:1201095 http://nanbyodata.jp/ontology/NANDO_1201095 MECP2重複症候群 MECP2 Duplication Syndrome 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:1200962 http://nanbyodata.jp/ontology/NANDO_1200962 先天性三尖弁狭窄症 Congenital tricuspid stenosis 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:2200014 http://nanbyodata.jp/ontology/NANDO_2200014 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia 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:1201009 http://nanbyodata.jp/ontology/NANDO_1201009 全身型多発血管炎性肉芽腫症 Systemic granulomatosis with polyangiitis 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:1200866 http://nanbyodata.jp/ontology/NANDO_1200866 高IgD症候群 Hyper IgD syndrome MONDO:0012481 http://purl.obolibrary.org/obo/MONDO_0012481 http://www.w3.org/2004/02/skos/core#closeMatch メバロン酸尿症 mevalonic aciduria Orphanet:29 https://www.orpha.net/en/disease/detail/29 NANDO:2200074 http://nanbyodata.jp/ontology/NANDO_2200074 甲状腺癌 Thyroid cancer 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:1201068 http://nanbyodata.jp/ontology/NANDO_1201068 無脳回 Agyria 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 厚脳回 Pachygyria 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:2200190 http://nanbyodata.jp/ontology/NANDO_2200190 喉頭狭窄 Laryngeal stenosis 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:1201097 http://nanbyodata.jp/ontology/NANDO_1201097 カルタゲナー症候群 Kartagener syndrome 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:2200204 http://nanbyodata.jp/ontology/NANDO_2200204 カルタゲナー症候群 Kartagener syndrome 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:1200924 http://nanbyodata.jp/ontology/NANDO_1200924 IgG4関連疾患包括 IgG4-related disease MONDO:0017287 http://purl.obolibrary.org/obo/MONDO_0017287 http://www.w3.org/2004/02/skos/core#closeMatch IgG4関連硬化性疾患 immunoglobulin G4-related sclerosing disease Orphanet:284264 https://www.orpha.net/en/disease/detail/284264 NANDO:1200924 http://nanbyodata.jp/ontology/NANDO_1200924 IgG4関連疾患包括 IgG4-related disease MONDO:0017287 http://purl.obolibrary.org/obo/MONDO_0017287 http://www.w3.org/2004/02/skos/core#closeMatch IgG4関連硬化性疾患 immunoglobulin G4-related sclerosing disease Orphanet:596448 https://www.orpha.net/en/disease/detail/596448 NANDO:2200216 http://nanbyodata.jp/ontology/NANDO_2200216 多源性心室期外収縮 Polymorphic ventricular premature beat MONDO:0017990 http://purl.obolibrary.org/obo/MONDO_0017990 http://www.w3.org/2004/02/skos/core#closeMatch カテコラミン誘発多形性心室頻拍 catecholaminergic polymorphic ventricular tachycardia Orphanet:3286 https://www.orpha.net/en/disease/detail/3286 NANDO:1201098 http://nanbyodata.jp/ontology/NANDO_1201098 TRPV4異常症 Transient receptor potential cation channel, vanilloid subfamily, member 4 (TRPV4) -associated disorders MONDO:0018240 http://purl.obolibrary.org/obo/MONDO_0018240 http://www.w3.org/2004/02/skos/core#closeMatch ＴＲＰＶ４関連骨障害 TRPV4-related bone disorder Orphanet:364820 https://www.orpha.net/en/disease/detail/364820 NANDO:2200054 http://nanbyodata.jp/ontology/NANDO_2200054 未分化神経外胚葉性腫瘍（末梢性のものに限る。） Primitive neuroectodermal tumors 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 膜性増殖性糸球体腎炎 Membranoproliferative glomerulonephritis 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:2200170 http://nanbyodata.jp/ontology/NANDO_2200170 髄質嚢胞腎 Medullary cystic kidney 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 アミロイド腎 Amyloid nephropathy 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:1200815 http://nanbyodata.jp/ontology/NANDO_1200815 赤芽球性プロトポルフィリン症 Erythropoietic protoporphyria 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 巨大リンパ管奇形（頚部顔面病変） Giant lymphatic malformation (cervicofacial lesion) 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:2200017 http://nanbyodata.jp/ontology/NANDO_2200017 急性未分化型白血病 Acute undifferentiated leukemia 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 混合型急性白血病 Mixed phenotype acute leukemia 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:1200962 http://nanbyodata.jp/ontology/NANDO_1200962 先天性三尖弁狭窄症 Congenital tricuspid stenosis 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:2200022 http://nanbyodata.jp/ontology/NANDO_2200022 Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 http://purl.obolibrary.org/obo/MONDO_0020511 http://www.w3.org/2004/02/skos/core#closeMatch 前駆B細胞性急性リンパ芽球性白血病 precursor B-cell acute lymphoblastic leukemia Orphanet:99860 https://www.orpha.net/en/disease/detail/99860 NANDO:1201090 http://nanbyodata.jp/ontology/NANDO_1201090 ミオパチー型エーラス・ダンロス症候群 Myopathic Ehlers-Danlos syndrome 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 類古典型エーラス・ダンロス症候群 Classical-like Ehlers-Danlos syndrome 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:2201168 http://nanbyodata.jp/ontology/NANDO_2201168 Hurler病 Hurler Disease 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:2201042 http://nanbyodata.jp/ontology/NANDO_2201042 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy 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 多発性軟骨性外骨腫症 Multiple cartilaginous exostosis 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:2200284 http://nanbyodata.jp/ontology/NANDO_2200284 大動脈縮窄複合 Coarctation complex 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:2200406 http://nanbyodata.jp/ontology/NANDO_2200406 多発性内分泌腫瘍2型 Multiple endocrine neoplasia type 2 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:2201345 http://nanbyodata.jp/ontology/NANDO_2201345 軟骨無発生症2型 Achondrogenesis type 2 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:2201139 http://nanbyodata.jp/ontology/NANDO_2201139 発症前型極長鎖アシルCoA脱水素酵素欠損症 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency 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:2201242 http://nanbyodata.jp/ontology/NANDO_2201242 遅発乳児型神経セロイドリポフスチン症 Late infantile neuronal ceroid lipofuscinosis MONDO:0008769 http://purl.obolibrary.org/obo/MONDO_0008769 http://www.w3.org/2004/02/skos/core#closeMatch 神経セロイドリポフスチン症2 neuronal ceroid lipofuscinosis 2 Orphanet:228349 https://www.orpha.net/en/disease/detail/228349 NANDO:2201084 http://nanbyodata.jp/ontology/NANDO_2201084 発症前型N-アセチルグルタミン酸合成酵素欠損症 Presymptomatic N-acetylglutamate synthetase deficiency 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:2200346 http://nanbyodata.jp/ontology/NANDO_2200346 自己免疫性多内分泌腺症候群1型 Autoimmune polyendocrinopathy type 1 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:2200738 http://nanbyodata.jp/ontology/NANDO_2200738 自己免疫性多腺性内分泌不全症 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 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:2200537 http://nanbyodata.jp/ontology/NANDO_2200537 グリコーゲン合成酵素欠損症 Glycogen synthase deficiency 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:2201119 http://nanbyodata.jp/ontology/NANDO_2201119 発症前型3-ヒドロキシ-3-メチルグルタル酸血症 Presymptomatic 3-hydroxy-3-methylglutaric acidemia 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:2201193 http://nanbyodata.jp/ontology/NANDO_2201193 新生児及び早期乳児型ガラクトシアリドーシス Galactosialidosis, early infantile form 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 乳児型神経セロイドリポフスチン症 Infantile neuronal ceroid lipofuscinosis MONDO:0009744 http://purl.obolibrary.org/obo/MONDO_0009744 http://www.w3.org/2004/02/skos/core#closeMatch 神経セロイドリポフスチン症1 neuronal ceroid lipofuscinosis 1 Orphanet:228329 https://www.orpha.net/en/disease/detail/228329 NANDO:2200950 http://nanbyodata.jp/ontology/NANDO_2200950 総排泄腔遺残 Persistent cloaca 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:2200484 http://nanbyodata.jp/ontology/NANDO_2200484 高オルニチン血症 Hyperornithinemia 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:2200486 http://nanbyodata.jp/ontology/NANDO_2200486 脳回転状脈絡膜網膜萎縮症を伴う高オルニチン血症 Gyrate atrophy of choroid and retina 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:2200436 http://nanbyodata.jp/ontology/NANDO_2200436 高IgD症候群 Hyper IgD syndrome 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:2201075 http://nanbyodata.jp/ontology/NANDO_2201075 フェニルアラニン水酸化酵素欠損症 Phenylalanine hydroxylase deficiency 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:2201227 http://nanbyodata.jp/ontology/NANDO_2201227 新生児型マルチプルスルファターゼ欠損症 Neonatal multiple sulfatase deficiency 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:2201228 http://nanbyodata.jp/ontology/NANDO_2201228 乳幼児型マルチプルスルファターゼ欠損症 Late-infantile multiple sulfatase deficiency 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:2200357 http://nanbyodata.jp/ontology/NANDO_2200357 先天性副腎低形成症 Congenital adrenal hypoplasia 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:2200586 http://nanbyodata.jp/ontology/NANDO_2200586 ヒポキサンチングアニンホスホリボシルトランスフェラーゼ欠損症 Lesch-Nyhan syndrome 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:2200934 http://nanbyodata.jp/ontology/NANDO_2200934 先天性多発肝内胆管拡張症 Caroli disease 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:2201168 http://nanbyodata.jp/ontology/NANDO_2201168 Hurler病 Hurler Disease 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:2201147 http://nanbyodata.jp/ontology/NANDO_2201147 発症前型三頭酵素欠損症 Presymptomatic trifunctional protein deficiency MONDO:0012172 http://purl.obolibrary.org/obo/MONDO_0012172 http://www.w3.org/2004/02/skos/core#closeMatch ミトコンドリア三機能タンパク欠乏症 mitochondrial trifunctional protein deficiency Orphanet:746 https://www.orpha.net/en/disease/detail/746 NANDO:2200451 http://nanbyodata.jp/ontology/NANDO_2200451 PLCG2異常症 PLCg2 deficiency MONDO:0013944 http://purl.obolibrary.org/obo/MONDO_0013944 http://www.w3.org/2004/02/skos/core#closeMatch 自己炎症-PLCG2関連抗体欠損-免疫調節障害 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 DADA2 Deficiency of the enzyme ADA2 MONDO:0014306 http://purl.obolibrary.org/obo/MONDO_0014306 http://www.w3.org/2004/02/skos/core#closeMatch アデノシンデアミナーゼ2欠損症 deficiency of adenosine deaminase 2 Orphanet:404553 https://www.orpha.net/en/disease/detail/404553 NANDO:2200359 http://nanbyodata.jp/ontology/NANDO_2200359 38から41までに掲げるもののほか、慢性副腎皮質機能低下症 Other chronic adrenal insufficiency MONDO:0015129 http://purl.obolibrary.org/obo/MONDO_0015129 http://www.w3.org/2004/02/skos/core#closeMatch 慢性原発性副腎機能不全 chronic primary adrenal insufficiency Orphanet:101959 https://www.orpha.net/en/disease/detail/101959 NANDO:2200284 http://nanbyodata.jp/ontology/NANDO_2200284 大動脈縮窄複合 Coarctation complex MONDO:0015446 http://purl.obolibrary.org/obo/MONDO_0015446 http://www.w3.org/2004/02/skos/core#closeMatch 異型大動脈縮窄症 atypical coarctation of aorta Orphanet:1456 https://www.orpha.net/en/disease/detail/1456 NANDO:2200510 http://nanbyodata.jp/ontology/NANDO_2200510 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 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:2201133 http://nanbyodata.jp/ontology/NANDO_2201133 乳児期発症型カルニチンパルミトイルトランスフェラーゼII欠損症 Infantile-onset carnitine palmitoyl transferase II deficiency 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 遅発型カルニチンパルミトイルトランスフェラーゼII欠損症 Late-onset carnitine palmitoyltransferase II deficiency 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:2200997 http://nanbyodata.jp/ontology/NANDO_2200997 ドルフマン・シャナリン症候群 Dorfman-Chanarin syndrome MONDO:0015611 http://purl.obolibrary.org/obo/MONDO_0015611 http://www.w3.org/2004/02/skos/core#closeMatch 中性脂肪蓄積症 neutral lipid storage disease Orphanet:165 https://www.orpha.net/en/disease/detail/165 NANDO:2200855 http://nanbyodata.jp/ontology/NANDO_2200855 遺伝性運動感覚ニューロパチー Hereditary Motor and Sensory Neuropathy 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:2201016 http://nanbyodata.jp/ontology/NANDO_2201016 2型コラーゲン異常症関連疾患 Type II collagenopathy 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:2200234 http://nanbyodata.jp/ontology/NANDO_2200234 心室瘤 Aneurysm of ventricle MONDO:0015677 http://purl.obolibrary.org/obo/MONDO_0015677 http://www.w3.org/2004/02/skos/core#closeMatch 心憩室 cardiac diverticulum Orphanet:1686 https://www.orpha.net/en/disease/detail/1686 NANDO:2200805 http://nanbyodata.jp/ontology/NANDO_2200805 好酸球増加症 Hyper eosinophilic syndrome MONDO:0015691 http://purl.obolibrary.org/obo/MONDO_0015691 http://www.w3.org/2004/02/skos/core#closeMatch 好酸球増加症候群 hypereosinophilic syndrome Orphanet:168956 https://www.orpha.net/en/disease/detail/168956 NANDO:2200388 http://nanbyodata.jp/ontology/NANDO_2200388 混合性性腺異形成症 Mixed gonadal dysgenesis 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:2201259 http://nanbyodata.jp/ontology/NANDO_2201259 後側彎型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, kyphoscoliotic type 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, 後側弯型1 Ehlers-Danlos syndrome, kyphoscoliotic type 1 Orphanet:1900 https://www.orpha.net/en/disease/detail/1900 NANDO:2201016 http://nanbyodata.jp/ontology/NANDO_2201016 2型コラーゲン異常症関連疾患 Type II collagenopathy 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:2201172 http://nanbyodata.jp/ontology/NANDO_2201172 中間型ムコ多糖症II型 Mucopolysaccharidosis type II, intermediate form 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:2200340 http://nanbyodata.jp/ontology/NANDO_2200340 中枢性甲状腺機能低下症 Central hypothyroidism MONDO:0016410 http://purl.obolibrary.org/obo/MONDO_0016410 http://www.w3.org/2004/02/skos/core#closeMatch 中枢性先天性甲状腺機能低下症 central congenital hypothyroidism Orphanet:226298 https://www.orpha.net/en/disease/detail/226298 NANDO:2200602 http://nanbyodata.jp/ontology/NANDO_2200602 家族性高コレステロール血症 Familial hypercholesterolemia 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:2200602 http://nanbyodata.jp/ontology/NANDO_2200602 家族性高コレステロール血症 Familial hypercholesterolemia 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:2200814 http://nanbyodata.jp/ontology/NANDO_2200814 脊髄髄膜瘤 Myelomeningocele 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:2200399 http://nanbyodata.jp/ontology/NANDO_2200399 先天性高インスリン血症 Congenital hyperinsulinemia 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:2200681 http://nanbyodata.jp/ontology/NANDO_2200681 第XIII因子欠乏症 Factor XIII deficiency 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:2200528 http://nanbyodata.jp/ontology/NANDO_2200528 ミトコンドリアDNA欠失 Diseases due to mitochondrial DNA deletion 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:2200948 http://nanbyodata.jp/ontology/NANDO_2200948 腸管神経節細胞僅少症 Congenital Isolated Hypoganglionosis 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:2201234 http://nanbyodata.jp/ontology/NANDO_2201234 腎型シスチン症 Nephropathic cystinosis MONDO:0018467 http://purl.obolibrary.org/obo/MONDO_0018467 http://www.w3.org/2004/02/skos/core#closeMatch 乳児腎性シスチン症 nephropathic infantile cystinosis Orphanet:411629 https://www.orpha.net/en/disease/detail/411629 NANDO:2200929 http://nanbyodata.jp/ontology/NANDO_2200929 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0018646 http://purl.obolibrary.org/obo/MONDO_0018646 http://www.w3.org/2004/02/skos/core#closeMatch 硬化性胆管炎 sclerosing cholangitis Orphanet:447771 https://www.orpha.net/en/disease/detail/447771 NANDO:2200449 http://nanbyodata.jp/ontology/NANDO_2200449 NLRP-12関連周期性症候群 NLRP12-associated periodic syndrome MONDO:0018768 http://purl.obolibrary.org/obo/MONDO_0018768 http://www.w3.org/2004/02/skos/core#closeMatch 家族性寒冷自己炎症症候群 familial cold autoinflammatory syndrome Orphanet:47045 https://www.orpha.net/en/disease/detail/47045 NANDO:2200465 http://nanbyodata.jp/ontology/NANDO_2200465 脂肪萎縮性糖尿病 Lipoatrophic diabetes 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:2200712 http://nanbyodata.jp/ontology/NANDO_2200712 胸腺低形成 Thymus hypoplasia 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:2200867 http://nanbyodata.jp/ontology/NANDO_2200867 ミオチュブラーミオパチー Myotubular myopathy 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:2200570 http://nanbyodata.jp/ontology/NANDO_2200570 酸性リパーゼ欠損症 Acid lipase deficiency 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:2200228 http://nanbyodata.jp/ontology/NANDO_2200228 QT延長症候群 Long qt syndrome 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 QT延長症候群 Long qt syndrome 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:2201287 http://nanbyodata.jp/ontology/NANDO_2201287 仙尾部奇形腫（Altman IV型） Altman type IV sacrococcygeal teratoma 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:1201120 http://nanbyodata.jp/ontology/NANDO_1201120 シャイ・ドレーガー症候群 Shy-Drager syndrome 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:2201454 http://nanbyodata.jp/ontology/NANDO_2201454 全消化管型若年性ポリポーシス Generalized juvenile polyposis 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 大腸限局型若年性ポリポーシス Juvenile polyposis coli 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:2201346 http://nanbyodata.jp/ontology/NANDO_2201346 軟骨低発生症 Hypochondrogenesis 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:2201468 http://nanbyodata.jp/ontology/NANDO_2201468 一次性シェーグレン症候群 Primary Sjogren's syndrome 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:2201356 http://nanbyodata.jp/ontology/NANDO_2201356 X連鎖性劣性末節骨短縮型点状軟骨異形成症 X-linked recessive brachytelephalangic chondrodysplasia punctata 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:2201400 http://nanbyodata.jp/ontology/NANDO_2201400 GRIN2B関連神経発達異常症 GRIN2B-related neurodevelopmental disorder MONDO:0013509 http://purl.obolibrary.org/obo/MONDO_0013509 http://www.w3.org/2004/02/skos/core#closeMatch 知的障害, 常染色体顕性6 intellectual disability, autosomal dominant 6 Orphanet:589547 https://www.orpha.net/en/disease/detail/589547 NANDO:2201375 http://nanbyodata.jp/ontology/NANDO_2201375 優性単純型表皮水疱症 Autosomal dominant epidermolysis bullosa simplex 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:2201464 http://nanbyodata.jp/ontology/NANDO_2201464 S状結腸型ヒルシュスプルング病 Rectosigmoid Hirschsprung's disease 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 全結腸型ヒルシュスプルング病 Entire colon Hirschsprung disease 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:2201463 http://nanbyodata.jp/ontology/NANDO_2201463 直腸下部型ヒルシュスプルング病 Short-segment Hirschsprung's disease 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 左右結腸型ヒルシュスプルング病 Long-segment Hirschsprung's disease 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 小腸型ヒルシュスプルング病 Extensive aganglionosis Hirschsprung disease 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:2201391 http://nanbyodata.jp/ontology/NANDO_2201391 鰓耳腎症候群 Branchio-oto-renal syndrome 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:2201421 http://nanbyodata.jp/ontology/NANDO_2201421 斑状強皮症 Circumscribed morphea 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:1201115 http://nanbyodata.jp/ontology/NANDO_1201115 TM/TAFI 異常症 Disorder of thrombomodulin/thrombin-activatable fibrinolysis inhibitor MONDO:0013775 http://purl.obolibrary.org/obo/MONDO_0013775 http://www.w3.org/2004/02/skos/core#closeMatch トロンボモジュリン関連出血性疾患 thrombomodulin-related bleeding disorder Orphanet:436169 https://www.orpha.net/en/disease/detail/436169 NANDO:1200215 http://nanbyodata.jp/ontology/NANDO_1200215 ウルリッヒ病 Ullrich disease 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:1200037 http://nanbyodata.jp/ontology/NANDO_1200037 脊髄小脳変性症 Spinocerebellar degeneration MONDO:0000437 http://purl.obolibrary.org/obo/MONDO_0000437 http://www.w3.org/2004/02/skos/core#exactMatch 小脳性運動失調症 cerebellar ataxia Orphanet:102002 https://www.orpha.net/en/disease/detail/102002 NANDO:1200302 http://nanbyodata.jp/ontology/NANDO_1200302 先天性再生不良性貧血 Congenital aplastic anemia MONDO:0001713 http://purl.obolibrary.org/obo/MONDO_0001713 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性再生不良性貧血 inherited aplastic anemia Orphanet:68383 https://www.orpha.net/en/disease/detail/68383 NANDO:1200302 http://nanbyodata.jp/ontology/NANDO_1200302 先天性再生不良性貧血 Congenital aplastic anemia MONDO:0001713 http://purl.obolibrary.org/obo/MONDO_0001713 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性再生不良性貧血 inherited aplastic anemia Orphanet:397692 https://www.orpha.net/en/disease/detail/397692 NANDO:1200055 http://nanbyodata.jp/ontology/NANDO_1200055 ライソゾーム病 Lysosomal storage disease MONDO:0002561 http://purl.obolibrary.org/obo/MONDO_0002561 http://www.w3.org/2004/02/skos/core#exactMatch ライソゾーム蓄積症 lysosomal storage disease Orphanet:68366 https://www.orpha.net/en/disease/detail/68366 NANDO:1200320 http://nanbyodata.jp/ontology/NANDO_1200320 原発性免疫不全症候群 Primary immunodeficiency syndrome 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:1200002 http://nanbyodata.jp/ontology/NANDO_1200002 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis 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:1200286 http://nanbyodata.jp/ontology/NANDO_1200286 肥大型心筋症 Hypertrophic cardiomyopathy 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 全身性強皮症 Systemic sclerosis MONDO:0005100 http://purl.obolibrary.org/obo/MONDO_0005100 http://www.w3.org/2004/02/skos/core#exactMatch 全身性強皮症 systemic sclerosis Orphanet:90291 https://www.orpha.net/en/disease/detail/90291 NANDO:1200174 http://nanbyodata.jp/ontology/NANDO_1200174 慢性進行性外眼筋麻痺症候群 Chronic progressive external ophthalmoplegia 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:1200292 http://nanbyodata.jp/ontology/NANDO_1200292 拘束型心筋症 Restrictive cardiomyopathy 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:1100006 http://nanbyodata.jp/ontology/NANDO_1100006 血液系疾患 Blood disease 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:1200278 http://nanbyodata.jp/ontology/NANDO_1200278 混合性結合組織病 Mixed connective tissue disease 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:1200030 http://nanbyodata.jp/ontology/NANDO_1200030 慢性炎症性脱髄性多発神経炎 Chronic inflammatory demyelinating polyneuropathy 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神経根ニューロパチー chronic inflammatory demyelinating polyradiculoneuropathy Orphanet:2932 https://www.orpha.net/en/disease/detail/2932 NANDO:1200194 http://nanbyodata.jp/ontology/NANDO_1200194 変異型クロイツフェルトヤコブ病 Variant Creutzfeldt-Jakob disease 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 神経線維腫症II型 Neurofibromatosis type 2 MONDO:0007039 http://purl.obolibrary.org/obo/MONDO_0007039 http://www.w3.org/2004/02/skos/core#exactMatch NF2関連神経鞘腫症 NF2-related schwannomatosis Orphanet:637 https://www.orpha.net/en/disease/detail/637 NANDO:1200323 http://nanbyodata.jp/ontology/NANDO_1200323 アデノシンデアミナーゼ欠損症 Adenosine deaminase deficiency 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:1200041 http://nanbyodata.jp/ontology/NANDO_1200041 脊髄小脳失調症3型 Spinocerebellar ataxia type 3 MONDO:0007182 http://purl.obolibrary.org/obo/MONDO_0007182 http://www.w3.org/2004/02/skos/core#exactMatch マシャド・ジョセフ病 Machado-Joseph disease Orphanet:98757 https://www.orpha.net/en/disease/detail/98757 NANDO:1200284 http://nanbyodata.jp/ontology/NANDO_1200284 ベーチェット病 Behcet's disease 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:1200044 http://nanbyodata.jp/ontology/NANDO_1200044 脊髄小脳失調症31型 Spinocerebellar ataxia type 31 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:1200189 http://nanbyodata.jp/ontology/NANDO_1200189 家族性クロイツフェルト・ヤコブ病 Familial Creutzfeldt-Jakob disease 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:1200043 http://nanbyodata.jp/ontology/NANDO_1200043 歯状核赤核淡蒼球ルイ体萎縮症 Dentatorubropallidoluysian atrophy 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:1200190 http://nanbyodata.jp/ontology/NANDO_1200190 ゲルストマン・ストロイスラー・シャインカー病 Gerstmann-Straussler-Scheinker syndrome 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:1200012 http://nanbyodata.jp/ontology/NANDO_1200012 ハンチントン病 Huntington's disease 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 多系統萎縮症 Multiple system atrophy 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 封入体筋炎 Sporadic inclusion body myositis 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:1200272 http://nanbyodata.jp/ontology/NANDO_1200272 全身性エリテマトーデス Systemic lupus erythematosus 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 ベスレムミオパチー Bethlem Myopathy 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 HTLV-1関連脊髄症 HTLV-1-associated myelopathy MONDO:0008039 http://purl.obolibrary.org/obo/MONDO_0008039 http://www.w3.org/2004/02/skos/core#exactMatch 熱帯性痙性不全対麻痺 tropical spastic paraparesis Orphanet:289326 https://www.orpha.net/en/disease/detail/289326 NANDO:1200045 http://nanbyodata.jp/ontology/NANDO_1200045 脊髄小脳失調症1型 Spinocerebellar ataxia type 1 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:1200229 http://nanbyodata.jp/ontology/NANDO_1200229 尋常性天疱瘡 Pemphigus vulgaris 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 キンドラー症候群 Kindler syndrome 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:1200042 http://nanbyodata.jp/ontology/NANDO_1200042 脊髄小脳失調症6型 Spinocerebellar ataxia type 6 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 脊髄小脳失調症2型 Spinocerebellar ataxia type 2 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:1200258 http://nanbyodata.jp/ontology/NANDO_1200258 巨細胞性動脈炎 Giant cell arteritis 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:1200315 http://nanbyodata.jp/ontology/NANDO_1200315 免疫性血小板減少症 Immune thrombocytopenia 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:1200014 http://nanbyodata.jp/ontology/NANDO_1200014 有棘赤血球舞踏病 Chorea-acanthocytosis MONDO:0008695 http://purl.obolibrary.org/obo/MONDO_0008695 http://www.w3.org/2004/02/skos/core#exactMatch VPS13A関連神経変性疾患 VPS13A-related neurodegenerative disease Orphanet:2388 https://www.orpha.net/en/disease/detail/2388 NANDO:1200133 http://nanbyodata.jp/ontology/NANDO_1200133 アスパルチルグルコサミン尿症 Aspartylglucosaminuria 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:1200331 http://nanbyodata.jp/ontology/NANDO_1200331 毛細血管拡張性運動失調症 Ataxia telangiectasia 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:1200051 http://nanbyodata.jp/ontology/NANDO_1200051 アプラタキシン欠損症 Ataxia-oculomotor apraxia type 1 MONDO:0008842 http://purl.obolibrary.org/obo/MONDO_0008842 http://www.w3.org/2004/02/skos/core#exactMatch 運動失調, 早発性, 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:1200329 http://nanbyodata.jp/ontology/NANDO_1200329 MHCクラスII欠損症 MHC class II deficiency 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:1200266 http://nanbyodata.jp/ontology/NANDO_1200266 バージャー病 Buerger's disease 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 特発性基底核石灰化症 Idiopathic basal ganglia calcification 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:1200164 http://nanbyodata.jp/ontology/NANDO_1200164 非腎型シスチン症 Non-nephropathic cystinosis 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 中間型シスチン症 Intermediate cystinosis 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:1200238 http://nanbyodata.jp/ontology/NANDO_1200238 劣性栄養障害型表皮水疱症 Recessive dystrophic epidermolysis bullosa 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:1200086 http://nanbyodata.jp/ontology/NANDO_1200086 ファーバー病 Farber disease 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 フコシドーシス Fucosidosis 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:1200067 http://nanbyodata.jp/ontology/NANDO_1200067 乳児型GM1-ガングリオシドーシス Infantile GM1 gangliosidosis 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 若年型GM1-ガングリオシドーシス Juvenile GM1 gangliosidosis 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 成人型GM1-ガングリオシドーシス Adult GM1 gangliosidosis 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 ゴーシェ病1型 Gaucher disease type 1 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 ゴーシェ病2型 Gaucher disease type 2 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 ゴーシェ病3型 Gaucher disease type 3 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 クラッベ病 Krabbe disease 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:1200126 http://nanbyodata.jp/ontology/NANDO_1200126 α-マンノシドーシス Alpha-mannosidosis 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 β-マンノシドーシス Beta-mannosidosis 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:1200080 http://nanbyodata.jp/ontology/NANDO_1200080 若年型異染性白質ジストロフィー Juvenile ｍetachromatic leukodystrophy 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:1200124 http://nanbyodata.jp/ontology/NANDO_1200124 ムコリピドーシスII型 Mucolipidosis II 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 サンフィリッポ症候群A型 Sanfilippo disease type A 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 サンフィリッポ症候群B型 Sanfilippo disease type B 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 サンフィリッポ症候群C型 Sanfilippo disease type C 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 サンフィリッポ症候群D型 Sanfilippo disease type D 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 モルキオ症候群A型 Morquio syndrome type A 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 モルキオ症候群B型 Morquio syndrome type B 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 マロトー・ラミー症候群 Maroteaux-Lamy syndrome 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 Sly病 Sly syndrome 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:1200004 http://nanbyodata.jp/ontology/NANDO_1200004 脊髄性筋萎縮症I型 Spinal muscular atrophy type I 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 脊髄性筋萎縮症III型 Spinal muscular atrophy type III 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 脊髄性筋萎縮症II型 Spinal muscular atrophy type II 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:1200217 http://nanbyodata.jp/ontology/NANDO_1200217 三好型ミオパチー Miyoshi myopathy 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:1200020 http://nanbyodata.jp/ontology/NANDO_1200020 重症筋無力症 Myasthenia gravis 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:1200334 http://nanbyodata.jp/ontology/NANDO_1200334 ICF症候群 ICF syndrome 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:1200522 http://nanbyodata.jp/ontology/NANDO_1200522 DYT11ジストニア Dystonia 11 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 遺伝性周期性四肢麻痺 Hereditary periodic paralysis 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 顔面肩甲上腕型筋ジストロフィー Facioscapulohumeral muscular dystrophy 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:1200607 http://nanbyodata.jp/ontology/NANDO_1200607 結節性硬化症 Tuberous sclerosis complex 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:1200416 http://nanbyodata.jp/ontology/NANDO_1200416 特発性間質性肺炎 Idiopathic interstitial pneumonia 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:1200364 http://nanbyodata.jp/ontology/NANDO_1200364 先天性補体欠損症 Inherited deficiency of complement system 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:1200368 http://nanbyodata.jp/ontology/NANDO_1200368 常染色体優性多発性嚢胞腎 Autosomal dominant polycystic kidney disease MONDO:0004691 http://purl.obolibrary.org/obo/MONDO_0004691 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体顕性多発性嚢胞腎 autosomal dominant polycystic kidney disease Orphanet:730 https://www.orpha.net/en/disease/detail/730 NANDO:1200366 http://nanbyodata.jp/ontology/NANDO_1200366 IgＡ腎症 IgA nephropathy 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:1200439 http://nanbyodata.jp/ontology/NANDO_1200439 原発性胆汁性胆管炎 Primary biliary cholangitis 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:1200675 http://nanbyodata.jp/ontology/NANDO_1200675 鰓耳腎症候群 Branchio-oto-renal syndrome 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 アペール症候群 Apert syndrome 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 ファイファー症候群 Pfeiffer syndrome 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:1200479 http://nanbyodata.jp/ontology/NANDO_1200479 セントラルコア病 Central core disease 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:1200666 http://nanbyodata.jp/ontology/NANDO_1200666 クルーゾン症候群 Crouzon's syndrome 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:1200375 http://nanbyodata.jp/ontology/NANDO_1200375 中枢性尿崩症 Central diabetes insipidus 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:1200512 http://nanbyodata.jp/ontology/NANDO_1200512 DYT1ジストニア Dystonia 1 MONDO:0007492 http://purl.obolibrary.org/obo/MONDO_0007492 http://www.w3.org/2004/02/skos/core#exactMatch 早発性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 DYT4ジストニア Dystonia 4 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:1200523 http://nanbyodata.jp/ontology/NANDO_1200523 DYT12ジストニア Dystonia 12 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:1200646 http://nanbyodata.jp/ontology/NANDO_1200646 古典型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, classical type 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 関節型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, hypermobility type 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 多発関節弛緩型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, arthrochalasis type 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:1200472 http://nanbyodata.jp/ontology/NANDO_1200472 TNF受容体関連周期性症候群 TNF receptor-associated periodic fever syndrome MONDO:0007727 http://purl.obolibrary.org/obo/MONDO_0007727 http://www.w3.org/2004/02/skos/core#exactMatch TNF受容体1関連周期性発熱症候群 TNF receptor 1-associated periodic fever syndrome Orphanet:32960 https://www.orpha.net/en/disease/detail/32960 NANDO:1200613 http://nanbyodata.jp/ontology/NANDO_1200613 表在性表皮融解性魚鱗癬 Superficial epidermolytic ichthyosis 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:1200644 http://nanbyodata.jp/ontology/NANDO_1200644 マルファン症候群／ロイス・ディーツ症候群 Marfan syndrome/Loeys-Dietz Syndrome 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 マルファン症候群／ロイス・ディーツ症候群 Marfan syndrome/Loeys-Dietz Syndrome 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:1200559 http://nanbyodata.jp/ontology/NANDO_1200559 メビウス症候群 Moebius syndrome 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:1200354 http://nanbyodata.jp/ontology/NANDO_1200354 周期性好中球減少症 Cyclic neutropenia 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:1200493 http://nanbyodata.jp/ontology/NANDO_1200493 眼咽頭筋型筋ジストロフィー Oculopharyngeal muscular dystrophy 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 先天性パラミオトニー Paramyotonia congenita 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:1200547 http://nanbyodata.jp/ontology/NANDO_1200547 ペリー病 Perry disease 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 家族性良性慢性天疱瘡 Benign familial pemphigus 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:1200503 http://nanbyodata.jp/ontology/NANDO_1200503 遺伝性低カリウム性周期性四肢麻痺 Hereditary hypokalemic periodic paralysis 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 遺伝性高カリウム性周期性四肢麻痺 Hereditary hyperkalemic periodic paralysis 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:1200678 http://nanbyodata.jp/ontology/NANDO_1200678 プラダー・ウィリ症候群 Prader-Willi syndrome 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:1200606 http://nanbyodata.jp/ontology/NANDO_1200606 スタージ・ウェーバー症候群 Sturge-Weber syndrome 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 先天性核上性球麻痺 Congenital suprabulbar paresis 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:1200476 http://nanbyodata.jp/ontology/NANDO_1200476 ブラウ症候群 Blau syndrome 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 マックル・ウェルズ症候群 Muckle-Wells syndrome 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:1200657 http://nanbyodata.jp/ontology/NANDO_1200657 VATER症候群 VATER syndrome 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 ウィリアムズ症候群 Williams syndrome 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:1200398 http://nanbyodata.jp/ontology/NANDO_1200398 3β−水酸化ステロイド脱水素酵素欠損症 3-β-Hydroxysteroid dehydrogenase deficiency 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脱水素酵素欠損による先天性副腎過形成 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 21-水酸化酵素欠損症 21-Hydroxylase deficiency 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 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 11β-水酸化酵素欠損症 11-β-Hydroxylase deficiency 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 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 17α−水酸化酵素欠損症 17-α-Hydroxylase deficiency 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 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Orphanet:90793 https://www.orpha.net/en/disease/detail/90793 NANDO:1200554 http://nanbyodata.jp/ontology/NANDO_1200554 アレキサンダー病 Alexander disease 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:1200669 http://nanbyodata.jp/ontology/NANDO_1200669 アントレー・ビクスラー症候群 Antley-Bixler syndrome 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:1200333 http://nanbyodata.jp/ontology/NANDO_1200333 ブルーム症候群 Bloom syndrome 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 チェディアック・東症候群 Chédiak-Higashi syndrome 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:1200464 http://nanbyodata.jp/ontology/NANDO_1200464 チャージ症候群 CHARGE syndrome 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 コステロ症候群 Costello syndrome 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:1200379 http://nanbyodata.jp/ontology/NANDO_1200379 クッシング病 Cushing disease 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:1200658 http://nanbyodata.jp/ontology/NANDO_1200658 那須・ハコラ病 Nasu-Hakola disease 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:1200513 http://nanbyodata.jp/ontology/NANDO_1200513 DYT2ジストニア Dystonia 2 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:1200651 http://nanbyodata.jp/ontology/NANDO_1200651 皮膚脆弱型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, dermatosparaxis type 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:1200410 http://nanbyodata.jp/ontology/NANDO_1200410 Allgrove症候群 Allgrove syndrome 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:1200534 http://nanbyodata.jp/ontology/NANDO_1200534 NBIA1 Neurodegeneration with brain iron accumulation type 1 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:1200341 http://nanbyodata.jp/ontology/NANDO_1200341 肝中心静脈閉鎖症を伴う免疫不全症 Hepatic veno-occlusive disease with immunodeficiency 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:1200663 http://nanbyodata.jp/ontology/NANDO_1200663 モワット・ウィルソン症候群 Mowat-Wilson syndrome 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:1200614 http://nanbyodata.jp/ontology/NANDO_1200614 道化師様魚鱗癬 Harlequin ichthyosis 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:1200337 http://nanbyodata.jp/ontology/NANDO_1200337 シムケ症候群 Schimke syndrome MONDO:0009458 http://purl.obolibrary.org/obo/MONDO_0009458 http://www.w3.org/2004/02/skos/core#exactMatch シムケ免疫・骨異形成症 Schimke immuno-osseous dysplasia Orphanet:1830 https://www.orpha.net/en/disease/detail/1830 NANDO:1200662 http://nanbyodata.jp/ontology/NANDO_1200662 有馬症候群 Arima syndrome 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:1200602 http://nanbyodata.jp/ontology/NANDO_1200602 ランドウ・クレフナー症候群 Landau-Kleffner syndrome 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:1200424 http://nanbyodata.jp/ontology/NANDO_1200424 リンパ球性間質性肺炎 Lymphoid interstitial pneumonia 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:1200485 http://nanbyodata.jp/ontology/NANDO_1200485 マリネスコ・シェーグレン症候群 Marinesco-Sjogren syndrome 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:1200332 http://nanbyodata.jp/ontology/NANDO_1200332 ナイミーヘン染色体不安定症候群 Nijmegen breakage syndrome 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:1200494 http://nanbyodata.jp/ontology/NANDO_1200494 福山型先天性筋ジストロフィー Fukuyama type congenital muscular dystrophy 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:1200358 http://nanbyodata.jp/ontology/NANDO_1200358 ミエロペルオキシダーゼ欠損症 Myeloperoxidase deficiency 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:1200943 http://nanbyodata.jp/ontology/NANDO_1200943 アッシャー症候群2型 Usher syndrome Type II 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 錐体ジストロフィー Cone dystrophy 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:1200815 http://nanbyodata.jp/ontology/NANDO_1200815 赤芽球性プロトポルフィリン症 Erythropoietic protoporphyria MONDO:0001676 http://purl.obolibrary.org/obo/MONDO_0001676 http://www.w3.org/2004/02/skos/core#exactMatch 赤芽球性プロトポルフィリン症 erythropoietic protoporphyria Orphanet:659681 https://www.orpha.net/en/disease/detail/659681 NANDO:1200802 http://nanbyodata.jp/ontology/NANDO_1200802 尿素サイクル異常症 Urea cycle disorder 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:1200705 http://nanbyodata.jp/ontology/NANDO_1200705 左心低形成症候群 Hypoplastic left heart syndrome 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:1200911 http://nanbyodata.jp/ontology/NANDO_1200911 先天性横隔膜ヘルニア Congenital diaphragmatic hernia 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:1200877 http://nanbyodata.jp/ontology/NANDO_1200877 軟骨無形成症 Achondroplasia 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 先天性赤血球形成異常性貧血 Type III Congenital dyserythropoietic anemia type III 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:1200686 http://nanbyodata.jp/ontology/NANDO_1200686 アンジェルマン症候群 Angelman syndrome 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:1200918 http://nanbyodata.jp/ontology/NANDO_1200918 アラジール症候群 Alagille syndrome 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:1200813 http://nanbyodata.jp/ontology/NANDO_1200813 遺伝性コプロポルフィリン症 Hereditary coproporphyria 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:1200684 http://nanbyodata.jp/ontology/NANDO_1200684 5p欠失症候群 5p deletion syndrome 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:1200878 http://nanbyodata.jp/ontology/NANDO_1200878 リンパ管腫症/ゴーハム病 Lymphangiomatosis / Gorham-Stout disease 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 進行性骨化性線維異形成症 Fibrodysplasia ossificans progressiva 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 クリッペル・トレノネー・ウェーバー症候群 Klippel-Trenaunay-Weber syndrome 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:1200921 http://nanbyodata.jp/ontology/NANDO_1200921 遺伝性膵炎 Hereditary pancreatitis 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 クロンカイト・カナダ症候群 Cronkhite-Canada syndrome 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:1200812 http://nanbyodata.jp/ontology/NANDO_1200812 急性間欠性ポルフィリン症 Acute intermittent porphyria 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 異型ポルフィリン症 Variegate porphyria 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:1200708 http://nanbyodata.jp/ontology/NANDO_1200708 心室中隔欠損を伴う肺動脈閉鎖症 Pulmonary atresia with ventricular septal defect 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:1200751 http://nanbyodata.jp/ontology/NANDO_1200751 肺胞低換気症候群 Alveolar hypoventilation syndrome 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:1200687 http://nanbyodata.jp/ontology/NANDO_1200687 スミス・マギニス症候群 Smith-Magenis syndrome 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 ファロー四徴症 Tetralogy of Fallot 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:1200875 http://nanbyodata.jp/ontology/NANDO_1200875 タナトフォリック骨異形成症1型 Thanatophoric dysplasia type 1 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 タナトフォリック骨異形成症2型 Thanatophoric dysplasia type 2 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:1200683 http://nanbyodata.jp/ontology/NANDO_1200683 4p欠失症候群 4p deletion syndrome 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:1200857 http://nanbyodata.jp/ontology/NANDO_1200857 無βリポタンパク血症 Abetalipoproteinemia MONDO:0008692 http://purl.obolibrary.org/obo/MONDO_0008692 http://www.w3.org/2004/02/skos/core#exactMatch 無ベータリポ蛋白血症 abetalipoproteinemia Orphanet:14 https://www.orpha.net/en/disease/detail/14 NANDO:1200854 http://nanbyodata.jp/ontology/NANDO_1200854 タンジール病 Tangier disease 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 アルギニン血症 Argininemia MONDO:0008814 http://purl.obolibrary.org/obo/MONDO_0008814 http://www.w3.org/2004/02/skos/core#exactMatch アルギナーゼ欠損症 arginase deficiency Orphanet:90 https://www.orpha.net/en/disease/detail/90 NANDO:1200806 http://nanbyodata.jp/ontology/NANDO_1200806 アルギニノコハク酸尿症 Argininosuccinic aciduria 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 シトステロール血症 Sitosterolemia 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:1200913 http://nanbyodata.jp/ontology/NANDO_1200913 胆道閉鎖症 Biliary atresia 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:1200856 http://nanbyodata.jp/ontology/NANDO_1200856 脳腱黄色腫症 Cerebrotendinous xanthomatosis 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:1200763 http://nanbyodata.jp/ontology/NANDO_1200763 根性点状軟骨異形成症1型 Rhizomelic chondrodysplasia punctata type 1 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:1200939 http://nanbyodata.jp/ontology/NANDO_1200939 中心性輪紋状脈絡膜ジストロフィー Central areolar choroidal dystrophy 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:1200805 http://nanbyodata.jp/ontology/NANDO_1200805 古典型シトルリン血症 Classic citrullinemia 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:1200922 http://nanbyodata.jp/ontology/NANDO_1200922 嚢胞性線維症 Cystic fibrosis 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:1200809 http://nanbyodata.jp/ontology/NANDO_1200809 リジン尿性蛋白不耐症 Lysinuric protein intolerance 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:1200771 http://nanbyodata.jp/ontology/NANDO_1200771 根性点状軟骨異形成症2型 Rhizomelic chondrodysplasia punctata type 2 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:1200887 http://nanbyodata.jp/ontology/NANDO_1200887 先天性赤血球形成異常性貧血 Type II Congenital dyserythropoietic anemia type II 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:1200711 http://nanbyodata.jp/ontology/NANDO_1200711 エプスタイン病 Ebstein's anomaly 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:1200810 http://nanbyodata.jp/ontology/NANDO_1200810 先天性葉酸吸収不全症 Hereditary folate malabsorption MONDO:0009238 http://purl.obolibrary.org/obo/MONDO_0009238 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性葉酸吸収不良症 hereditary folate malabsorption Orphanet:90045 https://www.orpha.net/en/disease/detail/90045 NANDO:1200851 http://nanbyodata.jp/ontology/NANDO_1200851 ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症 Galactose-1-phosphate uridyltransferase deficiency 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:1200800 http://nanbyodata.jp/ontology/NANDO_1200800 グルタル酸血症1型 Glutaric acidemia type 1 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 グルタル酸血症2型 Glutaric acidemia type 2 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:1200841 http://nanbyodata.jp/ontology/NANDO_1200841 肝型糖原病Ib型 Hepatic glycogen storage disease type Ib 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 筋型糖原病II型 Glycogen storage diseases type II 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:1200826 http://nanbyodata.jp/ontology/NANDO_1200826 筋型糖原病III型 Glycogen storage diseases type III 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:1200827 http://nanbyodata.jp/ontology/NANDO_1200827 筋型糖原病IV型 Glycogen storage diseases type IV 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 筋型糖原病V型 Glycogen storage diseases type V 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 肝型糖原病VI型 Hepatic glycogen storage disease type VI 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:1200829 http://nanbyodata.jp/ontology/NANDO_1200829 筋型糖原病VII型 Glycogen storage diseases type VII 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:1200718 http://nanbyodata.jp/ontology/NANDO_1200718 抗糸球体基底膜腎炎 Goodpasture syndrome 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 CPSI欠損症 Carbamoyl phosphate synthetase I deficiency 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:1200808 http://nanbyodata.jp/ontology/NANDO_1200808 NAGS欠損症 NAGS deficiency 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:1200824 http://nanbyodata.jp/ontology/NANDO_1200824 筋型糖原病0型 Glycogen storage diseases type 0 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:1200798 http://nanbyodata.jp/ontology/NANDO_1200798 イソ吉草酸血症 Isovaleric acidemia 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 メープルシロップ尿症 Maple syrup urine disease 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 コバラミン代謝異常（MCM欠損症） Methylmalonyl-Coenzyme A mutase deficiency 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 コバラミン代謝異常 cblA Methylmalonic acidemia cblA type 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 コバラミン代謝異常 cblB Methylmalonic acidemia cblB type 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:1200713 http://nanbyodata.jp/ontology/NANDO_1200713 ギャロウェイ・モワト症候群 Galloway-Mowat syndrome 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:1200822 http://nanbyodata.jp/ontology/NANDO_1200822 ビオチニダーゼ欠損症 Biotinidase deficiency 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 ホロカルボキシラーゼ合成酵素欠損症 Holocarboxylase synthetase deficiency 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:1200955 http://nanbyodata.jp/ontology/NANDO_1200955 ラフォラ病 Lafora disease 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 ウンフェルリヒト・ルントボルグ病 Unverricht-Lundborg disease 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:1201071 http://nanbyodata.jp/ontology/NANDO_1201071 多小脳回 Polymicrogyria 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:2100135 http://nanbyodata.jp/ontology/NANDO_2100135 思春期早発症 Precocious puberty 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:1201032 http://nanbyodata.jp/ontology/NANDO_1201032 脳クレアチン欠乏症候群 Cerebral creatine deficiency syndromes 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:2100140 http://nanbyodata.jp/ontology/NANDO_2100140 性分化疾患 Disorders of sex development 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:1201018 http://nanbyodata.jp/ontology/NANDO_1201018 肝型糖原病I型 Hepatic glycogen storage disease type I MONDO:0002413 http://purl.obolibrary.org/obo/MONDO_0002413 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病I glycogen storage disease I Orphanet:364 https://www.orpha.net/en/disease/detail/364 NANDO:2100165 http://nanbyodata.jp/ontology/NANDO_2100165 ライソゾーム病 Lysosomal storage disease MONDO:0002561 http://purl.obolibrary.org/obo/MONDO_0002561 http://www.w3.org/2004/02/skos/core#exactMatch ライソゾーム蓄積症 lysosomal storage disease Orphanet:68366 https://www.orpha.net/en/disease/detail/68366 NANDO:2200057 http://nanbyodata.jp/ontology/NANDO_2200057 悪性ラブドイド腫瘍 Malignant rhabdoid tumour 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:2200024 http://nanbyodata.jp/ontology/NANDO_2200024 ホジキンリンパ腫 Hodgkin lymphoma 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 血管免疫芽球性T細胞リンパ腫 Angioimmunoblastic T-cell lymphoma 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細胞リンパ腫 angioimmunoblastic T-cell lymphoma Orphanet:86886 https://www.orpha.net/en/disease/detail/86886 NANDO:2200044 http://nanbyodata.jp/ontology/NANDO_2200044 腎明細胞肉腫 Clear cell sarcoma of the kidney 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 神経節芽腫 Ganglioneuroblastoma 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 平滑筋肉腫 Leiomyosarcoma 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 脂肪肉腫 Liposarcoma 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:2100004 http://nanbyodata.jp/ontology/NANDO_2100004 リンパ腫 Lymphoma 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:2200040 http://nanbyodata.jp/ontology/NANDO_2200040 神経芽腫 Neuroblastoma 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 腎細胞癌 Renal cell carcinoma 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 線維肉腫 Fibrosarcoma 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 横紋筋肉腫 Rhabdomyosarcoma 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:2200004 http://nanbyodata.jp/ontology/NANDO_2200004 急性骨髄性白血病、最未分化 Acute myeloid leukemia with minimal differentiation 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 成熟を伴わない急性骨髄性白血病 Acute myeloid leukemia without maturation 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:2200067 http://nanbyodata.jp/ontology/NANDO_2200067 胎児性癌 Embryonal carcinoma 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:2100175 http://nanbyodata.jp/ontology/NANDO_2100175 血液疾患 Blood disease 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:2200069 http://nanbyodata.jp/ontology/NANDO_2200069 卵黄嚢腫 Yolk sac tumour 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:2200034 http://nanbyodata.jp/ontology/NANDO_2200034 濾胞樹状細胞肉腫 Follicular dendritic cell sarcoma 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:2200039 http://nanbyodata.jp/ontology/NANDO_2200039 ロサイ・ドルフマン病 Rosai-Dorfman disease 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性組織球症 sinus histiocytosis with massive lymphadenopathy Orphanet:158014 https://www.orpha.net/en/disease/detail/158014 NANDO:2200079 http://nanbyodata.jp/ontology/NANDO_2200079 悪性胸腺腫 Malignant thymoma 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 副腎皮質癌 Adrenocortical carcinoma 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:2100085 http://nanbyodata.jp/ontology/NANDO_2100085 心房中隔欠損症 Atrial septal defect 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:1201075 http://nanbyodata.jp/ontology/NANDO_1201075 偽性副甲状腺機能低下症Ia型 Pseudohypoparathyroidism type 1A 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:1201063 http://nanbyodata.jp/ontology/NANDO_1201063 家族性アミロイドニューロパチーIV型 Familial amyloid polyneuropathy type 4 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:2200047 http://nanbyodata.jp/ontology/NANDO_2200047 肝細胞癌 Hepatocellular carcinoma 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:1201088 http://nanbyodata.jp/ontology/NANDO_1201088 脊椎異形成型エーラス・ダンロス症候群 Spondylodysplastic Ehlers-Danlos syndrome 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 歯周型エーラス・ダンロス症候群 Periodontal Ehlers-Danlos syndrome 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:2200009 http://nanbyodata.jp/ontology/NANDO_2200009 急性単球性白血病 Acute monocytic leukemia 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:1201099 http://nanbyodata.jp/ontology/NANDO_1201099 変容性骨異形成症 Metatropic dysplasia 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:1200967 http://nanbyodata.jp/ontology/NANDO_1200967 ネイル・パテラ症候群 Nail-patella syndrome 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:1201007 http://nanbyodata.jp/ontology/NANDO_1201007 ハッチンソン・ギルフォード症候群 Hutchinson-Gilford syndrome 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:2200042 http://nanbyodata.jp/ontology/NANDO_2200042 網膜芽細胞腫 Retinoblastoma 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:1201100 http://nanbyodata.jp/ontology/NANDO_1201100 脊椎骨端骨幹端異形成症Maroteaux 型 Spondyloepimetaphyseal dysplasia, Maroteaux type 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 脊椎骨幹端異形成症Kozlowski 型 Spondylometaphyseal dysplasia, Kozlowski type 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 偽性副甲状腺機能低下症II型 Pseudohypoparathyroidism type 2 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:1200987 http://nanbyodata.jp/ontology/NANDO_1200987 β-ケトチオラーゼ欠損症 Beta-ketothiolase deficiency 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 膠様滴状角膜ジストロフィー Gelatinous drop-like corneal dystrophy 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 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 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 カルニチントランスポーター欠損症 Systemic primary carnitine deficiency 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:2200050 http://nanbyodata.jp/ontology/NANDO_2200050 軟骨肉腫 Chondrosarcoma 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:1201059 http://nanbyodata.jp/ontology/NANDO_1201059 バレー・ジェロルド症候群 Baller-Gerold syndrome 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:1201086 http://nanbyodata.jp/ontology/NANDO_1201086 心臓弁型エーラス・ダンロス症候群 Cardiac-valvular Ehlers-Danlos syndrome 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 接合部型表皮水疱症（ヘルリッツ型） Herlitz junctional epidermolysis bullosa 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 脆弱角膜症候群 Brittle cornea syndrome 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:1201039 http://nanbyodata.jp/ontology/NANDO_1201039 ホモシスチン尿症I型 Homocystinuria type 1 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 ホモシスチン尿症III型 Homocystinuria type 3 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:1201083 http://nanbyodata.jp/ontology/NANDO_1201083 ミラー・ディカー症候群 Miller Dieker syndrome 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:1200990 http://nanbyodata.jp/ontology/NANDO_1200990 メチルグルタコン酸尿症I型 3-methylglutaconic aciduria type I 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:2200317 http://nanbyodata.jp/ontology/NANDO_2200317 器質的成長ホルモン分泌不全性低身長症 Congenital growth hormone deficiency 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:2200258 http://nanbyodata.jp/ontology/NANDO_2200258 完全大血管転位症 Complete transposition of the great arteries 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:2200199 http://nanbyodata.jp/ontology/NANDO_2200199 特発性間質性肺炎 Idiopathic interstitial pneumonia 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:2200103 http://nanbyodata.jp/ontology/NANDO_2200103 神経鞘腫 Neurinoma 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 奇形腫 Teratoma of the central nervous system 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:2200153 http://nanbyodata.jp/ontology/NANDO_2200153 常染色体優性多発性嚢胞腎 Autosomal dominant polycystic kidney disease MONDO:0004691 http://purl.obolibrary.org/obo/MONDO_0004691 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体顕性多発性嚢胞腎 autosomal dominant polycystic kidney disease Orphanet:730 https://www.orpha.net/en/disease/detail/730 NANDO:2200249 http://nanbyodata.jp/ontology/NANDO_2200249 左心低形成症候群 Hypoplastic left heart syndrome 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 拡張型心筋症 Dilated cardiomyopathy 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 肥大型心筋症 Hypertrophic cardiomyopathy 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 拘束型心筋症 Restrictive cardiomyopathy 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:2200121 http://nanbyodata.jp/ontology/NANDO_2200121 IgA腎症 IgA nephropathy 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:2200210 http://nanbyodata.jp/ontology/NANDO_2200210 先天性横隔膜ヘルニア Congenital diaphragmatic hernia 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:2200095 http://nanbyodata.jp/ontology/NANDO_2200095 下垂体腺腫 Pituitary adenoma 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:2200185 http://nanbyodata.jp/ontology/NANDO_2200185 Prune belly症候群 Prune belly syndrome 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:2200271 http://nanbyodata.jp/ontology/NANDO_2200271 総肺静脈還流異常症 Total anomalous pulmonary venous connection 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 大動脈縮窄症 Coarctation of the aorta 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:2200133 http://nanbyodata.jp/ontology/NANDO_2200133 フィブロネクチン腎症 Glomerulopathy with fibronectin deposits, fibronectin nephropathy 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:2200090 http://nanbyodata.jp/ontology/NANDO_2200090 髄芽腫 Medulloblastoma 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:2200132 http://nanbyodata.jp/ontology/NANDO_2200132 ネイル・パテラ症候群 Nail-patella syndrome 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:2200252 http://nanbyodata.jp/ontology/NANDO_2200252 心室中隔欠損を伴う肺動脈閉鎖症 Pulmonary atresia with ventricular septal defect 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:2200207 http://nanbyodata.jp/ontology/NANDO_2200207 特発性肺ヘモジデローシス Idiopathic pulmonary hemosiderosis 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:2200285 http://nanbyodata.jp/ontology/NANDO_2200285 大動脈弁上狭窄症 Supravalvular aortic stenosis 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 ファロー四徴症 Tetralogy of Fallot 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 ウィリアムズ症候群 Williams syndrome 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:2200116 http://nanbyodata.jp/ontology/NANDO_2200116 Denys-Drash症候群 Denys-Drash syndrome 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:2200098 http://nanbyodata.jp/ontology/NANDO_2200098 脊索腫 Chordoma 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:2200288 http://nanbyodata.jp/ontology/NANDO_2200288 大動脈弓離断複合 Interruption of aortic arch complex 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:2200205 http://nanbyodata.jp/ontology/NANDO_2200205 嚢胞性線維症 Cystic fibrosis 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:2200260 http://nanbyodata.jp/ontology/NANDO_2200260 エプスタイン病 Ebstein's anomaly 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 心内膜線維弾性症 Endocardial fibroelastosis 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:2200125 http://nanbyodata.jp/ontology/NANDO_2200125 抗糸球体基底膜腎炎 Goodpasture syndrome 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:2200547 http://nanbyodata.jp/ontology/NANDO_2200547 ムコ多糖症I型 Mucopolysaccharidosis type I 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 糖原病I型 Glycogen storage disease type I MONDO:0002413 http://purl.obolibrary.org/obo/MONDO_0002413 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病I glycogen storage disease I Orphanet:364 https://www.orpha.net/en/disease/detail/364 NANDO:2200503 http://nanbyodata.jp/ontology/NANDO_2200503 原発性高シュウ酸尿症 Primary hyperoxaluria 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:2200429 http://nanbyodata.jp/ontology/NANDO_2200429 全身性強皮症 Systemic sclerosis MONDO:0005100 http://purl.obolibrary.org/obo/MONDO_0005100 http://www.w3.org/2004/02/skos/core#exactMatch 全身性強皮症 systemic sclerosis Orphanet:90291 https://www.orpha.net/en/disease/detail/90291 NANDO:2200399 http://nanbyodata.jp/ontology/NANDO_2200399 先天性高インスリン血症 Congenital hyperinsulinemia 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 混合性結合組織病 Mixed connective tissue disease 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 ベーチェット病 Behcet's disease 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 ケルビズム Cherubism 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 多発性内分泌腫瘍1型 Multiple endocrine neoplasia type 1 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 TNF受容体関連周期性症候群 TNF receptor-associated periodic fever syndrome MONDO:0007727 http://purl.obolibrary.org/obo/MONDO_0007727 http://www.w3.org/2004/02/skos/core#exactMatch TNF受容体1関連周期性発熱症候群 TNF receptor 1-associated periodic fever syndrome Orphanet:32960 https://www.orpha.net/en/disease/detail/32960 NANDO:2200416 http://nanbyodata.jp/ontology/NANDO_2200416 全身性エリテマトーデス Systemic lupus erythematosus 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 若年性皮膚筋炎 Juvenile dermatomyositis 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:2200472 http://nanbyodata.jp/ontology/NANDO_2200472 プロリダーゼ欠損症 Prolidase deficiency 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:2200411 http://nanbyodata.jp/ontology/NANDO_2200411 プラダー・ウィリ症候群 Prader-Willi syndrome 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:2200363 http://nanbyodata.jp/ontology/NANDO_2200363 リドル症候群 Liddle syndrome 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:2200434 http://nanbyodata.jp/ontology/NANDO_2200434 ブラウ症候群 Blau syndrome, early onset sarcoidosis 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:2200513 http://nanbyodata.jp/ontology/NANDO_2200513 中鎖アシルCoA脱水素酵素欠損症 Medium-chain acyl-CoA dehydrogenase deficiency 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 短鎖アシルCoA脱水素酵素欠損症 Short-chain acyl-CoA dehydrogenase deficiency 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 極長鎖アシルCoA脱水素酵素欠損症 Very-long-chain acyl-CoA dehydrogenase deficiency 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:2200371 http://nanbyodata.jp/ontology/NANDO_2200371 3β-ヒドロキシステロイド脱水素酵素欠損症 3 beta-hydroxysteroid dehydrogenase deficiency 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脱水素酵素欠損による先天性副腎過形成 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 21-水酸化酵素欠損症 21-Hydroxylase deficiency 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 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 11β-水酸化酵素欠損症 11-β-Hydroxylase deficiency 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 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 17α-水酸化酵素欠損症 17 alpha-hydroxylase deficiency 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 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Orphanet:90793 https://www.orpha.net/en/disease/detail/90793 NANDO:2200504 http://nanbyodata.jp/ontology/NANDO_2200504 アルカプトン尿症 Alkaptonuria 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 β-ケトチオラーゼ欠損症 Beta-ketothiolase deficiency 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 高アルギニン血症 Hyperargininemia MONDO:0008814 http://purl.obolibrary.org/obo/MONDO_0008814 http://www.w3.org/2004/02/skos/core#exactMatch アルギナーゼ欠損症 arginase deficiency Orphanet:90 https://www.orpha.net/en/disease/detail/90 NANDO:2200481 http://nanbyodata.jp/ontology/NANDO_2200481 アルギニノコハク酸尿症 Argininosuccinic aciduria 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 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 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 全身性カルニチン欠損症 Organic cation transporter 2 deficiency 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 アルギニノコハク酸合成酵素欠損症 Argininosuccinate synthetase deficiency 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:2200362 http://nanbyodata.jp/ontology/NANDO_2200362 見かけの鉱質コルチコイド過剰症候群 Apparent mineralocorticoid excess syndrome 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 副腎皮質結節性過形成 ACTH-independent macronodular adrenal hyperplasia 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 クッシング病 Cushing disease 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:2200489 http://nanbyodata.jp/ontology/NANDO_2200489 シスチン尿症 Cystinuria 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 リジン尿性蛋白不耐症 Lysinuric protein intolerance 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 遺伝性フルクトース不耐症 Hereditary fructose intolerance 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 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 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 ガラクトキナーゼ欠損症 Galactokinase deficiency 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 ウリジル二リン酸ガラクトース-4-エピメラーゼ欠損症 UDP-galactose-4-epimerase deficiency 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 ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症 Galactose-1-phosphate uridyltransferase deficiency 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 グルタル酸血症1型 Glutaric acidemia type 1 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 グルタル酸血症2型 Glutaric acidemia type 2 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 糖原病III型 Glycogen storage disease type III 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 糖原病IV型 Glycogen storage disease type IV 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 糖原病V型 Glycogen storage disease type V 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 糖原病VI型 Glycogen storage disease type VI 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 糖原病VII型 Glycogen storage disease type VII 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:2200384 http://nanbyodata.jp/ontology/NANDO_2200384 卵巣形成不全 Ovarian dysgenesis 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:2200487 http://nanbyodata.jp/ontology/NANDO_2200487 ハートナップ病 Hartnup disease 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 カルバミルリン酸合成酵素欠損症 Carbamoylphosphate synthetase deficiency 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 N-アセチルグルタミン酸合成酵素欠損症 N-acetylglutamate synthetase deficiency 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 高オルニチン血症・高アンモニア血症・ホモシトルリン尿症症候群 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 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 イソ吉草酸血症 Isovaleric acidemia 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 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 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 3-ヒドロキシ-3-メチルグルタル酸血症 3-hydroxy-3-methylglutaric acidemia 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 メープルシロップ尿症 Maple syrup urine disease 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:2200551 http://nanbyodata.jp/ontology/NANDO_2200551 ムコ多糖症VI型 Mucopolysaccharidosis type VI 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:2200708 http://nanbyodata.jp/ontology/NANDO_2200708 ICF症候群 ICF syndrome 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:2200862 http://nanbyodata.jp/ontology/NANDO_2200862 ウルリヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy 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 脳クレアチン欠乏症候群 Cerebral creatine deficiency syndrome 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 顔面肩甲上腕型筋ジストロフィー Facioscapulohumeral muscular dystrophy 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 結節性硬化症 Tuberous sclerosis complex 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:2200815 http://nanbyodata.jp/ontology/NANDO_2200815 脊髄脂肪腫 Spinal lipoma 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:2200776 http://nanbyodata.jp/ontology/NANDO_2200776 先天性補体欠損症 Inherited deficiency of complement system 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:2200655 http://nanbyodata.jp/ontology/NANDO_2200655 本態性血小板血症 Essential thrombocythemia 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:2200844 http://nanbyodata.jp/ontology/NANDO_2200844 アペール症候群 Apert syndrome 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 Seather-Chotzen症候群 Saethre-Chotzen syndrome 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:2200696 http://nanbyodata.jp/ontology/NANDO_2200696 アデノシンデアミナーゼ欠損症 Adenosine deaminase deficiency 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:2200851 http://nanbyodata.jp/ontology/NANDO_2200851 脳動静脈奇形 Cerebral arteriovenous malformation 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 ゴーリン症候群 Gorlin syndrome 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 セントラルコア病 Central core disease 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 クルーゾン病 Crouzon disease 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:2200746 http://nanbyodata.jp/ontology/NANDO_2200746 周期性好中球減少症 Cyclic neutropenia 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:2200833 http://nanbyodata.jp/ontology/NANDO_2200833 ハッチンソン・ギルフォード症候群 Hutchinson-Gilford syndrome 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:2200668 http://nanbyodata.jp/ontology/NANDO_2200668 血小板型フォンウィルブランド病 Platelet-type von Willebrand disease 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:2200820 http://nanbyodata.jp/ontology/NANDO_2200820 中隔視神経形成異常症 Septo-optic dysplasia 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 スタージ・ウェーバー症候群 Sturge-Weber syndrome 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:2200645 http://nanbyodata.jp/ontology/NANDO_2200645 免疫性血小板減少性紫斑病 Immune thrombocytopenic purpura 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:2200829 http://nanbyodata.jp/ontology/NANDO_2200829 フォンヒッペル・リンドウ病 von Hippel-Lindau disease 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:2200604 http://nanbyodata.jp/ontology/NANDO_2200604 無βリポタンパク血症 Abetalipoproteinemia MONDO:0008692 http://purl.obolibrary.org/obo/MONDO_0008692 http://www.w3.org/2004/02/skos/core#exactMatch 無ベータリポ蛋白血症 abetalipoproteinemia Orphanet:14 https://www.orpha.net/en/disease/detail/14 NANDO:2200584 http://nanbyodata.jp/ontology/NANDO_2200584 先天性腸性肢端皮膚炎 Acrodermatitis enteropathica 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:2200672 http://nanbyodata.jp/ontology/NANDO_2200672 先天性フィブリノーゲン欠乏症 Afibrinogenemia 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:2200835 http://nanbyodata.jp/ontology/NANDO_2200835 アレキサンダー病 Alexander disease 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:2200555 http://nanbyodata.jp/ontology/NANDO_2200555 アスパルチルグルコサミン尿症 Aspartylglucosaminuria 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:2200705 http://nanbyodata.jp/ontology/NANDO_2200705 毛細血管拡張性運動失調症 Ataxia telangiectasia 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:2200617 http://nanbyodata.jp/ontology/NANDO_2200617 無トランスフェリン血症 Congenital atransferrinemia 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:2200702 http://nanbyodata.jp/ontology/NANDO_2200702 MHCクラスII欠損症 MHC class II deficiency 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:2200707 http://nanbyodata.jp/ontology/NANDO_2200707 ブルーム症候群 Bloom syndrome 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:2200773 http://nanbyodata.jp/ontology/NANDO_2200773 CARD9欠損症 CARD9 deficiency 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:2200724 http://nanbyodata.jp/ontology/NANDO_2200724 チェディアック・東症候群 Chédiak-Higashi syndrome 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:2200821 http://nanbyodata.jp/ontology/NANDO_2200821 ダンディー・ウォーカー症候群 Dandy-Walker syndrome 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:2200597 http://nanbyodata.jp/ontology/NANDO_2200597 ドーパミンβ-水酸化酵素欠損症 Dopamine beta hydroxylase deficiency 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:2200768 http://nanbyodata.jp/ontology/NANDO_2200768 疣贅状表皮発育異常症 Epidermodysplasia verruciformis 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:2200808 http://nanbyodata.jp/ontology/NANDO_2200808 慢性活動性EBウイルス感染症 Chronic active EB virus infection 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:2200565 http://nanbyodata.jp/ontology/NANDO_2200565 ファーバー病 Farber disease 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:2200685 http://nanbyodata.jp/ontology/NANDO_2200685 先天性高分子キニノゲン欠乏症 High molecular weight kininogen deficiency 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:2200592 http://nanbyodata.jp/ontology/NANDO_2200592 先天性葉酸吸収不全症 Hereditary folate malabsorption MONDO:0009238 http://purl.obolibrary.org/obo/MONDO_0009238 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性葉酸吸収不良症 hereditary folate malabsorption Orphanet:90045 https://www.orpha.net/en/disease/detail/90045 NANDO:2200553 http://nanbyodata.jp/ontology/NANDO_2200553 フコシドーシス Fucosidosis 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:2200656 http://nanbyodata.jp/ontology/NANDO_2200656 ベルナール・スーリエ症候群 Bernard-Soulier syndrome 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:2200569 http://nanbyodata.jp/ontology/NANDO_2200569 ポンペ病 Pompe disease 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:2200680 http://nanbyodata.jp/ontology/NANDO_2200680 第XII因子欠乏症 Factor XII deficiency 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:2200714 http://nanbyodata.jp/ontology/NANDO_2200714 肝中心静脈閉鎖症を伴う免疫不全症 Hepatic veno-occlusive disease with immunodeficiency 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 シムケ症候群 Schimke syndrome MONDO:0009458 http://purl.obolibrary.org/obo/MONDO_0009458 http://www.w3.org/2004/02/skos/core#exactMatch シムケ免疫・骨異形成症 Schimke immuno-osseous dysplasia Orphanet:1830 https://www.orpha.net/en/disease/detail/1830 NANDO:2200564 http://nanbyodata.jp/ontology/NANDO_2200564 クラッベ病 Krabbe disease 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 リポイドタンパク症 Lipoid proteinosis 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:2200827 http://nanbyodata.jp/ontology/NANDO_2200827 神経皮膚黒色症 Neurocutaneous melanosis MONDO:0009578 http://purl.obolibrary.org/obo/MONDO_0009578 http://www.w3.org/2004/02/skos/core#exactMatch 神経皮膚黒色腫症 neurocutaneous melanocytosis Orphanet:2481 https://www.orpha.net/en/disease/detail/2481 NANDO:2200706 http://nanbyodata.jp/ontology/NANDO_2200706 ナイミーヘン染色体不安定症候群 Nijmegen breakage syndrome 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:2200567 http://nanbyodata.jp/ontology/NANDO_2200567 ムコリピドーシスII型 Mucolipidosis II 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:2200552 http://nanbyodata.jp/ontology/NANDO_2200552 ムコ多糖症VII型 Mucopolysaccharidosis type VII 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:2200860 http://nanbyodata.jp/ontology/NANDO_2200860 福山型先天性筋ジストロフィー Fukuyama type congenital muscular dystrophy 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:2200758 http://nanbyodata.jp/ontology/NANDO_2200758 ミエロペルオキシダーゼ欠損症 Myeloperoxidase deficiency 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:2201032 http://nanbyodata.jp/ontology/NANDO_2201032 リンパ管腫 Lymphangioma 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 内軟骨腫症 Enchondromatosis 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:2200892 http://nanbyodata.jp/ontology/NANDO_2200892 先天性トキソプラズマ感染症 Congenital toxoplasmosis 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:2200905 http://nanbyodata.jp/ontology/NANDO_2200905 慢性炎症性脱髄性多発神経炎 Chronic inflammatory demyelinating polyneuropathy 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神経根ニューロパチー chronic inflammatory demyelinating polyradiculoneuropathy Orphanet:2932 https://www.orpha.net/en/disease/detail/2932 NANDO:2201009 http://nanbyodata.jp/ontology/NANDO_2201009 軟骨無形成症 Achondroplasia 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:2200976 http://nanbyodata.jp/ontology/NANDO_2200976 ファイファー症候群 Pfeiffer syndrome 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 アンジェルマン症候群 Angelman syndrome 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:2201027 http://nanbyodata.jp/ontology/NANDO_2201027 青色ゴムまり様母斑症候群 Blue rubber bleb nevus syndrome 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:2200931 http://nanbyodata.jp/ontology/NANDO_2200931 アラジール症候群 Alagille syndrome 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:2201026 http://nanbyodata.jp/ontology/NANDO_2201026 ビールズ症候群 Beals syndrome 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:2200961 http://nanbyodata.jp/ontology/NANDO_2200961 5p-症候群 5p- syndrome 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:2201050 http://nanbyodata.jp/ontology/NANDO_2201050 家族性中枢性尿崩症 Familial central diabetes insipidus 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:2200884 http://nanbyodata.jp/ontology/NANDO_2200884 変形性筋ジストニー Dystonia musculorum deformans MONDO:0007492 http://purl.obolibrary.org/obo/MONDO_0007492 http://www.w3.org/2004/02/skos/core#exactMatch 早発性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:2200959 http://nanbyodata.jp/ontology/NANDO_2200959 ベックウィズ・ヴィーデマン症候群 Beckwith-Wiedemann syndrome 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 カムラティ・エンゲルマン症候群 Camurati-Engelmann disease 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:2201020 http://nanbyodata.jp/ontology/NANDO_2201020 進行性骨化性線維異形成症 Fibrodysplasia ossificans progressiva 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:2201073 http://nanbyodata.jp/ontology/NANDO_2201073 MODY5 Maturity-onset diabetes of the young type 5 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:2201035 http://nanbyodata.jp/ontology/NANDO_2201035 カサバッハ・メリット症候群 Kasabach-Merritt syndrome 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 軟骨低形成症 Hypochondroplasia 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 表在性表皮融解性魚鱗癬 Superficial epidermolytic ichthyosis 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 クリッペル・トレノネー・ウェーバー症候群 Klippel-Trenaunay-Weber syndrome 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 ラーセン症候群 Larsen syndrome 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:2200968 http://nanbyodata.jp/ontology/NANDO_2200968 マルファン症候群 Marfan syndrome 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 マルファン症候群 Marfan syndrome 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:2200980 http://nanbyodata.jp/ontology/NANDO_2200980 メビウス症候群 Moebius syndrome 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:2201053 http://nanbyodata.jp/ontology/NANDO_2201053 MEN2B Multiple endocrine neoplasia type 2B 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 内軟骨腫症 Enchondromatosis 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:2200942 http://nanbyodata.jp/ontology/NANDO_2200942 遺伝性膵炎 Hereditary pancreatitis 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:2201052 http://nanbyodata.jp/ontology/NANDO_2201052 MEN2A Multiple endocrine neoplasia type 2A 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:2200917 http://nanbyodata.jp/ontology/NANDO_2200917 ポイツ・ジェガース症候群 Peutz-Jeghers syndrome 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:2201018 http://nanbyodata.jp/ontology/NANDO_2201018 偽性軟骨無形成症 Pseudoachondroplasia 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:2200954 http://nanbyodata.jp/ontology/NANDO_2200954 スミス・マギニス症候群 Smith-Magenis syndrome 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 ダウン症候群 Down syndrome 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:2201067 http://nanbyodata.jp/ontology/NANDO_2201067 マックル・ウェルズ症候群 Muckle-Wells syndrome 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:2200983 http://nanbyodata.jp/ontology/NANDO_2200983 VATER症候群 VATER syndrome 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:2200962 http://nanbyodata.jp/ontology/NANDO_2200962 4p-症候群 4p- Syndrome 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 アントレー・ビクスラー症候群 Antley-Bixler syndrome 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 胆道閉鎖症 biliary atresia 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:2201040 http://nanbyodata.jp/ontology/NANDO_2201040 気管支軟化症 Bronchomalacia 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:2200972 http://nanbyodata.jp/ontology/NANDO_2200972 チャージ症候群 CHARGE syndrome 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 コステロ症候群 Costello syndrome 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 クリグラー・ナジャー症候群 Crigler-Najjar syndrome 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 ショ糖イソ麦芽糖分解酵素欠損症 Congenital sucrase-isomaltase deficiency 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 エンテロキナーゼ欠損症 Enterokinase deficiency 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:2201196 http://nanbyodata.jp/ontology/NANDO_2201196 乳児型GM1-ガングリオシドーシス GM1 gangliosidosis, infantile form 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 若年型GM1-ガングリオシドーシス GM1 gangliosidosis, juvenile form 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 成人型GM1-ガングリオシドーシス GM1 gangliosidosis, adult form 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 ゴーシェ病1型 Gaucher disease type 1 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 ゴーシェ病2型 Gaucher disease type 2 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 ゴーシェ病3型 Gaucher disease type 3 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:2200927 http://nanbyodata.jp/ontology/NANDO_2200927 新生児ヘモクロマトーシス Neonatal hemochromatosis 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:2201153 http://nanbyodata.jp/ontology/NANDO_2201153 糖原病Ia型 Glycogen storage disease type 1a 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 糖原病Ib型 Glycogen storage disease type 1b 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:2200973 http://nanbyodata.jp/ontology/NANDO_2200973 ハーラマン・ストライフ症候群 Hallermann-Streiff syndrome 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:2200886 http://nanbyodata.jp/ontology/NANDO_2200886 パントテン酸キナーゼ関連神経変性症 Pantothenate kinase-associated neurodegeneration 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:2200981 http://nanbyodata.jp/ontology/NANDO_2200981 モワット・ウィルソン症候群 Mowat-Wilson syndrome 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:2201109 http://nanbyodata.jp/ontology/NANDO_2201109 コバラミン代謝異常 cblE Methylcobalamin deficiency cblE type 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:2201151 http://nanbyodata.jp/ontology/NANDO_2201151 糖原病0a型 Glycogen storage disease type 0a 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:2200992 http://nanbyodata.jp/ontology/NANDO_2200992 道化師様魚鱗癬 Harlequin ichthyosis 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:2201190 http://nanbyodata.jp/ontology/NANDO_2201190 β-マンノシドーシス Beta-mannosidosis 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 若年型異染性白質ジストロフィー Metachromatic leukodystrophy, juvenile form 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:2201111 http://nanbyodata.jp/ontology/NANDO_2201111 コバラミン代謝異常 cblG Methylcobalamin deficiency cblG type 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 コバラミン代謝異常 cblA Methylmalonic acidemia cblA type 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 コバラミン代謝異常 cblB Methylmalonic acidemia cblB type 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:2200913 http://nanbyodata.jp/ontology/NANDO_2200913 微絨毛封入体病 Microvillus inclusion disease 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:2201174 http://nanbyodata.jp/ontology/NANDO_2201174 A型ムコ多糖症III型 Mucopolysaccharidosis type III A 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 B型ムコ多糖症III型 Mucopolysaccharidosis type III B 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:2201176 http://nanbyodata.jp/ontology/NANDO_2201176 C型ムコ多糖症III型 Mucopolysaccharidosis type III C 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 D型ムコ多糖症III型 Mucopolysaccharidosis type III D 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 A型ムコ多糖症IV型 Mucopolysaccharidosis type IV A 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 B型ムコ多糖症IV型 Mucopolysaccharidosis type IV B 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:2200906 http://nanbyodata.jp/ontology/NANDO_2200906 重症筋無力症 Myasthenia gravis 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:2200881 http://nanbyodata.jp/ontology/NANDO_2200881 ラフォラ病 Lafora disease 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:2100307 http://nanbyodata.jp/ontology/NANDO_2100307 遺伝性周期性四肢麻痺 Hereditary hyperkalemic periodic paralysis 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:2201266 http://nanbyodata.jp/ontology/NANDO_2201266 赤芽球性プロトポルフィリン症 Erythropoietic protoporphyria MONDO:0001676 http://purl.obolibrary.org/obo/MONDO_0001676 http://www.w3.org/2004/02/skos/core#exactMatch 赤芽球性プロトポルフィリン症 erythropoietic protoporphyria Orphanet:659681 https://www.orpha.net/en/disease/detail/659681 NANDO:2201275 http://nanbyodata.jp/ontology/NANDO_2201275 先天性再生不良性貧血 Congenital aplastic anemia MONDO:0001713 http://purl.obolibrary.org/obo/MONDO_0001713 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性再生不良性貧血 inherited aplastic anemia Orphanet:68383 https://www.orpha.net/en/disease/detail/68383 NANDO:2201275 http://nanbyodata.jp/ontology/NANDO_2201275 先天性再生不良性貧血 Congenital aplastic anemia MONDO:0001713 http://purl.obolibrary.org/obo/MONDO_0001713 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性再生不良性貧血 inherited aplastic anemia Orphanet:397692 https://www.orpha.net/en/disease/detail/397692 NANDO:2201453 http://nanbyodata.jp/ontology/NANDO_2201453 Jervell Lange Nielsen症候群 Jervell Lange Nielsen syndrome 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 鰓耳腎症候群 Branchio-oto-renal syndrome 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:2201354 http://nanbyodata.jp/ontology/NANDO_2201354 Stickler症候群1型 Stickler syndrome type 1 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 脛骨・中手骨型点状軟骨異形成症 Chondrodysplasia punctata, tibial-metacarpal type 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:2201264 http://nanbyodata.jp/ontology/NANDO_2201264 遺伝性コプロポルフィリン症 Hereditary coproporphyria 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 古典型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, classical type 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 関節型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, hypermobility type 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 多発関節弛緩型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, arthrochalasis type 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:2201392 http://nanbyodata.jp/ontology/NANDO_2201392 ホルト・オーラム症候群 Holt-Oram syndrome 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:2201347 http://nanbyodata.jp/ontology/NANDO_2201347 扁平椎異形成症 Torrance型 Platyspondylic dysplasia, Torrance type MONDO:0007895 http://purl.obolibrary.org/obo/MONDO_0007895 http://www.w3.org/2004/02/skos/core#exactMatch 扁平脊椎異形成症, Torrance型 platyspondylic dysplasia, Torrance type Orphanet:85166 https://www.orpha.net/en/disease/detail/85166 NANDO:1201158 http://nanbyodata.jp/ontology/NANDO_1201158 マルファン症候群 Marfan syndrome 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 マルファン症候群 Marfan syndrome 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:2201364 http://nanbyodata.jp/ontology/NANDO_2201364 流蝋骨症 Melorheostosis 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 Kniest異形成症 Kniest dysplasia 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:1201132 http://nanbyodata.jp/ontology/NANDO_1201132 若年性皮膚筋炎 juvnile dermatomyositis 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:2201512 http://nanbyodata.jp/ontology/NANDO_2201512 先天性パラミオトニー Paramyotonia congenita 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 遺伝性低カリウム性周期性四肢麻痺 Hereditary hypokalemic periodic paralysis 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 遺伝性高カリウム性周期性四肢麻痺 Hereditary hyperkalemic periodic paralysis 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:2201386 http://nanbyodata.jp/ontology/NANDO_2201386 常染色体優性尿細管間質性腎疾患 Autosomal dominant tubulointerstitial kidney disease 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疾患 autosomal dominant medullary cystic kidney disease with or without hyperuricemia Orphanet:34149 https://www.orpha.net/en/disease/detail/34149 NANDO:2201263 http://nanbyodata.jp/ontology/NANDO_2201263 急性間欠性ポルフィリン症 Acute intermittent porphyria 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 異型ポルフィリン症 Variegate porphyria 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:2201348 http://nanbyodata.jp/ontology/NANDO_2201348 先天性脊椎骨端異形成症 Spondyloepiphyseal dysplasia congenita 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 脊椎骨端骨幹端異形成症 Strudwick型 Spondyloepimetaphyseal dysplasia, Strudwick type 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:2201427 http://nanbyodata.jp/ontology/NANDO_2201427 タナトフォリック骨異形成症1型 Thanatophoric dysplasia type 1 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 タナトフォリック骨異形成症2型 Thanatophoric dysplasia type 2 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:2201345 http://nanbyodata.jp/ontology/NANDO_2201345 軟骨無発生症2型 Achondrogenesis type 2 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:1201109 http://nanbyodata.jp/ontology/NANDO_1201109 極長鎖アシル-CoA 脱水素酵素欠損症 very long-chain acyl-CoA dehydrogenase 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:2201436 http://nanbyodata.jp/ontology/NANDO_2201436 進行性家族性肝内胆汁うっ滞症1型 Progressive familial intrahepatic cholestasis type 1 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:2201361 http://nanbyodata.jp/ontology/NANDO_2201361 Greenberg骨異形成症 Greenberg dysplasia 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:2201418 http://nanbyodata.jp/ontology/NANDO_2201418 コーエン症候群 Cohen syndrome 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:2201368 http://nanbyodata.jp/ontology/NANDO_2201368 頭蓋骨幹異形成症 Craniodiaphyseal dysplasia 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:2201530 http://nanbyodata.jp/ontology/NANDO_2201530 バレー・ジェロルド症候群 Baller-Gerold symdrome 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:2201236 http://nanbyodata.jp/ontology/NANDO_2201236 非腎型シスチン症 Non-nephropathic cystinosis 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 中間型シスチン症 Intermediate cystinosis 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:2201365 http://nanbyodata.jp/ontology/NANDO_2201365 異骨性骨硬化症 Dysosteosclerosis 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:2201261 http://nanbyodata.jp/ontology/NANDO_2201261 皮膚脆弱型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, dermatosparaxis type 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:2201383 http://nanbyodata.jp/ontology/NANDO_2201383 劣性重症汎発型栄養障害型表皮水疱症 Recessive dystrophic epidermolysis bullosa, generalized severe 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 筋ジストロフィー合併型表皮水疱症 Epidermolysis bullosa simplex with muscular dystrophy 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 ヘルリッツ型表皮水疱症 Herlitz junctional epidermolysis bullosa 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 幽門閉鎖合併型表皮水疱症 Junctional epidermolysis bullosa with pyloric atresia MONDO:0009183 http://purl.obolibrary.org/obo/MONDO_0009183 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型幽門閉鎖症合併型表皮水疱症 junctional epidermolysis bullosa with pyloric atresia Orphanet:79403 https://www.orpha.net/en/disease/detail/79403 NANDO:2201476 http://nanbyodata.jp/ontology/NANDO_2201476 古典的ホジキンリンパ腫 Classical Hodgkin's lymphoma 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 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 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 ランドウ・クレフナー症候群 Landau-Kleffner syndrome 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:2201385 http://nanbyodata.jp/ontology/NANDO_2201385 ギャロウェイ・モワト症候群 Galloway-Mowat syndrome 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:2201430 http://nanbyodata.jp/ontology/NANDO_2201430 脊髄性筋萎縮症I型 Spinal muscular atrophy type I 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 脊髄性筋萎縮症III型 Spinal muscular atrophy type III 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 脊髄性筋萎縮症II型 Spinal muscular atrophy type II 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:1200175 http://nanbyodata.jp/ontology/NANDO_1200175 リー脳症 Leigh's encephalomyelopathy 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 ガラクトシアリドーシス Galactosialidosis 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 シアリドーシスII型 Sialidosis type 2 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:1200061 http://nanbyodata.jp/ontology/NANDO_1200061 ニーマン・ピック病A型 Niemann-Pick disease type A 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:1200195 http://nanbyodata.jp/ontology/NANDO_1200195 亜急性硬化性全脳炎 Subacute sclerosing panencephalitis 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:1200072 http://nanbyodata.jp/ontology/NANDO_1200072 サンドホフ病 Sandhoff disease 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:1200147 http://nanbyodata.jp/ontology/NANDO_1200147 乳児型遊離シアル酸蓄積症 Infantile free sialic acid storage disease 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:1200007 http://nanbyodata.jp/ontology/NANDO_1200007 脊髄性筋萎縮症IV型 Spinal muscular atrophy type IV 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:1200083 http://nanbyodata.jp/ontology/NANDO_1200083 マルチプルサルファターゼ欠損症 Multiple sulfatase deficiency 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:1200073 http://nanbyodata.jp/ontology/NANDO_1200073 AB型GM2ガングリオシドーシス GM2 gangliosidosis AB variant 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 Tay-Sachs病 Tay-Sachs disease 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 ビタミンE単独欠乏性失調症 Ataxia with isolated vitamin E deficiency 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:1200166 http://nanbyodata.jp/ontology/NANDO_1200166 小児大脳型副腎白質ジストロフィー Childhood cerebral adrenoleukodystrophy 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:1200222 http://nanbyodata.jp/ontology/NANDO_1200222 ダノン病 Danon disease 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:1200157 http://nanbyodata.jp/ontology/NANDO_1200157 ファブリー病 Fabry disease 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 Hunter症候群 Hunter syndrome 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 Hunter症候群 Hunter syndrome 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:1200001 http://nanbyodata.jp/ontology/NANDO_1200001 球脊髄性筋萎縮症 Spinal and bulbar muscular atrophy 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:1200176 http://nanbyodata.jp/ontology/NANDO_1200176 ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome 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 赤色ぼろ線維・ミオクローヌスてんかん症候群 Myoclonus epilepsy associated with ragged-red fibers 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:1200191 http://nanbyodata.jp/ontology/NANDO_1200191 致死性家族性不眠症 Fatal familial insomnia 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:1200115 http://nanbyodata.jp/ontology/NANDO_1200115 ヒアルロニダーゼ欠損症 Hyaluronidase deficiency 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:1200218 http://nanbyodata.jp/ontology/NANDO_1200218 縁取り空胞を伴う遠位型ミオパチー Distal myopathy with rimmed vacuoles 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:1200094 http://nanbyodata.jp/ontology/NANDO_1200094 ハーラー病 Hurler disease 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 ハーラー／シェイエ病 Hurler-Scheie disease 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 シェイエ病 Scheie disease 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:1200062 http://nanbyodata.jp/ontology/NANDO_1200062 ニーマン・ピック病B型 Niemann-Pick disease type B 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:1200135 http://nanbyodata.jp/ontology/NANDO_1200135 シンドラー病I型 Schindler disease type I 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 シンドラー病II型 Schindler disease type 2 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:1200048 http://nanbyodata.jp/ontology/NANDO_1200048 脊髄小脳失調症36型 Spinocerebellar ataxia type 36 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 痙性対麻痺（純粋型） Pure hereditary spastic paraplegia 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 痙性対麻痺（複合型） Complex hereditary spastic paraplegia 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:1200168 http://nanbyodata.jp/ontology/NANDO_1200168 副腎脊髄ニューロパチー Adrenomyeloneuropathy 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:1200016 http://nanbyodata.jp/ontology/NANDO_1200016 シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease 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:1200187 http://nanbyodata.jp/ontology/NANDO_1200187 孤発性クロイツフェルト・ヤコブ病 Sporadic Creutzfeldt-Jakob disease 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:1200075 http://nanbyodata.jp/ontology/NANDO_1200075 乳児型クラッベ病 Infantile Krabbe disease 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 成人型クラッベ病 Adult Krabbe disease 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:1200161 http://nanbyodata.jp/ontology/NANDO_1200161 シスチン症 Cystinosis 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 セロイドリポフスチノーシス Neuronal ceroid-lipofuscinosis MONDO:0016295 http://purl.obolibrary.org/obo/MONDO_0016295 http://www.w3.org/2004/02/skos/core#exactMatch 神経セロイドリポフスチン症 neuronal ceroid lipofuscinosis Orphanet:216 https://www.orpha.net/en/disease/detail/216 NANDO:1200065 http://nanbyodata.jp/ontology/NANDO_1200065 成人型ニーマン・ピック病C型 Adult-onset Niemann-Pick disease type C 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:1200098 http://nanbyodata.jp/ontology/NANDO_1200098 ハンター症候群（重症型） Hunter syndrome type A 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 ハンター症候群（軽症型） Hunter syndrome type B 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:1200205 http://nanbyodata.jp/ontology/NANDO_1200205 進行性多巣性白質脳症 Progressive multifocal leukoencephalopathy 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:1200035 http://nanbyodata.jp/ontology/NANDO_1200035 MSA-C Multiple system atrophy, cerebellar type MONDO:0016418 http://purl.obolibrary.org/obo/MONDO_0016418 http://www.w3.org/2004/02/skos/core#exactMatch 多系統萎縮症, 小脳型 multiple system atrophy, cerebellar type Orphanet:227510 https://www.orpha.net/en/disease/detail/227510 NANDO:1200028 http://nanbyodata.jp/ontology/NANDO_1200028 Baló病 Baló concentric sclerosis MONDO:0016430 http://purl.obolibrary.org/obo/MONDO_0016430 http://www.w3.org/2004/02/skos/core#exactMatch バロー同心円性硬化症 Balo concentric sclerosis Orphanet:228165 https://www.orpha.net/en/disease/detail/228165 NANDO:1200183 http://nanbyodata.jp/ontology/NANDO_1200183 もやもや病 Moyamoya disease 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:1200013 http://nanbyodata.jp/ontology/NANDO_1200013 神経有棘赤血球症 Neuroacanthocytosis 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 クロウ・深瀬症候群 Crow-Fukase syndrome 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:1200139 http://nanbyodata.jp/ontology/NANDO_1200139 乳児型ポンペ病 Classic infantile Pompe disease 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:1200070 http://nanbyodata.jp/ontology/NANDO_1200070 GM2ガングリオシドーシス GM2 gangliosidosis 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 後期乳児型異染性白質ジストロフィー Late infantile metachromatic leukodystrophy 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 成人型異染性白質ジストロフィー Adult metachromatic leukodystrophy 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:1200127 http://nanbyodata.jp/ontology/NANDO_1200127 乳児型α - マンノシドーシス Alpha-mannosidosis, infantile form 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 若年成人型α - マンノシドーシス Alpha-mannosidosis, adult form 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 シアリドーシス Sialidosis 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 中間型遊離シアル酸蓄積症 Intermediate severe Salla disease MONDO:0017737 http://purl.obolibrary.org/obo/MONDO_0017737 http://www.w3.org/2004/02/skos/core#exactMatch 中間型重症サラ病 intermediate severe Salla disease Orphanet:309331 https://www.orpha.net/en/disease/detail/309331 NANDO:1200134 http://nanbyodata.jp/ontology/NANDO_1200134 シンドラー病 Schindler disease 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:1200209 http://nanbyodata.jp/ontology/NANDO_1200209 全身性アミロイドーシス Systemic amyloidosis 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:1200212 http://nanbyodata.jp/ontology/NANDO_1200212 全身性野生型トランスサイレチンアミロイドーシス wild-type transthyretin amyloidosis 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:1200066 http://nanbyodata.jp/ontology/NANDO_1200066 GM1ガングリオシドーシス GM1 gangliosidosis 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 ゴーシェ病 Gaucher disease 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 原発性側索硬化症 Primary lateral sclerosis 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:1200165 http://nanbyodata.jp/ontology/NANDO_1200165 副腎白質ジストロフィー Adrenoleukodystrophy 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:1200192 http://nanbyodata.jp/ontology/NANDO_1200192 獲得性クロイツフェルト・ヤコブ病 Environmentally acquired Creutzfeldt-Jakob disease 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:1200019 http://nanbyodata.jp/ontology/NANDO_1200019 中間型シャルコー・マリー・トゥース病 Intermediate Charcot-Marie-Tooth disease 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 異染性白質ジストロフィー Metachromatic leukodystrophy 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:1200125 http://nanbyodata.jp/ontology/NANDO_1200125 ムコリピドーシスIII型 Mucolipidosis III 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 ムコリピドーシスIII型 Mucolipidosis III 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 サンフィリッポ症候群 Sanfilippo disease 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 モルキオ症候群 Morquio syndrome 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:1200021 http://nanbyodata.jp/ontology/NANDO_1200021 先天性筋無力症候群 Congenital myasthenic syndrome 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 Mcleod症候群 McLeod syndrome MONDO:0018945 http://purl.obolibrary.org/obo/MONDO_0018945 http://www.w3.org/2004/02/skos/core#exactMatch XK関連神経変性疾患 XK-related neurodegenerative disease Orphanet:59306 https://www.orpha.net/en/disease/detail/59306 NANDO:1200216 http://nanbyodata.jp/ontology/NANDO_1200216 遠位型ミオパチー Distal myopathy 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:1200031 http://nanbyodata.jp/ontology/NANDO_1200031 多巣性運動ニューロパチー Multifocal motor neuropathy 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 ニーマン・ピック病C型 Niemann-Pick disease type C 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 軸索型シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease type 2 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 脱髄型シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease type 1 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 進行性核上性麻痺 Progressive supranuclear palsy 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 染色体または遺伝子に変化を伴う症候群 Chromosome abnormality MONDO:0019040 http://purl.obolibrary.org/obo/MONDO_0019040 http://www.w3.org/2004/02/skos/core#exactMatch 染色体異常 chromosomal disorder Orphanet:68335 https://www.orpha.net/en/disease/detail/68335 NANDO:1100001 http://nanbyodata.jp/ontology/NANDO_1100001 神経・筋疾患 Neuromuscular disease 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 痙性対麻痺 Hereditary spastic paraplegia 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 視神経脊髄炎 Neuromyelitis optica spectrum disorders 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:1200143 http://nanbyodata.jp/ontology/NANDO_1200143 ウォルマン病 Wolman disease 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 コレステロールエステル蓄積症 Cholesterol ester storage disease 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 シンドラー病III型 Schindler disease type 3 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 シアリドーシスI型 Sialidosis type 1 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 遊離シアル酸蓄積症 Free sialic acid storage disease 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:1200224 http://nanbyodata.jp/ontology/NANDO_1200224 シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome 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:1200338 http://nanbyodata.jp/ontology/NANDO_1200338 ネザートン症候群 Netherton syndrome 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 シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome 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:1200422 http://nanbyodata.jp/ontology/NANDO_1200422 剥離型間質性肺炎 Desquamative interstitial pneumonia 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 常染色体劣性多発性嚢胞腎 Autosomal recessive polycystic kidney disease MONDO:0009889 http://purl.obolibrary.org/obo/MONDO_0009889 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性多発性嚢胞腎 autosomal recessive polycystic kidney disease Orphanet:731 https://www.orpha.net/en/disease/detail/731 NANDO:1200427 http://nanbyodata.jp/ontology/NANDO_1200427 肺静脈閉塞症 Pulmonary veno-occlusive disease 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:1200322 http://nanbyodata.jp/ontology/NANDO_1200322 細網異形成症 Reticular dysgenesis 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 ZAP-70欠損症 Zap-70 deficiency 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:1200279 http://nanbyodata.jp/ontology/NANDO_1200279 シェーグレン症候群 Sjogren's syndrome 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 先天性血栓性血小板減少性紫斑病 Congenital thrombotic thrombocytopenic purpura 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 免疫不全を伴う無汗性外胚葉形成異常症 Anhidrotic ectodermal dysplasia with immunodeficiency 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 X連鎖重症複合免疫不全症 X-linked severe combined immunodeficiency 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 X連鎖無ガンマグロブリン血症 X-linked agammaglobulinemia 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 ウィスコット・オルドリッチ症候群 Wiskott-Aldrich syndrome 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 X連鎖リンパ増殖症候群 X-linked lymphoproliferative syndrome 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:1200223 http://nanbyodata.jp/ontology/NANDO_1200223 過剰自己貪食を伴うＸ連鎖性ミオパチー X-linked Myopathy with excessive autophagy 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:1200378 http://nanbyodata.jp/ontology/NANDO_1200378 下垂体性PRL分泌亢進症 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome 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 バッド・キアリ症候群 Budd-Chiari syndrome 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:1200324 http://nanbyodata.jp/ontology/NANDO_1200324 オーメン症候群 Omenn syndrome 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 MHCクラスI欠損症 MHC class I deficiency 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 IRAK4欠損症 IRAK4 deficiency 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:1200263 http://nanbyodata.jp/ontology/NANDO_1200263 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis 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:1200373 http://nanbyodata.jp/ontology/NANDO_1200373 特発性大腿骨頭壊死症 Idiopathic osteonecrosis of femoral head 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:1200326 http://nanbyodata.jp/ontology/NANDO_1200326 CD8欠損症 CD8 deficiency 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 特発性再生不良性貧血 Idiopathic aplastic anemia 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 RIDDLE症候群 RIDDLE syndrome 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:1200429 http://nanbyodata.jp/ontology/NANDO_1200429 慢性血栓塞栓性肺高血圧症 Chronic thromboembolic pulmonary hypertension 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:1200325 http://nanbyodata.jp/ontology/NANDO_1200325 プリンヌクレオシドホスホリラーゼ欠損症 Purine nucleoside phosphorylase deficiency 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:1200402 http://nanbyodata.jp/ontology/NANDO_1200402 P450酸化還元酵素欠損症 P450 oxidoreductase deficiency MONDO:0013310 http://purl.obolibrary.org/obo/MONDO_0013310 http://www.w3.org/2004/02/skos/core#exactMatch シトクロムP450酸化還元酵素欠損による先天性副腎過形成 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 原発性硬化性胆管炎 Primary sclerosing cholangitis 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:1200244 http://nanbyodata.jp/ontology/NANDO_1200244 稽留性肢端皮膚炎の汎発化 Acrodermatitis continua of Hallopeau 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 稽留性肢端皮膚炎の汎発化 Acrodermatitis continua of Hallopeau 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:1200406 http://nanbyodata.jp/ontology/NANDO_1200406 IMAge症候群 IMAge syndrome 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 アジソン病 Addison's disease MONDO:0015129 http://purl.obolibrary.org/obo/MONDO_0015129 http://www.w3.org/2004/02/skos/core#exactMatch 慢性原発性副腎機能不全 chronic primary adrenal insufficiency Orphanet:101959 https://www.orpha.net/en/disease/detail/101959 NANDO:1200421 http://nanbyodata.jp/ontology/NANDO_1200421 特発性器質化肺炎 Cryptogenic organizing pneumonia 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:1200363 http://nanbyodata.jp/ontology/NANDO_1200363 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis 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:1200349 http://nanbyodata.jp/ontology/NANDO_1200349 乳児一過性低ガンマグロブリン血症 Transient hypogammaglobulinemia of infancy with normal numbers of B cells 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 先天性角化不全症 Dyskeratosis congenita 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:1200375 http://nanbyodata.jp/ontology/NANDO_1200375 中枢性尿崩症 Central diabetes insipidus 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:1200295 http://nanbyodata.jp/ontology/NANDO_1200295 再生不良性貧血 Aplastic anemia 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:1200425 http://nanbyodata.jp/ontology/NANDO_1200425 肺動脈性肺高血圧症 Pulmonary arterial hypertension 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:422 https://www.orpha.net/en/disease/detail/422 NANDO:1200425 http://nanbyodata.jp/ontology/NANDO_1200425 肺動脈性肺高血圧症 Pulmonary arterial hypertension 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:1200264 http://nanbyodata.jp/ontology/NANDO_1200264 好酸球性多発血管炎性肉芽腫症 Eosinophilic granulomatosis with polyangiitis 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:1200310 http://nanbyodata.jp/ontology/NANDO_1200310 エヴァンズ症候群 Evans syndrome 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:1200457 http://nanbyodata.jp/ontology/NANDO_1200457 好酸球性胃腸炎 Eosinophilic gastroenteritis 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:1200441 http://nanbyodata.jp/ontology/NANDO_1200441 自己免疫性肝炎 Autoimmune hepatitis 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:1200294 http://nanbyodata.jp/ontology/NANDO_1200294 二次性拘束型心筋症 Secondary restrictive cardiomyopathy 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 皮膚筋炎 Dermatomyositis 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:1200390 http://nanbyodata.jp/ontology/NANDO_1200390 甲状腺刺激ホルモン分泌低下症 Thyroid-stimulating hormone deficiency MONDO:0016410 http://purl.obolibrary.org/obo/MONDO_0016410 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性先天性甲状腺機能低下症 central congenital hypothyroidism Orphanet:226298 https://www.orpha.net/en/disease/detail/226298 NANDO:1200355 http://nanbyodata.jp/ontology/NANDO_1200355 白血球接着不全症 Leukocyte adhesion deficiency 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:1200458 http://nanbyodata.jp/ontology/NANDO_1200458 慢性特発性偽性腸閉塞症 Chronic idiopathic intestinal pseudo-obstruction 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:1200235 http://nanbyodata.jp/ontology/NANDO_1200235 単純型表皮水疱症 Epidermolysis bullosa simplex 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 接合部型表皮水疱症 Junctional epidermolysis bullosa 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:1200352 http://nanbyodata.jp/ontology/NANDO_1200352 自己免疫性リンパ増殖症候群 Autoimmune lymphoproliferative syndrome 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:1200251 http://nanbyodata.jp/ontology/NANDO_1200251 高安動脈炎 Takayasu arteritis 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 高安動脈炎 Takayasu arteritis 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:1200340 http://nanbyodata.jp/ontology/NANDO_1200340 高IgE症候群 Hyper-IgE syndrome 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:1200245 http://nanbyodata.jp/ontology/NANDO_1200245 スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome 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:1200357 http://nanbyodata.jp/ontology/NANDO_1200357 慢性肉芽腫症 Chronic granulomatous disease 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:1200394 http://nanbyodata.jp/ontology/NANDO_1200394 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia 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 好酸球性消化管疾患 Eosinophilic gastrointestinal disorders 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:1200397 http://nanbyodata.jp/ontology/NANDO_1200397 リポイド副腎過形成症 Congenital lipoid adrenal hyperplasia 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:1200353 http://nanbyodata.jp/ontology/NANDO_1200353 重症先天性好中球減少症 Severe congenital neutropenia 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:1200426 http://nanbyodata.jp/ontology/NANDO_1200426 肺静脈閉塞症／肺毛細血管腫症 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis 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 ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism 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:1200270 http://nanbyodata.jp/ontology/NANDO_1200270 劇症型原発性抗リン脂質抗体症候群 Catastrophic antiphospholipid syndrome 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:1200316 http://nanbyodata.jp/ontology/NANDO_1200316 血栓性血小板減少性紫斑病 Thrombotic thrombocytopenic purpura 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 寒冷凝集素症 Cold agglutinin disease 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:1200231 http://nanbyodata.jp/ontology/NANDO_1200231 腫瘍随伴性天疱瘡 Paraneoplastic pemphigus 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:1200226 http://nanbyodata.jp/ontology/NANDO_1200226 神経線維腫症I型 Neurofibromatosis type 1 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 顕微鏡的多発血管炎 Microscopic polyangiitis 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:1200283 http://nanbyodata.jp/ontology/NANDO_1200283 再発性多発軟骨炎 Relapsing polychondritis 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 多発性筋炎 Polymyositis 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 メンデル遺伝型マイコバクテリア易感染症 Mendelian susceptibility to mycobacterial disease 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:1200381 http://nanbyodata.jp/ontology/NANDO_1200381 中枢性思春期早発症 Central precocious puberty 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:1200261 http://nanbyodata.jp/ontology/NANDO_1200261 結節性多発動脈炎 Polyarteritis nodosa 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:1200431 http://nanbyodata.jp/ontology/NANDO_1200431 網膜色素変性症 Retinitis pigmentosa 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 急性間質性肺炎 Acute interstitial pneumonia 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:1200232 http://nanbyodata.jp/ontology/NANDO_1200232 増殖性天疱瘡 Pemphigus vegetans 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 紅斑性天疱瘡 Pemphigus erythematosus 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 落葉状天疱瘡 Pemphigus foliaceus 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:1200415 http://nanbyodata.jp/ontology/NANDO_1200415 サルコイドーシス Sarcoidosis 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:1200282 http://nanbyodata.jp/ontology/NANDO_1200282 成人発症スチル病 Adult-onset Still disease 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:1200497 http://nanbyodata.jp/ontology/NANDO_1200497 先天性ミオトニー Myotonia congenita 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 先天性筋線維タイプ不均等症 Congenital fiber-type disproportion myopathy 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:1200553 http://nanbyodata.jp/ontology/NANDO_1200553 先天性無痛無汗症 Congenital insensitivity to pain with anhidrosis MONDO:0009746 http://purl.obolibrary.org/obo/MONDO_0009746 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性感覚・自律性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:1200599 http://nanbyodata.jp/ontology/NANDO_1200599 PCDH19関連症候群 PCDH19-related syndrome 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:1200489 http://nanbyodata.jp/ontology/NANDO_1200489 ベッカー型筋ジストロフィー Becker muscular dystrophy 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:1200580 http://nanbyodata.jp/ontology/NANDO_1200580 アラン・ハーンドン・タドリー症候群 Allan-Herndon-Dudley syndrome 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 アイカルディ症候群 Aicardi syndrome 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:1200488 http://nanbyodata.jp/ontology/NANDO_1200488 デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy 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:1200576 http://nanbyodata.jp/ontology/NANDO_1200576 ペリツェウス・メルツバッハ病 Pelizaeus-Merzbacher disease 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 Pelizaeus-Merzbacher spectrum disorder Orphanet:702 https://www.orpha.net/en/disease/detail/702 NANDO:1200603 http://nanbyodata.jp/ontology/NANDO_1200603 レット症候群 Rett syndrome 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:1200514 http://nanbyodata.jp/ontology/NANDO_1200514 DYT3ジストニア Dystonia 3 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-パーキンソン症候群 X-linked dystonia-parkinsonism Orphanet:53351 https://www.orpha.net/en/disease/detail/53351 NANDO:1200544 http://nanbyodata.jp/ontology/NANDO_1200544 HTRA1関連脳小血管病 HTRA1-Related Cerebral Small Vessel Disease 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:1200550 http://nanbyodata.jp/ontology/NANDO_1200550 意味性認知症 Semantic dementia 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:1200520 http://nanbyodata.jp/ontology/NANDO_1200520 DYT9ジストニア Dystonia 9 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 小脳失調症深部反射消失凹足視神経萎縮感覚神経障害性聴覚障害 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss 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:1200579 http://nanbyodata.jp/ontology/NANDO_1200579 18q欠失症候群 18q-syndrome 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 18q欠失症候群 18q-syndrome 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:1200517 http://nanbyodata.jp/ontology/NANDO_1200517 DYT6ジストニア Dystonia 6 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:1200469 http://nanbyodata.jp/ontology/NANDO_1200469 若年性特発性関節炎 Juvenile idiopathic arthritis 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:1200582 http://nanbyodata.jp/ontology/NANDO_1200582 サラ病 Salla disease 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:1200468 http://nanbyodata.jp/ontology/NANDO_1200468 慢性乳児神経皮膚関節症候群 Chronic infantile neurological cutaneous articular syndrome 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 DYT13ジストニア Dystonia 13 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:1200586 http://nanbyodata.jp/ontology/NANDO_1200586 脱髄型末梢神経障害、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease 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 先天性白内障を伴う髄鞘形成不全症 Hypomyelination and congenital cataract 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:1200529 http://nanbyodata.jp/ontology/NANDO_1200529 DYT16ジストニア Dystonia 16 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 DYT18ジストニア Dystonia 18 MONDO:0012805 http://purl.obolibrary.org/obo/MONDO_0012805 http://www.w3.org/2004/02/skos/core#exactMatch 小児期発症GLUT1欠損症候群2 childhood onset GLUT1 deficiency syndrome 2 Orphanet:98811 https://www.orpha.net/en/disease/detail/98811 NANDO:1200581 http://nanbyodata.jp/ontology/NANDO_1200581 HSP60シャペロン病 Mitochondrial Hsp60 chaperonopathy 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:1200530 http://nanbyodata.jp/ontology/NANDO_1200530 DYT17ジストニア Dystonia 17 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:1200578 http://nanbyodata.jp/ontology/NANDO_1200578 基底核および小脳萎縮を伴う髄鞘形成不全症 Hypomyelination with atrophy of the basal ganglia and cerebellum 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:1200540 http://nanbyodata.jp/ontology/NANDO_1200540 脳内鉄沈着神経変性症4型 Neurodegeneration with brain iron accumulation type 4 MONDO:0013674 http://purl.obolibrary.org/obo/MONDO_0013674 http://www.w3.org/2004/02/skos/core#exactMatch 脳内鉄沈着神経変性症4 neurodegeneration with brain iron accumulation 4 Orphanet:289560 https://www.orpha.net/en/disease/detail/289560 NANDO:1200462 http://nanbyodata.jp/ontology/NANDO_1200462 CFC症候群 CFC Syndrome 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:1200597 http://nanbyodata.jp/ontology/NANDO_1200597 環状20番染色体症候群 Ring chromosome 20 syndrome 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 難治頻回部分発作重積型急性脳炎 Acute encephalitis with refractory, repetitive partial seizures MONDO:0015584 http://purl.obolibrary.org/obo/MONDO_0015584 http://www.w3.org/2004/02/skos/core#exactMatch 熱性感染症関連てんかん症候群 febrile infection-related epilepsy syndrome Orphanet:163703 https://www.orpha.net/en/disease/detail/163703 NANDO:1200609 http://nanbyodata.jp/ontology/NANDO_1200609 先天性魚鱗癬 Congenital ichthyosis MONDO:0015947 http://purl.obolibrary.org/obo/MONDO_0015947 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性魚鱗癬 inherited ichthyosis Orphanet:183435 https://www.orpha.net/en/disease/detail/183435 NANDO:1200598 http://nanbyodata.jp/ontology/NANDO_1200598 ラスムッセン脳炎 Rasmussen's encephalitis MONDO:0016019 http://purl.obolibrary.org/obo/MONDO_0016019 http://www.w3.org/2004/02/skos/core#exactMatch ラスムッセン亜急性脳炎 Rasmussen subacute encephalitis Orphanet:1929 https://www.orpha.net/en/disease/detail/1929 NANDO:1200495 http://nanbyodata.jp/ontology/NANDO_1200495 筋強直性ジストロフィー Myotonic dystrophy 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 ジストロフィン異常症 Dystrophinopathies MONDO:0016147 http://purl.obolibrary.org/obo/MONDO_0016147 http://www.w3.org/2004/02/skos/core#exactMatch ジストロフィンの質的または量的欠損によって引き起こされる神経筋疾患 neuromuscular disease caused by qualitative or quantitative defects of dystrophin Orphanet:207085 https://www.orpha.net/en/disease/detail/207085 NANDO:1200465 http://nanbyodata.jp/ontology/NANDO_1200465 クリオピリン関連周期熱症候群 Cryopyrin-associated periodic syndrome 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 小児交互性片麻痺 Alternating hemiplegia of childhood 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:1200473 http://nanbyodata.jp/ontology/NANDO_1200473 非典型溶血性尿毒症症候群 Atypical hemolytic uremic syndrome 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 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 MONDO:0016304 http://purl.obolibrary.org/obo/MONDO_0016304 http://www.w3.org/2004/02/skos/core#exactMatch 古典型パントテン酸キナーゼ関連神経変性症 classic pantothenate kinase-associated neurodegeneration Orphanet:216866 https://www.orpha.net/en/disease/detail/216866 NANDO:1200536 http://nanbyodata.jp/ontology/NANDO_1200536 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 MONDO:0016305 http://purl.obolibrary.org/obo/MONDO_0016305 http://www.w3.org/2004/02/skos/core#exactMatch 非定型パントテン酸キナーゼ関連神経変性症 atypical pantothenate kinase-associated neurodegeneration Orphanet:216873 https://www.orpha.net/en/disease/detail/216873 NANDO:1200591 http://nanbyodata.jp/ontology/NANDO_1200591 レノックス・ガストー症候群 Lennox-Gastaut syndrome 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:1200543 http://nanbyodata.jp/ontology/NANDO_1200543 脳表ヘモジデリン沈着症 Superficial siderosis 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 DYT5aジストニア Dystonia 5a 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 エメリー・ドレイフス型筋ジストロフィー Emery-Dreifuss muscular dystrophy 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 肢帯型筋ジストロフィー Limb-girdle muscular dystrophy 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:1200565 http://nanbyodata.jp/ontology/NANDO_1200565 限局性皮質異形成タイプ1a Focal cortical dysplasia type 1a 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 限局性皮質異形成タイプ1b Focal cortical dysplasia type 1b 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 限局性皮質異形成タイプ1c Focal cortical dysplasia type 1c 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 限局性皮質異形成タイプ2a Focal cortical dysplasia type 2a 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 限局性皮質異形成タイプ2b Focal cortical dysplasia type 2b 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 （行動異常型）前頭側頭型認知症 Behavioral variant frontotemporal dementia MONDO:0017160 http://purl.obolibrary.org/obo/MONDO_0017160 http://www.w3.org/2004/02/skos/core#exactMatch 行動障害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 ペリツェウス・メルツバッハ様病１ Pelizaeus-Merzbacher like disease 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 道化師様魚鱗癬以外の常染色体劣性遺伝性魚鱗癬 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis 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 ケラチン症性魚鱗癬 Keratinopathic ichthyosis 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 前頭側頭葉変性症 Frontotemporal lobar degeneration 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 遊走性焦点発作を伴う乳児てんかん Epilepsy of infancy with migrating focal seizures MONDO:0017385 http://purl.obolibrary.org/obo/MONDO_0017385 http://www.w3.org/2004/02/skos/core#exactMatch 乳児悪性焦点移動性部分発作 malignant migrating partial seizures of infancy Orphanet:293181 https://www.orpha.net/en/disease/detail/293181 NANDO:1200605 http://nanbyodata.jp/ontology/NANDO_1200605 非典型的レット症候群 Atypical Rett syndrome 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 葉状魚鱗癬 Lamellar ichthyosis 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:1200506 http://nanbyodata.jp/ontology/NANDO_1200506 脊髄空洞症 Syringomyelia 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 FAHN Fatty acid hydroxylase-associated neurodegeneration MONDO:0017999 http://purl.obolibrary.org/obo/MONDO_0017999 http://www.w3.org/2004/02/skos/core#exactMatch 脂肪酸水酸化酵素関連神経変性症 fatty acid hydroxylase-associated neurodegeneration Orphanet:329308 https://www.orpha.net/en/disease/detail/329308 NANDO:1200592 http://nanbyodata.jp/ontology/NANDO_1200592 ウエスト症候群 West syndrome MONDO:0018097 http://purl.obolibrary.org/obo/MONDO_0018097 http://www.w3.org/2004/02/skos/core#exactMatch 点頭てんかん infantile spasms Orphanet:697160 https://www.orpha.net/en/disease/detail/697160 NANDO:1200552 http://nanbyodata.jp/ontology/NANDO_1200552 痙攣重積型（二相性）急性脳症 Acute encephalopathy with biphasic seizures and late reduced diffusion 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 大脳優位型アレキサンダー病 Alexander disease type I MONDO:0018209 http://purl.obolibrary.org/obo/MONDO_0018209 http://www.w3.org/2004/02/skos/core#exactMatch アレキサンダー病I型 Alexander disease type I Orphanet:363717 https://www.orpha.net/en/disease/detail/363717 NANDO:1200556 http://nanbyodata.jp/ontology/NANDO_1200556 延髄・脊髄優位型アレキサンダー病 Alexander disease type II MONDO:0018210 http://purl.obolibrary.org/obo/MONDO_0018210 http://www.w3.org/2004/02/skos/core#exactMatch アレキサンダー病II型 Alexander disease type II Orphanet:363722 https://www.orpha.net/en/disease/detail/363722 NANDO:1200583 http://nanbyodata.jp/ontology/NANDO_1200583 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 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:0018655 http://purl.obolibrary.org/obo/MONDO_0018655 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全-小脳萎縮-脳梁形成不全症候群 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Orphanet:447893 https://www.orpha.net/en/disease/detail/447893 NANDO:1200466 http://nanbyodata.jp/ontology/NANDO_1200466 家族性寒冷蕁麻疹 Familial cold autoinflammatorysyndrome MONDO:0018768 http://purl.obolibrary.org/obo/MONDO_0018768 http://www.w3.org/2004/02/skos/core#exactMatch 家族性寒冷自己炎症症候群 familial cold autoinflammatory syndrome Orphanet:47045 https://www.orpha.net/en/disease/detail/47045 NANDO:1200574 http://nanbyodata.jp/ontology/NANDO_1200574 神経細胞移動異常症 Neuronal migration defects 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:1200482 http://nanbyodata.jp/ontology/NANDO_1200482 中心核ミオパチー Centronuclear myopathy 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 ミニコア病 Minicore myopathy MONDO:0018948 http://purl.obolibrary.org/obo/MONDO_0018948 http://www.w3.org/2004/02/skos/core#exactMatch マルチミニコアミオパチー multiminicore myopathy Orphanet:598 https://www.orpha.net/en/disease/detail/598 NANDO:1200478 http://nanbyodata.jp/ontology/NANDO_1200478 ネマリンミオパチー Nemaline myopathy 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 ナトリウムチャネルミオトニー Sodium channel myotonia 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:1200564 http://nanbyodata.jp/ontology/NANDO_1200564 限局性皮質異形成 Focal cortical dysplasia 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 先天性大脳白質形成不全症 Congenital hypomyelinating leukodystrophy 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:1200461 http://nanbyodata.jp/ontology/NANDO_1200461 ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome 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:1200551 http://nanbyodata.jp/ontology/NANDO_1200551 ビッカースタッフ脳幹脳炎 Bickerstaff's brainstem encephalitis 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:1200616 http://nanbyodata.jp/ontology/NANDO_1200616 先天性魚鱗癬様紅皮症 Congenital ichthyosiform erythroderma 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:1200510 http://nanbyodata.jp/ontology/NANDO_1200510 アイザックス症候群 Isaacs syndrome 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 関節型若年性特発性関節炎 Articular-type juvenile idiopathic arthritis 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:1200773 http://nanbyodata.jp/ontology/NANDO_1200773 原発性高シュウ酸尿症I型 Primary hyperoxaluria type 1 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 D-二頭酵素欠損症 D-bifunctional protein deficiency MONDO:0009855 http://purl.obolibrary.org/obo/MONDO_0009855 http://www.w3.org/2004/02/skos/core#exactMatch d-二機能性タンパク欠乏症 d-bifunctional protein deficiency Orphanet:300 https://www.orpha.net/en/disease/detail/300 NANDO:1200784 http://nanbyodata.jp/ontology/NANDO_1200784 フェニルケトン尿症 Phenylketonuria 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 アシル CoA オキシダーゼ欠損症 Peroxisomal acyl-CoA oxidase deficiency 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 ビタミンD依存症1型 Vitamin D-dependent rickets, type 1 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:1200707 http://nanbyodata.jp/ontology/NANDO_1200707 心室中隔欠損を伴わない肺動脈閉鎖症 Pulmonary atresia with intact ventricular septum 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:1200769 http://nanbyodata.jp/ontology/NANDO_1200769 レフサム病 Refsum disease 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:1200671 http://nanbyodata.jp/ontology/NANDO_1200671 ロスムンド・トムソン症候群 Rothmund-Thomson syndrome 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:1200620 http://nanbyodata.jp/ontology/NANDO_1200620 シェーグレン・ラルソン症候群 Sjögren-Larsson syndrome 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:1200622 http://nanbyodata.jp/ontology/NANDO_1200622 ドルフマン・シャナリン症候群 Dorfman-Chanarin syndrome 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:1200789 http://nanbyodata.jp/ontology/NANDO_1200789 高チロシン血症2型 Tyrosinemia type 2 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 高チロシン血症1型 Tyrosinemia type 1 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 高チロシン血症3型 Tyrosinemia type 3 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 コバラミン代謝異常 cblD Methylmalonic acidemia CblD type 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:1200659 http://nanbyodata.jp/ontology/NANDO_1200659 ウィーバー症候群 Weaver syndrome 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 ウェルナー症候群 Werner syndrome 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 ウィルソン病 Wilson disease 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 脆弱 X 随伴振戦/失調症候群 Fragile X tremor/ataxia syndrome 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 脆弱X症候群 Fragile X syndrome 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 ATR-X症候群 ATR-X syndrome MONDO:0010519 http://purl.obolibrary.org/obo/MONDO_0010519 http://www.w3.org/2004/02/skos/core#exactMatch アルファサラセミア-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 コフィン・ローリー症候群 Coffin-Lowry syndrome 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 オクシピタル・ホーン症候群 Occipital horn syndrome 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:1200625 http://nanbyodata.jp/ontology/NANDO_1200625 X連鎖性劣性魚鱗癬症候群 Recessive X-linked ichtyosis MONDO:0010622 http://purl.obolibrary.org/obo/MONDO_0010622 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖潜性魚鱗癬 recessive X-linked ichthyosis Orphanet:461 https://www.orpha.net/en/disease/detail/461 NANDO:1200653 http://nanbyodata.jp/ontology/NANDO_1200653 メンケス病 Menkes disease 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:1200804 http://nanbyodata.jp/ontology/NANDO_1200804 OTC欠損症 Ornithine transcarbamylase deficiency 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:1200772 http://nanbyodata.jp/ontology/NANDO_1200772 根性点状軟骨異形成症3型 Rhizomelic chondrodysplasia punctata type 3 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:1200681 http://nanbyodata.jp/ontology/NANDO_1200681 ヤング・シンプソン症候群 Young-Simpson syndrome MONDO:0011365 http://purl.obolibrary.org/obo/MONDO_0011365 http://www.w3.org/2004/02/skos/core#exactMatch 瞼裂狭小-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 三尖弁閉鎖症 Tricuspid atresia 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:1200792 http://nanbyodata.jp/ontology/NANDO_1200792 プロピオン酸血症 Propionic acidemia 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:1200682 http://nanbyodata.jp/ontology/NANDO_1200682 1ｐ36欠失症候群 1p36 deletion syndrome 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 第14番染色体父親性ダイソミー症候群 Paternal uniparental disomy of chromosome 14 MONDO:0011975 http://purl.obolibrary.org/obo/MONDO_0011975 http://www.w3.org/2004/02/skos/core#exactMatch 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 エマヌエル症候群 Emanuel syndrome 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:1200747 http://nanbyodata.jp/ontology/NANDO_1200747 自己免疫性肺胞蛋白症 Autoimmune pulmonary alveolar proteinosis 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:1200750 http://nanbyodata.jp/ontology/NANDO_1200750 先天性肺胞蛋白症 Congenital alveolar proteinosis MONDO:0012580 http://purl.obolibrary.org/obo/MONDO_0012580 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性肺胞蛋白症 hereditary pulmonary alveolar proteinosis Orphanet:264675 https://www.orpha.net/en/disease/detail/264675 NANDO:1200755 http://nanbyodata.jp/ontology/NANDO_1200755 α1-アンチトリプシン欠損症 Alpha-1-antitrypsin deficiency 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 ステロールキャリアプロテインX欠損症 Sterol carrier protein 2 deficiency 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2欠乏症 sterol carrier protein 2 deficiency Orphanet:163684 https://www.orpha.net/en/disease/detail/163684 NANDO:1200774 http://nanbyodata.jp/ontology/NANDO_1200774 アカタラセミア Acatalasemia 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 一次性膜性増殖性糸球体腎炎I型 Primary membranoproliferative glomerulonephritis type I MONDO:0014005 http://purl.obolibrary.org/obo/MONDO_0014005 http://www.w3.org/2004/02/skos/core#exactMatch 免疫グロブリン介在膜性増殖性糸球体腎炎 immunoglobulin-mediated membranoproliferative glomerulonephritis Orphanet:329903 https://www.orpha.net/en/disease/detail/329903 NANDO:1200816 http://nanbyodata.jp/ontology/NANDO_1200816 晩発性皮膚ポルフィリン症 Porphyria cutanea tarda 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:1200745 http://nanbyodata.jp/ontology/NANDO_1200745 閉塞性細気管支炎 Bronchiolitis obliterans 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 カーニー複合 Carney complex 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:1200661 http://nanbyodata.jp/ontology/NANDO_1200661 ジュベール症候群関連疾患 Joubert syndrome and related disorders 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障害 Joubert syndrome and related disorders Orphanet:140874 https://www.orpha.net/en/disease/detail/140874 NANDO:1200704 http://nanbyodata.jp/ontology/NANDO_1200704 単心室症 Single ventricle 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 コフィン・シリス症候群 Coffin-Siris syndrome 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 コケイン症候群 Cockayne syndrome 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 完全大血管転位症 Complete transposition of the great arteries MONDO:0016301 http://purl.obolibrary.org/obo/MONDO_0016301 http://www.w3.org/2004/02/skos/core#exactMatch 修正大血管転位症 congenitally corrected transposition of the great arteries Orphanet:216694 https://www.orpha.net/en/disease/detail/216694 NANDO:1200742 http://nanbyodata.jp/ontology/NANDO_1200742 先天性腎性尿崩症 Congenital nephrogenic diabetes insipidus 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:1200672 http://nanbyodata.jp/ontology/NANDO_1200672 歌舞伎症候群 Kabuki syndrome 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:1200786 http://nanbyodata.jp/ontology/NANDO_1200786 ビオプテリン代謝異常症 Tetrahydrobiopterin deficiency MONDO:0016543 http://purl.obolibrary.org/obo/MONDO_0016543 http://www.w3.org/2004/02/skos/core#exactMatch テトラヒドロビオプテリン欠乏による高フェニルアラニン血症 hyperphenylalaninemia due to tetrahydrobiopterin deficiency Orphanet:238583 https://www.orpha.net/en/disease/detail/238583 NANDO:1200642 http://nanbyodata.jp/ontology/NANDO_1200642 肥厚性皮膚骨膜症 Pachydermoperiostosis MONDO:0016620 http://purl.obolibrary.org/obo/MONDO_0016620 http://www.w3.org/2004/02/skos/core#exactMatch 原発性肥大性骨関節症 primary hypertrophic osteoarthropathy Orphanet:248095 https://www.orpha.net/en/disease/detail/248095 NANDO:1200642 http://nanbyodata.jp/ontology/NANDO_1200642 肥厚性皮膚骨膜症 Pachydermoperiostosis MONDO:0016620 http://purl.obolibrary.org/obo/MONDO_0016620 http://www.w3.org/2004/02/skos/core#exactMatch 原発性肥大性骨関節症 primary hypertrophic osteoarthropathy Orphanet:2796 https://www.orpha.net/en/disease/detail/2796 NANDO:1200648 http://nanbyodata.jp/ontology/NANDO_1200648 血管型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, vascular type 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:1200787 http://nanbyodata.jp/ontology/NANDO_1200787 BH4反応性高Phe血症 Tetrahydrobiopterin-responsive hyperphenylalaninemia MONDO:0017389 http://purl.obolibrary.org/obo/MONDO_0017389 http://www.w3.org/2004/02/skos/core#exactMatch テトラヒドロビオプテリン反応性高フェニルアラニン血症/フェニルケトン尿症 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Orphanet:293284 https://www.orpha.net/en/disease/detail/293284 NANDO:1200770 http://nanbyodata.jp/ontology/NANDO_1200770 プラスマローゲン合成系酵素欠損症 Plasmalogen biosynthesis enzyme deficiency MONDO:0017986 http://purl.obolibrary.org/obo/MONDO_0017986 http://www.w3.org/2004/02/skos/core#exactMatch プラスマローゲン生合成障害 disorder of plasmalogens biosynthesis Orphanet:3276 https://www.orpha.net/en/disease/detail/3276 NANDO:1200627 http://nanbyodata.jp/ontology/NANDO_1200627 硫黄欠乏性毛髪発育異常症 Trichothiodystrophy 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:1200693 http://nanbyodata.jp/ontology/NANDO_1200693 総動脈幹遺残症 Truncus arteriosus communis 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 両大血管右室起始症 Double outlet right ventricle 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:1200757 http://nanbyodata.jp/ontology/NANDO_1200757 ウォルフラム症候群 Wolfram syndrome 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 一次性ネフローゼ症候群 Primary nephrotic syndrome 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 間質性膀胱炎（ハンナ型） Interstitial cystitis (Hunner type) MONDO:0018301 http://purl.obolibrary.org/obo/MONDO_0018301 http://www.w3.org/2004/02/skos/core#exactMatch 間質性膀胱炎 interstitial cystitis Orphanet:37202 https://www.orpha.net/en/disease/detail/37202 NANDO:1200640 http://nanbyodata.jp/ontology/NANDO_1200640 グリセリ症候群 Griscelli syndrome 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:1200749 http://nanbyodata.jp/ontology/NANDO_1200749 続発性肺胞蛋白症 Secondary Pulmonary Alveolar Proteinosis 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:1200656 http://nanbyodata.jp/ontology/NANDO_1200656 低ホスファターゼ症 Hypophosphatasia 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:1200634 http://nanbyodata.jp/ontology/NANDO_1200634 粘膜類天疱瘡 Mucous membrane pemphigoid 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:1200635 http://nanbyodata.jp/ontology/NANDO_1200635 後天性表皮水疱症 Epidermolysis bullosa acquisita 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:1200621 http://nanbyodata.jp/ontology/NANDO_1200621 KID症候群 Keratitis-ichthyosis-deafness syndrome 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:1200725 http://nanbyodata.jp/ontology/NANDO_1200725 一次性膜性増殖性糸球体腎炎 Primary membranoproliferative glomerulonephritis 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:1200637 http://nanbyodata.jp/ontology/NANDO_1200637 眼皮膚白皮症 Oculocutaneous albinism 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:1200688 http://nanbyodata.jp/ontology/NANDO_1200688 22q11.2欠失症候群 22q11.2 deletion syndrome 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 アルポート症候群 Alport's syndrome 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 ヌーナン症候群 Noonan syndrome 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:1200758 http://nanbyodata.jp/ontology/NANDO_1200758 ペルオキシソーム病 Peroxisomal disorder 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:1200633 http://nanbyodata.jp/ontology/NANDO_1200633 水疱性類天疱瘡 Bullous pemphigoid 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:1200744 http://nanbyodata.jp/ontology/NANDO_1200744 オスラー病 Osler disease 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 ペルオキシソームβ酸化系酵素欠損症 Peroxisomal beta-oxidation enzyme deficiency 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 ペルオキシソーム形成異常症 Peroxisome biogenesis disorders MONDO:0019234 http://purl.obolibrary.org/obo/MONDO_0019234 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム形成異常症 peroxisome biogenesis disorder Orphanet:79189 https://www.orpha.net/en/disease/detail/79189 NANDO:1200618 http://nanbyodata.jp/ontology/NANDO_1200618 魚鱗癬症候群 Ichthyosis syndrome 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:1200638 http://nanbyodata.jp/ontology/NANDO_1200638 ヘルマンスキー・パドラック症候群 Hermansky-Pudlak syndrome 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:1200679 http://nanbyodata.jp/ontology/NANDO_1200679 ソトス症候群 Sotos syndrome 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:1200970 http://nanbyodata.jp/ontology/NANDO_1200970 カルニチンパルミトイルトランスフェラーゼI欠損症 Carnitine palmitoyltransferase I deficiency 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:1200867 http://nanbyodata.jp/ontology/NANDO_1200867 中條・西村症候群 Nakajo-Nishimura syndrome 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:1200909 http://nanbyodata.jp/ontology/NANDO_1200909 総排泄腔外反症 Cloacal exstrophy 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:1200992 http://nanbyodata.jp/ontology/NANDO_1200992 メチルグルタコン酸尿症III型 3-methylglutaconic aciduria type III 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:1200869 http://nanbyodata.jp/ontology/NANDO_1200869 慢性再発性多発性骨髄炎 Chronic recurrent multifocal osteomyelitis 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:1200832 http://nanbyodata.jp/ontology/NANDO_1200832 筋型糖原病X型 Glycogen storage diseases type X 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 肝型糖原病IXb型 Hepatic glycogen storage disease type IXb 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 先天性骨髄性ポルフィリン症 Congenital erythropoietic porphyria 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:1200961 http://nanbyodata.jp/ontology/NANDO_1200961 スミス・レムリ・オピッツ症候群 Smith-lemli-opitz syndrome 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 カナバン病 Canavan disease 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 アッシャー症候群1型 Usher syndrome type I 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:1201040 http://nanbyodata.jp/ontology/NANDO_1201040 ホモシスチン尿症II型 Homocystinuria type 2 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 クレアチントランスポーター欠損症 Creatine transporter deficiency 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:1200830 http://nanbyodata.jp/ontology/NANDO_1200830 筋型糖原病IXd型 Glycogen storage diseases type IXd 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 ホスホグリセリン酸キナーゼ欠損症 Phosphoglycerate kinase deficiency 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 X連鎖優性プロトポルフィリン症 X-linked dominant protoporphyria 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:1200991 http://nanbyodata.jp/ontology/NANDO_1200991 メチルグルタコン酸尿症II型 3-methylglutaconicaciduria type II 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:1200938 http://nanbyodata.jp/ontology/NANDO_1200938 X連鎖性若年網膜分離症 X-linked juvenile retinoschisis 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 レーベル遺伝性視神経症 Leber hereditary optic neuropathy MONDO:0010788 http://purl.obolibrary.org/obo/MONDO_0010788 http://www.w3.org/2004/02/skos/core#exactMatch レーベル遺伝性視神経症 Leber hereditary optic neuropathy Orphanet:104 https://www.orpha.net/en/disease/detail/104 NANDO:1201044 http://nanbyodata.jp/ontology/NANDO_1201044 進行性家族性肝内胆汁うっ滞症2型 Progressive familial intrahepatic cholestasis type 2 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 進行性家族性肝内胆汁うっ滞症3型 Progressive familial intrahepatic cholestasis type 3 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 先天性気管狭窄症 Congenital tracheal stenosis 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:1200950 http://nanbyodata.jp/ontology/NANDO_1200950 皮質下嚢胞をもつ大頭型白質脳症 Megaloencephalic leukoencephalopathy with subcortical cysts 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:1200868 http://nanbyodata.jp/ontology/NANDO_1200868 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome 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:1200979 http://nanbyodata.jp/ontology/NANDO_1200979 新生児肝内胆汁うっ滞症 Neonatal intrahepatic cholestasis caused by citrin deficiency 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 非ケトーシス型高グリシン血症 Nonketotic hyperglycinemia 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 芳香族L－アミノ酸脱炭酸酵素欠損症 Aromatic L-amino acid decarboxylase deficiency 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:1200862 http://nanbyodata.jp/ontology/NANDO_1200862 後天性部分性脂肪萎縮症 Acquired partial lipodystrophy MONDO:0012104 http://purl.obolibrary.org/obo/MONDO_0012104 http://www.w3.org/2004/02/skos/core#exactMatch 後天性部分型リポジストロフィー acquired partial lipodystrophy Orphanet:79087 https://www.orpha.net/en/disease/detail/79087 NANDO:1200974 http://nanbyodata.jp/ontology/NANDO_1200974 三頭酵素欠損症 Trifunctional protein deficiency MONDO:0012172 http://purl.obolibrary.org/obo/MONDO_0012172 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア三機能タンパク欠乏症 mitochondrial trifunctional protein deficiency Orphanet:746 https://www.orpha.net/en/disease/detail/746 NANDO:1200959 http://nanbyodata.jp/ontology/NANDO_1200959 9q34欠失症候群 9q34 deletion syndrome MONDO:0012455 http://purl.obolibrary.org/obo/MONDO_0012455 http://www.w3.org/2004/02/skos/core#exactMatch Kleefstra症候群 Kleefstra syndrome Orphanet:261494 https://www.orpha.net/en/disease/detail/261494 NANDO:1200983 http://nanbyodata.jp/ontology/NANDO_1200983 先天性グリコシルホスファチジルイノシトール欠損症 Inherited glycosylphosphatidylinositol deficiency MONDO:0012465 http://purl.obolibrary.org/obo/MONDO_0012465 http://www.w3.org/2004/02/skos/core#exactMatch グリコシルホスファチジルイノシトール欠損による凝固能亢進症候群 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Orphanet:83639 https://www.orpha.net/en/disease/detail/83639 NANDO:1200834 http://nanbyodata.jp/ontology/NANDO_1200834 筋型糖原病XII型 Glycogen storage diseases type XII 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:1200982 http://nanbyodata.jp/ontology/NANDO_1200982 セピアプテリン還元酵素欠損症 Sepiapterin reductase deficiency 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 アルギニン・グリシンアミジノ基転移酵素欠損症 Arginine:glycine amidinotransferase deficiency 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 グアニジノ酢酸メチル基転位酵素欠損症 Guanidinoacetate methyltransferase deficiency MONDO:0012999 http://purl.obolibrary.org/obo/MONDO_0012999 http://www.w3.org/2004/02/skos/core#exactMatch グアニジノ酢酸メチルトランスフェラーゼ欠損症 guanidinoacetate methyltransferase deficiency Orphanet:382 https://www.orpha.net/en/disease/detail/382 NANDO:1200835 http://nanbyodata.jp/ontology/NANDO_1200835 筋型糖原病XIII型 Glycogen storage diseases type XIII 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 筋型糖原病XI型 Glycogen storage diseases type XI 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 筋型糖原病XV型 Glycogen storage diseases type XV 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:1200934 http://nanbyodata.jp/ontology/NANDO_1200934 オカルト黄斑ジストロフィー Occult macular dystrophy 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:1200836 http://nanbyodata.jp/ontology/NANDO_1200836 筋型糖原病XIV型 Glycogen storage diseases type XIV 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:1200995 http://nanbyodata.jp/ontology/NANDO_1200995 ADA2欠損症 Adenosine deaminase 2 deficiency MONDO:0014306 http://purl.obolibrary.org/obo/MONDO_0014306 http://www.w3.org/2004/02/skos/core#exactMatch アデノシンデアミナーゼ2欠損症 deficiency of adenosine deaminase 2 Orphanet:404553 https://www.orpha.net/en/disease/detail/404553 NANDO:1201046 http://nanbyodata.jp/ontology/NANDO_1201046 進行性家族性肝内胆汁うっ滞症4型 Progressive familial intrahepatic cholestasis type 4 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 NLRC4異常症 NLRC4 mutation MONDO:0014472 http://purl.obolibrary.org/obo/MONDO_0014472 http://www.w3.org/2004/02/skos/core#exactMatch 周期熱-乳児腸炎-自己炎症症候群 periodic fever-infantile enterocolitis-autoinflammatory syndrome Orphanet:436166 https://www.orpha.net/en/disease/detail/436166 NANDO:1200925 http://nanbyodata.jp/ontology/NANDO_1200925 自己免疫性膵炎 Autoimmune pancreatitis 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 ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia 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:1201004 http://nanbyodata.jp/ontology/NANDO_1201004 先天性声門下狭窄症 Congenital subglottic stenosis 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:1200820 http://nanbyodata.jp/ontology/NANDO_1200820 複合カルボキシラーゼ欠損症 Multiple carboxylase deficiency 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:1200971 http://nanbyodata.jp/ontology/NANDO_1200971 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 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:1201042 http://nanbyodata.jp/ontology/NANDO_1201042 進行性家族性肝内胆汁うっ滞症 Progressive familial intrahepatic cholestasis 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:1200937 http://nanbyodata.jp/ontology/NANDO_1200937 錐体杆体ジストロフィー Cone-rod dystrophy 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 コルネリア・デランゲ症候群 Cornelia de lange syndrome 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:1201010 http://nanbyodata.jp/ontology/NANDO_1201010 びまん皮膚硬化型全身性強皮症 Diffuse cutaneous systemic sclerosis 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 限局皮膚硬化型全身性強皮症 Limited cutaneous systemic sclerosis 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:1200944 http://nanbyodata.jp/ontology/NANDO_1200944 アッシャー症候群3型 Usher syndrome Type III 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:1200978 http://nanbyodata.jp/ontology/NANDO_1200978 シトリン欠損症 Citrin deficiency 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 成人発症II型シトルリン血症 Adult-onset type II citrullinemia 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:1200958 http://nanbyodata.jp/ontology/NANDO_1200958 1q部分重複症候群 Partial trisomy 1q MONDO:0016952 http://purl.obolibrary.org/obo/MONDO_0016952 http://www.w3.org/2004/02/skos/core#exactMatch 1番染色体長腕部分重複 partial duplication of the long arm of chromosome 1 Orphanet:262833 https://www.orpha.net/en/disease/detail/262833 NANDO:1200874 http://nanbyodata.jp/ontology/NANDO_1200874 タナトフォリック骨異形成症 Thanatophoric dysplasia 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:1200998 http://nanbyodata.jp/ontology/NANDO_1200998 大理石骨病 Osteopetrosis 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:1200923 http://nanbyodata.jp/ontology/NANDO_1200923 IgG4関連疾患 IgG4-related disease MONDO:0017287 http://purl.obolibrary.org/obo/MONDO_0017287 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連硬化性疾患 immunoglobulin G4-related sclerosing disease Orphanet:284264 https://www.orpha.net/en/disease/detail/284264 NANDO:1200923 http://nanbyodata.jp/ontology/NANDO_1200923 IgG4関連疾患 IgG4-related disease MONDO:0017287 http://purl.obolibrary.org/obo/MONDO_0017287 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連硬化性疾患 immunoglobulin G4-related sclerosing disease Orphanet:596448 https://www.orpha.net/en/disease/detail/596448 NANDO:1200985 http://nanbyodata.jp/ontology/NANDO_1200985 新生児型非ケトーシス型高グリシン血症 Neonatal nonketotic hyperglycinemia MONDO:0017353 http://purl.obolibrary.org/obo/MONDO_0017353 http://www.w3.org/2004/02/skos/core#exactMatch 新生児グリシン脳症 neonatal glycine encephalopathy Orphanet:289857 https://www.orpha.net/en/disease/detail/289857 NANDO:1200986 http://nanbyodata.jp/ontology/NANDO_1200986 乳児型非ケトーシス型高グリシン血症 Infantile nonketotic hyperglycinemia MONDO:0017354 http://purl.obolibrary.org/obo/MONDO_0017354 http://www.w3.org/2004/02/skos/core#exactMatch 乳児グリシン脳症 infantile glycine encephalopathy Orphanet:289860 https://www.orpha.net/en/disease/detail/289860 NANDO:1200989 http://nanbyodata.jp/ontology/NANDO_1200989 メチルグルタコン酸尿症 Methylglutaconic aciduria 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:1200969 http://nanbyodata.jp/ontology/NANDO_1200969 カルニチン回路異常症 Carnitine cycle disorders 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・カルニチン輸送障害 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 先天性肺静脈狭窄症 Congenital pulmonary vein stenosis MONDO:0017864 http://purl.obolibrary.org/obo/MONDO_0017864 http://www.w3.org/2004/02/skos/core#exactMatch 先天性肺静脈閉鎖症または狭窄症 congenital pulmonary veins atresia or stenosis Orphanet:3188 https://www.orpha.net/en/disease/detail/3188 NANDO:1200863 http://nanbyodata.jp/ontology/NANDO_1200863 家族性地中海熱 Familial Mediterranean fever 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:1200903 http://nanbyodata.jp/ontology/NANDO_1200903 ヒルシュスプルング病 Hirschsprung disease 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 IgG4関連硬化性胆管炎 IgG4-related sclerosing cholangitis 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 IgG4関連腎臓病 IgG4-related kidney disease 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:1200996 http://nanbyodata.jp/ontology/NANDO_1200996 エカルディ・グティエール症候群 Aicardi-Goutières Syndrome 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:1200859 http://nanbyodata.jp/ontology/NANDO_1200859 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy 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 レシチンコレステロールアシルトランスフェラーゼ欠損症 Lecithin cholesterol acyltransferase deficiency 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:1201036 http://nanbyodata.jp/ontology/NANDO_1201036 ネフロン癆 Nephronophthisis 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:1200873 http://nanbyodata.jp/ontology/NANDO_1200873 骨形成不全症 Osteogenesis imperfecta 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:1200929 http://nanbyodata.jp/ontology/NANDO_1200929 IgG4関連涙腺・眼窩および唾液腺病変 IgG4-related dacryoadenitis and sialadenitis 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:1200860 http://nanbyodata.jp/ontology/NANDO_1200860 後天性全身性脂肪萎縮症 Acquired generalized lipodystrophy 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:1200933 http://nanbyodata.jp/ontology/NANDO_1200933 Stargardt病 Stargardt disease MONDO:0019353 http://purl.obolibrary.org/obo/MONDO_0019353 http://www.w3.org/2004/02/skos/core#exactMatch Stargardt病 Stargardt disease Orphanet:827 https://www.orpha.net/en/disease/detail/827 NANDO:1200891 http://nanbyodata.jp/ontology/NANDO_1200891 ファンコニ貧血 Fanconi anemia MONDO:0019391 http://purl.obolibrary.org/obo/MONDO_0019391 http://www.w3.org/2004/02/skos/core#exactMatch ファンコーニ貧血 Fanconi anemia Orphanet:84 https://www.orpha.net/en/disease/detail/84 NANDO:1200885 http://nanbyodata.jp/ontology/NANDO_1200885 先天性赤血球形成異常性貧血 Congenital dyserythropoietic anemia 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:2200110 http://nanbyodata.jp/ontology/NANDO_2200110 フィンランド型先天性ネフローゼ症候群 Congenital nephrotic syndrome of the Finnish type 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 脈絡叢乳頭腫 Choroid plexus papilloma 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:2200154 http://nanbyodata.jp/ontology/NANDO_2200154 常染色体劣性多発性嚢胞腎 Autosomal recessive polycystic kidney disease MONDO:0009889 http://purl.obolibrary.org/obo/MONDO_0009889 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性多発性嚢胞腎 autosomal recessive polycystic kidney disease Orphanet:731 https://www.orpha.net/en/disease/detail/731 NANDO:2200145 http://nanbyodata.jp/ontology/NANDO_2200145 ギッテルマン症候群 Gitelman syndrome 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:2200202 http://nanbyodata.jp/ontology/NANDO_2200202 肺胞微石症 Pulmonary alveolar microlithiasis 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:1201058 http://nanbyodata.jp/ontology/NANDO_1201058 ラパデリノ症候群 RAPADILINO syndrome 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:1201073 http://nanbyodata.jp/ontology/NANDO_1201073 裂脳症 Schizencephaly 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:2200061 http://nanbyodata.jp/ontology/NANDO_2200061 滑膜肉腫 Synovial sarcoma 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:2200188 http://nanbyodata.jp/ontology/NANDO_2200188 ロウ症候群 Lowe syndrome 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:1201064 http://nanbyodata.jp/ontology/NANDO_1201064 カーンズ・セイヤー症候群 Kearns-Sayre syndrome 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:2200080 http://nanbyodata.jp/ontology/NANDO_2200080 胸膜肺芽腫 Pleuropulmonaryblastoma 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:1201089 http://nanbyodata.jp/ontology/NANDO_1201089 筋拘縮型エーラス・ダンロス症候群 Musculocontractural Ehlers-Danlos syndrome 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:1201056 http://nanbyodata.jp/ontology/NANDO_1201056 終板アセチルコリンエステラーゼ欠損症 End-plate acetylcholine esterase deficiency MONDO:0011281 http://purl.obolibrary.org/obo/MONDO_0011281 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋無力症候群5 congenital myasthenic syndrome 5 Orphanet:98915 https://www.orpha.net/en/disease/detail/98915 NANDO:1201076 http://nanbyodata.jp/ontology/NANDO_1201076 偽性副甲状腺機能低下症Ib型 Pseudohypoparathyroidism type 1B 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:2200063 http://nanbyodata.jp/ontology/NANDO_2200063 胞巣状軟部肉腫 Alveolar soft part sarcoma 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:1201103 http://nanbyodata.jp/ontology/NANDO_1201103 短指を伴う家族性指関節症 Familial digital arthropathy with brachydactyly 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:2200015 http://nanbyodata.jp/ontology/NANDO_2200015 若年性骨髄単球性白血病 Juvenile myelomonocytic leukemia 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 慢性骨髄性白血病 Chronic myeloid leukemia 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 myeloid leukemia Orphanet:521 https://www.orpha.net/en/disease/detail/521 NANDO:2200117 http://nanbyodata.jp/ontology/NANDO_2200117 Pierson症候群 Pierson syndrome 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:2200200 http://nanbyodata.jp/ontology/NANDO_2200200 先天性肺胞蛋白症 Congenital alveolar proteinosis MONDO:0012580 http://purl.obolibrary.org/obo/MONDO_0012580 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性肺胞蛋白症 hereditary pulmonary alveolar proteinosis Orphanet:264675 https://www.orpha.net/en/disease/detail/264675 NANDO:2200134 http://nanbyodata.jp/ontology/NANDO_2200134 リポタンパク糸球体症 Lipoprotein glomerulopathy 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:2200053 http://nanbyodata.jp/ontology/NANDO_2200053 ユーイング肉腫 Ewing's sarcoma 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:2200007 http://nanbyodata.jp/ontology/NANDO_2200007 急性前骨髄球性白血病 Acute promyelocytic leukemia 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:1201077 http://nanbyodata.jp/ontology/NANDO_1201077 偽性副甲状腺機能低下症Ic型 Pseudohypoparathyroidism type 1C 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:1201047 http://nanbyodata.jp/ontology/NANDO_1201047 進行性家族性肝内胆汁うっ滞症5型 Progressive familial intrahepatic cholestasis type 5 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:2100203 http://nanbyodata.jp/ontology/NANDO_2100203 複合免疫不全症 Combined immunodeficiency 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:2200146 http://nanbyodata.jp/ontology/NANDO_2200146 バーター症候群 Bartter syndrome MONDO:0015231 http://purl.obolibrary.org/obo/MONDO_0015231 http://www.w3.org/2004/02/skos/core#exactMatch バーター症候群 Bartter syndrome Orphanet:112 https://www.orpha.net/en/disease/detail/112 NANDO:2200209 http://nanbyodata.jp/ontology/NANDO_2200209 閉塞性細気管支炎 Bronchiolitis obliterans 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 髄質海綿腎 Medullary sponge kidney 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:2100221 http://nanbyodata.jp/ontology/NANDO_2100221 早老症 Progeroid syndromes MONDO:0015333 http://purl.obolibrary.org/obo/MONDO_0015333 http://www.w3.org/2004/02/skos/core#exactMatch 早老症様症候群 progeroid syndrome Orphanet:139033 https://www.orpha.net/en/disease/detail/139033 NANDO:1201051 http://nanbyodata.jp/ontology/NANDO_1201051 口-顔-指症候群 Oral-facial-digital syndrome 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:2100227 http://nanbyodata.jp/ontology/NANDO_2100227 頭蓋骨縫合早期癒合症 Craniosynostosis 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:2200037 http://nanbyodata.jp/ontology/NANDO_2200037 若年性黄色肉芽腫 Juvenile xanthogranuloma 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:2200032 http://nanbyodata.jp/ontology/NANDO_2200032 血球貪食性リンパ組織球症 Hemophagocytic lymphohistiocytosis MONDO:0015540 http://purl.obolibrary.org/obo/MONDO_0015540 http://www.w3.org/2004/02/skos/core#exactMatch 血球貪食症候群 hemophagocytic syndrome Orphanet:158032 https://www.orpha.net/en/disease/detail/158032 NANDO:2200020 http://nanbyodata.jp/ontology/NANDO_2200020 成熟B細胞リンパ腫 Mature B-cell lymphoma 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:2200068 http://nanbyodata.jp/ontology/NANDO_2200068 多胎芽腫 Polyembryoma 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 混合性胚細胞腫瘍 Mixed germ cell tumour MONDO:0015864 http://purl.obolibrary.org/obo/MONDO_0015864 http://www.w3.org/2004/02/skos/core#exactMatch 混合型胚細胞腫瘍 mixed germ cell tumor Orphanet:180234 https://www.orpha.net/en/disease/detail/180234 NANDO:2100132 http://nanbyodata.jp/ontology/NANDO_2100132 低アルドステロン症 Hypoaldosteronism 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:2100283 http://nanbyodata.jp/ontology/NANDO_2100283 先天性魚鱗癬 Congenital ichthyosis MONDO:0015947 http://purl.obolibrary.org/obo/MONDO_0015947 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性魚鱗癬 inherited ichthyosis Orphanet:183435 https://www.orpha.net/en/disease/detail/183435 NANDO:2200158 http://nanbyodata.jp/ontology/NANDO_2200158 多嚢胞性異形成腎 Multicystic dysplastic kidney 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:2200131 http://nanbyodata.jp/ontology/NANDO_2200131 非典型溶血性尿毒症症候群 Atypical hemolytic uremic syndrome 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:2200159 http://nanbyodata.jp/ontology/NANDO_2200159 寡巨大糸球体症 Oligomeganephronia 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:1201096 http://nanbyodata.jp/ontology/NANDO_1201096 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) 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:2200203 http://nanbyodata.jp/ontology/NANDO_2200203 線毛機能不全症候群 Primary ciliary dyskinesia 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:2200230 http://nanbyodata.jp/ontology/NANDO_2200230 不整脈源性右室心筋症 Arrhythmogenic right ventricular cardiomyopathy or dysplasia 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:2200094 http://nanbyodata.jp/ontology/NANDO_2200094 髄膜腫 Meningioma 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 退形成性星細胞腫 Anaplastic astrocytoma 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 びまん性星細胞腫 Diffuse astrocytoma 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 毛様細胞性星細胞腫 Pilocytic astrocytoma 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 乏突起神経膠腫 Oligodendroglioma 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 上衣腫 Ependymoma 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 松果体腫 Pineocytoma 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 神経節腫 Gangliocytoma MONDO:0016730 http://purl.obolibrary.org/obo/MONDO_0016730 http://www.w3.org/2004/02/skos/core#exactMatch 神経節細胞腫 gangliocytoma Orphanet:251937 https://www.orpha.net/en/disease/detail/251937 NANDO:2200096 http://nanbyodata.jp/ontology/NANDO_2200096 神経節膠腫 Ganglioglioma 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:2100148 http://nanbyodata.jp/ontology/NANDO_2100148 多発性内分泌腫瘍 Multiple endocrine neoplasia 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 自己免疫性多内分泌腺症候群 Autoimmune polyendocrinopathy 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:1201074 http://nanbyodata.jp/ontology/NANDO_1201074 孔脳症 Porencephaly 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:2200102 http://nanbyodata.jp/ontology/NANDO_2200102 悪性神経鞘腫 Malignant neurinoma 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:1201049 http://nanbyodata.jp/ontology/NANDO_1201049 セニオール・ローケン症候群 Senior-Loken syndrome 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:2200010 http://nanbyodata.jp/ontology/NANDO_2200010 急性赤白血病 Acute erythremia 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:2200221 http://nanbyodata.jp/ontology/NANDO_2200221 カテコラミン誘発多形性心室頻拍 Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 http://purl.obolibrary.org/obo/MONDO_0017990 http://www.w3.org/2004/02/skos/core#exactMatch カテコラミン誘発多形性心室頻拍 catecholaminergic polymorphic ventricular tachycardia Orphanet:3286 https://www.orpha.net/en/disease/detail/3286 NANDO:2200038 http://nanbyodata.jp/ontology/NANDO_2200038 エルドハイム・チェスター病 Erdheim-Chester disease 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 膠芽腫 Glioblastoma 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 末梢性未分化神経外胚葉性腫瘍 Peripheral primitive neuroectodermal tumors 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:2100241 http://nanbyodata.jp/ontology/NANDO_2100241 脳の鉄沈着を伴う神経変性疾患 Neurodegeneration with brain iron accumulation MONDO:0018307 http://purl.obolibrary.org/obo/MONDO_0018307 http://www.w3.org/2004/02/skos/core#exactMatch 脳内鉄沈着神経変性症 neurodegeneration with brain iron accumulation Orphanet:385 https://www.orpha.net/en/disease/detail/385 NANDO:2200031 http://nanbyodata.jp/ontology/NANDO_2200031 ランゲルハンス細胞組織球症 Langerhans cell histiocytosis 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:2200156 http://nanbyodata.jp/ontology/NANDO_2200156 腎無形成 Renal aplasia MONDO:0018470 http://purl.obolibrary.org/obo/MONDO_0018470 http://www.w3.org/2004/02/skos/core#exactMatch 腎無発生 renal agenesis Orphanet:411709 https://www.orpha.net/en/disease/detail/411709 NANDO:2200046 http://nanbyodata.jp/ontology/NANDO_2200046 肝芽腫 Hepatoblastoma 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:1201072 http://nanbyodata.jp/ontology/NANDO_1201072 敷石様皮質異形成 Cobblestone brain malformation 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:2200011 http://nanbyodata.jp/ontology/NANDO_2200011 急性巨核芽球性白血病 Acute megakaryoblastic leukemia 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 骨髄異形成症候群 Myelodysplastic syndrome 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:2200091 http://nanbyodata.jp/ontology/NANDO_2200091 頭蓋咽頭腫 Craniopharyngioma 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:2200184 http://nanbyodata.jp/ontology/NANDO_2200184 巨大尿管症 Megaureter 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:2200126 http://nanbyodata.jp/ontology/NANDO_2200126 慢性糸球体腎炎（アルポート 症候群によるものに限る。） Alport syndrome 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:2200043 http://nanbyodata.jp/ontology/NANDO_2200043 ウィルムス腫瘍／腎芽腫 Wilms tumour 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:2200140 http://nanbyodata.jp/ontology/NANDO_2200140 ネフロン癆 Nephronophthisis 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:2200082 http://nanbyodata.jp/ontology/NANDO_2200082 膵芽腫 Pancreatoblastoma 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:2100279 http://nanbyodata.jp/ontology/NANDO_2100279 染色体または遺伝子に変化を伴う症候群 Chromosome abnormality MONDO:0019040 http://purl.obolibrary.org/obo/MONDO_0019040 http://www.w3.org/2004/02/skos/core#exactMatch 染色体異常 chromosomal disorder Orphanet:68335 https://www.orpha.net/en/disease/detail/68335 NANDO:2100159 http://nanbyodata.jp/ontology/NANDO_2100159 先天性代謝異常 Inborn errors of metabolism 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 ペルオキシソーム病 Peroxisomal disorder 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 神経・筋疾患 Neuromuscular disease 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:1201080 http://nanbyodata.jp/ontology/NANDO_1201080 先天性プロテインC欠乏症 Protein C deficiency 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欠乏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:2100164 http://nanbyodata.jp/ontology/NANDO_2100164 糖質代謝異常症 Disorder of carbohydrate metabolism 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:2200059 http://nanbyodata.jp/ontology/NANDO_2200059 線維形成性小円形細胞腫瘍 Desmoplastic small round cell tumors 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:2200435 http://nanbyodata.jp/ontology/NANDO_2200435 中條・西村症候群 Nakajo-Nishimura syndrome 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 慢性再発性多発性骨髄炎 Chronic recurrent multifocal osteomyelitis 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:2200467 http://nanbyodata.jp/ontology/NANDO_2200467 フェニルケトン尿症 Phenylketonuria 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:2200390 http://nanbyodata.jp/ontology/NANDO_2200390 17β-ヒドロキシステロイド脱水素酵素欠損症 17 beta-hydroxysteroid dehydrogenase deficiency 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脱水素酵素3欠損による46,XX性分化疾患 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 5α-還元酵素欠損症 5 alpha-reductase deficiency 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性分化疾患 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Orphanet:753 https://www.orpha.net/en/disease/detail/753 NANDO:2200253 http://nanbyodata.jp/ontology/NANDO_2200253 心室中隔欠損を伴わない肺動脈閉鎖症 Pulmonary atresia with intact ventricular septum 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:2200347 http://nanbyodata.jp/ontology/NANDO_2200347 自己免疫性多内分泌腺症候群2型 Autoimmune polyendocrinopathy type 2 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:2200420 http://nanbyodata.jp/ontology/NANDO_2200420 シェーグレン症候群 Sjogren's syndrome 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:2200320 http://nanbyodata.jp/ontology/NANDO_2200320 インスリン様成長因子1不応症 IGF1 insensitivity 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:2200469 http://nanbyodata.jp/ontology/NANDO_2200469 高チロシン血症2型 Tyrosinemia type 2 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:2200468 http://nanbyodata.jp/ontology/NANDO_2200468 高チロシン血症1型 Tyrosinemia type 1 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:2200470 http://nanbyodata.jp/ontology/NANDO_2200470 高チロシン血症3型 Tyrosinemia type 3 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:2200457 http://nanbyodata.jp/ontology/NANDO_2200457 SLC29A3異常症 SLC29A3 deficiency 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 若年性特発性関節炎 Juvenile idiopathic arthritis 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 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome 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:2200251 http://nanbyodata.jp/ontology/NANDO_2200251 三尖弁閉鎖症 Tricuspid atresia 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:2200264 http://nanbyodata.jp/ontology/NANDO_2200264 動脈管開存症 Patent ductus arteriosus MONDO:0011827 http://purl.obolibrary.org/obo/MONDO_0011827 http://www.w3.org/2004/02/skos/core#exactMatch 動脈管開存 patent ductus arteriosus Orphanet:466729 https://www.orpha.net/en/disease/detail/466729 NANDO:2200424 http://nanbyodata.jp/ontology/NANDO_2200424 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis 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 Majeed症候群 Majeed syndrome MONDO:0012316 http://purl.obolibrary.org/obo/MONDO_0012316 http://www.w3.org/2004/02/skos/core#exactMatch マジード症候群 Majeed syndrome Orphanet:77297 https://www.orpha.net/en/disease/detail/77297 NANDO:2200449 http://nanbyodata.jp/ontology/NANDO_2200449 NLRP-12関連周期性症候群 NLRP12-associated periodic syndrome MONDO:0012724 http://purl.obolibrary.org/obo/MONDO_0012724 http://www.w3.org/2004/02/skos/core#exactMatch 家族性寒冷自己炎症症候群2 familial cold autoinflammatory syndrome 2 Orphanet:247868 https://www.orpha.net/en/disease/detail/247868 NANDO:2200348 http://nanbyodata.jp/ontology/NANDO_2200348 偽性偽性副甲状腺機能低下症 Pseudopseudohypoparathyroidism 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:2200439 http://nanbyodata.jp/ontology/NANDO_2200439 インターロイキンI受容体拮抗分子欠損症 Deficiency of the interleukin-1-receptor antagonist MONDO:0013021 http://purl.obolibrary.org/obo/MONDO_0013021 http://www.w3.org/2004/02/skos/core#exactMatch 骨膜炎および膿疱を伴う無菌性多発性骨髄炎 sterile multifocal osteomyelitis with periostitis and pustulosis Orphanet:210115 https://www.orpha.net/en/disease/detail/210115 NANDO:2200375 http://nanbyodata.jp/ontology/NANDO_2200375 P450酸化還元酵素欠損症 P450 oxidoreductase deficiency MONDO:0013310 http://purl.obolibrary.org/obo/MONDO_0013310 http://www.w3.org/2004/02/skos/core#exactMatch シトクロムP450酸化還元酵素欠損による先天性副腎過形成 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Orphanet:95699 https://www.orpha.net/en/disease/detail/95699 NANDO:2200452 http://nanbyodata.jp/ontology/NANDO_2200452 IL36RN欠損症 IL36RN deficiency 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 IL36RN欠損症 IL36RN deficiency 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 フォスフォリパーゼCγ2関連抗体欠損免疫異常症 PLCG2-associated antibody deficiency and immune dysregulation MONDO:0013766 http://purl.obolibrary.org/obo/MONDO_0013766 http://www.w3.org/2004/02/skos/core#exactMatch 家族性寒冷自己炎症症候群3 familial cold autoinflammatory syndrome 3 Orphanet:300359 https://www.orpha.net/en/disease/detail/300359 NANDO:2200442 http://nanbyodata.jp/ontology/NANDO_2200442 自己炎症合併フォスフォリパーゼCγ2関連抗体欠損免疫異常症 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation MONDO:0013944 http://purl.obolibrary.org/obo/MONDO_0013944 http://www.w3.org/2004/02/skos/core#exactMatch 自己炎症-PLCG2関連抗体欠損-免疫調節障害 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 ADA2欠損症 Adenosine deaminase 2 deficiency MONDO:0014306 http://purl.obolibrary.org/obo/MONDO_0014306 http://www.w3.org/2004/02/skos/core#exactMatch アデノシンデアミナーゼ2欠損症 deficiency of adenosine deaminase 2 Orphanet:404553 https://www.orpha.net/en/disease/detail/404553 NANDO:2200358 http://nanbyodata.jp/ontology/NANDO_2200358 グルココルチコイド抵抗症 Glucocorticoid resistance 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:2200459 http://nanbyodata.jp/ontology/NANDO_2200459 NLRC4異常症 NLRC4 mutation MONDO:0014472 http://purl.obolibrary.org/obo/MONDO_0014472 http://www.w3.org/2004/02/skos/core#exactMatch 周期熱-乳児腸炎-自己炎症症候群 periodic fever-infantile enterocolitis-autoinflammatory syndrome Orphanet:436166 https://www.orpha.net/en/disease/detail/436166 NANDO:2200360 http://nanbyodata.jp/ontology/NANDO_2200360 アジソン病 Addison's disease MONDO:0015129 http://purl.obolibrary.org/obo/MONDO_0015129 http://www.w3.org/2004/02/skos/core#exactMatch 慢性原発性副腎機能不全 chronic primary adrenal insufficiency Orphanet:101959 https://www.orpha.net/en/disease/detail/101959 NANDO:2200293 http://nanbyodata.jp/ontology/NANDO_2200293 バルサルバ洞動脈瘤 Aneurysm of sinus valsalva 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:2200414 http://nanbyodata.jp/ontology/NANDO_2200414 バルデー・ビードル症候群 Bardet-Biedl syndrome 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:2200269 http://nanbyodata.jp/ontology/NANDO_2200269 完全型房室中隔欠損症 Complete atrioventricular septal defect 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 不完全型房室中隔欠損症 Incomplete atrioventricular septal defect 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 三心房心 Cor triatriatum MONDO:0015450 http://purl.obolibrary.org/obo/MONDO_0015450 http://www.w3.org/2004/02/skos/core#exactMatch 三房心 triatrial heart Orphanet:1463 https://www.orpha.net/en/disease/detail/1463 NANDO:2200250 http://nanbyodata.jp/ontology/NANDO_2200250 単心室症 Single ventricle 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:2200324 http://nanbyodata.jp/ontology/NANDO_2200324 中枢性尿崩症 Central diabetes insipidus 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 ゴナドトロピン非依存性思春期早発症 Non-gonadotropin-dependent precocious puberty MONDO:0015791 http://purl.obolibrary.org/obo/MONDO_0015791 http://www.w3.org/2004/02/skos/core#exactMatch 末梢性思春期早発症 peripheral precocious puberty Orphanet:178040 https://www.orpha.net/en/disease/detail/178040 NANDO:2200321 http://nanbyodata.jp/ontology/NANDO_2200321 成長ホルモン不応性症候群 Growth hormone insensitivity 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:2200298 http://nanbyodata.jp/ontology/NANDO_2200298 肺動脈性肺高血圧症 Pulmonary arterial hypertension 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:422 https://www.orpha.net/en/disease/detail/422 NANDO:2200298 http://nanbyodata.jp/ontology/NANDO_2200298 肺動脈性肺高血圧症 Pulmonary arterial hypertension 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:2200427 http://nanbyodata.jp/ontology/NANDO_2200427 好酸球性多発血管炎性肉芽腫症 Eosinophilic granulomatosis with polyangiitis 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:2200355 http://nanbyodata.jp/ontology/NANDO_2200355 副腎皮質刺激ホルモン単独欠損症 Isolated ACTH deficiency 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:2200296 http://nanbyodata.jp/ontology/NANDO_2200296 冠動脈瘻 Coronary artery fistula 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:2200432 http://nanbyodata.jp/ontology/NANDO_2200432 クリオピリン関連周期熱症候群 Cryopyrin-associated periodic syndrome 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:2200387 http://nanbyodata.jp/ontology/NANDO_2200387 卵精巣性性分化疾患 Ovotesticular dsd MONDO:0016281 http://purl.obolibrary.org/obo/MONDO_0016281 http://www.w3.org/2004/02/skos/core#exactMatch 46,XX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:2200259 http://nanbyodata.jp/ontology/NANDO_2200259 先天性修正大血管転位症 Congenitally corrected transposition of the great arteries MONDO:0016301 http://purl.obolibrary.org/obo/MONDO_0016301 http://www.w3.org/2004/02/skos/core#exactMatch 修正大血管転位症 congenitally corrected transposition of the great arteries Orphanet:216694 https://www.orpha.net/en/disease/detail/216694 NANDO:2200326 http://nanbyodata.jp/ontology/NANDO_2200326 腎性尿崩症 Nephrogenic diabetes insipidus 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:2200463 http://nanbyodata.jp/ontology/NANDO_2200463 新生児糖尿病 Neonatal diabetes mellitus 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:2200332 http://nanbyodata.jp/ontology/NANDO_2200332 甲状腺刺激ホルモン分泌低下症 Thyroid-stimulating hormone deficiency MONDO:0016410 http://purl.obolibrary.org/obo/MONDO_0016410 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性先天性甲状腺機能低下症 central congenital hypothyroidism Orphanet:226298 https://www.orpha.net/en/disease/detail/226298 NANDO:2200446 http://nanbyodata.jp/ontology/NANDO_2200446 IL10欠損症 IL10 deficiency MONDO:0016542 http://purl.obolibrary.org/obo/MONDO_0016542 http://www.w3.org/2004/02/skos/core#exactMatch IL10関連早期発症型炎症性腸疾患 IL10-related early-onset inflammatory bowel disease Orphanet:238569 https://www.orpha.net/en/disease/detail/238569 NANDO:2200275 http://nanbyodata.jp/ontology/NANDO_2200275 右室二腔症 Double-chambered right ventricle MONDO:0016581 http://purl.obolibrary.org/obo/MONDO_0016581 http://www.w3.org/2004/02/skos/core#exactMatch 円錐動脈幹異常 conotruncal heart malformations Orphanet:2445 https://www.orpha.net/en/disease/detail/2445 NANDO:2200436 http://nanbyodata.jp/ontology/NANDO_2200436 高IgD症候群 Hyper IgD syndrome MONDO:0017708 http://purl.obolibrary.org/obo/MONDO_0017708 http://www.w3.org/2004/02/skos/core#exactMatch メバロン酸キナーゼ欠損症 mevalonate kinase deficiency Orphanet:309025 https://www.orpha.net/en/disease/detail/309025 NANDO:2200273 http://nanbyodata.jp/ontology/NANDO_2200273 肺静脈狭窄症 Pulmonary venous obstruction MONDO:0017864 http://purl.obolibrary.org/obo/MONDO_0017864 http://www.w3.org/2004/02/skos/core#exactMatch 先天性肺静脈閉鎖症または狭窄症 congenital pulmonary veins atresia or stenosis Orphanet:3188 https://www.orpha.net/en/disease/detail/3188 NANDO:2200278 http://nanbyodata.jp/ontology/NANDO_2200278 肺動脈弁上狭窄症 Supravalvular pulmonary stenosis MONDO:0017870 http://purl.obolibrary.org/obo/MONDO_0017870 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弁上狭窄症 supravalvular pulmonary stenosis Orphanet:3192 https://www.orpha.net/en/disease/detail/3192 NANDO:2200423 http://nanbyodata.jp/ontology/NANDO_2200423 高安動脈炎 Takayasu arteritis 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 高安動脈炎 Takayasu arteritis 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:2200261 http://nanbyodata.jp/ontology/NANDO_2200261 総動脈幹遺残症 Truncus arteriosus communis 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:2200431 http://nanbyodata.jp/ontology/NANDO_2200431 家族性地中海熱 Familial Mediterranean fever 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:2200256 http://nanbyodata.jp/ontology/NANDO_2200256 両大血管右室起始症 Double outlet right ventricle 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 両大血管左室起始症 Double-outlet left ventricle 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:2200370 http://nanbyodata.jp/ontology/NANDO_2200370 リポイド副腎過形成症 Congenital lipoid adrenal hyperplasia 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 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism 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 先天性甲状腺機能低下症 Congenital hypothyroidism 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 口渇中枢障害を伴う高ナトリウム血症 Adipsic hypernatremia MONDO:0018620 http://purl.obolibrary.org/obo/MONDO_0018620 http://www.w3.org/2004/02/skos/core#exactMatch 視床下部無飲性高ナトリウム血症候群 hypothalamic adipsic hypernatraemia syndrome Orphanet:443101 https://www.orpha.net/en/disease/detail/443101 NANDO:2200367 http://nanbyodata.jp/ontology/NANDO_2200367 偽性低アルドステロン症 Pseudohypoaldosteronism 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 先天性下垂体機能低下症 Congenital hypopituitarism 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 カルマン症候群 Kallmann syndrome 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:2200231 http://nanbyodata.jp/ontology/NANDO_2200231 心筋緻密化障害 Non-compaction of the ventricle 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:2200462 http://nanbyodata.jp/ontology/NANDO_2200462 若年発症成人型糖尿病 Maturity-onset diabetes of the young 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:2200412 http://nanbyodata.jp/ontology/NANDO_2200412 マッキューン・オルブライト症候群 McCune-Albright syndrome 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 ヌーナン症候群 Noonan syndrome 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 多発性内分泌腫瘍2型 Multiple endocrine neoplasia type 2 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 顕微鏡的多発血管炎 Microscopic polyangiitis 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 再発性多発軟骨炎 Relapsing polychondritis 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 アンドロゲン不応症 Androgen insensitivity syndrome 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:2200368 http://nanbyodata.jp/ontology/NANDO_2200368 偽性低アルドステロン症I型 Pseudohypoaldosteronism type I 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 偽性低アルドステロン症II型 Pseudohypoaldosteronism type II 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 ゴナドトロピン依存性思春期早発症 Gonadotropin-dependent precocious puberty 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:2200425 http://nanbyodata.jp/ontology/NANDO_2200425 結節性多発血管炎 Polyangiitis nodosa 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:2200509 http://nanbyodata.jp/ontology/NANDO_2200509 カルニチンパルミトイルトランスフェラーゼI欠損症 Carnitine palmitoyltransferase I deficiency 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 リー症候群 Leigh syndrome 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:2200557 http://nanbyodata.jp/ontology/NANDO_2200557 ガラクトシアリドーシス Galactosialidosis 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:2200590 http://nanbyodata.jp/ontology/NANDO_2200590 オロト酸尿症 Orotic aciduria MONDO:0009797 http://purl.obolibrary.org/obo/MONDO_0009797 http://www.w3.org/2004/02/skos/core#exactMatch オロチン酸尿症 orotic aciduria Orphanet:30 https://www.orpha.net/en/disease/detail/30 NANDO:2200671 http://nanbyodata.jp/ontology/NANDO_2200671 スコット症候群 Scott syndrome MONDO:0009885 http://purl.obolibrary.org/obo/MONDO_0009885 http://www.w3.org/2004/02/skos/core#exactMatch Scott症候群 Scott syndrome Orphanet:806 https://www.orpha.net/en/disease/detail/806 NANDO:2200643 http://nanbyodata.jp/ontology/NANDO_2200643 真性多血症 Polycythemia vera MONDO:0009891 http://purl.obolibrary.org/obo/MONDO_0009891 http://www.w3.org/2004/02/skos/core#exactMatch 後天性真性赤血球増加症 acquired polycythemia vera Orphanet:729 https://www.orpha.net/en/disease/detail/729 NANDO:2200519 http://nanbyodata.jp/ontology/NANDO_2200519 ピルビン酸カルボキシラーゼ欠損症 Pyruvate carboxylase deficiency 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:2200628 http://nanbyodata.jp/ontology/NANDO_2200628 ピルビン酸キナーゼ欠乏性貧血 Hemolytic anemia due to red cell pyruvate kinase deficiency 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 レフサム病 Refsum disease 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 コハク酸セミアルデヒド脱水素酵素欠損症 Succinic semialdehyde dehydrogenase deficiency 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 マルチプルスルファターゼ欠損症 Multiple sulfatase deficiency 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 亜硫酸酸化酵素欠損症 Sulfite oxidase deficiency 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:2200661 http://nanbyodata.jp/ontology/NANDO_2200661 橈骨欠損を伴う血小板減少症 Thrombocytopenia with absent radii 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:2200579 http://nanbyodata.jp/ontology/NANDO_2200579 ウィルソン病 Wilson disease 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 ファブリー病 Fabry disease 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 オクシピタル・ホーン症候群 Occipital horn syndrome 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:2200676 http://nanbyodata.jp/ontology/NANDO_2200676 血友病Ａ Hemophilia A 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:2200505 http://nanbyodata.jp/ontology/NANDO_2200505 グリセロール尿症 Glycerol kinase deficiency 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:2200580 http://nanbyodata.jp/ontology/NANDO_2200580 メンケス病 Menkes disease 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:2200548 http://nanbyodata.jp/ontology/NANDO_2200548 ムコ多糖症II型 Mucopolysaccharidosis type II 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 ムコ多糖症II型 Mucopolysaccharidosis type II 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:2200479 http://nanbyodata.jp/ontology/NANDO_2200479 オルニチントランスカルバミラーゼ欠損症 Ornithine transcarbamylase deficiency 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 カーンズ・セイヤー症候群 Kearns-Sayre syndrome 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 MELAS Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) 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 赤色ぼろ線維・ミオクローヌスてんかん症候群 Myoclonus epilepsy associated with ragged-red fibers 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:2200624 http://nanbyodata.jp/ontology/NANDO_2200624 鎌状赤血球症 Sickle cell disease MONDO:0011382 http://purl.obolibrary.org/obo/MONDO_0011382 http://www.w3.org/2004/02/skos/core#exactMatch 鎌状赤血球症 sickle cell disease Orphanet:232 https://www.orpha.net/en/disease/detail/232 NANDO:2200582 http://nanbyodata.jp/ontology/NANDO_2200582 無セルロプラスミン血症 Aceruloplasminemia 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:2200660 http://nanbyodata.jp/ontology/NANDO_2200660 橈骨尺骨融合を伴う血小板減少症 Congenital thrombocytopenia with radio-ulnar synostosis 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:2200476 http://nanbyodata.jp/ontology/NANDO_2200476 非ケトーシス型高グリシン血症 Nonketotic hyperglycinemia 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 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 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 プロピオン酸血症 Propionic acidemia 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 グルコーストランスポーター1欠損症 Glucose transporter 1 deficiency 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 フマラーゼ欠損症 Fumarase deficiency 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:2200596 http://nanbyodata.jp/ontology/NANDO_2200596 芳香族L－アミノ酸脱炭酸酵素欠損症 Aromatic L-amino acid decarboxylase deficiency 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:2200515 http://nanbyodata.jp/ontology/NANDO_2200515 三頭酵素欠損症 Trifunctional protein deficiency MONDO:0012172 http://purl.obolibrary.org/obo/MONDO_0012172 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア三機能タンパク欠乏症 mitochondrial trifunctional protein deficiency Orphanet:746 https://www.orpha.net/en/disease/detail/746 NANDO:2200669 http://nanbyodata.jp/ontology/NANDO_2200669 ADP受容体異常症 ADP receptor deficiencies 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:2200598 http://nanbyodata.jp/ontology/NANDO_2200598 GABAアミノ基転移酵素欠損症 Gamma-amino butyrate aminotransferase deficiency 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 α1-アンチトリプシン欠損症 Alpha-1-antitrypsin deficiency 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:2200673 http://nanbyodata.jp/ontology/NANDO_2200673 先天性プロトロンビン欠乏症 Hypoprothrombinemia 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 コラーゲン受容体異常症 Abnormalities in platelet collagen receptors 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:2200587 http://nanbyodata.jp/ontology/NANDO_2200587 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 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 鉄芽球性貧血 Sideroblastic anemia 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 先天性赤芽球癆 Congenital red cell aplasia 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:2200500 http://nanbyodata.jp/ontology/NANDO_2200500 複合カルボキシラーゼ欠損症 Multiple carboxylase deficiency 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:2200586 http://nanbyodata.jp/ontology/NANDO_2200586 ヒポキサンチングアニンホスホリボシルトランスフェラーゼ欠損症 Lesch-Nyhan syndrome 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 シスチン症 Cystinosis 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 ヘモグロビンC症 Hemoglobin C disease 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 神経セロイドリポフスチン症 Neuronal ceroid lipofuscinoses MONDO:0016295 http://purl.obolibrary.org/obo/MONDO_0016295 http://www.w3.org/2004/02/skos/core#exactMatch 神経セロイドリポフスチン症 neuronal ceroid lipofuscinosis Orphanet:216 https://www.orpha.net/en/disease/detail/216 NANDO:2200594 http://nanbyodata.jp/ontology/NANDO_2200594 ビオプテリン代謝異常症 Tetrahydrobiopterin deficiency MONDO:0016543 http://purl.obolibrary.org/obo/MONDO_0016543 http://www.w3.org/2004/02/skos/core#exactMatch テトラヒドロビオプテリン欠乏による高フェニルアラニン血症 hyperphenylalaninemia due to tetrahydrobiopterin deficiency Orphanet:238583 https://www.orpha.net/en/disease/detail/238583 NANDO:2200483 http://nanbyodata.jp/ontology/NANDO_2200483 シトリン欠損症 Citrin deficiency 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:2200630 http://nanbyodata.jp/ontology/NANDO_2200630 遺伝性楕円赤血球症 Hereditary elliptocytosis 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:2200536 http://nanbyodata.jp/ontology/NANDO_2200536 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 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 メチルグルタコン酸尿症 Methylglutaconic aciduria 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:2200559 http://nanbyodata.jp/ontology/NANDO_2200559 GM2ガングリオシドーシス GM2 gangliosidosis 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 シアリドーシス Sialidosis 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:2200605 http://nanbyodata.jp/ontology/NANDO_2200605 高比重リポタンパク欠乏症 HDL deficiency 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 Stomatocytic Xerocytosis Stomatocytic xerocytosis MONDO:0017910 http://purl.obolibrary.org/obo/MONDO_0017910 http://www.w3.org/2004/02/skos/core#exactMatch 脱水型遺伝性口唇赤血球症 dehydrated hereditary stomatocytosis Orphanet:3202 https://www.orpha.net/en/disease/detail/3202 NANDO:2200648 http://nanbyodata.jp/ontology/NANDO_2200648 ヘパリン起因性血小板減少症 Heparin-induced thrombocytopenia 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:2200558 http://nanbyodata.jp/ontology/NANDO_2200558 GM1ガングリオシドーシス GM1 Gangliosidosis 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 ゴーシェ病 Gaucher disease 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:2200523 http://nanbyodata.jp/ontology/NANDO_2200523 ミトコンドリアDNA枯渇症候群 Mitochondrial DNA depletion syndrome 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:2200576 http://nanbyodata.jp/ontology/NANDO_2200576 副腎白質ジストロフィー Adrenoleukodystrophy 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:2200560 http://nanbyodata.jp/ontology/NANDO_2200560 異染性白質ジストロフィー Metachromatic leukodystrophy 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:2200649 http://nanbyodata.jp/ontology/NANDO_2200649 血栓性血小板減少性紫斑病 Thrombotic thrombocytopenic purpura 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:2200618 http://nanbyodata.jp/ontology/NANDO_2200618 寒冷凝集素症 Cold agglutinin disease 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 ムコリピドーシスIII型 Mucolipidosis III 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 ムコリピドーシスIII型 Mucolipidosis III 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:2200549 http://nanbyodata.jp/ontology/NANDO_2200549 ムコ多糖症III型 Mucopolysaccharidosis type III 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 ムコ多糖症IV型 Mucopolysaccharidosis type IV 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:2200495 http://nanbyodata.jp/ontology/NANDO_2200495 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 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:2200610 http://nanbyodata.jp/ontology/NANDO_2200610 先天性ポルフィリン症 Congenital porphyria 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:2200518 http://nanbyodata.jp/ontology/NANDO_2200518 ピルビン酸脱水素酵素複合体欠損症 Pyruvate dehydrogenase complex deficiency MONDO:0019169 http://purl.obolibrary.org/obo/MONDO_0019169 http://www.w3.org/2004/02/skos/core#exactMatch ピルビン酸脱水素酵素欠損症 pyruvate dehydrogenase deficiency Orphanet:765 https://www.orpha.net/en/disease/detail/765 NANDO:2200506 http://nanbyodata.jp/ontology/NANDO_2200506 先天性胆汁酸代謝異常症 Inborn errors of bile acid metabolism 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:2200575 http://nanbyodata.jp/ontology/NANDO_2200575 ペルオキシソーム形成異常症 Peroxisome biogenesis disorders MONDO:0019234 http://purl.obolibrary.org/obo/MONDO_0019234 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム形成異常症 peroxisome biogenesis disorder Orphanet:79189 https://www.orpha.net/en/disease/detail/79189 NANDO:2200622 http://nanbyodata.jp/ontology/NANDO_2200622 遺伝性球状赤血球症 Hereditary spherocytosis 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 遊離シアル酸蓄積症 Free Sialic Acid Storage Disease 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:2200652 http://nanbyodata.jp/ontology/NANDO_2200652 ファンコニ貧血 Fanconi anemia MONDO:0019391 http://purl.obolibrary.org/obo/MONDO_0019391 http://www.w3.org/2004/02/skos/core#exactMatch ファンコーニ貧血 Fanconi anemia Orphanet:84 https://www.orpha.net/en/disease/detail/84 NANDO:2200615 http://nanbyodata.jp/ontology/NANDO_2200615 先天性赤血球形成異常性貧血 Congenital dyserythropoietic anemia 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:2200647 http://nanbyodata.jp/ontology/NANDO_2200647 新生児同種免疫性血小板減少症 Neonatal alloimmune thrombocytopenia 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:2200756 http://nanbyodata.jp/ontology/NANDO_2200756 シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome 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:2200687 http://nanbyodata.jp/ontology/NANDO_2200687 先天性α2-プラスミンインヒビター欠乏症 Alpha-2-plasmin inhibitor deficiency 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:2200695 http://nanbyodata.jp/ontology/NANDO_2200695 細網異形成症 Reticular dysgenesis 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:2200818 http://nanbyodata.jp/ontology/NANDO_2200818 裂脳症 Schizencephaly 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:2200700 http://nanbyodata.jp/ontology/NANDO_2200700 ZAP-70欠損症 ZAP-70 deficiency 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:2200775 http://nanbyodata.jp/ontology/NANDO_2200775 孤立性先天性無脾症 Isolated congenital asplenia 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:2200831 http://nanbyodata.jp/ontology/NANDO_2200831 ウェルナー症候群 Werner syndrome 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:2200761 http://nanbyodata.jp/ontology/NANDO_2200761 免疫不全を伴う無汗性外胚葉形成異常症 Anhidrotic ectodermal dysplasia with immunodeficiency 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 X連鎖好中球減少症 X linked severe congenital neutropenia 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:2200694 http://nanbyodata.jp/ontology/NANDO_2200694 X連鎖重症複合免疫不全症 X-linked severe combined immunodeficiency 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:2200716 http://nanbyodata.jp/ontology/NANDO_2200716 X連鎖無ガンマグロブリン血症 X-linked agammaglobulinemia 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:2200704 http://nanbyodata.jp/ontology/NANDO_2200704 ウィスコット・オルドリッチ症候群 Wiskott-Aldrich syndrome 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:2200751 http://nanbyodata.jp/ontology/NANDO_2200751 Barth症候群 Barth syndrome 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:2200677 http://nanbyodata.jp/ontology/NANDO_2200677 血友病Ｂ Hemophilia B 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:2200725 http://nanbyodata.jp/ontology/NANDO_2200725 X連鎖リンパ増殖症候群 X-linked lymphoproliferative syndrome 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:2200789 http://nanbyodata.jp/ontology/NANDO_2200789 Properdin 欠損症 Properdin deficiency 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:2200825 http://nanbyodata.jp/ontology/NANDO_2200825 レット症候群 Rett syndrome 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 巨脳症－毛細血管奇形症候群 Megalencephaly-capillary malformation syndrome 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-多小脳回症候群 megalencephaly-capillary malformation-polymicrogyria syndrome Orphanet:60040 https://www.orpha.net/en/disease/detail/60040 NANDO:2200697 http://nanbyodata.jp/ontology/NANDO_2200697 オーメン症候群 Omenn syndrome 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:2200749 http://nanbyodata.jp/ontology/NANDO_2200749 好中球減少を伴うClericuzio型多形皮膚萎縮症 Clericuzio-type poikiloderma with neutropenia syndrome 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:2200701 http://nanbyodata.jp/ontology/NANDO_2200701 MHCクラスI欠損症 MHC class I deficiency 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:2200736 http://nanbyodata.jp/ontology/NANDO_2200736 CD25欠損症 Immunodeficiency 41 with lymphoproliferation and autoimmunity 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 カスペース8欠損症 Caspase-8 deficiency 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 Griscelli症候群2型 Griscelli syndrome type 2 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 IRAK4欠損症 IRAK4 deficiency 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 SPENCDI Spondylo enchondro-dysplasiawith immune dysregulation MONDO:0011939 http://purl.obolibrary.org/obo/MONDO_0011939 http://www.w3.org/2004/02/skos/core#exactMatch 免疫調節障害を伴う 脊椎内軟骨異形成症 Spondyloenchondrodysplasia with immune dysregulation Orphanet:1855 https://www.orpha.net/en/disease/detail/1855 NANDO:2200733 http://nanbyodata.jp/ontology/NANDO_2200733 Hermansky-Pudlak症候群2型 Hermansky-Pudlak syndrome type 2 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 Hermansky-Pudlak症候群2型 Hermansky-Pudlak syndrome type 2 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:2200699 http://nanbyodata.jp/ontology/NANDO_2200699 CD8欠損症 CD8 deficiency 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:2200771 http://nanbyodata.jp/ontology/NANDO_2200771 MCM4遺伝子異常症 MCM4 mutation 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不全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 単純ヘルペス脳炎 Herpes simplex encephalitis 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 P14欠損症 P14 deficiency 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 Factor I 欠損症 Factor In deficiency 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:2200710 http://nanbyodata.jp/ontology/NANDO_2200710 RIDDLE症候群 RIDDLE syndrome 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:2200804 http://nanbyodata.jp/ontology/NANDO_2200804 CD59欠損症 Primary CD59 deficiency MONDO:0012858 http://purl.obolibrary.org/obo/MONDO_0012858 http://www.w3.org/2004/02/skos/core#exactMatch 原発性CD59欠損症 primary CD59 deficiency Orphanet:169464 https://www.orpha.net/en/disease/detail/169464 NANDO:2200684 http://nanbyodata.jp/ontology/NANDO_2200684 先天性プレカリクレイン欠乏症 Congenital prekallikrein deficiency MONDO:0012901 http://purl.obolibrary.org/obo/MONDO_0012901 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝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:2200734 http://nanbyodata.jp/ontology/NANDO_2200734 ITK欠損症 IL-2-inducible T-cell kinase deficiency 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:2200698 http://nanbyodata.jp/ontology/NANDO_2200698 プリンヌクレオシドホスホリラーゼ欠損症 Purine nucleoside phosphorylase deficiency 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 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-1 deficiency MONDO:0013227 http://purl.obolibrary.org/obo/MONDO_0013227 http://www.w3.org/2004/02/skos/core#exactMatch 先天性プラスミノーゲン活性化阻害因子1型欠損症 congenital plasminogen activator inhibitor type 1 deficiency Orphanet:465 https://www.orpha.net/en/disease/detail/465 NANDO:2200739 http://nanbyodata.jp/ontology/NANDO_2200739 ITCH欠損症 Syndromic multisystem autoimmune disease due to Itch deficiency MONDO:0013245 http://purl.obolibrary.org/obo/MONDO_0013245 http://www.w3.org/2004/02/skos/core#exactMatch ITCH欠損による症候性多臓器自己免疫疾患 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 FADD欠損症 Fas-associated death domain protein deficiency 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 C3 欠損症 C3 deficiency 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 MASP2 欠損症 MASP2 deficiency 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 Ficolin3 関連免疫不全症 Ficolin 3 Deficiency MONDO:0013467 http://purl.obolibrary.org/obo/MONDO_0013467 http://www.w3.org/2004/02/skos/core#exactMatch フィコリン3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 Factor D 欠損症 Factor D deficiency MONDO:0013487 http://purl.obolibrary.org/obo/MONDO_0013487 http://www.w3.org/2004/02/skos/core#exactMatch D因子欠損によるナイセリア反復感染 recurrent Neisseria infections due to factor D deficiency Orphanet:169467 https://www.orpha.net/en/disease/detail/169467 NANDO:2200719 http://nanbyodata.jp/ontology/NANDO_2200719 IgGサブクラス欠損症 Isolated IgG subclass deficiency MONDO:0013576 http://purl.obolibrary.org/obo/MONDO_0013576 http://www.w3.org/2004/02/skos/core#exactMatch 希少免疫グロブリンアイソタイプ欠乏に関連する反復感染 recurrent infections associated with rare immunoglobulin isotypes deficiency Orphanet:183675 https://www.orpha.net/en/disease/detail/183675 NANDO:2200801 http://nanbyodata.jp/ontology/NANDO_2200801 CR2欠損症 CD21 deficiency MONDO:0013862 http://purl.obolibrary.org/obo/MONDO_0013862 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症, 分類不能型, 7 immunodeficiency, common variable, 7 Orphanet:696894 https://www.orpha.net/en/disease/detail/696894 NANDO:2200766 http://nanbyodata.jp/ontology/NANDO_2200766 HOIL1欠損症 HOIL-1 deficiency 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 STAT2欠損症 STAT2 deficiency 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 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis 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:2200824 http://nanbyodata.jp/ontology/NANDO_2200824 ジュベール症候群関連疾患 Joubert syndrome related disorders 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障害 Joubert syndrome and related disorders Orphanet:140874 https://www.orpha.net/en/disease/detail/140874 NANDO:2200806 http://nanbyodata.jp/ontology/NANDO_2200806 特発性好酸球増加症 Hypereosinophilic syndrome MONDO:0015691 http://purl.obolibrary.org/obo/MONDO_0015691 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球増加症候群 hypereosinophilic syndrome Orphanet:168956 https://www.orpha.net/en/disease/detail/168956 NANDO:2200722 http://nanbyodata.jp/ontology/NANDO_2200722 乳児一過性低ガンマグロブリン血症 Transient hypogammaglobulinemia of infancy with normal numbers of B cells 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 先天性角化異常症 Dyskeratosis congenita 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:2200693 http://nanbyodata.jp/ontology/NANDO_2200693 再生不良性貧血 Aplastic anemia 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:2200832 http://nanbyodata.jp/ontology/NANDO_2200832 コケイン症候群 Cockayne syndrome 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:2200819 http://nanbyodata.jp/ontology/NANDO_2200819 全前脳胞症 Holoprosencephaly 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:2200822 http://nanbyodata.jp/ontology/NANDO_2200822 先天性水頭症 Congenital hydrocephalus 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:2200813 http://nanbyodata.jp/ontology/NANDO_2200813 髄膜脳瘤 Meningoencephalocele 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:2200792 http://nanbyodata.jp/ontology/NANDO_2200792 3MC 症候群 Malpuech-Michels-Mingarelli-Carnevale syndrome 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 白血球接着不全症 Leukocyte adhesion deficiency 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:2200726 http://nanbyodata.jp/ontology/NANDO_2200726 自己免疫性リンパ増殖症候群 Autoimmune lymphoproliferative syndrome 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 高IgE症候群 Hyper-IgE syndrome 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:2200686 http://nanbyodata.jp/ontology/NANDO_2200686 先天性第VおよびVIII因子合併欠乏症 Combined deficiency of coagulation factors V and VIII 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:2200757 http://nanbyodata.jp/ontology/NANDO_2200757 慢性肉芽腫症 Chronic granulomatous disease 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:2200807 http://nanbyodata.jp/ontology/NANDO_2200807 好酸球性消化管疾患 Eosinophilic gastrointestinal disorders 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:2200745 http://nanbyodata.jp/ontology/NANDO_2200745 重症先天性好中球減少症 Severe congenital neutropenia 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:2200817 http://nanbyodata.jp/ontology/NANDO_2200817 滑脳症 Lissencephaly 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:2200689 http://nanbyodata.jp/ontology/NANDO_2200689 先天性プロテインC欠乏症 Protein C deficiency 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欠乏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:2200759 http://nanbyodata.jp/ontology/NANDO_2200759 メンデル遺伝型マイコバクテリア易感染症 Mendelian susceptibility to mycobacterial disease 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:2200880 http://nanbyodata.jp/ontology/NANDO_2200880 ウンフェルリヒト・ルントボルク病 Unverricht-Lundborg disease 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 先天性筋線維不均等症 Congenital fiber-type disproportion myopathy 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 ミニコア病 Minicore myopathy 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 シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome 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 先天性無痛無汗症 Congenital insensitivity to pain with anhidrosis MONDO:0009746 http://purl.obolibrary.org/obo/MONDO_0009746 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性感覚・自律性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:2200951 http://nanbyodata.jp/ontology/NANDO_2200951 総排泄腔外反症 Cloacal exstrophy 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 亜急性硬化性全脳炎 Subacute sclerosing panencephalitis 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:2200979 http://nanbyodata.jp/ontology/NANDO_2200979 スミス・レムリ・オピッツ症候群 Smith-Lemli-Opitz syndrome 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:2200834 http://nanbyodata.jp/ontology/NANDO_2200834 カナバン病 Canavan disease 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:2200957 http://nanbyodata.jp/ontology/NANDO_2200957 ウィーバー症候群 Weaver syndrome 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:2200984 http://nanbyodata.jp/ontology/NANDO_2200984 MECP2重複症候群 MECP2 duplication syndrome 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:2200865 http://nanbyodata.jp/ontology/NANDO_2200865 ベッカー型筋ジストロフィー Becker muscular dystrophy 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 脆弱Ｘ症候群 Fragile X syndrome 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 ATR-X症候群 ATR-X syndrome MONDO:0010519 http://purl.obolibrary.org/obo/MONDO_0010519 http://www.w3.org/2004/02/skos/core#exactMatch アルファサラセミア-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:2200952 http://nanbyodata.jp/ontology/NANDO_2200952 コフィン・ローリー症候群 Coffin-Lowry syndrome 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 IPEX症候群 IPEX syndrome MONDO:0010580 http://purl.obolibrary.org/obo/MONDO_0010580 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖免疫調節障害・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 色素失調症 Incontinentia pigmenti 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:2200856 http://nanbyodata.jp/ontology/NANDO_2200856 デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy 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:2200978 http://nanbyodata.jp/ontology/NANDO_2200978 シンプソン・ゴラビ・ベーメル症候群 Simpson-Golabi-Behmel syndrome 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 ヤング・シンプソン症候群 Young-Simpson syndrome MONDO:0011365 http://purl.obolibrary.org/obo/MONDO_0011365 http://www.w3.org/2004/02/skos/core#exactMatch 瞼裂狭小-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:2200837 http://nanbyodata.jp/ontology/NANDO_2200837 皮質下嚢胞をもつ大頭型白質脳症 Megaloencephalic leukoencephalopathy with subcortical cysts 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:2200909 http://nanbyodata.jp/ontology/NANDO_2200909 先天性グルコース・ガラクトース吸収不良症 Glucose-galactose malabsorption 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:2200861 http://nanbyodata.jp/ontology/NANDO_2200861 メロシン欠損型先天性筋ジストロフィー Merosin-deficient congenital muscular dystrophy MONDO:0011925 http://purl.obolibrary.org/obo/MONDO_0011925 http://www.w3.org/2004/02/skos/core#exactMatch メロシン欠損型先天性筋ジストロフィー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 LMNA遺伝子変異型筋ジストロフィー LMNA-related congenital muscular dystrophy 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:2200929 http://nanbyodata.jp/ontology/NANDO_2200929 原発性硬化性胆管炎 Primary sclerosing cholangitis 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 リパーゼ欠損症 Lipase deficiency MONDO:0013700 http://purl.obolibrary.org/obo/MONDO_0013700 http://www.w3.org/2004/02/skos/core#exactMatch 膵トリアシルグリセロールリパーゼ欠損症 pancreatic triacylglycerol lipase deficiency Orphanet:309031 https://www.orpha.net/en/disease/detail/309031 NANDO:2200985 http://nanbyodata.jp/ontology/NANDO_2200985 武内・小崎症候群 Takenouchi-Kosaki syndrome 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:2200911 http://nanbyodata.jp/ontology/NANDO_2200911 アミラーゼ欠損症 Amylase deficiency MONDO:0015169 http://purl.obolibrary.org/obo/MONDO_0015169 http://www.w3.org/2004/02/skos/core#exactMatch グルコアミラーゼ欠損による慢性下痢症 chronic diarrhea due to glucoamylase deficiency Orphanet:103907 https://www.orpha.net/en/disease/detail/103907 NANDO:2200943 http://nanbyodata.jp/ontology/NANDO_2200943 自己免疫性膵炎 Autoimmune pancreatitis 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 短腸症 Short bowel syndrome 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 CFC症候群 CFC Syndrome 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:2200843 http://nanbyodata.jp/ontology/NANDO_2200843 非症候性頭蓋骨縫合早期癒合症 Non-syndromic craniosynostosis 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:2200977 http://nanbyodata.jp/ontology/NANDO_2200977 コフィン・シリス症候群 Coffin-Siris syndrome 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:2200888 http://nanbyodata.jp/ontology/NANDO_2200888 乳児両側線条体壊死 Infantile bilateral striatal necrosis MONDO:0015518 http://purl.obolibrary.org/obo/MONDO_0015518 http://www.w3.org/2004/02/skos/core#exactMatch 乳児両側性線条体壊死 infantile bilateral striatal necrosis Orphanet:1576 https://www.orpha.net/en/disease/detail/1576 NANDO:2200903 http://nanbyodata.jp/ontology/NANDO_2200903 難治頻回部分発作重積型急性脳炎 Acute encephalitis with refractory, repetitive partial seizures MONDO:0015584 http://purl.obolibrary.org/obo/MONDO_0015584 http://www.w3.org/2004/02/skos/core#exactMatch 熱性感染症関連てんかん症候群 febrile infection-related epilepsy syndrome Orphanet:163703 https://www.orpha.net/en/disease/detail/163703 NANDO:2200933 http://nanbyodata.jp/ontology/NANDO_2200933 進行性家族性肝内胆汁うっ滞症 Progressive familial intrahepatic cholestasis 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 ラスムッセン脳炎 Rasmussen's encephalitis MONDO:0016019 http://purl.obolibrary.org/obo/MONDO_0016019 http://www.w3.org/2004/02/skos/core#exactMatch ラスムッセン亜急性脳炎 Rasmussen subacute encephalitis Orphanet:1929 https://www.orpha.net/en/disease/detail/1929 NANDO:2200958 http://nanbyodata.jp/ontology/NANDO_2200958 コルネリア・デランゲ症候群 Cornelia de Lange syndrome 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 カウデン症候群 Cowden syndrome 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:2200864 http://nanbyodata.jp/ontology/NANDO_2200864 筋強直性ジストロフィー Myotonic dystrophy 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 小児交互性片麻痺 Alternating hemiplegia of childhood 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:2200928 http://nanbyodata.jp/ontology/NANDO_2200928 自己免疫性肝炎 Autoimmune hepatitis 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 歌舞伎症候群 Kabuki syndrome 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:2200879 http://nanbyodata.jp/ontology/NANDO_2200879 レノックス・ガストー症候群 Lennox-Gastaut syndrome 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 瀬川病 Segawa syndrome 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 もやもや病 Moyamoya disease 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 エメリー・ドレイフス型筋ジストロフィー Emery-Dreifuss muscular dystrophy 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 肢帯型筋ジストロフィー Limb-girdle muscular dystrophy 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:2200987 http://nanbyodata.jp/ontology/NANDO_2200987 ケラチン症性魚鱗癬 Keratinopathic ichthyosis 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:2200890 http://nanbyodata.jp/ontology/NANDO_2200890 先天性風疹症候群 Congenital rubella syndrome 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:2200916 http://nanbyodata.jp/ontology/NANDO_2200916 若年性ポリポーシス Juvenile polyposis 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症候群 juvenile polyposis syndrome Orphanet:2929 https://www.orpha.net/en/disease/detail/2929 NANDO:2200889 http://nanbyodata.jp/ontology/NANDO_2200889 先天性ヘルペスウイルス感染症 Congenital herpes simplex virus infection MONDO:0017381 http://purl.obolibrary.org/obo/MONDO_0017381 http://www.w3.org/2004/02/skos/core#exactMatch 先天性単純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 先天性サイトメガロウイルス感染症 Congenital cytomegalovirus infection 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:2200946 http://nanbyodata.jp/ontology/NANDO_2200946 慢性特発性偽性腸閉塞症 Chronic idiopathic intestinal pseudo-obstruction 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 13トリソミー症候群 Trisomy 13 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 18トリソミー症候群 Trisomy 18 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:2200878 http://nanbyodata.jp/ontology/NANDO_2200878 点頭てんかん West syndrome MONDO:0018097 http://purl.obolibrary.org/obo/MONDO_0018097 http://www.w3.org/2004/02/skos/core#exactMatch 点頭てんかん infantile spasms Orphanet:697160 https://www.orpha.net/en/disease/detail/697160 NANDO:2200914 http://nanbyodata.jp/ontology/NANDO_2200914 腸リンパ管拡張症 Intestinal lymphangiectasia 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 痙攣重積型急性脳症 Acute encephalopathy with biphasic seizures and late reduced diffusion 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 ヒルシュスプルング病 Hirschsprung disease 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 非特異性多発性小腸潰瘍症 Chronic nonspecific multiple ulcers of the small intestine 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 先天性多発肝内胆管拡張症 Caroli disease 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 先天性肝線維症 Congenital hepatic fibrosis 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:2200893 http://nanbyodata.jp/ontology/NANDO_2200893 エカルディ・グティエール症候群 Aicardi-Goutières Syndrome 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:2200986 http://nanbyodata.jp/ontology/NANDO_2200986 眼皮膚白皮症 Oculocutaneous albinism 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:2200871 http://nanbyodata.jp/ontology/NANDO_2200871 マルチコア病 Multicore disease MONDO:0018948 http://purl.obolibrary.org/obo/MONDO_0018948 http://www.w3.org/2004/02/skos/core#exactMatch マルチミニコアミオパチー multiminicore myopathy Orphanet:598 https://www.orpha.net/en/disease/detail/598 NANDO:2200969 http://nanbyodata.jp/ontology/NANDO_2200969 ロイス・ディーツ症候群 Loeys-Dietz syndrome 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:2200869 http://nanbyodata.jp/ontology/NANDO_2200869 ネマリンミオパチー Nemaline myopathy 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 Carpenter症候群 Carpenter syndrome 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 先天性大脳白質形成不全症 Congenital hypomyelinating leukodystrophy 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:2200955 http://nanbyodata.jp/ontology/NANDO_2200955 ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome 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 ソトス症候群 Sotos syndrome 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:2200993 http://nanbyodata.jp/ontology/NANDO_2200993 ネザートン症候群 Netherton syndrome 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:2201192 http://nanbyodata.jp/ontology/NANDO_2201192 シアリドーシスII型 Sialidosis type 2 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 ニーマン・ピック病A型 Niemann-Pick disease type A 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:2201165 http://nanbyodata.jp/ontology/NANDO_2201165 糖原病IXb型 Glycogen storage disease type IXb 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 成人型糖原病IV型 Glycogen storage disease type IV, adult form 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:2201268 http://nanbyodata.jp/ontology/NANDO_2201268 先天性骨髄性ポルフィリン症 Congenital erythropoietic porphyria 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:2201023 http://nanbyodata.jp/ontology/NANDO_2201023 濃化異骨症 Pycnodysostosis 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:2201200 http://nanbyodata.jp/ontology/NANDO_2201200 サンドホフ病 Sandhoff disease 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 乳児型遊離シアル酸蓄積症 Infantile free sialic acid storage disease 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:2200994 http://nanbyodata.jp/ontology/NANDO_2200994 シェーグレン・ラルソン症候群 Sjögren-Larsson syndrome 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:2201201 http://nanbyodata.jp/ontology/NANDO_2201201 AB型GM2ガングリオシドーシス GM2 gangliosidosis AB variant 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 テイ・サックス病 Tay-Sachs disease 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:2200997 http://nanbyodata.jp/ontology/NANDO_2200997 ドルフマン・シャナリン症候群 Dorfman-Chanarin syndrome 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:2201110 http://nanbyodata.jp/ontology/NANDO_2201110 コバラミン代謝異常 cblF Methylmalonic acidemia and homocystinuria cblF type 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 コバラミン代謝異常 cblC Methylmalonic aciduria and homocystinuria, cblC type 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 コバラミン代謝異常 cblD Methylmalonic acidemia CblD type 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:2201246 http://nanbyodata.jp/ontology/NANDO_2201246 小児大脳型副腎白質ジストロフィー Childhood cerebral adrenoleukodystrophy 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:2201292 http://nanbyodata.jp/ontology/NANDO_2201292 アラン・ハーンドン・ダドリー症候群 Allan-Herndon-Dudley syndrome 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:2201167 http://nanbyodata.jp/ontology/NANDO_2201167 糖原病IXd型 Glycogen storage disease type IXd 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:2201269 http://nanbyodata.jp/ontology/NANDO_2201269 X連鎖優性プロトポルフィリン症 X-linked dominant protoporphyria 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:2200998 http://nanbyodata.jp/ontology/NANDO_2200998 CHILD症候群 CHILD syndrome 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:2201288 http://nanbyodata.jp/ontology/NANDO_2201288 ペリツェウス・メルツバッハ病 Pelizaeus-Merzbacher disease 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 Pelizaeus-Merzbacher spectrum disorder Orphanet:702 https://www.orpha.net/en/disease/detail/702 NANDO:2201262 http://nanbyodata.jp/ontology/NANDO_2201262 デルマタン4-O-硫酸基転移酵素-1欠損型エーラス・ダンロス症候群 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome 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:2201291 http://nanbyodata.jp/ontology/NANDO_2201291 18q欠失症候群 18q-syndrome 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 18q欠失症候群 18q-syndrome 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:2201273 http://nanbyodata.jp/ontology/NANDO_2201273 α - サラセミア α-thalassemia 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:2201170 http://nanbyodata.jp/ontology/NANDO_2201170 Hurler-Scheie病 Hurler-Scheie disease 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 Scheie病 Scheie disease 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:2201066 http://nanbyodata.jp/ontology/NANDO_2201066 慢性乳児神経皮膚関節症候群 Chronic infantile neurological cutaneous articular syndrome 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:2201207 http://nanbyodata.jp/ontology/NANDO_2201207 ニーマン・ピック病B型 Niemann-Pick disease type B 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:2201132 http://nanbyodata.jp/ontology/NANDO_2201132 新生児期発症型カルニチンパルミトイルトランスフェラーゼII欠損症 Neonatal-onset carnitine palmitoyltransferase II deficiency 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:2201276 http://nanbyodata.jp/ontology/NANDO_2201276 特発性再生不良性貧血 Idiopathic aplastic anemia 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:2201152 http://nanbyodata.jp/ontology/NANDO_2201152 糖原病0b型 Glycogen storage disease type 0b 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:2201290 http://nanbyodata.jp/ontology/NANDO_2201290 基底核および小脳萎縮を伴う髄鞘形成不全症 Hypomyelination with atrophy of the basal ganglia and cerebellum 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:2201267 http://nanbyodata.jp/ontology/NANDO_2201267 晩発性皮膚ポルフィリン症 Porphyria cutanea tarda 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:2201054 http://nanbyodata.jp/ontology/NANDO_2201054 家族性甲状腺髄様癌 Medullary thyroid carcinoma MONDO:0015277 http://purl.obolibrary.org/obo/MONDO_0015277 http://www.w3.org/2004/02/skos/core#exactMatch 甲状腺髄様癌 medullary thyroid gland carcinoma Orphanet:1332 https://www.orpha.net/en/disease/detail/1332 NANDO:2201248 http://nanbyodata.jp/ontology/NANDO_2201248 副腎脊髄ニューロパチー Adrenomyeloneuropathy 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:2201033 http://nanbyodata.jp/ontology/NANDO_2201033 リンパ管腫症 Lymphangiomatosis 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:2201277 http://nanbyodata.jp/ontology/NANDO_2201277 二次性再生不良性貧血 Secondary aplastic anemia MONDO:0015610 http://purl.obolibrary.org/obo/MONDO_0015610 http://www.w3.org/2004/02/skos/core#exactMatch 後天性再生不良性貧血 acquired aplastic anemia Orphanet:164823 https://www.orpha.net/en/disease/detail/164823 NANDO:2201008 http://nanbyodata.jp/ontology/NANDO_2201008 胸郭不全症候群 Thoracic insufficiency syndrome MONDO:0015929 http://purl.obolibrary.org/obo/MONDO_0015929 http://www.w3.org/2004/02/skos/core#exactMatch 胸郭奇形 thoracic malformation Orphanet:182108 https://www.orpha.net/en/disease/detail/182108 NANDO:2201216 http://nanbyodata.jp/ontology/NANDO_2201216 乳児型クラッベ病 Infantile Krabbe disease 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 成人型クラッベ病 Adult Krabbe disease 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 成人型ニーマン・ピック病C型 Adult-onset Niemann-Pick disease type C 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:2201173 http://nanbyodata.jp/ontology/NANDO_2201173 重症型ムコ多糖症II型 Mucopolysaccharidosis type II, severe form 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:2201171 http://nanbyodata.jp/ontology/NANDO_2201171 軽症型ムコ多糖症II型 Mucopolysaccharidosis type II, attenuated form 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:2201005 http://nanbyodata.jp/ontology/NANDO_2201005 無汗性外胚葉形成不全 Anhidrotic ectodermal dysplasia MONDO:0016535 http://purl.obolibrary.org/obo/MONDO_0016535 http://www.w3.org/2004/02/skos/core#exactMatch 無汗性外胚葉異形成症 hypohidrotic ectodermal dysplasia Orphanet:238468 https://www.orpha.net/en/disease/detail/238468 NANDO:2201094 http://nanbyodata.jp/ontology/NANDO_2201094 新生児期発症型アルギニノコハク酸合成酵素欠損症 Neonatal-onset argininosuccinate synthetase deficiency 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 遅発型アルギニノコハク酸合成酵素欠損症 Late-onset argininosuccinate synthetase deficiency 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:2201004 http://nanbyodata.jp/ontology/NANDO_2201004 肥厚性皮膚骨膜症 Pachydermoperiostosis MONDO:0016620 http://purl.obolibrary.org/obo/MONDO_0016620 http://www.w3.org/2004/02/skos/core#exactMatch 原発性肥大性骨関節症 primary hypertrophic osteoarthropathy Orphanet:248095 https://www.orpha.net/en/disease/detail/248095 NANDO:2201004 http://nanbyodata.jp/ontology/NANDO_2201004 肥厚性皮膚骨膜症 Pachydermoperiostosis MONDO:0016620 http://purl.obolibrary.org/obo/MONDO_0016620 http://www.w3.org/2004/02/skos/core#exactMatch 原発性肥大性骨関節症 primary hypertrophic osteoarthropathy Orphanet:2796 https://www.orpha.net/en/disease/detail/2796 NANDO:2201078 http://nanbyodata.jp/ontology/NANDO_2201078 古典型メープルシロップ尿症 Classic form maple syrup urine disease 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 中間型メープルシロップ尿症 Intermediate maple syrup urine disease 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 間欠型メープルシロップ尿症 Intermittent maple syrup urine disease 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 チアミン反応型メープルシロップ尿症 Thiamine-responsive maple syrup urine disease 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:2201047 http://nanbyodata.jp/ontology/NANDO_2201047 家族性肺動脈性肺高血圧症 Familial pulmonary arterial hypertension 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 大理石骨病 Osteopetrosis 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:2201289 http://nanbyodata.jp/ontology/NANDO_2201289 ペリツェウス・メルツバッハ様病１ Pelizaeus-Merzbacher like disease 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:2200991 http://nanbyodata.jp/ontology/NANDO_2200991 常染色体劣性遺伝性魚鱗癬 Autosomal recessive congenital ichthyosis 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:2201258 http://nanbyodata.jp/ontology/NANDO_2201258 血管型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, vascular type 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:2201077 http://nanbyodata.jp/ontology/NANDO_2201077 BH4反応性高フェニルアラニン血症 BH4-responsive hyperphenylalaninemia MONDO:0017389 http://purl.obolibrary.org/obo/MONDO_0017389 http://www.w3.org/2004/02/skos/core#exactMatch テトラヒドロビオプテリン反応性高フェニルアラニン血症/フェニルケトン尿症 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Orphanet:293284 https://www.orpha.net/en/disease/detail/293284 NANDO:2201229 http://nanbyodata.jp/ontology/NANDO_2201229 乳児型ポンペ病 Classic infantile Pompe disease 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:2201159 http://nanbyodata.jp/ontology/NANDO_2201159 肝型糖原病IV型 Glycogen storage disease type IV, hepatic form 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 非進行性肝型糖原病IV型 Glycogen storage disease type IV, non-progressive hepatic form 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 致死性神経・筋型糖原病IV型 Glycogen storage disease type IV, fatal neuromuscular form 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 幼児筋・肝型糖原病IV型 Glycogen storage disease type IV, childhood combined hepatic and myopathic form 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:2201202 http://nanbyodata.jp/ontology/NANDO_2201202 後期乳児型異染性白質ジストロフィー Metachromatic leukodystrophy, late infantile form 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 成人型異染性白質ジストロフィー Metachromatic leukodystrophy, adult form 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 乳児型α - マンノシドーシス Alpha-mannosidosis, infantile form 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 若年成人型α - マンノシドーシス Alpha-mannosidosis, adult form 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 中間型遊離シアル酸蓄積症 Intermediate severe Salla disease MONDO:0017737 http://purl.obolibrary.org/obo/MONDO_0017737 http://www.w3.org/2004/02/skos/core#exactMatch 中間型重症サラ病 intermediate severe Salla disease Orphanet:309331 https://www.orpha.net/en/disease/detail/309331 NANDO:2201006 http://nanbyodata.jp/ontology/NANDO_2201006 スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome 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 TRPV4異常症 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders MONDO:0018240 http://purl.obolibrary.org/obo/MONDO_0018240 http://www.w3.org/2004/02/skos/core#exactMatch ＴＲＰＶ４関連骨障害 TRPV4-related bone disorder Orphanet:364820 https://www.orpha.net/en/disease/detail/364820 NANDO:2201255 http://nanbyodata.jp/ontology/NANDO_2201255 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia 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:2201012 http://nanbyodata.jp/ontology/NANDO_2201012 低ホスファターゼ症 Hypophosphatasia 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:2201068 http://nanbyodata.jp/ontology/NANDO_2201068 家族性寒冷自己炎症症候群 familial cold autoinflammatory syndrome MONDO:0018768 http://purl.obolibrary.org/obo/MONDO_0018768 http://www.w3.org/2004/02/skos/core#exactMatch 家族性寒冷自己炎症症候群 familial cold autoinflammatory syndrome Orphanet:47045 https://www.orpha.net/en/disease/detail/47045 NANDO:2200996 http://nanbyodata.jp/ontology/NANDO_2200996 KID症候群 Keratitis-ichthyosis-deafness syndrome 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 レックリングハウゼン病 von Recklinghausen's disease 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 骨形成不全症 Osteogenesis imperfecta 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:2201232 http://nanbyodata.jp/ontology/NANDO_2201232 ウォルマン病 Wolman disease 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 コレステロールエステル蓄積症 Cholesterol ester storage disease 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:2201031 http://nanbyodata.jp/ontology/NANDO_2201031 原発性リンパ浮腫 Primary lymphedema 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 遺伝性出血性末梢血管拡張症 Hereditary hemorrhagic telangiectasia 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:2201191 http://nanbyodata.jp/ontology/NANDO_2201191 シアリドーシスI型 Sialidosis type 1 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 β - サラセミア β-thalassemia MONDO:0019402 http://purl.obolibrary.org/obo/MONDO_0019402 http://www.w3.org/2004/02/skos/core#exactMatch ベータサラセミア beta thalassemia Orphanet:848 https://www.orpha.net/en/disease/detail/848 NANDO:2201056 http://nanbyodata.jp/ontology/NANDO_2201056 若年性特発性関節炎（少関節炎） Oligoarticular juvenile idiopathic arthritis 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:2201509 http://nanbyodata.jp/ontology/NANDO_2201509 先天性ミオトニー Myotonia congenita 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 α2-PI 欠乏症 α2-plasmin inhibitor deficiency 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:2201367 http://nanbyodata.jp/ontology/NANDO_2201367 骨幹端異形成症 Metaphyseal dysplasias 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:2201409 http://nanbyodata.jp/ontology/NANDO_2201409 ビタミンB6依存性てんかん Vitamine B6-dependent epilepsy 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:2201531 http://nanbyodata.jp/ontology/NANDO_2201531 ラパデリノ症候群 RAPADILINO symdrome 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 ロスムンド・トムソン症候群 Rothmund-Thomson syndrome 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:2201433 http://nanbyodata.jp/ontology/NANDO_2201433 脊髄性筋萎縮症IV型 Spinal muscular atrophy type IV 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:2201351 http://nanbyodata.jp/ontology/NANDO_2201351 脊椎末梢異形成症 Spondyloperipheral dysplasia 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:2201404 http://nanbyodata.jp/ontology/NANDO_2201404 PCDH19関連症候群 PCDH19-related syndrome 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:2201301 http://nanbyodata.jp/ontology/NANDO_2201301 SLC6A8欠損症 SLC6A8 deficiency 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:2201393 http://nanbyodata.jp/ontology/NANDO_2201393 ＣＡＳＫ異常症 CASK abnormality 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 WDR45関連神経変性症 WDR45 associated neurodegeneration MONDO:0010476 http://purl.obolibrary.org/obo/MONDO_0010476 http://www.w3.org/2004/02/skos/core#exactMatch 脳内鉄沈着神経変性症5 neurodegeneration with brain iron accumulation 5 Orphanet:329284 https://www.orpha.net/en/disease/detail/329284 NANDO:1201150 http://nanbyodata.jp/ontology/NANDO_1201150 脳内鉄沈着神経変性症5型 Neurodegeneration with brain iron accumulation type5 MONDO:0010476 http://purl.obolibrary.org/obo/MONDO_0010476 http://www.w3.org/2004/02/skos/core#exactMatch 脳内鉄沈着神経変性症5 neurodegeneration with brain iron accumulation 5 Orphanet:329284 https://www.orpha.net/en/disease/detail/329284 NANDO:2201360 http://nanbyodata.jp/ontology/NANDO_2201360 末節骨短縮型点状軟骨異形成症 Brachytelephalangic chondrodysplasia punctata 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:2201397 http://nanbyodata.jp/ontology/NANDO_2201397 アイカルディ症候群 Aicardi syndrome 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:1201116 http://nanbyodata.jp/ontology/NANDO_1201116 ロウ症候群 Lowe syndrome 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:2201475 http://nanbyodata.jp/ontology/NANDO_2201475 バッド・キアリ症候群 Budd-Chiari syndrome 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 進行性家族性肝内胆汁うっ滞症2型 Progressive familial intrahepatic cholestasis type 2 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 進行性家族性肝内胆汁うっ滞症3型 Progressive familial intrahepatic cholestasis type 3 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:1201152 http://nanbyodata.jp/ontology/NANDO_1201152 無セルロプラスミン血症 Aceruloplasminemia 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:2201294 http://nanbyodata.jp/ontology/NANDO_2201294 サラ病 Salla disease 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 早発性関節症を伴う軽症脊椎骨端異形成症 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis 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:2201417 http://nanbyodata.jp/ontology/NANDO_2201417 ヴィーデマン・スタイナー症候群 Wiedemann-Steiner syndrome 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 後天性部分性脂肪萎縮症 Acquired partial lipodystrophy MONDO:0012104 http://purl.obolibrary.org/obo/MONDO_0012104 http://www.w3.org/2004/02/skos/core#exactMatch 後天性部分型リポジストロフィー acquired partial lipodystrophy Orphanet:79087 https://www.orpha.net/en/disease/detail/79087 NANDO:2201298 http://nanbyodata.jp/ontology/NANDO_2201298 脱髄型末梢神経障害、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease 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 中足骨短縮を伴う脊椎骨端異形成症 Spondyloepiphyseal dysplasia with metatarsal shortening 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:2201411 http://nanbyodata.jp/ontology/NANDO_2201411 ピリドキサール依存症 Pyridoxal 5'-phosphate-dependent epilepsy MONDO:0012407 http://purl.obolibrary.org/obo/MONDO_0012407 http://www.w3.org/2004/02/skos/core#exactMatch ピリドキサールリン酸反応性発作 pyridoxal phosphate-responsive seizures Orphanet:79096 https://www.orpha.net/en/disease/detail/79096 NANDO:2201296 http://nanbyodata.jp/ontology/NANDO_2201296 先天性白内障を伴う髄鞘形成不全症 Hypomyelination and congenital cataract 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:2201419 http://nanbyodata.jp/ontology/NANDO_2201419 ピット・ホプキンス症候群 Pitt-Hopkins syndrome MONDO:0012589 http://purl.obolibrary.org/obo/MONDO_0012589 http://www.w3.org/2004/02/skos/core#exactMatch Pitt-Hopkins症候群 Pitt-Hopkins syndrome Orphanet:2896 https://www.orpha.net/en/disease/detail/2896 NANDO:2201293 http://nanbyodata.jp/ontology/NANDO_2201293 Hsp60シャペロン病 Mitochondrial Hsp60 chaperonopathy 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:2201299 http://nanbyodata.jp/ontology/NANDO_2201299 AGAT欠損症 AGAT deficiency 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 GAMT欠損症 GAMT deficiency MONDO:0012999 http://purl.obolibrary.org/obo/MONDO_0012999 http://www.w3.org/2004/02/skos/core#exactMatch グアニジノ酢酸メチルトランスフェラーゼ欠損症 guanidinoacetate methyltransferase deficiency Orphanet:382 https://www.orpha.net/en/disease/detail/382 NANDO:2201389 http://nanbyodata.jp/ontology/NANDO_2201389 ADTKD-REN ADTKD-REN 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:1201113 http://nanbyodata.jp/ontology/NANDO_1201113 PAI-1 欠乏症 PAI-1 deficiency MONDO:0013227 http://purl.obolibrary.org/obo/MONDO_0013227 http://www.w3.org/2004/02/skos/core#exactMatch 先天性プラスミノーゲン活性化阻害因子1型欠損症 congenital plasminogen activator inhibitor type 1 deficiency Orphanet:465 https://www.orpha.net/en/disease/detail/465 NANDO:2201416 http://nanbyodata.jp/ontology/NANDO_2201416 バインブリッジ・ロパース症候群 Bainbridge–Ropers syndrome MONDO:0014205 http://purl.obolibrary.org/obo/MONDO_0014205 http://www.w3.org/2004/02/skos/core#exactMatch ASXL3欠損症候群による重症経口摂取困難-発育不全-小頭症 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 先天性グリコシル化異常症 Congenital disorders of glycosylation 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 環状20番染色体症候群 Ring chromosome 20 syndrome 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:2201366 http://nanbyodata.jp/ontology/NANDO_2201366 頭蓋骨幹端異形成症 Craniometaphyseal dysplasia 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:2201462 http://nanbyodata.jp/ontology/NANDO_2201462 両側腎無発生 Bilateral renal agenesis MONDO:0015986 http://purl.obolibrary.org/obo/MONDO_0015986 http://www.w3.org/2004/02/skos/core#exactMatch 両側性腎無発生 bilateral renal agenesis Orphanet:1848 https://www.orpha.net/en/disease/detail/1848 NANDO:2201440 http://nanbyodata.jp/ontology/NANDO_2201440 好酸球性胃腸炎 Eosinophilic gastroenteritis 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 タナトフォリック骨異形成症 Thanatophoric dysplasia 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:2201499 http://nanbyodata.jp/ontology/NANDO_2201499 限局性皮質異形成タイプ1a Focal cortical dysplasia type 1a 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 限局性皮質異形成タイプ1b Focal cortical dysplasia type 1b 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 限局性皮質異形成タイプ1c Focal cortical dysplasia type 1c 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 限局性皮質異形成タイプ2a Focal cortical dysplasia type 2a 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 限局性皮質異形成タイプ2b Focal cortical dysplasia type 2b 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:2201408 http://nanbyodata.jp/ontology/NANDO_2201408 遊走性焦点発作を伴う乳児てんかん Epilepsy of infancy with migrating focal seizures MONDO:0017385 http://purl.obolibrary.org/obo/MONDO_0017385 http://www.w3.org/2004/02/skos/core#exactMatch 乳児悪性焦点移動性部分発作 malignant migrating partial seizures of infancy Orphanet:293181 https://www.orpha.net/en/disease/detail/293181 NANDO:2201341 http://nanbyodata.jp/ontology/NANDO_2201341 単純型表皮水疱症 Epidermolysis bullosa simplex 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 接合部型表皮水疱症 Junctional epidermolysis bullosa 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 硬化性骨症 Sclerosteosis 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:2201488 http://nanbyodata.jp/ontology/NANDO_2201488 脊髄空洞症 Syringomyelia 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:2201305 http://nanbyodata.jp/ontology/NANDO_2201305 非症候性頭蓋骨縫合早期癒合症（前頭縫合） Non-syndromic metopic craniosynostosis 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:2201480 http://nanbyodata.jp/ontology/NANDO_2201480 腫瘍性骨軟化症 Tumor-induced hypophosphatemic osteomalacia 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:2201441 http://nanbyodata.jp/ontology/NANDO_2201441 Proton pump inhibitor-responsive esophageal eosinophilia Proton-pump inhibitor-responsive esophageal eosinophilia MONDO:0018468 http://purl.obolibrary.org/obo/MONDO_0018468 http://www.w3.org/2004/02/skos/core#exactMatch プロトンポンプ阻害薬反応性食道好酸球増加症 proton-pump inhibitor-responsive esophageal eosinophilia Orphanet:411696 https://www.orpha.net/en/disease/detail/411696 NANDO:2201295 http://nanbyodata.jp/ontology/NANDO_2201295 小脳萎縮と脳梁低形成を伴うびまん性大脳白質形成不全症 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:0018655 http://purl.obolibrary.org/obo/MONDO_0018655 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全-小脳萎縮-脳梁形成不全症候群 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Orphanet:447893 https://www.orpha.net/en/disease/detail/447893 NANDO:2201444 http://nanbyodata.jp/ontology/NANDO_2201444 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy 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:1201159 http://nanbyodata.jp/ontology/NANDO_1201159 ロイス・ディーツ症候群 Loeys–Dietz syndrome 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:2201513 http://nanbyodata.jp/ontology/NANDO_2201513 ナトリウムチャネルミオトニー Sodium channel myotonia 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 限局性皮質異形成 Focal cortical dysplasia 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:2201322 http://nanbyodata.jp/ontology/NANDO_2201322 視神経脊髄炎 Neuromyelitis optica 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:2201458 http://nanbyodata.jp/ontology/NANDO_2201458 新生児・乳児期発症型若年性ポリポーシス Juvenile polyposis of infancy 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 後天性全身性脂肪萎縮症 Acquired generalized lipodystrophy 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:2201362 http://nanbyodata.jp/ontology/NANDO_2201362 Astley-Kendall骨異形成症 Astley-Kendall dysplasia 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:1200470 http://nanbyodata.jp/ontology/NANDO_1200470 全身型若年性特発性関節炎 Systemic juvenile idiopathic arthritis 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:1200211 http://nanbyodata.jp/ontology/NANDO_1200211 免疫グロブリン性アミロイドーシス Amyloid light-chain amyloidosis 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:1200698 http://nanbyodata.jp/ontology/NANDO_1200698 修正大血管転位症 Corrected transposition of great arteries 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:1200956 http://nanbyodata.jp/ontology/NANDO_1200956 良性成人型家族性ミオクローヌスてんかん Benign adult familial myoclonus epilepsy 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ーヌスてんかん benign adult familial myoclonic epilepsy Orphanet:86814 https://www.orpha.net/en/disease/detail/86814 NANDO:1200596 http://nanbyodata.jp/ontology/NANDO_1200596 片側痙攣・片麻痺・てんかん症候群 Hemiconvulsion-hemiplegia-epilepsy syndrome MONDO:0019485 http://purl.obolibrary.org/obo/MONDO_0019485 http://www.w3.org/2004/02/skos/core#exactMatch 特発性片側けいれん-片麻痺症候群 idiopathic hemiconvulsion-hemiplegia syndrome Orphanet:86908 https://www.orpha.net/en/disease/detail/86908 NANDO:1200589 http://nanbyodata.jp/ontology/NANDO_1200589 ミオクロニー欠神てんかん Myoclonic absence epilepsy MONDO:0019487 http://purl.obolibrary.org/obo/MONDO_0019487 http://www.w3.org/2004/02/skos/core#exactMatch ミオクローヌス欠神を伴うてんかん epilepsy with myoclonic absences Orphanet:86911 https://www.orpha.net/en/disease/detail/86911 NANDO:1200941 http://nanbyodata.jp/ontology/NANDO_1200941 アッシャー症候群 Usher syndrome 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:1201000 http://nanbyodata.jp/ontology/NANDO_1201000 前眼部形成異常 Anterior segment dysgenesis 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:1200306 http://nanbyodata.jp/ontology/NANDO_1200306 温式自己免疫性溶血性貧血 Warm antibody hemolytic anemia 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 発作性寒冷ヘモグロビン尿症 Paroxysmal cold hemoglobinuria 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 混合型自己免疫性溶血性貧血 Mixed-type autoimmune hemolytic anemia 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:1200608 http://nanbyodata.jp/ontology/NANDO_1200608 色素性乾皮症 Xeroderma pigmentosum 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:1200760 http://nanbyodata.jp/ontology/NANDO_1200760 ツェルベーガー症候群 Zellweger syndrome MONDO:0019609 http://purl.obolibrary.org/obo/MONDO_0019609 http://www.w3.org/2004/02/skos/core#exactMatch Zellweger症候群 Zellweger spectrum disorders Orphanet:772 https://www.orpha.net/en/disease/detail/772 NANDO:1200760 http://nanbyodata.jp/ontology/NANDO_1200760 ツェルベーガー症候群 Zellweger syndrome MONDO:0019609 http://purl.obolibrary.org/obo/MONDO_0019609 http://www.w3.org/2004/02/skos/core#exactMatch Zellweger症候群 Zellweger spectrum disorders Orphanet:912 https://www.orpha.net/en/disease/detail/912 NANDO:1200377 http://nanbyodata.jp/ontology/NANDO_1200377 下垂体性TSH分泌亢進症 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome 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 非特異的間質性肺炎 Non-specific interstitial pneumonia MONDO:0019622 http://purl.obolibrary.org/obo/MONDO_0019622 http://www.w3.org/2004/02/skos/core#exactMatch 非特異性間質性肺炎 non-specific interstitial pneumonia Orphanet:91364 https://www.orpha.net/en/disease/detail/91364 NANDO:1200365 http://nanbyodata.jp/ontology/NANDO_1200365 遺伝性血管性浮腫 Hereditary angioedema 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:1200783 http://nanbyodata.jp/ontology/NANDO_1200783 ビタミンD依存症2型 Vitamin D-dependent rickets, type 2 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:1201062 http://nanbyodata.jp/ontology/NANDO_1201062 家族性アミロイドニューロパチーIII型 Familial amyloid polyneuropathy type 3 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:1200739 http://nanbyodata.jp/ontology/NANDO_1200739 一次性膜性増殖性糸球体腎炎II型 Primary membranoproliferative glomerulonephritis type II 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:1200318 http://nanbyodata.jp/ontology/NANDO_1200318 後天性原発性血栓性血小板減少性紫斑病 Acquired idiopathic thrombotic thrombocytopenic purpura 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:2100156 http://nanbyodata.jp/ontology/NANDO_2100156 自己炎症性疾患 Autoinflammatory disease 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:1200509 http://nanbyodata.jp/ontology/NANDO_1200509 脊髄髄膜瘤 Myelomeningocele 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:1200819 http://nanbyodata.jp/ontology/NANDO_1200819 肝性骨髄性ポルフィリン症 Hepatoerythropoietic porphyria 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:1200246 http://nanbyodata.jp/ontology/NANDO_1200246 中毒性表皮壊死症 Toxic epidermal necrolysis 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:1200477 http://nanbyodata.jp/ontology/NANDO_1200477 先天性ミオパチー Congenital myopathy 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:2100234 http://nanbyodata.jp/ontology/NANDO_2100234 先天性ミオパチー Congenital myopathy 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:1200776 http://nanbyodata.jp/ontology/NANDO_1200776 偽性副甲状腺機能低下症 Pseudohypoparathyroidism 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:1200645 http://nanbyodata.jp/ontology/NANDO_1200645 エーラス・ダンロス症候群 Ehlers-Danlos Syndrome 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:1200953 http://nanbyodata.jp/ontology/NANDO_1200953 進行性ミオクローヌスてんかん Progressive myoclonus epilepsy 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:2100237 http://nanbyodata.jp/ontology/NANDO_2100237 進行性ミオクローヌスてんかん Progressive myoclonus epilepsy 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:1200861 http://nanbyodata.jp/ontology/NANDO_1200861 家族性部分性脂肪萎縮症 Familial partial lipodystrophy MONDO:0020088 http://purl.obolibrary.org/obo/MONDO_0020088 http://www.w3.org/2004/02/skos/core#exactMatch 家族性部分型リポジストロフィー familial partial lipodystrophy Orphanet:98306 https://www.orpha.net/en/disease/detail/98306 NANDO:1200892 http://nanbyodata.jp/ontology/NANDO_1200892 遺伝性鉄芽球性貧血 Hereditary sideroblastic anemia 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:1200305 http://nanbyodata.jp/ontology/NANDO_1200305 自己免疫性溶血性貧血 Autoimmune hemolytic anemia 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:2100181 http://nanbyodata.jp/ontology/NANDO_2100181 自己免疫性溶血性貧血 Autoimmune hemolytic anemia 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:1200486 http://nanbyodata.jp/ontology/NANDO_1200486 筋ジストロフィー Muscular dystrophy 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:2100233 http://nanbyodata.jp/ontology/NANDO_2100233 筋ジストロフィー Muscular dystrophy 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:2200006 http://nanbyodata.jp/ontology/NANDO_2200006 成熟を伴う急性骨髄性白血病 Acute myeloid leukemia with maturation 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:1200886 http://nanbyodata.jp/ontology/NANDO_1200886 先天性赤血球形成異常性貧血 Type I Congenital dyserythropoietic anemia type I 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:1200889 http://nanbyodata.jp/ontology/NANDO_1200889 後天性赤芽球癆 Acquired pure red cell aplasia 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:1201079 http://nanbyodata.jp/ontology/NANDO_1201079 脳室周囲結節状異所性灰白質 Periventricular nodular heterotopia 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:1200036 http://nanbyodata.jp/ontology/NANDO_1200036 MSA-P Multiple system atrophy, Parkinsonian type 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:1200963 http://nanbyodata.jp/ontology/NANDO_1200963 先天性僧帽弁狭窄症 Congenital mitral stenosis 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:1200899 http://nanbyodata.jp/ontology/NANDO_1200899 自己免疫性後天性フォンウィルブランド因子欠乏症 Acquired von Willebrand disease 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:1200588 http://nanbyodata.jp/ontology/NANDO_1200588 海馬硬化を伴う内側側頭葉てんかん Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis 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:1201070 http://nanbyodata.jp/ontology/NANDO_1201070 皮質下帯状異所性灰白質 Subcortical band heterotopia 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:1200563 http://nanbyodata.jp/ontology/NANDO_1200563 片側巨脳症 Hemimegalencephaly 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:2200001 http://nanbyodata.jp/ontology/NANDO_2200001 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 http://purl.obolibrary.org/obo/MONDO_0020511 http://www.w3.org/2004/02/skos/core#exactMatch 前駆B細胞性急性リンパ芽球性白血病 precursor B-cell acute lymphoblastic leukemia Orphanet:99860 https://www.orpha.net/en/disease/detail/99860 NANDO:1200630 http://nanbyodata.jp/ontology/NANDO_1200630 Conradi-Hünermann-Happle 症候群 Conradi Hünermann Happle syndrome 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 常染色体優性表皮融解性魚鱗癬 Autosomal dominant epidermolytic ichthyosis MONDO:0020702 http://purl.obolibrary.org/obo/MONDO_0020702 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体顕性表皮融解性魚鱗癬 autosomal dominant epidermolytic ichthyosis Orphanet:312 https://www.orpha.net/en/disease/detail/312 NANDO:1200897 http://nanbyodata.jp/ontology/NANDO_1200897 自己免疫性後天性凝固第 XIII/13 因子欠乏症 Autoimmune hemorrhaphilia XIII/13 MONDO:0021133 http://purl.obolibrary.org/obo/MONDO_0021133 http://www.w3.org/2004/02/skos/core#exactMatch 後天性第XIII因子欠乏症 acquired factor XIII deficiency Orphanet:599513 https://www.orpha.net/en/disease/detail/599513 NANDO:1201048 http://nanbyodata.jp/ontology/NANDO_1201048 自己免疫性後天性凝固第X因子欠乏症 Acquired factor X inhibitor 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:1200537 http://nanbyodata.jp/ontology/NANDO_1200537 脳内鉄沈着神経変性症2型 Neurodegeneration with brain iron accumulation type 2 MONDO:0024457 http://purl.obolibrary.org/obo/MONDO_0024457 http://www.w3.org/2004/02/skos/core#exactMatch 脳内鉄沈着神経変性症2A neurodegeneration with brain iron accumulation 2A Orphanet:35069 https://www.orpha.net/en/disease/detail/35069 NANDO:1200219 http://nanbyodata.jp/ontology/NANDO_1200219 眼咽頭遠位型ミオパチー Oculopharyngodistal myopathy 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 医原性クロイツフェルト・ヤコブ病 Iatrogenic Creutzfeldt-Jakob disease 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:1200275 http://nanbyodata.jp/ontology/NANDO_1200275 無筋症性皮膚筋炎 Amyopathic dermatomyositis 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:1200612 http://nanbyodata.jp/ontology/NANDO_1200612 常染色体劣性表皮融解性魚鱗癬 Autosomal recessive epidermolytic ichthyosis MONDO:0044742 http://purl.obolibrary.org/obo/MONDO_0044742 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性表皮融解性魚鱗癬 autosomal recessive epidermolytic ichthyosis Orphanet:512103 https://www.orpha.net/en/disease/detail/512103 NANDO:1200511 http://nanbyodata.jp/ontology/NANDO_1200511 遺伝性ジストニア Hereditary dystonia 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:1200180 http://nanbyodata.jp/ontology/NANDO_1200180 複合体I欠損症 Mitochondrial complex I deficiency 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:2201055 http://nanbyodata.jp/ontology/NANDO_2201055 若年性特発性関節炎（全身型） Systemic juvenile idiopathic arthritis 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 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 juvenile idiopathic arthritis 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 若年性特発性関節炎（付着部炎関連関節炎） Enthesitis-related juvenile idiopathic arthritis MONDO:0019437 http://purl.obolibrary.org/obo/MONDO_0019437 http://www.w3.org/2004/02/skos/core#exactMatch 付着部炎関連若年性特発性関節炎 enthesitis-related juvenile idiopathic arthritis Orphanet:85438 https://www.orpha.net/en/disease/detail/85438 NANDO:2200012 http://nanbyodata.jp/ontology/NANDO_2200012 NK細胞白血病 NK cell leukemia MONDO:0019470 http://purl.obolibrary.org/obo/MONDO_0019470 http://www.w3.org/2004/02/skos/core#exactMatch 活動性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 節外性NK/T細胞リンパ腫-鼻型 Extranodal NK/T-cell lymphoma, nasal type 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 皮下脂肪織炎様T細胞リンパ腫 Sucutaneous panniculitis-like T-cell lymphoma 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細胞リンパ腫 subcutaneous panniculitis-like T-cell lymphoma Orphanet:86884 https://www.orpha.net/en/disease/detail/86884 NANDO:2200036 http://nanbyodata.jp/ontology/NANDO_2200036 ランゲルハンス細胞肉腫 Langerhans cell sarcoma 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:2200410 http://nanbyodata.jp/ontology/NANDO_2200410 ターナー症候群 Turner syndrome 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:2200619 http://nanbyodata.jp/ontology/NANDO_2200619 発作性寒冷ヘモグロビン尿症 Paroxysmal cold hemoglobinuria 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:2200640 http://nanbyodata.jp/ontology/NANDO_2200640 志賀毒素産生腸管出血性病原大腸菌による溶血性尿毒症症候群 Shiga toxin-producing escherichia coli hemolytic uremic syndrome 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:2201002 http://nanbyodata.jp/ontology/NANDO_2201002 色素性乾皮症 Xeroderma pigmentosum 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 若年性特発性関節炎（分類不能関節炎） Unclassifiable Juvenile idiopathic arthritis 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:2200795 http://nanbyodata.jp/ontology/NANDO_2200795 遺伝性血管性浮腫 Hereditary angioedema 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:2200155 http://nanbyodata.jp/ontology/NANDO_2200155 低形成腎 Hypoplastic kidney MONDO:0019637 http://purl.obolibrary.org/obo/MONDO_0019637 http://www.w3.org/2004/02/skos/core#exactMatch 腎低形成 renal hypoplasia Orphanet:93101 https://www.orpha.net/en/disease/detail/93101 NANDO:2200161 http://nanbyodata.jp/ontology/NANDO_2200161 腎異形成 Renal dysplasia 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 巨大腎杯症 Megacalycosis 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:2201346 http://nanbyodata.jp/ontology/NANDO_2201346 軟骨低発生症 Hypochondrogenesis 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:2201017 http://nanbyodata.jp/ontology/NANDO_2201017 点状軟骨異形成症 Chondrodysplasia punctata 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:2200419 http://nanbyodata.jp/ontology/NANDO_2200419 若年性多発性筋炎 Juvenile polymyositis 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:2200814 http://nanbyodata.jp/ontology/NANDO_2200814 脊髄髄膜瘤 Myelomeningocele 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:2200923 http://nanbyodata.jp/ontology/NANDO_2200923 自己免疫性腸症 Autoimmune enteropathy 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:2201270 http://nanbyodata.jp/ontology/NANDO_2201270 肝性骨髄性ポルフィリン症 Hepatoerythropoietic porphyria 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:2200195 http://nanbyodata.jp/ontology/NANDO_2200195 気管軟化症 Tracheomalacia MONDO:0019804 http://purl.obolibrary.org/obo/MONDO_0019804 http://www.w3.org/2004/02/skos/core#exactMatch 先天性気管軟化症 congenital tracheomalacia Orphanet:95430 https://www.orpha.net/en/disease/detail/95430 NANDO:2201007 http://nanbyodata.jp/ontology/NANDO_2201007 中毒性表皮壊死症 Toxic epidermal necrolysis 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:2200313 http://nanbyodata.jp/ontology/NANDO_2200313 後天性下垂体機能低下症 Acquired hypopituitarism 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 異所性甲状腺 Ectoic thyroid 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 無甲状腺症 Thyroid agenesis 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 先端巨大症 Acromegaly 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:2200875 http://nanbyodata.jp/ontology/NANDO_2200875 還元小体ミオパチー Reducing body myopathy 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:2200397 http://nanbyodata.jp/ontology/NANDO_2200397 グルカゴノーマ Glucagonoma 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 VIP産生腫瘍 Vipoma 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:2200171 http://nanbyodata.jp/ontology/NANDO_2200171 多房性腎嚢胞 Multilocular cysts of the kidney 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:2200349 http://nanbyodata.jp/ontology/NANDO_2200349 偽性副甲状腺機能低下症 Pseudohypoparathyroidism 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:2200282 http://nanbyodata.jp/ontology/NANDO_2200282 一側肺動脈欠損 Unilateral absence of a pulmonary artery 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:2200118 http://nanbyodata.jp/ontology/NANDO_2200118 中枢神経奇形症候群 Central nervous system malformation syndrome 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:2200393 http://nanbyodata.jp/ontology/NANDO_2200393 46,XX性分化疾患 Disorders of sex development of 46,XX MONDO:0020040 http://purl.obolibrary.org/obo/MONDO_0020040 http://www.w3.org/2004/02/skos/core#exactMatch 46,XY性分化疾患 46,XY disorder of sex development Orphanet:98085 https://www.orpha.net/en/disease/detail/98085 NANDO:2200280 http://nanbyodata.jp/ontology/NANDO_2200280 肺動脈弁欠損 Absent pulmonary valve 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:2200607 http://nanbyodata.jp/ontology/NANDO_2200607 エーラス・ダンロス症候群 Ehlers-Danlos syndrome 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 口唇赤血球症 Hereditary stomatocytosis MONDO:0020102 http://purl.obolibrary.org/obo/MONDO_0020102 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性口唇赤血球症 hereditary stomatocytosis Orphanet:98365 https://www.orpha.net/en/disease/detail/98365 NANDO:2200014 http://nanbyodata.jp/ontology/NANDO_2200014 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia 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:2200017 http://nanbyodata.jp/ontology/NANDO_2200017 急性未分化型白血病 Acute undifferentiated leukemia 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 未分化大細胞リンパ腫 Anaplastic large cell lymphoma 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:2200613 http://nanbyodata.jp/ontology/NANDO_2200613 後天性赤芽球癆 Acquired pure red cell aplasia 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:2200281 http://nanbyodata.jp/ontology/NANDO_2200281 肺動脈上行大動脈起始症 Origin of pulmonary artery from ascending aorta 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:2200308 http://nanbyodata.jp/ontology/NANDO_2200308 僧帽弁弁上輪 Supramitral ring MONDO:0020400 http://purl.obolibrary.org/obo/MONDO_0020400 http://www.w3.org/2004/02/skos/core#exactMatch 先天性僧帽弁弁上輪 congenital supravalvular mitral ring Orphanet:99059 https://www.orpha.net/en/disease/detail/99059 NANDO:2200290 http://nanbyodata.jp/ontology/NANDO_2200290 重複大動脈弓症 Double aortic arch disease 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 左室右房交通症 Left ventricular-right atrial communication 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 二次孔型心房中隔欠損症 Atrial septal defect, ostium secundum type MONDO:0020434 http://purl.obolibrary.org/obo/MONDO_0020434 http://www.w3.org/2004/02/skos/core#exactMatch 心房中隔欠損症, 二次孔型 atrial septal defect, ostium secundum type Orphanet:99103 https://www.orpha.net/en/disease/detail/99103 NANDO:2200267 http://nanbyodata.jp/ontology/NANDO_2200267 静脈洞型心房中隔欠損症 Atrial septal defect, sinus venosus type MONDO:0020436 http://purl.obolibrary.org/obo/MONDO_0020436 http://www.w3.org/2004/02/skos/core#exactMatch 心房中隔欠損症, 静脈洞型 atrial septal defect, sinus venosus type Orphanet:99105 https://www.orpha.net/en/disease/detail/99105 NANDO:2200272 http://nanbyodata.jp/ontology/NANDO_2200272 部分肺静脈還流異常症 Partial anomalous pulmonary venous connection 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:2200625 http://nanbyodata.jp/ontology/NANDO_2200625 不安定ヘモグロビン症 Unstable hemoglobin disease 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:2200314 http://nanbyodata.jp/ontology/NANDO_2200314 下垂体性巨人症 Pituitary gigantism 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:2200812 http://nanbyodata.jp/ontology/NANDO_2200812 慢性移植片対宿主病 Chronic graft-versus-host disease 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:2200101 http://nanbyodata.jp/ontology/NANDO_2200101 異型奇形腫瘍／ラブドイド腫瘍 Atypical teratoid, rhabdoid tumour 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:2200902 http://nanbyodata.jp/ontology/NANDO_2200902 自己免疫介在性脳炎・脳症 Autoimmune encephalitis 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:2200988 http://nanbyodata.jp/ontology/NANDO_2200988 常染色体優性表皮融解性魚鱗癬 Autosomal dominant epidermolytic ichthyosis MONDO:0020702 http://purl.obolibrary.org/obo/MONDO_0020702 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体顕性表皮融解性魚鱗癬 autosomal dominant epidermolytic ichthyosis Orphanet:312 https://www.orpha.net/en/disease/detail/312 NANDO:2200018 http://nanbyodata.jp/ontology/NANDO_2200018 混合型急性白血病 Mixed phenotype acute leukemia 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:2200915 http://nanbyodata.jp/ontology/NANDO_2200915 家族性腺腫性ポリポーシス Familial adenomatous polyposis 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:2201317 http://nanbyodata.jp/ontology/NANDO_2201317 抗NMDA受容体脳炎 Anti-NMDA receptor encephalitis 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:2201016 http://nanbyodata.jp/ontology/NANDO_2201016 2型コラーゲン異常症関連疾患 Type II collagenopathy 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:2200816 http://nanbyodata.jp/ontology/NANDO_2200816 仙尾部奇形腫 Sacrococcygeal teratoma 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:2200989 http://nanbyodata.jp/ontology/NANDO_2200989 常染色体劣性表皮融解性魚鱗癬 Autosomal recessive epidermolytic ichthyosis MONDO:0044742 http://purl.obolibrary.org/obo/MONDO_0044742 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性表皮融解性魚鱗癬 autosomal recessive epidermolytic ichthyosis Orphanet:512103 https://www.orpha.net/en/disease/detail/512103 NANDO:2200737 http://nanbyodata.jp/ontology/NANDO_2200737 STAT5b欠損症 STAT5b deficiency MONDO:0100211 http://purl.obolibrary.org/obo/MONDO_0100211 http://www.w3.org/2004/02/skos/core#exactMatch 免疫調節障害を伴う成長ホルモン不応性症候群1, 常染色体潜性 growth hormone insensitivity with immune dysregulation 1, autosomal recessive Orphanet:220465 https://www.orpha.net/en/disease/detail/220465 NANDO:1201121 http://nanbyodata.jp/ontology/NANDO_1201121 全身性 AL アミロイドーシス Systemic AL Amyloidosis 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:2201406 http://nanbyodata.jp/ontology/NANDO_2201406 ミオクロニー欠神てんかん Epilepsy with myoclonic absence MONDO:0019487 http://purl.obolibrary.org/obo/MONDO_0019487 http://www.w3.org/2004/02/skos/core#exactMatch ミオクローヌス欠神を伴うてんかん epilepsy with myoclonic absences Orphanet:86911 https://www.orpha.net/en/disease/detail/86911 NANDO:2201420 http://nanbyodata.jp/ontology/NANDO_2201420 限局性強皮症 Localized scleroderma/morphea 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 一側腎無形成 Unilateral renal agenesis MONDO:0019636 http://purl.obolibrary.org/obo/MONDO_0019636 http://www.w3.org/2004/02/skos/core#exactMatch 腎無発生, 一側性 renal agenesis, unilateral Orphanet:93100 https://www.orpha.net/en/disease/detail/93100 NANDO:1201133 http://nanbyodata.jp/ontology/NANDO_1201133 若年性多発性筋炎 juvenile polymyositis 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:2201446 http://nanbyodata.jp/ontology/NANDO_2201446 先天性部分性脂肪萎縮症 Familial partial lipodystrophy MONDO:0020088 http://purl.obolibrary.org/obo/MONDO_0020088 http://www.w3.org/2004/02/skos/core#exactMatch 家族性部分型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 遺伝性鉄芽球性貧血 Hereditary sideroblastic anemia 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 片側巨脳症 Hemimegaloencephaly 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:2201357 http://nanbyodata.jp/ontology/NANDO_2201357 X染色体優性 Conradi-Hunermann型点状軟骨異形成症 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type 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:2201388 http://nanbyodata.jp/ontology/NANDO_2201388 ADTKD-MUC1 ADTKD-MUC1 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:1201155 http://nanbyodata.jp/ontology/NANDO_1201155 脳内鉄沈着神経変性症2A型 Neurodegeneration with brain iron accumulation type2A MONDO:0024457 http://purl.obolibrary.org/obo/MONDO_0024457 http://www.w3.org/2004/02/skos/core#exactMatch 脳内鉄沈着神経変性症2A neurodegeneration with brain iron accumulation 2A Orphanet:35069 https://www.orpha.net/en/disease/detail/35069 NANDO:2201435 http://nanbyodata.jp/ontology/NANDO_2201435 永続性新生児糖尿病 Permanent neonatal diabetes mellitus 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:2201526 http://nanbyodata.jp/ontology/NANDO_2201526 トリーチャーコリンズ症候群 Treacher Collins syndrome 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 LMNB1 関連大脳白質脳症 Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 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 Andersen-Tawil症候群 Andersen-Tawil syndrome 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 Andersen-Tawil症候群 Andersen-Tawil syndrome 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 先天性食道閉鎖症 Congenital esophageal atresia 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:1201165 http://nanbyodata.jp/ontology/NANDO_1201165 コケイン症候群III型 Cockayne syndrome type 3 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 Cockayne syndrome type 3 Orphanet:90324 https://www.orpha.net/en/disease/detail/90324 NANDO:1201154 http://nanbyodata.jp/ontology/NANDO_1201154 Woodhouse-Sakati症候群 Woodhouse-Sakati syndrome 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 コケイン症候群合併型 Xeroderma pigmentosum-Cockayne syndrome 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 Kufor-Rakeb症候群 Kufor-Rakeb syndrome 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:2201523 http://nanbyodata.jp/ontology/NANDO_2201523 鏡・緒方症候群 Kagami-Ogata syndrome MONDO:0016779 http://purl.obolibrary.org/obo/MONDO_0016779 http://www.w3.org/2004/02/skos/core#exactMatch 母性発現遺伝子14q32.2欠損による多発性先天奇形 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect Orphanet:254519 https://www.orpha.net/en/disease/detail/254519 NANDO:1201143 http://nanbyodata.jp/ontology/NANDO_1201143 DYT24 ジストニア DYT24 Dystonia 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 DYT25 ジストニア DYT25 Dystonia 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:2201525 http://nanbyodata.jp/ontology/NANDO_2201525 シャーフ・ヤング症候群 Schaaf-Yang syndrome MONDO:0014243 http://purl.obolibrary.org/obo/MONDO_0014243 http://www.w3.org/2004/02/skos/core#exactMatch Schaaf-Yang症候群 Schaaf-Yang syndrome Orphanet:398069 https://www.orpha.net/en/disease/detail/398069 NANDO:1201151 http://nanbyodata.jp/ontology/NANDO_1201151 脳内鉄沈着神経変性症6型 Neurodegeneration with brain iron accumulation type6 MONDO:0014290 http://purl.obolibrary.org/obo/MONDO_0014290 http://www.w3.org/2004/02/skos/core#exactMatch 脳内鉄沈着神経変性症6 neurodegeneration with brain iron accumulation 6 Orphanet:397725 https://www.orpha.net/en/disease/detail/397725 NANDO:2201524 http://nanbyodata.jp/ontology/NANDO_2201524 シア・ギブス症候群 Xia-Gibbs syndrome MONDO:0014358 http://purl.obolibrary.org/obo/MONDO_0014358 http://www.w3.org/2004/02/skos/core#exactMatch AHDC1関連知的障害-閉塞性睡眠時無呼吸-軽度異形症候群 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 乳児発症 STING 関連血管炎 STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy MONDO:0014405 http://purl.obolibrary.org/obo/MONDO_0014405 http://www.w3.org/2004/02/skos/core#exactMatch 乳児期発症STING関連血管障害 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 乳児発症ＳＴＩＮＧ関連血管炎 STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy MONDO:0014405 http://purl.obolibrary.org/obo/MONDO_0014405 http://www.w3.org/2004/02/skos/core#exactMatch 乳児期発症STING関連血管障害 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 PURA関連神経発達異常症 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:0014512 http://purl.obolibrary.org/obo/MONDO_0014512 http://www.w3.org/2004/02/skos/core#exactMatch 点変異によるPURA関連重症新生児筋緊張低下-けいれん-脳症症候群 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Orphanet:438216 https://www.orpha.net/en/disease/detail/438216 NANDO:1201146 http://nanbyodata.jp/ontology/NANDO_1201146 DYT27 ジストニア DYT27 Dystonia 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 DYT29 ジストニア DYT29 Dystonia 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 DYT28 ジストニア DYT28 Dystonia 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:2201528 http://nanbyodata.jp/ontology/NANDO_2201528 ロスムンド・トムソン症候群 type1 Rothmund-Thomson syndrome type1 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 ロスムンド・トムソン症候群 type2 Rothmund-Thomson syndrome type2 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:1201125 http://nanbyodata.jp/ontology/NANDO_1201125 遺伝性アポリポ蛋白 A-II アミロイドーシス Hereditary apolipoprotein A-II amyloidosis 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 AH アミロイド－シス AH amyloidosis 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 進行性家族性肝内胆汁うっ滞症　その他の型 Progressive Familial Intrahepatic Cholestasis, other types 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 コケイン症候群I型 Cockayne syndrome type 1 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 コケイン症候群II型 Cockayne syndrome type 2 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 ファイファー症候群1型 Pfeiffer syndrome type 1 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 ファイファー症候群2型 Pfeiffer syndrome type 2 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 ファイファー症候群3型 Pfeiffer syndrome type 3 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 NANDO:2201533 http://nanbyodata.jp/ontology/NANDO_2201533 続発性脊髄空洞症 secondary syringomyelia 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:1200601 http://nanbyodata.jp/ontology/NANDO_1200601 睡眠時棘徐波活性化を示す発達性てんかん性脳症およびてんかん性脳症 Developmental and/or epileptic encephalopathy with spike-wave activation in sleep MONDO:0800501 http://purl.obolibrary.org/obo/MONDO_0800501 http://www.w3.org/2004/02/skos/core#exactMatch 睡眠時に棘徐波活性化を示す発達性てんかん性脳症 developmental and/or epileptic encephalopathy with spike-wave activation in sleep Orphanet:725 https://www.orpha.net/en/disease/detail/725