nando_id nando_uid nando_label_ja nando_label_en mondo_id property mondo_label_ja mondo_label_en mondo_url NANDO:1200714 http://nanbyodata.jp/ontology/NANDO_1200714 急速進行性糸球体腎炎 Rapidly progressive glomerulonephritis MONDO:0001645 http://www.w3.org/2004/02/skos/core#closeMatch 半月体形成性糸球体腎炎 crescentic glomerulonephritis https://monarchinitiative.org/MONDO:0001645 NANDO:1200482 http://nanbyodata.jp/ontology/NANDO_1200482 中心核ミオパチー Centronuclear myopathy MONDO:0002921 http://www.w3.org/2004/02/skos/core#closeMatch 先天性構造ミオパチー congenital structural myopathy https://monarchinitiative.org/MONDO:0002921 NANDO:1200173 http://nanbyodata.jp/ontology/NANDO_1200173 ミトコンドリア病 Mitochondrial diseases MONDO:0004069 http://www.w3.org/2004/02/skos/core#closeMatch 先天性ミトコンドリア代謝障害 inborn mitochondrial metabolism disorder https://monarchinitiative.org/MONDO:0004069 NANDO:1200446 http://nanbyodata.jp/ontology/NANDO_1200446 大腸型クローン病 Colonic Crohn's disease MONDO:0005011 http://www.w3.org/2004/02/skos/core#closeMatch クローン病 Crohn disease https://monarchinitiative.org/MONDO:0005011 NANDO:1200288 http://nanbyodata.jp/ontology/NANDO_1200288 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy MONDO:0005045 http://www.w3.org/2004/02/skos/core#closeMatch 肥大型心筋症 hypertrophic cardiomyopathy https://monarchinitiative.org/MONDO:0005045 NANDO:1200293 http://nanbyodata.jp/ontology/NANDO_1200293 特発性拘束型心筋症 Idiopathic restrictive cardiomyopathy MONDO:0005201 http://www.w3.org/2004/02/skos/core#closeMatch 拘束型心筋症 restrictive cardiomyopathy https://monarchinitiative.org/MONDO:0005201 NANDO:1200668 http://nanbyodata.jp/ontology/NANDO_1200668 ファイファー症候群 Pfeiffer syndrome MONDO:0005810 http://www.w3.org/2004/02/skos/core#closeMatch 伝染性単核症 infectious mononucleosis https://monarchinitiative.org/MONDO:0005810 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://www.w3.org/2004/02/skos/core#closeMatch 成長ホルモン産生性下垂体腺腫 growth hormone-producing pituitary gland adenoma https://monarchinitiative.org/MONDO:0006238 NANDO:1200386 http://nanbyodata.jp/ontology/NANDO_1200386 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://www.w3.org/2004/02/skos/core#closeMatch 成長ホルモン産生性下垂体腺腫 growth hormone-producing pituitary gland adenoma https://monarchinitiative.org/MONDO:0006238 NANDO:1200251 http://nanbyodata.jp/ontology/NANDO_1200251 高安動脈炎 Takayasu arteritis MONDO:0006656 http://www.w3.org/2004/02/skos/core#closeMatch 大動脈炎 aortitis https://monarchinitiative.org/MONDO:0006656 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://www.w3.org/2004/02/skos/core#closeMatch 家族性アミロイドニューロパチー familial amyloid neuropathy https://monarchinitiative.org/MONDO:0007100 NANDO:1200365 http://nanbyodata.jp/ontology/NANDO_1200365 遺伝性血管性浮腫 Hereditary angioedema MONDO:0007361 http://www.w3.org/2004/02/skos/core#closeMatch C1抑制因子欠乏症 C1 inhibitor deficiency https://monarchinitiative.org/MONDO:0007361 NANDO:1200516 http://nanbyodata.jp/ontology/NANDO_1200516 DYT5aジストニア Dystonia 5a MONDO:0007495 http://www.w3.org/2004/02/skos/core#closeMatch ジストニア5 dystonia 5 https://monarchinitiative.org/MONDO:0007495 NANDO:1200524 http://nanbyodata.jp/ontology/NANDO_1200524 急性発症ジストニア・パーキンソニズム Rapid-onset dystonia-parkinsonism MONDO:0007496 http://www.w3.org/2004/02/skos/core#closeMatch ジストニア12 dystonia 12 https://monarchinitiative.org/MONDO:0007496 NANDO: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:0007691 http://www.w3.org/2004/02/skos/core#closeMatch ギラン・バレー症候群, 家族性 Guillain-Barre syndrome, familial https://monarchinitiative.org/MONDO:0007691 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 封入体筋炎 inclusion body myositis https://monarchinitiative.org/MONDO:0007827 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://www.w3.org/2004/02/skos/core#closeMatch 中隔視神経形成異常症 septooptic dysplasia https://monarchinitiative.org/MONDO:0008428 NANDO:1200339 http://nanbyodata.jp/ontology/NANDO_1200339 胸腺低形成 Thymus hypoplasia MONDO:0008564 http://www.w3.org/2004/02/skos/core#closeMatch ディジョージ症候群 DiGeorge syndrome https://monarchinitiative.org/MONDO:0008564 NANDO:1200688 http://nanbyodata.jp/ontology/NANDO_1200688 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0008564 http://www.w3.org/2004/02/skos/core#closeMatch ディジョージ症候群 DiGeorge syndrome https://monarchinitiative.org/MONDO:0008564 NANDO:1200339 http://nanbyodata.jp/ontology/NANDO_1200339 胸腺低形成 Thymus hypoplasia MONDO:0008644 http://www.w3.org/2004/02/skos/core#closeMatch 口蓋帆・心臓・顔症候群 velocardiofacial syndrome https://monarchinitiative.org/MONDO:0008644 NANDO:1200688 http://nanbyodata.jp/ontology/NANDO_1200688 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0008644 http://www.w3.org/2004/02/skos/core#closeMatch 口蓋帆・心臓・顔症候群 velocardiofacial syndrome https://monarchinitiative.org/MONDO:0008644 NANDO: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://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 https://monarchinitiative.org/MONDO:0008769 NANDO:1200138 http://nanbyodata.jp/ontology/NANDO_1200138 ポンペ病 Pompe disease MONDO:0009290 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病II glycogen storage disease II https://monarchinitiative.org/MONDO:0009290 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 抗糸球体基底膜抗体症 anti-glomerular basement membrane disease https://monarchinitiative.org/MONDO:0009303 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症6型 mucopolysaccharidosis type 6 https://monarchinitiative.org/MONDO:0009661 NANDO:1200110 http://nanbyodata.jp/ontology/NANDO_1200110 マロトー・ラミー症候群（軽症型） Maroteaux Lamy syndrome, slowly progressing form MONDO:0009661 http://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症6型 mucopolysaccharidosis type 6 https://monarchinitiative.org/MONDO:0009661 NANDO:1200215 http://nanbyodata.jp/ontology/NANDO_1200215 ウルリッヒ病 Ullrich disease MONDO:0009681 http://www.w3.org/2004/02/skos/core#closeMatch ウルリッヒ型先天性筋ジストロフィー1A Ullrich congenital muscular dystrophy 1A https://monarchinitiative.org/MONDO:0009681 NANDO:1200498 http://nanbyodata.jp/ontology/NANDO_1200498 トムゼン病 Thomsen disease MONDO:0009710 http://www.w3.org/2004/02/skos/core#closeMatch トムゼン・ベッカー病 Thomsen and Becker disease https://monarchinitiative.org/MONDO:0009710 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch シアリドーシス2型 sialidosis type 2 https://monarchinitiative.org/MONDO:0009738 NANDO: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://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 https://monarchinitiative.org/MONDO:0009744 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://www.w3.org/2004/02/skos/core#closeMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis https://monarchinitiative.org/MONDO:0009835 NANDO:1200198 http://nanbyodata.jp/ontology/NANDO_1200198 亜急性進行型硬化性全脳炎 Subacute progressive sclerosing panencephalitis MONDO:0009835 http://www.w3.org/2004/02/skos/core#closeMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis https://monarchinitiative.org/MONDO:0009835 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch フェニルケトン尿症 phenylketonuria https://monarchinitiative.org/MONDO:0009861 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://www.w3.org/2004/02/skos/core#closeMatch 剥離性間質性肺炎 desquamative interstitial pneumonia https://monarchinitiative.org/MONDO:0009887 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch シェーグレン症候群 Sjogren syndrome https://monarchinitiative.org/MONDO:0010030 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:1200085 http://nanbyodata.jp/ontology/NANDO_1200085 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://www.w3.org/2004/02/skos/core#closeMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:1200395 http://nanbyodata.jp/ontology/NANDO_1200395 甲状腺ホルモン不応症 Resistance to thyroid hormone MONDO:0010131 http://www.w3.org/2004/02/skos/core#closeMatch 甲状腺ホルモン不応症, 全身型, 常染色体潜性 thyroid hormone resistance, generalized, autosomal recessive https://monarchinitiative.org/MONDO:0010131 NANDO:1200623 http://nanbyodata.jp/ontology/NANDO_1200623 中性脂肪蓄積症 Neutral lipid storage disease with ichthyosis MONDO:0010155 http://www.w3.org/2004/02/skos/core#closeMatch ドルフマン・シャナリン症候群 Dorfman-Chanarin disease https://monarchinitiative.org/MONDO:0010155 NANDO:1200403 http://nanbyodata.jp/ontology/NANDO_1200403 先天性副腎低形成症 Congenital adrenal hypoplasia MONDO:0010264 http://www.w3.org/2004/02/skos/core#closeMatch X連鎖性先天性副腎低形成症 X-linked adrenal hypoplasia congenita https://monarchinitiative.org/MONDO:0010264 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 脆弱X関連振戦運動失調症候群 fragile X-associated tremor/ataxia syndrome https://monarchinitiative.org/MONDO:0010382 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch X連鎖顕性低リン血症性くる病 X-linked dominant hypophosphatemic rickets https://monarchinitiative.org/MONDO:0010619 NANDO:1200604 http://nanbyodata.jp/ontology/NANDO_1200604 典型的レット症候群 Typical Rett syndrome MONDO:0010726 http://www.w3.org/2004/02/skos/core#closeMatch レット症候群 Rett syndrome https://monarchinitiative.org/MONDO:0010726 NANDO:1200779 http://nanbyodata.jp/ontology/NANDO_1200779 ビタミンD抵抗性くる病 Vitamin D-resistant rickets MONDO:0010931 http://www.w3.org/2004/02/skos/core#closeMatch ビタミンD依存性くる病, 2B型 vitamin D-dependent rickets, type 2B https://monarchinitiative.org/MONDO:0010931 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch NBIA４ aceruloplasminemia https://monarchinitiative.org/MONDO:0011426 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://www.w3.org/2004/02/skos/core#closeMatch GLUT1欠損による脳症 encephalopathy due to GLUT1 deficiency https://monarchinitiative.org/MONDO:0011724 NANDO:1200748 http://nanbyodata.jp/ontology/NANDO_1200748 特発性肺胞蛋白症 Idiopathic pulmonary alveolar proteinosis MONDO:0012579 http://www.w3.org/2004/02/skos/core#closeMatch 自己免疫性肺胞蛋白症 autoimmune pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0012579 NANDO:1200746 http://nanbyodata.jp/ontology/NANDO_1200746 肺胞蛋白症 Pulmonary alveolar proteinosis MONDO:0012580 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性肺胞蛋白症 hereditary pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0012580 NANDO:1200541 http://nanbyodata.jp/ontology/NANDO_1200541 FAHN Fatty acid hydroxylase-associated neurodegeneration MONDO:0012866 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性痙性対麻痺35 hereditary spastic paraplegia 35 https://monarchinitiative.org/MONDO:0012866 NANDO:1200301 http://nanbyodata.jp/ontology/NANDO_1200301 MDSとの境界型 Borderline between aplastic anemia and MDS 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 https://monarchinitiative.org/MONDO:0013851 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:0014945 http://www.w3.org/2004/02/skos/core#closeMatch ミオパチー, 遠位型, 縁取り空胞を伴う myopathy, distal, with rimmed vacuoles https://monarchinitiative.org/MONDO:0014945 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://www.w3.org/2004/02/skos/core#closeMatch 中性脂肪蓄積症 neutral lipid storage disease https://monarchinitiative.org/MONDO:0015611 NANDO:1200301 http://nanbyodata.jp/ontology/NANDO_1200301 MDSとの境界型 Borderline between aplastic anemia and MDS MONDO:0015909 http://www.w3.org/2004/02/skos/core#closeMatch 再生不良性貧血 aplastic anemia https://monarchinitiative.org/MONDO:0015909 NANDO: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://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 https://monarchinitiative.org/MONDO:0016002 NANDO:1200001 http://nanbyodata.jp/ontology/NANDO_1200001 球脊髄性筋萎縮症 Spinal and bulbar muscular atrophy MONDO:0016113 http://www.w3.org/2004/02/skos/core#closeMatch 球脊髄性筋萎縮症 bulbospinal muscular atrophy https://monarchinitiative.org/MONDO:0016113 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 非典型溶血性尿毒症症候群 atypical hemolytic-uremic syndrome https://monarchinitiative.org/MONDO:0016244 NANDO:1200442 http://nanbyodata.jp/ontology/NANDO_1200442 自己免疫性肝炎（典型例） Typical autoimmune hepatitis MONDO:0016264 http://www.w3.org/2004/02/skos/core#closeMatch 自己免疫性肝炎 autoimmune hepatitis https://monarchinitiative.org/MONDO:0016264 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 修正大血管転位症 congenitally corrected transposition of the great arteries https://monarchinitiative.org/MONDO:0016301 NANDO:1200701 http://nanbyodata.jp/ontology/NANDO_1200701 完全大血管転位症II型 Complete transposition of the great arteries (Group2) 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 https://monarchinitiative.org/MONDO:0016303 NANDO:1200509 http://nanbyodata.jp/ontology/NANDO_1200509 脊髄髄膜瘤 Myelomeningocele MONDO:0017069 http://www.w3.org/2004/02/skos/core#closeMatch 脊髄髄膜瘤 spina bifida cystica https://monarchinitiative.org/MONDO:0017069 NANDO:1200723 http://nanbyodata.jp/ontology/NANDO_1200723 半月体形成性糸球体腎炎 Crescentic glomerulonephritis MONDO:0017236 http://www.w3.org/2004/02/skos/core#closeMatch 急速進行性糸球体腎炎 rapidly progressive glomerulonephritis https://monarchinitiative.org/MONDO:0017236 NANDO:1200507 http://nanbyodata.jp/ontology/NANDO_1200507 症候性脊髄空洞症 Symptomatic syringomyelia MONDO:0017987 http://www.w3.org/2004/02/skos/core#closeMatch 脊髄空洞症 syringomyelia https://monarchinitiative.org/MONDO:0017987 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://www.w3.org/2004/02/skos/core#closeMatch 脳内鉄沈着神経変性症 neurodegeneration with brain iron accumulation https://monarchinitiative.org/MONDO:0018307 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://www.w3.org/2004/02/skos/core#closeMatch 脳内鉄沈着神経変性症 neurodegeneration with brain iron accumulation https://monarchinitiative.org/MONDO:0018307 NANDO:1200162 http://nanbyodata.jp/ontology/NANDO_1200162 腎型シスチン症 Nephropathic cystinosis MONDO:0018467 http://www.w3.org/2004/02/skos/core#closeMatch 乳児腎性シスチン症 nephropathic infantile cystinosis https://monarchinitiative.org/MONDO:0018467 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://www.w3.org/2004/02/skos/core#closeMatch 先天性副腎皮質酵素欠損症 congenital adrenal hyperplasia https://monarchinitiative.org/MONDO:0018479 NANDO:1200428 http://nanbyodata.jp/ontology/NANDO_1200428 肺毛細血管腫症 Pulmonary capillary hemangiomatosis MONDO:0018554 http://www.w3.org/2004/02/skos/core#closeMatch 肺静脈閉塞症/肺毛細血管腫症 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis https://monarchinitiative.org/MONDO:0018554 NANDO:1200440 http://nanbyodata.jp/ontology/NANDO_1200440 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0018646 http://www.w3.org/2004/02/skos/core#closeMatch 硬化性胆管炎 sclerosing cholangitis https://monarchinitiative.org/MONDO:0018646 NANDO:1200675 http://nanbyodata.jp/ontology/NANDO_1200675 鰓耳腎症候群 Branchio-oto-renal syndrome MONDO:0018878 http://www.w3.org/2004/02/skos/core#closeMatch 鰓耳症候群 branchiootic syndrome https://monarchinitiative.org/MONDO:0018878 NANDO:1200641 http://nanbyodata.jp/ontology/NANDO_1200641 非症候型眼皮膚白皮症 Non-syndromic oculocutaneous albinism MONDO:0018910 http://www.w3.org/2004/02/skos/core#closeMatch 眼皮膚白皮症 oculocutaneous albinism https://monarchinitiative.org/MONDO:0018910 NANDO:1200339 http://nanbyodata.jp/ontology/NANDO_1200339 胸腺低形成 Thymus hypoplasia MONDO:0018923 http://www.w3.org/2004/02/skos/core#closeMatch 22q11.2欠失症候群 22q11.2 deletion syndrome https://monarchinitiative.org/MONDO:0018923 NANDO:1200481 http://nanbyodata.jp/ontology/NANDO_1200481 ミオチュブラーミオパチー Myotubular myopathy MONDO:0018947 http://www.w3.org/2004/02/skos/core#closeMatch 中心核ミオパチー centronuclear myopathy https://monarchinitiative.org/MONDO:0018947 NANDO:1200225 http://nanbyodata.jp/ontology/NANDO_1200225 神経線維腫症 Neurofibromatosis MONDO:0018975 http://www.w3.org/2004/02/skos/core#closeMatch 神経線維腫症1型 neurofibromatosis type 1 https://monarchinitiative.org/MONDO:0018975 NANDO:1200632 http://nanbyodata.jp/ontology/NANDO_1200632 類天疱瘡 Pemphigoid (including Epidermolysis bullosa acquisita) MONDO:0019082 http://www.w3.org/2004/02/skos/core#closeMatch 類天疱瘡 bullous pemphigoid https://monarchinitiative.org/MONDO:0019082 NANDO:1200142 http://nanbyodata.jp/ontology/NANDO_1200142 酸性リパーゼ欠損症 Acid lipase deficiency MONDO:0019148 http://www.w3.org/2004/02/skos/core#closeMatch 酸性リパーゼ欠損症 Wolman disease https://monarchinitiative.org/MONDO:0019148 NANDO:1200617 http://nanbyodata.jp/ontology/NANDO_1200617 葉状魚鱗癬 Lamellar ichthyosis MONDO:0019306 http://www.w3.org/2004/02/skos/core#closeMatch 先天性魚鱗癬様紅皮症 congenital non-bullous ichthyosiform erythroderma https://monarchinitiative.org/MONDO:0019306 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 後天性血栓性血小板減少性紫斑病 acquired thrombotic thrombocytopenic purpura https://monarchinitiative.org/MONDO:0019740 NANDO:1200219 http://nanbyodata.jp/ontology/NANDO_1200219 眼咽頭遠位型ミオパチー Oculopharyngodistal myopathy MONDO:0020793 http://www.w3.org/2004/02/skos/core#closeMatch 眼咽頭遠位型ミオパチー1 oculopharyngodistal myopathy 1 https://monarchinitiative.org/MONDO:0020793 NANDO:1200226 http://nanbyodata.jp/ontology/NANDO_1200226 神経線維腫症I型 Neurofibromatosis type 1 MONDO:0021061 http://www.w3.org/2004/02/skos/core#closeMatch 神経線維腫症 neurofibromatosis https://monarchinitiative.org/MONDO:0021061 NANDO:1200227 http://nanbyodata.jp/ontology/NANDO_1200227 神経線維腫症II型 Neurofibromatosis type 2 MONDO:0021061 http://www.w3.org/2004/02/skos/core#closeMatch 神経線維腫症 neurofibromatosis https://monarchinitiative.org/MONDO:0021061 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:0022424 http://www.w3.org/2004/02/skos/core#closeMatch α-マンノシドーシス1型 alpha-mannosidosis type 1 https://monarchinitiative.org/MONDO:0022424 NANDO:1200778 http://nanbyodata.jp/ontology/NANDO_1200778 ビタミンD抵抗性くる病/骨軟化症 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia MONDO:0024300 http://www.w3.org/2004/02/skos/core#closeMatch 低リン血症性くる病 hypophosphatemic rickets https://monarchinitiative.org/MONDO:0024300 NANDO:1200780 http://nanbyodata.jp/ontology/NANDO_1200780 ビタミンD抵抗性骨軟化症 Vitamin D-resistant osteomalacia MONDO:0024300 http://www.w3.org/2004/02/skos/core#closeMatch 低リン血症性くる病 hypophosphatemic rickets https://monarchinitiative.org/MONDO:0024300 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:0100025 http://www.w3.org/2004/02/skos/core#closeMatch 遊走性焦点発作を伴う乳児てんかん epilepsy of infancy with migrating focal seizures https://monarchinitiative.org/MONDO:0100025 NANDO:1200180 http://nanbyodata.jp/ontology/NANDO_1200180 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100224 http://www.w3.org/2004/02/skos/core#closeMatch ミトコンドリア複合体I欠損症, 核型1 mitochondrial complex I deficiency, nuclear type 1 https://monarchinitiative.org/MONDO:0100224 NANDO:2200008 http://nanbyodata.jp/ontology/NANDO_2200008 急性骨髄単球性白血病 Acute monocytic leukemia MONDO:0000875 http://www.w3.org/2004/02/skos/core#closeMatch 成人急性単球性白血病 adult acute monocytic leukemia https://monarchinitiative.org/MONDO:0000875 NANDO:2200009 http://nanbyodata.jp/ontology/NANDO_2200009 急性単球性白血病 Acute monocytic leukemia MONDO:0000875 http://www.w3.org/2004/02/skos/core#closeMatch 成人急性単球性白血病 adult acute monocytic leukemia https://monarchinitiative.org/MONDO:0000875 NANDO:2200141 http://nanbyodata.jp/ontology/NANDO_2200141 腎血管性高血圧 Renovascular hypertension MONDO:0001105 http://www.w3.org/2004/02/skos/core#closeMatch 腎性高血圧 renal hypertension https://monarchinitiative.org/MONDO:0001105 NANDO:1200838 http://nanbyodata.jp/ontology/NANDO_1200838 肝型糖原病 Hepatic glycogen storage disease MONDO:0002412 http://www.w3.org/2004/02/skos/core#closeMatch 糖原質代謝障害 disorder of glycogen metabolism https://monarchinitiative.org/MONDO:0002412 NANDO:1200840 http://nanbyodata.jp/ontology/NANDO_1200840 肝型糖原病Ia型 Hepatic glycogen storage disease type Ia MONDO:0002413 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病I glycogen storage disease I https://monarchinitiative.org/MONDO:0002413 NANDO:2200089 http://nanbyodata.jp/ontology/NANDO_2200089 乏突起神経膠腫 Oligodendroglioma MONDO:0002540 http://www.w3.org/2004/02/skos/core#closeMatch 小児乏突起膠腫 childhood oligodendroglioma https://monarchinitiative.org/MONDO:0002540 NANDO:2200089 http://nanbyodata.jp/ontology/NANDO_2200089 乏突起神経膠腫 Oligodendroglioma MONDO:0002543 http://www.w3.org/2004/02/skos/core#closeMatch 成人乏突起膠腫 adult oligodendroglioma https://monarchinitiative.org/MONDO:0002543 NANDO:2200048 http://nanbyodata.jp/ontology/NANDO_2200048 骨肉腫 Osteosarcoma MONDO:0002623 http://www.w3.org/2004/02/skos/core#closeMatch 小児骨肉腫 pediatric osteosarcoma https://monarchinitiative.org/MONDO:0002623 NANDO:2200060 http://nanbyodata.jp/ontology/NANDO_2200060 線維肉腫 Fibrosarcoma MONDO:0002676 http://www.w3.org/2004/02/skos/core#closeMatch 成人型線維肉腫 adult fibrosarcoma https://monarchinitiative.org/MONDO:0002676 NANDO:2200060 http://nanbyodata.jp/ontology/NANDO_2200060 線維肉腫 Fibrosarcoma MONDO:0002678 http://www.w3.org/2004/02/skos/core#closeMatch 小児型線維肉腫 pediatric fibrosarcoma https://monarchinitiative.org/MONDO:0002678 NANDO:2200090 http://nanbyodata.jp/ontology/NANDO_2200090 髄芽腫 Medulloblastoma MONDO:0002794 http://www.w3.org/2004/02/skos/core#closeMatch 成人髄芽腫 adult medulloblastoma https://monarchinitiative.org/MONDO:0002794 NANDO:2200090 http://nanbyodata.jp/ontology/NANDO_2200090 髄芽腫 Medulloblastoma MONDO:0002797 http://www.w3.org/2004/02/skos/core#closeMatch 小児髄芽腫 childhood medulloblastoma https://monarchinitiative.org/MONDO:0002797 NANDO:2200094 http://nanbyodata.jp/ontology/NANDO_2200094 髄膜腫 Meningioma MONDO:0003057 http://www.w3.org/2004/02/skos/core#closeMatch 小児髄膜腫 pediatric meningioma https://monarchinitiative.org/MONDO:0003057 NANDO:1200878 http://nanbyodata.jp/ontology/NANDO_1200878 リンパ管腫症/ゴーハム病 Lymphangiomatosis / Gorham-Stout disease MONDO:0003157 http://www.w3.org/2004/02/skos/core#closeMatch リンパ管腫症/ゴーハム病 disappearing bone disease https://monarchinitiative.org/MONDO:0003157 NANDO:2200065 http://nanbyodata.jp/ontology/NANDO_2200065 脂肪肉腫 Liposarcoma MONDO:0003585 http://www.w3.org/2004/02/skos/core#closeMatch 成人脂肪肉腫 adult liposarcoma https://monarchinitiative.org/MONDO:0003585 NANDO:2200065 http://nanbyodata.jp/ontology/NANDO_2200065 脂肪肉腫 Liposarcoma MONDO:0003587 http://www.w3.org/2004/02/skos/core#closeMatch 小児脂肪肉腫 pediatric liposarcoma https://monarchinitiative.org/MONDO:0003587 NANDO:2100004 http://nanbyodata.jp/ontology/NANDO_2100004 リンパ腫 Lymphoma MONDO:0003659 http://www.w3.org/2004/02/skos/core#closeMatch 小児リンパ腫 pediatric lymphoma https://monarchinitiative.org/MONDO:0003659 NANDO:2100004 http://nanbyodata.jp/ontology/NANDO_2100004 リンパ腫 Lymphoma MONDO:0003660 http://www.w3.org/2004/02/skos/core#closeMatch 成人リンパ腫 adult lymphoma https://monarchinitiative.org/MONDO:0003660 NANDO:2200069 http://nanbyodata.jp/ontology/NANDO_2200069 卵黄嚢腫 Yolk sac tumour MONDO:0003759 http://www.w3.org/2004/02/skos/core#closeMatch 小児卵巣卵黄嚢腫 childhood ovarian yolk sac tumor https://monarchinitiative.org/MONDO:0003759 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://www.w3.org/2004/02/skos/core#closeMatch 先天性免疫異常症 inborn error of immunity https://monarchinitiative.org/MONDO:0003778 NANDO:1200871 http://nanbyodata.jp/ontology/NANDO_1200871 進行性骨化性線維異形成症 Fibrodysplasia ossificans progressiva MONDO:0003964 http://www.w3.org/2004/02/skos/core#closeMatch 骨化性筋炎 myositis ossificans https://monarchinitiative.org/MONDO:0003964 NANDO:2200084 http://nanbyodata.jp/ontology/NANDO_2200084 毛様細胞性星細胞腫 Pilocytic astrocytoma MONDO:0004000 http://www.w3.org/2004/02/skos/core#closeMatch 小児若年性毛様細胞性星細胞腫 childhood pilocytic astrocytoma https://monarchinitiative.org/MONDO:0004000 NANDO:2100163 http://nanbyodata.jp/ontology/NANDO_2100163 ミトコンドリア病 Mitochondrial diseases MONDO:0004069 http://www.w3.org/2004/02/skos/core#closeMatch 先天性ミトコンドリア代謝障害 inborn mitochondrial metabolism disorder https://monarchinitiative.org/MONDO:0004069 NANDO:2100002 http://nanbyodata.jp/ontology/NANDO_2100002 白血病 Leukemia MONDO:0004355 http://www.w3.org/2004/02/skos/core#closeMatch 小児白血病 childhood leukemia https://monarchinitiative.org/MONDO:0004355 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:0004890 http://www.w3.org/2004/02/skos/core#closeMatch 部分中心性脈絡膜萎縮症 partial central choroid dystrophy https://monarchinitiative.org/MONDO:0004890 NANDO:2200049 http://nanbyodata.jp/ontology/NANDO_2200049 骨軟骨腫症 Osteochondromatosis MONDO:0005508 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性多発性骨軟骨腫 hereditary multiple osteochondromas https://monarchinitiative.org/MONDO:0005508 NANDO:2200045 http://nanbyodata.jp/ontology/NANDO_2200045 腎細胞癌 Renal cell carcinoma MONDO:0005549 http://www.w3.org/2004/02/skos/core#closeMatch 腎細胞腺癌 renal cell adenocarcinoma https://monarchinitiative.org/MONDO:0005549 NANDO:2200138 http://nanbyodata.jp/ontology/NANDO_2200138 アミロイド腎 Amyloid nephropathy MONDO:0007099 http://www.w3.org/2004/02/skos/core#closeMatch 家族性内蔵アミロイドーシス familial visceral amyloidosis https://monarchinitiative.org/MONDO:0007099 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 家族性アミロイドニューロパチー familial amyloid neuropathy https://monarchinitiative.org/MONDO:0007100 NANDO:1201102 http://nanbyodata.jp/ontology/NANDO_1201102 短体幹症 Brachyolmia, autosomal dominant type MONDO:0007232 http://www.w3.org/2004/02/skos/core#closeMatch 常染色体顕性短体幹症 autosomal dominant brachyolmia https://monarchinitiative.org/MONDO:0007232 NANDO:1200919 http://nanbyodata.jp/ontology/NANDO_1200919 アラジール症候群典型例 Typical Alagille syndrome MONDO:0007318 http://www.w3.org/2004/02/skos/core#closeMatch アラジール症候群 Alagille syndrome https://monarchinitiative.org/MONDO:0007318 NANDO:2200190 http://nanbyodata.jp/ontology/NANDO_2200190 喉頭狭窄 Laryngeal stenosis MONDO:0007879 http://www.w3.org/2004/02/skos/core#closeMatch 喉頭閉鎖症 larynx atresia https://monarchinitiative.org/MONDO:0007879 NANDO:2200008 http://nanbyodata.jp/ontology/NANDO_2200008 急性骨髄単球性白血病 Acute monocytic leukemia MONDO:0007896 http://www.w3.org/2004/02/skos/core#closeMatch 急性単球性白血病 acute monocytic leukemia https://monarchinitiative.org/MONDO:0007896 NANDO:2200049 http://nanbyodata.jp/ontology/NANDO_2200049 骨軟骨腫症 Osteochondromatosis MONDO:0008145 http://www.w3.org/2004/02/skos/core#closeMatch オリエ病 Ollier disease https://monarchinitiative.org/MONDO:0008145 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:0008319 http://www.w3.org/2004/02/skos/core#closeMatch プロトポルフィリン症, 骨髄性, 1 protoporphyria, erythropoietic, 1 https://monarchinitiative.org/MONDO:0008319 NANDO:1201021 http://nanbyodata.jp/ontology/NANDO_1201021 膵囊胞線維症 Pancreatic cystic fibrosis MONDO:0009061 http://www.w3.org/2004/02/skos/core#closeMatch 嚢胞性線維症 cystic fibrosis https://monarchinitiative.org/MONDO:0009061 NANDO:1200844 http://nanbyodata.jp/ontology/NANDO_1200844 肝型糖原病IIIc型 Hepatic glycogen storage disease type IIIc MONDO:0009291 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病III glycogen storage disease III https://monarchinitiative.org/MONDO:0009291 NANDO:1201019 http://nanbyodata.jp/ontology/NANDO_1201019 肝型糖原病III型 Hepatic glycogen storage disease type III MONDO:0009291 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病III glycogen storage disease III https://monarchinitiative.org/MONDO:0009291 NANDO:1200850 http://nanbyodata.jp/ontology/NANDO_1200850 肝型糖原病IV型 Hepatic glycogen storage disease type IV MONDO:0009292 http://www.w3.org/2004/02/skos/core#closeMatch グリコーゲン分枝酵素欠損による糖原病 glycogen storage disease due to glycogen branching enzyme deficiency https://monarchinitiative.org/MONDO:0009292 NANDO:1200823 http://nanbyodata.jp/ontology/NANDO_1200823 筋型糖原病 Muscle glycogen storage disease MONDO:0009295 http://www.w3.org/2004/02/skos/core#closeMatch 糖原病VII glycogen storage disease VII https://monarchinitiative.org/MONDO:0009295 NANDO:2200214 http://nanbyodata.jp/ontology/NANDO_2200214 完全房室ブロック Complete atrio-ventricular block MONDO:0009326 http://www.w3.org/2004/02/skos/core#closeMatch 先天性心ブロック congenital heart block https://monarchinitiative.org/MONDO:0009326 NANDO:1200838 http://nanbyodata.jp/ontology/NANDO_1200838 肝型糖原病 Hepatic glycogen storage disease MONDO:0009414 http://www.w3.org/2004/02/skos/core#closeMatch 肝グリコーゲン合成酵素欠損による糖原病 glycogen storage disorder due to hepatic glycogen synthase deficiency https://monarchinitiative.org/MONDO:0009414 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch レシチンコレステロールアシルトランスフェラーゼ欠損症 Norum disease https://monarchinitiative.org/MONDO:0009515 NANDO:1201036 http://nanbyodata.jp/ontology/NANDO_1201036 ネフロン癆 Nephronophthisis MONDO:0009728 http://www.w3.org/2004/02/skos/core#closeMatch ネフロン癆1 nephronophthisis 1 https://monarchinitiative.org/MONDO:0009728 NANDO:2200140 http://nanbyodata.jp/ontology/NANDO_2200140 ネフロン癆 Nephronophthisis MONDO:0009728 http://www.w3.org/2004/02/skos/core#closeMatch ネフロン癆1 nephronophthisis 1 https://monarchinitiative.org/MONDO:0009728 NANDO:1200910 http://nanbyodata.jp/ontology/NANDO_1200910 総排泄腔遺残 Persistent cloaca MONDO:0009774 http://www.w3.org/2004/02/skos/core#closeMatch 総排泄腔外反症 cloacal exstrophy https://monarchinitiative.org/MONDO:0009774 NANDO:1200866 http://nanbyodata.jp/ontology/NANDO_1200866 高IgD症候群 Hyper IgD syndrome MONDO:0009849 http://www.w3.org/2004/02/skos/core#closeMatch 周期熱を伴う高ガンマグロブリン血症D hyperimmunoglobulinemia D with periodic fever https://monarchinitiative.org/MONDO:0009849 NANDO:1201095 http://nanbyodata.jp/ontology/NANDO_1201095 MECP2重複症候群 MECP2 Duplication Syndrome MONDO:0010283 http://www.w3.org/2004/02/skos/core#closeMatch 症候性X連鎖性知的障害Lubs型 syndromic X-linked intellectual disability Lubs type https://monarchinitiative.org/MONDO:0010283 NANDO: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:0011326 http://www.w3.org/2004/02/skos/core#closeMatch シトルリン血症, II型, 成人発症 citrullinemia, type II, adult-onset https://monarchinitiative.org/MONDO:0011326 NANDO:1200962 http://nanbyodata.jp/ontology/NANDO_1200962 先天性三尖弁狭窄症 Congenital tricuspid stenosis MONDO:0011514 http://www.w3.org/2004/02/skos/core#closeMatch 三尖弁閉鎖症 tricuspid atresia https://monarchinitiative.org/MONDO:0011514 NANDO:2200014 http://nanbyodata.jp/ontology/NANDO_2200014 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0011908 http://www.w3.org/2004/02/skos/core#closeMatch 若年性骨髄単球性白血病 juvenile myelomonocytic leukemia https://monarchinitiative.org/MONDO:0011908 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 多発血管炎性肉芽腫症 granulomatosis with polyangiitis https://monarchinitiative.org/MONDO:0012105 NANDO:1200866 http://nanbyodata.jp/ontology/NANDO_1200866 高IgD症候群 Hyper IgD syndrome MONDO:0012481 http://www.w3.org/2004/02/skos/core#closeMatch メバロン酸尿症 mevalonic aciduria https://monarchinitiative.org/MONDO:0012481 NANDO:2200074 http://nanbyodata.jp/ontology/NANDO_2200074 甲状腺癌 Thyroid cancer MONDO:0015075 http://www.w3.org/2004/02/skos/core#closeMatch 甲状腺癌 thyroid gland carcinoma https://monarchinitiative.org/MONDO:0015075 NANDO:1201068 http://nanbyodata.jp/ontology/NANDO_1201068 無脳回 Agyria MONDO:0015146 http://www.w3.org/2004/02/skos/core#closeMatch 古典型滑脳症 classic lissencephaly https://monarchinitiative.org/MONDO:0015146 NANDO:1201069 http://nanbyodata.jp/ontology/NANDO_1201069 厚脳回 Pachygyria MONDO:0015146 http://www.w3.org/2004/02/skos/core#closeMatch 古典型滑脳症 classic lissencephaly https://monarchinitiative.org/MONDO:0015146 NANDO:2200190 http://nanbyodata.jp/ontology/NANDO_2200190 喉頭狭窄 Laryngeal stenosis MONDO:0015395 http://www.w3.org/2004/02/skos/core#closeMatch 先天性声門下狭窄症 congenital subglottic stenosis https://monarchinitiative.org/MONDO:0015395 NANDO:1201097 http://nanbyodata.jp/ontology/NANDO_1201097 カルタゲナー症候群 Kartagener syndrome MONDO:0016575 http://www.w3.org/2004/02/skos/core#closeMatch 原発性線毛機能不全症 primary ciliary dyskinesia https://monarchinitiative.org/MONDO:0016575 NANDO:2200204 http://nanbyodata.jp/ontology/NANDO_2200204 カルタゲナー症候群 Kartagener syndrome MONDO:0016575 http://www.w3.org/2004/02/skos/core#closeMatch 原発性線毛機能不全症 primary ciliary dyskinesia https://monarchinitiative.org/MONDO:0016575 NANDO:2200031 http://nanbyodata.jp/ontology/NANDO_2200031 ランゲルハンス細胞組織球症 Langerhans cell histiocytosis MONDO:0017025 http://www.w3.org/2004/02/skos/core#closeMatch 小児期特有のランゲルハンス細胞組織球症 Langerhans cell histiocytosis specific to childhood https://monarchinitiative.org/MONDO:0017025 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:0017029 http://www.w3.org/2004/02/skos/core#closeMatch 成人期特有のランゲルハンス細胞組織球症 Langerhans cell histiocytosis specific to adulthood https://monarchinitiative.org/MONDO:0017029 NANDO:1200924 http://nanbyodata.jp/ontology/NANDO_1200924 IgG4関連疾患包括 IgG4-related disease MONDO:0017287 http://www.w3.org/2004/02/skos/core#closeMatch IgG4関連硬化性疾患 immunoglobulin G4-related sclerosing disease https://monarchinitiative.org/MONDO:0017287 NANDO:2200216 http://nanbyodata.jp/ontology/NANDO_2200216 多源性心室期外収縮 Polymorphic ventricular premature beat 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 https://monarchinitiative.org/MONDO:0017990 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://www.w3.org/2004/02/skos/core#closeMatch ＴＲＰＶ４関連骨障害 TRPV4-related bone disorder https://monarchinitiative.org/MONDO:0018240 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://www.w3.org/2004/02/skos/core#closeMatch 未分化神経外胚葉性腫瘍（末梢性のものに限る。） peripheral primitive neuroectodermal tumor https://monarchinitiative.org/MONDO:0018271 NANDO:2200123 http://nanbyodata.jp/ontology/NANDO_2200123 膜性増殖性糸球体腎炎 Membranoproliferative glomerulonephritis MONDO:0018904 http://www.w3.org/2004/02/skos/core#closeMatch 一次性膜性増殖性糸球体腎炎 primary membranoproliferative glomerulonephritis https://monarchinitiative.org/MONDO:0018904 NANDO:2200170 http://nanbyodata.jp/ontology/NANDO_2200170 髄質嚢胞腎 Medullary cystic kidney MONDO:0019005 http://www.w3.org/2004/02/skos/core#closeMatch ネフロン癆 nephronophthisis https://monarchinitiative.org/MONDO:0019005 NANDO:2200138 http://nanbyodata.jp/ontology/NANDO_2200138 アミロイド腎 Amyloid nephropathy MONDO:0019065 http://www.w3.org/2004/02/skos/core#closeMatch アミロイドーシス amyloidosis https://monarchinitiative.org/MONDO:0019065 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 常染色体性骨髄性プロトポルフィリン症 autosomal erythropoietic protoporphyria https://monarchinitiative.org/MONDO:0019263 NANDO:1200881 http://nanbyodata.jp/ontology/NANDO_1200881 巨大リンパ管奇形（頚部顔面病変） Giant lymphatic malformation (cervicofacial lesion) MONDO:0019328 http://www.w3.org/2004/02/skos/core#closeMatch マクロシスティック型リンパ管奇形 macrocystic lymphatic malformation https://monarchinitiative.org/MONDO:0019328 NANDO:2200017 http://nanbyodata.jp/ontology/NANDO_2200017 急性未分化型白血病 Acute undifferentiated leukemia MONDO:0019460 http://www.w3.org/2004/02/skos/core#closeMatch 急性未分化型白血病 acute leukemia of ambiguous lineage https://monarchinitiative.org/MONDO:0019460 NANDO:2200018 http://nanbyodata.jp/ontology/NANDO_2200018 混合型急性白血病 Mixed phenotype acute leukemia MONDO:0019460 http://www.w3.org/2004/02/skos/core#closeMatch 急性未分化型白血病 acute leukemia of ambiguous lineage https://monarchinitiative.org/MONDO:0019460 NANDO: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:0019563 http://www.w3.org/2004/02/skos/core#closeMatch 限局皮膚硬化型全身性強皮症 CREST syndrome https://monarchinitiative.org/MONDO:0019563 NANDO:1200962 http://nanbyodata.jp/ontology/NANDO_1200962 先天性三尖弁狭窄症 Congenital tricuspid stenosis MONDO:0019813 http://www.w3.org/2004/02/skos/core#closeMatch 先天性三尖弁狭窄症 congenital tricuspid stenosis https://monarchinitiative.org/MONDO:0019813 NANDO: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://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 https://monarchinitiative.org/MONDO:0020511 NANDO:2200087 http://nanbyodata.jp/ontology/NANDO_2200087 膠芽腫 Glioblastoma MONDO:0020690 http://www.w3.org/2004/02/skos/core#closeMatch 膠芽腫 adult glioblastoma https://monarchinitiative.org/MONDO:0020690 NANDO:1201068 http://nanbyodata.jp/ontology/NANDO_1201068 無脳回 Agyria MONDO:0022402 http://www.w3.org/2004/02/skos/core#closeMatch 無脳回-厚脳回1型 agyria-pachygyria type 1 https://monarchinitiative.org/MONDO:0022402 NANDO:1201069 http://nanbyodata.jp/ontology/NANDO_1201069 厚脳回 Pachygyria MONDO:0022402 http://www.w3.org/2004/02/skos/core#closeMatch 無脳回-厚脳回1型 agyria-pachygyria type 1 https://monarchinitiative.org/MONDO:0022402 NANDO:1200841 http://nanbyodata.jp/ontology/NANDO_1200841 肝型糖原病Ib型 Hepatic glycogen storage disease type Ib MONDO:0023258 http://www.w3.org/2004/02/skos/core#closeMatch SLC37A4変異による糖原病1型 glycogen storage disease type 1 due to SLC37A4 mutation https://monarchinitiative.org/MONDO:0023258 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://www.w3.org/2004/02/skos/core#closeMatch ベスレムミオパチー2 Bethlem myopathy 2 https://monarchinitiative.org/MONDO:0034022 NANDO:2200019 http://nanbyodata.jp/ontology/NANDO_2200019 骨髄異形成症候群 Myelodysplastic syndrome MONDO:0044873 http://www.w3.org/2004/02/skos/core#closeMatch 小児骨髄異形成症候群 childhood myelodysplastic syndrome https://monarchinitiative.org/MONDO:0044873 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://www.w3.org/2004/02/skos/core#closeMatch エーラス・ダンロス症候群, 類古典型, 2 Ehlers-Danlos syndrome, classic-like, 2 https://monarchinitiative.org/MONDO:0054813 NANDO: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:0971044 http://www.w3.org/2004/02/skos/core#closeMatch エーラス・ダンロス症候群, 類古典型, 3 Ehlers-Danlos syndrome, classic-like, 3 https://monarchinitiative.org/MONDO:0971044 NANDO:2201168 http://nanbyodata.jp/ontology/NANDO_2201168 Hurler病 Hurler Disease MONDO:0001586 http://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症1型 mucopolysaccharidosis type 1 https://monarchinitiative.org/MONDO:0001586 NANDO:2200867 http://nanbyodata.jp/ontology/NANDO_2200867 ミオチュブラーミオパチー Myotubular myopathy MONDO:0002921 http://www.w3.org/2004/02/skos/core#closeMatch 先天性構造ミオパチー congenital structural myopathy https://monarchinitiative.org/MONDO:0002921 NANDO:2201020 http://nanbyodata.jp/ontology/NANDO_2201020 進行性骨化性線維異形成症 Fibrodysplasia ossificans progressiva MONDO:0003964 http://www.w3.org/2004/02/skos/core#closeMatch 骨化性筋炎 myositis ossificans https://monarchinitiative.org/MONDO:0003964 NANDO:2201042 http://nanbyodata.jp/ontology/NANDO_2201042 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy MONDO:0005045 http://www.w3.org/2004/02/skos/core#closeMatch 肥大型心筋症 hypertrophic cardiomyopathy https://monarchinitiative.org/MONDO:0005045 NANDO:2200218 http://nanbyodata.jp/ontology/NANDO_2200218 多源性心房頻拍 Multiple atrial tachycardia MONDO:0005310 http://www.w3.org/2004/02/skos/core#closeMatch 心房粗動 atrial flutter https://monarchinitiative.org/MONDO:0005310 NANDO:2200396 http://nanbyodata.jp/ontology/NANDO_2200396 カルチノイド症候群 Carcinoid syndrome MONDO:0005369 http://www.w3.org/2004/02/skos/core#closeMatch カルチノイド腫瘍 carcinoid tumor https://monarchinitiative.org/MONDO:0005369 NANDO:2200218 http://nanbyodata.jp/ontology/NANDO_2200218 多源性心房頻拍 Multiple atrial tachycardia MONDO:0005479 http://www.w3.org/2004/02/skos/core#closeMatch 心房性頻拍 atrial tachycardia https://monarchinitiative.org/MONDO:0005479 NANDO:2201014 http://nanbyodata.jp/ontology/NANDO_2201014 多発性軟骨性外骨腫症 Multiple cartilaginous exostosis MONDO:0005508 http://www.w3.org/2004/02/skos/core#closeMatch 遺伝性多発性骨軟骨腫 hereditary multiple osteochondromas https://monarchinitiative.org/MONDO:0005508 NANDO:2200976 http://nanbyodata.jp/ontology/NANDO_2200976 ファイファー症候群 Pfeiffer syndrome MONDO:0005810 http://www.w3.org/2004/02/skos/core#closeMatch 伝染性単核症 infectious mononucleosis https://monarchinitiative.org/MONDO:0005810 NANDO:2200423 http://nanbyodata.jp/ontology/NANDO_2200423 高安動脈炎 Takayasu arteritis MONDO:0006656 http://www.w3.org/2004/02/skos/core#closeMatch 大動脈炎 aortitis https://monarchinitiative.org/MONDO:0006656 NANDO:2200284 http://nanbyodata.jp/ontology/NANDO_2200284 大動脈縮窄複合 Coarctation complex MONDO:0007345 http://www.w3.org/2004/02/skos/core#closeMatch 大動脈縮窄症 aorta coarctation https://monarchinitiative.org/MONDO:0007345 NANDO:2200795 http://nanbyodata.jp/ontology/NANDO_2200795 遺伝性血管性浮腫 Hereditary angioedema MONDO:0007361 http://www.w3.org/2004/02/skos/core#closeMatch C1抑制因子欠乏症 C1 inhibitor deficiency https://monarchinitiative.org/MONDO:0007361 NANDO:2200461 http://nanbyodata.jp/ontology/NANDO_2200461 2型糖尿病 Diabetes mellitus type 2 MONDO:0007452 http://www.w3.org/2004/02/skos/core#closeMatch 若年発症成人型糖尿病1型 maturity-onset diabetes of the young type 1 https://monarchinitiative.org/MONDO:0007452 NANDO: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:0007691 http://www.w3.org/2004/02/skos/core#closeMatch ギラン・バレー症候群, 家族性 Guillain-Barre syndrome, familial https://monarchinitiative.org/MONDO:0007691 NANDO:2200602 http://nanbyodata.jp/ontology/NANDO_2200602 家族性高コレステロール血症 Familial hypercholesterolemia MONDO:0007750 http://www.w3.org/2004/02/skos/core#closeMatch 高コレステロール血症, 家族性, 1 hypercholesterolemia, familial, 1 https://monarchinitiative.org/MONDO:0007750 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 多発性内分泌腫瘍2A型 multiple endocrine neoplasia type 2A https://monarchinitiative.org/MONDO:0008234 NANDO:2201266 http://nanbyodata.jp/ontology/NANDO_2201266 赤芽球性プロトポルフィリン症 Erythropoietic protoporphyria MONDO:0008319 http://www.w3.org/2004/02/skos/core#closeMatch プロトポルフィリン症, 骨髄性, 1 protoporphyria, erythropoietic, 1 https://monarchinitiative.org/MONDO:0008319 NANDO:2200712 http://nanbyodata.jp/ontology/NANDO_2200712 胸腺低形成 Thymus hypoplasia MONDO:0008564 http://www.w3.org/2004/02/skos/core#closeMatch ディジョージ症候群 DiGeorge syndrome https://monarchinitiative.org/MONDO:0008564 NANDO:2200712 http://nanbyodata.jp/ontology/NANDO_2200712 胸腺低形成 Thymus hypoplasia MONDO:0008644 http://www.w3.org/2004/02/skos/core#closeMatch 口蓋帆・心臓・顔症候群 velocardiofacial syndrome https://monarchinitiative.org/MONDO:0008644 NANDO:2201345 http://nanbyodata.jp/ontology/NANDO_2201345 軟骨無発生症2型 Achondrogenesis type 2 MONDO:0008703 http://www.w3.org/2004/02/skos/core#closeMatch 遠位中間肢異形成症2A acromesomelic dysplasia 2A https://monarchinitiative.org/MONDO:0008703 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 極長鎖アシルCoA脱水素酵素欠損症 very long chain acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008723 NANDO:2200948 http://nanbyodata.jp/ontology/NANDO_2200948 腸管神経節細胞僅少症 Congenital Isolated Hypoganglionosis MONDO:0008738 http://www.w3.org/2004/02/skos/core#closeMatch 神経節細胞欠損症, 全腸管 aganglionosis, total intestinal https://monarchinitiative.org/MONDO:0008738 NANDO: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://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 https://monarchinitiative.org/MONDO:0008769 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://www.w3.org/2004/02/skos/core#closeMatch Nアセチルグルタミン酸合成酵素欠損による高アンモニア血症 hyperammonemia due to N-acetylglutamate synthase deficiency https://monarchinitiative.org/MONDO:0009377 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 自己免疫性多内分泌腺症候群1型 autoimmune polyendocrine syndrome type 1 https://monarchinitiative.org/MONDO:0009411 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 自己免疫性多内分泌腺症候群1型 autoimmune polyendocrine syndrome type 1 https://monarchinitiative.org/MONDO:0009411 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 肝グリコーゲン合成酵素欠損による糖原病 glycogen storage disorder due to hepatic glycogen synthase deficiency https://monarchinitiative.org/MONDO:0009414 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 3-ヒドロキシ-3-メチルグルタル酸尿症 3-hydroxy-3-methylglutaric aciduria https://monarchinitiative.org/MONDO:0009520 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch シアリドーシス2型 sialidosis type 2 https://monarchinitiative.org/MONDO:0009738 NANDO: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://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 https://monarchinitiative.org/MONDO:0009744 NANDO:2200950 http://nanbyodata.jp/ontology/NANDO_2200950 総排泄腔遺残 Persistent cloaca MONDO:0009774 http://www.w3.org/2004/02/skos/core#closeMatch 総排泄腔外反症 cloacal exstrophy https://monarchinitiative.org/MONDO:0009774 NANDO:2200484 http://nanbyodata.jp/ontology/NANDO_2200484 高オルニチン血症 Hyperornithinemia MONDO:0009796 http://www.w3.org/2004/02/skos/core#closeMatch オルニチンアミノトランスフェラーゼ欠損症 ornithine aminotransferase deficiency https://monarchinitiative.org/MONDO:0009796 NANDO:2200486 http://nanbyodata.jp/ontology/NANDO_2200486 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://www.w3.org/2004/02/skos/core#closeMatch オルニチンアミノトランスフェラーゼ欠損症 ornithine aminotransferase deficiency https://monarchinitiative.org/MONDO:0009796 NANDO:2200436 http://nanbyodata.jp/ontology/NANDO_2200436 高IgD症候群 Hyper IgD syndrome MONDO:0009849 http://www.w3.org/2004/02/skos/core#closeMatch 周期熱を伴う高ガンマグロブリン血症D hyperimmunoglobulinemia D with periodic fever https://monarchinitiative.org/MONDO:0009849 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch フェニルケトン尿症 phenylketonuria https://monarchinitiative.org/MONDO:0009861 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://www.w3.org/2004/02/skos/core#closeMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:2201228 http://nanbyodata.jp/ontology/NANDO_2201228 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://www.w3.org/2004/02/skos/core#closeMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:2200341 http://nanbyodata.jp/ontology/NANDO_2200341 甲状腺ホルモン不応症 Resistance to thyroid hormone MONDO:0010131 http://www.w3.org/2004/02/skos/core#closeMatch 甲状腺ホルモン不応症, 全身型, 常染色体潜性 thyroid hormone resistance, generalized, autosomal recessive https://monarchinitiative.org/MONDO:0010131 NANDO:2200357 http://nanbyodata.jp/ontology/NANDO_2200357 先天性副腎低形成症 Congenital adrenal hypoplasia MONDO:0010264 http://www.w3.org/2004/02/skos/core#closeMatch X連鎖性先天性副腎低形成症 X-linked adrenal hypoplasia congenita https://monarchinitiative.org/MONDO:0010264 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch レッシュ・ナイハン症候群 Lesch-Nyhan syndrome https://monarchinitiative.org/MONDO:0010298 NANDO:2200934 http://nanbyodata.jp/ontology/NANDO_2200934 先天性多発肝内胆管拡張症 Caroli disease MONDO:0010913 http://www.w3.org/2004/02/skos/core#closeMatch 先天性多発肝内胆管拡張症 Caroli disease https://monarchinitiative.org/MONDO:0010913 NANDO:2201168 http://nanbyodata.jp/ontology/NANDO_2201168 Hurler病 Hurler Disease MONDO:0011758 http://www.w3.org/2004/02/skos/core#closeMatch Hurler症候群 Hurler syndrome https://monarchinitiative.org/MONDO:0011758 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://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 https://monarchinitiative.org/MONDO:0012172 NANDO:2200801 http://nanbyodata.jp/ontology/NANDO_2200801 CR2欠損症 CD21 deficiency MONDO:0012584 http://www.w3.org/2004/02/skos/core#closeMatch 全身性エリテマトーデス, 感受性, 9 systemic lupus erythematosus, susceptibility to, 9 https://monarchinitiative.org/MONDO:0012584 NANDO:2200451 http://nanbyodata.jp/ontology/NANDO_2200451 PLCG2異常症 PLCg2 deficiency 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 https://monarchinitiative.org/MONDO:0013944 NANDO:2200450 http://nanbyodata.jp/ontology/NANDO_2200450 DADA2 Deficiency of the enzyme ADA2 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 https://monarchinitiative.org/MONDO:0014306 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://www.w3.org/2004/02/skos/core#closeMatch 慢性原発性副腎機能不全 chronic primary adrenal insufficiency https://monarchinitiative.org/MONDO:0015129 NANDO:2200284 http://nanbyodata.jp/ontology/NANDO_2200284 大動脈縮窄複合 Coarctation complex MONDO:0015446 http://www.w3.org/2004/02/skos/core#closeMatch 異型大動脈縮窄症 atypical coarctation of aorta https://monarchinitiative.org/MONDO:0015446 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://www.w3.org/2004/02/skos/core#closeMatch カルニチンパルミトイルトランスフェラーゼII欠損症 carnitine palmitoyltransferase II deficiency https://monarchinitiative.org/MONDO:0015515 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch カルニチンパルミトイルトランスフェラーゼII欠損症 carnitine palmitoyltransferase II deficiency https://monarchinitiative.org/MONDO:0015515 NANDO:2201134 http://nanbyodata.jp/ontology/NANDO_2201134 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://www.w3.org/2004/02/skos/core#closeMatch カルニチンパルミトイルトランスフェラーゼII欠損症 carnitine palmitoyltransferase II deficiency https://monarchinitiative.org/MONDO:0015515 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 中性脂肪蓄積症 neutral lipid storage disease https://monarchinitiative.org/MONDO:0015611 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://www.w3.org/2004/02/skos/core#closeMatch シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease https://monarchinitiative.org/MONDO:0015626 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 9型コラーゲン異常による多発性骨端異形成症 multiple epiphyseal dysplasia due to collagen 9 anomaly https://monarchinitiative.org/MONDO:0015627 NANDO:2200234 http://nanbyodata.jp/ontology/NANDO_2200234 心室瘤 Aneurysm of ventricle MONDO:0015677 http://www.w3.org/2004/02/skos/core#closeMatch 心憩室 cardiac diverticulum https://monarchinitiative.org/MONDO:0015677 NANDO:2200805 http://nanbyodata.jp/ontology/NANDO_2200805 好酸球増加症 Hyper eosinophilic syndrome MONDO:0015691 http://www.w3.org/2004/02/skos/core#closeMatch 好酸球増加症候群 hypereosinophilic syndrome https://monarchinitiative.org/MONDO:0015691 NANDO:2200388 http://nanbyodata.jp/ontology/NANDO_2200388 混合性性腺異形成症 Mixed gonadal dysgenesis MONDO:0015779 http://www.w3.org/2004/02/skos/core#closeMatch 45,X/46,XY混合性性腺異形成症 45,X/46,XY mixed gonadal dysgenesis https://monarchinitiative.org/MONDO:0015779 NANDO: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://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 https://monarchinitiative.org/MONDO:0016002 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://www.w3.org/2004/02/skos/core#closeMatch 線維性軟骨発生症 fibrochondrogenesis https://monarchinitiative.org/MONDO:0016068 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://www.w3.org/2004/02/skos/core#closeMatch ムコ多糖症2型, 軽症型 mucopolysaccharidosis type 2, attenuated form https://monarchinitiative.org/MONDO:0016316 NANDO:2200340 http://nanbyodata.jp/ontology/NANDO_2200340 中枢性甲状腺機能低下症 Central hypothyroidism 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 https://monarchinitiative.org/MONDO:0016410 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://www.w3.org/2004/02/skos/core#closeMatch 家族性高アルドステロン症 familial hyperaldosteronism https://monarchinitiative.org/MONDO:0016525 NANDO:2200814 http://nanbyodata.jp/ontology/NANDO_2200814 脊髄髄膜瘤 Myelomeningocele MONDO:0017069 http://www.w3.org/2004/02/skos/core#closeMatch 脊髄髄膜瘤 spina bifida cystica https://monarchinitiative.org/MONDO:0017069 NANDO:2200399 http://nanbyodata.jp/ontology/NANDO_2200399 先天性高インスリン血症 Congenital hyperinsulinemia MONDO:0017182 http://www.w3.org/2004/02/skos/core#closeMatch 家族性高インスリン血症 familial hyperinsulinism https://monarchinitiative.org/MONDO:0017182 NANDO:2200681 http://nanbyodata.jp/ontology/NANDO_2200681 第XIII因子欠乏症 Factor XIII deficiency MONDO:0018029 http://www.w3.org/2004/02/skos/core#closeMatch 先天性第XIII因子欠乏症 congenital factor XIII deficiency https://monarchinitiative.org/MONDO:0018029 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch ミトコンドリアDNA枯渇症候群 mitochondrial DNA depletion syndrome https://monarchinitiative.org/MONDO:0018158 NANDO:2200948 http://nanbyodata.jp/ontology/NANDO_2200948 腸管神経節細胞僅少症 Congenital Isolated Hypoganglionosis MONDO:0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2201234 http://nanbyodata.jp/ontology/NANDO_2201234 腎型シスチン症 Nephropathic cystinosis MONDO:0018467 http://www.w3.org/2004/02/skos/core#closeMatch 乳児腎性シスチン症 nephropathic infantile cystinosis https://monarchinitiative.org/MONDO:0018467 NANDO:2200929 http://nanbyodata.jp/ontology/NANDO_2200929 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0018646 http://www.w3.org/2004/02/skos/core#closeMatch 硬化性胆管炎 sclerosing cholangitis https://monarchinitiative.org/MONDO:0018646 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://www.w3.org/2004/02/skos/core#closeMatch 家族性寒冷自己炎症症候群 familial cold autoinflammatory syndrome https://monarchinitiative.org/MONDO:0018768 NANDO:2200465 http://nanbyodata.jp/ontology/NANDO_2200465 脂肪萎縮性糖尿病 Lipoatrophic diabetes MONDO:0018883 http://www.w3.org/2004/02/skos/core#closeMatch 先天性全身性脂肪萎縮症 Berardinelli-Seip congenital lipodystrophy https://monarchinitiative.org/MONDO:0018883 NANDO:2200712 http://nanbyodata.jp/ontology/NANDO_2200712 胸腺低形成 Thymus hypoplasia MONDO:0018923 http://www.w3.org/2004/02/skos/core#closeMatch 22q11.2欠失症候群 22q11.2 deletion syndrome https://monarchinitiative.org/MONDO:0018923 NANDO:2200867 http://nanbyodata.jp/ontology/NANDO_2200867 ミオチュブラーミオパチー Myotubular myopathy MONDO:0018947 http://www.w3.org/2004/02/skos/core#closeMatch 中心核ミオパチー centronuclear myopathy https://monarchinitiative.org/MONDO:0018947 NANDO:2200570 http://nanbyodata.jp/ontology/NANDO_2200570 酸性リパーゼ欠損症 Acid lipase deficiency MONDO:0019148 http://www.w3.org/2004/02/skos/core#closeMatch 酸性リパーゼ欠損症 Wolman disease https://monarchinitiative.org/MONDO:0019148 NANDO:2200228 http://nanbyodata.jp/ontology/NANDO_2200228 QT延長症候群 Long qt syndrome MONDO:0019171 http://www.w3.org/2004/02/skos/core#closeMatch 家族性QT延長症候群 familial long QT syndrome https://monarchinitiative.org/MONDO:0019171 NANDO: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:0020439 http://www.w3.org/2004/02/skos/core#closeMatch 卵円孔開存 patent foramen ovale https://monarchinitiative.org/MONDO:0020439 NANDO:2201003 http://nanbyodata.jp/ontology/NANDO_2201003 レックリングハウゼン病 von Recklinghausen's disease MONDO:0021061 http://www.w3.org/2004/02/skos/core#closeMatch 神経線維腫症 neurofibromatosis https://monarchinitiative.org/MONDO:0021061 NANDO:2201111 http://nanbyodata.jp/ontology/NANDO_2201111 コバラミン代謝異常 cblG Methylcobalamin deficiency cblG type MONDO:0021915 http://www.w3.org/2004/02/skos/core#closeMatch コバラミン代謝異常 cblG arakawa syndrome 2 https://monarchinitiative.org/MONDO:0021915 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:0022424 http://www.w3.org/2004/02/skos/core#closeMatch α-マンノシドーシス1型 alpha-mannosidosis type 1 https://monarchinitiative.org/MONDO:0022424 NANDO:2200402 http://nanbyodata.jp/ontology/NANDO_2200402 ビタミンD抵抗性骨軟化症 Vitamin D-resistant osteomalacia MONDO:0024300 http://www.w3.org/2004/02/skos/core#closeMatch 低リン血症性くる病 hypophosphatemic rickets https://monarchinitiative.org/MONDO:0024300 NANDO:2200403 http://nanbyodata.jp/ontology/NANDO_2200403 原発性低リン血症性くる病 Primary hypophosphatemic rickets MONDO:0024300 http://www.w3.org/2004/02/skos/core#closeMatch 低リン血症性くる病 hypophosphatemic rickets https://monarchinitiative.org/MONDO:0024300 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://www.w3.org/2004/02/skos/core#closeMatch 仙尾部奇形腫 sacrococcygeal teratoma https://monarchinitiative.org/MONDO:0042727 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:0044744 http://www.w3.org/2004/02/skos/core#closeMatch 先天性プレカリクレイン欠乏症 prekallikrein deficiency https://monarchinitiative.org/MONDO:0044744 NANDO:2201452 http://nanbyodata.jp/ontology/NANDO_2201452 Romano-Ward症候群 Romano Ward syndrome MONDO:0002442 http://www.w3.org/2004/02/skos/core#closeMatch QT延長症候群 long QT syndrome https://monarchinitiative.org/MONDO:0002442 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://www.w3.org/2004/02/skos/core#closeMatch 多系統萎縮症 multiple system atrophy https://monarchinitiative.org/MONDO:0007803 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://www.w3.org/2004/02/skos/core#closeMatch 全身性若年性ポリポーシス/若年性大腸ポリポーシス generalized juvenile polyposis/juvenile polyposis coli https://monarchinitiative.org/MONDO:0008276 NANDO:2201457 http://nanbyodata.jp/ontology/NANDO_2201457 大腸限局型若年性ポリポーシス Juvenile polyposis coli MONDO:0008276 http://www.w3.org/2004/02/skos/core#closeMatch 全身性若年性ポリポーシス/若年性大腸ポリポーシス generalized juvenile polyposis/juvenile polyposis coli https://monarchinitiative.org/MONDO:0008276 NANDO:2201346 http://nanbyodata.jp/ontology/NANDO_2201346 軟骨低発生症 Hypochondrogenesis MONDO:0008703 http://www.w3.org/2004/02/skos/core#closeMatch 遠位中間肢異形成症2A acromesomelic dysplasia 2A https://monarchinitiative.org/MONDO:0008703 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch シェーグレン症候群 Sjogren syndrome https://monarchinitiative.org/MONDO:0010030 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch X連鎖性根性点状軟骨異形成症1 X-linked chondrodysplasia punctata 1 https://monarchinitiative.org/MONDO:0010555 NANDO:2201400 http://nanbyodata.jp/ontology/NANDO_2201400 GRIN2B関連神経発達異常症 GRIN2B-related neurodevelopmental disorder MONDO:0013509 http://www.w3.org/2004/02/skos/core#closeMatch 知的障害, 常染色体顕性6 intellectual disability, autosomal dominant 6 https://monarchinitiative.org/MONDO:0013509 NANDO:2201400 http://nanbyodata.jp/ontology/NANDO_2201400 GRIN2B関連神経発達異常症 GRIN2B-related neurodevelopmental disorder MONDO:0014505 http://www.w3.org/2004/02/skos/core#closeMatch 発達性およびてんかん性脳症27 developmental and epileptic encephalopathy, 27 https://monarchinitiative.org/MONDO:0014505 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch 単純型表皮水疱症 epidermolysis bullosa simplex https://monarchinitiative.org/MONDO:0017610 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2201466 http://nanbyodata.jp/ontology/NANDO_2201466 全結腸型ヒルシュスプルング病 Entire colon Hirschsprung disease MONDO:0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO: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://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2201465 http://nanbyodata.jp/ontology/NANDO_2201465 左右結腸型ヒルシュスプルング病 Long-segment Hirschsprung's disease MONDO:0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2201467 http://nanbyodata.jp/ontology/NANDO_2201467 小腸型ヒルシュスプルング病 Extensive aganglionosis Hirschsprung disease MONDO:0018309 http://www.w3.org/2004/02/skos/core#closeMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:2201391 http://nanbyodata.jp/ontology/NANDO_2201391 鰓耳腎症候群 Branchio-oto-renal syndrome MONDO:0018878 http://www.w3.org/2004/02/skos/core#closeMatch 鰓耳症候群 branchiootic syndrome https://monarchinitiative.org/MONDO:0018878 NANDO:2201421 http://nanbyodata.jp/ontology/NANDO_2201421 斑状強皮症 Circumscribed morphea MONDO:0019562 http://www.w3.org/2004/02/skos/core#closeMatch 限局性強皮症 localized scleroderma https://monarchinitiative.org/MONDO:0019562 NANDO:2201477 http://nanbyodata.jp/ontology/NANDO_2201477 低リン血症性骨軟化症 Hypophosphatemic osteomalacia MONDO:0024300 http://www.w3.org/2004/02/skos/core#closeMatch 低リン血症性くる病 hypophosphatemic rickets https://monarchinitiative.org/MONDO:0024300 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:0100025 http://www.w3.org/2004/02/skos/core#closeMatch 遊走性焦点発作を伴う乳児てんかん epilepsy of infancy with migrating focal seizures https://monarchinitiative.org/MONDO:0100025 NANDO:1201115 http://nanbyodata.jp/ontology/NANDO_1201115 TM/TAFI 異常症 Disorder of thrombomodulin/thrombin-activatable fibrinolysis inhibitor 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 https://monarchinitiative.org/MONDO:0013775 NANDO:1200215 http://nanbyodata.jp/ontology/NANDO_1200215 ウルリッヒ病 Ullrich disease MONDO:0000355 http://www.w3.org/2004/02/skos/core#exactMatch ウルリッヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy https://monarchinitiative.org/MONDO:0000355 NANDO:1200037 http://nanbyodata.jp/ontology/NANDO_1200037 脊髄小脳変性症 Spinocerebellar degeneration MONDO:0000437 http://www.w3.org/2004/02/skos/core#exactMatch 小脳性運動失調症 cerebellar ataxia https://monarchinitiative.org/MONDO:0000437 NANDO:1200026 http://nanbyodata.jp/ontology/NANDO_1200026 二次性進行型多発性硬化症 Secondary progressive multiple sclerosis MONDO:0000450 http://www.w3.org/2004/02/skos/core#exactMatch 二次性進行型多発性硬化症 secondary progressive multiple sclerosis https://monarchinitiative.org/MONDO:0000450 NANDO:1200025 http://nanbyodata.jp/ontology/NANDO_1200025 一次性進行型多発性硬化症 Primary progressive multiple sclerosis MONDO:0000451 http://www.w3.org/2004/02/skos/core#exactMatch 一次性進行型多発性硬化症 primary progressive multiple sclerosis https://monarchinitiative.org/MONDO:0000451 NANDO:1200003 http://nanbyodata.jp/ontology/NANDO_1200003 脊髄性筋萎縮症 Spinal muscular atrophy MONDO:0001516 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症 spinal muscular atrophy https://monarchinitiative.org/MONDO:0001516 NANDO:1200302 http://nanbyodata.jp/ontology/NANDO_1200302 先天性再生不良性貧血 Congenital aplastic anemia MONDO:0001713 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性再生不良性貧血 inherited aplastic anemia https://monarchinitiative.org/MONDO:0001713 NANDO:1200055 http://nanbyodata.jp/ontology/NANDO_1200055 ライソゾーム病 Lysosomal storage disease MONDO:0002561 http://www.w3.org/2004/02/skos/core#exactMatch ライソゾーム蓄積症 lysosomal storage disease https://monarchinitiative.org/MONDO:0002561 NANDO:1200320 http://nanbyodata.jp/ontology/NANDO_1200320 原発性免疫不全症候群 Primary immunodeficiency syndrome MONDO:0003778 http://www.w3.org/2004/02/skos/core#exactMatch 先天性免疫異常症 inborn error of immunity https://monarchinitiative.org/MONDO:0003778 NANDO:1100013 http://nanbyodata.jp/ontology/NANDO_1100013 消化器系疾患 Gastrointestinal disease MONDO:0004335 http://www.w3.org/2004/02/skos/core#exactMatch 消化器系障害 digestive system disorder https://monarchinitiative.org/MONDO:0004335 NANDO:1200243 http://nanbyodata.jp/ontology/NANDO_1200243 疱疹状膿痂疹 Impetigo herpetiformis MONDO:0004591 http://www.w3.org/2004/02/skos/core#exactMatch 疱疹状膿痂疹 impetigo herpetiformis https://monarchinitiative.org/MONDO:0004591 NANDO:1200002 http://nanbyodata.jp/ontology/NANDO_1200002 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 http://www.w3.org/2004/02/skos/core#exactMatch 筋萎縮性側索硬化症 amyotrophic lateral sclerosis https://monarchinitiative.org/MONDO:0004976 NANDO:1100005 http://nanbyodata.jp/ontology/NANDO_1100005 循環器系疾患 Cardiovascular disease MONDO:0004995 http://www.w3.org/2004/02/skos/core#exactMatch 心血管障害 cardiovascular disorder https://monarchinitiative.org/MONDO:0004995 NANDO:1200286 http://nanbyodata.jp/ontology/NANDO_1200286 肥大型心筋症 Hypertrophic cardiomyopathy MONDO:0005045 http://www.w3.org/2004/02/skos/core#exactMatch 肥大型心筋症 hypertrophic cardiomyopathy https://monarchinitiative.org/MONDO:0005045 NANDO:1100004 http://nanbyodata.jp/ontology/NANDO_1100004 免疫系疾患 Immune system disease MONDO:0005046 http://www.w3.org/2004/02/skos/core#exactMatch 免疫系異常 immune system disorder https://monarchinitiative.org/MONDO:0005046 NANDO:1100002 http://nanbyodata.jp/ontology/NANDO_1100002 代謝系疾患 Metabolic disease MONDO:0005066 http://www.w3.org/2004/02/skos/core#exactMatch 代謝疾患 metabolic disease https://monarchinitiative.org/MONDO:0005066 NANDO:1100010 http://nanbyodata.jp/ontology/NANDO_1100010 呼吸器系疾患 Respiratory disease MONDO:0005087 http://www.w3.org/2004/02/skos/core#exactMatch 呼吸器系障害 respiratory system disorder https://monarchinitiative.org/MONDO:0005087 NANDO:1200277 http://nanbyodata.jp/ontology/NANDO_1200277 全身性強皮症 Systemic sclerosis MONDO:0005100 http://www.w3.org/2004/02/skos/core#exactMatch 全身性強皮症 systemic sclerosis https://monarchinitiative.org/MONDO:0005100 NANDO:1100009 http://nanbyodata.jp/ontology/NANDO_1100009 内分泌系疾患 Endocrine disease MONDO:0005151 http://www.w3.org/2004/02/skos/core#exactMatch 内分泌系障害 endocrine system disorder https://monarchinitiative.org/MONDO:0005151 NANDO:1200010 http://nanbyodata.jp/ontology/NANDO_1200010 パーキンソン病 Parkinson's disease MONDO:0005180 http://www.w3.org/2004/02/skos/core#exactMatch パーキンソン病 Parkinson disease https://monarchinitiative.org/MONDO:0005180 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://www.w3.org/2004/02/skos/core#exactMatch 進行性外眼筋麻痺 progressive external ophthalmoplegia https://monarchinitiative.org/MONDO:0005181 NANDO:1200292 http://nanbyodata.jp/ontology/NANDO_1200292 拘束型心筋症 Restrictive cardiomyopathy MONDO:0005201 http://www.w3.org/2004/02/skos/core#exactMatch 拘束型心筋症 restrictive cardiomyopathy https://monarchinitiative.org/MONDO:0005201 NANDO:1200267 http://nanbyodata.jp/ontology/NANDO_1200267 原発性抗リン脂質抗体症候群 Primary antiphospholipid antibody syndrome MONDO:0005204 http://www.w3.org/2004/02/skos/core#exactMatch 原発性抗リン脂質抗体症候群 primary antiphospholipid syndrome https://monarchinitiative.org/MONDO:0005204 NANDO:1200023 http://nanbyodata.jp/ontology/NANDO_1200023 多発性硬化症 Multiple sclerosis MONDO:0005301 http://www.w3.org/2004/02/skos/core#exactMatch 多発性硬化症 multiple sclerosis https://monarchinitiative.org/MONDO:0005301 NANDO:1200024 http://nanbyodata.jp/ontology/NANDO_1200024 再発寛解型多発性硬化症 Relapsing-remitting multiple sclerosis MONDO:0005314 http://www.w3.org/2004/02/skos/core#exactMatch 再発寛解型多発性硬化症 relapsing-remitting multiple sclerosis https://monarchinitiative.org/MONDO:0005314 NANDO:1200186 http://nanbyodata.jp/ontology/NANDO_1200186 プリオン病 Prion disease MONDO:0005429 http://www.w3.org/2004/02/skos/core#exactMatch プリオン病 prion disease https://monarchinitiative.org/MONDO:0005429 NANDO:1100006 http://nanbyodata.jp/ontology/NANDO_1100006 血液系疾患 Blood disease MONDO:0005570 http://www.w3.org/2004/02/skos/core#exactMatch 血液障害 hematologic disorder https://monarchinitiative.org/MONDO:0005570 NANDO:1200278 http://nanbyodata.jp/ontology/NANDO_1200278 混合性結合組織病 Mixed connective tissue disease MONDO:0005854 http://www.w3.org/2004/02/skos/core#exactMatch 混合性結合組織病 mixed connective tissue disease https://monarchinitiative.org/MONDO:0005854 NANDO:1200234 http://nanbyodata.jp/ontology/NANDO_1200234 表皮水疱症 Epidermolysis bullosa MONDO:0006541 http://www.w3.org/2004/02/skos/core#exactMatch 表皮水疱症 epidermolysis bullosa https://monarchinitiative.org/MONDO:0006541 NANDO:1200228 http://nanbyodata.jp/ontology/NANDO_1200228 天疱瘡 Pemphigus MONDO:0006594 http://www.w3.org/2004/02/skos/core#exactMatch 天疱瘡 pemphigus https://monarchinitiative.org/MONDO:0006594 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://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 https://monarchinitiative.org/MONDO:0006702 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://www.w3.org/2004/02/skos/core#exactMatch 変異型クロイツフェルトヤコブ病 variant Creutzfeldt-Jakob disease https://monarchinitiative.org/MONDO:0007012 NANDO:1200227 http://nanbyodata.jp/ontology/NANDO_1200227 神経線維腫症II型 Neurofibromatosis type 2 MONDO:0007039 http://www.w3.org/2004/02/skos/core#exactMatch NF2関連神経鞘腫症 NF2-related schwannomatosis https://monarchinitiative.org/MONDO:0007039 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://www.w3.org/2004/02/skos/core#exactMatch 重症複合免疫不全症, 常染色体潜性, T細胞陰性, B細胞陰性, NK細胞陰性, アデノシンデアミナーゼ欠損による severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency https://monarchinitiative.org/MONDO:0007064 NANDO:1200041 http://nanbyodata.jp/ontology/NANDO_1200041 脊髄小脳失調症3型 Spinocerebellar ataxia type 3 MONDO:0007182 http://www.w3.org/2004/02/skos/core#exactMatch マシャド・ジョセフ病 Machado-Joseph disease https://monarchinitiative.org/MONDO:0007182 NANDO:1200284 http://nanbyodata.jp/ontology/NANDO_1200284 ベーチェット病 Behcet's disease MONDO:0007191 http://www.w3.org/2004/02/skos/core#exactMatch ベーチェット病 Behcet disease https://monarchinitiative.org/MONDO:0007191 NANDO:1200044 http://nanbyodata.jp/ontology/NANDO_1200044 脊髄小脳失調症31型 Spinocerebellar ataxia type 31 MONDO:0007296 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症31型 spinocerebellar ataxia type 31 https://monarchinitiative.org/MONDO:0007296 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 遺伝性クロイツフェルト・ヤコブ病 inherited Creutzfeldt-Jakob disease https://monarchinitiative.org/MONDO:0007403 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 歯状核赤核淡蒼球ルイ体萎縮症 dentatorubral-pallidoluysian atrophy https://monarchinitiative.org/MONDO:0007435 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ゲルストマン・シュトロイスラー・シャインカー症候群 Gerstmann-Straussler-Scheinker syndrome https://monarchinitiative.org/MONDO:0007656 NANDO:1200012 http://nanbyodata.jp/ontology/NANDO_1200012 ハンチントン病 Huntington's disease MONDO:0007739 http://www.w3.org/2004/02/skos/core#exactMatch ハンチントン病 Huntington disease https://monarchinitiative.org/MONDO:0007739 NANDO:1200034 http://nanbyodata.jp/ontology/NANDO_1200034 多系統萎縮症 Multiple system atrophy MONDO:0007803 http://www.w3.org/2004/02/skos/core#exactMatch 多系統萎縮症 multiple system atrophy https://monarchinitiative.org/MONDO:0007803 NANDO:1200032 http://nanbyodata.jp/ontology/NANDO_1200032 封入体筋炎 Sporadic inclusion body myositis MONDO:0007827 http://www.w3.org/2004/02/skos/core#exactMatch 封入体筋炎 inclusion body myositis https://monarchinitiative.org/MONDO:0007827 NANDO:1200272 http://nanbyodata.jp/ontology/NANDO_1200272 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 http://www.w3.org/2004/02/skos/core#exactMatch 全身性エリテマトーデス systemic lupus erythematosus https://monarchinitiative.org/MONDO:0007915 NANDO:1200220 http://nanbyodata.jp/ontology/NANDO_1200220 ベスレムミオパチー Bethlem Myopathy MONDO:0008029 http://www.w3.org/2004/02/skos/core#exactMatch ベスレムミオパチー Bethlem myopathy https://monarchinitiative.org/MONDO:0008029 NANDO:1200206 http://nanbyodata.jp/ontology/NANDO_1200206 HTLV-1関連脊髄症 HTLV-1-associated myelopathy MONDO:0008039 http://www.w3.org/2004/02/skos/core#exactMatch 熱帯性痙性不全対麻痺 tropical spastic paraparesis https://monarchinitiative.org/MONDO:0008039 NANDO:1200045 http://nanbyodata.jp/ontology/NANDO_1200045 脊髄小脳失調症1型 Spinocerebellar ataxia type 1 MONDO:0008119 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症1型 spinocerebellar ataxia type 1 https://monarchinitiative.org/MONDO:0008119 NANDO:1200229 http://nanbyodata.jp/ontology/NANDO_1200229 尋常性天疱瘡 Pemphigus vulgaris MONDO:0008219 http://www.w3.org/2004/02/skos/core#exactMatch 尋常性天疱瘡 pemphigus vulgaris https://monarchinitiative.org/MONDO:0008219 NANDO:1200239 http://nanbyodata.jp/ontology/NANDO_1200239 キンドラー症候群 Kindler syndrome MONDO:0008260 http://www.w3.org/2004/02/skos/core#exactMatch キンドラー症候群 Kindler syndrome https://monarchinitiative.org/MONDO:0008260 NANDO:1200042 http://nanbyodata.jp/ontology/NANDO_1200042 脊髄小脳失調症6型 Spinocerebellar ataxia type 6 MONDO:0008457 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症6型 spinocerebellar ataxia type 6 https://monarchinitiative.org/MONDO:0008457 NANDO:1200046 http://nanbyodata.jp/ontology/NANDO_1200046 脊髄小脳失調症2型 Spinocerebellar ataxia type 2 MONDO:0008458 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症2型 spinocerebellar ataxia type 2 https://monarchinitiative.org/MONDO:0008458 NANDO:1200258 http://nanbyodata.jp/ontology/NANDO_1200258 巨細胞性動脈炎 Giant cell arteritis MONDO:0008538 http://www.w3.org/2004/02/skos/core#exactMatch 側頭動脈炎 temporal arteritis https://monarchinitiative.org/MONDO:0008538 NANDO:1200315 http://nanbyodata.jp/ontology/NANDO_1200315 免疫性血小板減少症 Immune thrombocytopenia MONDO:0008558 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性血小板減少性紫斑病 autoimmune thrombocytopenic purpura https://monarchinitiative.org/MONDO:0008558 NANDO:1200014 http://nanbyodata.jp/ontology/NANDO_1200014 有棘赤血球舞踏病 Chorea-acanthocytosis MONDO:0008695 http://www.w3.org/2004/02/skos/core#exactMatch VPS13A関連神経変性疾患 VPS13A-related neurodegenerative disease https://monarchinitiative.org/MONDO:0008695 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://www.w3.org/2004/02/skos/core#exactMatch アスパルチルグルコサミン尿症 aspartylglucosaminuria https://monarchinitiative.org/MONDO:0008830 NANDO:1200331 http://nanbyodata.jp/ontology/NANDO_1200331 毛細血管拡張性運動失調症 Ataxia telangiectasia MONDO:0008840 http://www.w3.org/2004/02/skos/core#exactMatch 毛細血管拡張性運動失調症 ataxia telangiectasia https://monarchinitiative.org/MONDO:0008840 NANDO: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://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 https://monarchinitiative.org/MONDO:0008842 NANDO:1200329 http://nanbyodata.jp/ontology/NANDO_1200329 MHCクラスII欠損症 MHC class II deficiency MONDO:0008855 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスII欠損症 MHC class II deficiency https://monarchinitiative.org/MONDO:0008855 NANDO:1200266 http://nanbyodata.jp/ontology/NANDO_1200266 バージャー病 Buerger's disease MONDO:0008889 http://www.w3.org/2004/02/skos/core#exactMatch 閉塞性血栓血管炎 thromboangiitis obliterans https://monarchinitiative.org/MONDO:0008889 NANDO:1200207 http://nanbyodata.jp/ontology/NANDO_1200207 特発性基底核石灰化症 Idiopathic basal ganglia calcification MONDO:0008947 http://www.w3.org/2004/02/skos/core#exactMatch 両側性大脳基底核石灰化症 bilateral striopallidodentate calcinosis https://monarchinitiative.org/MONDO:0008947 NANDO:1200164 http://nanbyodata.jp/ontology/NANDO_1200164 非腎型シスチン症 Non-nephropathic cystinosis MONDO:0009064 http://www.w3.org/2004/02/skos/core#exactMatch 眼型シスチン症 ocular cystinosis https://monarchinitiative.org/MONDO:0009064 NANDO:1200163 http://nanbyodata.jp/ontology/NANDO_1200163 中間型シスチン症 Intermediate cystinosis MONDO:0009066 http://www.w3.org/2004/02/skos/core#exactMatch 中間型シスチン症 juvenile nephropathic cystinosis https://monarchinitiative.org/MONDO:0009066 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 劣性栄養障害型表皮水疱症 recessive dystrophic epidermolysis bullosa https://monarchinitiative.org/MONDO:0009179 NANDO:1200086 http://nanbyodata.jp/ontology/NANDO_1200086 ファーバー病 Farber disease MONDO:0009218 http://www.w3.org/2004/02/skos/core#exactMatch ファーバー脂肪肉芽腫症 Farber lipogranulomatosis https://monarchinitiative.org/MONDO:0009218 NANDO:1200130 http://nanbyodata.jp/ontology/NANDO_1200130 フコシドーシス Fucosidosis MONDO:0009254 http://www.w3.org/2004/02/skos/core#exactMatch フコシドーシス fucosidosis https://monarchinitiative.org/MONDO:0009254 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス1型 GM1 gangliosidosis type 1 https://monarchinitiative.org/MONDO:0009260 NANDO:1200068 http://nanbyodata.jp/ontology/NANDO_1200068 若年型GM1-ガングリオシドーシス Juvenile GM1 gangliosidosis MONDO:0009261 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス2型 GM1 gangliosidosis type 2 https://monarchinitiative.org/MONDO:0009261 NANDO:1200069 http://nanbyodata.jp/ontology/NANDO_1200069 成人型GM1-ガングリオシドーシス Adult GM1 gangliosidosis MONDO:0009262 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス3型 GM1 gangliosidosis type 3 https://monarchinitiative.org/MONDO:0009262 NANDO:1200057 http://nanbyodata.jp/ontology/NANDO_1200057 ゴーシェ病1型 Gaucher disease type 1 MONDO:0009265 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病I型 Gaucher disease type I https://monarchinitiative.org/MONDO:0009265 NANDO:1200058 http://nanbyodata.jp/ontology/NANDO_1200058 ゴーシェ病2型 Gaucher disease type 2 MONDO:0009266 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病II型 Gaucher disease type II https://monarchinitiative.org/MONDO:0009266 NANDO:1200059 http://nanbyodata.jp/ontology/NANDO_1200059 ゴーシェ病3型 Gaucher disease type 3 MONDO:0009267 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病III型 Gaucher disease type III https://monarchinitiative.org/MONDO:0009267 NANDO:1200074 http://nanbyodata.jp/ontology/NANDO_1200074 クラッベ病 Krabbe disease MONDO:0009499 http://www.w3.org/2004/02/skos/core#exactMatch クラッベ病 Krabbe disease https://monarchinitiative.org/MONDO:0009499 NANDO:1200126 http://nanbyodata.jp/ontology/NANDO_1200126 α-マンノシドーシス Alpha-mannosidosis MONDO:0009561 http://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス alpha-mannosidosis https://monarchinitiative.org/MONDO:0009561 NANDO:1200129 http://nanbyodata.jp/ontology/NANDO_1200129 β-マンノシドーシス Beta-mannosidosis MONDO:0009562 http://www.w3.org/2004/02/skos/core#exactMatch β-マンノシドーシス beta-mannosidosis https://monarchinitiative.org/MONDO:0009562 NANDO:1200082 http://nanbyodata.jp/ontology/NANDO_1200082 サポシンB欠損症 Saposin B deficiency MONDO:0009590 http://www.w3.org/2004/02/skos/core#exactMatch サポシンB欠損性異染性白質ジストロフィー metachromatic leukodystrophy due to saposin B deficiency https://monarchinitiative.org/MONDO:0009590 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 若年型 metachromatic leukodystrophy, juvenile form https://monarchinitiative.org/MONDO:0009591 NANDO:1200124 http://nanbyodata.jp/ontology/NANDO_1200124 ムコリピドーシスII型 Mucolipidosis II MONDO:0009650 http://www.w3.org/2004/02/skos/core#exactMatch ムコリピドーシスII型 mucolipidosis type II https://monarchinitiative.org/MONDO:0009650 NANDO:1200101 http://nanbyodata.jp/ontology/NANDO_1200101 サンフィリッポ症候群A型 Sanfilippo disease type A MONDO:0009655 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3A型 mucopolysaccharidosis type 3A https://monarchinitiative.org/MONDO:0009655 NANDO:1200102 http://nanbyodata.jp/ontology/NANDO_1200102 サンフィリッポ症候群B型 Sanfilippo disease type B MONDO:0009656 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 10型 mucopolysaccharidosis type 3B https://monarchinitiative.org/MONDO:0009656 NANDO:1200103 http://nanbyodata.jp/ontology/NANDO_1200103 サンフィリッポ症候群C型 Sanfilippo disease type C MONDO:0009657 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3B型 mucopolysaccharidosis type 3C https://monarchinitiative.org/MONDO:0009657 NANDO:1200104 http://nanbyodata.jp/ontology/NANDO_1200104 サンフィリッポ症候群D型 Sanfilippo disease type D MONDO:0009658 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3C型 mucopolysaccharidosis type 3D https://monarchinitiative.org/MONDO:0009658 NANDO:1200106 http://nanbyodata.jp/ontology/NANDO_1200106 モルキオ症候群A型 Morquio syndrome type A MONDO:0009659 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4A型 mucopolysaccharidosis type 4A https://monarchinitiative.org/MONDO:0009659 NANDO:1200107 http://nanbyodata.jp/ontology/NANDO_1200107 モルキオ症候群B型 Morquio syndrome type B MONDO:0009660 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4B型 mucopolysaccharidosis type 4B https://monarchinitiative.org/MONDO:0009660 NANDO:1200108 http://nanbyodata.jp/ontology/NANDO_1200108 マロトー・ラミー症候群 Maroteaux-Lamy syndrome MONDO:0009661 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症6型 mucopolysaccharidosis type 6 https://monarchinitiative.org/MONDO:0009661 NANDO:1200111 http://nanbyodata.jp/ontology/NANDO_1200111 Sly病 Sly syndrome MONDO:0009662 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症7型 mucopolysaccharidosis type 7 https://monarchinitiative.org/MONDO:0009662 NANDO:1200004 http://nanbyodata.jp/ontology/NANDO_1200004 脊髄性筋萎縮症I型 Spinal muscular atrophy type I MONDO:0009669 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症1型 spinal muscular atrophy, type 1 https://monarchinitiative.org/MONDO:0009669 NANDO:1200006 http://nanbyodata.jp/ontology/NANDO_1200006 脊髄性筋萎縮症III型 Spinal muscular atrophy type III MONDO:0009672 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症III型 spinal muscular atrophy, type III https://monarchinitiative.org/MONDO:0009672 NANDO:1200005 http://nanbyodata.jp/ontology/NANDO_1200005 脊髄性筋萎縮症II型 Spinal muscular atrophy type II MONDO:0009673 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症II型 spinal muscular atrophy, type II https://monarchinitiative.org/MONDO:0009673 NANDO:1200217 http://nanbyodata.jp/ontology/NANDO_1200217 三好型ミオパチー Miyoshi myopathy MONDO:0009685 http://www.w3.org/2004/02/skos/core#exactMatch 三好型ミオパチー Miyoshi myopathy https://monarchinitiative.org/MONDO:0009685 NANDO:1200020 http://nanbyodata.jp/ontology/NANDO_1200020 重症筋無力症 Myasthenia gravis MONDO:0009688 http://www.w3.org/2004/02/skos/core#exactMatch 重症筋無力症 myasthenia gravis https://monarchinitiative.org/MONDO:0009688 NANDO:1200334 http://nanbyodata.jp/ontology/NANDO_1200334 ICF症候群 ICF syndrome MONDO:0000133 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全-動原体不安定性-顔面奇形症候群 immunodeficiency-centromeric instability-facial anomalies syndrome https://monarchinitiative.org/MONDO:0000133 NANDO:1200522 http://nanbyodata.jp/ontology/NANDO_1200522 DYT11ジストニア Dystonia 11 MONDO:0000903 http://www.w3.org/2004/02/skos/core#exactMatch ミオクローヌス・ジストニア症候群 myoclonus-dystonia syndrome https://monarchinitiative.org/MONDO:0000903 NANDO:1200502 http://nanbyodata.jp/ontology/NANDO_1200502 遺伝性周期性四肢麻痺 Hereditary periodic paralysis MONDO:0000995 http://www.w3.org/2004/02/skos/core#exactMatch 家族性周期性四肢麻痺 familial periodic paralysis https://monarchinitiative.org/MONDO:0000995 NANDO:1200395 http://nanbyodata.jp/ontology/NANDO_1200395 甲状腺ホルモン不応症 Resistance to thyroid hormone MONDO:0001328 http://www.w3.org/2004/02/skos/core#exactMatch 甲状腺ホルモン不応症候群 thyroid hormone resistance syndrome https://monarchinitiative.org/MONDO:0001328 NANDO:1200347 http://nanbyodata.jp/ontology/NANDO_1200347 選択的IgA欠損症 Selective IgA deficiency MONDO:0001341 http://www.w3.org/2004/02/skos/core#exactMatch 選択的IgA欠損症 selective IgA deficiency disease https://monarchinitiative.org/MONDO:0001341 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://www.w3.org/2004/02/skos/core#exactMatch 顔面肩甲上腕型筋ジストロフィー facioscapulohumeral muscular dystrophy https://monarchinitiative.org/MONDO:0001347 NANDO:1200607 http://nanbyodata.jp/ontology/NANDO_1200607 結節性硬化症 Tuberous sclerosis complex MONDO:0001734 http://www.w3.org/2004/02/skos/core#exactMatch 結節性硬化症 tuberous sclerosis https://monarchinitiative.org/MONDO:0001734 NANDO:1200416 http://nanbyodata.jp/ontology/NANDO_1200416 特発性間質性肺炎 Idiopathic interstitial pneumonia MONDO:0002429 http://www.w3.org/2004/02/skos/core#exactMatch 特発性間質性肺炎 idiopathic interstitial pneumonia https://monarchinitiative.org/MONDO:0002429 NANDO:1200626 http://nanbyodata.jp/ontology/NANDO_1200626 IBID Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature MONDO:0002470 http://www.w3.org/2004/02/skos/core#exactMatch 光線過敏性裂毛症 photosensitive trichothiodystrophy https://monarchinitiative.org/MONDO:0002470 NANDO:1200364 http://nanbyodata.jp/ontology/NANDO_1200364 先天性補体欠損症 Inherited deficiency of complement system MONDO:0003832 http://www.w3.org/2004/02/skos/core#exactMatch 補体欠損症 complement deficiency https://monarchinitiative.org/MONDO:0003832 NANDO:1200345 http://nanbyodata.jp/ontology/NANDO_1200345 高IgM症候群 Hyper-IgM syndrome MONDO:0003947 http://www.w3.org/2004/02/skos/core#exactMatch 高IgM症候群 hyper-IgM syndrome https://monarchinitiative.org/MONDO:0003947 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://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 https://monarchinitiative.org/MONDO:0004691 NANDO:1200444 http://nanbyodata.jp/ontology/NANDO_1200444 クローン病 Crohn's disease MONDO:0005011 http://www.w3.org/2004/02/skos/core#exactMatch クローン病 Crohn disease https://monarchinitiative.org/MONDO:0005011 NANDO:1200449 http://nanbyodata.jp/ontology/NANDO_1200449 潰瘍性大腸炎 Ulcerative colitis MONDO:0005101 http://www.w3.org/2004/02/skos/core#exactMatch 潰瘍性大腸炎 ulcerative colitis https://monarchinitiative.org/MONDO:0005101 NANDO:1200387 http://nanbyodata.jp/ontology/NANDO_1200387 下垂体前葉機能低下症 Hypopituitarism syndrome MONDO:0005152 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体機能低下症 hypopituitarism https://monarchinitiative.org/MONDO:0005152 NANDO:1200366 http://nanbyodata.jp/ontology/NANDO_1200366 IgＡ腎症 IgA nephropathy MONDO:0005342 http://www.w3.org/2004/02/skos/core#exactMatch IgＡ腎症 IgA glomerulonephritis https://monarchinitiative.org/MONDO:0005342 NANDO:1200456 http://nanbyodata.jp/ontology/NANDO_1200456 好酸球性食道炎 Eosinophilic esophagitis MONDO:0005361 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性食道炎 eosinophilic esophagitis https://monarchinitiative.org/MONDO:0005361 NANDO:1200439 http://nanbyodata.jp/ontology/NANDO_1200439 原発性胆汁性胆管炎 Primary biliary cholangitis MONDO:0005388 http://www.w3.org/2004/02/skos/core#exactMatch 原発性胆汁性胆管炎 primary biliary cholangitis https://monarchinitiative.org/MONDO:0005388 NANDO:1200446 http://nanbyodata.jp/ontology/NANDO_1200446 大腸型クローン病 Colonic Crohn's disease MONDO:0005532 http://www.w3.org/2004/02/skos/core#exactMatch 大腸型クローン病 Crohn's colitis https://monarchinitiative.org/MONDO:0005532 NANDO:1200451 http://nanbyodata.jp/ontology/NANDO_1200451 潰瘍性大腸炎（左側大腸炎型） Left-sided colitis MONDO:0005533 http://www.w3.org/2004/02/skos/core#exactMatch 潰瘍性大腸炎（左側大腸炎型） distal colitis https://monarchinitiative.org/MONDO:0005533 NANDO:1200447 http://nanbyodata.jp/ontology/NANDO_1200447 小腸大腸型クローン病 Crohn ileocolitis MONDO:0005534 http://www.w3.org/2004/02/skos/core#exactMatch 小腸大腸型クローン病 ileocolitis https://monarchinitiative.org/MONDO:0005534 NANDO:1200450 http://nanbyodata.jp/ontology/NANDO_1200450 潰瘍性大腸炎（全大腸炎型） Pan-ulcerative colitis MONDO:0005536 http://www.w3.org/2004/02/skos/core#exactMatch 潰瘍性大腸炎（全大腸炎型） pancolitis https://monarchinitiative.org/MONDO:0005536 NANDO:1200445 http://nanbyodata.jp/ontology/NANDO_1200445 小腸型クローン病 small bowel Crohn disease MONDO:0005539 http://www.w3.org/2004/02/skos/core#exactMatch 小腸型クローン病 small bowel Crohn disease https://monarchinitiative.org/MONDO:0005539 NANDO:1200372 http://nanbyodata.jp/ontology/NANDO_1200372 広範脊柱管狭窄症 Coexisting cervical and lumbar spinal stenosis MONDO:0005965 http://www.w3.org/2004/02/skos/core#exactMatch 脊柱管狭窄症 spinal stenosis https://monarchinitiative.org/MONDO:0005965 NANDO:1200376 http://nanbyodata.jp/ontology/NANDO_1200376 抗利尿ホルモン不適切分泌症候群 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:0006802 http://www.w3.org/2004/02/skos/core#exactMatch 抗利尿ホルモン不適合分泌症候群 inappropriate ADH syndrome https://monarchinitiative.org/MONDO:0006802 NANDO:1200675 http://nanbyodata.jp/ontology/NANDO_1200675 鰓耳腎症候群 Branchio-oto-renal syndrome MONDO:0007029 http://www.w3.org/2004/02/skos/core#exactMatch 鰓耳腎症候群 branchio-oto-renal syndrome https://monarchinitiative.org/MONDO:0007029 NANDO:1200667 http://nanbyodata.jp/ontology/NANDO_1200667 アペール症候群 Apert syndrome MONDO:0007041 http://www.w3.org/2004/02/skos/core#exactMatch アペール症候群 Apert syndrome https://monarchinitiative.org/MONDO:0007041 NANDO:1200668 http://nanbyodata.jp/ontology/NANDO_1200668 ファイファー症候群 Pfeiffer syndrome MONDO:0007043 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群 Pfeiffer syndrome https://monarchinitiative.org/MONDO:0007043 NANDO:1200479 http://nanbyodata.jp/ontology/NANDO_1200479 セントラルコア病 Central core disease MONDO:0007294 http://www.w3.org/2004/02/skos/core#exactMatch セントラルコアミオパチー central core myopathy https://monarchinitiative.org/MONDO:0007294 NANDO:1200666 http://nanbyodata.jp/ontology/NANDO_1200666 クルーゾン症候群 Crouzon's syndrome MONDO:0007405 http://www.w3.org/2004/02/skos/core#exactMatch クルーゾン症候群 Crouzon syndrome https://monarchinitiative.org/MONDO:0007405 NANDO:1200545 http://nanbyodata.jp/ontology/NANDO_1200545 皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy MONDO:0007432 http://www.w3.org/2004/02/skos/core#exactMatch 皮質下梗塞および白質脳症を伴う脳動脈症 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy https://monarchinitiative.org/MONDO:0007432 NANDO:1200375 http://nanbyodata.jp/ontology/NANDO_1200375 中枢性尿崩症 Central diabetes insipidus MONDO:0007450 http://www.w3.org/2004/02/skos/core#exactMatch 神経下垂体性尿崩症 neurohypophyseal diabetes insipidus https://monarchinitiative.org/MONDO:0007450 NANDO:1200512 http://nanbyodata.jp/ontology/NANDO_1200512 DYT1ジストニア Dystonia 1 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 https://monarchinitiative.org/MONDO:0007492 NANDO:1200515 http://nanbyodata.jp/ontology/NANDO_1200515 DYT4ジストニア Dystonia 4 MONDO:0007493 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア4 torsion dystonia 4 https://monarchinitiative.org/MONDO:0007493 NANDO:1200523 http://nanbyodata.jp/ontology/NANDO_1200523 DYT12ジストニア Dystonia 12 MONDO:0007496 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア12 dystonia 12 https://monarchinitiative.org/MONDO:0007496 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 古典型 Ehlers-Danlos syndrome, classic type https://monarchinitiative.org/MONDO:0007522 NANDO:1200647 http://nanbyodata.jp/ontology/NANDO_1200647 関節型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, hypermobility type MONDO:0007523 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 関節過可動型 Ehlers-Danlos syndrome, hypermobility type https://monarchinitiative.org/MONDO:0007523 NANDO:1200650 http://nanbyodata.jp/ontology/NANDO_1200650 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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 多発関節弛緩型 Ehlers-Danlos syndrome, arthrochalasia type https://monarchinitiative.org/MONDO:0007525 NANDO: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://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 https://monarchinitiative.org/MONDO:0007727 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://www.w3.org/2004/02/skos/core#exactMatch 表在性表皮融解性魚鱗癬 superficial epidermolytic ichthyosis https://monarchinitiative.org/MONDO:0007813 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome https://monarchinitiative.org/MONDO:0007947 NANDO:1200559 http://nanbyodata.jp/ontology/NANDO_1200559 メビウス症候群 Moebius syndrome MONDO:0008006 http://www.w3.org/2004/02/skos/core#exactMatch メビウス症候群 Mobius syndrome https://monarchinitiative.org/MONDO:0008006 NANDO:1200354 http://nanbyodata.jp/ontology/NANDO_1200354 周期性好中球減少症 Cyclic neutropenia MONDO:0008090 http://www.w3.org/2004/02/skos/core#exactMatch 周期性好中球減少症 cyclic hematopoiesis https://monarchinitiative.org/MONDO:0008090 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 眼咽頭筋型筋ジストロフィー oculopharyngeal muscular dystrophy https://monarchinitiative.org/MONDO:0008116 NANDO:1200501 http://nanbyodata.jp/ontology/NANDO_1200501 先天性パラミオトニー Paramyotonia congenita MONDO:0008195 http://www.w3.org/2004/02/skos/core#exactMatch Von Eulenburg先天性パラミオトニア paramyotonia congenita of Von Eulenburg https://monarchinitiative.org/MONDO:0008195 NANDO:1200547 http://nanbyodata.jp/ontology/NANDO_1200547 ペリー病 Perry disease MONDO:0008201 http://www.w3.org/2004/02/skos/core#exactMatch ペリー症候群 Perry syndrome https://monarchinitiative.org/MONDO:0008201 NANDO:1200631 http://nanbyodata.jp/ontology/NANDO_1200631 家族性良性慢性天疱瘡 Benign familial pemphigus MONDO:0008218 http://www.w3.org/2004/02/skos/core#exactMatch ヘイリー・ヘイリー病 Hailey-Hailey disease https://monarchinitiative.org/MONDO:0008218 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 低カリウム性周期性四肢麻痺 hypokalemic periodic paralysis https://monarchinitiative.org/MONDO:0008223 NANDO:1200504 http://nanbyodata.jp/ontology/NANDO_1200504 遺伝性高カリウム性周期性四肢麻痺 Hereditary hyperkalemic periodic paralysis MONDO:0008224 http://www.w3.org/2004/02/skos/core#exactMatch 高カリウム性周期性四肢麻痺 hyperkalemic periodic paralysis https://monarchinitiative.org/MONDO:0008224 NANDO:1200678 http://nanbyodata.jp/ontology/NANDO_1200678 プラダー・ウィリ症候群 Prader-Willi syndrome MONDO:0008300 http://www.w3.org/2004/02/skos/core#exactMatch プラダー・ウィリ症候群 Prader-Willi syndrome https://monarchinitiative.org/MONDO:0008300 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch スタージ・ウェーバー症候群 Sturge-Weber syndrome https://monarchinitiative.org/MONDO:0008501 NANDO:1200558 http://nanbyodata.jp/ontology/NANDO_1200558 先天性核上性球麻痺 Congenital suprabulbar paresis MONDO:0008503 http://www.w3.org/2004/02/skos/core#exactMatch 先天性核上性球麻痺 Worster-Drought syndrome https://monarchinitiative.org/MONDO:0008503 NANDO:1200476 http://nanbyodata.jp/ontology/NANDO_1200476 ブラウ症候群 Blau syndrome MONDO:0008523 http://www.w3.org/2004/02/skos/core#exactMatch ブラウ症候群 Blau syndrome https://monarchinitiative.org/MONDO:0008523 NANDO:1200467 http://nanbyodata.jp/ontology/NANDO_1200467 マックル・ウェルズ症候群 Muckle-Wells syndrome MONDO:0008633 http://www.w3.org/2004/02/skos/core#exactMatch マックル・ウェルズ症候群 Muckle-Wells syndrome https://monarchinitiative.org/MONDO:0008633 NANDO:1200657 http://nanbyodata.jp/ontology/NANDO_1200657 VATER症候群 VATER syndrome MONDO:0008642 http://www.w3.org/2004/02/skos/core#exactMatch VATER/VATER連合 VACTERL/vater association https://monarchinitiative.org/MONDO:0008642 NANDO:1200664 http://nanbyodata.jp/ontology/NANDO_1200664 ウィリアムズ症候群 Williams syndrome MONDO:0008678 http://www.w3.org/2004/02/skos/core#exactMatch ウィリアムズ症候群 Williams syndrome https://monarchinitiative.org/MONDO:0008678 NANDO: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://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 https://monarchinitiative.org/MONDO:0008727 NANDO:1200399 http://nanbyodata.jp/ontology/NANDO_1200399 21-水酸化酵素欠損症 21-Hydroxylase deficiency 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 https://monarchinitiative.org/MONDO:0008728 NANDO:1200400 http://nanbyodata.jp/ontology/NANDO_1200400 11β-水酸化酵素欠損症 11-β-Hydroxylase deficiency 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 https://monarchinitiative.org/MONDO:0008729 NANDO:1200401 http://nanbyodata.jp/ontology/NANDO_1200401 17α−水酸化酵素欠損症 17-α-Hydroxylase deficiency 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 https://monarchinitiative.org/MONDO:0008730 NANDO:1200460 http://nanbyodata.jp/ontology/NANDO_1200460 腸管神経節細胞僅少症 Congenital isolated hypoganglionosis MONDO:0008738 http://www.w3.org/2004/02/skos/core#exactMatch 神経節細胞欠損症, 全腸管 aganglionosis, total intestinal https://monarchinitiative.org/MONDO:0008738 NANDO:1200554 http://nanbyodata.jp/ontology/NANDO_1200554 アレキサンダー病 Alexander disease MONDO:0008752 http://www.w3.org/2004/02/skos/core#exactMatch アレキサンダー病 Alexander disease https://monarchinitiative.org/MONDO:0008752 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch アントレー・ビクスラー症候群 Antley-Bixler syndrome https://monarchinitiative.org/MONDO:0008803 NANDO:1200333 http://nanbyodata.jp/ontology/NANDO_1200333 ブルーム症候群 Bloom syndrome MONDO:0008876 http://www.w3.org/2004/02/skos/core#exactMatch ブルーム症候群 Bloom syndrome https://monarchinitiative.org/MONDO:0008876 NANDO:1200350 http://nanbyodata.jp/ontology/NANDO_1200350 チェディアック・東症候群 Chédiak-Higashi syndrome MONDO:0008963 http://www.w3.org/2004/02/skos/core#exactMatch チェディアック・東症候群 Chediak-Higashi syndrome https://monarchinitiative.org/MONDO:0008963 NANDO:1200464 http://nanbyodata.jp/ontology/NANDO_1200464 チャージ症候群 CHARGE syndrome MONDO:0008965 http://www.w3.org/2004/02/skos/core#exactMatch CHARGE症候群 CHARGE syndrome https://monarchinitiative.org/MONDO:0008965 NANDO:1200463 http://nanbyodata.jp/ontology/NANDO_1200463 コステロ症候群 Costello syndrome MONDO:0009026 http://www.w3.org/2004/02/skos/core#exactMatch コステロ症候群 Costello syndrome https://monarchinitiative.org/MONDO:0009026 NANDO:1200379 http://nanbyodata.jp/ontology/NANDO_1200379 クッシング病 Cushing disease MONDO:0009050 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体腺腫によるクッシング病 Cushing disease due to pituitary adenoma https://monarchinitiative.org/MONDO:0009050 NANDO:1200658 http://nanbyodata.jp/ontology/NANDO_1200658 那須・ハコラ病 Nasu-Hakola disease 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 https://monarchinitiative.org/MONDO:0009092 NANDO:1200513 http://nanbyodata.jp/ontology/NANDO_1200513 DYT2ジストニア Dystonia 2 MONDO:0009141 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア2 torsion dystonia 2 https://monarchinitiative.org/MONDO:0009141 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 皮膚脆弱型 Ehlers-Danlos syndrome, dermatosparaxis type https://monarchinitiative.org/MONDO:0009161 NANDO:1200410 http://nanbyodata.jp/ontology/NANDO_1200410 Allgrove症候群 Allgrove syndrome MONDO:0009279 http://www.w3.org/2004/02/skos/core#exactMatch AAA症候群 triple-A syndrome https://monarchinitiative.org/MONDO:0009279 NANDO:1200534 http://nanbyodata.jp/ontology/NANDO_1200534 NBIA1 Neurodegeneration with brain iron accumulation type 1 MONDO:0009319 http://www.w3.org/2004/02/skos/core#exactMatch パントテン酸キナーゼ関連神経変性症 pantothenate kinase-associated neurodegeneration https://monarchinitiative.org/MONDO:0009319 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 肝静脈閉塞症-免疫不全症候群 hepatic veno-occlusive disease-immunodeficiency syndrome https://monarchinitiative.org/MONDO:0009338 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch モワット・ウィルソン症候群 Mowat-Wilson syndrome https://monarchinitiative.org/MONDO:0009341 NANDO:1200614 http://nanbyodata.jp/ontology/NANDO_1200614 道化師様魚鱗癬 Harlequin ichthyosis MONDO:0009443 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性先天性魚鱗癬4B autosomal recessive congenital ichthyosis 4B https://monarchinitiative.org/MONDO:0009443 NANDO:1200337 http://nanbyodata.jp/ontology/NANDO_1200337 シムケ症候群 Schimke syndrome 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 https://monarchinitiative.org/MONDO:0009458 NANDO:1200662 http://nanbyodata.jp/ontology/NANDO_1200662 有馬症候群 Arima syndrome MONDO:0009480 http://www.w3.org/2004/02/skos/core#exactMatch 眼腎障害を伴うジュベール症候群 Joubert syndrome with oculorenal defect https://monarchinitiative.org/MONDO:0009480 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ランドウ・クレフナー症候群 Landau-Kleffner syndrome https://monarchinitiative.org/MONDO:0009509 NANDO:1200424 http://nanbyodata.jp/ontology/NANDO_1200424 リンパ球性間質性肺炎 Lymphoid interstitial pneumonia MONDO:0009537 http://www.w3.org/2004/02/skos/core#exactMatch リンパ球性間質性肺炎 lymphoid interstitial pneumonia https://monarchinitiative.org/MONDO:0009537 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch マリネスコ・シェーグレン症候群 Marinesco-Sjogren syndrome https://monarchinitiative.org/MONDO:0009567 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ナイミーヘン染色体不安定症候群 Nijmegen breakage syndrome https://monarchinitiative.org/MONDO:0009623 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 筋ジストロフィー-ジストログリカノパチー（脳および眼の奇形を伴う先天性）, A型, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 https://monarchinitiative.org/MONDO:0009678 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ミエロペルオキシダーゼ欠損症 myeloperoxidase deficiency https://monarchinitiative.org/MONDO:0009694 NANDO:1200943 http://nanbyodata.jp/ontology/NANDO_1200943 アッシャー症候群2型 Usher syndrome Type II MONDO:0016484 http://www.w3.org/2004/02/skos/core#exactMatch アッシャー症候群2型 Usher syndrome type 2 https://monarchinitiative.org/MONDO:0016484 NANDO: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:0000188 http://www.w3.org/2004/02/skos/core#exactMatch GLUT1欠損症 GLUT1 deficiency syndrome https://monarchinitiative.org/MONDO:0000188 NANDO:1200932 http://nanbyodata.jp/ontology/NANDO_1200932 卵黄様黄斑ジストロフィー Vitelliform macular dystrophy MONDO:0000390 http://www.w3.org/2004/02/skos/core#exactMatch 卵黄様黄斑ジストロフィー vitelliform macular dystrophy https://monarchinitiative.org/MONDO:0000390 NANDO:1200936 http://nanbyodata.jp/ontology/NANDO_1200936 錐体ジストロフィー Cone dystrophy MONDO:0000455 http://www.w3.org/2004/02/skos/core#exactMatch 錐体ジストロフィー cone dystrophy https://monarchinitiative.org/MONDO:0000455 NANDO:1200775 http://nanbyodata.jp/ontology/NANDO_1200775 副甲状腺機能低下症 Hypoparathyroidism MONDO:0001220 http://www.w3.org/2004/02/skos/core#exactMatch 副甲状腺機能低下症 hypoparathyroidism https://monarchinitiative.org/MONDO:0001220 NANDO:1200746 http://nanbyodata.jp/ontology/NANDO_1200746 肺胞蛋白症 Pulmonary alveolar proteinosis MONDO:0001437 http://www.w3.org/2004/02/skos/core#exactMatch 肺胞蛋白症 pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0001437 NANDO:1200723 http://nanbyodata.jp/ontology/NANDO_1200723 半月体形成性糸球体腎炎 Crescentic glomerulonephritis MONDO:0001645 http://www.w3.org/2004/02/skos/core#exactMatch 半月体形成性糸球体腎炎 crescentic glomerulonephritis https://monarchinitiative.org/MONDO:0001645 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://www.w3.org/2004/02/skos/core#exactMatch 赤芽球性プロトポルフィリン症 erythropoietic protoporphyria https://monarchinitiative.org/MONDO:0001676 NANDO:1200793 http://nanbyodata.jp/ontology/NANDO_1200793 メチルマロン酸血症 Methylmalonic acidemia MONDO:0002012 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸血症 methylmalonic acidemia https://monarchinitiative.org/MONDO:0002012 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:0003136 http://www.w3.org/2004/02/skos/core#exactMatch 抗基底膜型糸球体腎炎 anti-basement membrane glomerulonephritis https://monarchinitiative.org/MONDO:0003136 NANDO:1200802 http://nanbyodata.jp/ontology/NANDO_1200802 尿素サイクル異常症 Urea cycle disorder MONDO:0004739 http://www.w3.org/2004/02/skos/core#exactMatch 尿素サイクル異常症 urea cycle disorder https://monarchinitiative.org/MONDO:0004739 NANDO:1200705 http://nanbyodata.jp/ontology/NANDO_1200705 左心低形成症候群 Hypoplastic left heart syndrome MONDO:0004933 http://www.w3.org/2004/02/skos/core#exactMatch 左心低形成症候群 hypoplastic left heart syndrome https://monarchinitiative.org/MONDO:0004933 NANDO:1200870 http://nanbyodata.jp/ontology/NANDO_1200870 強直性脊椎炎 Ankylosing spondylitis MONDO:0005306 http://www.w3.org/2004/02/skos/core#exactMatch 強直性脊椎炎 ankylosing spondylitis https://monarchinitiative.org/MONDO:0005306 NANDO:1200722 http://nanbyodata.jp/ontology/NANDO_1200722 巣状分節性糸球体硬化症 Focal segmental glomerulosclerosis MONDO:0005363 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性巣状分節性糸球体硬化症 inherited focal segmental glomerulosclerosis https://monarchinitiative.org/MONDO:0005363 NANDO:1200721 http://nanbyodata.jp/ontology/NANDO_1200721 膜性腎症 Membranous nephropathy MONDO:0005376 http://www.w3.org/2004/02/skos/core#exactMatch 膜性糸球体腎炎 membranous glomerulonephritis https://monarchinitiative.org/MONDO:0005376 NANDO:1200911 http://nanbyodata.jp/ontology/NANDO_1200911 先天性横隔膜ヘルニア Congenital diaphragmatic hernia MONDO:0005711 http://www.w3.org/2004/02/skos/core#exactMatch 先天性横隔膜ヘルニア congenital diaphragmatic hernia https://monarchinitiative.org/MONDO:0005711 NANDO:1200963 http://nanbyodata.jp/ontology/NANDO_1200963 先天性僧帽弁狭窄症 Congenital mitral stenosis MONDO:0005852 http://www.w3.org/2004/02/skos/core#exactMatch 僧帽弁狭窄症 mitral valve stenosis https://monarchinitiative.org/MONDO:0005852 NANDO:1200859 http://nanbyodata.jp/ontology/NANDO_1200859 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0006536 http://www.w3.org/2004/02/skos/core#exactMatch 先天性全身性リポジストロフィー congenital generalized lipodystrophy https://monarchinitiative.org/MONDO:0006536 NANDO:1200858 http://nanbyodata.jp/ontology/NANDO_1200858 脂肪萎縮症 Lipodystrophy MONDO:0006573 http://www.w3.org/2004/02/skos/core#exactMatch リポジストロフィー lipodystrophy https://monarchinitiative.org/MONDO:0006573 NANDO:1200720 http://nanbyodata.jp/ontology/NANDO_1200720 微小変化型ネフローゼ症候群 Minimal change nephrotic syndrome MONDO:0006835 http://www.w3.org/2004/02/skos/core#exactMatch リポイドネフローゼ minimal change disease https://monarchinitiative.org/MONDO:0006835 NANDO:1200877 http://nanbyodata.jp/ontology/NANDO_1200877 軟骨無形成症 Achondroplasia MONDO:0007037 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨無形成症 achondroplasia https://monarchinitiative.org/MONDO:0007037 NANDO:1200888 http://nanbyodata.jp/ontology/NANDO_1200888 先天性赤血球形成異常性貧血 Type III Congenital dyserythropoietic anemia type III MONDO:0007109 http://www.w3.org/2004/02/skos/core#exactMatch 先天性赤血球形成異常性貧血III型 congenital dyserythropoietic anemia type 3 https://monarchinitiative.org/MONDO:0007109 NANDO:1200686 http://nanbyodata.jp/ontology/NANDO_1200686 アンジェルマン症候群 Angelman syndrome MONDO:0007113 http://www.w3.org/2004/02/skos/core#exactMatch アンジェルマン症候群 Angelman syndrome https://monarchinitiative.org/MONDO:0007113 NANDO:1200918 http://nanbyodata.jp/ontology/NANDO_1200918 アラジール症候群 Alagille syndrome MONDO:0007318 http://www.w3.org/2004/02/skos/core#exactMatch アラジール症候群 Alagille syndrome https://monarchinitiative.org/MONDO:0007318 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 遺伝性コプロポルフィリン症 hereditary coproporphyria https://monarchinitiative.org/MONDO:0007369 NANDO:1200684 http://nanbyodata.jp/ontology/NANDO_1200684 5p欠失症候群 5p deletion syndrome MONDO:0007404 http://www.w3.org/2004/02/skos/core#exactMatch ネコ鳴き症候群 Cri-du-chat syndrome https://monarchinitiative.org/MONDO:0007404 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ゴーハム・スタウト病 Gorham-Stout disease https://monarchinitiative.org/MONDO:0007414 NANDO:1200871 http://nanbyodata.jp/ontology/NANDO_1200871 進行性骨化性線維異形成症 Fibrodysplasia ossificans progressiva MONDO:0007606 http://www.w3.org/2004/02/skos/core#exactMatch 進行性骨化性線維異形成症 fibrodysplasia ossificans progressiva https://monarchinitiative.org/MONDO:0007606 NANDO:1200884 http://nanbyodata.jp/ontology/NANDO_1200884 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://www.w3.org/2004/02/skos/core#exactMatch 血管骨肥大症候群 angioosteohypertrophic syndrome https://monarchinitiative.org/MONDO:0007864 NANDO:1200921 http://nanbyodata.jp/ontology/NANDO_1200921 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性慢性膵炎 hereditary chronic pancreatitis https://monarchinitiative.org/MONDO:0008185 NANDO:1200901 http://nanbyodata.jp/ontology/NANDO_1200901 クロンカイト・カナダ症候群 Cronkhite-Canada syndrome MONDO:0008283 http://www.w3.org/2004/02/skos/core#exactMatch クロンカイト・カナダ症候群 Cronkhite-Canada syndrome https://monarchinitiative.org/MONDO:0008283 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 急性間欠性ポルフィリン症 acute intermittent porphyria https://monarchinitiative.org/MONDO:0008294 NANDO:1200814 http://nanbyodata.jp/ontology/NANDO_1200814 異型ポルフィリン症 Variegate porphyria MONDO:0008297 http://www.w3.org/2004/02/skos/core#exactMatch 異型ポルフィリン症 variegate porphyria https://monarchinitiative.org/MONDO:0008297 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 心室中隔欠損を伴う肺動脈閉鎖症 pulmonary atresia with ventricular septal defect https://monarchinitiative.org/MONDO:0008343 NANDO:1200751 http://nanbyodata.jp/ontology/NANDO_1200751 肺胞低換気症候群 Alveolar hypoventilation syndrome MONDO:0008346 http://www.w3.org/2004/02/skos/core#exactMatch 肺血鉄症 pulmonary hemosiderosis https://monarchinitiative.org/MONDO:0008346 NANDO:1200687 http://nanbyodata.jp/ontology/NANDO_1200687 スミス・マギニス症候群 Smith-Magenis syndrome MONDO:0008434 http://www.w3.org/2004/02/skos/core#exactMatch スミス・マゲニス症候群 Smith-Magenis syndrome https://monarchinitiative.org/MONDO:0008434 NANDO:1200709 http://nanbyodata.jp/ontology/NANDO_1200709 ファロー四徴症 Tetralogy of Fallot MONDO:0008542 http://www.w3.org/2004/02/skos/core#exactMatch ファロー四徴症 tetralogy of fallot https://monarchinitiative.org/MONDO:0008542 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症1型 thanatophoric dysplasia type 1 https://monarchinitiative.org/MONDO:0008546 NANDO:1200876 http://nanbyodata.jp/ontology/NANDO_1200876 タナトフォリック骨異形成症2型 Thanatophoric dysplasia type 2 MONDO:0008547 http://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症2型 thanatophoric dysplasia type 2 https://monarchinitiative.org/MONDO:0008547 NANDO:1200683 http://nanbyodata.jp/ontology/NANDO_1200683 4p欠失症候群 4p deletion syndrome MONDO:0008684 http://www.w3.org/2004/02/skos/core#exactMatch ウォルフ・ヒルシュホーン症候群 Wolf-Hirschhorn syndrome https://monarchinitiative.org/MONDO:0008684 NANDO:1200857 http://nanbyodata.jp/ontology/NANDO_1200857 無βリポタンパク血症 Abetalipoproteinemia MONDO:0008692 http://www.w3.org/2004/02/skos/core#exactMatch 無ベータリポ蛋白血症 abetalipoproteinemia https://monarchinitiative.org/MONDO:0008692 NANDO:1200854 http://nanbyodata.jp/ontology/NANDO_1200854 タンジール病 Tangier disease MONDO:0008783 http://www.w3.org/2004/02/skos/core#exactMatch タンジール病 Tangier disease https://monarchinitiative.org/MONDO:0008783 NANDO:1200807 http://nanbyodata.jp/ontology/NANDO_1200807 アルギニン血症 Argininemia MONDO:0008814 http://www.w3.org/2004/02/skos/core#exactMatch アルギナーゼ欠損症 arginase deficiency https://monarchinitiative.org/MONDO:0008814 NANDO:1200806 http://nanbyodata.jp/ontology/NANDO_1200806 アルギニノコハク酸尿症 Argininosuccinic aciduria MONDO:0008815 http://www.w3.org/2004/02/skos/core#exactMatch アルギニノコハク酸尿症 argininosuccinic aciduria https://monarchinitiative.org/MONDO:0008815 NANDO:1200853 http://nanbyodata.jp/ontology/NANDO_1200853 シトステロール血症 Sitosterolemia MONDO:0008863 http://www.w3.org/2004/02/skos/core#exactMatch シトステロール血症 sitosterolemia https://monarchinitiative.org/MONDO:0008863 NANDO:1200913 http://nanbyodata.jp/ontology/NANDO_1200913 胆道閉鎖症 Biliary atresia MONDO:0008867 http://www.w3.org/2004/02/skos/core#exactMatch 胆道閉鎖症 biliary atresia https://monarchinitiative.org/MONDO:0008867 NANDO:1200856 http://nanbyodata.jp/ontology/NANDO_1200856 脳腱黄色腫症 Cerebrotendinous xanthomatosis MONDO:0008948 http://www.w3.org/2004/02/skos/core#exactMatch 脳腱黄色腫症 cerebrotendinous xanthomatosis https://monarchinitiative.org/MONDO:0008948 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 根性点状軟骨異形成症1型 rhizomelic chondrodysplasia punctata type 1 https://monarchinitiative.org/MONDO:0008972 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 中心性輪紋状脈絡膜萎縮症 central areolar choroidal dystrophy https://monarchinitiative.org/MONDO:0008982 NANDO:1200805 http://nanbyodata.jp/ontology/NANDO_1200805 古典型シトルリン血症 Classic citrullinemia MONDO:0008988 http://www.w3.org/2004/02/skos/core#exactMatch シトルリン血症I型 citrullinemia type I https://monarchinitiative.org/MONDO:0008988 NANDO:1200922 http://nanbyodata.jp/ontology/NANDO_1200922 嚢胞性線維症 Cystic fibrosis MONDO:0009061 http://www.w3.org/2004/02/skos/core#exactMatch 嚢胞性線維症 cystic fibrosis https://monarchinitiative.org/MONDO:0009061 NANDO:1200809 http://nanbyodata.jp/ontology/NANDO_1200809 リジン尿性蛋白不耐症 Lysinuric protein intolerance MONDO:0009109 http://www.w3.org/2004/02/skos/core#exactMatch リジン尿性蛋白不耐症 lysinuric protein intolerance https://monarchinitiative.org/MONDO:0009109 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 根性点状軟骨異形成症2型 rhizomelic chondrodysplasia punctata type 2 https://monarchinitiative.org/MONDO:0009112 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 先天性赤血球形成異常性貧血II型 congenital dyserythropoietic anemia type 2 https://monarchinitiative.org/MONDO:0009134 NANDO:1200711 http://nanbyodata.jp/ontology/NANDO_1200711 エプスタイン病 Ebstein's anomaly MONDO:0009144 http://www.w3.org/2004/02/skos/core#exactMatch エプスタイン病 Ebstein anomaly https://monarchinitiative.org/MONDO:0009144 NANDO:1200810 http://nanbyodata.jp/ontology/NANDO_1200810 先天性葉酸吸収不全症 Hereditary folate malabsorption MONDO:0009238 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性葉酸吸収不良症 hereditary folate malabsorption https://monarchinitiative.org/MONDO:0009238 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://www.w3.org/2004/02/skos/core#exactMatch 古典型ガラクトース血症 classic galactosemia https://monarchinitiative.org/MONDO:0009258 NANDO:1200800 http://nanbyodata.jp/ontology/NANDO_1200800 グルタル酸血症1型 Glutaric acidemia type 1 MONDO:0009281 http://www.w3.org/2004/02/skos/core#exactMatch グルタリルCoA脱水素酵素欠損症 glutaryl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0009281 NANDO:1200801 http://nanbyodata.jp/ontology/NANDO_1200801 グルタル酸血症2型 Glutaric acidemia type 2 MONDO:0009282 http://www.w3.org/2004/02/skos/core#exactMatch マルチプルアシルCoA脱水素酵素欠損症 multiple acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0009282 NANDO:1200841 http://nanbyodata.jp/ontology/NANDO_1200841 肝型糖原病Ib型 Hepatic glycogen storage disease type Ib MONDO:0009288 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病Ib glycogen storage disease Ib https://monarchinitiative.org/MONDO:0009288 NANDO:1200825 http://nanbyodata.jp/ontology/NANDO_1200825 筋型糖原病II型 Glycogen storage diseases type II MONDO:0009290 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病II glycogen storage disease II https://monarchinitiative.org/MONDO:0009290 NANDO:1200826 http://nanbyodata.jp/ontology/NANDO_1200826 筋型糖原病III型 Glycogen storage diseases type III MONDO:0009291 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病III glycogen storage disease III https://monarchinitiative.org/MONDO:0009291 NANDO:1200827 http://nanbyodata.jp/ontology/NANDO_1200827 筋型糖原病IV型 Glycogen storage diseases type IV MONDO:0009292 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損による糖原病 glycogen storage disease due to glycogen branching enzyme deficiency https://monarchinitiative.org/MONDO:0009292 NANDO:1200828 http://nanbyodata.jp/ontology/NANDO_1200828 筋型糖原病V型 Glycogen storage diseases type V MONDO:0009293 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病V glycogen storage disease V https://monarchinitiative.org/MONDO:0009293 NANDO:1200846 http://nanbyodata.jp/ontology/NANDO_1200846 肝型糖原病VI型 Hepatic glycogen storage disease type VI MONDO:0009294 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VI glycogen storage disease VI https://monarchinitiative.org/MONDO:0009294 NANDO:1200829 http://nanbyodata.jp/ontology/NANDO_1200829 筋型糖原病VII型 Glycogen storage diseases type VII MONDO:0009295 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VII glycogen storage disease VII https://monarchinitiative.org/MONDO:0009295 NANDO:1200718 http://nanbyodata.jp/ontology/NANDO_1200718 抗糸球体基底膜腎炎 Goodpasture syndrome MONDO:0009303 http://www.w3.org/2004/02/skos/core#exactMatch 抗糸球体基底膜抗体症 anti-glomerular basement membrane disease https://monarchinitiative.org/MONDO:0009303 NANDO:1200803 http://nanbyodata.jp/ontology/NANDO_1200803 CPSI欠損症 Carbamoyl phosphate synthetase I deficiency MONDO:0009376 http://www.w3.org/2004/02/skos/core#exactMatch カルバミルリン酸合成酵素I欠損症 carbamoyl phosphate synthetase I deficiency disease https://monarchinitiative.org/MONDO:0009376 NANDO:1200808 http://nanbyodata.jp/ontology/NANDO_1200808 NAGS欠損症 NAGS deficiency MONDO:0009377 http://www.w3.org/2004/02/skos/core#exactMatch Nアセチルグルタミン酸合成酵素欠損による高アンモニア血症 hyperammonemia due to N-acetylglutamate synthase deficiency https://monarchinitiative.org/MONDO:0009377 NANDO:1200824 http://nanbyodata.jp/ontology/NANDO_1200824 筋型糖原病0型 Glycogen storage diseases type 0 MONDO:0009414 http://www.w3.org/2004/02/skos/core#exactMatch 肝グリコーゲン合成酵素欠損による糖原病 glycogen storage disorder due to hepatic glycogen synthase deficiency https://monarchinitiative.org/MONDO:0009414 NANDO:1200798 http://nanbyodata.jp/ontology/NANDO_1200798 イソ吉草酸血症 Isovaleric acidemia MONDO:0009475 http://www.w3.org/2004/02/skos/core#exactMatch イソ吉草酸血症 isovaleric acidemia https://monarchinitiative.org/MONDO:0009475 NANDO:1200791 http://nanbyodata.jp/ontology/NANDO_1200791 メープルシロップ尿症 Maple syrup urine disease MONDO:0009563 http://www.w3.org/2004/02/skos/core#exactMatch メープルシロップ尿症 maple syrup urine disease https://monarchinitiative.org/MONDO:0009563 NANDO:1200864 http://nanbyodata.jp/ontology/NANDO_1200864 家族性地中海熱典型例 Typical familial Mediterranean fever MONDO:0009572 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性家族性地中海熱 autosomal recessive familial Mediterranean fever https://monarchinitiative.org/MONDO:0009572 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch メチルマロニルCoAムターゼ欠損によるメチルマロン酸尿症 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency https://monarchinitiative.org/MONDO:0009612 NANDO:1200795 http://nanbyodata.jp/ontology/NANDO_1200795 コバラミン代謝異常 cblA Methylmalonic acidemia cblA type MONDO:0009613 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸血症cblA型 methylmalonic aciduria, cblA type https://monarchinitiative.org/MONDO:0009613 NANDO:1200796 http://nanbyodata.jp/ontology/NANDO_1200796 コバラミン代謝異常 cblB Methylmalonic acidemia cblB type MONDO:0009614 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸血症cblB型 methylmalonic aciduria, cblB type https://monarchinitiative.org/MONDO:0009614 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ギャロウェイ・モワト症候群 Galloway-Mowat syndrome https://monarchinitiative.org/MONDO:0009627 NANDO:1200822 http://nanbyodata.jp/ontology/NANDO_1200822 ビオチニダーゼ欠損症 Biotinidase deficiency MONDO:0009665 http://www.w3.org/2004/02/skos/core#exactMatch ビオチニダーゼ欠損症 biotinidase deficiency https://monarchinitiative.org/MONDO:0009665 NANDO:1200821 http://nanbyodata.jp/ontology/NANDO_1200821 ホロカルボキシラーゼ合成酵素欠損症 Holocarboxylase synthetase deficiency MONDO:0009666 http://www.w3.org/2004/02/skos/core#exactMatch ホロカルボキシラーゼ合成酵素欠損症 holocarboxylase synthetase deficiency https://monarchinitiative.org/MONDO:0009666 NANDO:1200955 http://nanbyodata.jp/ontology/NANDO_1200955 ラフォラ病 Lafora disease MONDO:0009697 http://www.w3.org/2004/02/skos/core#exactMatch ラフォラ病 Lafora disease https://monarchinitiative.org/MONDO:0009697 NANDO:1200954 http://nanbyodata.jp/ontology/NANDO_1200954 ウンフェルリヒト・ルントボルグ病 Unverricht-Lundborg disease MONDO:0009698 http://www.w3.org/2004/02/skos/core#exactMatch ウンフェルリヒト・ルントボルグ病 Unverricht-Lundborg syndrome https://monarchinitiative.org/MONDO:0009698 NANDO:1201071 http://nanbyodata.jp/ontology/NANDO_1201071 多小脳回 Polymicrogyria MONDO:0000087 http://www.w3.org/2004/02/skos/core#exactMatch 多小脳回 polymicrogyria https://monarchinitiative.org/MONDO:0000087 NANDO:2100135 http://nanbyodata.jp/ontology/NANDO_2100135 思春期早発症 Precocious puberty MONDO:0000088 http://www.w3.org/2004/02/skos/core#exactMatch 思春期早発症 precocious puberty https://monarchinitiative.org/MONDO:0000088 NANDO:2100257 http://nanbyodata.jp/ontology/NANDO_2100257 ポリポーシス Polyposis MONDO:0000147 http://www.w3.org/2004/02/skos/core#exactMatch ポリポーシス polyposis https://monarchinitiative.org/MONDO:0000147 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://www.w3.org/2004/02/skos/core#exactMatch 脳クレアチン欠乏症候群 cerebral creatine deficiency syndrome https://monarchinitiative.org/MONDO:0000456 NANDO:2200076 http://nanbyodata.jp/ontology/NANDO_2200076 唾液腺癌 Salivary grand carcinoma MONDO:0000521 http://www.w3.org/2004/02/skos/core#exactMatch 唾液腺癌 salivary gland carcinoma https://monarchinitiative.org/MONDO:0000521 NANDO:2200002 http://nanbyodata.jp/ontology/NANDO_2200002 成熟B細胞急性リンパ性白血病 Mature B-cell lymphoblastic leukemia MONDO:0000872 http://www.w3.org/2004/02/skos/core#exactMatch 小児B細胞性急性リンパ芽球性白血病 B-cell childhood acute lymphoblastic leukemia https://monarchinitiative.org/MONDO:0000872 NANDO:2100177 http://nanbyodata.jp/ontology/NANDO_2100177 赤芽球癆 Pure red cell aplasia MONDO:0001705 http://www.w3.org/2004/02/skos/core#exactMatch 赤芽球癆 pure red-cell aplasia https://monarchinitiative.org/MONDO:0001705 NANDO:2200074 http://nanbyodata.jp/ontology/NANDO_2200074 甲状腺癌 Thyroid cancer MONDO:0002108 http://www.w3.org/2004/02/skos/core#exactMatch 甲状腺癌 thyroid cancer https://monarchinitiative.org/MONDO:0002108 NANDO:2100140 http://nanbyodata.jp/ontology/NANDO_2100140 性分化疾患 Disorders of sex development MONDO:0002145 http://www.w3.org/2004/02/skos/core#exactMatch 性分化障害 disorder of sexual differentiation https://monarchinitiative.org/MONDO:0002145 NANDO:1201081 http://nanbyodata.jp/ontology/NANDO_1201081 先天性プロテインS欠乏症 Protein S deficiency MONDO:0002304 http://www.w3.org/2004/02/skos/core#exactMatch プロテインS欠乏症 protein S deficiency https://monarchinitiative.org/MONDO:0002304 NANDO:1201018 http://nanbyodata.jp/ontology/NANDO_1201018 肝型糖原病I型 Hepatic glycogen storage disease type I MONDO:0002413 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病I glycogen storage disease I https://monarchinitiative.org/MONDO:0002413 NANDO:2100165 http://nanbyodata.jp/ontology/NANDO_2100165 ライソゾーム病 Lysosomal storage disease MONDO:0002561 http://www.w3.org/2004/02/skos/core#exactMatch ライソゾーム蓄積症 lysosomal storage disease https://monarchinitiative.org/MONDO:0002561 NANDO:2100005 http://nanbyodata.jp/ontology/NANDO_2100005 組織球症 Histiocytosis MONDO:0002637 http://www.w3.org/2004/02/skos/core#exactMatch 組織球症 histiocytosis https://monarchinitiative.org/MONDO:0002637 NANDO:2100007 http://nanbyodata.jp/ontology/NANDO_2100007 中枢神経系腫瘍 Central nervous system tumors MONDO:0002714 http://www.w3.org/2004/02/skos/core#exactMatch 中枢神経系の腫瘍 central nervous system cancer https://monarchinitiative.org/MONDO:0002714 NANDO:2200057 http://nanbyodata.jp/ontology/NANDO_2200057 悪性ラブドイド腫瘍 Malignant rhabdoid tumour MONDO:0002728 http://www.w3.org/2004/02/skos/core#exactMatch ラブドイド腫瘍 rhabdoid tumor https://monarchinitiative.org/MONDO:0002728 NANDO:2100105 http://nanbyodata.jp/ontology/NANDO_2100105 心臓弁膜症 Valvular heart disease MONDO:0002869 http://www.w3.org/2004/02/skos/core#exactMatch 心弁膜障害 heart valve disorder https://monarchinitiative.org/MONDO:0002869 NANDO:2200062 http://nanbyodata.jp/ontology/NANDO_2200062 明細胞肉腫 Clear cell sarcoma MONDO:0002926 http://www.w3.org/2004/02/skos/core#exactMatch 明細胞肉腫 clear cell sarcoma https://monarchinitiative.org/MONDO:0002926 NANDO:2200066 http://nanbyodata.jp/ontology/NANDO_2200066 未分化胚細胞腫 Dysgerminoma MONDO:0003002 http://www.w3.org/2004/02/skos/core#exactMatch 未分化胚細胞腫 dysgerminoma https://monarchinitiative.org/MONDO:0003002 NANDO:2100183 http://nanbyodata.jp/ontology/NANDO_2100183 遺伝性溶血性貧血 Hereditary hemolytic anemia MONDO:0003689 http://www.w3.org/2004/02/skos/core#exactMatch 家族性溶血性貧血 familial hemolytic anemia https://monarchinitiative.org/MONDO:0003689 NANDO:2100172 http://nanbyodata.jp/ontology/NANDO_2100172 結合組織異常症 Connective tissue disorder MONDO:0003900 http://www.w3.org/2004/02/skos/core#exactMatch 結合組織障害 connective tissue disorder https://monarchinitiative.org/MONDO:0003900 NANDO:1201038 http://nanbyodata.jp/ontology/NANDO_1201038 ホモシスチン尿症 Homocystinuria MONDO:0004737 http://www.w3.org/2004/02/skos/core#exactMatch ホモシスチン尿症 homocystinuria https://monarchinitiative.org/MONDO:0004737 NANDO:2100117 http://nanbyodata.jp/ontology/NANDO_2100117 尿崩症 Diabetes insipidus MONDO:0004782 http://www.w3.org/2004/02/skos/core#exactMatch 尿崩症 diabetes insipidus https://monarchinitiative.org/MONDO:0004782 NANDO:2200024 http://nanbyodata.jp/ontology/NANDO_2200024 ホジキンリンパ腫 Hodgkin lymphoma MONDO:0004952 http://www.w3.org/2004/02/skos/core#exactMatch ホジキンリンパ腫 Hodgkins lymphoma https://monarchinitiative.org/MONDO:0004952 NANDO:2200003 http://nanbyodata.jp/ontology/NANDO_2200003 T細胞急性リンパ性白血病 T-cell lymphoblastic leukemia MONDO:0004963 http://www.w3.org/2004/02/skos/core#exactMatch T細胞性急性リンパ芽球性白血病 T-cell acute lymphoblastic leukemia https://monarchinitiative.org/MONDO:0004963 NANDO:2200028 http://nanbyodata.jp/ontology/NANDO_2200028 末梢性T細胞リンパ腫-非特定型 Peripheral T-cell lymphoma, not otherwise specified MONDO:0004964 http://www.w3.org/2004/02/skos/core#exactMatch 末梢性T細胞リンパ腫, 非特定型 peripheral T-cell lymphoma, not otherwise specified https://monarchinitiative.org/MONDO:0004964 NANDO:2200078 http://nanbyodata.jp/ontology/NANDO_2200078 褐色細胞腫 Pheochromocytoma MONDO:0004974 http://www.w3.org/2004/02/skos/core#exactMatch 副腎褐色細胞腫 adrenal gland pheochromocytoma https://monarchinitiative.org/MONDO:0004974 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://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 https://monarchinitiative.org/MONDO:0004977 NANDO:2200051 http://nanbyodata.jp/ontology/NANDO_2200051 軟骨芽細胞腫 Chondroblastoma MONDO:0004997 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨芽細胞腫 chondroblastoma https://monarchinitiative.org/MONDO:0004997 NANDO:2200044 http://nanbyodata.jp/ontology/NANDO_2200044 腎明細胞肉腫 Clear cell sarcoma of the kidney MONDO:0005006 http://www.w3.org/2004/02/skos/core#exactMatch 腎明細胞肉腫 clear cell sarcoma of kidney https://monarchinitiative.org/MONDO:0005006 NANDO:2100157 http://nanbyodata.jp/ontology/NANDO_2100157 糖尿病 Diabetes MONDO:0005015 http://www.w3.org/2004/02/skos/core#exactMatch 糖尿病 diabetes mellitus https://monarchinitiative.org/MONDO:0005015 NANDO:2200041 http://nanbyodata.jp/ontology/NANDO_2200041 神経節芽腫 Ganglioneuroblastoma MONDO:0005035 http://www.w3.org/2004/02/skos/core#exactMatch 神経節神経芽腫 ganglioneuroblastoma https://monarchinitiative.org/MONDO:0005035 NANDO:2100202 http://nanbyodata.jp/ontology/NANDO_2100202 免疫疾患 Immune system disease MONDO:0005046 http://www.w3.org/2004/02/skos/core#exactMatch 免疫系異常 immune system disorder https://monarchinitiative.org/MONDO:0005046 NANDO:2200064 http://nanbyodata.jp/ontology/NANDO_2200064 平滑筋肉腫 Leiomyosarcoma MONDO:0005058 http://www.w3.org/2004/02/skos/core#exactMatch 平滑筋肉腫 leiomyosarcoma https://monarchinitiative.org/MONDO:0005058 NANDO:2100002 http://nanbyodata.jp/ontology/NANDO_2100002 白血病 Leukemia MONDO:0005059 http://www.w3.org/2004/02/skos/core#exactMatch 白血病 leukemia https://monarchinitiative.org/MONDO:0005059 NANDO:2200065 http://nanbyodata.jp/ontology/NANDO_2200065 脂肪肉腫 Liposarcoma MONDO:0005060 http://www.w3.org/2004/02/skos/core#exactMatch 脂肪肉腫 liposarcoma https://monarchinitiative.org/MONDO:0005060 NANDO:2100004 http://nanbyodata.jp/ontology/NANDO_2100004 リンパ腫 Lymphoma MONDO:0005062 http://www.w3.org/2004/02/skos/core#exactMatch リンパ腫 lymphoma https://monarchinitiative.org/MONDO:0005062 NANDO:2200040 http://nanbyodata.jp/ontology/NANDO_2200040 神経芽腫 Neuroblastoma MONDO:0005072 http://www.w3.org/2004/02/skos/core#exactMatch 神経芽腫 neuroblastoma https://monarchinitiative.org/MONDO:0005072 NANDO:2200045 http://nanbyodata.jp/ontology/NANDO_2200045 腎細胞癌 Renal cell carcinoma MONDO:0005086 http://www.w3.org/2004/02/skos/core#exactMatch 腎細胞癌 renal cell carcinoma https://monarchinitiative.org/MONDO:0005086 NANDO:2100281 http://nanbyodata.jp/ontology/NANDO_2100281 皮膚疾患群 Skin disease MONDO:0005093 http://www.w3.org/2004/02/skos/core#exactMatch 皮膚障害 skin disorder https://monarchinitiative.org/MONDO:0005093 NANDO:2200058 http://nanbyodata.jp/ontology/NANDO_2200058 未分化肉腫 Undifferentiated sarcoma MONDO:0005102 http://www.w3.org/2004/02/skos/core#exactMatch 未分化（胎児性）肉腫 undifferentiated (embryonal) sarcoma https://monarchinitiative.org/MONDO:0005102 NANDO:2200077 http://nanbyodata.jp/ontology/NANDO_2200077 悪性黒色腫 Malignant melanoma MONDO:0005105 http://www.w3.org/2004/02/skos/core#exactMatch 黒色腫 melanoma https://monarchinitiative.org/MONDO:0005105 NANDO:2100109 http://nanbyodata.jp/ontology/NANDO_2100109 内分泌疾患 Endocrine disease MONDO:0005151 http://www.w3.org/2004/02/skos/core#exactMatch 内分泌系障害 endocrine system disorder https://monarchinitiative.org/MONDO:0005151 NANDO:2100110 http://nanbyodata.jp/ontology/NANDO_2100110 下垂体機能低下症 Hypopituitarism MONDO:0005152 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体機能低下症 hypopituitarism https://monarchinitiative.org/MONDO:0005152 NANDO:2200060 http://nanbyodata.jp/ontology/NANDO_2200060 線維肉腫 Fibrosarcoma MONDO:0005164 http://www.w3.org/2004/02/skos/core#exactMatch 線維肉腫 fibrosarcoma https://monarchinitiative.org/MONDO:0005164 NANDO:2200070 http://nanbyodata.jp/ontology/NANDO_2200070 絨毛癌 Choriocarcinoma MONDO:0005207 http://www.w3.org/2004/02/skos/core#exactMatch 絨毛癌 choriocarcinoma https://monarchinitiative.org/MONDO:0005207 NANDO:2200056 http://nanbyodata.jp/ontology/NANDO_2200056 横紋筋肉腫 Rhabdomyosarcoma MONDO:0005212 http://www.w3.org/2004/02/skos/core#exactMatch 横紋筋肉腫 rhabdomyosarcoma https://monarchinitiative.org/MONDO:0005212 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://www.w3.org/2004/02/skos/core#exactMatch 最未分化型急性骨髄性白血病 acute myeloid leukemia with minimal differentiation https://monarchinitiative.org/MONDO:0005223 NANDO:2200005 http://nanbyodata.jp/ontology/NANDO_2200005 成熟を伴わない急性骨髄性白血病 Acute myeloid leukemia without maturation MONDO:0005224 http://www.w3.org/2004/02/skos/core#exactMatch 成熟を伴わない急性骨髄性白血病 acute myeloblastic leukemia without maturation https://monarchinitiative.org/MONDO:0005224 NANDO:2100259 http://nanbyodata.jp/ontology/NANDO_2100259 炎症性腸疾患 Inflammatory bowel disease MONDO:0005265 http://www.w3.org/2004/02/skos/core#exactMatch 炎症性腸疾患 inflammatory bowel disease https://monarchinitiative.org/MONDO:0005265 NANDO:2100009 http://nanbyodata.jp/ontology/NANDO_2100009 ネフローゼ症候群 Nephrotic syndrome MONDO:0005377 http://www.w3.org/2004/02/skos/core#exactMatch ネフローゼ症候群 nephrotic syndrome https://monarchinitiative.org/MONDO:0005377 NANDO:2100291 http://nanbyodata.jp/ontology/NANDO_2100291 骨系統疾患 Bone disease MONDO:0005381 http://www.w3.org/2004/02/skos/core#exactMatch 骨障害 bone disorder https://monarchinitiative.org/MONDO:0005381 NANDO:2100294 http://nanbyodata.jp/ontology/NANDO_2100294 脈管系疾患 Vascular disease MONDO:0005385 http://www.w3.org/2004/02/skos/core#exactMatch 血管障害 vascular disorder https://monarchinitiative.org/MONDO:0005385 NANDO:2100139 http://nanbyodata.jp/ontology/NANDO_2100139 高ゴナドトロピン性性腺機能低下症 Hypergonadotropic hypogonadism MONDO:0005387 http://www.w3.org/2004/02/skos/core#exactMatch 原発性卵巣機能不全 primary ovarian failure https://monarchinitiative.org/MONDO:0005387 NANDO:2100120 http://nanbyodata.jp/ontology/NANDO_2100120 甲状腺機能低下症 Hypothyroidism MONDO:0005420 http://www.w3.org/2004/02/skos/core#exactMatch 甲状腺機能低下症 hypothyroidism https://monarchinitiative.org/MONDO:0005420 NANDO:2200067 http://nanbyodata.jp/ontology/NANDO_2200067 胎児性癌 Embryonal carcinoma MONDO:0005440 http://www.w3.org/2004/02/skos/core#exactMatch 胎児性癌 embryonal carcinoma https://monarchinitiative.org/MONDO:0005440 NANDO:2100049 http://nanbyodata.jp/ontology/NANDO_2100049 心室頻拍 Ventricular tachycardia MONDO:0005477 http://www.w3.org/2004/02/skos/core#exactMatch 心室頻拍 ventricular tachycardia https://monarchinitiative.org/MONDO:0005477 NANDO:2100151 http://nanbyodata.jp/ontology/NANDO_2100151 膠原病 Collagen disease MONDO:0005554 http://www.w3.org/2004/02/skos/core#exactMatch リウマチ性障害 rheumatic disorder https://monarchinitiative.org/MONDO:0005554 NANDO:2100175 http://nanbyodata.jp/ontology/NANDO_2100175 血液疾患 Blood disease MONDO:0005570 http://www.w3.org/2004/02/skos/core#exactMatch 血液障害 hematologic disorder https://monarchinitiative.org/MONDO:0005570 NANDO:2200069 http://nanbyodata.jp/ontology/NANDO_2200069 卵黄嚢腫 Yolk sac tumour MONDO:0005744 http://www.w3.org/2004/02/skos/core#exactMatch 卵黄嚢腫瘍 yolk sac tumor https://monarchinitiative.org/MONDO:0005744 NANDO:2200034 http://nanbyodata.jp/ontology/NANDO_2200034 濾胞樹状細胞肉腫 Follicular dendritic cell sarcoma MONDO:0005764 http://www.w3.org/2004/02/skos/core#exactMatch 濾胞樹状細胞肉腫 follicular dendritic cell sarcoma https://monarchinitiative.org/MONDO:0005764 NANDO:2200035 http://nanbyodata.jp/ontology/NANDO_2200035 指状嵌入樹状細胞肉腫 Interdigitating dendritic cell sarcoma MONDO:0005813 http://www.w3.org/2004/02/skos/core#exactMatch 指状嵌入細胞肉腫 interdigitating dendritic cell sarcoma https://monarchinitiative.org/MONDO:0005813 NANDO:2200072 http://nanbyodata.jp/ontology/NANDO_2200072 性索間質性腫瘍 Sex-cord stromal tumour MONDO:0006055 http://www.w3.org/2004/02/skos/core#exactMatch 性索間質新生物 sex cord-stromal tumor https://monarchinitiative.org/MONDO:0006055 NANDO:2200052 http://nanbyodata.jp/ontology/NANDO_2200052 悪性骨巨細胞腫 Malignancy in giant cell tumour of bone MONDO:0006287 http://www.w3.org/2004/02/skos/core#exactMatch 骨巨細胞腫瘍における悪性腫瘍 malignancy in giant cell tumor of bone https://monarchinitiative.org/MONDO:0006287 NANDO:2200039 http://nanbyodata.jp/ontology/NANDO_2200039 ロサイ・ドルフマン病 Rosai-Dorfman disease 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 https://monarchinitiative.org/MONDO:0006412 NANDO:2200079 http://nanbyodata.jp/ontology/NANDO_2200079 悪性胸腺腫 Malignant thymoma MONDO:0006451 http://www.w3.org/2004/02/skos/core#exactMatch 胸腺癌 thymic carcinoma https://monarchinitiative.org/MONDO:0006451 NANDO:2200073 http://nanbyodata.jp/ontology/NANDO_2200073 副腎皮質癌 Adrenocortical carcinoma MONDO:0006639 http://www.w3.org/2004/02/skos/core#exactMatch 副腎皮質癌 adrenal cortex carcinoma https://monarchinitiative.org/MONDO:0006639 NANDO:2100085 http://nanbyodata.jp/ontology/NANDO_2100085 心房中隔欠損症 Atrial septal defect MONDO:0006664 http://www.w3.org/2004/02/skos/core#exactMatch 心房中隔欠損 atrial septal defect https://monarchinitiative.org/MONDO:0006664 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症IA型 pseudohypoparathyroidism type 1A https://monarchinitiative.org/MONDO:0007078 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch フィンランド型アミロイドーシス Finnish type amyloidosis https://monarchinitiative.org/MONDO:0007097 NANDO:2200047 http://nanbyodata.jp/ontology/NANDO_2200047 肝細胞癌 Hepatocellular carcinoma MONDO:0007256 http://www.w3.org/2004/02/skos/core#exactMatch 肝細胞癌 hepatocellular carcinoma https://monarchinitiative.org/MONDO:0007256 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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 脊椎異形成型 Ehlers-Danlos syndrome, spondylodysplastic type https://monarchinitiative.org/MONDO:0007526 NANDO:1201091 http://nanbyodata.jp/ontology/NANDO_1201091 歯周型エーラス・ダンロス症候群 Periodontal Ehlers-Danlos syndrome MONDO:0007527 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 歯周型 Ehlers-Danlos syndrome, periodontitis type https://monarchinitiative.org/MONDO:0007527 NANDO:2200009 http://nanbyodata.jp/ontology/NANDO_2200009 急性単球性白血病 Acute monocytic leukemia MONDO:0007896 http://www.w3.org/2004/02/skos/core#exactMatch 急性単球性白血病 acute monocytic leukemia https://monarchinitiative.org/MONDO:0007896 NANDO:1201099 http://nanbyodata.jp/ontology/NANDO_1201099 変容性骨異形成症 Metatropic dysplasia MONDO:0007986 http://www.w3.org/2004/02/skos/core#exactMatch 変容性骨異形成症 metatropic dysplasia https://monarchinitiative.org/MONDO:0007986 NANDO:1200967 http://nanbyodata.jp/ontology/NANDO_1200967 ネイル・パテラ症候群 Nail-patella syndrome MONDO:0008061 http://www.w3.org/2004/02/skos/core#exactMatch ネイル・パテラ症候群 nail-patella syndrome https://monarchinitiative.org/MONDO:0008061 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ハッチンソン・ギルフォード早老症候群 Hutchinson-Gilford progeria syndrome https://monarchinitiative.org/MONDO:0008310 NANDO:2200042 http://nanbyodata.jp/ontology/NANDO_2200042 網膜芽細胞腫 Retinoblastoma MONDO:0008380 http://www.w3.org/2004/02/skos/core#exactMatch 網膜芽細胞腫 retinoblastoma https://monarchinitiative.org/MONDO:0008380 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://www.w3.org/2004/02/skos/core#exactMatch 脊椎骨端骨幹端異形成症, マロトー型 spondyloepimetaphyseal dysplasia, Maroteaux type https://monarchinitiative.org/MONDO:0008473 NANDO:1201101 http://nanbyodata.jp/ontology/NANDO_1201101 脊椎骨幹端異形成症Kozlowski 型 Spondylometaphyseal dysplasia, Kozlowski type MONDO:0008477 http://www.w3.org/2004/02/skos/core#exactMatch 脊椎骨幹端異形成症, Kozlowski型 spondylometaphyseal dysplasia, Kozlowski type https://monarchinitiative.org/MONDO:0008477 NANDO:1201078 http://nanbyodata.jp/ontology/NANDO_1201078 偽性副甲状腺機能低下症II型 Pseudohypoparathyroidism type 2 MONDO:0008749 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症2型 pseudohypoparathyroidism type 2 https://monarchinitiative.org/MONDO:0008749 NANDO:1200987 http://nanbyodata.jp/ontology/NANDO_1200987 β-ケトチオラーゼ欠損症 Beta-ketothiolase deficiency MONDO:0008760 http://www.w3.org/2004/02/skos/core#exactMatch β-ケトチオラーゼ欠損症 beta-ketothiolase deficiency https://monarchinitiative.org/MONDO:0008760 NANDO:1201006 http://nanbyodata.jp/ontology/NANDO_1201006 膠様滴状角膜ジストロフィー Gelatinous drop-like corneal dystrophy MONDO:0008777 http://www.w3.org/2004/02/skos/core#exactMatch 膠様滴状角膜ジストロフィー gelatinous drop-like corneal dystrophy https://monarchinitiative.org/MONDO:0008777 NANDO:1200972 http://nanbyodata.jp/ontology/NANDO_1200972 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://www.w3.org/2004/02/skos/core#exactMatch カルニチン-アシルカルニチントランスロカーゼ欠損症 carnitine-acylcarnitine translocase deficiency https://monarchinitiative.org/MONDO:0008918 NANDO:1200973 http://nanbyodata.jp/ontology/NANDO_1200973 カルニチントランスポーター欠損症 Systemic primary carnitine deficiency MONDO:0008919 http://www.w3.org/2004/02/skos/core#exactMatch 全身性原発性カルニチン欠乏症 systemic primary carnitine deficiency disease https://monarchinitiative.org/MONDO:0008919 NANDO:2200050 http://nanbyodata.jp/ontology/NANDO_2200050 軟骨肉腫 Chondrosarcoma MONDO:0008977 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨肉腫 chondrosarcoma https://monarchinitiative.org/MONDO:0008977 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://www.w3.org/2004/02/skos/core#exactMatch バラー・ゲロルト症候群 Baller-Gerold syndrome https://monarchinitiative.org/MONDO:0009039 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 心臓弁型 Ehlers-Danlos syndrome, cardiac valvular type https://monarchinitiative.org/MONDO:0009159 NANDO:1201066 http://nanbyodata.jp/ontology/NANDO_1201066 接合部型表皮水疱症（非ヘルリッツ型） Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症, 非ヘルリッツ型 junctional epidermolysis bullosa, non-Herlitz type https://monarchinitiative.org/MONDO:0009180 NANDO:1201065 http://nanbyodata.jp/ontology/NANDO_1201065 接合部型表皮水疱症（ヘルリッツ型） Herlitz junctional epidermolysis bullosa MONDO:0009182 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症ヘルリッツ型 junctional epidermolysis bullosa Herlitz type https://monarchinitiative.org/MONDO:0009182 NANDO:1201087 http://nanbyodata.jp/ontology/NANDO_1201087 脆弱角膜症候群 Brittle cornea syndrome MONDO:0009242 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱角膜症候群 brittle cornea syndrome https://monarchinitiative.org/MONDO:0009242 NANDO:1201039 http://nanbyodata.jp/ontology/NANDO_1201039 ホモシスチン尿症I型 Homocystinuria type 1 MONDO:0009352 http://www.w3.org/2004/02/skos/core#exactMatch 古典型ホモシスチン尿症 classic homocystinuria https://monarchinitiative.org/MONDO:0009352 NANDO:1201041 http://nanbyodata.jp/ontology/NANDO_1201041 ホモシスチン尿症III型 Homocystinuria type 3 MONDO:0009353 http://www.w3.org/2004/02/skos/core#exactMatch メチレンテトラヒドロ葉酸還元酵素欠損によるホモシスチン尿症 homocystinuria due to methylene tetrahydrofolate reductase deficiency https://monarchinitiative.org/MONDO:0009353 NANDO:1201083 http://nanbyodata.jp/ontology/NANDO_1201083 ミラー・ディカー症候群 Miller Dieker syndrome MONDO:0009532 http://www.w3.org/2004/02/skos/core#exactMatch ミラー・ディカー滑脳症候群 Miller-Dieker lissencephaly syndrome https://monarchinitiative.org/MONDO:0009532 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 3-メチルグルタコン酸尿症1型 3-methylglutaconic aciduria type 1 https://monarchinitiative.org/MONDO:0009610 NANDO:1201057 http://nanbyodata.jp/ontology/NANDO_1201057 発作性無呼吸を伴う先天性筋無力症 Congenital myasthenic syndrome with episodic apnoea MONDO:0009689 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋無力症候群6 congenital myasthenic syndrome 6 https://monarchinitiative.org/MONDO:0009689 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 先天性成長ホルモン単独欠損症 isolated congenital growth hormone deficiency https://monarchinitiative.org/MONDO:0000050 NANDO:2200258 http://nanbyodata.jp/ontology/NANDO_2200258 完全大血管転位症 Complete transposition of the great arteries MONDO:0000153 http://www.w3.org/2004/02/skos/core#exactMatch 完全大血管転位症 transposition of the great arteries https://monarchinitiative.org/MONDO:0000153 NANDO:2200227 http://nanbyodata.jp/ontology/NANDO_2200227 心室細動 Ventricular fibrillation MONDO:0000190 http://www.w3.org/2004/02/skos/core#exactMatch 心室細動 ventricular fibrillation https://monarchinitiative.org/MONDO:0000190 NANDO:2200214 http://nanbyodata.jp/ontology/NANDO_2200214 完全房室ブロック Complete atrio-ventricular block MONDO:0000468 http://www.w3.org/2004/02/skos/core#exactMatch 第3度房室ブロック third-degree atrioventricular block https://monarchinitiative.org/MONDO:0000468 NANDO:2200139 http://nanbyodata.jp/ontology/NANDO_2200139 家族性若年性高尿酸血症性腎症 Familial juvenile hyperuricemic nephropathy MONDO:0000608 http://www.w3.org/2004/02/skos/core#exactMatch 家族性若年性高尿酸血症性腎症 familial juvenile hyperuricemic nephropathy https://monarchinitiative.org/MONDO:0000608 NANDO:2200099 http://nanbyodata.jp/ontology/NANDO_2200099 未分化神経外胚葉性腫瘍（中枢性のものに限る。） Primitive neuroectodermal tumour of the central nervous system MONDO:0000640 http://www.w3.org/2004/02/skos/core#exactMatch 中枢神経系未分化神経外胚葉性腫瘍 central nervous system primitive neuroectodermal neoplasm https://monarchinitiative.org/MONDO:0000640 NANDO:2200242 http://nanbyodata.jp/ontology/NANDO_2200242 左冠動脈肺動脈起始症 Abnormal origin of left coronary artery from pulmonary artery MONDO:0000811 http://www.w3.org/2004/02/skos/core#exactMatch 左冠動脈肺動脈起始症 anomalous left coronary artery from the pulmonary artery https://monarchinitiative.org/MONDO:0000811 NANDO:2200187 http://nanbyodata.jp/ontology/NANDO_2200187 ファンコーニ症候群 Fanconi syndrome MONDO:0001083 http://www.w3.org/2004/02/skos/core#exactMatch ファンコーニ尿細管症候群 Fanconi renotubular syndrome https://monarchinitiative.org/MONDO:0001083 NANDO:2200136 http://nanbyodata.jp/ontology/NANDO_2200136 慢性尿細管間質性腎炎 Tubulointerstitial nephritis MONDO:0001085 http://www.w3.org/2004/02/skos/core#exactMatch 間質性腎炎 interstitial nephritis https://monarchinitiative.org/MONDO:0001085 NANDO:2200137 http://nanbyodata.jp/ontology/NANDO_2200137 慢性腎盂腎炎 Chronic pyelonephritis MONDO:0001110 http://www.w3.org/2004/02/skos/core#exactMatch 慢性腎盂腎炎 chronic pyelonephritis https://monarchinitiative.org/MONDO:0001110 NANDO:2200213 http://nanbyodata.jp/ontology/NANDO_2200213 モビッツ2型ブロック Mobitz type II second degree atrioventricular block MONDO:0001261 http://www.w3.org/2004/02/skos/core#exactMatch モービッツII型房室ブロック Mobitz type II atrioventricular block https://monarchinitiative.org/MONDO:0001261 NANDO:2200303 http://nanbyodata.jp/ontology/NANDO_2200303 僧帽弁閉鎖不全症 Mitral regurgitation MONDO:0001298 http://www.w3.org/2004/02/skos/core#exactMatch 先天性僧帽弁閉鎖不全症 congenital mitral valve insufficiency https://monarchinitiative.org/MONDO:0001298 NANDO:2200299 http://nanbyodata.jp/ontology/NANDO_2200299 慢性肺性心 Chronic cor pulmonale MONDO:0001493 http://www.w3.org/2004/02/skos/core#exactMatch 慢性肺性心 chronic pulmonary heart disease https://monarchinitiative.org/MONDO:0001493 NANDO:2200157 http://nanbyodata.jp/ontology/NANDO_2200157 ポッター症候群 Potter syndrome MONDO:0001558 http://www.w3.org/2004/02/skos/core#exactMatch ポッター症候群 Potter sequence https://monarchinitiative.org/MONDO:0001558 NANDO:2200212 http://nanbyodata.jp/ontology/NANDO_2200212 洞不全症候群 Sick sinus syndrome MONDO:0001823 http://www.w3.org/2004/02/skos/core#exactMatch 洞不全症候群 sick sinus syndrome https://monarchinitiative.org/MONDO:0001823 NANDO:2200144 http://nanbyodata.jp/ontology/NANDO_2200144 尿細管性アシドーシス Renal tubular acidosis MONDO:0001909 http://www.w3.org/2004/02/skos/core#exactMatch 尿細管性アシドーシス renal tubular acidosis https://monarchinitiative.org/MONDO:0001909 NANDO:2200305 http://nanbyodata.jp/ontology/NANDO_2200305 肺動脈弁閉鎖不全症 Pulmonary valve regurgitation MONDO:0001927 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈弁閉鎖不全症 pulmonary valve insufficiency https://monarchinitiative.org/MONDO:0001927 NANDO:2200270 http://nanbyodata.jp/ontology/NANDO_2200270 心室中隔欠損症 Ventricular septal defect MONDO:0002070 http://www.w3.org/2004/02/skos/core#exactMatch 心室中隔欠損症 ventricular septal defect https://monarchinitiative.org/MONDO:0002070 NANDO:2200199 http://nanbyodata.jp/ontology/NANDO_2200199 特発性間質性肺炎 Idiopathic interstitial pneumonia MONDO:0002429 http://www.w3.org/2004/02/skos/core#exactMatch 特発性間質性肺炎 idiopathic interstitial pneumonia https://monarchinitiative.org/MONDO:0002429 NANDO:2200228 http://nanbyodata.jp/ontology/NANDO_2200228 QT延長症候群 Long qt syndrome MONDO:0002442 http://www.w3.org/2004/02/skos/core#exactMatch QT延長症候群 long QT syndrome https://monarchinitiative.org/MONDO:0002442 NANDO:2200123 http://nanbyodata.jp/ontology/NANDO_2200123 膜性増殖性糸球体腎炎 Membranoproliferative glomerulonephritis MONDO:0002461 http://www.w3.org/2004/02/skos/core#exactMatch 膜性増殖性糸球体腎炎 membranoproliferative glomerulonephritis https://monarchinitiative.org/MONDO:0002461 NANDO:2200172 http://nanbyodata.jp/ontology/NANDO_2200172 単純性腎嚢胞 Simple renal cyst MONDO:0002473 http://www.w3.org/2004/02/skos/core#exactMatch 嚢胞性腎疾患 cystic kidney disease https://monarchinitiative.org/MONDO:0002473 NANDO:2200103 http://nanbyodata.jp/ontology/NANDO_2200103 神経鞘腫 Neurinoma MONDO:0002546 http://www.w3.org/2004/02/skos/core#exactMatch 神経鞘腫 schwannoma https://monarchinitiative.org/MONDO:0002546 NANDO:2200194 http://nanbyodata.jp/ontology/NANDO_2200194 気管狭窄 Tracheal stenosis MONDO:0002568 http://www.w3.org/2004/02/skos/core#exactMatch 気管狭窄 tracheal stenosis https://monarchinitiative.org/MONDO:0002568 NANDO:2200104 http://nanbyodata.jp/ontology/NANDO_2200104 奇形腫 Teratoma of the central nervous system MONDO:0002718 http://www.w3.org/2004/02/skos/core#exactMatch 中枢神経系奇形腫 central nervous system teratoma https://monarchinitiative.org/MONDO:0002718 NANDO:2200081 http://nanbyodata.jp/ontology/NANDO_2200081 気管支腫瘍 Bronchial tumour MONDO:0002807 http://www.w3.org/2004/02/skos/core#exactMatch 気管支腫瘍 bronchial neoplasm https://monarchinitiative.org/MONDO:0002807 NANDO:2200301 http://nanbyodata.jp/ontology/NANDO_2200301 三尖弁閉鎖不全症 Tricuspid valve regurgitation MONDO:0002870 http://www.w3.org/2004/02/skos/core#exactMatch 三尖弁閉鎖不全症 tricuspid valve insufficiency https://monarchinitiative.org/MONDO:0002870 NANDO:2200122 http://nanbyodata.jp/ontology/NANDO_2200122 メサンギウム増殖性糸球体腎炎 Mesangial proliferative glomerulonephritis MONDO:0003139 http://www.w3.org/2004/02/skos/core#exactMatch メサンギウム増殖性糸球体腎炎 mesangial proliferative glomerulonephritis https://monarchinitiative.org/MONDO:0003139 NANDO:2200178 http://nanbyodata.jp/ontology/NANDO_2200178 閉塞性尿路疾患 Obstructive uropathy MONDO:0003330 http://www.w3.org/2004/02/skos/core#exactMatch 尿路閉塞 urinary tract obstruction https://monarchinitiative.org/MONDO:0003330 NANDO:2200105 http://nanbyodata.jp/ontology/NANDO_2200105 成熟奇形腫 Mature teratoma MONDO:0003517 http://www.w3.org/2004/02/skos/core#exactMatch 成熟奇形腫 mature teratoma https://monarchinitiative.org/MONDO:0003517 NANDO:2200108 http://nanbyodata.jp/ontology/NANDO_2200108 頭蓋内胚細胞腫瘍 Intracranial germ cell tumour MONDO:0004218 http://www.w3.org/2004/02/skos/core#exactMatch 小児頭蓋内胚細胞腫瘍 childhood germ cell brain tumor https://monarchinitiative.org/MONDO:0004218 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://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 https://monarchinitiative.org/MONDO:0004691 NANDO:2200206 http://nanbyodata.jp/ontology/NANDO_2200206 気管支拡張症 Bronchiectasis MONDO:0004822 http://www.w3.org/2004/02/skos/core#exactMatch 気管支拡張症 bronchiectasis https://monarchinitiative.org/MONDO:0004822 NANDO:2200249 http://nanbyodata.jp/ontology/NANDO_2200249 左心低形成症候群 Hypoplastic left heart syndrome MONDO:0004933 http://www.w3.org/2004/02/skos/core#exactMatch 左心低形成症候群 hypoplastic left heart syndrome https://monarchinitiative.org/MONDO:0004933 NANDO:2200226 http://nanbyodata.jp/ontology/NANDO_2200226 心房細動 Atrial fibrillation MONDO:0004981 http://www.w3.org/2004/02/skos/core#exactMatch 心房細動 atrial fibrillation https://monarchinitiative.org/MONDO:0004981 NANDO:2200232 http://nanbyodata.jp/ontology/NANDO_2200232 拡張型心筋症 Dilated cardiomyopathy MONDO:0005021 http://www.w3.org/2004/02/skos/core#exactMatch 拡張型心筋症 dilated cardiomyopathy https://monarchinitiative.org/MONDO:0005021 NANDO:2200229 http://nanbyodata.jp/ontology/NANDO_2200229 肥大型心筋症 Hypertrophic cardiomyopathy MONDO:0005045 http://www.w3.org/2004/02/skos/core#exactMatch 肥大型心筋症 hypertrophic cardiomyopathy https://monarchinitiative.org/MONDO:0005045 NANDO:2200248 http://nanbyodata.jp/ontology/NANDO_2200248 心筋梗塞 Myocardial infarction MONDO:0005068 http://www.w3.org/2004/02/skos/core#exactMatch 心筋梗塞 myocardial infarction https://monarchinitiative.org/MONDO:0005068 NANDO:2200294 http://nanbyodata.jp/ontology/NANDO_2200294 大動脈瘤 Aortic aneurysm MONDO:0005160 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈瘤 aortic aneurysm https://monarchinitiative.org/MONDO:0005160 NANDO:2200233 http://nanbyodata.jp/ontology/NANDO_2200233 拘束型心筋症 Restrictive cardiomyopathy MONDO:0005201 http://www.w3.org/2004/02/skos/core#exactMatch 拘束型心筋症 restrictive cardiomyopathy https://monarchinitiative.org/MONDO:0005201 NANDO:2200225 http://nanbyodata.jp/ontology/NANDO_2200225 心房粗動 Atrial flutter MONDO:0005310 http://www.w3.org/2004/02/skos/core#exactMatch 心房粗動 atrial flutter https://monarchinitiative.org/MONDO:0005310 NANDO:2200121 http://nanbyodata.jp/ontology/NANDO_2200121 IgA腎症 IgA nephropathy MONDO:0005342 http://www.w3.org/2004/02/skos/core#exactMatch IgＡ腎症 IgA glomerulonephritis https://monarchinitiative.org/MONDO:0005342 NANDO:2200113 http://nanbyodata.jp/ontology/NANDO_2200113 巣状分節性糸球体硬化症 Focal segmental glomerulosclerosis MONDO:0005363 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性巣状分節性糸球体硬化症 inherited focal segmental glomerulosclerosis https://monarchinitiative.org/MONDO:0005363 NANDO:2200328 http://nanbyodata.jp/ontology/NANDO_2200328 バセドウ病 Basedow disease MONDO:0005364 http://www.w3.org/2004/02/skos/core#exactMatch グレーブス病 Graves disease https://monarchinitiative.org/MONDO:0005364 NANDO:2200114 http://nanbyodata.jp/ontology/NANDO_2200114 膜性腎症 Membranous nephropathy MONDO:0005376 http://www.w3.org/2004/02/skos/core#exactMatch 膜性糸球体腎炎 membranous glomerulonephritis https://monarchinitiative.org/MONDO:0005376 NANDO:2200128 http://nanbyodata.jp/ontology/NANDO_2200128 ループス腎炎 Lupus nephritis MONDO:0005556 http://www.w3.org/2004/02/skos/core#exactMatch ループス腎炎 lupus nephritis https://monarchinitiative.org/MONDO:0005556 NANDO:2200307 http://nanbyodata.jp/ontology/NANDO_2200307 大動脈弁閉鎖不全症 Aortic valve regurgitation MONDO:0005648 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弁閉鎖不全症 aortic valve insufficiency https://monarchinitiative.org/MONDO:0005648 NANDO:2200210 http://nanbyodata.jp/ontology/NANDO_2200210 先天性横隔膜ヘルニア Congenital diaphragmatic hernia MONDO:0005711 http://www.w3.org/2004/02/skos/core#exactMatch 先天性横隔膜ヘルニア congenital diaphragmatic hernia https://monarchinitiative.org/MONDO:0005711 NANDO:2200322 http://nanbyodata.jp/ontology/NANDO_2200322 高プロラクチン血症 Hyperprolactinemia MONDO:0005804 http://www.w3.org/2004/02/skos/core#exactMatch 高プロラクチン血症 hyperprolactinemia https://monarchinitiative.org/MONDO:0005804 NANDO:2200302 http://nanbyodata.jp/ontology/NANDO_2200302 僧帽弁狭窄症 Mitral valve stenosis MONDO:0005852 http://www.w3.org/2004/02/skos/core#exactMatch 僧帽弁狭窄症 mitral valve stenosis https://monarchinitiative.org/MONDO:0005852 NANDO:2200300 http://nanbyodata.jp/ontology/NANDO_2200300 三尖弁狭窄症 Tricuspid valve stenosis MONDO:0005997 http://www.w3.org/2004/02/skos/core#exactMatch 三尖弁狭窄症 tricuspid valve stenosis https://monarchinitiative.org/MONDO:0005997 NANDO:2200179 http://nanbyodata.jp/ontology/NANDO_2200179 膀胱尿管逆流 Vesicoureteral reflux MONDO:0006007 http://www.w3.org/2004/02/skos/core#exactMatch 膀胱尿管逆流 vesicoureteral reflux https://monarchinitiative.org/MONDO:0006007 NANDO:2200095 http://nanbyodata.jp/ontology/NANDO_2200095 下垂体腺腫 Pituitary adenoma MONDO:0006373 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体腺腫 pituitary gland adenoma https://monarchinitiative.org/MONDO:0006373 NANDO:2200107 http://nanbyodata.jp/ontology/NANDO_2200107 悪性転化を伴う奇形腫 Teratoma with malignant transformation MONDO:0006444 http://www.w3.org/2004/02/skos/core#exactMatch 悪性転化を伴う奇形腫 teratoma with malignant transformation https://monarchinitiative.org/MONDO:0006444 NANDO:2200239 http://nanbyodata.jp/ontology/NANDO_2200239 収縮性心膜炎 Constrictive pericarditis MONDO:0006711 http://www.w3.org/2004/02/skos/core#exactMatch 収縮性心膜炎 constrictive pericarditis https://monarchinitiative.org/MONDO:0006711 NANDO:2200246 http://nanbyodata.jp/ontology/NANDO_2200246 冠動脈狭窄症 Stenosis or atresia of coronary artery MONDO:0006715 http://www.w3.org/2004/02/skos/core#exactMatch 冠動脈狭窄症 coronary stenosis https://monarchinitiative.org/MONDO:0006715 NANDO:2200234 http://nanbyodata.jp/ontology/NANDO_2200234 心室瘤 Aneurysm of ventricle MONDO:0006779 http://www.w3.org/2004/02/skos/core#exactMatch 心室瘤 heart aneurysm https://monarchinitiative.org/MONDO:0006779 NANDO:2200323 http://nanbyodata.jp/ontology/NANDO_2200323 抗利尿ホルモン不適切分泌症候群 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:0006802 http://www.w3.org/2004/02/skos/core#exactMatch 抗利尿ホルモン不適合分泌症候群 inappropriate ADH syndrome https://monarchinitiative.org/MONDO:0006802 NANDO:2200112 http://nanbyodata.jp/ontology/NANDO_2200112 微小変化型ネフローゼ症候群 Minimal change nephrotic syndrome MONDO:0006835 http://www.w3.org/2004/02/skos/core#exactMatch リポイドネフローゼ minimal change disease https://monarchinitiative.org/MONDO:0006835 NANDO:2200276 http://nanbyodata.jp/ontology/NANDO_2200276 肺動脈弁下狭窄症 Subvalvular pulmonary stenosis MONDO:0006935 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈弁下狭窄症 pulmonary subvalvular stenosis https://monarchinitiative.org/MONDO:0006935 NANDO:2200304 http://nanbyodata.jp/ontology/NANDO_2200304 肺動脈弁狭窄症 Pulmonary valve stenosis MONDO:0006936 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈弁狭窄症 pulmonary valve stenosis https://monarchinitiative.org/MONDO:0006936 NANDO:2200141 http://nanbyodata.jp/ontology/NANDO_2200141 腎血管性高血圧 Renovascular hypertension MONDO:0006947 http://www.w3.org/2004/02/skos/core#exactMatch 腎血管性高血圧症 renovascular hypertension https://monarchinitiative.org/MONDO:0006947 NANDO:2200277 http://nanbyodata.jp/ontology/NANDO_2200277 大動脈弁下狭窄症 Subvalvular aortic stenosis MONDO:0006987 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弁下狭窄症 subvalvular aortic stenosis https://monarchinitiative.org/MONDO:0006987 NANDO:2200185 http://nanbyodata.jp/ontology/NANDO_2200185 Prune belly症候群 Prune belly syndrome MONDO:0007032 http://www.w3.org/2004/02/skos/core#exactMatch Prune belly症候群 prune belly syndrome https://monarchinitiative.org/MONDO:0007032 NANDO:2200271 http://nanbyodata.jp/ontology/NANDO_2200271 総肺静脈還流異常症 Total anomalous pulmonary venous connection MONDO:0007130 http://www.w3.org/2004/02/skos/core#exactMatch 先天性総肺静脈還流異常症 congenital total pulmonary venous return anomaly https://monarchinitiative.org/MONDO:0007130 NANDO:2200283 http://nanbyodata.jp/ontology/NANDO_2200283 大動脈縮窄症 Coarctation of the aorta MONDO:0007345 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈縮窄症 aorta coarctation https://monarchinitiative.org/MONDO:0007345 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch フィブロネクチン糸球体症 fibronectin glomerulopathy https://monarchinitiative.org/MONDO:0007671 NANDO:2200176 http://nanbyodata.jp/ontology/NANDO_2200176 先天性水腎症 Ureteropelvic junction obstruction MONDO:0007741 http://www.w3.org/2004/02/skos/core#exactMatch 先天性水腎症 congenital hydronephrosis https://monarchinitiative.org/MONDO:0007741 NANDO:2200090 http://nanbyodata.jp/ontology/NANDO_2200090 髄芽腫 Medulloblastoma MONDO:0007959 http://www.w3.org/2004/02/skos/core#exactMatch 髄芽腫 medulloblastoma https://monarchinitiative.org/MONDO:0007959 NANDO:2200132 http://nanbyodata.jp/ontology/NANDO_2200132 ネイル・パテラ症候群 Nail-patella syndrome MONDO:0008061 http://www.w3.org/2004/02/skos/core#exactMatch ネイル・パテラ症候群 nail-patella syndrome https://monarchinitiative.org/MONDO:0008061 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 心室中隔欠損を伴う肺動脈閉鎖症 pulmonary atresia with ventricular septal defect https://monarchinitiative.org/MONDO:0008343 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 肺血鉄症 pulmonary hemosiderosis https://monarchinitiative.org/MONDO:0008346 NANDO:2200285 http://nanbyodata.jp/ontology/NANDO_2200285 大動脈弁上狭窄症 Supravalvular aortic stenosis MONDO:0008504 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弁上狭窄症 supravalvular aortic stenosis https://monarchinitiative.org/MONDO:0008504 NANDO:2200254 http://nanbyodata.jp/ontology/NANDO_2200254 ファロー四徴症 Tetralogy of Fallot MONDO:0008542 http://www.w3.org/2004/02/skos/core#exactMatch ファロー四徴症 tetralogy of fallot https://monarchinitiative.org/MONDO:0008542 NANDO:2200183 http://nanbyodata.jp/ontology/NANDO_2200183 尿管瘤 Ureteroceles MONDO:0008628 http://www.w3.org/2004/02/skos/core#exactMatch 尿管瘤 ureterocele https://monarchinitiative.org/MONDO:0008628 NANDO:2200286 http://nanbyodata.jp/ontology/NANDO_2200286 ウィリアムズ症候群 Williams syndrome MONDO:0008678 http://www.w3.org/2004/02/skos/core#exactMatch ウィリアムズ症候群 Williams syndrome https://monarchinitiative.org/MONDO:0008678 NANDO:2200116 http://nanbyodata.jp/ontology/NANDO_2200116 Denys-Drash症候群 Denys-Drash syndrome MONDO:0008682 http://www.w3.org/2004/02/skos/core#exactMatch デニス・ドラッシュ症候群 Denys-Drash syndrome https://monarchinitiative.org/MONDO:0008682 NANDO:2200217 http://nanbyodata.jp/ontology/NANDO_2200217 上室頻拍 Supraventricular tachycardia due to WPW syndrome MONDO:0008685 http://www.w3.org/2004/02/skos/core#exactMatch ウォルフ・パーキンソン・ホワイト症候群 Wolff-Parkinson-White syndrome https://monarchinitiative.org/MONDO:0008685 NANDO:2200098 http://nanbyodata.jp/ontology/NANDO_2200098 脊索腫 Chordoma MONDO:0008978 http://www.w3.org/2004/02/skos/core#exactMatch 脊索腫 chordoma https://monarchinitiative.org/MONDO:0008978 NANDO:2200288 http://nanbyodata.jp/ontology/NANDO_2200288 大動脈弓離断複合 Interruption of aortic arch complex MONDO:0009010 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弓離断症 aortic arch interruption https://monarchinitiative.org/MONDO:0009010 NANDO:2200205 http://nanbyodata.jp/ontology/NANDO_2200205 嚢胞性線維症 Cystic fibrosis MONDO:0009061 http://www.w3.org/2004/02/skos/core#exactMatch 嚢胞性線維症 cystic fibrosis https://monarchinitiative.org/MONDO:0009061 NANDO:2200260 http://nanbyodata.jp/ontology/NANDO_2200260 エプスタイン病 Ebstein's anomaly MONDO:0009144 http://www.w3.org/2004/02/skos/core#exactMatch エプスタイン病 Ebstein anomaly https://monarchinitiative.org/MONDO:0009144 NANDO:2200235 http://nanbyodata.jp/ontology/NANDO_2200235 心内膜線維弾性症 Endocardial fibroelastosis MONDO:0009169 http://www.w3.org/2004/02/skos/core#exactMatch 心内膜線維弾性症 endocardial fibroelastosis https://monarchinitiative.org/MONDO:0009169 NANDO:2200125 http://nanbyodata.jp/ontology/NANDO_2200125 抗糸球体基底膜腎炎 Goodpasture syndrome MONDO:0009303 http://www.w3.org/2004/02/skos/core#exactMatch 抗糸球体基底膜抗体症 anti-glomerular basement membrane disease https://monarchinitiative.org/MONDO:0009303 NANDO:2200475 http://nanbyodata.jp/ontology/NANDO_2200475 高メチオニン血症 Hypermethioninemia MONDO:0000351 http://www.w3.org/2004/02/skos/core#exactMatch 高メチオニン血症 disorder of methionine catabolism https://monarchinitiative.org/MONDO:0000351 NANDO:2200345 http://nanbyodata.jp/ontology/NANDO_2200345 副甲状腺機能低下症 Hypoparathyroidism MONDO:0001220 http://www.w3.org/2004/02/skos/core#exactMatch 副甲状腺機能低下症 hypoparathyroidism https://monarchinitiative.org/MONDO:0001220 NANDO:2200341 http://nanbyodata.jp/ontology/NANDO_2200341 甲状腺ホルモン不応症 Resistance to thyroid hormone MONDO:0001328 http://www.w3.org/2004/02/skos/core#exactMatch 甲状腺ホルモン不応症候群 thyroid hormone resistance syndrome https://monarchinitiative.org/MONDO:0001328 NANDO:2200361 http://nanbyodata.jp/ontology/NANDO_2200361 アルドステロン症 Aldosteronism MONDO:0001422 http://www.w3.org/2004/02/skos/core#exactMatch 原発性アルドステロン症 primary aldosteronism https://monarchinitiative.org/MONDO:0001422 NANDO:2200547 http://nanbyodata.jp/ontology/NANDO_2200547 ムコ多糖症I型 Mucopolysaccharidosis type I MONDO:0001586 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症1型 mucopolysaccharidosis type 1 https://monarchinitiative.org/MONDO:0001586 NANDO:2200343 http://nanbyodata.jp/ontology/NANDO_2200343 副甲状腺機能亢進症 Hyperparathyroidism MONDO:0001741 http://www.w3.org/2004/02/skos/core#exactMatch 副甲状腺機能亢進症 hyperparathyroidism https://monarchinitiative.org/MONDO:0001741 NANDO:2200388 http://nanbyodata.jp/ontology/NANDO_2200388 混合性性腺異形成症 Mixed gonadal dysgenesis MONDO:0001969 http://www.w3.org/2004/02/skos/core#exactMatch 混合性性腺異形成症 mixed gonadal dysgenesis https://monarchinitiative.org/MONDO:0001969 NANDO:2200491 http://nanbyodata.jp/ontology/NANDO_2200491 メチルマロン酸血症 Methylmalonic acidemia MONDO:0002012 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸血症 methylmalonic acidemia https://monarchinitiative.org/MONDO:0002012 NANDO:2200538 http://nanbyodata.jp/ontology/NANDO_2200538 糖原病I型 Glycogen storage disease type I MONDO:0002413 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病I glycogen storage disease I https://monarchinitiative.org/MONDO:0002413 NANDO:2200503 http://nanbyodata.jp/ontology/NANDO_2200503 原発性高シュウ酸尿症 Primary hyperoxaluria MONDO:0002474 http://www.w3.org/2004/02/skos/core#exactMatch 原発性高シュウ酸尿症 primary hyperoxaluria https://monarchinitiative.org/MONDO:0002474 NANDO:2200395 http://nanbyodata.jp/ontology/NANDO_2200395 ガストリノーマ Gastrinoma MONDO:0003523 http://www.w3.org/2004/02/skos/core#exactMatch ガストリン産生神経内分泌腫瘍 gastrin-producing neuroendocrine tumor https://monarchinitiative.org/MONDO:0003523 NANDO:2200352 http://nanbyodata.jp/ontology/NANDO_2200352 副腎腺腫 Adrenal adenoma MONDO:0003924 http://www.w3.org/2004/02/skos/core#exactMatch 副腎皮質腺腫 adrenal cortex adenoma https://monarchinitiative.org/MONDO:0003924 NANDO:2200329 http://nanbyodata.jp/ontology/NANDO_2200329 甲状腺機能亢進症 Hyperthyroidism MONDO:0004425 http://www.w3.org/2004/02/skos/core#exactMatch 甲状腺機能亢進症 hyperthyroidism https://monarchinitiative.org/MONDO:0004425 NANDO:2200474 http://nanbyodata.jp/ontology/NANDO_2200474 ホモシスチン尿症 Homocystinuria MONDO:0004737 http://www.w3.org/2004/02/skos/core#exactMatch ホモシスチン尿症 homocystinuria https://monarchinitiative.org/MONDO:0004737 NANDO:2200429 http://nanbyodata.jp/ontology/NANDO_2200429 全身性強皮症 Systemic sclerosis MONDO:0005100 http://www.w3.org/2004/02/skos/core#exactMatch 全身性強皮症 systemic sclerosis https://monarchinitiative.org/MONDO:0005100 NANDO:2200460 http://nanbyodata.jp/ontology/NANDO_2200460 1型糖尿病 Diabetes mellitus type 1 MONDO:0005147 http://www.w3.org/2004/02/skos/core#exactMatch 1型糖尿病 type 1 diabetes mellitus https://monarchinitiative.org/MONDO:0005147 NANDO:2200461 http://nanbyodata.jp/ontology/NANDO_2200461 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 http://www.w3.org/2004/02/skos/core#exactMatch 2型糖尿病 type 2 diabetes mellitus https://monarchinitiative.org/MONDO:0005148 NANDO:2200383 http://nanbyodata.jp/ontology/NANDO_2200383 精巣形成不全 Testicular dysgenesis MONDO:0005437 http://www.w3.org/2004/02/skos/core#exactMatch 精巣形成不全症候群 testicular dysgenesis syndrome https://monarchinitiative.org/MONDO:0005437 NANDO:2200336 http://nanbyodata.jp/ontology/NANDO_2200336 萎縮性甲状腺炎 Atrophic thyroiditis MONDO:0005624 http://www.w3.org/2004/02/skos/core#exactMatch 萎縮性甲状腺炎 atrophic thyroiditis https://monarchinitiative.org/MONDO:0005624 NANDO:2200399 http://nanbyodata.jp/ontology/NANDO_2200399 先天性高インスリン血症 Congenital hyperinsulinemia MONDO:0005803 http://www.w3.org/2004/02/skos/core#exactMatch 高インスリン血症性低血糖症 hyperinsulinemic hypoglycemia https://monarchinitiative.org/MONDO:0005803 NANDO:2200465 http://nanbyodata.jp/ontology/NANDO_2200465 脂肪萎縮性糖尿病 Lipoatrophic diabetes MONDO:0005827 http://www.w3.org/2004/02/skos/core#exactMatch 脂肪萎縮性糖尿病 lipoatrophic diabetes https://monarchinitiative.org/MONDO:0005827 NANDO:2200430 http://nanbyodata.jp/ontology/NANDO_2200430 混合性結合組織病 Mixed connective tissue disease MONDO:0005854 http://www.w3.org/2004/02/skos/core#exactMatch 混合性結合組織病 mixed connective tissue disease https://monarchinitiative.org/MONDO:0005854 NANDO:2200404 http://nanbyodata.jp/ontology/NANDO_2200404 脂肪萎縮症 Lipodystrophy MONDO:0006573 http://www.w3.org/2004/02/skos/core#exactMatch リポジストロフィー lipodystrophy https://monarchinitiative.org/MONDO:0006573 NANDO:2200386 http://nanbyodata.jp/ontology/NANDO_2200386 Klinefelter症候群 Klinefelter syndrome MONDO:0006823 http://www.w3.org/2004/02/skos/core#exactMatch クラインフェルター症候群 Klinefelter syndrome https://monarchinitiative.org/MONDO:0006823 NANDO:2200422 http://nanbyodata.jp/ontology/NANDO_2200422 ベーチェット病 Behcet's disease MONDO:0007191 http://www.w3.org/2004/02/skos/core#exactMatch ベーチェット病 Behcet disease https://monarchinitiative.org/MONDO:0007191 NANDO:2200444 http://nanbyodata.jp/ontology/NANDO_2200444 ケルビズム Cherubism MONDO:0007315 http://www.w3.org/2004/02/skos/core#exactMatch ケルビム症 cherubism https://monarchinitiative.org/MONDO:0007315 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://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍1型 multiple endocrine neoplasia type 1 https://monarchinitiative.org/MONDO:0007540 NANDO:2200335 http://nanbyodata.jp/ontology/NANDO_2200335 橋本病 Hashimoto disease MONDO:0007699 http://www.w3.org/2004/02/skos/core#exactMatch 橋本甲状腺炎 Hashimoto thyroiditis https://monarchinitiative.org/MONDO:0007699 NANDO: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://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 https://monarchinitiative.org/MONDO:0007727 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://www.w3.org/2004/02/skos/core#exactMatch 全身性エリテマトーデス systemic lupus erythematosus https://monarchinitiative.org/MONDO:0007915 NANDO:2200418 http://nanbyodata.jp/ontology/NANDO_2200418 若年性皮膚筋炎 Juvenile dermatomyositis MONDO:0008054 http://www.w3.org/2004/02/skos/core#exactMatch 若年性皮膚筋炎 juvenile dermatomyositis https://monarchinitiative.org/MONDO:0008054 NANDO:2200472 http://nanbyodata.jp/ontology/NANDO_2200472 プロリダーゼ欠損症 Prolidase deficiency MONDO:0008221 http://www.w3.org/2004/02/skos/core#exactMatch プロリダーゼ欠損症 prolidase deficiency https://monarchinitiative.org/MONDO:0008221 NANDO:2200411 http://nanbyodata.jp/ontology/NANDO_2200411 プラダー・ウィリ症候群 Prader-Willi syndrome MONDO:0008300 http://www.w3.org/2004/02/skos/core#exactMatch プラダー・ウィリ症候群 Prader-Willi syndrome https://monarchinitiative.org/MONDO:0008300 NANDO:2200363 http://nanbyodata.jp/ontology/NANDO_2200363 リドル症候群 Liddle syndrome MONDO:0008323 http://www.w3.org/2004/02/skos/core#exactMatch リドル症候群 Liddle syndrome https://monarchinitiative.org/MONDO:0008323 NANDO:2200409 http://nanbyodata.jp/ontology/NANDO_2200409 多嚢胞性卵巣症候群 Polycystic ovary syndrome MONDO:0008487 http://www.w3.org/2004/02/skos/core#exactMatch 多嚢胞性卵巣症候群 polycystic ovary syndrome https://monarchinitiative.org/MONDO:0008487 NANDO:2200434 http://nanbyodata.jp/ontology/NANDO_2200434 ブラウ症候群 Blau syndrome, early onset sarcoidosis MONDO:0008523 http://www.w3.org/2004/02/skos/core#exactMatch ブラウ症候群 Blau syndrome https://monarchinitiative.org/MONDO:0008523 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 中鎖アシルCoA脱水素酵素欠損症 medium chain acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008721 NANDO:2200514 http://nanbyodata.jp/ontology/NANDO_2200514 短鎖アシルCoA脱水素酵素欠損症 Short-chain acyl-CoA dehydrogenase deficiency MONDO:0008722 http://www.w3.org/2004/02/skos/core#exactMatch 短鎖アシルCoA脱水素酵素欠損症 short chain acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008722 NANDO:2200512 http://nanbyodata.jp/ontology/NANDO_2200512 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://www.w3.org/2004/02/skos/core#exactMatch 極長鎖アシルCoA脱水素酵素欠損症 very long chain acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008723 NANDO: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://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 https://monarchinitiative.org/MONDO:0008727 NANDO:2200374 http://nanbyodata.jp/ontology/NANDO_2200374 21-水酸化酵素欠損症 21-Hydroxylase deficiency 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 https://monarchinitiative.org/MONDO:0008728 NANDO:2200372 http://nanbyodata.jp/ontology/NANDO_2200372 11β-水酸化酵素欠損症 11-β-Hydroxylase deficiency 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 https://monarchinitiative.org/MONDO:0008729 NANDO:2200373 http://nanbyodata.jp/ontology/NANDO_2200373 17α-水酸化酵素欠損症 17 alpha-hydroxylase deficiency 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 https://monarchinitiative.org/MONDO:0008730 NANDO:2200504 http://nanbyodata.jp/ontology/NANDO_2200504 アルカプトン尿症 Alkaptonuria MONDO:0008753 http://www.w3.org/2004/02/skos/core#exactMatch アルカプトン尿症 alkaptonuria https://monarchinitiative.org/MONDO:0008753 NANDO:2200493 http://nanbyodata.jp/ontology/NANDO_2200493 β-ケトチオラーゼ欠損症 Beta-ketothiolase deficiency MONDO:0008760 http://www.w3.org/2004/02/skos/core#exactMatch β-ケトチオラーゼ欠損症 beta-ketothiolase deficiency https://monarchinitiative.org/MONDO:0008760 NANDO:2200482 http://nanbyodata.jp/ontology/NANDO_2200482 高アルギニン血症 Hyperargininemia MONDO:0008814 http://www.w3.org/2004/02/skos/core#exactMatch アルギナーゼ欠損症 arginase deficiency https://monarchinitiative.org/MONDO:0008814 NANDO:2200481 http://nanbyodata.jp/ontology/NANDO_2200481 アルギニノコハク酸尿症 Argininosuccinic aciduria MONDO:0008815 http://www.w3.org/2004/02/skos/core#exactMatch アルギニノコハク酸尿症 argininosuccinic aciduria https://monarchinitiative.org/MONDO:0008815 NANDO:2200511 http://nanbyodata.jp/ontology/NANDO_2200511 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://www.w3.org/2004/02/skos/core#exactMatch カルニチン-アシルカルニチントランスロカーゼ欠損症 carnitine-acylcarnitine translocase deficiency https://monarchinitiative.org/MONDO:0008918 NANDO:2200508 http://nanbyodata.jp/ontology/NANDO_2200508 全身性カルニチン欠損症 Organic cation transporter 2 deficiency MONDO:0008919 http://www.w3.org/2004/02/skos/core#exactMatch 全身性原発性カルニチン欠乏症 systemic primary carnitine deficiency disease https://monarchinitiative.org/MONDO:0008919 NANDO:2200480 http://nanbyodata.jp/ontology/NANDO_2200480 アルギニノコハク酸合成酵素欠損症 Argininosuccinate synthetase deficiency MONDO:0008988 http://www.w3.org/2004/02/skos/core#exactMatch シトルリン血症I型 citrullinemia type I https://monarchinitiative.org/MONDO:0008988 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 見かけの鉱質コルチコイド過剰症 apparent mineralocorticoid excess https://monarchinitiative.org/MONDO:0009025 NANDO:2200353 http://nanbyodata.jp/ontology/NANDO_2200353 副腎皮質結節性過形成 ACTH-independent macronodular adrenal hyperplasia MONDO:0009049 http://www.w3.org/2004/02/skos/core#exactMatch 大結節性副腎皮質過形成によるクッシング症候群 Cushing syndrome due to macronodular adrenal hyperplasia https://monarchinitiative.org/MONDO:0009049 NANDO:2200350 http://nanbyodata.jp/ontology/NANDO_2200350 クッシング病 Cushing disease MONDO:0009050 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体腺腫によるクッシング病 Cushing disease due to pituitary adenoma https://monarchinitiative.org/MONDO:0009050 NANDO:2200489 http://nanbyodata.jp/ontology/NANDO_2200489 シスチン尿症 Cystinuria MONDO:0009067 http://www.w3.org/2004/02/skos/core#exactMatch シスチン尿症 cystinuria https://monarchinitiative.org/MONDO:0009067 NANDO:2200488 http://nanbyodata.jp/ontology/NANDO_2200488 リジン尿性蛋白不耐症 Lysinuric protein intolerance MONDO:0009109 http://www.w3.org/2004/02/skos/core#exactMatch リジン尿性蛋白不耐症 lysinuric protein intolerance https://monarchinitiative.org/MONDO:0009109 NANDO:2200531 http://nanbyodata.jp/ontology/NANDO_2200531 遺伝性フルクトース不耐症 Hereditary fructose intolerance MONDO:0009249 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性フルクトース不耐症 hereditary fructose intolerance https://monarchinitiative.org/MONDO:0009249 NANDO:2200535 http://nanbyodata.jp/ontology/NANDO_2200535 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://www.w3.org/2004/02/skos/core#exactMatch フルクトース-1,6-ビスホスファターゼ欠損症 fructose-1,6-bisphosphatase deficiency https://monarchinitiative.org/MONDO:0009251 NANDO:2200533 http://nanbyodata.jp/ontology/NANDO_2200533 ガラクトキナーゼ欠損症 Galactokinase deficiency MONDO:0009255 http://www.w3.org/2004/02/skos/core#exactMatch ガラクトキナーゼ欠損症 galactokinase deficiency https://monarchinitiative.org/MONDO:0009255 NANDO:2200534 http://nanbyodata.jp/ontology/NANDO_2200534 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://www.w3.org/2004/02/skos/core#exactMatch ガラクトースエピメラーゼ欠損症 galactose epimerase deficiency https://monarchinitiative.org/MONDO:0009257 NANDO:2200532 http://nanbyodata.jp/ontology/NANDO_2200532 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://www.w3.org/2004/02/skos/core#exactMatch 古典型ガラクトース血症 classic galactosemia https://monarchinitiative.org/MONDO:0009258 NANDO:2200501 http://nanbyodata.jp/ontology/NANDO_2200501 グルタル酸血症1型 Glutaric acidemia type 1 MONDO:0009281 http://www.w3.org/2004/02/skos/core#exactMatch グルタリルCoA脱水素酵素欠損症 glutaryl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0009281 NANDO:2200502 http://nanbyodata.jp/ontology/NANDO_2200502 グルタル酸血症2型 Glutaric acidemia type 2 MONDO:0009282 http://www.w3.org/2004/02/skos/core#exactMatch マルチプルアシルCoA脱水素酵素欠損症 multiple acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0009282 NANDO:2200539 http://nanbyodata.jp/ontology/NANDO_2200539 糖原病III型 Glycogen storage disease type III MONDO:0009291 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病III glycogen storage disease III https://monarchinitiative.org/MONDO:0009291 NANDO:2200540 http://nanbyodata.jp/ontology/NANDO_2200540 糖原病IV型 Glycogen storage disease type IV MONDO:0009292 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損による糖原病 glycogen storage disease due to glycogen branching enzyme deficiency https://monarchinitiative.org/MONDO:0009292 NANDO:2200541 http://nanbyodata.jp/ontology/NANDO_2200541 糖原病V型 Glycogen storage disease type V MONDO:0009293 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病V glycogen storage disease V https://monarchinitiative.org/MONDO:0009293 NANDO:2200542 http://nanbyodata.jp/ontology/NANDO_2200542 糖原病VI型 Glycogen storage disease type VI MONDO:0009294 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VI glycogen storage disease VI https://monarchinitiative.org/MONDO:0009294 NANDO:2200543 http://nanbyodata.jp/ontology/NANDO_2200543 糖原病VII型 Glycogen storage disease type VII MONDO:0009295 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病VII glycogen storage disease VII https://monarchinitiative.org/MONDO:0009295 NANDO:2200384 http://nanbyodata.jp/ontology/NANDO_2200384 卵巣形成不全 Ovarian dysgenesis MONDO:0009299 http://www.w3.org/2004/02/skos/core#exactMatch 46XX性腺異形成症 46 XX gonadal dysgenesis https://monarchinitiative.org/MONDO:0009299 NANDO:2200487 http://nanbyodata.jp/ontology/NANDO_2200487 ハートナップ病 Hartnup disease MONDO:0009324 http://www.w3.org/2004/02/skos/core#exactMatch ハートナップ病 Hartnup disease https://monarchinitiative.org/MONDO:0009324 NANDO:2200478 http://nanbyodata.jp/ontology/NANDO_2200478 カルバミルリン酸合成酵素欠損症 Carbamoylphosphate synthetase deficiency MONDO:0009376 http://www.w3.org/2004/02/skos/core#exactMatch カルバミルリン酸合成酵素I欠損症 carbamoyl phosphate synthetase I deficiency disease https://monarchinitiative.org/MONDO:0009376 NANDO:2200477 http://nanbyodata.jp/ontology/NANDO_2200477 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://www.w3.org/2004/02/skos/core#exactMatch Nアセチルグルタミン酸合成酵素欠損による高アンモニア血症 hyperammonemia due to N-acetylglutamate synthase deficiency https://monarchinitiative.org/MONDO:0009377 NANDO:2200485 http://nanbyodata.jp/ontology/NANDO_2200485 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://www.w3.org/2004/02/skos/core#exactMatch オルニチントランスロカーゼ欠損症 ornithine translocase deficiency https://monarchinitiative.org/MONDO:0009393 NANDO:2200494 http://nanbyodata.jp/ontology/NANDO_2200494 イソ吉草酸血症 Isovaleric acidemia MONDO:0009475 http://www.w3.org/2004/02/skos/core#exactMatch イソ吉草酸血症 isovaleric acidemia https://monarchinitiative.org/MONDO:0009475 NANDO:2200499 http://nanbyodata.jp/ontology/NANDO_2200499 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://www.w3.org/2004/02/skos/core#exactMatch スクシニル-CoA:3-ケト酸CoAトランスフェラーゼ欠損症 succinyl-CoA:3-ketoacid CoA transferase deficiency https://monarchinitiative.org/MONDO:0009492 NANDO:2200497 http://nanbyodata.jp/ontology/NANDO_2200497 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://www.w3.org/2004/02/skos/core#exactMatch 3-ヒドロキシ-3-メチルグルタル酸尿症 3-hydroxy-3-methylglutaric aciduria https://monarchinitiative.org/MONDO:0009520 NANDO:2200473 http://nanbyodata.jp/ontology/NANDO_2200473 メープルシロップ尿症 Maple syrup urine disease MONDO:0009563 http://www.w3.org/2004/02/skos/core#exactMatch メープルシロップ尿症 maple syrup urine disease https://monarchinitiative.org/MONDO:0009563 NANDO:2200551 http://nanbyodata.jp/ontology/NANDO_2200551 ムコ多糖症VI型 Mucopolysaccharidosis type VI MONDO:0009661 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症6型 mucopolysaccharidosis type 6 https://monarchinitiative.org/MONDO:0009661 NANDO:2200708 http://nanbyodata.jp/ontology/NANDO_2200708 ICF症候群 ICF syndrome MONDO:0000133 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全-動原体不安定性-顔面奇形症候群 immunodeficiency-centromeric instability-facial anomalies syndrome https://monarchinitiative.org/MONDO:0000133 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ウルリッヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy https://monarchinitiative.org/MONDO:0000355 NANDO:2200842 http://nanbyodata.jp/ontology/NANDO_2200842 脳クレアチン欠乏症候群 Cerebral creatine deficiency syndrome MONDO:0000456 http://www.w3.org/2004/02/skos/core#exactMatch 脳クレアチン欠乏症候群 cerebral creatine deficiency syndrome https://monarchinitiative.org/MONDO:0000456 NANDO:2200588 http://nanbyodata.jp/ontology/NANDO_2200588 キサンチン尿症 Xanthinuria MONDO:0000721 http://www.w3.org/2004/02/skos/core#exactMatch キサンチン尿症 xanthinuria https://monarchinitiative.org/MONDO:0000721 NANDO:2200774 http://nanbyodata.jp/ontology/NANDO_2200774 トリパノソーマ感染症 Trypanosomiasis MONDO:0000940 http://www.w3.org/2004/02/skos/core#exactMatch トリパノソーマ症 trypanosomiasis https://monarchinitiative.org/MONDO:0000940 NANDO:2200626 http://nanbyodata.jp/ontology/NANDO_2200626 サラセミア Thalassemia MONDO:0000984 http://www.w3.org/2004/02/skos/core#exactMatch サラセミア thalassemia https://monarchinitiative.org/MONDO:0000984 NANDO:2200644 http://nanbyodata.jp/ontology/NANDO_2200644 家族性赤血球増加症 Familial polycythemia MONDO:0001115 http://www.w3.org/2004/02/skos/core#exactMatch 家族性赤血球増加症 familial polycythemia https://monarchinitiative.org/MONDO:0001115 NANDO:2200639 http://nanbyodata.jp/ontology/NANDO_2200639 播種性血管内凝固症候群 Disseminated intravascular coagulation MONDO:0001243 http://www.w3.org/2004/02/skos/core#exactMatch 播種性血管内凝固症候群 disseminated intravascular coagulation https://monarchinitiative.org/MONDO:0001243 NANDO:2200603 http://nanbyodata.jp/ontology/NANDO_2200603 家族性複合型高脂血症 Familial combined hyperlipidemia MONDO:0001336 http://www.w3.org/2004/02/skos/core#exactMatch 家族性高脂血症 familial hyperlipidemia https://monarchinitiative.org/MONDO:0001336 NANDO:2200720 http://nanbyodata.jp/ontology/NANDO_2200720 選択的IgA欠損症 Selective IgA deficiency MONDO:0001341 http://www.w3.org/2004/02/skos/core#exactMatch 選択的IgA欠損症 selective IgA deficiency disease https://monarchinitiative.org/MONDO:0001341 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://www.w3.org/2004/02/skos/core#exactMatch 顔面肩甲上腕型筋ジストロフィー facioscapulohumeral muscular dystrophy https://monarchinitiative.org/MONDO:0001347 NANDO:2200853 http://nanbyodata.jp/ontology/NANDO_2200853 脊髄性筋萎縮症 Spinal muscular atrophy MONDO:0001516 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症 spinal muscular atrophy https://monarchinitiative.org/MONDO:0001516 NANDO:2200612 http://nanbyodata.jp/ontology/NANDO_2200612 巨赤芽球性貧血 Megaloblastic anemia MONDO:0001700 http://www.w3.org/2004/02/skos/core#exactMatch 巨赤芽球性貧血 megaloblastic anemia https://monarchinitiative.org/MONDO:0001700 NANDO:2200826 http://nanbyodata.jp/ontology/NANDO_2200826 結節性硬化症 Tuberous sclerosis complex MONDO:0001734 http://www.w3.org/2004/02/skos/core#exactMatch 結節性硬化症 tuberous sclerosis https://monarchinitiative.org/MONDO:0001734 NANDO:2200815 http://nanbyodata.jp/ontology/NANDO_2200815 脊髄脂肪腫 Spinal lipoma MONDO:0001790 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄脂肪腫 spinal cord lipoma https://monarchinitiative.org/MONDO:0001790 NANDO:2200561 http://nanbyodata.jp/ontology/NANDO_2200561 ニーマン・ピック病 Niemann-Pick disease MONDO:0001982 http://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病 Niemann-Pick disease https://monarchinitiative.org/MONDO:0001982 NANDO:2200681 http://nanbyodata.jp/ontology/NANDO_2200681 第XIII因子欠乏症 Factor XIII deficiency MONDO:0002241 http://www.w3.org/2004/02/skos/core#exactMatch 第XIII因子欠乏症 factor XIII deficiency https://monarchinitiative.org/MONDO:0002241 NANDO:2200675 http://nanbyodata.jp/ontology/NANDO_2200675 第VII因子欠乏症 Factor VII deficiency MONDO:0002244 http://www.w3.org/2004/02/skos/core#exactMatch 第VII因子欠乏症 factor VII deficiency https://monarchinitiative.org/MONDO:0002244 NANDO:2200678 http://nanbyodata.jp/ontology/NANDO_2200678 第Ⅹ因子欠乏症 Factor X deficiency MONDO:0002247 http://www.w3.org/2004/02/skos/core#exactMatch 第X因子欠乏症 factor X deficiency https://monarchinitiative.org/MONDO:0002247 NANDO:2200690 http://nanbyodata.jp/ontology/NANDO_2200690 先天性プロテインS欠乏症 Protein S deficiency MONDO:0002304 http://www.w3.org/2004/02/skos/core#exactMatch プロテインS欠乏症 protein S deficiency https://monarchinitiative.org/MONDO:0002304 NANDO:2200852 http://nanbyodata.jp/ontology/NANDO_2200852 海綿状血管腫（脳脊髄） Cavernous angioma of the brain and spinal cord MONDO:0002327 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋内海綿状血管腫 intracranial cavernous angioma https://monarchinitiative.org/MONDO:0002327 NANDO:2200636 http://nanbyodata.jp/ontology/NANDO_2200636 溶血性貧血（脾機能亢進症によるものに限る。） Hemolytic anemia MONDO:0003664 http://www.w3.org/2004/02/skos/core#exactMatch 溶血性貧血 hemolytic anemia https://monarchinitiative.org/MONDO:0003664 NANDO:2200776 http://nanbyodata.jp/ontology/NANDO_2200776 先天性補体欠損症 Inherited deficiency of complement system MONDO:0003832 http://www.w3.org/2004/02/skos/core#exactMatch 補体欠損症 complement deficiency https://monarchinitiative.org/MONDO:0003832 NANDO:2200718 http://nanbyodata.jp/ontology/NANDO_2200718 高IgM症候群 Hyper-IgM syndrome MONDO:0003947 http://www.w3.org/2004/02/skos/core#exactMatch 高IgM症候群 hyper-IgM syndrome https://monarchinitiative.org/MONDO:0003947 NANDO:2200655 http://nanbyodata.jp/ontology/NANDO_2200655 本態性血小板血症 Essential thrombocythemia MONDO:0005029 http://www.w3.org/2004/02/skos/core#exactMatch 本態性血小板血症 essential thrombocythemia https://monarchinitiative.org/MONDO:0005029 NANDO:2200810 http://nanbyodata.jp/ontology/NANDO_2200810 ヒト免疫不全ウイルス HIV infection MONDO:0005109 http://www.w3.org/2004/02/skos/core#exactMatch HIV感染症 HIV infectious disease https://monarchinitiative.org/MONDO:0005109 NANDO:2200602 http://nanbyodata.jp/ontology/NANDO_2200602 家族性高コレステロール血症 Familial hypercholesterolemia MONDO:0005439 http://www.w3.org/2004/02/skos/core#exactMatch 家族性高コレステロール血症 familial hypercholesterolemia https://monarchinitiative.org/MONDO:0005439 NANDO:2200627 http://nanbyodata.jp/ontology/NANDO_2200627 グルコース-6-リン酸脱水素酵素欠乏症 Glucose-6-phosphate dehydrogenase deficiency MONDO:0005775 http://www.w3.org/2004/02/skos/core#exactMatch グルコース-6-リン酸脱水素酵素欠損症 G6PD deficiency https://monarchinitiative.org/MONDO:0005775 NANDO:2200637 http://nanbyodata.jp/ontology/NANDO_2200637 脾機能亢進症 Hypersplenism MONDO:0006795 http://www.w3.org/2004/02/skos/core#exactMatch 脾機能亢進症 hypersplenism https://monarchinitiative.org/MONDO:0006795 NANDO:2200844 http://nanbyodata.jp/ontology/NANDO_2200844 アペール症候群 Apert syndrome MONDO:0007041 http://www.w3.org/2004/02/skos/core#exactMatch アペール症候群 Apert syndrome https://monarchinitiative.org/MONDO:0007041 NANDO:2200848 http://nanbyodata.jp/ontology/NANDO_2200848 Seather-Chotzen症候群 Saethre-Chotzen syndrome MONDO:0007042 http://www.w3.org/2004/02/skos/core#exactMatch セートレ・ヒョツェン症候群 Saethre-Chotzen syndrome https://monarchinitiative.org/MONDO:0007042 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 重症複合免疫不全症, 常染色体潜性, T細胞陰性, B細胞陰性, NK細胞陰性, アデノシンデアミナーゼ欠損による severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency https://monarchinitiative.org/MONDO:0007064 NANDO:2200851 http://nanbyodata.jp/ontology/NANDO_2200851 脳動静脈奇形 Cerebral arteriovenous malformation MONDO:0007154 http://www.w3.org/2004/02/skos/core#exactMatch 脳動静脈奇形 arteriovenous malformations of the brain https://monarchinitiative.org/MONDO:0007154 NANDO:2200828 http://nanbyodata.jp/ontology/NANDO_2200828 ゴーリン症候群 Gorlin syndrome MONDO:0007187 http://www.w3.org/2004/02/skos/core#exactMatch 母斑性基底細胞癌症候群 nevoid basal cell carcinoma syndrome https://monarchinitiative.org/MONDO:0007187 NANDO:2200870 http://nanbyodata.jp/ontology/NANDO_2200870 セントラルコア病 Central core disease MONDO:0007294 http://www.w3.org/2004/02/skos/core#exactMatch セントラルコアミオパチー central core myopathy https://monarchinitiative.org/MONDO:0007294 NANDO:2200845 http://nanbyodata.jp/ontology/NANDO_2200845 クルーゾン病 Crouzon disease MONDO:0007405 http://www.w3.org/2004/02/skos/core#exactMatch クルーゾン症候群 Crouzon syndrome https://monarchinitiative.org/MONDO:0007405 NANDO:2200746 http://nanbyodata.jp/ontology/NANDO_2200746 周期性好中球減少症 Cyclic neutropenia MONDO:0008090 http://www.w3.org/2004/02/skos/core#exactMatch 周期性好中球減少症 cyclic hematopoiesis https://monarchinitiative.org/MONDO:0008090 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ハッチンソン・ギルフォード早老症候群 Hutchinson-Gilford progeria syndrome https://monarchinitiative.org/MONDO:0008310 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 血小板型フォン・ヴィレブランド病 platelet-type von Willebrand disease https://monarchinitiative.org/MONDO:0008332 NANDO:2200634 http://nanbyodata.jp/ontology/NANDO_2200634 遺伝性高赤血球膜ホスファチジルコリン溶血性貧血 Xerocytosis with high phosphatidylcholine hemolytic anemia MONDO:0008367 http://www.w3.org/2004/02/skos/core#exactMatch 溶血を伴う赤血球リン脂質障害 red cell phospholipid defect with hemolysis https://monarchinitiative.org/MONDO:0008367 NANDO:2200820 http://nanbyodata.jp/ontology/NANDO_2200820 中隔視神経形成異常症 Septo-optic dysplasia MONDO:0008428 http://www.w3.org/2004/02/skos/core#exactMatch 中隔視神経形成異常症 septooptic dysplasia https://monarchinitiative.org/MONDO:0008428 NANDO:2200830 http://nanbyodata.jp/ontology/NANDO_2200830 スタージ・ウェーバー症候群 Sturge-Weber syndrome MONDO:0008501 http://www.w3.org/2004/02/skos/core#exactMatch スタージ・ウェーバー症候群 Sturge-Weber syndrome https://monarchinitiative.org/MONDO:0008501 NANDO:2200663 http://nanbyodata.jp/ontology/NANDO_2200663 常染色体優性遺伝性血小板減少症 Autosomal dominant thrombocytopenia 2 MONDO:0008555 http://www.w3.org/2004/02/skos/core#exactMatch 血小板減少症2 thrombocytopenia 2 https://monarchinitiative.org/MONDO:0008555 NANDO:2200653 http://nanbyodata.jp/ontology/NANDO_2200653 周期性血小板減少症 Cyclic thrombocytopenia MONDO:0008556 http://www.w3.org/2004/02/skos/core#exactMatch 血小板減少症, 周期性 thrombocytopenia, cyclic https://monarchinitiative.org/MONDO:0008556 NANDO:2200645 http://nanbyodata.jp/ontology/NANDO_2200645 免疫性血小板減少性紫斑病 Immune thrombocytopenic purpura MONDO:0008558 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性血小板減少性紫斑病 autoimmune thrombocytopenic purpura https://monarchinitiative.org/MONDO:0008558 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch フォンヒッペル・リンダウ病 von Hippel-Lindau disease https://monarchinitiative.org/MONDO:0008667 NANDO:2200604 http://nanbyodata.jp/ontology/NANDO_2200604 無βリポタンパク血症 Abetalipoproteinemia MONDO:0008692 http://www.w3.org/2004/02/skos/core#exactMatch 無ベータリポ蛋白血症 abetalipoproteinemia https://monarchinitiative.org/MONDO:0008692 NANDO:2200584 http://nanbyodata.jp/ontology/NANDO_2200584 先天性腸性肢端皮膚炎 Acrodermatitis enteropathica MONDO:0008713 http://www.w3.org/2004/02/skos/core#exactMatch 腸性肢端皮膚炎 acrodermatitis enteropathica https://monarchinitiative.org/MONDO:0008713 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 先天性低フィブリノーゲン血症 congenital afibrinogenemia https://monarchinitiative.org/MONDO:0008737 NANDO:2200835 http://nanbyodata.jp/ontology/NANDO_2200835 アレキサンダー病 Alexander disease MONDO:0008752 http://www.w3.org/2004/02/skos/core#exactMatch アレキサンダー病 Alexander disease https://monarchinitiative.org/MONDO:0008752 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch アスパルチルグルコサミン尿症 aspartylglucosaminuria https://monarchinitiative.org/MONDO:0008830 NANDO:2200705 http://nanbyodata.jp/ontology/NANDO_2200705 毛細血管拡張性運動失調症 Ataxia telangiectasia MONDO:0008840 http://www.w3.org/2004/02/skos/core#exactMatch 毛細血管拡張性運動失調症 ataxia telangiectasia https://monarchinitiative.org/MONDO:0008840 NANDO:2200617 http://nanbyodata.jp/ontology/NANDO_2200617 無トランスフェリン血症 Congenital atransferrinemia MONDO:0008846 http://www.w3.org/2004/02/skos/core#exactMatch 無トランスフェリン血症 atransferrinemia https://monarchinitiative.org/MONDO:0008846 NANDO:2200702 http://nanbyodata.jp/ontology/NANDO_2200702 MHCクラスII欠損症 MHC class II deficiency MONDO:0008855 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスII欠損症 MHC class II deficiency https://monarchinitiative.org/MONDO:0008855 NANDO:2200707 http://nanbyodata.jp/ontology/NANDO_2200707 ブルーム症候群 Bloom syndrome MONDO:0008876 http://www.w3.org/2004/02/skos/core#exactMatch ブルーム症候群 Bloom syndrome https://monarchinitiative.org/MONDO:0008876 NANDO:2200773 http://nanbyodata.jp/ontology/NANDO_2200773 CARD9欠損症 CARD9 deficiency MONDO:0008905 http://www.w3.org/2004/02/skos/core#exactMatch CARD9欠損による侵襲性真菌症に対する素因 predisposition to invasive fungal disease due to CARD9 deficiency https://monarchinitiative.org/MONDO:0008905 NANDO:2200724 http://nanbyodata.jp/ontology/NANDO_2200724 チェディアック・東症候群 Chédiak-Higashi syndrome MONDO:0008963 http://www.w3.org/2004/02/skos/core#exactMatch チェディアック・東症候群 Chediak-Higashi syndrome https://monarchinitiative.org/MONDO:0008963 NANDO:2200781 http://nanbyodata.jp/ontology/NANDO_2200781 C2 欠損症 C2 deficiency MONDO:0009006 http://www.w3.org/2004/02/skos/core#exactMatch 補体成分C2欠損症 complement component 2 deficiency https://monarchinitiative.org/MONDO:0009006 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://www.w3.org/2004/02/skos/core#exactMatch ダンディー・ウォーカー症候群 Dandy-Walker syndrome https://monarchinitiative.org/MONDO:0009072 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 起立性低血圧1 orthostatic hypotension 1 https://monarchinitiative.org/MONDO:0009123 NANDO:2200768 http://nanbyodata.jp/ontology/NANDO_2200768 疣贅状表皮発育異常症 Epidermodysplasia verruciformis MONDO:0009176 http://www.w3.org/2004/02/skos/core#exactMatch 疣贅状表皮発育異常症 epidermodysplasia verruciformis https://monarchinitiative.org/MONDO:0009176 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症32B immunodeficiency 32B https://monarchinitiative.org/MONDO:0009194 NANDO:2200565 http://nanbyodata.jp/ontology/NANDO_2200565 ファーバー病 Farber disease MONDO:0009218 http://www.w3.org/2004/02/skos/core#exactMatch ファーバー脂肪肉芽腫症 Farber lipogranulomatosis https://monarchinitiative.org/MONDO:0009218 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 先天性高分子キニノーゲン欠損症 congenital high-molecular-weight kininogen deficiency https://monarchinitiative.org/MONDO:0009234 NANDO:2200592 http://nanbyodata.jp/ontology/NANDO_2200592 先天性葉酸吸収不全症 Hereditary folate malabsorption MONDO:0009238 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性葉酸吸収不良症 hereditary folate malabsorption https://monarchinitiative.org/MONDO:0009238 NANDO:2200553 http://nanbyodata.jp/ontology/NANDO_2200553 フコシドーシス Fucosidosis MONDO:0009254 http://www.w3.org/2004/02/skos/core#exactMatch フコシドーシス fucosidosis https://monarchinitiative.org/MONDO:0009254 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ベルナール・スーリエ症候群 Bernard-Soulier syndrome https://monarchinitiative.org/MONDO:0009276 NANDO:2200569 http://nanbyodata.jp/ontology/NANDO_2200569 ポンペ病 Pompe disease MONDO:0009290 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病II glycogen storage disease II https://monarchinitiative.org/MONDO:0009290 NANDO:2200680 http://nanbyodata.jp/ontology/NANDO_2200680 第XII因子欠乏症 Factor XII deficiency MONDO:0009315 http://www.w3.org/2004/02/skos/core#exactMatch 先天性第XII因子欠乏症 congenital factor XII deficiency https://monarchinitiative.org/MONDO:0009315 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 肝静脈閉塞症-免疫不全症候群 hepatic veno-occlusive disease-immunodeficiency syndrome https://monarchinitiative.org/MONDO:0009338 NANDO:2200711 http://nanbyodata.jp/ontology/NANDO_2200711 シムケ症候群 Schimke syndrome 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 https://monarchinitiative.org/MONDO:0009458 NANDO:2200564 http://nanbyodata.jp/ontology/NANDO_2200564 クラッベ病 Krabbe disease MONDO:0009499 http://www.w3.org/2004/02/skos/core#exactMatch クラッベ病 Krabbe disease https://monarchinitiative.org/MONDO:0009499 NANDO:2200608 http://nanbyodata.jp/ontology/NANDO_2200608 リポイドタンパク症 Lipoid proteinosis MONDO:0009530 http://www.w3.org/2004/02/skos/core#exactMatch リポイドタンパク症 lipoid proteinosis https://monarchinitiative.org/MONDO:0009530 NANDO:2200827 http://nanbyodata.jp/ontology/NANDO_2200827 神経皮膚黒色症 Neurocutaneous melanosis MONDO:0009578 http://www.w3.org/2004/02/skos/core#exactMatch 神経皮膚黒色腫症 neurocutaneous melanocytosis https://monarchinitiative.org/MONDO:0009578 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://www.w3.org/2004/02/skos/core#exactMatch ナイミーヘン染色体不安定症候群 Nijmegen breakage syndrome https://monarchinitiative.org/MONDO:0009623 NANDO:2200567 http://nanbyodata.jp/ontology/NANDO_2200567 ムコリピドーシスII型 Mucolipidosis II MONDO:0009650 http://www.w3.org/2004/02/skos/core#exactMatch ムコリピドーシスII型 mucolipidosis type II https://monarchinitiative.org/MONDO:0009650 NANDO:2200552 http://nanbyodata.jp/ontology/NANDO_2200552 ムコ多糖症VII型 Mucopolysaccharidosis type VII MONDO:0009662 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症7型 mucopolysaccharidosis type 7 https://monarchinitiative.org/MONDO:0009662 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 筋ジストロフィー-ジストログリカノパチー（脳および眼の奇形を伴う先天性）, A型, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 https://monarchinitiative.org/MONDO:0009678 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ミエロペルオキシダーゼ欠損症 myeloperoxidase deficiency https://monarchinitiative.org/MONDO:0009694 NANDO:2201024 http://nanbyodata.jp/ontology/NANDO_2201024 骨斑紋症 Osteopoikilosis MONDO:0001414 http://www.w3.org/2004/02/skos/core#exactMatch 骨斑紋症 osteopoikilosis https://monarchinitiative.org/MONDO:0001414 NANDO:2201032 http://nanbyodata.jp/ontology/NANDO_2201032 リンパ管腫 Lymphangioma MONDO:0002013 http://www.w3.org/2004/02/skos/core#exactMatch リンパ管腫 lymphangioma https://monarchinitiative.org/MONDO:0002013 NANDO:2201022 http://nanbyodata.jp/ontology/NANDO_2201022 骨硬化性疾患 Osteosclerotic diseases MONDO:0002933 http://www.w3.org/2004/02/skos/core#exactMatch 骨硬化症 osteosclerosis https://monarchinitiative.org/MONDO:0002933 NANDO:2201038 http://nanbyodata.jp/ontology/NANDO_2201038 両側性網膜芽細胞腫 Bilateral retinoblastoma MONDO:0003075 http://www.w3.org/2004/02/skos/core#exactMatch 両側性網膜芽細胞腫 bilateral retinoblastoma https://monarchinitiative.org/MONDO:0003075 NANDO:2200921 http://nanbyodata.jp/ontology/NANDO_2200921 クローン病 Crohn's disease MONDO:0005011 http://www.w3.org/2004/02/skos/core#exactMatch クローン病 Crohn disease https://monarchinitiative.org/MONDO:0005011 NANDO:2200938 http://nanbyodata.jp/ontology/NANDO_2200938 門脈圧亢進症 Portal hypertension MONDO:0005080 http://www.w3.org/2004/02/skos/core#exactMatch 門脈圧亢進症 portal hypertension https://monarchinitiative.org/MONDO:0005080 NANDO:2200920 http://nanbyodata.jp/ontology/NANDO_2200920 潰瘍性大腸炎 Ulcerative colitis MONDO:0005101 http://www.w3.org/2004/02/skos/core#exactMatch 潰瘍性大腸炎 ulcerative colitis https://monarchinitiative.org/MONDO:0005101 NANDO:2200937 http://nanbyodata.jp/ontology/NANDO_2200937 肝硬変症 Liver cirrhosis MONDO:0005155 http://www.w3.org/2004/02/skos/core#exactMatch 肝硬変 cirrhosis of liver https://monarchinitiative.org/MONDO:0005155 NANDO:2200904 http://nanbyodata.jp/ontology/NANDO_2200904 多発性硬化症 Multiple sclerosis MONDO:0005301 http://www.w3.org/2004/02/skos/core#exactMatch 多発性硬化症 multiple sclerosis https://monarchinitiative.org/MONDO:0005301 NANDO:2201015 http://nanbyodata.jp/ontology/NANDO_2201015 内軟骨腫症 Enchondromatosis MONDO:0005508 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性多発性骨軟骨腫 hereditary multiple osteochondromas https://monarchinitiative.org/MONDO:0005508 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 先天性トキソプラズマ症 congenital toxoplasmosis https://monarchinitiative.org/MONDO:0005715 NANDO:2201000 http://nanbyodata.jp/ontology/NANDO_2201000 表皮水疱症 Epidermolysis bullosa MONDO:0006541 http://www.w3.org/2004/02/skos/core#exactMatch 表皮水疱症 epidermolysis bullosa https://monarchinitiative.org/MONDO:0006541 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://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 https://monarchinitiative.org/MONDO:0006702 NANDO:2201009 http://nanbyodata.jp/ontology/NANDO_2201009 軟骨無形成症 Achondroplasia MONDO:0007037 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨無形成症 achondroplasia https://monarchinitiative.org/MONDO:0007037 NANDO:2200976 http://nanbyodata.jp/ontology/NANDO_2200976 ファイファー症候群 Pfeiffer syndrome MONDO:0007043 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群 Pfeiffer syndrome https://monarchinitiative.org/MONDO:0007043 NANDO:2200960 http://nanbyodata.jp/ontology/NANDO_2200960 アンジェルマン症候群 Angelman syndrome MONDO:0007113 http://www.w3.org/2004/02/skos/core#exactMatch アンジェルマン症候群 Angelman syndrome https://monarchinitiative.org/MONDO:0007113 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 青色ゴムまり様母斑 blue rubber bleb nevus https://monarchinitiative.org/MONDO:0007203 NANDO:2200931 http://nanbyodata.jp/ontology/NANDO_2200931 アラジール症候群 Alagille syndrome MONDO:0007318 http://www.w3.org/2004/02/skos/core#exactMatch アラジール症候群 Alagille syndrome https://monarchinitiative.org/MONDO:0007318 NANDO:2201026 http://nanbyodata.jp/ontology/NANDO_2201026 ビールズ症候群 Beals syndrome MONDO:0007363 http://www.w3.org/2004/02/skos/core#exactMatch 先天性拘縮性クモ指症 congenital contractural arachnodactyly https://monarchinitiative.org/MONDO:0007363 NANDO:2200961 http://nanbyodata.jp/ontology/NANDO_2200961 5p-症候群 5p- syndrome MONDO:0007404 http://www.w3.org/2004/02/skos/core#exactMatch ネコ鳴き症候群 Cri-du-chat syndrome https://monarchinitiative.org/MONDO:0007404 NANDO:2201050 http://nanbyodata.jp/ontology/NANDO_2201050 家族性中枢性尿崩症 Familial central diabetes insipidus MONDO:0007450 http://www.w3.org/2004/02/skos/core#exactMatch 神経下垂体性尿崩症 neurohypophyseal diabetes insipidus https://monarchinitiative.org/MONDO:0007450 NANDO:2201069 http://nanbyodata.jp/ontology/NANDO_2201069 MODY1 Maturity-onset diabetes of the young type 1 MONDO:0007452 http://www.w3.org/2004/02/skos/core#exactMatch 若年発症成人型糖尿病1型 maturity-onset diabetes of the young type 1 https://monarchinitiative.org/MONDO:0007452 NANDO:2201070 http://nanbyodata.jp/ontology/NANDO_2201070 MODY2 Maturity-onset diabetes of the young type 2 MONDO:0007453 http://www.w3.org/2004/02/skos/core#exactMatch 若年発症成人型糖尿病2型 maturity-onset diabetes of the young type 2 https://monarchinitiative.org/MONDO:0007453 NANDO:2200884 http://nanbyodata.jp/ontology/NANDO_2200884 変形性筋ジストニー Dystonia musculorum deformans 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 https://monarchinitiative.org/MONDO:0007492 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://www.w3.org/2004/02/skos/core#exactMatch ベックウィズ・ヴィーデマン症候群 Beckwith-Wiedemann syndrome https://monarchinitiative.org/MONDO:0007534 NANDO:2200970 http://nanbyodata.jp/ontology/NANDO_2200970 カムラティ・エンゲルマン症候群 Camurati-Engelmann disease MONDO:0007542 http://www.w3.org/2004/02/skos/core#exactMatch カムラティ・エンゲルマン症候群 Camurati-Engelmann disease https://monarchinitiative.org/MONDO:0007542 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 進行性骨化性線維異形成症 fibrodysplasia ossificans progressiva https://monarchinitiative.org/MONDO:0007606 NANDO:2201073 http://nanbyodata.jp/ontology/NANDO_2201073 MODY5 Maturity-onset diabetes of the young type 5 MONDO:0007669 http://www.w3.org/2004/02/skos/core#exactMatch 腎嚢胞および糖尿病症候群 renal cysts and diabetes syndrome https://monarchinitiative.org/MONDO:0007669 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch カサバッハ・メリット症候群 Kasabach-Merritt syndrome https://monarchinitiative.org/MONDO:0007708 NANDO:2201010 http://nanbyodata.jp/ontology/NANDO_2201010 軟骨低形成症 Hypochondroplasia MONDO:0007793 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨低形成症 hypochondroplasia https://monarchinitiative.org/MONDO:0007793 NANDO:2200990 http://nanbyodata.jp/ontology/NANDO_2200990 表在性表皮融解性魚鱗癬 Superficial epidermolytic ichthyosis MONDO:0007813 http://www.w3.org/2004/02/skos/core#exactMatch 表在性表皮融解性魚鱗癬 superficial epidermolytic ichthyosis https://monarchinitiative.org/MONDO:0007813 NANDO:2201030 http://nanbyodata.jp/ontology/NANDO_2201030 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://www.w3.org/2004/02/skos/core#exactMatch 血管骨肥大症候群 angioosteohypertrophic syndrome https://monarchinitiative.org/MONDO:0007864 NANDO:2201019 http://nanbyodata.jp/ontology/NANDO_2201019 ラーセン症候群 Larsen syndrome MONDO:0007875 http://www.w3.org/2004/02/skos/core#exactMatch ラーセン症候群 Larsen syndrome https://monarchinitiative.org/MONDO:0007875 NANDO:2200968 http://nanbyodata.jp/ontology/NANDO_2200968 マルファン症候群 Marfan syndrome MONDO:0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome https://monarchinitiative.org/MONDO:0007947 NANDO:2200980 http://nanbyodata.jp/ontology/NANDO_2200980 メビウス症候群 Moebius syndrome MONDO:0008006 http://www.w3.org/2004/02/skos/core#exactMatch メビウス症候群 Mobius syndrome https://monarchinitiative.org/MONDO:0008006 NANDO:2201053 http://nanbyodata.jp/ontology/NANDO_2201053 MEN2B Multiple endocrine neoplasia type 2B MONDO:0008082 http://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍2B型 multiple endocrine neoplasia type 2B https://monarchinitiative.org/MONDO:0008082 NANDO:2201015 http://nanbyodata.jp/ontology/NANDO_2201015 内軟骨腫症 Enchondromatosis MONDO:0008145 http://www.w3.org/2004/02/skos/core#exactMatch オリエ病 Ollier disease https://monarchinitiative.org/MONDO:0008145 NANDO:2200942 http://nanbyodata.jp/ontology/NANDO_2200942 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性慢性膵炎 hereditary chronic pancreatitis https://monarchinitiative.org/MONDO:0008185 NANDO:2201052 http://nanbyodata.jp/ontology/NANDO_2201052 MEN2A Multiple endocrine neoplasia type 2A MONDO:0008234 http://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍2A型 multiple endocrine neoplasia type 2A https://monarchinitiative.org/MONDO:0008234 NANDO:2200917 http://nanbyodata.jp/ontology/NANDO_2200917 ポイツ・ジェガース症候群 Peutz-Jeghers syndrome MONDO:0008280 http://www.w3.org/2004/02/skos/core#exactMatch ポイツ・ジェガース症候群 Peutz-Jeghers syndrome https://monarchinitiative.org/MONDO:0008280 NANDO:2201018 http://nanbyodata.jp/ontology/NANDO_2201018 偽性軟骨無形成症 Pseudoachondroplasia MONDO:0008322 http://www.w3.org/2004/02/skos/core#exactMatch 偽性軟骨無形成症 pseudoachondroplasia https://monarchinitiative.org/MONDO:0008322 NANDO:2200954 http://nanbyodata.jp/ontology/NANDO_2200954 スミス・マギニス症候群 Smith-Magenis syndrome MONDO:0008434 http://www.w3.org/2004/02/skos/core#exactMatch スミス・マゲニス症候群 Smith-Magenis syndrome https://monarchinitiative.org/MONDO:0008434 NANDO:2200965 http://nanbyodata.jp/ontology/NANDO_2200965 ダウン症候群 Down syndrome MONDO:0008608 http://www.w3.org/2004/02/skos/core#exactMatch ダウン症候群 Down syndrome https://monarchinitiative.org/MONDO:0008608 NANDO:2201067 http://nanbyodata.jp/ontology/NANDO_2201067 マックル・ウェルズ症候群 Muckle-Wells syndrome MONDO:0008633 http://www.w3.org/2004/02/skos/core#exactMatch マックル・ウェルズ症候群 Muckle-Wells syndrome https://monarchinitiative.org/MONDO:0008633 NANDO:2200983 http://nanbyodata.jp/ontology/NANDO_2200983 VATER症候群 VATER syndrome MONDO:0008642 http://www.w3.org/2004/02/skos/core#exactMatch VATER/VATER連合 VACTERL/vater association https://monarchinitiative.org/MONDO:0008642 NANDO:2200962 http://nanbyodata.jp/ontology/NANDO_2200962 4p-症候群 4p- Syndrome MONDO:0008684 http://www.w3.org/2004/02/skos/core#exactMatch ウォルフ・ヒルシュホーン症候群 Wolf-Hirschhorn syndrome https://monarchinitiative.org/MONDO:0008684 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch アントレー・ビクスラー症候群 Antley-Bixler syndrome https://monarchinitiative.org/MONDO:0008803 NANDO:2200930 http://nanbyodata.jp/ontology/NANDO_2200930 胆道閉鎖症 biliary atresia MONDO:0008867 http://www.w3.org/2004/02/skos/core#exactMatch 胆道閉鎖症 biliary atresia https://monarchinitiative.org/MONDO:0008867 NANDO:2201040 http://nanbyodata.jp/ontology/NANDO_2201040 気管支軟化症 Bronchomalacia MONDO:0008888 http://www.w3.org/2004/02/skos/core#exactMatch Williams-Campbell症候群 Williams-Campbell syndrome https://monarchinitiative.org/MONDO:0008888 NANDO:2200972 http://nanbyodata.jp/ontology/NANDO_2200972 チャージ症候群 CHARGE syndrome MONDO:0008965 http://www.w3.org/2004/02/skos/core#exactMatch CHARGE症候群 CHARGE syndrome https://monarchinitiative.org/MONDO:0008965 NANDO:2200971 http://nanbyodata.jp/ontology/NANDO_2200971 コステロ症候群 Costello syndrome MONDO:0009026 http://www.w3.org/2004/02/skos/core#exactMatch コステロ症候群 Costello syndrome https://monarchinitiative.org/MONDO:0009026 NANDO:2200941 http://nanbyodata.jp/ontology/NANDO_2200941 クリグラー・ナジャー症候群 Crigler-Najjar syndrome MONDO:0009044 http://www.w3.org/2004/02/skos/core#exactMatch クリグラー・ナジャー症候群 Crigler-Najjar syndrome https://monarchinitiative.org/MONDO:0009044 NANDO:2200908 http://nanbyodata.jp/ontology/NANDO_2200908 ショ糖イソ麦芽糖分解酵素欠損症 Congenital sucrase-isomaltase deficiency MONDO:0009114 http://www.w3.org/2004/02/skos/core#exactMatch ショ糖イソ麦芽糖分解酵素欠損症 congenital sucrase-isomaltase deficiency https://monarchinitiative.org/MONDO:0009114 NANDO:2200910 http://nanbyodata.jp/ontology/NANDO_2200910 エンテロキナーゼ欠損症 Enterokinase deficiency MONDO:0009173 http://www.w3.org/2004/02/skos/core#exactMatch エンテロキナーゼ欠損症による先天性腸疾患 congenital enteropathy due to enteropeptidase deficiency https://monarchinitiative.org/MONDO:0009173 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス1型 GM1 gangliosidosis type 1 https://monarchinitiative.org/MONDO:0009260 NANDO:2201197 http://nanbyodata.jp/ontology/NANDO_2201197 若年型GM1-ガングリオシドーシス GM1 gangliosidosis, juvenile form MONDO:0009261 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス2型 GM1 gangliosidosis type 2 https://monarchinitiative.org/MONDO:0009261 NANDO:2201198 http://nanbyodata.jp/ontology/NANDO_2201198 成人型GM1-ガングリオシドーシス GM1 gangliosidosis, adult form MONDO:0009262 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス3型 GM1 gangliosidosis type 3 https://monarchinitiative.org/MONDO:0009262 NANDO:2201210 http://nanbyodata.jp/ontology/NANDO_2201210 ゴーシェ病1型 Gaucher disease type 1 MONDO:0009265 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病I型 Gaucher disease type I https://monarchinitiative.org/MONDO:0009265 NANDO:2201211 http://nanbyodata.jp/ontology/NANDO_2201211 ゴーシェ病2型 Gaucher disease type 2 MONDO:0009266 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病II型 Gaucher disease type II https://monarchinitiative.org/MONDO:0009266 NANDO:2201212 http://nanbyodata.jp/ontology/NANDO_2201212 ゴーシェ病3型 Gaucher disease type 3 MONDO:0009267 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病III型 Gaucher disease type III https://monarchinitiative.org/MONDO:0009267 NANDO:2200927 http://nanbyodata.jp/ontology/NANDO_2200927 新生児ヘモクロマトーシス Neonatal hemochromatosis MONDO:0009275 http://www.w3.org/2004/02/skos/core#exactMatch 新生児ヘモクロマトーシス neonatal hemochromatosis https://monarchinitiative.org/MONDO:0009275 NANDO:2201153 http://nanbyodata.jp/ontology/NANDO_2201153 糖原病Ia型 Glycogen storage disease type 1a MONDO:0009287 http://www.w3.org/2004/02/skos/core#exactMatch グルコース-6-ホスファターゼ欠損による糖原病IA型 glycogen storage disease due to glucose-6-phosphatase deficiency type IA https://monarchinitiative.org/MONDO:0009287 NANDO:2201154 http://nanbyodata.jp/ontology/NANDO_2201154 糖原病Ib型 Glycogen storage disease type 1b MONDO:0009288 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病Ib glycogen storage disease Ib https://monarchinitiative.org/MONDO:0009288 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch Hallermann-Streiff症候群 Hallermann-Streiff syndrome https://monarchinitiative.org/MONDO:0009318 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://www.w3.org/2004/02/skos/core#exactMatch パントテン酸キナーゼ関連神経変性症 pantothenate kinase-associated neurodegeneration https://monarchinitiative.org/MONDO:0009319 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch モワット・ウィルソン症候群 Mowat-Wilson syndrome https://monarchinitiative.org/MONDO:0009341 NANDO:2201109 http://nanbyodata.jp/ontology/NANDO_2201109 コバラミン代謝異常 cblE Methylcobalamin deficiency cblE type MONDO:0009354 http://www.w3.org/2004/02/skos/core#exactMatch メチルコバラミン欠乏症cblE型 methylcobalamin deficiency type cblE https://monarchinitiative.org/MONDO:0009354 NANDO:2201151 http://nanbyodata.jp/ontology/NANDO_2201151 糖原病0a型 Glycogen storage disease type 0a MONDO:0009414 http://www.w3.org/2004/02/skos/core#exactMatch 肝グリコーゲン合成酵素欠損による糖原病 glycogen storage disorder due to hepatic glycogen synthase deficiency https://monarchinitiative.org/MONDO:0009414 NANDO:2200992 http://nanbyodata.jp/ontology/NANDO_2200992 道化師様魚鱗癬 Harlequin ichthyosis MONDO:0009443 http://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性先天性魚鱗癬4B autosomal recessive congenital ichthyosis 4B https://monarchinitiative.org/MONDO:0009443 NANDO:2201190 http://nanbyodata.jp/ontology/NANDO_2201190 β-マンノシドーシス Beta-mannosidosis MONDO:0009562 http://www.w3.org/2004/02/skos/core#exactMatch β-マンノシドーシス beta-mannosidosis https://monarchinitiative.org/MONDO:0009562 NANDO:2201205 http://nanbyodata.jp/ontology/NANDO_2201205 サポシンB欠損症 Saposin B deficiency MONDO:0009590 http://www.w3.org/2004/02/skos/core#exactMatch サポシンB欠損性異染性白質ジストロフィー metachromatic leukodystrophy due to saposin B deficiency https://monarchinitiative.org/MONDO:0009590 NANDO:2201203 http://nanbyodata.jp/ontology/NANDO_2201203 若年型異染性白質ジストロフィー Metachromatic leukodystrophy, juvenile form MONDO:0009591 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 若年型 metachromatic leukodystrophy, juvenile form https://monarchinitiative.org/MONDO:0009591 NANDO:2201111 http://nanbyodata.jp/ontology/NANDO_2201111 コバラミン代謝異常 cblG Methylcobalamin deficiency cblG type MONDO:0009609 http://www.w3.org/2004/02/skos/core#exactMatch メチルコバラミン欠乏症cblG型 methylcobalamin deficiency type cblG https://monarchinitiative.org/MONDO:0009609 NANDO:2201105 http://nanbyodata.jp/ontology/NANDO_2201105 コバラミン代謝異常 cblA Methylmalonic acidemia cblA type MONDO:0009613 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸血症cblA型 methylmalonic aciduria, cblA type https://monarchinitiative.org/MONDO:0009613 NANDO:2201106 http://nanbyodata.jp/ontology/NANDO_2201106 コバラミン代謝異常 cblB Methylmalonic acidemia cblB type MONDO:0009614 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸血症cblB型 methylmalonic aciduria, cblB type https://monarchinitiative.org/MONDO:0009614 NANDO:2200913 http://nanbyodata.jp/ontology/NANDO_2200913 微絨毛封入体病 Microvillus inclusion disease MONDO:0009635 http://www.w3.org/2004/02/skos/core#exactMatch 微絨毛封入体病 microvillus inclusion disease https://monarchinitiative.org/MONDO:0009635 NANDO:2201174 http://nanbyodata.jp/ontology/NANDO_2201174 A型ムコ多糖症III型 Mucopolysaccharidosis type III A MONDO:0009655 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3A型 mucopolysaccharidosis type 3A https://monarchinitiative.org/MONDO:0009655 NANDO:2201175 http://nanbyodata.jp/ontology/NANDO_2201175 B型ムコ多糖症III型 Mucopolysaccharidosis type III B MONDO:0009656 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 10型 mucopolysaccharidosis type 3B https://monarchinitiative.org/MONDO:0009656 NANDO:2201176 http://nanbyodata.jp/ontology/NANDO_2201176 C型ムコ多糖症III型 Mucopolysaccharidosis type III C MONDO:0009657 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3B型 mucopolysaccharidosis type 3C https://monarchinitiative.org/MONDO:0009657 NANDO:2201177 http://nanbyodata.jp/ontology/NANDO_2201177 D型ムコ多糖症III型 Mucopolysaccharidosis type III D MONDO:0009658 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症, 3C型 mucopolysaccharidosis type 3D https://monarchinitiative.org/MONDO:0009658 NANDO:2201178 http://nanbyodata.jp/ontology/NANDO_2201178 A型ムコ多糖症IV型 Mucopolysaccharidosis type IV A MONDO:0009659 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4A型 mucopolysaccharidosis type 4A https://monarchinitiative.org/MONDO:0009659 NANDO:2201179 http://nanbyodata.jp/ontology/NANDO_2201179 B型ムコ多糖症IV型 Mucopolysaccharidosis type IV B MONDO:0009660 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4B型 mucopolysaccharidosis type 4B https://monarchinitiative.org/MONDO:0009660 NANDO:2200906 http://nanbyodata.jp/ontology/NANDO_2200906 重症筋無力症 Myasthenia gravis MONDO:0009688 http://www.w3.org/2004/02/skos/core#exactMatch 重症筋無力症 myasthenia gravis https://monarchinitiative.org/MONDO:0009688 NANDO:2200881 http://nanbyodata.jp/ontology/NANDO_2200881 ラフォラ病 Lafora disease MONDO:0009697 http://www.w3.org/2004/02/skos/core#exactMatch ラフォラ病 Lafora disease https://monarchinitiative.org/MONDO:0009697 NANDO:2201321 http://nanbyodata.jp/ontology/NANDO_2201321 二次性進行型多発性硬化症 Secondary progressive multiple sclerosis MONDO:0000450 http://www.w3.org/2004/02/skos/core#exactMatch 二次性進行型多発性硬化症 secondary progressive multiple sclerosis https://monarchinitiative.org/MONDO:0000450 NANDO:2201320 http://nanbyodata.jp/ontology/NANDO_2201320 一次性進行型多発性硬化症 Primary progressive multiple sclerosis MONDO:0000451 http://www.w3.org/2004/02/skos/core#exactMatch 一次性進行型多発性硬化症 primary progressive multiple sclerosis https://monarchinitiative.org/MONDO:0000451 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://www.w3.org/2004/02/skos/core#exactMatch 家族性周期性四肢麻痺 familial periodic paralysis https://monarchinitiative.org/MONDO:0000995 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 赤芽球性プロトポルフィリン症 erythropoietic protoporphyria https://monarchinitiative.org/MONDO:0001676 NANDO:2201275 http://nanbyodata.jp/ontology/NANDO_2201275 先天性再生不良性貧血 Congenital aplastic anemia MONDO:0001713 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性再生不良性貧血 inherited aplastic anemia https://monarchinitiative.org/MONDO:0001713 NANDO:2201453 http://nanbyodata.jp/ontology/NANDO_2201453 Jervell Lange Nielsen症候群 Jervell Lange Nielsen syndrome MONDO:0002441 http://www.w3.org/2004/02/skos/core#exactMatch ジャーベル・ランゲ・ニールセン症候群 Jervell and Lange-Nielsen syndrome https://monarchinitiative.org/MONDO:0002441 NANDO:2201319 http://nanbyodata.jp/ontology/NANDO_2201319 再発寛解型多発性硬化症 Relapsing-remitting multiple sclerosis MONDO:0005314 http://www.w3.org/2004/02/skos/core#exactMatch 再発寛解型多発性硬化症 relapsing-remitting multiple sclerosis https://monarchinitiative.org/MONDO:0005314 NANDO:2201439 http://nanbyodata.jp/ontology/NANDO_2201439 好酸球性食道炎 Eosinophilic esophagitis MONDO:0005361 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性食道炎 eosinophilic esophagitis https://monarchinitiative.org/MONDO:0005361 NANDO:2201444 http://nanbyodata.jp/ontology/NANDO_2201444 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0006536 http://www.w3.org/2004/02/skos/core#exactMatch 先天性全身性リポジストロフィー congenital generalized lipodystrophy https://monarchinitiative.org/MONDO:0006536 NANDO:2201391 http://nanbyodata.jp/ontology/NANDO_2201391 鰓耳腎症候群 Branchio-oto-renal syndrome MONDO:0007029 http://www.w3.org/2004/02/skos/core#exactMatch 鰓耳腎症候群 branchio-oto-renal syndrome https://monarchinitiative.org/MONDO:0007029 NANDO:2201354 http://nanbyodata.jp/ontology/NANDO_2201354 Stickler症候群1型 Stickler syndrome type 1 MONDO:0007160 http://www.w3.org/2004/02/skos/core#exactMatch スティックラー症候群1型 Stickler syndrome type 1 https://monarchinitiative.org/MONDO:0007160 NANDO:2201359 http://nanbyodata.jp/ontology/NANDO_2201359 脛骨・中手骨型点状軟骨異形成症 Chondrodysplasia punctata, tibial-metacarpal type MONDO:0007322 http://www.w3.org/2004/02/skos/core#exactMatch 点状軟骨異形成症, 脛骨-中手骨型 chondrodysplasia punctata, tibial-metacarpal type https://monarchinitiative.org/MONDO:0007322 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 遺伝性コプロポルフィリン症 hereditary coproporphyria https://monarchinitiative.org/MONDO:0007369 NANDO:2201256 http://nanbyodata.jp/ontology/NANDO_2201256 古典型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, classical type MONDO:0007522 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 古典型 Ehlers-Danlos syndrome, classic type https://monarchinitiative.org/MONDO:0007522 NANDO:2201257 http://nanbyodata.jp/ontology/NANDO_2201257 関節型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, hypermobility type MONDO:0007523 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 関節過可動型 Ehlers-Danlos syndrome, hypermobility type https://monarchinitiative.org/MONDO:0007523 NANDO:2201260 http://nanbyodata.jp/ontology/NANDO_2201260 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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 多発関節弛緩型 Ehlers-Danlos syndrome, arthrochalasia type https://monarchinitiative.org/MONDO:0007525 NANDO:2201392 http://nanbyodata.jp/ontology/NANDO_2201392 ホルト・オーラム症候群 Holt-Oram syndrome MONDO:0007732 http://www.w3.org/2004/02/skos/core#exactMatch ホルト・オーラム症候群 Holt-Oram syndrome https://monarchinitiative.org/MONDO:0007732 NANDO:2201347 http://nanbyodata.jp/ontology/NANDO_2201347 扁平椎異形成症 Torrance型 Platyspondylic dysplasia, Torrance type 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 https://monarchinitiative.org/MONDO:0007895 NANDO:1201158 http://nanbyodata.jp/ontology/NANDO_1201158 マルファン症候群 Marfan syndrome MONDO:0007947 http://www.w3.org/2004/02/skos/core#exactMatch マルファン症候群 Marfan syndrome https://monarchinitiative.org/MONDO:0007947 NANDO:2201364 http://nanbyodata.jp/ontology/NANDO_2201364 流蝋骨症 Melorheostosis MONDO:0007970 http://www.w3.org/2004/02/skos/core#exactMatch メロレオストーシス melorheostosis https://monarchinitiative.org/MONDO:0007970 NANDO:2201350 http://nanbyodata.jp/ontology/NANDO_2201350 Kniest異形成症 Kniest dysplasia MONDO:0007987 http://www.w3.org/2004/02/skos/core#exactMatch クニースト骨異形成症 Kniest dysplasia https://monarchinitiative.org/MONDO:0007987 NANDO:1201132 http://nanbyodata.jp/ontology/NANDO_1201132 若年性皮膚筋炎 juvnile dermatomyositis MONDO:0008054 http://www.w3.org/2004/02/skos/core#exactMatch 若年性皮膚筋炎 juvenile dermatomyositis https://monarchinitiative.org/MONDO:0008054 NANDO:2201512 http://nanbyodata.jp/ontology/NANDO_2201512 先天性パラミオトニー Paramyotonia congenita MONDO:0008195 http://www.w3.org/2004/02/skos/core#exactMatch Von Eulenburg先天性パラミオトニア paramyotonia congenita of Von Eulenburg https://monarchinitiative.org/MONDO:0008195 NANDO:2201515 http://nanbyodata.jp/ontology/NANDO_2201515 遺伝性低カリウム性周期性四肢麻痺 Hereditary hypokalemic periodic paralysis MONDO:0008223 http://www.w3.org/2004/02/skos/core#exactMatch 低カリウム性周期性四肢麻痺 hypokalemic periodic paralysis https://monarchinitiative.org/MONDO:0008223 NANDO:2201514 http://nanbyodata.jp/ontology/NANDO_2201514 遺伝性高カリウム性周期性四肢麻痺 Hereditary hyperkalemic periodic paralysis MONDO:0008224 http://www.w3.org/2004/02/skos/core#exactMatch 高カリウム性周期性四肢麻痺 hyperkalemic periodic paralysis https://monarchinitiative.org/MONDO:0008224 NANDO: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://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 https://monarchinitiative.org/MONDO:0008264 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://www.w3.org/2004/02/skos/core#exactMatch 急性間欠性ポルフィリン症 acute intermittent porphyria https://monarchinitiative.org/MONDO:0008294 NANDO:2201265 http://nanbyodata.jp/ontology/NANDO_2201265 異型ポルフィリン症 Variegate porphyria MONDO:0008297 http://www.w3.org/2004/02/skos/core#exactMatch 異型ポルフィリン症 variegate porphyria https://monarchinitiative.org/MONDO:0008297 NANDO:2201348 http://nanbyodata.jp/ontology/NANDO_2201348 先天性脊椎骨端異形成症 Spondyloepiphyseal dysplasia congenita MONDO:0008471 http://www.w3.org/2004/02/skos/core#exactMatch 先天性脊椎骨端異形成症 spondyloepiphyseal dysplasia congenita https://monarchinitiative.org/MONDO:0008471 NANDO:2201349 http://nanbyodata.jp/ontology/NANDO_2201349 脊椎骨端骨幹端異形成症 Strudwick型 Spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0008476 http://www.w3.org/2004/02/skos/core#exactMatch 脊椎骨端骨幹端異形成症, Strudwick型 spondyloepimetaphyseal dysplasia, Strudwick type https://monarchinitiative.org/MONDO:0008476 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症1型 thanatophoric dysplasia type 1 https://monarchinitiative.org/MONDO:0008546 NANDO:2201428 http://nanbyodata.jp/ontology/NANDO_2201428 タナトフォリック骨異形成症2型 Thanatophoric dysplasia type 2 MONDO:0008547 http://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症2型 thanatophoric dysplasia type 2 https://monarchinitiative.org/MONDO:0008547 NANDO:2201345 http://nanbyodata.jp/ontology/NANDO_2201345 軟骨無発生症2型 Achondrogenesis type 2 MONDO:0008702 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨無発生症II型 achondrogenesis type II https://monarchinitiative.org/MONDO:0008702 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 極長鎖アシルCoA脱水素酵素欠損症 very long chain acyl-CoA dehydrogenase deficiency https://monarchinitiative.org/MONDO:0008723 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞1型 progressive familial intrahepatic cholestasis type 1 https://monarchinitiative.org/MONDO:0008892 NANDO:2201361 http://nanbyodata.jp/ontology/NANDO_2201361 Greenberg骨異形成症 Greenberg dysplasia MONDO:0008974 http://www.w3.org/2004/02/skos/core#exactMatch Greenberg骨異形成症 Greenberg dysplasia https://monarchinitiative.org/MONDO:0008974 NANDO:2201418 http://nanbyodata.jp/ontology/NANDO_2201418 コーエン症候群 Cohen syndrome MONDO:0008999 http://www.w3.org/2004/02/skos/core#exactMatch コーエン症候群 Cohen syndrome https://monarchinitiative.org/MONDO:0008999 NANDO:2201368 http://nanbyodata.jp/ontology/NANDO_2201368 頭蓋骨幹異形成症 Craniodiaphyseal dysplasia MONDO:0009031 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋骨幹異形成症 craniodiaphyseal dysplasia https://monarchinitiative.org/MONDO:0009031 NANDO:2201530 http://nanbyodata.jp/ontology/NANDO_2201530 バレー・ジェロルド症候群 Baller-Gerold symdrome MONDO:0009039 http://www.w3.org/2004/02/skos/core#exactMatch バラー・ゲロルト症候群 Baller-Gerold syndrome https://monarchinitiative.org/MONDO:0009039 NANDO:2201236 http://nanbyodata.jp/ontology/NANDO_2201236 非腎型シスチン症 Non-nephropathic cystinosis MONDO:0009064 http://www.w3.org/2004/02/skos/core#exactMatch 眼型シスチン症 ocular cystinosis https://monarchinitiative.org/MONDO:0009064 NANDO:2201235 http://nanbyodata.jp/ontology/NANDO_2201235 中間型シスチン症 Intermediate cystinosis MONDO:0009066 http://www.w3.org/2004/02/skos/core#exactMatch 中間型シスチン症 juvenile nephropathic cystinosis https://monarchinitiative.org/MONDO:0009066 NANDO:2201365 http://nanbyodata.jp/ontology/NANDO_2201365 異骨性骨硬化症 Dysosteosclerosis MONDO:0009138 http://www.w3.org/2004/02/skos/core#exactMatch 硬化性骨異形成症 dysosteosclerosis https://monarchinitiative.org/MONDO:0009138 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 皮膚脆弱型 Ehlers-Danlos syndrome, dermatosparaxis type https://monarchinitiative.org/MONDO:0009161 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 劣性栄養障害型表皮水疱症 recessive dystrophic epidermolysis bullosa https://monarchinitiative.org/MONDO:0009179 NANDO:2201379 http://nanbyodata.jp/ontology/NANDO_2201379 非ヘルリッツ型表皮水疱症 Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症, 非ヘルリッツ型 junctional epidermolysis bullosa, non-Herlitz type https://monarchinitiative.org/MONDO:0009180 NANDO:2201376 http://nanbyodata.jp/ontology/NANDO_2201376 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://www.w3.org/2004/02/skos/core#exactMatch 単純型表皮水疱症5B epidermolysis bullosa simplex 5B, with muscular dystrophy https://monarchinitiative.org/MONDO:0009181 NANDO:2201378 http://nanbyodata.jp/ontology/NANDO_2201378 ヘルリッツ型表皮水疱症 Herlitz junctional epidermolysis bullosa MONDO:0009182 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症ヘルリッツ型 junctional epidermolysis bullosa Herlitz type https://monarchinitiative.org/MONDO:0009182 NANDO:2201380 http://nanbyodata.jp/ontology/NANDO_2201380 幽門閉鎖合併型表皮水疱症 Junctional epidermolysis bullosa with pyloric atresia 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 https://monarchinitiative.org/MONDO:0009183 NANDO:2201280 http://nanbyodata.jp/ontology/NANDO_2201280 p22phox欠損慢性肉芽腫症 p22phox-deficient chronic granulomatous disease MONDO:0009308 http://www.w3.org/2004/02/skos/core#exactMatch 肉芽腫症, 慢性, 常染色体潜性, シトクロムb陰性 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative https://monarchinitiative.org/MONDO:0009308 NANDO:2201281 http://nanbyodata.jp/ontology/NANDO_2201281 p47phox欠損慢性肉芽腫症 p47phox-deficient chronic granulomatous disease MONDO:0009309 http://www.w3.org/2004/02/skos/core#exactMatch 肉芽腫症, 慢性, 常染色体潜性, シトクロムb陽性, 1型 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 https://monarchinitiative.org/MONDO:0009309 NANDO:2201282 http://nanbyodata.jp/ontology/NANDO_2201282 p67phox欠損慢性肉芽腫症 p67phox-deficient chronic granulomatous disease MONDO:0009310 http://www.w3.org/2004/02/skos/core#exactMatch 肉芽腫症, 慢性, 常染色体潜性, シトクロムb陽性, 2型 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 https://monarchinitiative.org/MONDO:0009310 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 古典的ホジキンリンパ腫 classic Hodgkin lymphoma https://monarchinitiative.org/MONDO:0009348 NANDO:2201479 http://nanbyodata.jp/ontology/NANDO_2201479 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://www.w3.org/2004/02/skos/core#exactMatch 高カルシウム尿症を伴う遺伝性低リン血性くる病 hereditary hypophosphatemic rickets with hypercalciuria https://monarchinitiative.org/MONDO:0009431 NANDO:2201401 http://nanbyodata.jp/ontology/NANDO_2201401 視床下部過誤腫症候群 Hypothalamic hamartoma syndrome MONDO:0009436 http://www.w3.org/2004/02/skos/core#exactMatch 先天性視床下部過誤腫症候群 congenital hypothalamic hamartoma syndrome https://monarchinitiative.org/MONDO:0009436 NANDO:2201429 http://nanbyodata.jp/ontology/NANDO_2201429 ランドウ・クレフナー症候群 Landau-Kleffner syndrome MONDO:0009509 http://www.w3.org/2004/02/skos/core#exactMatch ランドウ・クレフナー症候群 Landau-Kleffner syndrome https://monarchinitiative.org/MONDO:0009509 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ギャロウェイ・モワト症候群 Galloway-Mowat syndrome https://monarchinitiative.org/MONDO:0009627 NANDO:2201430 http://nanbyodata.jp/ontology/NANDO_2201430 脊髄性筋萎縮症I型 Spinal muscular atrophy type I MONDO:0009669 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症1型 spinal muscular atrophy, type 1 https://monarchinitiative.org/MONDO:0009669 NANDO:2201432 http://nanbyodata.jp/ontology/NANDO_2201432 脊髄性筋萎縮症III型 Spinal muscular atrophy type III MONDO:0009672 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症III型 spinal muscular atrophy, type III https://monarchinitiative.org/MONDO:0009672 NANDO:2201431 http://nanbyodata.jp/ontology/NANDO_2201431 脊髄性筋萎縮症II型 Spinal muscular atrophy type II MONDO:0009673 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症II型 spinal muscular atrophy, type II https://monarchinitiative.org/MONDO:0009673 NANDO:1200175 http://nanbyodata.jp/ontology/NANDO_1200175 リー脳症 Leigh's encephalomyelopathy MONDO:0009723 http://www.w3.org/2004/02/skos/core#exactMatch リー症候群 Leigh syndrome https://monarchinitiative.org/MONDO:0009723 NANDO:1200119 http://nanbyodata.jp/ontology/NANDO_1200119 ガラクトシアリドーシス Galactosialidosis MONDO:0009737 http://www.w3.org/2004/02/skos/core#exactMatch ガラクトシアリドーシス galactosialidosis https://monarchinitiative.org/MONDO:0009737 NANDO:1200118 http://nanbyodata.jp/ontology/NANDO_1200118 シアリドーシスII型 Sialidosis type 2 MONDO:0009738 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス2型 sialidosis type 2 https://monarchinitiative.org/MONDO:0009738 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病A型 Niemann-Pick disease type A https://monarchinitiative.org/MONDO:0009756 NANDO:1200195 http://nanbyodata.jp/ontology/NANDO_1200195 亜急性硬化性全脳炎 Subacute sclerosing panencephalitis MONDO:0009835 http://www.w3.org/2004/02/skos/core#exactMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis https://monarchinitiative.org/MONDO:0009835 NANDO:1200072 http://nanbyodata.jp/ontology/NANDO_1200072 サンドホフ病 Sandhoff disease MONDO:0010006 http://www.w3.org/2004/02/skos/core#exactMatch サンドホフ病 Sandhoff disease https://monarchinitiative.org/MONDO:0010006 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 遊離シアル酸蓄積症, 乳児型 free sialic acid storage disease, infantile form https://monarchinitiative.org/MONDO:0010027 NANDO:1200007 http://nanbyodata.jp/ontology/NANDO_1200007 脊髄性筋萎縮症IV型 Spinal muscular atrophy type IV MONDO:0010056 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症IV型 spinal muscular atrophy, type IV https://monarchinitiative.org/MONDO:0010056 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch テイ・サックス病AB変異体 Tay-Sachs disease AB variant https://monarchinitiative.org/MONDO:0010099 NANDO:1200071 http://nanbyodata.jp/ontology/NANDO_1200071 Tay-Sachs病 Tay-Sachs disease MONDO:0010100 http://www.w3.org/2004/02/skos/core#exactMatch テイ・サックス病 Tay-Sachs disease https://monarchinitiative.org/MONDO:0010100 NANDO:1200050 http://nanbyodata.jp/ontology/NANDO_1200050 ビタミンE単独欠乏性失調症 Ataxia with isolated vitamin E deficiency MONDO:0010188 http://www.w3.org/2004/02/skos/core#exactMatch 家族性ビタミンE単独欠損症 familial isolated deficiency of vitamin E https://monarchinitiative.org/MONDO:0010188 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch X連鎖性大脳型副腎白質ジストロフィー X-linked cerebral adrenoleukodystrophy https://monarchinitiative.org/MONDO:0010247 NANDO:1200222 http://nanbyodata.jp/ontology/NANDO_1200222 ダノン病 Danon disease MONDO:0010281 http://www.w3.org/2004/02/skos/core#exactMatch ダノン病 Danon disease https://monarchinitiative.org/MONDO:0010281 NANDO:1200157 http://nanbyodata.jp/ontology/NANDO_1200157 ファブリー病 Fabry disease MONDO:0010526 http://www.w3.org/2004/02/skos/core#exactMatch ファブリー病 Fabry disease https://monarchinitiative.org/MONDO:0010526 NANDO:1200097 http://nanbyodata.jp/ontology/NANDO_1200097 Hunter症候群 Hunter syndrome MONDO:0010674 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型 mucopolysaccharidosis type 2 https://monarchinitiative.org/MONDO:0010674 NANDO:1200001 http://nanbyodata.jp/ontology/NANDO_1200001 球脊髄性筋萎縮症 Spinal and bulbar muscular atrophy MONDO:0010735 http://www.w3.org/2004/02/skos/core#exactMatch ケネディ病 Kennedy disease https://monarchinitiative.org/MONDO:0010735 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://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア脳筋症，乳酸アシドーシス，脳卒中様エピソード MELAS syndrome https://monarchinitiative.org/MONDO:0010789 NANDO:1200177 http://nanbyodata.jp/ontology/NANDO_1200177 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://www.w3.org/2004/02/skos/core#exactMatch 赤色ぼろ線維・ミオクローヌスてんかん症候群 MERRF syndrome https://monarchinitiative.org/MONDO:0010790 NANDO:1200191 http://nanbyodata.jp/ontology/NANDO_1200191 致死性家族性不眠症 Fatal familial insomnia MONDO:0010808 http://www.w3.org/2004/02/skos/core#exactMatch 致死性家族性不眠症 fatal familial insomnia https://monarchinitiative.org/MONDO:0010808 NANDO:1200115 http://nanbyodata.jp/ontology/NANDO_1200115 ヒアルロニダーゼ欠損症 Hyaluronidase deficiency MONDO:0011093 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症9型 mucopolysaccharidosis type 9 https://monarchinitiative.org/MONDO:0011093 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 縁取り空胞を伴う遠位型ミオパチー GNE myopathy https://monarchinitiative.org/MONDO:0011603 NANDO:1200094 http://nanbyodata.jp/ontology/NANDO_1200094 ハーラー病 Hurler disease MONDO:0011758 http://www.w3.org/2004/02/skos/core#exactMatch Hurler症候群 Hurler syndrome https://monarchinitiative.org/MONDO:0011758 NANDO:1200096 http://nanbyodata.jp/ontology/NANDO_1200096 ハーラー／シェイエ病 Hurler-Scheie disease MONDO:0011759 http://www.w3.org/2004/02/skos/core#exactMatch Hurler-Scheie症候群 Hurler-Scheie syndrome https://monarchinitiative.org/MONDO:0011759 NANDO:1200095 http://nanbyodata.jp/ontology/NANDO_1200095 シェイエ病 Scheie disease MONDO:0011760 http://www.w3.org/2004/02/skos/core#exactMatch Scheie症候群 Scheie syndrome https://monarchinitiative.org/MONDO:0011760 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://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病B型 Niemann-Pick disease type B https://monarchinitiative.org/MONDO:0011871 NANDO:1200135 http://nanbyodata.jp/ontology/NANDO_1200135 シンドラー病I型 Schindler disease type I MONDO:0012221 http://www.w3.org/2004/02/skos/core#exactMatch アルファ-N-アセチルガラクトサミニダーゼ欠損症1型 alpha-N-acetylgalactosaminidase deficiency type 1 https://monarchinitiative.org/MONDO:0012221 NANDO:1200136 http://nanbyodata.jp/ontology/NANDO_1200136 シンドラー病II型 Schindler disease type 2 MONDO:0012222 http://www.w3.org/2004/02/skos/core#exactMatch アルファ-N-アセチルガラクトサミニダーゼ欠損症2型 alpha-N-acetylgalactosaminidase deficiency type 2 https://monarchinitiative.org/MONDO:0012222 NANDO:1200048 http://nanbyodata.jp/ontology/NANDO_1200048 脊髄小脳失調症36型 Spinocerebellar ataxia type 36 MONDO:0013594 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄小脳失調症36型 spinocerebellar ataxia type 36 https://monarchinitiative.org/MONDO:0013594 NANDO:1200053 http://nanbyodata.jp/ontology/NANDO_1200053 痙性対麻痺（純粋型） Pure hereditary spastic paraplegia MONDO:0015149 http://www.w3.org/2004/02/skos/core#exactMatch 純粋型遺伝性痙性対麻痺 pure hereditary spastic paraplegia https://monarchinitiative.org/MONDO:0015149 NANDO:1200054 http://nanbyodata.jp/ontology/NANDO_1200054 痙性対麻痺（複合型） Complex hereditary spastic paraplegia MONDO:0015150 http://www.w3.org/2004/02/skos/core#exactMatch 複合型遺伝性痙性対麻痺 complex hereditary spastic paraplegia https://monarchinitiative.org/MONDO:0015150 NANDO:1200168 http://nanbyodata.jp/ontology/NANDO_1200168 副腎脊髄ニューロパチー Adrenomyeloneuropathy MONDO:0015339 http://www.w3.org/2004/02/skos/core#exactMatch 副腎脊髄ニューロパチー adrenomyeloneuropathy https://monarchinitiative.org/MONDO:0015339 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease https://monarchinitiative.org/MONDO:0015626 NANDO: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:0015674 http://www.w3.org/2004/02/skos/core#exactMatch 遅発性乳児型神経セロイドリポフスチン症 late infantile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0015674 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://www.w3.org/2004/02/skos/core#exactMatch 孤発性クロイツフェルト・ヤコブ病 sporadic Creutzfeldt-Jakob disease https://monarchinitiative.org/MONDO:0016079 NANDO:1200075 http://nanbyodata.jp/ontology/NANDO_1200075 乳児型クラッベ病 Infantile Krabbe disease MONDO:0016089 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型クラッベ病 infantile Krabbe disease https://monarchinitiative.org/MONDO:0016089 NANDO:1200077 http://nanbyodata.jp/ontology/NANDO_1200077 成人型クラッベ病 Adult Krabbe disease MONDO:0016091 http://www.w3.org/2004/02/skos/core#exactMatch 成人型クラッベ病 adult Krabbe disease https://monarchinitiative.org/MONDO:0016091 NANDO:1200161 http://nanbyodata.jp/ontology/NANDO_1200161 シスチン症 Cystinosis MONDO:0016239 http://www.w3.org/2004/02/skos/core#exactMatch シスチン症 cystinosis https://monarchinitiative.org/MONDO:0016239 NANDO:1200150 http://nanbyodata.jp/ontology/NANDO_1200150 セロイドリポフスチノーシス Neuronal ceroid-lipofuscinosis 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 https://monarchinitiative.org/MONDO:0016295 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://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病C型, 成人期神経発症 Niemann-Pick disease type C, adult neurologic onset https://monarchinitiative.org/MONDO:0016310 NANDO:1200098 http://nanbyodata.jp/ontology/NANDO_1200098 ハンター症候群（重症型） Hunter syndrome type A MONDO:0016315 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型, 重症型 mucopolysaccharidosis type 2, severe form https://monarchinitiative.org/MONDO:0016315 NANDO:1200099 http://nanbyodata.jp/ontology/NANDO_1200099 ハンター症候群（軽症型） Hunter syndrome type B MONDO:0016316 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型, 軽症型 mucopolysaccharidosis type 2, attenuated form https://monarchinitiative.org/MONDO:0016316 NANDO:1200205 http://nanbyodata.jp/ontology/NANDO_1200205 進行性多巣性白質脳症 Progressive multifocal leukoencephalopathy MONDO:0016318 http://www.w3.org/2004/02/skos/core#exactMatch 進行性多巣性白質脳症 progressive multifocal leukoencephalopathy https://monarchinitiative.org/MONDO:0016318 NANDO:1200035 http://nanbyodata.jp/ontology/NANDO_1200035 MSA-C Multiple system atrophy, cerebellar type 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 https://monarchinitiative.org/MONDO:0016418 NANDO:1200028 http://nanbyodata.jp/ontology/NANDO_1200028 Baló病 Baló concentric sclerosis MONDO:0016430 http://www.w3.org/2004/02/skos/core#exactMatch バロー同心円性硬化症 Balo concentric sclerosis https://monarchinitiative.org/MONDO:0016430 NANDO:1200183 http://nanbyodata.jp/ontology/NANDO_1200183 もやもや病 Moyamoya disease MONDO:0016820 http://www.w3.org/2004/02/skos/core#exactMatch もやもや病 Moyamoya disease https://monarchinitiative.org/MONDO:0016820 NANDO:1200013 http://nanbyodata.jp/ontology/NANDO_1200013 神経有棘赤血球症 Neuroacanthocytosis MONDO:0016987 http://www.w3.org/2004/02/skos/core#exactMatch 神経有棘赤血球症 neuroacanthocytosis https://monarchinitiative.org/MONDO:0016987 NANDO:1200033 http://nanbyodata.jp/ontology/NANDO_1200033 クロウ・深瀬症候群 Crow-Fukase syndrome MONDO:0017364 http://www.w3.org/2004/02/skos/core#exactMatch クロウ・深瀬症候群 POEMS syndrome https://monarchinitiative.org/MONDO:0017364 NANDO:1200139 http://nanbyodata.jp/ontology/NANDO_1200139 乳児型ポンペ病 Classic infantile Pompe disease MONDO:0017694 http://www.w3.org/2004/02/skos/core#exactMatch 酸性マルターゼ欠損による糖原病, 乳児期発症 glycogen storage disease due to acid maltase deficiency, infantile onset https://monarchinitiative.org/MONDO:0017694 NANDO:1200070 http://nanbyodata.jp/ontology/NANDO_1200070 GM2ガングリオシドーシス GM2 gangliosidosis MONDO:0017720 http://www.w3.org/2004/02/skos/core#exactMatch GM2ガングリオシドーシス GM2 gangliosidosis https://monarchinitiative.org/MONDO:0017720 NANDO:1200079 http://nanbyodata.jp/ontology/NANDO_1200079 後期乳児型異染性白質ジストロフィー Late infantile metachromatic leukodystrophy MONDO:0017729 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 乳幼児型 metachromatic leukodystrophy, late infantile form https://monarchinitiative.org/MONDO:0017729 NANDO:1200081 http://nanbyodata.jp/ontology/NANDO_1200081 成人型異染性白質ジストロフィー Adult metachromatic leukodystrophy MONDO:0017730 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 成人型 metachromatic leukodystrophy, adult form https://monarchinitiative.org/MONDO:0017730 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス型, 乳児型 alpha-mannosidosis, infantile form https://monarchinitiative.org/MONDO:0017732 NANDO:1200128 http://nanbyodata.jp/ontology/NANDO_1200128 若年成人型α - マンノシドーシス Alpha-mannosidosis, adult form MONDO:0017733 http://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス型, 若年成人型 alpha-mannosidosis, adult form https://monarchinitiative.org/MONDO:0017733 NANDO:1200116 http://nanbyodata.jp/ontology/NANDO_1200116 シアリドーシス Sialidosis MONDO:0017734 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス sialidosis https://monarchinitiative.org/MONDO:0017734 NANDO:1200148 http://nanbyodata.jp/ontology/NANDO_1200148 中間型遊離シアル酸蓄積症 Intermediate severe Salla disease MONDO:0017737 http://www.w3.org/2004/02/skos/core#exactMatch 中間型重症サラ病 intermediate severe Salla disease https://monarchinitiative.org/MONDO:0017737 NANDO:1200134 http://nanbyodata.jp/ontology/NANDO_1200134 シンドラー病 Schindler disease MONDO:0017779 http://www.w3.org/2004/02/skos/core#exactMatch アルファ-N-アセチルガラクトサミニダーゼ欠損症 alpha-N-acetylgalactosaminidase deficiency https://monarchinitiative.org/MONDO:0017779 NANDO:1200209 http://nanbyodata.jp/ontology/NANDO_1200209 全身性アミロイドーシス Systemic amyloidosis MONDO:0017816 http://www.w3.org/2004/02/skos/core#exactMatch 原発性全身性アミロイドーシス primary systemic amyloidosis https://monarchinitiative.org/MONDO:0017816 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 野生型ATTRアミロイドーシス wild type ATTR amyloidosis https://monarchinitiative.org/MONDO:0018018 NANDO:1200066 http://nanbyodata.jp/ontology/NANDO_1200066 GM1ガングリオシドーシス GM1 gangliosidosis MONDO:0018149 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス GM1 gangliosidosis https://monarchinitiative.org/MONDO:0018149 NANDO:1200056 http://nanbyodata.jp/ontology/NANDO_1200056 ゴーシェ病 Gaucher disease MONDO:0018150 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病 Gaucher disease https://monarchinitiative.org/MONDO:0018150 NANDO:1200008 http://nanbyodata.jp/ontology/NANDO_1200008 原発性側索硬化症 Primary lateral sclerosis MONDO:0018155 http://www.w3.org/2004/02/skos/core#exactMatch 原発性側索硬化症 lateral sclerosis https://monarchinitiative.org/MONDO:0018155 NANDO:1200165 http://nanbyodata.jp/ontology/NANDO_1200165 副腎白質ジストロフィー Adrenoleukodystrophy MONDO:0018544 http://www.w3.org/2004/02/skos/core#exactMatch 副腎白質ジストロフィー adrenoleukodystrophy https://monarchinitiative.org/MONDO:0018544 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 獲得性クロイツフェルト・ヤコブ病 acquired Creutzfeldt-Jakob disease https://monarchinitiative.org/MONDO:0018686 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 中間型シャルコー・マリー・トゥース病 intermediate Charcot-Marie-Tooth disease https://monarchinitiative.org/MONDO:0018778 NANDO:1200078 http://nanbyodata.jp/ontology/NANDO_1200078 異染性白質ジストロフィー Metachromatic leukodystrophy MONDO:0018868 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー metachromatic leukodystrophy https://monarchinitiative.org/MONDO:0018868 NANDO:1200125 http://nanbyodata.jp/ontology/NANDO_1200125 ムコリピドーシスIII型 Mucolipidosis III MONDO:0018931 http://www.w3.org/2004/02/skos/core#exactMatch ムコリピドーシスIII型, α／β mucolipidosis type III, alpha/beta https://monarchinitiative.org/MONDO:0018931 NANDO:1200100 http://nanbyodata.jp/ontology/NANDO_1200100 サンフィリッポ症候群 Sanfilippo disease MONDO:0018937 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症3型 mucopolysaccharidosis type 3 https://monarchinitiative.org/MONDO:0018937 NANDO:1200105 http://nanbyodata.jp/ontology/NANDO_1200105 モルキオ症候群 Morquio syndrome MONDO:0018938 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4型 mucopolysaccharidosis type 4 https://monarchinitiative.org/MONDO:0018938 NANDO:1200021 http://nanbyodata.jp/ontology/NANDO_1200021 先天性筋無力症候群 Congenital myasthenic syndrome MONDO:0018940 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋無力症候群 congenital myasthenic syndrome https://monarchinitiative.org/MONDO:0018940 NANDO:1200015 http://nanbyodata.jp/ontology/NANDO_1200015 Mcleod症候群 McLeod syndrome MONDO:0018945 http://www.w3.org/2004/02/skos/core#exactMatch XK関連神経変性疾患 XK-related neurodegenerative disease https://monarchinitiative.org/MONDO:0018945 NANDO:1200216 http://nanbyodata.jp/ontology/NANDO_1200216 遠位型ミオパチー Distal myopathy MONDO:0018949 http://www.w3.org/2004/02/skos/core#exactMatch 遠位型ミオパチー distal myopathy https://monarchinitiative.org/MONDO:0018949 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 多巣性運動ニューロパチー multifocal motor neuropathy https://monarchinitiative.org/MONDO:0018979 NANDO:1200063 http://nanbyodata.jp/ontology/NANDO_1200063 ニーマン・ピック病C型 Niemann-Pick disease type C MONDO:0018982 http://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病C型 Niemann-Pick disease type C https://monarchinitiative.org/MONDO:0018982 NANDO:1200018 http://nanbyodata.jp/ontology/NANDO_1200018 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://www.w3.org/2004/02/skos/core#exactMatch シャルコー・マリー・トゥース病2型 Charcot-Marie-Tooth disease type 2 https://monarchinitiative.org/MONDO:0018993 NANDO:1200017 http://nanbyodata.jp/ontology/NANDO_1200017 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://www.w3.org/2004/02/skos/core#exactMatch シャルコー・マリー・トゥース病1型 Charcot-Marie-Tooth disease type 1 https://monarchinitiative.org/MONDO:0019011 NANDO:1200009 http://nanbyodata.jp/ontology/NANDO_1200009 進行性核上性麻痺 Progressive supranuclear palsy MONDO:0019037 http://www.w3.org/2004/02/skos/core#exactMatch 進行性核上性麻痺 progressive supranuclear palsy https://monarchinitiative.org/MONDO:0019037 NANDO:1100014 http://nanbyodata.jp/ontology/NANDO_1100014 染色体または遺伝子に変化を伴う症候群 Chromosome abnormality MONDO:0019040 http://www.w3.org/2004/02/skos/core#exactMatch 染色体異常 chromosomal disorder https://monarchinitiative.org/MONDO:0019040 NANDO:1100001 http://nanbyodata.jp/ontology/NANDO_1100001 神経・筋疾患 Neuromuscular disease MONDO:0019056 http://www.w3.org/2004/02/skos/core#exactMatch 神経筋疾患 neuromuscular disease https://monarchinitiative.org/MONDO:0019056 NANDO:1200052 http://nanbyodata.jp/ontology/NANDO_1200052 痙性対麻痺 Hereditary spastic paraplegia MONDO:0019064 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性痙性対麻痺 hereditary spastic paraplegia https://monarchinitiative.org/MONDO:0019064 NANDO:1200027 http://nanbyodata.jp/ontology/NANDO_1200027 視神経脊髄炎 Neuromyelitis optica spectrum disorders MONDO:0019100 http://www.w3.org/2004/02/skos/core#exactMatch 視神経脊髄炎 neuromyelitis optica https://monarchinitiative.org/MONDO:0019100 NANDO:1200143 http://nanbyodata.jp/ontology/NANDO_1200143 ウォルマン病 Wolman disease MONDO:0019148 http://www.w3.org/2004/02/skos/core#exactMatch 酸性リパーゼ欠損症 Wolman disease https://monarchinitiative.org/MONDO:0019148 NANDO:1200144 http://nanbyodata.jp/ontology/NANDO_1200144 コレステロールエステル蓄積症 Cholesterol ester storage disease MONDO:0019149 http://www.w3.org/2004/02/skos/core#exactMatch コレステロールエステル蓄積症 cholesteryl ester storage disease https://monarchinitiative.org/MONDO:0019149 NANDO:1200155 http://nanbyodata.jp/ontology/NANDO_1200155 成人型神経セロイドリポフスチン症 Adult neuronal ceroid lipofuscinosis MONDO:0019260 http://www.w3.org/2004/02/skos/core#exactMatch 成人型神経セロイドリポフスチン症 adult neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019260 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:0019261 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型神経セロイドリポフスチン症 infantile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019261 NANDO:1200154 http://nanbyodata.jp/ontology/NANDO_1200154 若年型神経セロイドリポフスチン症 Juvenile neuronal ceroid lipofuscinosis MONDO:0019262 http://www.w3.org/2004/02/skos/core#exactMatch 若年型神経セロイドリポフスチン症 juvenile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019262 NANDO:1200137 http://nanbyodata.jp/ontology/NANDO_1200137 シンドラー病III型 Schindler disease type 3 MONDO:0019264 http://www.w3.org/2004/02/skos/core#exactMatch アルファ-N-アセチルガラクトサミニダーゼ欠損症3型 alpha-N-acetylgalactosaminidase deficiency type 3 https://monarchinitiative.org/MONDO:0019264 NANDO:1200117 http://nanbyodata.jp/ontology/NANDO_1200117 シアリドーシスI型 Sialidosis type 1 MONDO:0019346 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス1型 sialidosis type 1 https://monarchinitiative.org/MONDO:0019346 NANDO:1200146 http://nanbyodata.jp/ontology/NANDO_1200146 遊離シアル酸蓄積症 Free sialic acid storage disease MONDO:0019366 http://www.w3.org/2004/02/skos/core#exactMatch 遊離シアル酸蓄積症 free sialic acid storage disease https://monarchinitiative.org/MONDO:0019366 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome https://monarchinitiative.org/MONDO:0009717 NANDO:1200338 http://nanbyodata.jp/ontology/NANDO_1200338 ネザートン症候群 Netherton syndrome MONDO:0009735 http://www.w3.org/2004/02/skos/core#exactMatch ネザートン症候群 Netherton syndrome https://monarchinitiative.org/MONDO:0009735 NANDO:1200356 http://nanbyodata.jp/ontology/NANDO_1200356 シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome MONDO:0009833 http://www.w3.org/2004/02/skos/core#exactMatch シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome https://monarchinitiative.org/MONDO:0009833 NANDO:1200422 http://nanbyodata.jp/ontology/NANDO_1200422 剥離型間質性肺炎 Desquamative interstitial pneumonia MONDO:0009887 http://www.w3.org/2004/02/skos/core#exactMatch 剥離性間質性肺炎 desquamative interstitial pneumonia https://monarchinitiative.org/MONDO:0009887 NANDO:1200369 http://nanbyodata.jp/ontology/NANDO_1200369 常染色体劣性多発性嚢胞腎 Autosomal recessive polycystic kidney disease 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 https://monarchinitiative.org/MONDO:0009889 NANDO:1200427 http://nanbyodata.jp/ontology/NANDO_1200427 肺静脈閉塞症 Pulmonary veno-occlusive disease MONDO:0009937 http://www.w3.org/2004/02/skos/core#exactMatch 肺静脈閉塞症 pulmonary venoocclusive disease https://monarchinitiative.org/MONDO:0009937 NANDO:1200322 http://nanbyodata.jp/ontology/NANDO_1200322 細網異形成症 Reticular dysgenesis MONDO:0009973 http://www.w3.org/2004/02/skos/core#exactMatch 細網異形成症 reticular dysgenesis https://monarchinitiative.org/MONDO:0009973 NANDO:1200327 http://nanbyodata.jp/ontology/NANDO_1200327 ZAP-70欠損症 Zap-70 deficiency MONDO:0010023 http://www.w3.org/2004/02/skos/core#exactMatch ZAP70欠損による複合免疫不全症 combined immunodeficiency due to ZAP70 deficiency https://monarchinitiative.org/MONDO:0010023 NANDO:1200279 http://nanbyodata.jp/ontology/NANDO_1200279 シェーグレン症候群 Sjogren's syndrome MONDO:0010030 http://www.w3.org/2004/02/skos/core#exactMatch シェーグレン症候群 Sjogren syndrome https://monarchinitiative.org/MONDO:0010030 NANDO:1200317 http://nanbyodata.jp/ontology/NANDO_1200317 先天性血栓性血小板減少性紫斑病 Congenital thrombotic thrombocytopenic purpura MONDO:0010122 http://www.w3.org/2004/02/skos/core#exactMatch 先天性血栓性血小板減少性紫斑病 congenital thrombotic thrombocytopenic purpura https://monarchinitiative.org/MONDO:0010122 NANDO:1200404 http://nanbyodata.jp/ontology/NANDO_1200404 NR0B1異常症 NR0B1　abnormality MONDO:0010226 http://www.w3.org/2004/02/skos/core#exactMatch 46,XY性逆転2 46,XY sex reversal 2 https://monarchinitiative.org/MONDO:0010226 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 外胚葉形成不全および免疫不全症 ectodermal dysplasia and immune deficiency https://monarchinitiative.org/MONDO:0010293 NANDO:1200321 http://nanbyodata.jp/ontology/NANDO_1200321 X連鎖重症複合免疫不全症 X-linked severe combined immunodeficiency MONDO:0010315 http://www.w3.org/2004/02/skos/core#exactMatch γ鎖欠損によるT-B+重症複合免疫不全症 T-B+ severe combined immunodeficiency due to gamma chain deficiency https://monarchinitiative.org/MONDO:0010315 NANDO:1200343 http://nanbyodata.jp/ontology/NANDO_1200343 X連鎖無ガンマグロブリン血症 X-linked agammaglobulinemia MONDO:0010421 http://www.w3.org/2004/02/skos/core#exactMatch ブルトン型無ガンマグロブリン血症 Bruton-type agammaglobulinemia https://monarchinitiative.org/MONDO:0010421 NANDO:1200330 http://nanbyodata.jp/ontology/NANDO_1200330 ウィスコット・オルドリッチ症候群 Wiskott-Aldrich syndrome MONDO:0010518 http://www.w3.org/2004/02/skos/core#exactMatch ウィスコット・オルドリッチ症候群 Wiskott-Aldrich syndrome https://monarchinitiative.org/MONDO:0010518 NANDO:1200351 http://nanbyodata.jp/ontology/NANDO_1200351 X連鎖リンパ増殖症候群 X-linked lymphoproliferative syndrome MONDO:0010627 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖リンパ増殖症候群 X-linked lymphoproliferative syndrome https://monarchinitiative.org/MONDO:0010627 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 過剰自己貪食を伴うＸ連鎖性ミオパチー X-linked myopathy with excessive autophagy https://monarchinitiative.org/MONDO:0010684 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch プロラクチン産生性下垂体腺腫 prolactin-producing pituitary gland adenoma https://monarchinitiative.org/MONDO:0010911 NANDO:1200437 http://nanbyodata.jp/ontology/NANDO_1200437 バッド・キアリ症候群 Budd-Chiari syndrome MONDO:0010947 http://www.w3.org/2004/02/skos/core#exactMatch バッド・キアリ症候群 Budd-Chiari syndrome https://monarchinitiative.org/MONDO:0010947 NANDO:1200371 http://nanbyodata.jp/ontology/NANDO_1200371 後縦靱帯骨化症 Ossification of posterior longitudinal ligament MONDO:0011230 http://www.w3.org/2004/02/skos/core#exactMatch 脊椎後縦靱帯骨化症 ossification of the posterior longitudinal ligament of the spine https://monarchinitiative.org/MONDO:0011230 NANDO:1200324 http://nanbyodata.jp/ontology/NANDO_1200324 オーメン症候群 Omenn syndrome MONDO:0011338 http://www.w3.org/2004/02/skos/core#exactMatch オーメン症候群 Omenn syndrome https://monarchinitiative.org/MONDO:0011338 NANDO:1200328 http://nanbyodata.jp/ontology/NANDO_1200328 MHCクラスI欠損症 MHC class I deficiency MONDO:0011476 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスI欠損症 MHC class I deficiency https://monarchinitiative.org/MONDO:0011476 NANDO:1200430 http://nanbyodata.jp/ontology/NANDO_1200430 リンパ脈管筋腫症 Lymphangioleiomyomatosis MONDO:0011705 http://www.w3.org/2004/02/skos/core#exactMatch リンパ脈管筋腫症 lymphangioleiomyomatosis https://monarchinitiative.org/MONDO:0011705 NANDO:1200361 http://nanbyodata.jp/ontology/NANDO_1200361 IRAK4欠損症 IRAK4 deficiency MONDO:0011888 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症67 immunodeficiency 67 https://monarchinitiative.org/MONDO:0011888 NANDO:1200263 http://nanbyodata.jp/ontology/NANDO_1200263 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis MONDO:0012105 http://www.w3.org/2004/02/skos/core#exactMatch 多発血管炎性肉芽腫症 granulomatosis with polyangiitis https://monarchinitiative.org/MONDO:0012105 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 家族性虚血性大腿骨頭壊死 familial avascular necrosis of femoral head https://monarchinitiative.org/MONDO:0012126 NANDO:1200326 http://nanbyodata.jp/ontology/NANDO_1200326 CD8欠損症 CD8 deficiency MONDO:0012161 http://www.w3.org/2004/02/skos/core#exactMatch CD8α鎖変異に関連する呼吸器感染に対する感受性 susceptibility to respiratory infections associated with CD8alpha chain mutation https://monarchinitiative.org/MONDO:0012161 NANDO:1200296 http://nanbyodata.jp/ontology/NANDO_1200296 特発性再生不良性貧血 Idiopathic aplastic anemia MONDO:0012197 http://www.w3.org/2004/02/skos/core#exactMatch 特発性再生不良性貧血 idiopathic aplastic anemia https://monarchinitiative.org/MONDO:0012197 NANDO:1200336 http://nanbyodata.jp/ontology/NANDO_1200336 RIDDLE症候群 RIDDLE syndrome MONDO:0012764 http://www.w3.org/2004/02/skos/core#exactMatch RIDDLE症候群 RIDDLE syndrome https://monarchinitiative.org/MONDO:0012764 NANDO:1200362 http://nanbyodata.jp/ontology/NANDO_1200362 MyD88欠損症 MyD88 deficiency MONDO:0012839 http://www.w3.org/2004/02/skos/core#exactMatch MYD88欠損による化膿性細菌感染症 pyogenic bacterial infections due to MyD88 deficiency https://monarchinitiative.org/MONDO:0012839 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://www.w3.org/2004/02/skos/core#exactMatch 慢性血栓塞栓性肺高血圧症 chronic thromboembolic pulmonary hypertension https://monarchinitiative.org/MONDO:0013024 NANDO:1200405 http://nanbyodata.jp/ontology/NANDO_1200405 NR5A1異常症 NR5A1 abnormality MONDO:0013066 http://www.w3.org/2004/02/skos/core#exactMatch 46,XY性逆転3 46,XY sex reversal 3 https://monarchinitiative.org/MONDO:0013066 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch プリンヌクレオシドホスホリラーゼ欠損症 purine nucleoside phosphorylase deficiency https://monarchinitiative.org/MONDO:0013171 NANDO:1200402 http://nanbyodata.jp/ontology/NANDO_1200402 P450酸化還元酵素欠損症 P450 oxidoreductase deficiency 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 https://monarchinitiative.org/MONDO:0013310 NANDO:1200440 http://nanbyodata.jp/ontology/NANDO_1200440 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0013433 http://www.w3.org/2004/02/skos/core#exactMatch 原発性硬化性胆管炎 primary sclerosing cholangitis https://monarchinitiative.org/MONDO:0013433 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 乾癬14, 膿疱性 psoriasis 14, pustular https://monarchinitiative.org/MONDO:0013626 NANDO:1200406 http://nanbyodata.jp/ontology/NANDO_1200406 IMAge症候群 IMAge syndrome MONDO:0013873 http://www.w3.org/2004/02/skos/core#exactMatch IMAge症候群 IMAGe syndrome https://monarchinitiative.org/MONDO:0013873 NANDO:1200411 http://nanbyodata.jp/ontology/NANDO_1200411 アジソン病 Addison's disease 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 https://monarchinitiative.org/MONDO:0015129 NANDO:1200421 http://nanbyodata.jp/ontology/NANDO_1200421 特発性器質化肺炎 Cryptogenic organizing pneumonia MONDO:0015264 http://www.w3.org/2004/02/skos/core#exactMatch 特発性器質化肺炎 cryptogenic organizing pneumonia https://monarchinitiative.org/MONDO:0015264 NANDO:1200363 http://nanbyodata.jp/ontology/NANDO_1200363 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 http://www.w3.org/2004/02/skos/core#exactMatch 慢性皮膚粘膜カンジダ症 chronic mucocutaneous candidiasis https://monarchinitiative.org/MONDO:0015279 NANDO:1200344 http://nanbyodata.jp/ontology/NANDO_1200344 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 http://www.w3.org/2004/02/skos/core#exactMatch 分類不能型免疫不全症 common variable immunodeficiency https://monarchinitiative.org/MONDO:0015517 NANDO:1200349 http://nanbyodata.jp/ontology/NANDO_1200349 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://www.w3.org/2004/02/skos/core#exactMatch 乳児一過性低ガンマグロブリン血症 transient hypogammaglobulinemia of infancy https://monarchinitiative.org/MONDO:0015698 NANDO:1200304 http://nanbyodata.jp/ontology/NANDO_1200304 先天性角化不全症 Dyskeratosis congenita MONDO:0015780 http://www.w3.org/2004/02/skos/core#exactMatch 先天性角化異常症 dyskeratosis congenita https://monarchinitiative.org/MONDO:0015780 NANDO:1200375 http://nanbyodata.jp/ontology/NANDO_1200375 中枢性尿崩症 Central diabetes insipidus MONDO:0015790 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性尿崩症 central diabetes insipidus https://monarchinitiative.org/MONDO:0015790 NANDO:1200295 http://nanbyodata.jp/ontology/NANDO_1200295 再生不良性貧血 Aplastic anemia MONDO:0015909 http://www.w3.org/2004/02/skos/core#exactMatch 再生不良性貧血 aplastic anemia https://monarchinitiative.org/MONDO:0015909 NANDO:1200425 http://nanbyodata.jp/ontology/NANDO_1200425 肺動脈性肺高血圧症 Pulmonary arterial hypertension MONDO:0015924 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈性肺高血圧症 pulmonary arterial hypertension https://monarchinitiative.org/MONDO:0015924 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 好酸球性多発血管炎性肉芽腫症 eosinophilic granulomatosis with polyangiitis https://monarchinitiative.org/MONDO:0015943 NANDO:1200310 http://nanbyodata.jp/ontology/NANDO_1200310 エヴァンズ症候群 Evans syndrome MONDO:0016030 http://www.w3.org/2004/02/skos/core#exactMatch エヴァンズ症候群 Evans syndrome https://monarchinitiative.org/MONDO:0016030 NANDO:1200457 http://nanbyodata.jp/ontology/NANDO_1200457 好酸球性胃腸炎 Eosinophilic gastroenteritis MONDO:0016129 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性胃腸炎 eosinophilic gastroenteritis https://monarchinitiative.org/MONDO:0016129 NANDO:1200441 http://nanbyodata.jp/ontology/NANDO_1200441 自己免疫性肝炎 Autoimmune hepatitis MONDO:0016264 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性肝炎 autoimmune hepatitis https://monarchinitiative.org/MONDO:0016264 NANDO:1200294 http://nanbyodata.jp/ontology/NANDO_1200294 二次性拘束型心筋症 Secondary restrictive cardiomyopathy MONDO:0016345 http://www.w3.org/2004/02/skos/core#exactMatch 非家族性拘束型心筋症 non-familial restrictive cardiomyopathy https://monarchinitiative.org/MONDO:0016345 NANDO:1200274 http://nanbyodata.jp/ontology/NANDO_1200274 皮膚筋炎 Dermatomyositis MONDO:0016367 http://www.w3.org/2004/02/skos/core#exactMatch 皮膚筋炎 dermatomyositis https://monarchinitiative.org/MONDO:0016367 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://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 https://monarchinitiative.org/MONDO:0016410 NANDO:1200355 http://nanbyodata.jp/ontology/NANDO_1200355 白血球接着不全症 Leukocyte adhesion deficiency MONDO:0017570 http://www.w3.org/2004/02/skos/core#exactMatch 白血球接着不全症 leukocyte adhesion deficiency https://monarchinitiative.org/MONDO:0017570 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 慢性偽性腸閉塞 chronic intestinal pseudoobstruction https://monarchinitiative.org/MONDO:0017574 NANDO:1200235 http://nanbyodata.jp/ontology/NANDO_1200235 単純型表皮水疱症 Epidermolysis bullosa simplex MONDO:0017610 http://www.w3.org/2004/02/skos/core#exactMatch 単純型表皮水疱症 epidermolysis bullosa simplex https://monarchinitiative.org/MONDO:0017610 NANDO:1200236 http://nanbyodata.jp/ontology/NANDO_1200236 接合部型表皮水疱症 Junctional epidermolysis bullosa MONDO:0017612 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症 junctional epidermolysis bullosa https://monarchinitiative.org/MONDO:0017612 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性リンパ増殖症候群 autoimmune lymphoproliferative syndrome https://monarchinitiative.org/MONDO:0017979 NANDO:1200251 http://nanbyodata.jp/ontology/NANDO_1200251 高安動脈炎 Takayasu arteritis MONDO:0017991 http://www.w3.org/2004/02/skos/core#exactMatch 高安動脈炎 Takayasu arteritis https://monarchinitiative.org/MONDO:0017991 NANDO:1200340 http://nanbyodata.jp/ontology/NANDO_1200340 高IgE症候群 Hyper-IgE syndrome MONDO:0018037 http://www.w3.org/2004/02/skos/core#exactMatch 高IgE症候群 hyper-IgE syndrome https://monarchinitiative.org/MONDO:0018037 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome https://monarchinitiative.org/MONDO:0018229 NANDO:1200357 http://nanbyodata.jp/ontology/NANDO_1200357 慢性肉芽腫症 Chronic granulomatous disease MONDO:0018305 http://www.w3.org/2004/02/skos/core#exactMatch 慢性肉芽腫症 chronic granulomatous disease https://monarchinitiative.org/MONDO:0018305 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ホモ接合性家族性高コレステロール血症 homozygous familial hypercholesterolemia https://monarchinitiative.org/MONDO:0018328 NANDO:1200454 http://nanbyodata.jp/ontology/NANDO_1200454 好酸球性消化管疾患 Eosinophilic gastrointestinal disorders MONDO:0018438 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性消化管疾患 eosinophilic gastrointestinal disease https://monarchinitiative.org/MONDO:0018438 NANDO:1200397 http://nanbyodata.jp/ontology/NANDO_1200397 リポイド副腎過形成症 Congenital lipoid adrenal hyperplasia MONDO:0018479 http://www.w3.org/2004/02/skos/core#exactMatch 先天性副腎皮質酵素欠損症 congenital adrenal hyperplasia https://monarchinitiative.org/MONDO:0018479 NANDO:1200353 http://nanbyodata.jp/ontology/NANDO_1200353 重症先天性好中球減少症 Severe congenital neutropenia MONDO:0018542 http://www.w3.org/2004/02/skos/core#exactMatch 重症先天性好中球減少症 severe congenital neutropenia https://monarchinitiative.org/MONDO:0018542 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 肺静脈閉塞症/肺毛細血管腫症 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis https://monarchinitiative.org/MONDO:0018554 NANDO:1200388 http://nanbyodata.jp/ontology/NANDO_1200388 ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 http://www.w3.org/2004/02/skos/core#exactMatch 低ゴナドトロピン性性腺機能低下症 hypogonadotropic hypogonadism https://monarchinitiative.org/MONDO:0018555 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 劇症型原発性抗リン脂質抗体症候群 catastrophic antiphospholipid syndrome https://monarchinitiative.org/MONDO:0018737 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 血栓性血小板減少性紫斑病 thrombotic thrombocytopenic purpura https://monarchinitiative.org/MONDO:0018896 NANDO:1200307 http://nanbyodata.jp/ontology/NANDO_1200307 寒冷凝集素症 Cold agglutinin disease MONDO:0018922 http://www.w3.org/2004/02/skos/core#exactMatch 寒冷凝集素症 cold agglutinin disease https://monarchinitiative.org/MONDO:0018922 NANDO:1200231 http://nanbyodata.jp/ontology/NANDO_1200231 腫瘍随伴性天疱瘡 Paraneoplastic pemphigus MONDO:0018974 http://www.w3.org/2004/02/skos/core#exactMatch 腫瘍随伴性天疱瘡 paraneoplastic pemphigus https://monarchinitiative.org/MONDO:0018974 NANDO:1200226 http://nanbyodata.jp/ontology/NANDO_1200226 神経線維腫症I型 Neurofibromatosis type 1 MONDO:0018975 http://www.w3.org/2004/02/skos/core#exactMatch 神経線維腫症1型 neurofibromatosis type 1 https://monarchinitiative.org/MONDO:0018975 NANDO:1200262 http://nanbyodata.jp/ontology/NANDO_1200262 顕微鏡的多発血管炎 Microscopic polyangiitis MONDO:0019124 http://www.w3.org/2004/02/skos/core#exactMatch 顕微鏡的多発血管炎 microscopic polyangiitis https://monarchinitiative.org/MONDO:0019124 NANDO:1200283 http://nanbyodata.jp/ontology/NANDO_1200283 再発性多発軟骨炎 Relapsing polychondritis MONDO:0019125 http://www.w3.org/2004/02/skos/core#exactMatch 再発性多発軟骨炎 relapsing polychondritis https://monarchinitiative.org/MONDO:0019125 NANDO:1200276 http://nanbyodata.jp/ontology/NANDO_1200276 多発性筋炎 Polymyositis MONDO:0019127 http://www.w3.org/2004/02/skos/core#exactMatch 多発性筋炎 polymyositis https://monarchinitiative.org/MONDO:0019127 NANDO:1200359 http://nanbyodata.jp/ontology/NANDO_1200359 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://www.w3.org/2004/02/skos/core#exactMatch メンデル遺伝型マイコバクテリア易感染症 inherited susceptibility to mycobacterial diseases https://monarchinitiative.org/MONDO:0019146 NANDO:1200381 http://nanbyodata.jp/ontology/NANDO_1200381 中枢性思春期早発症 Central precocious puberty MONDO:0019165 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性思春期早発症 central precocious puberty https://monarchinitiative.org/MONDO:0019165 NANDO:1200261 http://nanbyodata.jp/ontology/NANDO_1200261 結節性多発動脈炎 Polyarteritis nodosa MONDO:0019170 http://www.w3.org/2004/02/skos/core#exactMatch 結節性多発動脈炎 polyarteritis nodosa https://monarchinitiative.org/MONDO:0019170 NANDO:1200431 http://nanbyodata.jp/ontology/NANDO_1200431 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 http://www.w3.org/2004/02/skos/core#exactMatch 網膜色素変性症 retinitis pigmentosa https://monarchinitiative.org/MONDO:0019200 NANDO:1200420 http://nanbyodata.jp/ontology/NANDO_1200420 急性間質性肺炎 Acute interstitial pneumonia MONDO:0019203 http://www.w3.org/2004/02/skos/core#exactMatch 急性間質性肺炎 acute interstitial pneumonia https://monarchinitiative.org/MONDO:0019203 NANDO:1200232 http://nanbyodata.jp/ontology/NANDO_1200232 増殖性天疱瘡 Pemphigus vegetans MONDO:0019322 http://www.w3.org/2004/02/skos/core#exactMatch 増殖性天疱瘡 pemphigus vegetans https://monarchinitiative.org/MONDO:0019322 NANDO:1200233 http://nanbyodata.jp/ontology/NANDO_1200233 紅斑性天疱瘡 Pemphigus erythematosus MONDO:0019323 http://www.w3.org/2004/02/skos/core#exactMatch 紅斑性天疱瘡 pemphigus erythematosus https://monarchinitiative.org/MONDO:0019323 NANDO:1200230 http://nanbyodata.jp/ontology/NANDO_1200230 落葉状天疱瘡 Pemphigus foliaceus MONDO:0019324 http://www.w3.org/2004/02/skos/core#exactMatch 落葉状天疱瘡 pemphigus foliaceus https://monarchinitiative.org/MONDO:0019324 NANDO:1200415 http://nanbyodata.jp/ontology/NANDO_1200415 サルコイドーシス Sarcoidosis MONDO:0019338 http://www.w3.org/2004/02/skos/core#exactMatch サルコイドーシス sarcoidosis https://monarchinitiative.org/MONDO:0019338 NANDO:1200282 http://nanbyodata.jp/ontology/NANDO_1200282 成人発症スチル病 Adult-onset Still disease MONDO:0019355 http://www.w3.org/2004/02/skos/core#exactMatch 成人スチル病 adult-onset Still disease https://monarchinitiative.org/MONDO:0019355 NANDO:1200497 http://nanbyodata.jp/ontology/NANDO_1200497 先天性ミオトニー Myotonia congenita MONDO:0009710 http://www.w3.org/2004/02/skos/core#exactMatch トムゼン・ベッカー病 Thomsen and Becker disease https://monarchinitiative.org/MONDO:0009710 NANDO:1200483 http://nanbyodata.jp/ontology/NANDO_1200483 先天性筋線維タイプ不均等症 Congenital fiber-type disproportion myopathy MONDO:0009711 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋線維不均等症 congenital fiber-type disproportion myopathy https://monarchinitiative.org/MONDO:0009711 NANDO:1200499 http://nanbyodata.jp/ontology/NANDO_1200499 ベッカー病 Becker disease MONDO:0009715 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオトニー, 常染色体潜性 myotonia congenita, autosomal recessive https://monarchinitiative.org/MONDO:0009715 NANDO:1200553 http://nanbyodata.jp/ontology/NANDO_1200553 先天性無痛無汗症 Congenital insensitivity to pain with anhidrosis 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 https://monarchinitiative.org/MONDO:0009746 NANDO:1200599 http://nanbyodata.jp/ontology/NANDO_1200599 PCDH19関連症候群 PCDH19-related syndrome MONDO:0010246 http://www.w3.org/2004/02/skos/core#exactMatch 発達性およびてんかん性脳症9 developmental and epileptic encephalopathy, 9 https://monarchinitiative.org/MONDO:0010246 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ベッカー型筋ジストロフィー Becker muscular dystrophy https://monarchinitiative.org/MONDO:0010311 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch アラン・ハーンドン・タドリー症候群 Allan-Herndon-Dudley syndrome https://monarchinitiative.org/MONDO:0010354 NANDO:1200562 http://nanbyodata.jp/ontology/NANDO_1200562 アイカルディ症候群 Aicardi syndrome MONDO:0010568 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ症候群 Aicardi syndrome https://monarchinitiative.org/MONDO:0010568 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy https://monarchinitiative.org/MONDO:0010679 NANDO: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://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 https://monarchinitiative.org/MONDO:0010714 NANDO:1200603 http://nanbyodata.jp/ontology/NANDO_1200603 レット症候群 Rett syndrome MONDO:0010726 http://www.w3.org/2004/02/skos/core#exactMatch レット症候群 Rett syndrome https://monarchinitiative.org/MONDO:0010726 NANDO:1200514 http://nanbyodata.jp/ontology/NANDO_1200514 DYT3ジストニア Dystonia 3 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 https://monarchinitiative.org/MONDO:0010747 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://www.w3.org/2004/02/skos/core#exactMatch 禿頭と変形性脊椎症を伴う常染色体劣性白質脳症 CARASIL syndrome https://monarchinitiative.org/MONDO:0010829 NANDO:1200550 http://nanbyodata.jp/ontology/NANDO_1200550 意味性認知症 Semantic dementia MONDO:0010857 http://www.w3.org/2004/02/skos/core#exactMatch 意味性認知症 semantic dementia https://monarchinitiative.org/MONDO:0010857 NANDO:1200520 http://nanbyodata.jp/ontology/NANDO_1200520 DYT9ジストニア Dystonia 9 MONDO:0010983 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア9 dystonia 9 https://monarchinitiative.org/MONDO:0010983 NANDO:1200526 http://nanbyodata.jp/ontology/NANDO_1200526 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://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 https://monarchinitiative.org/MONDO:0011038 NANDO:1200579 http://nanbyodata.jp/ontology/NANDO_1200579 18q欠失症候群 18q-syndrome MONDO:0011147 http://www.w3.org/2004/02/skos/core#exactMatch 18q欠失症候群 chromosome 18q deletion syndrome https://monarchinitiative.org/MONDO:0011147 NANDO:1200518 http://nanbyodata.jp/ontology/NANDO_1200518 DYT7ジストニア Dystonia 7 MONDO:0011200 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア7 torsion dystonia 7 https://monarchinitiative.org/MONDO:0011200 NANDO:1200517 http://nanbyodata.jp/ontology/NANDO_1200517 DYT6ジストニア Dystonia 6 MONDO:0011264 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア6 torsion dystonia 6 https://monarchinitiative.org/MONDO:0011264 NANDO:1200469 http://nanbyodata.jp/ontology/NANDO_1200469 若年性特発性関節炎 Juvenile idiopathic arthritis MONDO:0011429 http://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎 juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0011429 NANDO:1200582 http://nanbyodata.jp/ontology/NANDO_1200582 サラ病 Salla disease MONDO:0011449 http://www.w3.org/2004/02/skos/core#exactMatch サラ病 Salla disease https://monarchinitiative.org/MONDO:0011449 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://www.w3.org/2004/02/skos/core#exactMatch 慢性乳児神経皮膚関節症候群 CINCA syndrome https://monarchinitiative.org/MONDO:0011776 NANDO:1200528 http://nanbyodata.jp/ontology/NANDO_1200528 DYT15ジストニア Dystonia 15 MONDO:0011844 http://www.w3.org/2004/02/skos/core#exactMatch ミオクローヌス・ジストニア15 myoclonic dystonia 15 https://monarchinitiative.org/MONDO:0011844 NANDO:1200527 http://nanbyodata.jp/ontology/NANDO_1200527 DYT13ジストニア Dystonia 13 MONDO:0011886 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア13 torsion dystonia 13 https://monarchinitiative.org/MONDO:0011886 NANDO:1200585 http://nanbyodata.jp/ontology/NANDO_1200585 失調、歯牙低形成を伴う髄鞘形成不全症 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:0011897 http://www.w3.org/2004/02/skos/core#exactMatch 白質ジストロフィー,白質低形成7,乏歯症および/または続発性性腺機能低下症を伴うまたは伴わない leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism https://monarchinitiative.org/MONDO:0011897 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://www.w3.org/2004/02/skos/core#exactMatch PCWH症候群 PCWH syndrome https://monarchinitiative.org/MONDO:0012198 NANDO:1200584 http://nanbyodata.jp/ontology/NANDO_1200584 先天性白内障を伴う髄鞘形成不全症 Hypomyelination and congenital cataract MONDO:0012514 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー5 hypomyelinating leukodystrophy 5 https://monarchinitiative.org/MONDO:0012514 NANDO:1200532 http://nanbyodata.jp/ontology/NANDO_1200532 DYT19ジストニア Dystonia 19 MONDO:0012603 http://www.w3.org/2004/02/skos/core#exactMatch 反復発作性運動誘発性ジスキネジア2 episodic kinesigenic dyskinesia 2 https://monarchinitiative.org/MONDO:0012603 NANDO:1200533 http://nanbyodata.jp/ontology/NANDO_1200533 DYT20ジストニア Dystonia 20 MONDO:0012629 http://www.w3.org/2004/02/skos/core#exactMatch 発作性非運動誘発性ジスキネジア2 paroxysmal nonkinesigenic dyskinesia 2 https://monarchinitiative.org/MONDO:0012629 NANDO:1200529 http://nanbyodata.jp/ontology/NANDO_1200529 DYT16ジストニア Dystonia 16 MONDO:0012789 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア16 dystonia 16 https://monarchinitiative.org/MONDO:0012789 NANDO:1200531 http://nanbyodata.jp/ontology/NANDO_1200531 DYT18ジストニア Dystonia 18 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 https://monarchinitiative.org/MONDO:0012805 NANDO:1200581 http://nanbyodata.jp/ontology/NANDO_1200581 HSP60シャペロン病 Mitochondrial Hsp60 chaperonopathy MONDO:0012824 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー4 hypomyelinating leukodystrophy 4 https://monarchinitiative.org/MONDO:0012824 NANDO:1200530 http://nanbyodata.jp/ontology/NANDO_1200530 DYT17ジストニア Dystonia 17 MONDO:0012895 http://www.w3.org/2004/02/skos/core#exactMatch 捻転ジストニア17 torsion dystonia 17 https://monarchinitiative.org/MONDO:0012895 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー6 hypomyelinating leukodystrophy 6 https://monarchinitiative.org/MONDO:0012905 NANDO: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://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 https://monarchinitiative.org/MONDO:0013674 NANDO:1200462 http://nanbyodata.jp/ontology/NANDO_1200462 CFC症候群 CFC Syndrome MONDO:0015280 http://www.w3.org/2004/02/skos/core#exactMatch 心顔面皮膚症候群 cardiofaciocutaneous syndrome https://monarchinitiative.org/MONDO:0015280 NANDO:1200597 http://nanbyodata.jp/ontology/NANDO_1200597 環状20番染色体症候群 Ring chromosome 20 syndrome MONDO:0015436 http://www.w3.org/2004/02/skos/core#exactMatch 環状20番染色体 ring chromosome 20 https://monarchinitiative.org/MONDO:0015436 NANDO:1200600 http://nanbyodata.jp/ontology/NANDO_1200600 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://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 https://monarchinitiative.org/MONDO:0015584 NANDO:1200609 http://nanbyodata.jp/ontology/NANDO_1200609 先天性魚鱗癬 Congenital ichthyosis MONDO:0015947 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性魚鱗癬 inherited ichthyosis https://monarchinitiative.org/MONDO:0015947 NANDO:1200598 http://nanbyodata.jp/ontology/NANDO_1200598 ラスムッセン脳炎 Rasmussen's encephalitis 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 https://monarchinitiative.org/MONDO:0016019 NANDO:1200495 http://nanbyodata.jp/ontology/NANDO_1200495 筋強直性ジストロフィー Myotonic dystrophy MONDO:0016107 http://www.w3.org/2004/02/skos/core#exactMatch 筋強直性ジストロフィー myotonic dystrophy https://monarchinitiative.org/MONDO:0016107 NANDO:1200487 http://nanbyodata.jp/ontology/NANDO_1200487 ジストロフィン異常症 Dystrophinopathies 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 https://monarchinitiative.org/MONDO:0016147 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://www.w3.org/2004/02/skos/core#exactMatch クリオピリン関連周期熱症候群 cryopyrin-associated periodic syndrome https://monarchinitiative.org/MONDO:0016168 NANDO:1200525 http://nanbyodata.jp/ontology/NANDO_1200525 小児交互性片麻痺 Alternating hemiplegia of childhood MONDO:0016241 http://www.w3.org/2004/02/skos/core#exactMatch 小児交互性片麻痺 alternating hemiplegia of childhood https://monarchinitiative.org/MONDO:0016241 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 非典型溶血性尿毒症症候群 atypical hemolytic-uremic syndrome https://monarchinitiative.org/MONDO:0016244 NANDO:1200535 http://nanbyodata.jp/ontology/NANDO_1200535 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://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 https://monarchinitiative.org/MONDO:0016304 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://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 https://monarchinitiative.org/MONDO:0016305 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://www.w3.org/2004/02/skos/core#exactMatch レノックス・ガストー症候群 Lennox-Gastaut syndrome https://monarchinitiative.org/MONDO:0016532 NANDO:1200543 http://nanbyodata.jp/ontology/NANDO_1200543 脳表ヘモジデリン沈着症 Superficial siderosis MONDO:0016594 http://www.w3.org/2004/02/skos/core#exactMatch 脳表ヘモジデリン沈着症 superficial siderosis https://monarchinitiative.org/MONDO:0016594 NANDO:1200516 http://nanbyodata.jp/ontology/NANDO_1200516 DYT5aジストニア Dystonia 5a MONDO:0016812 http://www.w3.org/2004/02/skos/core#exactMatch ドーパ反応性ジストニア dopa-responsive dystonia https://monarchinitiative.org/MONDO:0016812 NANDO:1200492 http://nanbyodata.jp/ontology/NANDO_1200492 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://www.w3.org/2004/02/skos/core#exactMatch エメリー・ドレイフス型筋ジストロフィー Emery-Dreifuss muscular dystrophy https://monarchinitiative.org/MONDO:0016830 NANDO:1200490 http://nanbyodata.jp/ontology/NANDO_1200490 肢帯型筋ジストロフィー Limb-girdle muscular dystrophy MONDO:0016971 http://www.w3.org/2004/02/skos/core#exactMatch 肢帯型筋ジストロフィー limb-girdle muscular dystrophy https://monarchinitiative.org/MONDO:0016971 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ia型 isolated focal cortical dysplasia type Ia https://monarchinitiative.org/MONDO:0017096 NANDO:1200566 http://nanbyodata.jp/ontology/NANDO_1200566 限局性皮質異形成タイプ1b Focal cortical dysplasia type 1b MONDO:0017097 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ib型 isolated focal cortical dysplasia type Ib https://monarchinitiative.org/MONDO:0017097 NANDO:1200567 http://nanbyodata.jp/ontology/NANDO_1200567 限局性皮質異形成タイプ1c Focal cortical dysplasia type 1c MONDO:0017098 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ic型 isolated focal cortical dysplasia type Ic https://monarchinitiative.org/MONDO:0017098 NANDO:1200568 http://nanbyodata.jp/ontology/NANDO_1200568 限局性皮質異形成タイプ2a Focal cortical dysplasia type 2a MONDO:0017101 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成IIa型 isolated focal cortical dysplasia type IIa https://monarchinitiative.org/MONDO:0017101 NANDO:1200569 http://nanbyodata.jp/ontology/NANDO_1200569 限局性皮質異形成タイプ2b Focal cortical dysplasia type 2b MONDO:0017102 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成IIb型 isolated focal cortical dysplasia type IIb https://monarchinitiative.org/MONDO:0017102 NANDO:1200549 http://nanbyodata.jp/ontology/NANDO_1200549 （行動異常型）前頭側頭型認知症 Behavioral variant frontotemporal dementia 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 https://monarchinitiative.org/MONDO:0017160 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://www.w3.org/2004/02/skos/core#exactMatch ペリツェウス・メルツバッハ様病1 Pelizaeus-Merzbacher-like disease https://monarchinitiative.org/MONDO:0017226 NANDO:1200615 http://nanbyodata.jp/ontology/NANDO_1200615 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://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性先天性魚鱗癬 autosomal recessive congenital ichthyosis https://monarchinitiative.org/MONDO:0017265 NANDO:1200610 http://nanbyodata.jp/ontology/NANDO_1200610 ケラチン症性魚鱗癬 Keratinopathic ichthyosis MONDO:0017266 http://www.w3.org/2004/02/skos/core#exactMatch ケラチン症性魚鱗癬 keratinopathic ichthyosis https://monarchinitiative.org/MONDO:0017266 NANDO:1200548 http://nanbyodata.jp/ontology/NANDO_1200548 前頭側頭葉変性症 Frontotemporal lobar degeneration MONDO:0017276 http://www.w3.org/2004/02/skos/core#exactMatch 前頭側頭葉変性症 frontotemporal dementia https://monarchinitiative.org/MONDO:0017276 NANDO:1200595 http://nanbyodata.jp/ontology/NANDO_1200595 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://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 https://monarchinitiative.org/MONDO:0017385 NANDO:1200605 http://nanbyodata.jp/ontology/NANDO_1200605 非典型的レット症候群 Atypical Rett syndrome MONDO:0017746 http://www.w3.org/2004/02/skos/core#exactMatch 非典型的レット症候群 atypical Rett syndrome https://monarchinitiative.org/MONDO:0017746 NANDO:1200617 http://nanbyodata.jp/ontology/NANDO_1200617 葉状魚鱗癬 Lamellar ichthyosis MONDO:0017778 http://www.w3.org/2004/02/skos/core#exactMatch 葉状魚鱗癬 lamellar ichthyosis https://monarchinitiative.org/MONDO:0017778 NANDO:1200506 http://nanbyodata.jp/ontology/NANDO_1200506 脊髄空洞症 Syringomyelia MONDO:0017987 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄空洞症 syringomyelia https://monarchinitiative.org/MONDO:0017987 NANDO:1200541 http://nanbyodata.jp/ontology/NANDO_1200541 FAHN Fatty acid hydroxylase-associated neurodegeneration 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 https://monarchinitiative.org/MONDO:0017999 NANDO:1200592 http://nanbyodata.jp/ontology/NANDO_1200592 ウエスト症候群 West syndrome MONDO:0018097 http://www.w3.org/2004/02/skos/core#exactMatch 点頭てんかん infantile spasms https://monarchinitiative.org/MONDO:0018097 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://www.w3.org/2004/02/skos/core#exactMatch 痙攣重積型（二相性）急性脳症 acute encephalopathy with biphasic seizures and late reduced diffusion https://monarchinitiative.org/MONDO:0018198 NANDO:1200555 http://nanbyodata.jp/ontology/NANDO_1200555 大脳優位型アレキサンダー病 Alexander disease type I 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 https://monarchinitiative.org/MONDO:0018209 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://www.w3.org/2004/02/skos/core#exactMatch アレキサンダー病II型 Alexander disease type II https://monarchinitiative.org/MONDO:0018210 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://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 https://monarchinitiative.org/MONDO:0018655 NANDO:1200466 http://nanbyodata.jp/ontology/NANDO_1200466 家族性寒冷蕁麻疹 Familial cold autoinflammatorysyndrome 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 https://monarchinitiative.org/MONDO:0018768 NANDO:1200574 http://nanbyodata.jp/ontology/NANDO_1200574 神経細胞移動異常症 Neuronal migration defects MONDO:0018838 http://www.w3.org/2004/02/skos/core#exactMatch 滑脳症スペクトラム障害 lissencephaly spectrum disorders https://monarchinitiative.org/MONDO:0018838 NANDO:1200482 http://nanbyodata.jp/ontology/NANDO_1200482 中心核ミオパチー Centronuclear myopathy MONDO:0018947 http://www.w3.org/2004/02/skos/core#exactMatch 中心核ミオパチー centronuclear myopathy https://monarchinitiative.org/MONDO:0018947 NANDO:1200480 http://nanbyodata.jp/ontology/NANDO_1200480 ミニコア病 Minicore myopathy 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 https://monarchinitiative.org/MONDO:0018948 NANDO:1200478 http://nanbyodata.jp/ontology/NANDO_1200478 ネマリンミオパチー Nemaline myopathy MONDO:0018958 http://www.w3.org/2004/02/skos/core#exactMatch ネマリンミオパチー nemaline myopathy https://monarchinitiative.org/MONDO:0018958 NANDO:1200500 http://nanbyodata.jp/ontology/NANDO_1200500 ナトリウムチャネルミオトニー Sodium channel myotonia MONDO:0018959 http://www.w3.org/2004/02/skos/core#exactMatch カリウム惹起性ミオトニー potassium-aggravated myotonia https://monarchinitiative.org/MONDO:0018959 NANDO:1200564 http://nanbyodata.jp/ontology/NANDO_1200564 限局性皮質異形成 Focal cortical dysplasia MONDO:0019009 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成 isolated focal cortical dysplasia https://monarchinitiative.org/MONDO:0019009 NANDO:1200575 http://nanbyodata.jp/ontology/NANDO_1200575 先天性大脳白質形成不全症 Congenital hypomyelinating leukodystrophy MONDO:0019046 http://www.w3.org/2004/02/skos/core#exactMatch 先天性大脳白質形成不全症 leukodystrophy https://monarchinitiative.org/MONDO:0019046 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome https://monarchinitiative.org/MONDO:0019188 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ビッカースタッフ脳幹脳炎 Bickerstaff brainstem encephalitis https://monarchinitiative.org/MONDO:0019208 NANDO:1200616 http://nanbyodata.jp/ontology/NANDO_1200616 先天性魚鱗癬様紅皮症 Congenital ichthyosiform erythroderma MONDO:0019306 http://www.w3.org/2004/02/skos/core#exactMatch 先天性魚鱗癬様紅皮症 congenital non-bullous ichthyosiform erythroderma https://monarchinitiative.org/MONDO:0019306 NANDO:1200510 http://nanbyodata.jp/ontology/NANDO_1200510 アイザックス症候群 Isaacs syndrome MONDO:0019399 http://www.w3.org/2004/02/skos/core#exactMatch アイザックス症候群 Isaac syndrome https://monarchinitiative.org/MONDO:0019399 NANDO:1200471 http://nanbyodata.jp/ontology/NANDO_1200471 関節型若年性特発性関節炎 Articular-type juvenile idiopathic arthritis MONDO:0019433 http://www.w3.org/2004/02/skos/core#exactMatch 関節型若年性特発性関節炎 oligoarticular juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019433 NANDO:1200752 http://nanbyodata.jp/ontology/NANDO_1200752 肥満低換気症候群 Obesity hypoventilation syndrome MONDO:0009763 http://www.w3.org/2004/02/skos/core#exactMatch 肥満-低換気症候群 obesity-hypoventilation syndrome https://monarchinitiative.org/MONDO:0009763 NANDO:1200773 http://nanbyodata.jp/ontology/NANDO_1200773 原発性高シュウ酸尿症I型 Primary hyperoxaluria type 1 MONDO:0009823 http://www.w3.org/2004/02/skos/core#exactMatch 原発性高シュウ酸尿症1型 primary hyperoxaluria type 1 https://monarchinitiative.org/MONDO:0009823 NANDO:1200766 http://nanbyodata.jp/ontology/NANDO_1200766 D-二頭酵素欠損症 D-bifunctional protein deficiency 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 https://monarchinitiative.org/MONDO:0009855 NANDO:1200784 http://nanbyodata.jp/ontology/NANDO_1200784 フェニルケトン尿症 Phenylketonuria MONDO:0009861 http://www.w3.org/2004/02/skos/core#exactMatch フェニルケトン尿症 phenylketonuria https://monarchinitiative.org/MONDO:0009861 NANDO:1200765 http://nanbyodata.jp/ontology/NANDO_1200765 アシル CoA オキシダーゼ欠損症 Peroxisomal acyl-CoA oxidase deficiency MONDO:0009919 http://www.w3.org/2004/02/skos/core#exactMatch アシルCoA オキシダーゼ欠損症 peroxisomal acyl-CoA oxidase deficiency https://monarchinitiative.org/MONDO:0009919 NANDO:1200782 http://nanbyodata.jp/ontology/NANDO_1200782 ビタミンD依存症1型 Vitamin D-dependent rickets, type 1 MONDO:0009924 http://www.w3.org/2004/02/skos/core#exactMatch ビタミンD依存性くる病, 1型 vitamin D-dependent rickets, type 1 https://monarchinitiative.org/MONDO:0009924 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 肺動脈閉鎖症-心室中隔欠損を伴わない pulmonary atresia-intact ventricular septum syndrome https://monarchinitiative.org/MONDO:0009931 NANDO:1200769 http://nanbyodata.jp/ontology/NANDO_1200769 レフサム病 Refsum disease MONDO:0009958 http://www.w3.org/2004/02/skos/core#exactMatch 成人レフサム病 adult Refsum disease https://monarchinitiative.org/MONDO:0009958 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ロスムンド・トムソン症候群 Rothmund-Thomson syndrome https://monarchinitiative.org/MONDO:0010002 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch シェーグレン・ラルソン症候群 Sjogren-Larsson syndrome https://monarchinitiative.org/MONDO:0010031 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ドルフマン・シャナリン症候群 Dorfman-Chanarin disease https://monarchinitiative.org/MONDO:0010155 NANDO:1200789 http://nanbyodata.jp/ontology/NANDO_1200789 高チロシン血症2型 Tyrosinemia type 2 MONDO:0010160 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症II型 tyrosinemia type II https://monarchinitiative.org/MONDO:0010160 NANDO:1200788 http://nanbyodata.jp/ontology/NANDO_1200788 高チロシン血症1型 Tyrosinemia type 1 MONDO:0010161 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症I型 tyrosinemia type I https://monarchinitiative.org/MONDO:0010161 NANDO:1200790 http://nanbyodata.jp/ontology/NANDO_1200790 高チロシン血症3型 Tyrosinemia type 3 MONDO:0010162 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症III型 tyrosinemia type III https://monarchinitiative.org/MONDO:0010162 NANDO:1200797 http://nanbyodata.jp/ontology/NANDO_1200797 コバラミン代謝異常 cblD Methylmalonic acidemia CblD type MONDO:0010185 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸尿症およびホモシスチン尿症cblD型 methylmalonic aciduria and homocystinuria type cblD https://monarchinitiative.org/MONDO:0010185 NANDO:1200659 http://nanbyodata.jp/ontology/NANDO_1200659 ウィーバー症候群 Weaver syndrome MONDO:0010193 http://www.w3.org/2004/02/skos/core#exactMatch ウィーバー症候群 Weaver syndrome https://monarchinitiative.org/MONDO:0010193 NANDO:1200676 http://nanbyodata.jp/ontology/NANDO_1200676 ウェルナー症候群 Werner syndrome MONDO:0010196 http://www.w3.org/2004/02/skos/core#exactMatch ウェルナー症候群 Werner syndrome https://monarchinitiative.org/MONDO:0010196 NANDO:1200655 http://nanbyodata.jp/ontology/NANDO_1200655 ウィルソン病 Wilson disease MONDO:0010200 http://www.w3.org/2004/02/skos/core#exactMatch ウィルソン病 Wilson disease https://monarchinitiative.org/MONDO:0010200 NANDO:1200691 http://nanbyodata.jp/ontology/NANDO_1200691 脆弱 X 随伴振戦/失調症候群 Fragile X tremor/ataxia syndrome MONDO:0010382 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱X関連振戦運動失調症候群 fragile X-associated tremor/ataxia syndrome https://monarchinitiative.org/MONDO:0010382 NANDO:1200692 http://nanbyodata.jp/ontology/NANDO_1200692 脆弱X症候群 Fragile X syndrome MONDO:0010383 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱X症候群 fragile X syndrome https://monarchinitiative.org/MONDO:0010383 NANDO:1200665 http://nanbyodata.jp/ontology/NANDO_1200665 ATR-X症候群 ATR-X syndrome 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 https://monarchinitiative.org/MONDO:0010519 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://www.w3.org/2004/02/skos/core#exactMatch コフィン・ローリー症候群 Coffin-Lowry syndrome https://monarchinitiative.org/MONDO:0010561 NANDO:1200654 http://nanbyodata.jp/ontology/NANDO_1200654 オクシピタル・ホーン症候群 Occipital horn syndrome MONDO:0010572 http://www.w3.org/2004/02/skos/core#exactMatch オクシピタル・ホーン症候群 occipital horn syndrome https://monarchinitiative.org/MONDO:0010572 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch X連鎖潜性魚鱗癬 recessive X-linked ichthyosis https://monarchinitiative.org/MONDO:0010622 NANDO:1200653 http://nanbyodata.jp/ontology/NANDO_1200653 メンケス病 Menkes disease MONDO:0010651 http://www.w3.org/2004/02/skos/core#exactMatch メンケス病 Menkes disease https://monarchinitiative.org/MONDO:0010651 NANDO:1200804 http://nanbyodata.jp/ontology/NANDO_1200804 OTC欠損症 Ornithine transcarbamylase deficiency MONDO:0010703 http://www.w3.org/2004/02/skos/core#exactMatch OTC欠損症 ornithine carbamoyltransferase deficiency https://monarchinitiative.org/MONDO:0010703 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://www.w3.org/2004/02/skos/core#exactMatch 根性点状軟骨異形成症3型 rhizomelic chondrodysplasia punctata type 3 https://monarchinitiative.org/MONDO:0010823 NANDO:1200681 http://nanbyodata.jp/ontology/NANDO_1200681 ヤング・シンプソン症候群 Young-Simpson syndrome 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 https://monarchinitiative.org/MONDO:0011365 NANDO:1200706 http://nanbyodata.jp/ontology/NANDO_1200706 三尖弁閉鎖症 Tricuspid atresia MONDO:0011514 http://www.w3.org/2004/02/skos/core#exactMatch 三尖弁閉鎖症 tricuspid atresia https://monarchinitiative.org/MONDO:0011514 NANDO:1200792 http://nanbyodata.jp/ontology/NANDO_1200792 プロピオン酸血症 Propionic acidemia MONDO:0011628 http://www.w3.org/2004/02/skos/core#exactMatch プロピオン酸血症 propionic acidemia https://monarchinitiative.org/MONDO:0011628 NANDO:1200682 http://nanbyodata.jp/ontology/NANDO_1200682 1ｐ36欠失症候群 1p36 deletion syndrome MONDO:0011929 http://www.w3.org/2004/02/skos/core#exactMatch １ｐ36欠失症候群 chromosome 1p36 deletion syndrome https://monarchinitiative.org/MONDO:0011929 NANDO:1200685 http://nanbyodata.jp/ontology/NANDO_1200685 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://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 https://monarchinitiative.org/MONDO:0011975 NANDO:1200689 http://nanbyodata.jp/ontology/NANDO_1200689 エマヌエル症候群 Emanuel syndrome MONDO:0012176 http://www.w3.org/2004/02/skos/core#exactMatch エマヌエル症候群 Emanuel syndrome https://monarchinitiative.org/MONDO:0012176 NANDO:1200747 http://nanbyodata.jp/ontology/NANDO_1200747 自己免疫性肺胞蛋白症 Autoimmune pulmonary alveolar proteinosis MONDO:0012579 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性肺胞蛋白症 autoimmune pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0012579 NANDO:1200750 http://nanbyodata.jp/ontology/NANDO_1200750 先天性肺胞蛋白症 Congenital alveolar proteinosis MONDO:0012580 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性肺胞蛋白症 hereditary pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0012580 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://www.w3.org/2004/02/skos/core#exactMatch α1-アンチトリプシン欠損症 alpha 1-antitrypsin deficiency https://monarchinitiative.org/MONDO:0013282 NANDO:1200767 http://nanbyodata.jp/ontology/NANDO_1200767 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://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 https://monarchinitiative.org/MONDO:0013391 NANDO:1200774 http://nanbyodata.jp/ontology/NANDO_1200774 アカタラセミア Acatalasemia MONDO:0013571 http://www.w3.org/2004/02/skos/core#exactMatch アカタラセミア acatalasia https://monarchinitiative.org/MONDO:0013571 NANDO:1200768 http://nanbyodata.jp/ontology/NANDO_1200768 ２-メチルアシルCoAラセマーゼ欠損症 Alpha-methylacyl-CoA racemase deficiency MONDO:0013681 http://www.w3.org/2004/02/skos/core#exactMatch α-メチルアシル-CoAラセマーゼ欠損症 alpha-methylacyl-CoA racemase deficiency https://monarchinitiative.org/MONDO:0013681 NANDO:1200726 http://nanbyodata.jp/ontology/NANDO_1200726 一次性膜性増殖性糸球体腎炎I型 Primary membranoproliferative glomerulonephritis type I 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 https://monarchinitiative.org/MONDO:0014005 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://www.w3.org/2004/02/skos/core#exactMatch 晩発性皮膚ポルフィリン症 porphyria cutanea tarda https://monarchinitiative.org/MONDO:0015104 NANDO:1200745 http://nanbyodata.jp/ontology/NANDO_1200745 閉塞性細気管支炎 Bronchiolitis obliterans MONDO:0015265 http://www.w3.org/2004/02/skos/core#exactMatch 閉塞性細気管支炎症候群 bronchiolitis obliterans syndrome https://monarchinitiative.org/MONDO:0015265 NANDO:1200756 http://nanbyodata.jp/ontology/NANDO_1200756 カーニー複合 Carney complex MONDO:0015285 http://www.w3.org/2004/02/skos/core#exactMatch カーニー複合 Carney complex https://monarchinitiative.org/MONDO:0015285 NANDO: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://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 https://monarchinitiative.org/MONDO:0015369 NANDO:1200704 http://nanbyodata.jp/ontology/NANDO_1200704 単心室症 Single ventricle MONDO:0015451 http://www.w3.org/2004/02/skos/core#exactMatch 単心室症 univentricular heart https://monarchinitiative.org/MONDO:0015451 NANDO:1200670 http://nanbyodata.jp/ontology/NANDO_1200670 コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 http://www.w3.org/2004/02/skos/core#exactMatch コフィン・シリス症候群 Coffin-Siris syndrome https://monarchinitiative.org/MONDO:0015452 NANDO:1200677 http://nanbyodata.jp/ontology/NANDO_1200677 コケイン症候群 Cockayne syndrome MONDO:0016006 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群 Cockayne syndrome https://monarchinitiative.org/MONDO:0016006 NANDO:1200699 http://nanbyodata.jp/ontology/NANDO_1200699 完全大血管転位症 Complete transposition of the great arteries 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 https://monarchinitiative.org/MONDO:0016301 NANDO:1200742 http://nanbyodata.jp/ontology/NANDO_1200742 先天性腎性尿崩症 Congenital nephrogenic diabetes insipidus MONDO:0016383 http://www.w3.org/2004/02/skos/core#exactMatch 先天性腎性尿崩症 nephrogenic diabetes insipidus https://monarchinitiative.org/MONDO:0016383 NANDO:1200672 http://nanbyodata.jp/ontology/NANDO_1200672 歌舞伎症候群 Kabuki syndrome MONDO:0016512 http://www.w3.org/2004/02/skos/core#exactMatch 歌舞伎症候群 Kabuki syndrome https://monarchinitiative.org/MONDO:0016512 NANDO:1200786 http://nanbyodata.jp/ontology/NANDO_1200786 ビオプテリン代謝異常症 Tetrahydrobiopterin deficiency 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 https://monarchinitiative.org/MONDO:0016543 NANDO:1200642 http://nanbyodata.jp/ontology/NANDO_1200642 肥厚性皮膚骨膜症 Pachydermoperiostosis MONDO:0016620 http://www.w3.org/2004/02/skos/core#exactMatch 原発性肥大性骨関節症 primary hypertrophic osteoarthropathy https://monarchinitiative.org/MONDO:0016620 NANDO:1200714 http://nanbyodata.jp/ontology/NANDO_1200714 急速進行性糸球体腎炎 Rapidly progressive glomerulonephritis MONDO:0017236 http://www.w3.org/2004/02/skos/core#exactMatch 急速進行性糸球体腎炎 rapidly progressive glomerulonephritis https://monarchinitiative.org/MONDO:0017236 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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 血管型 Ehlers-Danlos syndrome, vascular type https://monarchinitiative.org/MONDO:0017314 NANDO:1200787 http://nanbyodata.jp/ontology/NANDO_1200787 BH4反応性高Phe血症 Tetrahydrobiopterin-responsive hyperphenylalaninemia 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 https://monarchinitiative.org/MONDO:0017389 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://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 https://monarchinitiative.org/MONDO:0017986 NANDO:1200627 http://nanbyodata.jp/ontology/NANDO_1200627 硫黄欠乏性毛髪発育異常症 Trichothiodystrophy MONDO:0018053 http://www.w3.org/2004/02/skos/core#exactMatch 硫黄欠乏性毛髪発育異常症 trichothiodystrophy https://monarchinitiative.org/MONDO:0018053 NANDO:1200693 http://nanbyodata.jp/ontology/NANDO_1200693 総動脈幹遺残症 Truncus arteriosus communis MONDO:0018072 http://www.w3.org/2004/02/skos/core#exactMatch 総動脈幹遺残症 persistent truncus arteriosus https://monarchinitiative.org/MONDO:0018072 NANDO:1200710 http://nanbyodata.jp/ontology/NANDO_1200710 両大血管右室起始症 Double outlet right ventricle MONDO:0018089 http://www.w3.org/2004/02/skos/core#exactMatch 両大血管右室起始症 double outlet right ventricle https://monarchinitiative.org/MONDO:0018089 NANDO:1200757 http://nanbyodata.jp/ontology/NANDO_1200757 ウォルフラム症候群 Wolfram syndrome MONDO:0018105 http://www.w3.org/2004/02/skos/core#exactMatch ウォルフラム症候群 Wolfram syndrome https://monarchinitiative.org/MONDO:0018105 NANDO:1200719 http://nanbyodata.jp/ontology/NANDO_1200719 一次性ネフローゼ症候群 Primary nephrotic syndrome MONDO:0018170 http://www.w3.org/2004/02/skos/core#exactMatch 特発性ネフローゼ症候群 idiopathic nephrotic syndrome https://monarchinitiative.org/MONDO:0018170 NANDO:1200743 http://nanbyodata.jp/ontology/NANDO_1200743 間質性膀胱炎（ハンナ型） Interstitial cystitis (Hunner type) MONDO:0018301 http://www.w3.org/2004/02/skos/core#exactMatch 間質性膀胱炎 interstitial cystitis https://monarchinitiative.org/MONDO:0018301 NANDO:1200640 http://nanbyodata.jp/ontology/NANDO_1200640 グリセリ症候群 Griscelli syndrome MONDO:0018306 http://www.w3.org/2004/02/skos/core#exactMatch グリセリ症候群 Griscelli syndrome https://monarchinitiative.org/MONDO:0018306 NANDO:1200749 http://nanbyodata.jp/ontology/NANDO_1200749 続発性肺胞蛋白症 Secondary Pulmonary Alveolar Proteinosis MONDO:0018483 http://www.w3.org/2004/02/skos/core#exactMatch 続発性肺胞蛋白症 secondary pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0018483 NANDO:1200656 http://nanbyodata.jp/ontology/NANDO_1200656 低ホスファターゼ症 Hypophosphatasia MONDO:0018570 http://www.w3.org/2004/02/skos/core#exactMatch 低ホスファターゼ症 hypophosphatasia https://monarchinitiative.org/MONDO:0018570 NANDO:1200634 http://nanbyodata.jp/ontology/NANDO_1200634 粘膜類天疱瘡 Mucous membrane pemphigoid MONDO:0018746 http://www.w3.org/2004/02/skos/core#exactMatch 粘膜類天疱瘡 mucous membrane pemphigoid https://monarchinitiative.org/MONDO:0018746 NANDO:1200635 http://nanbyodata.jp/ontology/NANDO_1200635 後天性表皮水疱症 Epidermolysis bullosa acquisita MONDO:0018747 http://www.w3.org/2004/02/skos/core#exactMatch 後天性表皮水疱症 acquired epidermolysis bullosa https://monarchinitiative.org/MONDO:0018747 NANDO:1200621 http://nanbyodata.jp/ontology/NANDO_1200621 KID症候群 Keratitis-ichthyosis-deafness syndrome MONDO:0018781 http://www.w3.org/2004/02/skos/core#exactMatch KID症候群 KID syndrome https://monarchinitiative.org/MONDO:0018781 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://www.w3.org/2004/02/skos/core#exactMatch 一次性膜性増殖性糸球体腎炎 primary membranoproliferative glomerulonephritis https://monarchinitiative.org/MONDO:0018904 NANDO:1200637 http://nanbyodata.jp/ontology/NANDO_1200637 眼皮膚白皮症 Oculocutaneous albinism MONDO:0018910 http://www.w3.org/2004/02/skos/core#exactMatch 眼皮膚白皮症 oculocutaneous albinism https://monarchinitiative.org/MONDO:0018910 NANDO:1200688 http://nanbyodata.jp/ontology/NANDO_1200688 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0018923 http://www.w3.org/2004/02/skos/core#exactMatch 22q11.2欠失症候群 22q11.2 deletion syndrome https://monarchinitiative.org/MONDO:0018923 NANDO:1200712 http://nanbyodata.jp/ontology/NANDO_1200712 アルポート症候群 Alport's syndrome MONDO:0018965 http://www.w3.org/2004/02/skos/core#exactMatch アルポート症候群 Alport syndrome https://monarchinitiative.org/MONDO:0018965 NANDO:1200680 http://nanbyodata.jp/ontology/NANDO_1200680 ヌーナン症候群 Noonan syndrome MONDO:0018997 http://www.w3.org/2004/02/skos/core#exactMatch ヌーナン症候群 Noonan syndrome https://monarchinitiative.org/MONDO:0018997 NANDO:1200758 http://nanbyodata.jp/ontology/NANDO_1200758 ペルオキシソーム病 Peroxisomal disorder MONDO:0019053 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム病 peroxisomal disease https://monarchinitiative.org/MONDO:0019053 NANDO:1200633 http://nanbyodata.jp/ontology/NANDO_1200633 水疱性類天疱瘡 Bullous pemphigoid MONDO:0019082 http://www.w3.org/2004/02/skos/core#exactMatch 類天疱瘡 bullous pemphigoid https://monarchinitiative.org/MONDO:0019082 NANDO:1200744 http://nanbyodata.jp/ontology/NANDO_1200744 オスラー病 Osler disease MONDO:0019180 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性出血性毛細血管拡張症 hereditary hemorrhagic telangiectasia https://monarchinitiative.org/MONDO:0019180 NANDO:1200764 http://nanbyodata.jp/ontology/NANDO_1200764 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://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソームβ酸化系酵素欠損症 disorder of peroxisomal beta oxidation https://monarchinitiative.org/MONDO:0019233 NANDO:1200759 http://nanbyodata.jp/ontology/NANDO_1200759 ペルオキシソーム形成異常症 Peroxisome biogenesis disorders 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 https://monarchinitiative.org/MONDO:0019234 NANDO:1200618 http://nanbyodata.jp/ontology/NANDO_1200618 魚鱗癬症候群 Ichthyosis syndrome MONDO:0019269 http://www.w3.org/2004/02/skos/core#exactMatch 魚鱗癬症候群 ichthyosis https://monarchinitiative.org/MONDO:0019269 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://www.w3.org/2004/02/skos/core#exactMatch ヘルマンスキー・パドラック症候群 Hermansky-Pudlak syndrome https://monarchinitiative.org/MONDO:0019312 NANDO:1200679 http://nanbyodata.jp/ontology/NANDO_1200679 ソトス症候群 Sotos syndrome MONDO:0019349 http://www.w3.org/2004/02/skos/core#exactMatch ソトス症候群 Sotos syndrome https://monarchinitiative.org/MONDO:0019349 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch カルニチンパルミトイルトランスフェラーゼ1A欠損症 carnitine palmitoyl transferase 1A deficiency https://monarchinitiative.org/MONDO:0009705 NANDO:1200867 http://nanbyodata.jp/ontology/NANDO_1200867 中條・西村症候群 Nakajo-Nishimura syndrome MONDO:0009726 http://www.w3.org/2004/02/skos/core#exactMatch プロテアソーム関連自己炎症症候群 proteosome-associated autoinflammatory syndrome https://monarchinitiative.org/MONDO:0009726 NANDO:1200909 http://nanbyodata.jp/ontology/NANDO_1200909 総排泄腔外反症 Cloacal exstrophy MONDO:0009774 http://www.w3.org/2004/02/skos/core#exactMatch 総排泄腔外反症 cloacal exstrophy https://monarchinitiative.org/MONDO:0009774 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 3-メチルグルタコン酸尿症3型 3-methylglutaconic aciduria type 3 https://monarchinitiative.org/MONDO:0009787 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 慢性再発性多発性骨髄炎 chronic recurrent multifocal osteomyelitis https://monarchinitiative.org/MONDO:0009813 NANDO:1200832 http://nanbyodata.jp/ontology/NANDO_1200832 筋型糖原病X型 Glycogen storage diseases type X MONDO:0009865 http://www.w3.org/2004/02/skos/core#exactMatch ホスホグリセリン酸ムターゼ欠損による糖原病 glycogen storage disease due to phosphoglycerate mutase deficiency https://monarchinitiative.org/MONDO:0009865 NANDO:1200848 http://nanbyodata.jp/ontology/NANDO_1200848 肝型糖原病IXb型 Hepatic glycogen storage disease type IXb MONDO:0009868 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXb glycogen storage disease IXb https://monarchinitiative.org/MONDO:0009868 NANDO:1200817 http://nanbyodata.jp/ontology/NANDO_1200817 先天性骨髄性ポルフィリン症 Congenital erythropoietic porphyria MONDO:0009902 http://www.w3.org/2004/02/skos/core#exactMatch 皮膚ポルフィリン症 cutaneous porphyria https://monarchinitiative.org/MONDO:0009902 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch スミス・レムリ・オピッツ症候群 Smith-Lemli-Opitz syndrome https://monarchinitiative.org/MONDO:0010035 NANDO:1200948 http://nanbyodata.jp/ontology/NANDO_1200948 カナバン病 Canavan disease MONDO:0010079 http://www.w3.org/2004/02/skos/core#exactMatch カドミウム中毒 Canavan disease https://monarchinitiative.org/MONDO:0010079 NANDO:1200942 http://nanbyodata.jp/ontology/NANDO_1200942 アッシャー症候群1型 Usher syndrome type I MONDO:0010168 http://www.w3.org/2004/02/skos/core#exactMatch アッシャー症候群1型 Usher syndrome type 1 https://monarchinitiative.org/MONDO:0010168 NANDO:1201040 http://nanbyodata.jp/ontology/NANDO_1201040 ホモシスチン尿症II型 Homocystinuria type 2 MONDO:0010184 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸尿症およびホモシスチン尿症cblC型 methylmalonic aciduria and homocystinuria type cblC https://monarchinitiative.org/MONDO:0010184 NANDO:1201035 http://nanbyodata.jp/ontology/NANDO_1201035 クレアチントランスポーター欠損症 Creatine transporter deficiency MONDO:0010305 http://www.w3.org/2004/02/skos/core#exactMatch クレアチントランスポーター欠損症 creatine transporter deficiency https://monarchinitiative.org/MONDO:0010305 NANDO:1200830 http://nanbyodata.jp/ontology/NANDO_1200830 筋型糖原病IXd型 Glycogen storage diseases type IXd MONDO:0010362 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXd glycogen storage disease IXd https://monarchinitiative.org/MONDO:0010362 NANDO:1200831 http://nanbyodata.jp/ontology/NANDO_1200831 ホスホグリセリン酸キナーゼ欠損症 Phosphoglycerate kinase deficiency MONDO:0010392 http://www.w3.org/2004/02/skos/core#exactMatch ホスホグリセリン酸キナーゼ欠損による糖原病 glycogen storage disease due to phosphoglycerate kinase 1 deficiency https://monarchinitiative.org/MONDO:0010392 NANDO:1200818 http://nanbyodata.jp/ontology/NANDO_1200818 X連鎖優性プロトポルフィリン症 X-linked dominant protoporphyria MONDO:0010420 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖骨髄性プロトポルフィリン症 X-linked erythropoietic protoporphyria https://monarchinitiative.org/MONDO:0010420 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch バース症候群 Barth syndrome https://monarchinitiative.org/MONDO:0010543 NANDO:1200847 http://nanbyodata.jp/ontology/NANDO_1200847 肝型糖原病IXa型 Hepatic glycogen storage disease type IXa MONDO:0010598 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXa1 glycogen storage disease IXa1 https://monarchinitiative.org/MONDO:0010598 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch X連鎖性網膜分離症 X-linked retinoschisis https://monarchinitiative.org/MONDO:0010725 NANDO:1200940 http://nanbyodata.jp/ontology/NANDO_1200940 レーベル遺伝性視神経症 Leber hereditary optic neuropathy 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 https://monarchinitiative.org/MONDO:0010788 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://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞2型 progressive familial intrahepatic cholestasis type 2 https://monarchinitiative.org/MONDO:0011156 NANDO:1201045 http://nanbyodata.jp/ontology/NANDO_1201045 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://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞3型 progressive familial intrahepatic cholestasis type 3 https://monarchinitiative.org/MONDO:0011214 NANDO:1201003 http://nanbyodata.jp/ontology/NANDO_1201003 先天性気管狭窄症 Congenital tracheal stenosis MONDO:0011340 http://www.w3.org/2004/02/skos/core#exactMatch 先天性気管狭窄症 congenital tracheal stenosis https://monarchinitiative.org/MONDO:0011340 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 皮質下嚢胞を伴う巨脳性白質脳症 megalencephalic leukoencephalopathy with subcortical cysts https://monarchinitiative.org/MONDO:0011391 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 化膿性関節炎-壊疽性膿皮症-ざ瘡症候群 pyogenic arthritis-pyoderma gangrenosum-acne syndrome https://monarchinitiative.org/MONDO:0011462 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch シトリン欠損による新生児肝内胆汁うっ滞 neonatal intrahepatic cholestasis due to citrin deficiency https://monarchinitiative.org/MONDO:0011601 NANDO:1200984 http://nanbyodata.jp/ontology/NANDO_1200984 非ケトーシス型高グリシン血症 Nonketotic hyperglycinemia MONDO:0011612 http://www.w3.org/2004/02/skos/core#exactMatch グリシン脳症 glycine encephalopathy https://monarchinitiative.org/MONDO:0011612 NANDO:1200988 http://nanbyodata.jp/ontology/NANDO_1200988 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://www.w3.org/2004/02/skos/core#exactMatch 芳香族L-アミノ酸脱炭酸酵素欠損症 aromatic L-amino acid decarboxylase deficiency https://monarchinitiative.org/MONDO:0012084 NANDO:1200862 http://nanbyodata.jp/ontology/NANDO_1200862 後天性部分性脂肪萎縮症 Acquired partial lipodystrophy 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 https://monarchinitiative.org/MONDO:0012104 NANDO:1200974 http://nanbyodata.jp/ontology/NANDO_1200974 三頭酵素欠損症 Trifunctional protein deficiency 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 https://monarchinitiative.org/MONDO:0012172 NANDO:1200959 http://nanbyodata.jp/ontology/NANDO_1200959 9q34欠失症候群 9q34 deletion syndrome MONDO:0012455 http://www.w3.org/2004/02/skos/core#exactMatch Kleefstra症候群 Kleefstra syndrome https://monarchinitiative.org/MONDO:0012455 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://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 https://monarchinitiative.org/MONDO:0012465 NANDO:1200834 http://nanbyodata.jp/ontology/NANDO_1200834 筋型糖原病XII型 Glycogen storage diseases type XII MONDO:0012747 http://www.w3.org/2004/02/skos/core#exactMatch アルドラーゼA欠損による糖原病 glycogen storage disease due to aldolase A deficiency https://monarchinitiative.org/MONDO:0012747 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch セピアプテリン還元酵素欠損によるドーパ反応性ジストニア dopa-responsive dystonia due to sepiapterin reductase deficiency https://monarchinitiative.org/MONDO:0012994 NANDO:1201033 http://nanbyodata.jp/ontology/NANDO_1201033 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://www.w3.org/2004/02/skos/core#exactMatch AGAT欠損症 AGAT deficiency https://monarchinitiative.org/MONDO:0012996 NANDO:1201034 http://nanbyodata.jp/ontology/NANDO_1201034 グアニジノ酢酸メチル基転位酵素欠損症 Guanidinoacetate methyltransferase deficiency 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 https://monarchinitiative.org/MONDO:0012999 NANDO:1200835 http://nanbyodata.jp/ontology/NANDO_1200835 筋型糖原病XIII型 Glycogen storage diseases type XIII MONDO:0013046 http://www.w3.org/2004/02/skos/core#exactMatch 筋βエノラーゼ欠損による糖原病 glycogen storage disease due to muscle beta-enolase deficiency https://monarchinitiative.org/MONDO:0013046 NANDO:1200833 http://nanbyodata.jp/ontology/NANDO_1200833 筋型糖原病XI型 Glycogen storage diseases type XI MONDO:0013047 http://www.w3.org/2004/02/skos/core#exactMatch 乳酸脱水素酵素Mサブユニット欠損による糖原病 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency https://monarchinitiative.org/MONDO:0013047 NANDO:1200849 http://nanbyodata.jp/ontology/NANDO_1200849 肝型糖原病IXc型 Hepatic glycogen storage disease type IXc MONDO:0013091 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXc glycogen storage disease IXc https://monarchinitiative.org/MONDO:0013091 NANDO:1200837 http://nanbyodata.jp/ontology/NANDO_1200837 筋型糖原病XV型 Glycogen storage diseases type XV MONDO:0013291 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病XV glycogen storage disease XV https://monarchinitiative.org/MONDO:0013291 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch オカルト黄斑ジストロフィー occult macular dystrophy https://monarchinitiative.org/MONDO:0013316 NANDO:1200836 http://nanbyodata.jp/ontology/NANDO_1200836 筋型糖原病XIV型 Glycogen storage diseases type XIV MONDO:0013968 http://www.w3.org/2004/02/skos/core#exactMatch PGM1-先天性グリコシル化異常症 PGM1-congenital disorder of glycosylation https://monarchinitiative.org/MONDO:0013968 NANDO:1201037 http://nanbyodata.jp/ontology/NANDO_1201037 家族性低βリポタンパク血症1（ホモ接合体） Homozygous familial hypobetalipoproteinemia 1 MONDO:0014252 http://www.w3.org/2004/02/skos/core#exactMatch 家族性低ベータリポ蛋白血症1 familial hypobetalipoproteinemia 1 https://monarchinitiative.org/MONDO:0014252 NANDO:1200995 http://nanbyodata.jp/ontology/NANDO_1200995 ADA2欠損症 Adenosine deaminase 2 deficiency 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 https://monarchinitiative.org/MONDO:0014306 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://www.w3.org/2004/02/skos/core#exactMatch 胆汁うっ滞, 進行性家族性肝内, 4 cholestasis, progressive familial intrahepatic, 4 https://monarchinitiative.org/MONDO:0014381 NANDO:1200952 http://nanbyodata.jp/ontology/NANDO_1200952 卵巣機能障害を伴う進行性白質脳症 Leukoencephalopathy, progressive, with ovarian failure MONDO:0014387 http://www.w3.org/2004/02/skos/core#exactMatch 白質脳症, 進行性, 卵巣機能不全を伴う leukoencephalopathy, progressive, with ovarian failure https://monarchinitiative.org/MONDO:0014387 NANDO:1200994 http://nanbyodata.jp/ontology/NANDO_1200994 NLRC4異常症 NLRC4 mutation 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 https://monarchinitiative.org/MONDO:0014472 NANDO:1200925 http://nanbyodata.jp/ontology/NANDO_1200925 自己免疫性膵炎 Autoimmune pancreatitis MONDO:0015175 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性膵炎 autoimmune pancreatitis https://monarchinitiative.org/MONDO:0015175 NANDO:1200890 http://nanbyodata.jp/ontology/NANDO_1200890 ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia MONDO:0015253 http://www.w3.org/2004/02/skos/core#exactMatch ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia https://monarchinitiative.org/MONDO:0015253 NANDO:1201004 http://nanbyodata.jp/ontology/NANDO_1201004 先天性声門下狭窄症 Congenital subglottic stenosis MONDO:0015395 http://www.w3.org/2004/02/skos/core#exactMatch 先天性声門下狭窄症 congenital subglottic stenosis https://monarchinitiative.org/MONDO:0015395 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 複合カルボキシラーゼ欠損症 multiple carboxylase deficiency https://monarchinitiative.org/MONDO:0015454 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch カルニチンパルミトイルトランスフェラーゼII欠損症 carnitine palmitoyltransferase II deficiency https://monarchinitiative.org/MONDO:0015515 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞 progressive familial intrahepatic cholestasis https://monarchinitiative.org/MONDO:0015762 NANDO:1200937 http://nanbyodata.jp/ontology/NANDO_1200937 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 http://www.w3.org/2004/02/skos/core#exactMatch 錐体-杆体ジストロフィー cone-rod dystrophy https://monarchinitiative.org/MONDO:0015993 NANDO:1200960 http://nanbyodata.jp/ontology/NANDO_1200960 コルネリア・デランゲ症候群 Cornelia de lange syndrome MONDO:0016033 http://www.w3.org/2004/02/skos/core#exactMatch コルネリアデランゲ症候群 Cornelia de Lange syndrome https://monarchinitiative.org/MONDO:0016033 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch びまん皮膚硬化型全身性強皮症 diffuse cutaneous systemic sclerosis https://monarchinitiative.org/MONDO:0016356 NANDO:1201011 http://nanbyodata.jp/ontology/NANDO_1201011 限局皮膚硬化型全身性強皮症 Limited cutaneous systemic sclerosis MONDO:0016358 http://www.w3.org/2004/02/skos/core#exactMatch 限局皮膚硬化型全身性強皮症 limited cutaneous systemic sclerosis https://monarchinitiative.org/MONDO:0016358 NANDO:1200944 http://nanbyodata.jp/ontology/NANDO_1200944 アッシャー症候群3型 Usher syndrome Type III MONDO:0016485 http://www.w3.org/2004/02/skos/core#exactMatch アッシャー症候群1型 Usher syndrome type 3 https://monarchinitiative.org/MONDO:0016485 NANDO:1200978 http://nanbyodata.jp/ontology/NANDO_1200978 シトリン欠損症 Citrin deficiency MONDO:0016602 http://www.w3.org/2004/02/skos/core#exactMatch シトリン欠損症 citrin deficiency https://monarchinitiative.org/MONDO:0016602 NANDO:1200980 http://nanbyodata.jp/ontology/NANDO_1200980 成人発症II型シトルリン血症 Adult-onset type II citrullinemia MONDO:0016603 http://www.w3.org/2004/02/skos/core#exactMatch シトルリン血症II型 citrullinemia type II https://monarchinitiative.org/MONDO:0016603 NANDO:1200958 http://nanbyodata.jp/ontology/NANDO_1200958 1q部分重複症候群 Partial trisomy 1q 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 https://monarchinitiative.org/MONDO:0016952 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://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症 thanatophoric dysplasia https://monarchinitiative.org/MONDO:0017042 NANDO:1200998 http://nanbyodata.jp/ontology/NANDO_1200998 大理石骨病 Osteopetrosis MONDO:0017198 http://www.w3.org/2004/02/skos/core#exactMatch 大理石骨病 osteopetrosis https://monarchinitiative.org/MONDO:0017198 NANDO:1200923 http://nanbyodata.jp/ontology/NANDO_1200923 IgG4関連疾患 IgG4-related disease MONDO:0017287 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連硬化性疾患 immunoglobulin G4-related sclerosing disease https://monarchinitiative.org/MONDO:0017287 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://www.w3.org/2004/02/skos/core#exactMatch 新生児グリシン脳症 neonatal glycine encephalopathy https://monarchinitiative.org/MONDO:0017353 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://www.w3.org/2004/02/skos/core#exactMatch 乳児グリシン脳症 infantile glycine encephalopathy https://monarchinitiative.org/MONDO:0017354 NANDO:1200989 http://nanbyodata.jp/ontology/NANDO_1200989 メチルグルタコン酸尿症 Methylglutaconic aciduria MONDO:0017359 http://www.w3.org/2004/02/skos/core#exactMatch 3-メチルグルタコン酸尿症 3-methylglutaconic aciduria https://monarchinitiative.org/MONDO:0017359 NANDO:1200969 http://nanbyodata.jp/ontology/NANDO_1200969 カルニチン回路異常症 Carnitine cycle disorders 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 https://monarchinitiative.org/MONDO:0017716 NANDO:1200964 http://nanbyodata.jp/ontology/NANDO_1200964 先天性肺静脈狭窄症 Congenital pulmonary vein stenosis 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 https://monarchinitiative.org/MONDO:0017864 NANDO:1200863 http://nanbyodata.jp/ontology/NANDO_1200863 家族性地中海熱 Familial Mediterranean fever MONDO:0018088 http://www.w3.org/2004/02/skos/core#exactMatch 家族性地中海熱 familial Mediterranean fever https://monarchinitiative.org/MONDO:0018088 NANDO:1200903 http://nanbyodata.jp/ontology/NANDO_1200903 ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 http://www.w3.org/2004/02/skos/core#exactMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO:1200928 http://nanbyodata.jp/ontology/NANDO_1200928 IgG4関連硬化性胆管炎 IgG4-related sclerosing cholangitis MONDO:0018645 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連硬化性胆管炎 IgG4-related sclerosing cholangitis https://monarchinitiative.org/MONDO:0018645 NANDO:1200930 http://nanbyodata.jp/ontology/NANDO_1200930 IgG4関連腎臓病 IgG4-related kidney disease MONDO:0018671 http://www.w3.org/2004/02/skos/core#exactMatch IgG4関連腎臓病 IgG4-related kidney disease https://monarchinitiative.org/MONDO:0018671 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群 Aicardi-Goutieres syndrome https://monarchinitiative.org/MONDO:0018866 NANDO:1200859 http://nanbyodata.jp/ontology/NANDO_1200859 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 http://www.w3.org/2004/02/skos/core#exactMatch 先天性全身性脂肪萎縮症 Berardinelli-Seip congenital lipodystrophy https://monarchinitiative.org/MONDO:0018883 NANDO:1200852 http://nanbyodata.jp/ontology/NANDO_1200852 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://www.w3.org/2004/02/skos/core#exactMatch レシチンコレステロールアシルトランスフェラーゼ欠損症 LCAT deficiency https://monarchinitiative.org/MONDO:0018999 NANDO:1201036 http://nanbyodata.jp/ontology/NANDO_1201036 ネフロン癆 Nephronophthisis MONDO:0019005 http://www.w3.org/2004/02/skos/core#exactMatch ネフロン癆 nephronophthisis https://monarchinitiative.org/MONDO:0019005 NANDO:1200873 http://nanbyodata.jp/ontology/NANDO_1200873 骨形成不全症 Osteogenesis imperfecta MONDO:0019019 http://www.w3.org/2004/02/skos/core#exactMatch 骨形成不全症 osteogenesis imperfecta https://monarchinitiative.org/MONDO:0019019 NANDO:1200898 http://nanbyodata.jp/ontology/NANDO_1200898 自己免疫性後天性凝固第 VIII/8 因子欠乏症 Acquired hemophilia A MONDO:0019139 http://www.w3.org/2004/02/skos/core#exactMatch 後天性血友病 acquired hemophilia https://monarchinitiative.org/MONDO:0019139 NANDO:1201001 http://nanbyodata.jp/ontology/NANDO_1201001 無虹彩症 Aniridia MONDO:0019172 http://www.w3.org/2004/02/skos/core#exactMatch 虹彩欠損症 aniridia https://monarchinitiative.org/MONDO:0019172 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://www.w3.org/2004/02/skos/core#exactMatch IgG4関連涙腺・眼窩および唾液腺病変 IgG4-related dacryoadenitis and sialadenitis https://monarchinitiative.org/MONDO:0019191 NANDO:1200860 http://nanbyodata.jp/ontology/NANDO_1200860 後天性全身性脂肪萎縮症 Acquired generalized lipodystrophy MONDO:0019193 http://www.w3.org/2004/02/skos/core#exactMatch 先天性全身性リポジストロフィー acquired generalized lipodystrophy https://monarchinitiative.org/MONDO:0019193 NANDO:1200933 http://nanbyodata.jp/ontology/NANDO_1200933 Stargardt病 Stargardt disease MONDO:0019353 http://www.w3.org/2004/02/skos/core#exactMatch Stargardt病 Stargardt disease https://monarchinitiative.org/MONDO:0019353 NANDO:1200891 http://nanbyodata.jp/ontology/NANDO_1200891 ファンコニ貧血 Fanconi anemia MONDO:0019391 http://www.w3.org/2004/02/skos/core#exactMatch ファンコーニ貧血 Fanconi anemia https://monarchinitiative.org/MONDO:0019391 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://www.w3.org/2004/02/skos/core#exactMatch 先天性赤血球形成異常性貧血 congenital dyserythropoietic anemia https://monarchinitiative.org/MONDO:0019403 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 先天性ネフローゼ症候群, フィンランド型 congenital nephrotic syndrome, Finnish type https://monarchinitiative.org/MONDO:0009732 NANDO:2200048 http://nanbyodata.jp/ontology/NANDO_2200048 骨肉腫 Osteosarcoma MONDO:0009807 http://www.w3.org/2004/02/skos/core#exactMatch 骨肉腫 osteosarcoma https://monarchinitiative.org/MONDO:0009807 NANDO:2200093 http://nanbyodata.jp/ontology/NANDO_2200093 脈絡叢乳頭腫 Choroid plexus papilloma MONDO:0009837 http://www.w3.org/2004/02/skos/core#exactMatch 脈絡叢乳頭腫 choroid plexus papilloma https://monarchinitiative.org/MONDO:0009837 NANDO: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://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 https://monarchinitiative.org/MONDO:0009889 NANDO:2200145 http://nanbyodata.jp/ontology/NANDO_2200145 ギッテルマン症候群 Gitelman syndrome MONDO:0009904 http://www.w3.org/2004/02/skos/core#exactMatch ギテルマン症候群 Gitelman syndrome https://monarchinitiative.org/MONDO:0009904 NANDO:2200202 http://nanbyodata.jp/ontology/NANDO_2200202 肺胞微石症 Pulmonary alveolar microlithiasis MONDO:0009928 http://www.w3.org/2004/02/skos/core#exactMatch 肺胞微石症 pulmonary alveolar microlithiasis https://monarchinitiative.org/MONDO:0009928 NANDO:1201058 http://nanbyodata.jp/ontology/NANDO_1201058 ラパデリノ症候群 RAPADILINO syndrome MONDO:0009955 http://www.w3.org/2004/02/skos/core#exactMatch ラパデリノ症候群 rapadilino syndrome https://monarchinitiative.org/MONDO:0009955 NANDO:1201073 http://nanbyodata.jp/ontology/NANDO_1201073 裂脳症 Schizencephaly MONDO:0010011 http://www.w3.org/2004/02/skos/core#exactMatch 裂脳症 schizencephaly https://monarchinitiative.org/MONDO:0010011 NANDO:2200061 http://nanbyodata.jp/ontology/NANDO_2200061 滑膜肉腫 Synovial sarcoma MONDO:0010434 http://www.w3.org/2004/02/skos/core#exactMatch 滑膜肉腫 synovial sarcoma https://monarchinitiative.org/MONDO:0010434 NANDO:2200188 http://nanbyodata.jp/ontology/NANDO_2200188 ロウ症候群 Lowe syndrome MONDO:0010645 http://www.w3.org/2004/02/skos/core#exactMatch 眼腎脳症候群 oculocerebrorenal syndrome https://monarchinitiative.org/MONDO:0010645 NANDO:1201064 http://nanbyodata.jp/ontology/NANDO_1201064 カーンズ・セイヤー症候群 Kearns-Sayre syndrome MONDO:0010787 http://www.w3.org/2004/02/skos/core#exactMatch カーンズ・セイヤー症候群 Kearns-Sayre syndrome https://monarchinitiative.org/MONDO:0010787 NANDO:1201093 http://nanbyodata.jp/ontology/NANDO_1201093 ビタミンD依存症 1B型 Vitamin D-dependent rickets, type 1B MONDO:0010810 http://www.w3.org/2004/02/skos/core#exactMatch ビタミンD依存性くる病, 1B型 vitamin D hydroxylation-deficient rickets, type 1B https://monarchinitiative.org/MONDO:0010810 NANDO:2200197 http://nanbyodata.jp/ontology/NANDO_2200197 気管支喘息 Bronchial asthma MONDO:0010940 http://www.w3.org/2004/02/skos/core#exactMatch 気管支喘息に対する遺伝的感受性 inherited susceptibility to asthma https://monarchinitiative.org/MONDO:0010940 NANDO:2200080 http://nanbyodata.jp/ontology/NANDO_2200080 胸膜肺芽腫 Pleuropulmonaryblastoma MONDO:0011014 http://www.w3.org/2004/02/skos/core#exactMatch 胸膜肺芽腫 pleuropulmonary blastoma https://monarchinitiative.org/MONDO:0011014 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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 筋拘縮型 Ehlers-Danlos syndrome, musculocontractural type https://monarchinitiative.org/MONDO:0011142 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 先天性筋無力症候群5 congenital myasthenic syndrome 5 https://monarchinitiative.org/MONDO:0011281 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症1B型 pseudohypoparathyroidism type 1B https://monarchinitiative.org/MONDO:0011301 NANDO:2200063 http://nanbyodata.jp/ontology/NANDO_2200063 胞巣状軟部肉腫 Alveolar soft part sarcoma MONDO:0011655 http://www.w3.org/2004/02/skos/core#exactMatch 胞巣状軟部肉腫 alveolar soft part sarcoma https://monarchinitiative.org/MONDO:0011655 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 家族性指趾関節症-短指症 familial digital arthropathy-brachydactyly https://monarchinitiative.org/MONDO:0011732 NANDO:2200015 http://nanbyodata.jp/ontology/NANDO_2200015 若年性骨髄単球性白血病 Juvenile myelomonocytic leukemia MONDO:0011908 http://www.w3.org/2004/02/skos/core#exactMatch 若年性骨髄単球性白血病 juvenile myelomonocytic leukemia https://monarchinitiative.org/MONDO:0011908 NANDO:2200013 http://nanbyodata.jp/ontology/NANDO_2200013 慢性骨髄性白血病 Chronic myeloid leukemia 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 https://monarchinitiative.org/MONDO:0011996 NANDO:2200117 http://nanbyodata.jp/ontology/NANDO_2200117 Pierson症候群 Pierson syndrome MONDO:0012184 http://www.w3.org/2004/02/skos/core#exactMatch Pierson症候群 Pierson syndrome https://monarchinitiative.org/MONDO:0012184 NANDO:2200200 http://nanbyodata.jp/ontology/NANDO_2200200 先天性肺胞蛋白症 Congenital alveolar proteinosis MONDO:0012580 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性肺胞蛋白症 hereditary pulmonary alveolar proteinosis https://monarchinitiative.org/MONDO:0012580 NANDO:2200134 http://nanbyodata.jp/ontology/NANDO_2200134 リポタンパク糸球体症 Lipoprotein glomerulopathy MONDO:0012725 http://www.w3.org/2004/02/skos/core#exactMatch リポタンパク糸球体症 lipoprotein glomerulopathy https://monarchinitiative.org/MONDO:0012725 NANDO:2200053 http://nanbyodata.jp/ontology/NANDO_2200053 ユーイング肉腫 Ewing's sarcoma MONDO:0012817 http://www.w3.org/2004/02/skos/core#exactMatch ユーイング肉腫 Ewing sarcoma https://monarchinitiative.org/MONDO:0012817 NANDO:2200007 http://nanbyodata.jp/ontology/NANDO_2200007 急性前骨髄球性白血病 Acute promyelocytic leukemia MONDO:0012883 http://www.w3.org/2004/02/skos/core#exactMatch 急性前骨髄球性白血病 acute promyelocytic leukemia https://monarchinitiative.org/MONDO:0012883 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症1C型 pseudohypoparathyroidism type 1C https://monarchinitiative.org/MONDO:0012911 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 胆汁うっ滞, 進行性家族性肝内, 5 cholestasis, progressive familial intrahepatic, 5 https://monarchinitiative.org/MONDO:0014884 NANDO:2100203 http://nanbyodata.jp/ontology/NANDO_2100203 複合免疫不全症 Combined immunodeficiency MONDO:0015131 http://www.w3.org/2004/02/skos/core#exactMatch 複合免疫不全症 combined immunodeficiency https://monarchinitiative.org/MONDO:0015131 NANDO:2200146 http://nanbyodata.jp/ontology/NANDO_2200146 バーター症候群 Bartter syndrome MONDO:0015231 http://www.w3.org/2004/02/skos/core#exactMatch バーター症候群 Bartter syndrome https://monarchinitiative.org/MONDO:0015231 NANDO:2200209 http://nanbyodata.jp/ontology/NANDO_2200209 閉塞性細気管支炎 Bronchiolitis obliterans MONDO:0015265 http://www.w3.org/2004/02/skos/core#exactMatch 閉塞性細気管支炎症候群 bronchiolitis obliterans syndrome https://monarchinitiative.org/MONDO:0015265 NANDO:2200173 http://nanbyodata.jp/ontology/NANDO_2200173 髄質海綿腎 Medullary sponge kidney MONDO:0015268 http://www.w3.org/2004/02/skos/core#exactMatch 髄質海綿腎 medullary sponge kidney https://monarchinitiative.org/MONDO:0015268 NANDO:2100221 http://nanbyodata.jp/ontology/NANDO_2100221 早老症 Progeroid syndromes MONDO:0015333 http://www.w3.org/2004/02/skos/core#exactMatch 早老症様症候群 progeroid syndrome https://monarchinitiative.org/MONDO:0015333 NANDO:1201051 http://nanbyodata.jp/ontology/NANDO_1201051 口-顔-指症候群 Oral-facial-digital syndrome MONDO:0015375 http://www.w3.org/2004/02/skos/core#exactMatch 口・顔・指症候群 orofaciodigital syndrome https://monarchinitiative.org/MONDO:0015375 NANDO:2100227 http://nanbyodata.jp/ontology/NANDO_2100227 頭蓋骨縫合早期癒合症 Craniosynostosis MONDO:0015469 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋骨癒合症 craniosynostosis https://monarchinitiative.org/MONDO:0015469 NANDO:2200037 http://nanbyodata.jp/ontology/NANDO_2200037 若年性黄色肉芽腫 Juvenile xanthogranuloma MONDO:0015534 http://www.w3.org/2004/02/skos/core#exactMatch 若年性黄色肉芽腫 juvenile xanthogranuloma https://monarchinitiative.org/MONDO:0015534 NANDO:2200032 http://nanbyodata.jp/ontology/NANDO_2200032 血球貪食性リンパ組織球症 Hemophagocytic lymphohistiocytosis MONDO:0015540 http://www.w3.org/2004/02/skos/core#exactMatch 血球貪食症候群 hemophagocytic syndrome https://monarchinitiative.org/MONDO:0015540 NANDO:2200020 http://nanbyodata.jp/ontology/NANDO_2200020 成熟B細胞リンパ腫 Mature B-cell lymphoma MONDO:0015759 http://www.w3.org/2004/02/skos/core#exactMatch B細胞性非ホジキンリンパ腫 B-cell non-Hodgkin lymphoma https://monarchinitiative.org/MONDO:0015759 NANDO:2200068 http://nanbyodata.jp/ontology/NANDO_2200068 多胎芽腫 Polyembryoma MONDO:0015863 http://www.w3.org/2004/02/skos/core#exactMatch 多胎芽腫 polyembryoma https://monarchinitiative.org/MONDO:0015863 NANDO:2200071 http://nanbyodata.jp/ontology/NANDO_2200071 混合性胚細胞腫瘍 Mixed germ cell tumour MONDO:0015864 http://www.w3.org/2004/02/skos/core#exactMatch 混合型胚細胞腫瘍 mixed germ cell tumor https://monarchinitiative.org/MONDO:0015864 NANDO:2100132 http://nanbyodata.jp/ontology/NANDO_2100132 低アルドステロン症 Hypoaldosteronism MONDO:0015900 http://www.w3.org/2004/02/skos/core#exactMatch 低アルドステロン症 hypoaldosteronism disease https://monarchinitiative.org/MONDO:0015900 NANDO:2100283 http://nanbyodata.jp/ontology/NANDO_2100283 先天性魚鱗癬 Congenital ichthyosis MONDO:0015947 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性魚鱗癬 inherited ichthyosis https://monarchinitiative.org/MONDO:0015947 NANDO:2200158 http://nanbyodata.jp/ontology/NANDO_2200158 多嚢胞性異形成腎 Multicystic dysplastic kidney MONDO:0015988 http://www.w3.org/2004/02/skos/core#exactMatch 多嚢胞性異形成腎 multicystic dysplastic kidney https://monarchinitiative.org/MONDO:0015988 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 非典型溶血性尿毒症症候群 atypical hemolytic-uremic syndrome https://monarchinitiative.org/MONDO:0016244 NANDO:2200159 http://nanbyodata.jp/ontology/NANDO_2200159 寡巨大糸球体症 Oligomeganephronia MONDO:0016407 http://www.w3.org/2004/02/skos/core#exactMatch 寡巨大糸球体症 oligomeganephronia https://monarchinitiative.org/MONDO:0016407 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 原発性線毛機能不全症 primary ciliary dyskinesia https://monarchinitiative.org/MONDO:0016575 NANDO:2200203 http://nanbyodata.jp/ontology/NANDO_2200203 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 http://www.w3.org/2004/02/skos/core#exactMatch 原発性線毛機能不全症 primary ciliary dyskinesia https://monarchinitiative.org/MONDO:0016575 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 不整脈源性右室心筋症 arrhythmogenic right ventricular cardiomyopathy https://monarchinitiative.org/MONDO:0016587 NANDO:2200094 http://nanbyodata.jp/ontology/NANDO_2200094 髄膜腫 Meningioma MONDO:0016642 http://www.w3.org/2004/02/skos/core#exactMatch 髄膜腫 meningioma https://monarchinitiative.org/MONDO:0016642 NANDO:2200086 http://nanbyodata.jp/ontology/NANDO_2200086 退形成性星細胞腫 Anaplastic astrocytoma MONDO:0016684 http://www.w3.org/2004/02/skos/core#exactMatch 退形成性星細胞腫 anaplastic astrocytoma https://monarchinitiative.org/MONDO:0016684 NANDO:2200085 http://nanbyodata.jp/ontology/NANDO_2200085 びまん性星細胞腫 Diffuse astrocytoma MONDO:0016686 http://www.w3.org/2004/02/skos/core#exactMatch びまん性星細胞腫 diffuse astrocytoma https://monarchinitiative.org/MONDO:0016686 NANDO:2200084 http://nanbyodata.jp/ontology/NANDO_2200084 毛様細胞性星細胞腫 Pilocytic astrocytoma MONDO:0016691 http://www.w3.org/2004/02/skos/core#exactMatch 毛様細胞性星細胞腫 pilocytic astrocytoma https://monarchinitiative.org/MONDO:0016691 NANDO:2200089 http://nanbyodata.jp/ontology/NANDO_2200089 乏突起神経膠腫 Oligodendroglioma MONDO:0016695 http://www.w3.org/2004/02/skos/core#exactMatch 乏突起神経膠腫 oligodendroglioma https://monarchinitiative.org/MONDO:0016695 NANDO:2200088 http://nanbyodata.jp/ontology/NANDO_2200088 上衣腫 Ependymoma MONDO:0016698 http://www.w3.org/2004/02/skos/core#exactMatch 上衣腫 ependymoma https://monarchinitiative.org/MONDO:0016698 NANDO:2200092 http://nanbyodata.jp/ontology/NANDO_2200092 松果体腫 Pineocytoma MONDO:0016723 http://www.w3.org/2004/02/skos/core#exactMatch 松果体腫 pineocytoma https://monarchinitiative.org/MONDO:0016723 NANDO:2200097 http://nanbyodata.jp/ontology/NANDO_2200097 神経節腫 Gangliocytoma MONDO:0016730 http://www.w3.org/2004/02/skos/core#exactMatch 神経節細胞腫 gangliocytoma https://monarchinitiative.org/MONDO:0016730 NANDO:2200096 http://nanbyodata.jp/ontology/NANDO_2200096 神経節膠腫 Ganglioglioma MONDO:0016733 http://www.w3.org/2004/02/skos/core#exactMatch 神経節膠腫 ganglioglioma https://monarchinitiative.org/MONDO:0016733 NANDO:2100148 http://nanbyodata.jp/ontology/NANDO_2100148 多発性内分泌腫瘍 Multiple endocrine neoplasia MONDO:0017169 http://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍 multiple endocrine neoplasia https://monarchinitiative.org/MONDO:0017169 NANDO:2100125 http://nanbyodata.jp/ontology/NANDO_2100125 自己免疫性多内分泌腺症候群 Autoimmune polyendocrinopathy MONDO:0017278 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性多発性内分泌症 autoimmune polyendocrinopathy https://monarchinitiative.org/MONDO:0017278 NANDO:1201074 http://nanbyodata.jp/ontology/NANDO_1201074 孔脳症 Porencephaly MONDO:0017410 http://www.w3.org/2004/02/skos/core#exactMatch 孔脳症 porencephaly https://monarchinitiative.org/MONDO:0017410 NANDO:2200102 http://nanbyodata.jp/ontology/NANDO_2200102 悪性神経鞘腫 Malignant neurinoma MONDO:0017827 http://www.w3.org/2004/02/skos/core#exactMatch 悪性腹膜神経鞘腫 malignant peripheral nerve sheath tumor https://monarchinitiative.org/MONDO:0017827 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch Senior-Loken症候群 Senior-Loken syndrome https://monarchinitiative.org/MONDO:0017842 NANDO:2200010 http://nanbyodata.jp/ontology/NANDO_2200010 急性赤白血病 Acute erythremia MONDO:0017858 http://www.w3.org/2004/02/skos/core#exactMatch 急性赤白血病 acute erythroid leukemia https://monarchinitiative.org/MONDO:0017858 NANDO: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://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 https://monarchinitiative.org/MONDO:0017990 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://www.w3.org/2004/02/skos/core#exactMatch エルドハイム・チェスター病 Erdheim-Chester disease https://monarchinitiative.org/MONDO:0018153 NANDO:2200087 http://nanbyodata.jp/ontology/NANDO_2200087 膠芽腫 Glioblastoma MONDO:0018177 http://www.w3.org/2004/02/skos/core#exactMatch 膠芽腫 glioblastoma https://monarchinitiative.org/MONDO:0018177 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://www.w3.org/2004/02/skos/core#exactMatch 未分化神経外胚葉性腫瘍（末梢性のものに限る。） peripheral primitive neuroectodermal tumor https://monarchinitiative.org/MONDO:0018271 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 脳内鉄沈着神経変性症 neurodegeneration with brain iron accumulation https://monarchinitiative.org/MONDO:0018307 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://www.w3.org/2004/02/skos/core#exactMatch ランゲルハンス細胞組織球症 Langerhans cell histiocytosis https://monarchinitiative.org/MONDO:0018310 NANDO:2200156 http://nanbyodata.jp/ontology/NANDO_2200156 腎無形成 Renal aplasia MONDO:0018470 http://www.w3.org/2004/02/skos/core#exactMatch 腎無発生 renal agenesis https://monarchinitiative.org/MONDO:0018470 NANDO:2200046 http://nanbyodata.jp/ontology/NANDO_2200046 肝芽腫 Hepatoblastoma MONDO:0018666 http://www.w3.org/2004/02/skos/core#exactMatch 肝芽腫 hepatoblastoma https://monarchinitiative.org/MONDO:0018666 NANDO:1201072 http://nanbyodata.jp/ontology/NANDO_1201072 敷石様皮質異形成 Cobblestone brain malformation MONDO:0018869 http://www.w3.org/2004/02/skos/core#exactMatch 敷石様皮質異形成 cobblestone lissencephaly https://monarchinitiative.org/MONDO:0018869 NANDO:2200011 http://nanbyodata.jp/ontology/NANDO_2200011 急性巨核芽球性白血病 Acute megakaryoblastic leukemia MONDO:0018872 http://www.w3.org/2004/02/skos/core#exactMatch 急性巨核芽球性白血病 acute megakaryoblastic leukemia https://monarchinitiative.org/MONDO:0018872 NANDO:2200019 http://nanbyodata.jp/ontology/NANDO_2200019 骨髄異形成症候群 Myelodysplastic syndrome MONDO:0018881 http://www.w3.org/2004/02/skos/core#exactMatch 骨髄異形成症候群 myelodysplastic syndrome https://monarchinitiative.org/MONDO:0018881 NANDO:2200091 http://nanbyodata.jp/ontology/NANDO_2200091 頭蓋咽頭腫 Craniopharyngioma MONDO:0018907 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋咽頭腫 craniopharyngioma https://monarchinitiative.org/MONDO:0018907 NANDO:2200184 http://nanbyodata.jp/ontology/NANDO_2200184 巨大尿管症 Megaureter MONDO:0018960 http://www.w3.org/2004/02/skos/core#exactMatch 先天性原発性巨大尿管症 congenital primary megaureter https://monarchinitiative.org/MONDO:0018960 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch アルポート症候群 Alport syndrome https://monarchinitiative.org/MONDO:0018965 NANDO:2200043 http://nanbyodata.jp/ontology/NANDO_2200043 ウィルムス腫瘍／腎芽腫 Wilms tumour MONDO:0019004 http://www.w3.org/2004/02/skos/core#exactMatch 腎ウィルムス腫瘍 kidney Wilms tumor https://monarchinitiative.org/MONDO:0019004 NANDO:2200140 http://nanbyodata.jp/ontology/NANDO_2200140 ネフロン癆 Nephronophthisis MONDO:0019005 http://www.w3.org/2004/02/skos/core#exactMatch ネフロン癆 nephronophthisis https://monarchinitiative.org/MONDO:0019005 NANDO:2200082 http://nanbyodata.jp/ontology/NANDO_2200082 膵芽腫 Pancreatoblastoma MONDO:0019035 http://www.w3.org/2004/02/skos/core#exactMatch 膵芽腫 pancreatoblastoma https://monarchinitiative.org/MONDO:0019035 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://www.w3.org/2004/02/skos/core#exactMatch 染色体異常 chromosomal disorder https://monarchinitiative.org/MONDO:0019040 NANDO:2100159 http://nanbyodata.jp/ontology/NANDO_2100159 先天性代謝異常 Inborn errors of metabolism MONDO:0019052 http://www.w3.org/2004/02/skos/core#exactMatch 先天性代謝異常 inborn errors of metabolism https://monarchinitiative.org/MONDO:0019052 NANDO:2100166 http://nanbyodata.jp/ontology/NANDO_2100166 ペルオキシソーム病 Peroxisomal disorder MONDO:0019053 http://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム病 peroxisomal disease https://monarchinitiative.org/MONDO:0019053 NANDO:2100214 http://nanbyodata.jp/ontology/NANDO_2100214 神経・筋疾患 Neuromuscular disease MONDO:0019056 http://www.w3.org/2004/02/skos/core#exactMatch 神経筋疾患 neuromuscular disease https://monarchinitiative.org/MONDO:0019056 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://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 https://monarchinitiative.org/MONDO:0019145 NANDO:2100164 http://nanbyodata.jp/ontology/NANDO_2100164 糖質代謝異常症 Disorder of carbohydrate metabolism MONDO:0019214 http://www.w3.org/2004/02/skos/core#exactMatch 糖質代謝異常症 inborn carbohydrate metabolic disorder https://monarchinitiative.org/MONDO:0019214 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 線維形成性小円形細胞腫瘍 desmoplastic small round cell tumor https://monarchinitiative.org/MONDO:0019373 NANDO:2200435 http://nanbyodata.jp/ontology/NANDO_2200435 中條・西村症候群 Nakajo-Nishimura syndrome MONDO:0009726 http://www.w3.org/2004/02/skos/core#exactMatch プロテアソーム関連自己炎症症候群 proteosome-associated autoinflammatory syndrome https://monarchinitiative.org/MONDO:0009726 NANDO:2200438 http://nanbyodata.jp/ontology/NANDO_2200438 慢性再発性多発性骨髄炎 Chronic recurrent multifocal osteomyelitis MONDO:0009813 http://www.w3.org/2004/02/skos/core#exactMatch 慢性再発性多発性骨髄炎 chronic recurrent multifocal osteomyelitis https://monarchinitiative.org/MONDO:0009813 NANDO:2200467 http://nanbyodata.jp/ontology/NANDO_2200467 フェニルケトン尿症 Phenylketonuria MONDO:0009861 http://www.w3.org/2004/02/skos/core#exactMatch フェニルケトン尿症 phenylketonuria https://monarchinitiative.org/MONDO:0009861 NANDO: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://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 https://monarchinitiative.org/MONDO:0009916 NANDO:2200389 http://nanbyodata.jp/ontology/NANDO_2200389 5α-還元酵素欠損症 5 alpha-reductase deficiency 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 https://monarchinitiative.org/MONDO:0009923 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://www.w3.org/2004/02/skos/core#exactMatch 肺動脈閉鎖症-心室中隔欠損を伴わない pulmonary atresia-intact ventricular septum syndrome https://monarchinitiative.org/MONDO:0009931 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性多発性内分泌症2型 autoimmune polyendocrinopathy type 2 https://monarchinitiative.org/MONDO:0010012 NANDO:2200420 http://nanbyodata.jp/ontology/NANDO_2200420 シェーグレン症候群 Sjogren's syndrome MONDO:0010030 http://www.w3.org/2004/02/skos/core#exactMatch シェーグレン症候群 Sjogren syndrome https://monarchinitiative.org/MONDO:0010030 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch インスリン様成長因子I抵抗性による成長遅延 growth delay due to insulin-like growth factor I resistance https://monarchinitiative.org/MONDO:0010038 NANDO:2200469 http://nanbyodata.jp/ontology/NANDO_2200469 高チロシン血症2型 Tyrosinemia type 2 MONDO:0010160 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症II型 tyrosinemia type II https://monarchinitiative.org/MONDO:0010160 NANDO:2200468 http://nanbyodata.jp/ontology/NANDO_2200468 高チロシン血症1型 Tyrosinemia type 1 MONDO:0010161 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症I型 tyrosinemia type I https://monarchinitiative.org/MONDO:0010161 NANDO:2200470 http://nanbyodata.jp/ontology/NANDO_2200470 高チロシン血症3型 Tyrosinemia type 3 MONDO:0010162 http://www.w3.org/2004/02/skos/core#exactMatch チロシン血症III型 tyrosinemia type III https://monarchinitiative.org/MONDO:0010162 NANDO:2200443 http://nanbyodata.jp/ontology/NANDO_2200443 CARD14異常症 CARD14 deficiency MONDO:0011269 http://www.w3.org/2004/02/skos/core#exactMatch 乾癬2 psoriasis 2 https://monarchinitiative.org/MONDO:0011269 NANDO:2200457 http://nanbyodata.jp/ontology/NANDO_2200457 SLC29A3異常症 SLC29A3 deficiency MONDO:0011273 http://www.w3.org/2004/02/skos/core#exactMatch H症候群 H syndrome https://monarchinitiative.org/MONDO:0011273 NANDO:2200415 http://nanbyodata.jp/ontology/NANDO_2200415 若年性特発性関節炎 Juvenile idiopathic arthritis MONDO:0011429 http://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎 juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0011429 NANDO:2200437 http://nanbyodata.jp/ontology/NANDO_2200437 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://www.w3.org/2004/02/skos/core#exactMatch 化膿性関節炎-壊疽性膿皮症-ざ瘡症候群 pyogenic arthritis-pyoderma gangrenosum-acne syndrome https://monarchinitiative.org/MONDO:0011462 NANDO:2200251 http://nanbyodata.jp/ontology/NANDO_2200251 三尖弁閉鎖症 Tricuspid atresia MONDO:0011514 http://www.w3.org/2004/02/skos/core#exactMatch 三尖弁閉鎖症 tricuspid atresia https://monarchinitiative.org/MONDO:0011514 NANDO:2200264 http://nanbyodata.jp/ontology/NANDO_2200264 動脈管開存症 Patent ductus arteriosus MONDO:0011827 http://www.w3.org/2004/02/skos/core#exactMatch 動脈管開存 patent ductus arteriosus https://monarchinitiative.org/MONDO:0011827 NANDO:2200424 http://nanbyodata.jp/ontology/NANDO_2200424 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis MONDO:0012105 http://www.w3.org/2004/02/skos/core#exactMatch 多発血管炎性肉芽腫症 granulomatosis with polyangiitis https://monarchinitiative.org/MONDO:0012105 NANDO:2200453 http://nanbyodata.jp/ontology/NANDO_2200453 Majeed症候群 Majeed syndrome MONDO:0012316 http://www.w3.org/2004/02/skos/core#exactMatch マジード症候群 Majeed syndrome https://monarchinitiative.org/MONDO:0012316 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://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 https://monarchinitiative.org/MONDO:0012724 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://www.w3.org/2004/02/skos/core#exactMatch 偽性偽性副甲状腺機能低下症 pseudopseudohypoparathyroidism https://monarchinitiative.org/MONDO:0012912 NANDO:2200448 http://nanbyodata.jp/ontology/NANDO_2200448 IL-10RB欠損症 IL-10RB deficiency MONDO:0012941 http://www.w3.org/2004/02/skos/core#exactMatch 炎症性腸疾患25 inflammatory bowel disease 25 https://monarchinitiative.org/MONDO:0012941 NANDO:2200439 http://nanbyodata.jp/ontology/NANDO_2200439 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://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 https://monarchinitiative.org/MONDO:0013021 NANDO:2200447 http://nanbyodata.jp/ontology/NANDO_2200447 IL-10RA欠損症 IL-10RA deficiency MONDO:0013153 http://www.w3.org/2004/02/skos/core#exactMatch 炎症性腸疾患28 inflammatory bowel disease 28 https://monarchinitiative.org/MONDO:0013153 NANDO:2200375 http://nanbyodata.jp/ontology/NANDO_2200375 P450酸化還元酵素欠損症 P450 oxidoreductase deficiency 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 https://monarchinitiative.org/MONDO:0013310 NANDO:2200452 http://nanbyodata.jp/ontology/NANDO_2200452 IL36RN欠損症 IL36RN deficiency MONDO:0013626 http://www.w3.org/2004/02/skos/core#exactMatch 乾癬14, 膿疱性 psoriasis 14, pustular https://monarchinitiative.org/MONDO:0013626 NANDO:2200455 http://nanbyodata.jp/ontology/NANDO_2200455 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://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 https://monarchinitiative.org/MONDO:0013766 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://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 https://monarchinitiative.org/MONDO:0013944 NANDO:2200441 http://nanbyodata.jp/ontology/NANDO_2200441 ADA2欠損症 Adenosine deaminase 2 deficiency 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 https://monarchinitiative.org/MONDO:0014306 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://www.w3.org/2004/02/skos/core#exactMatch グルココルチコイド抵抗症 glucocorticoid resistance https://monarchinitiative.org/MONDO:0014421 NANDO:2200459 http://nanbyodata.jp/ontology/NANDO_2200459 NLRC4異常症 NLRC4 mutation 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 https://monarchinitiative.org/MONDO:0014472 NANDO:2200360 http://nanbyodata.jp/ontology/NANDO_2200360 アジソン病 Addison's disease 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 https://monarchinitiative.org/MONDO:0015129 NANDO:2200293 http://nanbyodata.jp/ontology/NANDO_2200293 バルサルバ洞動脈瘤 Aneurysm of sinus valsalva MONDO:0015197 http://www.w3.org/2004/02/skos/core#exactMatch バルサルバ洞動脈瘤 aneurysm of sinus of Valsalva https://monarchinitiative.org/MONDO:0015197 NANDO:2200414 http://nanbyodata.jp/ontology/NANDO_2200414 バルデー・ビードル症候群 Bardet-Biedl syndrome MONDO:0015229 http://www.w3.org/2004/02/skos/core#exactMatch バルデー・ビードル症候群 Bardet-Biedl syndrome https://monarchinitiative.org/MONDO:0015229 NANDO:2200269 http://nanbyodata.jp/ontology/NANDO_2200269 完全型房室中隔欠損症 Complete atrioventricular septal defect MONDO:0015273 http://www.w3.org/2004/02/skos/core#exactMatch 完全型房室中隔欠損症 complete atrioventricular canal https://monarchinitiative.org/MONDO:0015273 NANDO:2200268 http://nanbyodata.jp/ontology/NANDO_2200268 不完全型房室中隔欠損症 Incomplete atrioventricular septal defect MONDO:0015275 http://www.w3.org/2004/02/skos/core#exactMatch 不完全型房室中隔欠損症 partial atrioventricular canal https://monarchinitiative.org/MONDO:0015275 NANDO:2200263 http://nanbyodata.jp/ontology/NANDO_2200263 三心房心 Cor triatriatum MONDO:0015450 http://www.w3.org/2004/02/skos/core#exactMatch 三房心 triatrial heart https://monarchinitiative.org/MONDO:0015450 NANDO:2200250 http://nanbyodata.jp/ontology/NANDO_2200250 単心室症 Single ventricle MONDO:0015451 http://www.w3.org/2004/02/skos/core#exactMatch 単心室症 univentricular heart https://monarchinitiative.org/MONDO:0015451 NANDO:2200324 http://nanbyodata.jp/ontology/NANDO_2200324 中枢性尿崩症 Central diabetes insipidus MONDO:0015790 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性尿崩症 central diabetes insipidus https://monarchinitiative.org/MONDO:0015790 NANDO:2200378 http://nanbyodata.jp/ontology/NANDO_2200378 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://www.w3.org/2004/02/skos/core#exactMatch 末梢性思春期早発症 peripheral precocious puberty https://monarchinitiative.org/MONDO:0015791 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://www.w3.org/2004/02/skos/core#exactMatch 成長ホルモン不応性症候群 growth hormone insensitivity syndrome https://monarchinitiative.org/MONDO:0015892 NANDO:2200298 http://nanbyodata.jp/ontology/NANDO_2200298 肺動脈性肺高血圧症 Pulmonary arterial hypertension MONDO:0015924 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈性肺高血圧症 pulmonary arterial hypertension https://monarchinitiative.org/MONDO:0015924 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 好酸球性多発血管炎性肉芽腫症 eosinophilic granulomatosis with polyangiitis https://monarchinitiative.org/MONDO:0015943 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 遅発性孤立性ACTH欠損症 late-onset isolated ACTH deficiency https://monarchinitiative.org/MONDO:0016042 NANDO:2200296 http://nanbyodata.jp/ontology/NANDO_2200296 冠動脈瘻 Coronary artery fistula MONDO:0016081 http://www.w3.org/2004/02/skos/core#exactMatch 冠動脈瘻 coronary arterial fistulas https://monarchinitiative.org/MONDO:0016081 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://www.w3.org/2004/02/skos/core#exactMatch クリオピリン関連周期熱症候群 cryopyrin-associated periodic syndrome https://monarchinitiative.org/MONDO:0016168 NANDO:2200387 http://nanbyodata.jp/ontology/NANDO_2200387 卵精巣性性分化疾患 Ovotesticular dsd 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 https://monarchinitiative.org/MONDO:0016281 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://www.w3.org/2004/02/skos/core#exactMatch 修正大血管転位症 congenitally corrected transposition of the great arteries https://monarchinitiative.org/MONDO:0016301 NANDO:2200326 http://nanbyodata.jp/ontology/NANDO_2200326 腎性尿崩症 Nephrogenic diabetes insipidus MONDO:0016383 http://www.w3.org/2004/02/skos/core#exactMatch 先天性腎性尿崩症 nephrogenic diabetes insipidus https://monarchinitiative.org/MONDO:0016383 NANDO:2200463 http://nanbyodata.jp/ontology/NANDO_2200463 新生児糖尿病 Neonatal diabetes mellitus MONDO:0016391 http://www.w3.org/2004/02/skos/core#exactMatch 新生児糖尿病 neonatal diabetes mellitus https://monarchinitiative.org/MONDO:0016391 NANDO: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://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 https://monarchinitiative.org/MONDO:0016410 NANDO:2200446 http://nanbyodata.jp/ontology/NANDO_2200446 IL10欠損症 IL10 deficiency 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 https://monarchinitiative.org/MONDO:0016542 NANDO:2200275 http://nanbyodata.jp/ontology/NANDO_2200275 右室二腔症 Double-chambered right ventricle MONDO:0016581 http://www.w3.org/2004/02/skos/core#exactMatch 円錐動脈幹異常 conotruncal heart malformations https://monarchinitiative.org/MONDO:0016581 NANDO:2200436 http://nanbyodata.jp/ontology/NANDO_2200436 高IgD症候群 Hyper IgD syndrome 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 https://monarchinitiative.org/MONDO:0017708 NANDO:2200273 http://nanbyodata.jp/ontology/NANDO_2200273 肺静脈狭窄症 Pulmonary venous obstruction 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 https://monarchinitiative.org/MONDO:0017864 NANDO:2200278 http://nanbyodata.jp/ontology/NANDO_2200278 肺動脈弁上狭窄症 Supravalvular pulmonary stenosis MONDO:0017870 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弁上狭窄症 supravalvular pulmonary stenosis https://monarchinitiative.org/MONDO:0017870 NANDO:2200423 http://nanbyodata.jp/ontology/NANDO_2200423 高安動脈炎 Takayasu arteritis MONDO:0017991 http://www.w3.org/2004/02/skos/core#exactMatch 高安動脈炎 Takayasu arteritis https://monarchinitiative.org/MONDO:0017991 NANDO:2200261 http://nanbyodata.jp/ontology/NANDO_2200261 総動脈幹遺残症 Truncus arteriosus communis MONDO:0018072 http://www.w3.org/2004/02/skos/core#exactMatch 総動脈幹遺残症 persistent truncus arteriosus https://monarchinitiative.org/MONDO:0018072 NANDO:2200431 http://nanbyodata.jp/ontology/NANDO_2200431 家族性地中海熱 Familial Mediterranean fever MONDO:0018088 http://www.w3.org/2004/02/skos/core#exactMatch 家族性地中海熱 familial Mediterranean fever https://monarchinitiative.org/MONDO:0018088 NANDO:2200256 http://nanbyodata.jp/ontology/NANDO_2200256 両大血管右室起始症 Double outlet right ventricle MONDO:0018089 http://www.w3.org/2004/02/skos/core#exactMatch 両大血管右室起始症 double outlet right ventricle https://monarchinitiative.org/MONDO:0018089 NANDO:2200257 http://nanbyodata.jp/ontology/NANDO_2200257 両大血管左室起始症 Double-outlet left ventricle MONDO:0018090 http://www.w3.org/2004/02/skos/core#exactMatch 両大血管左室起始症 double outlet left ventricle https://monarchinitiative.org/MONDO:0018090 NANDO:2200370 http://nanbyodata.jp/ontology/NANDO_2200370 リポイド副腎過形成症 Congenital lipoid adrenal hyperplasia MONDO:0018479 http://www.w3.org/2004/02/skos/core#exactMatch 先天性副腎皮質酵素欠損症 congenital adrenal hyperplasia https://monarchinitiative.org/MONDO:0018479 NANDO:2200382 http://nanbyodata.jp/ontology/NANDO_2200382 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 http://www.w3.org/2004/02/skos/core#exactMatch 低ゴナドトロピン性性腺機能低下症 hypogonadotropic hypogonadism https://monarchinitiative.org/MONDO:0018555 NANDO:2200333 http://nanbyodata.jp/ontology/NANDO_2200333 先天性甲状腺機能低下症 Congenital hypothyroidism MONDO:0018612 http://www.w3.org/2004/02/skos/core#exactMatch 先天性甲状腺機能低下症 congenital hypothyroidism https://monarchinitiative.org/MONDO:0018612 NANDO:2200325 http://nanbyodata.jp/ontology/NANDO_2200325 口渇中枢障害を伴う高ナトリウム血症 Adipsic hypernatremia 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 https://monarchinitiative.org/MONDO:0018620 NANDO:2200367 http://nanbyodata.jp/ontology/NANDO_2200367 偽性低アルドステロン症 Pseudohypoaldosteronism MONDO:0018638 http://www.w3.org/2004/02/skos/core#exactMatch 偽性低アルドステロン症 pseudohypoaldosteronism https://monarchinitiative.org/MONDO:0018638 NANDO:2200312 http://nanbyodata.jp/ontology/NANDO_2200312 先天性下垂体機能低下症 Congenital hypopituitarism MONDO:0018762 http://www.w3.org/2004/02/skos/core#exactMatch 非後天性複合下垂体ホルモン欠損症 non-acquired combined pituitary hormone deficiency https://monarchinitiative.org/MONDO:0018762 NANDO:2200381 http://nanbyodata.jp/ontology/NANDO_2200381 カルマン症候群 Kallmann syndrome MONDO:0018800 http://www.w3.org/2004/02/skos/core#exactMatch カルマン症候群 Kallmann syndrome https://monarchinitiative.org/MONDO:0018800 NANDO:2200231 http://nanbyodata.jp/ontology/NANDO_2200231 心筋緻密化障害 Non-compaction of the ventricle MONDO:0018901 http://www.w3.org/2004/02/skos/core#exactMatch 心筋緻密化障害 left ventricular noncompaction https://monarchinitiative.org/MONDO:0018901 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 若年発症成人型糖尿病 maturity-onset diabetes of the young https://monarchinitiative.org/MONDO:0018911 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch マッキューン・オルブライト症候群 McCune-Albright syndrome https://monarchinitiative.org/MONDO:0018919 NANDO:2200413 http://nanbyodata.jp/ontology/NANDO_2200413 ヌーナン症候群 Noonan syndrome MONDO:0018997 http://www.w3.org/2004/02/skos/core#exactMatch ヌーナン症候群 Noonan syndrome https://monarchinitiative.org/MONDO:0018997 NANDO:2200406 http://nanbyodata.jp/ontology/NANDO_2200406 多発性内分泌腫瘍2型 Multiple endocrine neoplasia type 2 MONDO:0019003 http://www.w3.org/2004/02/skos/core#exactMatch 多発性内分泌腫瘍2型 multiple endocrine neoplasia type 2 https://monarchinitiative.org/MONDO:0019003 NANDO:2200426 http://nanbyodata.jp/ontology/NANDO_2200426 顕微鏡的多発血管炎 Microscopic polyangiitis MONDO:0019124 http://www.w3.org/2004/02/skos/core#exactMatch 顕微鏡的多発血管炎 microscopic polyangiitis https://monarchinitiative.org/MONDO:0019124 NANDO:2200428 http://nanbyodata.jp/ontology/NANDO_2200428 再発性多発軟骨炎 Relapsing polychondritis MONDO:0019125 http://www.w3.org/2004/02/skos/core#exactMatch 再発性多発軟骨炎 relapsing polychondritis https://monarchinitiative.org/MONDO:0019125 NANDO:2200391 http://nanbyodata.jp/ontology/NANDO_2200391 アンドロゲン不応症 Androgen insensitivity syndrome MONDO:0019154 http://www.w3.org/2004/02/skos/core#exactMatch アンドロゲン不応症 androgen insensitivity syndrome https://monarchinitiative.org/MONDO:0019154 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 偽性低アルドステロン症1型 pseudohypoaldosteronism type 1 https://monarchinitiative.org/MONDO:0019161 NANDO:2200369 http://nanbyodata.jp/ontology/NANDO_2200369 偽性低アルドステロン症II型 Pseudohypoaldosteronism type II MONDO:0019162 http://www.w3.org/2004/02/skos/core#exactMatch 偽性低アルドステロン症2型 pseudohypoaldosteronism type 2 https://monarchinitiative.org/MONDO:0019162 NANDO:2200377 http://nanbyodata.jp/ontology/NANDO_2200377 ゴナドトロピン依存性思春期早発症 Gonadotropin-dependent precocious puberty MONDO:0019165 http://www.w3.org/2004/02/skos/core#exactMatch 中枢性思春期早発症 central precocious puberty https://monarchinitiative.org/MONDO:0019165 NANDO:2200425 http://nanbyodata.jp/ontology/NANDO_2200425 結節性多発血管炎 Polyangiitis nodosa MONDO:0019170 http://www.w3.org/2004/02/skos/core#exactMatch 結節性多発動脈炎 polyarteritis nodosa https://monarchinitiative.org/MONDO:0019170 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch カルニチンパルミトイルトランスフェラーゼ1A欠損症 carnitine palmitoyl transferase 1A deficiency https://monarchinitiative.org/MONDO:0009705 NANDO:2200527 http://nanbyodata.jp/ontology/NANDO_2200527 リー症候群 Leigh syndrome MONDO:0009723 http://www.w3.org/2004/02/skos/core#exactMatch リー症候群 Leigh syndrome https://monarchinitiative.org/MONDO:0009723 NANDO:2200557 http://nanbyodata.jp/ontology/NANDO_2200557 ガラクトシアリドーシス Galactosialidosis MONDO:0009737 http://www.w3.org/2004/02/skos/core#exactMatch ガラクトシアリドーシス galactosialidosis https://monarchinitiative.org/MONDO:0009737 NANDO:2200590 http://nanbyodata.jp/ontology/NANDO_2200590 オロト酸尿症 Orotic aciduria MONDO:0009797 http://www.w3.org/2004/02/skos/core#exactMatch オロチン酸尿症 orotic aciduria https://monarchinitiative.org/MONDO:0009797 NANDO:2200671 http://nanbyodata.jp/ontology/NANDO_2200671 スコット症候群 Scott syndrome MONDO:0009885 http://www.w3.org/2004/02/skos/core#exactMatch Scott症候群 Scott syndrome https://monarchinitiative.org/MONDO:0009885 NANDO:2200643 http://nanbyodata.jp/ontology/NANDO_2200643 真性多血症 Polycythemia vera 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 https://monarchinitiative.org/MONDO:0009891 NANDO:2200631 http://nanbyodata.jp/ontology/NANDO_2200631 遺伝性熱変形赤血球症 Hereditary pyropoikilocytosis MONDO:0009948 http://www.w3.org/2004/02/skos/core#exactMatch 熱変形赤血球症, 遺伝性 pyropoikilocytosis, hereditary https://monarchinitiative.org/MONDO:0009948 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ピルビン酸カルボキシラーゼ欠損症 pyruvate carboxylase deficiency disease https://monarchinitiative.org/MONDO:0009949 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 赤血球ピルビン酸キナーゼ欠乏症 pyruvate kinase deficiency of red cells https://monarchinitiative.org/MONDO:0009950 NANDO:2200577 http://nanbyodata.jp/ontology/NANDO_2200577 レフサム病 Refsum disease MONDO:0009958 http://www.w3.org/2004/02/skos/core#exactMatch 成人レフサム病 adult Refsum disease https://monarchinitiative.org/MONDO:0009958 NANDO:2200599 http://nanbyodata.jp/ontology/NANDO_2200599 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://www.w3.org/2004/02/skos/core#exactMatch コハク酸セミアルデヒド脱水素酵素欠損症 succinic semialdehyde dehydrogenase deficiency https://monarchinitiative.org/MONDO:0010083 NANDO:2200566 http://nanbyodata.jp/ontology/NANDO_2200566 マルチプルスルファターゼ欠損症 Multiple sulfatase deficiency MONDO:0010088 http://www.w3.org/2004/02/skos/core#exactMatch マルチプルサルファターゼ欠損症 mucosulfatidosis https://monarchinitiative.org/MONDO:0010088 NANDO:2200583 http://nanbyodata.jp/ontology/NANDO_2200583 亜硫酸酸化酵素欠損症 Sulfite oxidase deficiency MONDO:0010089 http://www.w3.org/2004/02/skos/core#exactMatch 亜硫酸オキシダーゼ単独欠損症 isolated sulfite oxidase deficiency https://monarchinitiative.org/MONDO:0010089 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 血小板減少-橈骨欠損症候群 thrombocytopenia-absent radius syndrome https://monarchinitiative.org/MONDO:0010121 NANDO:2200579 http://nanbyodata.jp/ontology/NANDO_2200579 ウィルソン病 Wilson disease MONDO:0010200 http://www.w3.org/2004/02/skos/core#exactMatch ウィルソン病 Wilson disease https://monarchinitiative.org/MONDO:0010200 NANDO:2200563 http://nanbyodata.jp/ontology/NANDO_2200563 ファブリー病 Fabry disease MONDO:0010526 http://www.w3.org/2004/02/skos/core#exactMatch ファブリー病 Fabry disease https://monarchinitiative.org/MONDO:0010526 NANDO:2200581 http://nanbyodata.jp/ontology/NANDO_2200581 オクシピタル・ホーン症候群 Occipital horn syndrome MONDO:0010572 http://www.w3.org/2004/02/skos/core#exactMatch オクシピタル・ホーン症候群 occipital horn syndrome https://monarchinitiative.org/MONDO:0010572 NANDO:2200676 http://nanbyodata.jp/ontology/NANDO_2200676 血友病Ａ Hemophilia A MONDO:0010602 http://www.w3.org/2004/02/skos/core#exactMatch 血友病A hemophilia A https://monarchinitiative.org/MONDO:0010602 NANDO:2200505 http://nanbyodata.jp/ontology/NANDO_2200505 グリセロール尿症 Glycerol kinase deficiency MONDO:0010613 http://www.w3.org/2004/02/skos/core#exactMatch 先天性グリセロールキナーゼ欠損症 inborn glycerol kinase deficiency https://monarchinitiative.org/MONDO:0010613 NANDO:2200580 http://nanbyodata.jp/ontology/NANDO_2200580 メンケス病 Menkes disease MONDO:0010651 http://www.w3.org/2004/02/skos/core#exactMatch メンケス病 Menkes disease https://monarchinitiative.org/MONDO:0010651 NANDO:2200548 http://nanbyodata.jp/ontology/NANDO_2200548 ムコ多糖症II型 Mucopolysaccharidosis type II MONDO:0010674 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型 mucopolysaccharidosis type 2 https://monarchinitiative.org/MONDO:0010674 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch OTC欠損症 ornithine carbamoyltransferase deficiency https://monarchinitiative.org/MONDO:0010703 NANDO:2200529 http://nanbyodata.jp/ontology/NANDO_2200529 カーンズ・セイヤー症候群 Kearns-Sayre syndrome MONDO:0010787 http://www.w3.org/2004/02/skos/core#exactMatch カーンズ・セイヤー症候群 Kearns-Sayre syndrome https://monarchinitiative.org/MONDO:0010787 NANDO:2200525 http://nanbyodata.jp/ontology/NANDO_2200525 MELAS Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) MONDO:0010789 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア脳筋症，乳酸アシドーシス，脳卒中様エピソード MELAS syndrome https://monarchinitiative.org/MONDO:0010789 NANDO:2200526 http://nanbyodata.jp/ontology/NANDO_2200526 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://www.w3.org/2004/02/skos/core#exactMatch 赤色ぼろ線維・ミオクローヌスてんかん症候群 MERRF syndrome https://monarchinitiative.org/MONDO:0010790 NANDO:2200624 http://nanbyodata.jp/ontology/NANDO_2200624 鎌状赤血球症 Sickle cell disease MONDO:0011382 http://www.w3.org/2004/02/skos/core#exactMatch 鎌状赤血球症 sickle cell disease https://monarchinitiative.org/MONDO:0011382 NANDO:2200582 http://nanbyodata.jp/ontology/NANDO_2200582 無セルロプラスミン血症 Aceruloplasminemia MONDO:0011426 http://www.w3.org/2004/02/skos/core#exactMatch NBIA４ aceruloplasminemia https://monarchinitiative.org/MONDO:0011426 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://www.w3.org/2004/02/skos/core#exactMatch 橈尺骨癒合-無巨核球性血小板減少症候群 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome https://monarchinitiative.org/MONDO:0011555 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch グリシン脳症 glycine encephalopathy https://monarchinitiative.org/MONDO:0011612 NANDO:2200498 http://nanbyodata.jp/ontology/NANDO_2200498 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://www.w3.org/2004/02/skos/core#exactMatch 3-ヒドロキシ-3-メチルグルタリルCoA合成酵素欠損症 3-hydroxy-3-methylglutaryl-CoA synthase deficiency https://monarchinitiative.org/MONDO:0011614 NANDO:2200492 http://nanbyodata.jp/ontology/NANDO_2200492 プロピオン酸血症 Propionic acidemia MONDO:0011628 http://www.w3.org/2004/02/skos/core#exactMatch プロピオン酸血症 propionic acidemia https://monarchinitiative.org/MONDO:0011628 NANDO:2200545 http://nanbyodata.jp/ontology/NANDO_2200545 グルコーストランスポーター1欠損症 Glucose transporter 1 deficiency MONDO:0011724 http://www.w3.org/2004/02/skos/core#exactMatch GLUT1欠損による脳症 encephalopathy due to GLUT1 deficiency https://monarchinitiative.org/MONDO:0011724 NANDO:2200520 http://nanbyodata.jp/ontology/NANDO_2200520 フマラーゼ欠損症 Fumarase deficiency MONDO:0011730 http://www.w3.org/2004/02/skos/core#exactMatch フマラーゼ欠損症 fumaric aciduria https://monarchinitiative.org/MONDO:0011730 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 芳香族L-アミノ酸脱炭酸酵素欠損症 aromatic L-amino acid decarboxylase deficiency https://monarchinitiative.org/MONDO:0012084 NANDO:2200515 http://nanbyodata.jp/ontology/NANDO_2200515 三頭酵素欠損症 Trifunctional protein deficiency 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 https://monarchinitiative.org/MONDO:0012172 NANDO:2200669 http://nanbyodata.jp/ontology/NANDO_2200669 ADP受容体異常症 ADP receptor deficiencies MONDO:0012354 http://www.w3.org/2004/02/skos/core#exactMatch 血小板型出血性疾患8 platelet-type bleeding disorder 8 https://monarchinitiative.org/MONDO:0012354 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch GABAアミノ基転移酵素欠損症 GABA aminotransaminase deficiency https://monarchinitiative.org/MONDO:0013166 NANDO:2200611 http://nanbyodata.jp/ontology/NANDO_2200611 α1-アンチトリプシン欠損症 Alpha-1-antitrypsin deficiency MONDO:0013282 http://www.w3.org/2004/02/skos/core#exactMatch α1-アンチトリプシン欠損症 alpha 1-antitrypsin deficiency https://monarchinitiative.org/MONDO:0013282 NANDO:2200673 http://nanbyodata.jp/ontology/NANDO_2200673 先天性プロトロンビン欠乏症 Hypoprothrombinemia MONDO:0013361 http://www.w3.org/2004/02/skos/core#exactMatch 先天性プロトロンビン欠乏症 congenital prothrombin deficiency https://monarchinitiative.org/MONDO:0013361 NANDO:2200670 http://nanbyodata.jp/ontology/NANDO_2200670 コラーゲン受容体異常症 Abnormalities in platelet collagen receptors MONDO:0013623 http://www.w3.org/2004/02/skos/core#exactMatch 血小板型出血性疾患11 platelet-type bleeding disorder 11 https://monarchinitiative.org/MONDO:0013623 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch アデニンホスホリボシルトランスフェラーゼ欠損症 adenine phosphoribosyltransferase deficiency https://monarchinitiative.org/MONDO:0013869 NANDO:2200665 http://nanbyodata.jp/ontology/NANDO_2200665 αアクチニン1異常症 ACTN1 mutations MONDO:0014078 http://www.w3.org/2004/02/skos/core#exactMatch 血小板型出血性疾患15 platelet-type bleeding disorder 15 https://monarchinitiative.org/MONDO:0014078 NANDO:2200616 http://nanbyodata.jp/ontology/NANDO_2200616 鉄芽球性貧血 Sideroblastic anemia MONDO:0015194 http://www.w3.org/2004/02/skos/core#exactMatch 鉄芽球性貧血 sideroblastic anemia https://monarchinitiative.org/MONDO:0015194 NANDO:2200614 http://nanbyodata.jp/ontology/NANDO_2200614 先天性赤芽球癆 Congenital red cell aplasia MONDO:0015253 http://www.w3.org/2004/02/skos/core#exactMatch ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia https://monarchinitiative.org/MONDO:0015253 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 複合カルボキシラーゼ欠損症 multiple carboxylase deficiency https://monarchinitiative.org/MONDO:0015454 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ欠損症 hypoxanthine-guanine phosphoribosyltransferase deficiency https://monarchinitiative.org/MONDO:0016088 NANDO:2200571 http://nanbyodata.jp/ontology/NANDO_2200571 シスチン症 Cystinosis MONDO:0016239 http://www.w3.org/2004/02/skos/core#exactMatch シスチン症 cystinosis https://monarchinitiative.org/MONDO:0016239 NANDO:2200635 http://nanbyodata.jp/ontology/NANDO_2200635 ヘモグロビンC症 Hemoglobin C disease MONDO:0016242 http://www.w3.org/2004/02/skos/core#exactMatch ヘモグロビンC症 hemoglobin C disease https://monarchinitiative.org/MONDO:0016242 NANDO:2200573 http://nanbyodata.jp/ontology/NANDO_2200573 神経セロイドリポフスチン症 Neuronal ceroid lipofuscinoses 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 https://monarchinitiative.org/MONDO:0016295 NANDO:2200594 http://nanbyodata.jp/ontology/NANDO_2200594 ビオプテリン代謝異常症 Tetrahydrobiopterin deficiency 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 https://monarchinitiative.org/MONDO:0016543 NANDO:2200483 http://nanbyodata.jp/ontology/NANDO_2200483 シトリン欠損症 Citrin deficiency MONDO:0016602 http://www.w3.org/2004/02/skos/core#exactMatch シトリン欠損症 citrin deficiency https://monarchinitiative.org/MONDO:0016602 NANDO:2200630 http://nanbyodata.jp/ontology/NANDO_2200630 遺伝性楕円赤血球症 Hereditary elliptocytosis MONDO:0017319 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性楕円赤血球症 hereditary elliptocytosis https://monarchinitiative.org/MONDO:0017319 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ホスホエノールピルビン酸カルボキシキナーゼ欠損症 phosphoenolpyruvate carboxykinase deficiency https://monarchinitiative.org/MONDO:0017320 NANDO:2200496 http://nanbyodata.jp/ontology/NANDO_2200496 メチルグルタコン酸尿症 Methylglutaconic aciduria MONDO:0017359 http://www.w3.org/2004/02/skos/core#exactMatch 3-メチルグルタコン酸尿症 3-methylglutaconic aciduria https://monarchinitiative.org/MONDO:0017359 NANDO:2200559 http://nanbyodata.jp/ontology/NANDO_2200559 GM2ガングリオシドーシス GM2 gangliosidosis MONDO:0017720 http://www.w3.org/2004/02/skos/core#exactMatch GM2ガングリオシドーシス GM2 gangliosidosis https://monarchinitiative.org/MONDO:0017720 NANDO:2200556 http://nanbyodata.jp/ontology/NANDO_2200556 シアリドーシス Sialidosis MONDO:0017734 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス sialidosis https://monarchinitiative.org/MONDO:0017734 NANDO:2200605 http://nanbyodata.jp/ontology/NANDO_2200605 高比重リポタンパク欠乏症 HDL deficiency MONDO:0017773 http://www.w3.org/2004/02/skos/core#exactMatch 高比重リポタンパク欠乏症 hypoalphalipoproteinemia https://monarchinitiative.org/MONDO:0017773 NANDO:2200633 http://nanbyodata.jp/ontology/NANDO_2200633 Stomatocytic Xerocytosis Stomatocytic xerocytosis 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 https://monarchinitiative.org/MONDO:0017910 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://www.w3.org/2004/02/skos/core#exactMatch ヘパリン起因性血小板減少症 heparin-induced thrombocytopenia https://monarchinitiative.org/MONDO:0018048 NANDO:2200558 http://nanbyodata.jp/ontology/NANDO_2200558 GM1ガングリオシドーシス GM1 Gangliosidosis MONDO:0018149 http://www.w3.org/2004/02/skos/core#exactMatch GM1ガングリオシドーシス GM1 gangliosidosis https://monarchinitiative.org/MONDO:0018149 NANDO:2200562 http://nanbyodata.jp/ontology/NANDO_2200562 ゴーシェ病 Gaucher disease MONDO:0018150 http://www.w3.org/2004/02/skos/core#exactMatch ゴーシェ病 Gaucher disease https://monarchinitiative.org/MONDO:0018150 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://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリアDNA枯渇症候群 mitochondrial DNA depletion syndrome https://monarchinitiative.org/MONDO:0018158 NANDO:2200576 http://nanbyodata.jp/ontology/NANDO_2200576 副腎白質ジストロフィー Adrenoleukodystrophy MONDO:0018544 http://www.w3.org/2004/02/skos/core#exactMatch 副腎白質ジストロフィー adrenoleukodystrophy https://monarchinitiative.org/MONDO:0018544 NANDO:2200560 http://nanbyodata.jp/ontology/NANDO_2200560 異染性白質ジストロフィー Metachromatic leukodystrophy MONDO:0018868 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー metachromatic leukodystrophy https://monarchinitiative.org/MONDO:0018868 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 血栓性血小板減少性紫斑病 thrombotic thrombocytopenic purpura https://monarchinitiative.org/MONDO:0018896 NANDO:2200618 http://nanbyodata.jp/ontology/NANDO_2200618 寒冷凝集素症 Cold agglutinin disease MONDO:0018922 http://www.w3.org/2004/02/skos/core#exactMatch 寒冷凝集素症 cold agglutinin disease https://monarchinitiative.org/MONDO:0018922 NANDO:2200568 http://nanbyodata.jp/ontology/NANDO_2200568 ムコリピドーシスIII型 Mucolipidosis III MONDO:0018931 http://www.w3.org/2004/02/skos/core#exactMatch ムコリピドーシスIII型, α／β mucolipidosis type III, alpha/beta https://monarchinitiative.org/MONDO:0018931 NANDO:2200549 http://nanbyodata.jp/ontology/NANDO_2200549 ムコ多糖症III型 Mucopolysaccharidosis type III MONDO:0018937 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症3型 mucopolysaccharidosis type 3 https://monarchinitiative.org/MONDO:0018937 NANDO:2200550 http://nanbyodata.jp/ontology/NANDO_2200550 ムコ多糖症IV型 Mucopolysaccharidosis type IV MONDO:0018938 http://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症4型 mucopolysaccharidosis type 4 https://monarchinitiative.org/MONDO:0018938 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 3-メチルクロトニルCoAカルボキシラーゼ欠損症 3-methylcrotonyl-CoA carboxylase deficiency https://monarchinitiative.org/MONDO:0018950 NANDO:2200610 http://nanbyodata.jp/ontology/NANDO_2200610 先天性ポルフィリン症 Congenital porphyria MONDO:0019142 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ポルフィリン症 inherited porphyria https://monarchinitiative.org/MONDO:0019142 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ピルビン酸脱水素酵素欠損症 pyruvate dehydrogenase deficiency https://monarchinitiative.org/MONDO:0019169 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://www.w3.org/2004/02/skos/core#exactMatch 先天性胆汁酸合成障害 inborn disorder of bile acid synthesis https://monarchinitiative.org/MONDO:0019218 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ペルオキシソーム形成異常症 peroxisome biogenesis disorder https://monarchinitiative.org/MONDO:0019234 NANDO:2200622 http://nanbyodata.jp/ontology/NANDO_2200622 遺伝性球状赤血球症 Hereditary spherocytosis MONDO:0019350 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性球状赤血球症 hereditary spherocytosis https://monarchinitiative.org/MONDO:0019350 NANDO:2200572 http://nanbyodata.jp/ontology/NANDO_2200572 遊離シアル酸蓄積症 Free Sialic Acid Storage Disease MONDO:0019366 http://www.w3.org/2004/02/skos/core#exactMatch 遊離シアル酸蓄積症 free sialic acid storage disease https://monarchinitiative.org/MONDO:0019366 NANDO:2200652 http://nanbyodata.jp/ontology/NANDO_2200652 ファンコニ貧血 Fanconi anemia MONDO:0019391 http://www.w3.org/2004/02/skos/core#exactMatch ファンコーニ貧血 Fanconi anemia https://monarchinitiative.org/MONDO:0019391 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://www.w3.org/2004/02/skos/core#exactMatch 先天性赤血球形成異常性貧血 congenital dyserythropoietic anemia https://monarchinitiative.org/MONDO:0019403 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 胎児・新生児同種免疫性血小板減少症 fetal and neonatal alloimmune thrombocytopenia https://monarchinitiative.org/MONDO:0019415 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome https://monarchinitiative.org/MONDO:0009833 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch α2プラスミンインヒビター欠損症 alpha-2-plasmin inhibitor deficiency https://monarchinitiative.org/MONDO:0009883 NANDO:2200695 http://nanbyodata.jp/ontology/NANDO_2200695 細網異形成症 Reticular dysgenesis MONDO:0009973 http://www.w3.org/2004/02/skos/core#exactMatch 細網異形成症 reticular dysgenesis https://monarchinitiative.org/MONDO:0009973 NANDO:2200818 http://nanbyodata.jp/ontology/NANDO_2200818 裂脳症 Schizencephaly MONDO:0010011 http://www.w3.org/2004/02/skos/core#exactMatch 裂脳症 schizencephaly https://monarchinitiative.org/MONDO:0010011 NANDO:2200700 http://nanbyodata.jp/ontology/NANDO_2200700 ZAP-70欠損症 ZAP-70 deficiency MONDO:0010023 http://www.w3.org/2004/02/skos/core#exactMatch ZAP70欠損による複合免疫不全症 combined immunodeficiency due to ZAP70 deficiency https://monarchinitiative.org/MONDO:0010023 NANDO:2200775 http://nanbyodata.jp/ontology/NANDO_2200775 孤立性先天性無脾症 Isolated congenital asplenia MONDO:0010066 http://www.w3.org/2004/02/skos/core#exactMatch 家族性孤立性先天性無脾症 familial isolated congenital asplenia https://monarchinitiative.org/MONDO:0010066 NANDO:2200831 http://nanbyodata.jp/ontology/NANDO_2200831 ウェルナー症候群 Werner syndrome MONDO:0010196 http://www.w3.org/2004/02/skos/core#exactMatch ウェルナー症候群 Werner syndrome https://monarchinitiative.org/MONDO:0010196 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 外胚葉形成不全および免疫不全症 ectodermal dysplasia and immune deficiency https://monarchinitiative.org/MONDO:0010293 NANDO:2200753 http://nanbyodata.jp/ontology/NANDO_2200753 X連鎖好中球減少症 X linked severe congenital neutropenia MONDO:0010294 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性重症先天性好中球減少症 X-linked severe congenital neutropenia https://monarchinitiative.org/MONDO:0010294 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch γ鎖欠損によるT-B+重症複合免疫不全症 T-B+ severe combined immunodeficiency due to gamma chain deficiency https://monarchinitiative.org/MONDO:0010315 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ブルトン型無ガンマグロブリン血症 Bruton-type agammaglobulinemia https://monarchinitiative.org/MONDO:0010421 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ウィスコット・オルドリッチ症候群 Wiskott-Aldrich syndrome https://monarchinitiative.org/MONDO:0010518 NANDO:2200751 http://nanbyodata.jp/ontology/NANDO_2200751 Barth症候群 Barth syndrome MONDO:0010543 http://www.w3.org/2004/02/skos/core#exactMatch バース症候群 Barth syndrome https://monarchinitiative.org/MONDO:0010543 NANDO:2200677 http://nanbyodata.jp/ontology/NANDO_2200677 血友病Ｂ Hemophilia B MONDO:0010604 http://www.w3.org/2004/02/skos/core#exactMatch 血友病B hemophilia B https://monarchinitiative.org/MONDO:0010604 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://www.w3.org/2004/02/skos/core#exactMatch X連鎖リンパ増殖症候群 X-linked lymphoproliferative syndrome https://monarchinitiative.org/MONDO:0010627 NANDO:2200789 http://nanbyodata.jp/ontology/NANDO_2200789 Properdin 欠損症 Properdin deficiency MONDO:0010713 http://www.w3.org/2004/02/skos/core#exactMatch プロペルジン欠損症, X連鎖性 properdin deficiency, X-linked https://monarchinitiative.org/MONDO:0010713 NANDO:2200825 http://nanbyodata.jp/ontology/NANDO_2200825 レット症候群 Rett syndrome MONDO:0010726 http://www.w3.org/2004/02/skos/core#exactMatch レット症候群 Rett syndrome https://monarchinitiative.org/MONDO:0010726 NANDO:2200823 http://nanbyodata.jp/ontology/NANDO_2200823 巨脳症－毛細血管奇形症候群 Megalencephaly-capillary malformation syndrome 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 https://monarchinitiative.org/MONDO:0011240 NANDO:2200730 http://nanbyodata.jp/ontology/NANDO_2200730 Syntaxin11欠損症 Syntaxin 11 deficiency MONDO:0011336 http://www.w3.org/2004/02/skos/core#exactMatch 家族性血球貪食性リンパ組織球症4 familial hemophagocytic lymphohistiocytosis 4 https://monarchinitiative.org/MONDO:0011336 NANDO:2200728 http://nanbyodata.jp/ontology/NANDO_2200728 パーフォリン欠損症 Perforin deficiency MONDO:0011337 http://www.w3.org/2004/02/skos/core#exactMatch 家族性血球貪食性リンパ組織球症2 familial hemophagocytic lymphohistiocytosis 2 https://monarchinitiative.org/MONDO:0011337 NANDO:2200697 http://nanbyodata.jp/ontology/NANDO_2200697 オーメン症候群 Omenn syndrome MONDO:0011338 http://www.w3.org/2004/02/skos/core#exactMatch オーメン症候群 Omenn syndrome https://monarchinitiative.org/MONDO:0011338 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 好中球減少症を伴う多形皮膚萎縮症 poikiloderma with neutropenia https://monarchinitiative.org/MONDO:0011405 NANDO:2200701 http://nanbyodata.jp/ontology/NANDO_2200701 MHCクラスI欠損症 MHC class I deficiency MONDO:0011476 http://www.w3.org/2004/02/skos/core#exactMatch MHCクラスI欠損症 MHC class I deficiency https://monarchinitiative.org/MONDO:0011476 NANDO:2200736 http://nanbyodata.jp/ontology/NANDO_2200736 CD25欠損症 Immunodeficiency 41 with lymphoproliferation and autoimmunity MONDO:0011664 http://www.w3.org/2004/02/skos/core#exactMatch CD25欠損による免疫不全症 immunodeficiency due to CD25 deficiency https://monarchinitiative.org/MONDO:0011664 NANDO:2200740 http://nanbyodata.jp/ontology/NANDO_2200740 カスペース8欠損症 Caspase-8 deficiency MONDO:0011804 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性リンパ増殖症候群2B型 autoimmune lymphoproliferative syndrome type 2B https://monarchinitiative.org/MONDO:0011804 NANDO:2200732 http://nanbyodata.jp/ontology/NANDO_2200732 Griscelli症候群2型 Griscelli syndrome type 2 MONDO:0011872 http://www.w3.org/2004/02/skos/core#exactMatch グリセリ症候群2型 Griscelli syndrome type 2 https://monarchinitiative.org/MONDO:0011872 NANDO:2200762 http://nanbyodata.jp/ontology/NANDO_2200762 IRAK4欠損症 IRAK4 deficiency MONDO:0011888 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症67 immunodeficiency 67 https://monarchinitiative.org/MONDO:0011888 NANDO:2200744 http://nanbyodata.jp/ontology/NANDO_2200744 SPENCDI Spondylo enchondro-dysplasiawith immune dysregulation 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 https://monarchinitiative.org/MONDO:0011939 NANDO:2200733 http://nanbyodata.jp/ontology/NANDO_2200733 Hermansky-Pudlak症候群2型 Hermansky-Pudlak syndrome type 2 MONDO:0011997 http://www.w3.org/2004/02/skos/core#exactMatch ヘルマンスキー・パドラック症候群2 Hermansky-Pudlak syndrome 2 https://monarchinitiative.org/MONDO:0011997 NANDO:2200729 http://nanbyodata.jp/ontology/NANDO_2200729 UNC13D/Munc13-4欠損症 UNC13D/Munc13-4 deficiency MONDO:0012146 http://www.w3.org/2004/02/skos/core#exactMatch 家族性血球貪食性リンパ組織球症3 familial hemophagocytic lymphohistiocytosis 3 https://monarchinitiative.org/MONDO:0012146 NANDO:2200699 http://nanbyodata.jp/ontology/NANDO_2200699 CD8欠損症 CD8 deficiency MONDO:0012161 http://www.w3.org/2004/02/skos/core#exactMatch CD8α鎖変異に関連する呼吸器感染に対する感受性 susceptibility to respiratory infections associated with CD8alpha chain mutation https://monarchinitiative.org/MONDO:0012161 NANDO:2200809 http://nanbyodata.jp/ontology/NANDO_2200809 後天性免疫不全症候群 Acquired immune deficiency syndrome MONDO:0012268 http://www.w3.org/2004/02/skos/core#exactMatch AIDS AIDS https://monarchinitiative.org/MONDO:0012268 NANDO:2200783 http://nanbyodata.jp/ontology/NANDO_2200783 C5 欠損症 C5 deficiency MONDO:0012295 http://www.w3.org/2004/02/skos/core#exactMatch 補体第5成分欠損症 complement component 5 deficiency https://monarchinitiative.org/MONDO:0012295 NANDO:2200791 http://nanbyodata.jp/ontology/NANDO_2200791 Factor H 欠損症 Factor H deficiency MONDO:0012350 http://www.w3.org/2004/02/skos/core#exactMatch H因子欠損症 complement factor H deficiency https://monarchinitiative.org/MONDO:0012350 NANDO:2200771 http://nanbyodata.jp/ontology/NANDO_2200771 MCM4遺伝子異常症 MCM4 mutation 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 https://monarchinitiative.org/MONDO:0012383 NANDO:2200785 http://nanbyodata.jp/ontology/NANDO_2200785 C7 欠損症 C7 deficiency MONDO:0012412 http://www.w3.org/2004/02/skos/core#exactMatch 補体第7成分欠損症 complement component 7 deficiency https://monarchinitiative.org/MONDO:0012412 NANDO:2200772 http://nanbyodata.jp/ontology/NANDO_2200772 単純ヘルペス脳炎 Herpes simplex encephalitis MONDO:0012521 http://www.w3.org/2004/02/skos/core#exactMatch 単純ヘルペス脳炎 herpes simplex encephalitis https://monarchinitiative.org/MONDO:0012521 NANDO:2200752 http://nanbyodata.jp/ontology/NANDO_2200752 P14欠損症 P14 deficiency MONDO:0012559 http://www.w3.org/2004/02/skos/core#exactMatch p14欠損による原発性免疫不全症候群 primary immunodeficiency syndrome due to p14 deficiency https://monarchinitiative.org/MONDO:0012559 NANDO:2200790 http://nanbyodata.jp/ontology/NANDO_2200790 Factor I 欠損症 Factor In deficiency MONDO:0012594 http://www.w3.org/2004/02/skos/core#exactMatch I因子欠損症 complement factor I deficiency https://monarchinitiative.org/MONDO:0012594 NANDO:2200710 http://nanbyodata.jp/ontology/NANDO_2200710 RIDDLE症候群 RIDDLE syndrome MONDO:0012764 http://www.w3.org/2004/02/skos/core#exactMatch RIDDLE症候群 RIDDLE syndrome https://monarchinitiative.org/MONDO:0012764 NANDO:2200763 http://nanbyodata.jp/ontology/NANDO_2200763 MyD88欠損症 MyD88 deficiency MONDO:0012839 http://www.w3.org/2004/02/skos/core#exactMatch MYD88欠損による化膿性細菌感染症 pyogenic bacterial infections due to MyD88 deficiency https://monarchinitiative.org/MONDO:0012839 NANDO:2200804 http://nanbyodata.jp/ontology/NANDO_2200804 CD59欠損症 Primary CD59 deficiency MONDO:0012858 http://www.w3.org/2004/02/skos/core#exactMatch 原発性CD59欠損症 primary CD59 deficiency https://monarchinitiative.org/MONDO:0012858 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://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 https://monarchinitiative.org/MONDO:0012901 NANDO:2200784 http://nanbyodata.jp/ontology/NANDO_2200784 C6 欠損症 C6 deficiency MONDO:0012908 http://www.w3.org/2004/02/skos/core#exactMatch 補体第6成分欠損症 complement component 6 deficiency https://monarchinitiative.org/MONDO:0012908 NANDO:2200803 http://nanbyodata.jp/ontology/NANDO_2200803 CD46欠損症 CD46 deficiency MONDO:0013040 http://www.w3.org/2004/02/skos/core#exactMatch MCP/CD46異常を伴う非典型溶血性尿毒症症候群 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly https://monarchinitiative.org/MONDO:0013040 NANDO:2200734 http://nanbyodata.jp/ontology/NANDO_2200734 ITK欠損症 IL-2-inducible T-cell kinase deficiency MONDO:0013081 http://www.w3.org/2004/02/skos/core#exactMatch リンパ増殖性症候群1 lymphoproliferative syndrome 1 https://monarchinitiative.org/MONDO:0013081 NANDO:2200731 http://nanbyodata.jp/ontology/NANDO_2200731 STXBP2/Munc18-2欠損症 STXBP2/Munc18-2 deficiency MONDO:0013135 http://www.w3.org/2004/02/skos/core#exactMatch 家族性血球貪食性リンパ組織球症5 familial hemophagocytic lymphohistiocytosis 5 https://monarchinitiative.org/MONDO:0013135 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch プリンヌクレオシドホスホリラーゼ欠損症 purine nucleoside phosphorylase deficiency https://monarchinitiative.org/MONDO:0013171 NANDO:2200688 http://nanbyodata.jp/ontology/NANDO_2200688 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://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 https://monarchinitiative.org/MONDO:0013227 NANDO:2200739 http://nanbyodata.jp/ontology/NANDO_2200739 ITCH欠損症 Syndromic multisystem autoimmune disease due to Itch deficiency 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 https://monarchinitiative.org/MONDO:0013245 NANDO:2200777 http://nanbyodata.jp/ontology/NANDO_2200777 C1q 欠損症 C1q deficiency MONDO:0013343 http://www.w3.org/2004/02/skos/core#exactMatch C1q欠損症 C1Q deficiency https://monarchinitiative.org/MONDO:0013343 NANDO:2200741 http://nanbyodata.jp/ontology/NANDO_2200741 FADD欠損症 Fas-associated death domain protein deficiency MONDO:0013408 http://www.w3.org/2004/02/skos/core#exactMatch FADD関連免疫不全症 FADD-related immunodeficiency https://monarchinitiative.org/MONDO:0013408 NANDO:2200782 http://nanbyodata.jp/ontology/NANDO_2200782 C3 欠損症 C3 deficiency MONDO:0013417 http://www.w3.org/2004/02/skos/core#exactMatch 補体第3成分欠損症 complement component 3 deficiency https://monarchinitiative.org/MONDO:0013417 NANDO:2200779 http://nanbyodata.jp/ontology/NANDO_2200779 C1s 欠損症 C1s deficiency MONDO:0013419 http://www.w3.org/2004/02/skos/core#exactMatch 補体成分C1s欠損症 complement component C1s deficiency https://monarchinitiative.org/MONDO:0013419 NANDO:2200793 http://nanbyodata.jp/ontology/NANDO_2200793 MASP2 欠損症 MASP2 deficiency MONDO:0013423 http://www.w3.org/2004/02/skos/core#exactMatch MASP2欠損による免疫不全症 immunodeficiency due to MASP-2 deficiency https://monarchinitiative.org/MONDO:0013423 NANDO:2200787 http://nanbyodata.jp/ontology/NANDO_2200787 C9 欠損症 C9 deficiency MONDO:0013445 http://www.w3.org/2004/02/skos/core#exactMatch 補体第9成分欠損症 complement component 9 deficiency https://monarchinitiative.org/MONDO:0013445 NANDO:2200794 http://nanbyodata.jp/ontology/NANDO_2200794 Ficolin3 関連免疫不全症 Ficolin 3 Deficiency 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 https://monarchinitiative.org/MONDO:0013467 NANDO:2200788 http://nanbyodata.jp/ontology/NANDO_2200788 Factor D 欠損症 Factor D deficiency 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 https://monarchinitiative.org/MONDO:0013487 NANDO:2200719 http://nanbyodata.jp/ontology/NANDO_2200719 IgGサブクラス欠損症 Isolated IgG subclass deficiency 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 https://monarchinitiative.org/MONDO:0013576 NANDO:2200801 http://nanbyodata.jp/ontology/NANDO_2200801 CR2欠損症 CD21 deficiency MONDO:0013862 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症, 分類不能型, 7 immunodeficiency, common variable, 7 https://monarchinitiative.org/MONDO:0013862 NANDO:2200797 http://nanbyodata.jp/ontology/NANDO_2200797 B因子欠損症 Factor B deficiency MONDO:0014255 http://www.w3.org/2004/02/skos/core#exactMatch B因子欠損症 complement factor b deficiency https://monarchinitiative.org/MONDO:0014255 NANDO:2200766 http://nanbyodata.jp/ontology/NANDO_2200766 HOIL1欠損症 HOIL-1 deficiency MONDO:0014389 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全を伴うまたは伴わないポリグルコサン小体ミオパチー1 polyglucosan body myopathy 1 with or without immunodeficiency https://monarchinitiative.org/MONDO:0014389 NANDO:2200770 http://nanbyodata.jp/ontology/NANDO_2200770 STAT2欠損症 STAT2 deficiency MONDO:0014715 http://www.w3.org/2004/02/skos/core#exactMatch 麻疹・ムンプス・風疹ワクチン後ウイルス感染を伴う原発性免疫不全症 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection https://monarchinitiative.org/MONDO:0014715 NANDO:2200764 http://nanbyodata.jp/ontology/NANDO_2200764 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 http://www.w3.org/2004/02/skos/core#exactMatch 慢性皮膚粘膜カンジダ症 chronic mucocutaneous candidiasis https://monarchinitiative.org/MONDO:0015279 NANDO: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://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 https://monarchinitiative.org/MONDO:0015369 NANDO:2200717 http://nanbyodata.jp/ontology/NANDO_2200717 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 http://www.w3.org/2004/02/skos/core#exactMatch 分類不能型免疫不全症 common variable immunodeficiency https://monarchinitiative.org/MONDO:0015517 NANDO:2200806 http://nanbyodata.jp/ontology/NANDO_2200806 特発性好酸球増加症 Hypereosinophilic syndrome MONDO:0015691 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球増加症候群 hypereosinophilic syndrome https://monarchinitiative.org/MONDO:0015691 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://www.w3.org/2004/02/skos/core#exactMatch 乳児一過性低ガンマグロブリン血症 transient hypogammaglobulinemia of infancy https://monarchinitiative.org/MONDO:0015698 NANDO:2200715 http://nanbyodata.jp/ontology/NANDO_2200715 先天性角化異常症 Dyskeratosis congenita MONDO:0015780 http://www.w3.org/2004/02/skos/core#exactMatch 先天性角化異常症 dyskeratosis congenita https://monarchinitiative.org/MONDO:0015780 NANDO:2200693 http://nanbyodata.jp/ontology/NANDO_2200693 再生不良性貧血 Aplastic anemia MONDO:0015909 http://www.w3.org/2004/02/skos/core#exactMatch 再生不良性貧血 aplastic anemia https://monarchinitiative.org/MONDO:0015909 NANDO:2200832 http://nanbyodata.jp/ontology/NANDO_2200832 コケイン症候群 Cockayne syndrome MONDO:0016006 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群 Cockayne syndrome https://monarchinitiative.org/MONDO:0016006 NANDO:2200819 http://nanbyodata.jp/ontology/NANDO_2200819 全前脳胞症 Holoprosencephaly MONDO:0016296 http://www.w3.org/2004/02/skos/core#exactMatch 全前脳症 holoprosencephaly https://monarchinitiative.org/MONDO:0016296 NANDO:2200822 http://nanbyodata.jp/ontology/NANDO_2200822 先天性水頭症 Congenital hydrocephalus MONDO:0016349 http://www.w3.org/2004/02/skos/core#exactMatch 先天性水頭症 congenital hydrocephalus https://monarchinitiative.org/MONDO:0016349 NANDO:2200813 http://nanbyodata.jp/ontology/NANDO_2200813 髄膜脳瘤 Meningoencephalocele MONDO:0017079 http://www.w3.org/2004/02/skos/core#exactMatch 髄膜脳瘤 meningoencephalocele https://monarchinitiative.org/MONDO:0017079 NANDO:2200792 http://nanbyodata.jp/ontology/NANDO_2200792 3MC 症候群 Malpuech-Michels-Mingarelli-Carnevale syndrome MONDO:0017398 http://www.w3.org/2004/02/skos/core#exactMatch 3MC症候群 3MC syndrome https://monarchinitiative.org/MONDO:0017398 NANDO:2200755 http://nanbyodata.jp/ontology/NANDO_2200755 白血球接着不全症 Leukocyte adhesion deficiency MONDO:0017570 http://www.w3.org/2004/02/skos/core#exactMatch 白血球接着不全症 leukocyte adhesion deficiency https://monarchinitiative.org/MONDO:0017570 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性リンパ増殖症候群 autoimmune lymphoproliferative syndrome https://monarchinitiative.org/MONDO:0017979 NANDO:2200713 http://nanbyodata.jp/ontology/NANDO_2200713 高IgE症候群 Hyper-IgE syndrome MONDO:0018037 http://www.w3.org/2004/02/skos/core#exactMatch 高IgE症候群 hyper-IgE syndrome https://monarchinitiative.org/MONDO:0018037 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 第VおよびVIII因子複合欠乏症 combined deficiency of factor V and factor VIII https://monarchinitiative.org/MONDO:0018175 NANDO:2200757 http://nanbyodata.jp/ontology/NANDO_2200757 慢性肉芽腫症 Chronic granulomatous disease MONDO:0018305 http://www.w3.org/2004/02/skos/core#exactMatch 慢性肉芽腫症 chronic granulomatous disease https://monarchinitiative.org/MONDO:0018305 NANDO:2200807 http://nanbyodata.jp/ontology/NANDO_2200807 好酸球性消化管疾患 Eosinophilic gastrointestinal disorders MONDO:0018438 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性消化管疾患 eosinophilic gastrointestinal disease https://monarchinitiative.org/MONDO:0018438 NANDO:2200745 http://nanbyodata.jp/ontology/NANDO_2200745 重症先天性好中球減少症 Severe congenital neutropenia MONDO:0018542 http://www.w3.org/2004/02/skos/core#exactMatch 重症先天性好中球減少症 severe congenital neutropenia https://monarchinitiative.org/MONDO:0018542 NANDO:2200817 http://nanbyodata.jp/ontology/NANDO_2200817 滑脳症 Lissencephaly MONDO:0018838 http://www.w3.org/2004/02/skos/core#exactMatch 滑脳症スペクトラム障害 lissencephaly spectrum disorders https://monarchinitiative.org/MONDO:0018838 NANDO: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://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 https://monarchinitiative.org/MONDO:0019145 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://www.w3.org/2004/02/skos/core#exactMatch メンデル遺伝型マイコバクテリア易感染症 inherited susceptibility to mycobacterial diseases https://monarchinitiative.org/MONDO:0019146 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ウンフェルリヒト・ルントボルグ病 Unverricht-Lundborg syndrome https://monarchinitiative.org/MONDO:0009698 NANDO:2200868 http://nanbyodata.jp/ontology/NANDO_2200868 先天性筋線維不均等症 Congenital fiber-type disproportion myopathy MONDO:0009711 http://www.w3.org/2004/02/skos/core#exactMatch 先天性筋線維不均等症 congenital fiber-type disproportion myopathy https://monarchinitiative.org/MONDO:0009711 NANDO:2200872 http://nanbyodata.jp/ontology/NANDO_2200872 ミニコア病 Minicore myopathy MONDO:0009712 http://www.w3.org/2004/02/skos/core#exactMatch 外眼筋麻痺を伴う先天性多発コアミオパチー congenital multicore myopathy with external ophthalmoplegia https://monarchinitiative.org/MONDO:0009712 NANDO:2200876 http://nanbyodata.jp/ontology/NANDO_2200876 シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome MONDO:0009717 http://www.w3.org/2004/02/skos/core#exactMatch シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome https://monarchinitiative.org/MONDO:0009717 NANDO:2200854 http://nanbyodata.jp/ontology/NANDO_2200854 先天性無痛無汗症 Congenital insensitivity to pain with anhidrosis 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 https://monarchinitiative.org/MONDO:0009746 NANDO:2200951 http://nanbyodata.jp/ontology/NANDO_2200951 総排泄腔外反症 Cloacal exstrophy MONDO:0009774 http://www.w3.org/2004/02/skos/core#exactMatch 総排泄腔外反症 cloacal exstrophy https://monarchinitiative.org/MONDO:0009774 NANDO:2200899 http://nanbyodata.jp/ontology/NANDO_2200899 亜急性硬化性全脳炎 Subacute sclerosing panencephalitis MONDO:0009835 http://www.w3.org/2004/02/skos/core#exactMatch 亜急性硬化性全脳炎 subacute sclerosing panencephalitis https://monarchinitiative.org/MONDO:0009835 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch スミス・レムリ・オピッツ症候群 Smith-Lemli-Opitz syndrome https://monarchinitiative.org/MONDO:0010035 NANDO:2200834 http://nanbyodata.jp/ontology/NANDO_2200834 カナバン病 Canavan disease MONDO:0010079 http://www.w3.org/2004/02/skos/core#exactMatch カドミウム中毒 Canavan disease https://monarchinitiative.org/MONDO:0010079 NANDO:2200957 http://nanbyodata.jp/ontology/NANDO_2200957 ウィーバー症候群 Weaver syndrome MONDO:0010193 http://www.w3.org/2004/02/skos/core#exactMatch ウィーバー症候群 Weaver syndrome https://monarchinitiative.org/MONDO:0010193 NANDO:2200984 http://nanbyodata.jp/ontology/NANDO_2200984 MECP2重複症候群 MECP2 duplication syndrome MONDO:0010283 http://www.w3.org/2004/02/skos/core#exactMatch 症候性X連鎖性知的障害Lubs型 syndromic X-linked intellectual disability Lubs type https://monarchinitiative.org/MONDO:0010283 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ベッカー型筋ジストロフィー Becker muscular dystrophy https://monarchinitiative.org/MONDO:0010311 NANDO:2200840 http://nanbyodata.jp/ontology/NANDO_2200840 脆弱Ｘ症候群 Fragile X syndrome MONDO:0010383 http://www.w3.org/2004/02/skos/core#exactMatch 脆弱X症候群 fragile X syndrome https://monarchinitiative.org/MONDO:0010383 NANDO:2200839 http://nanbyodata.jp/ontology/NANDO_2200839 ATR-X症候群 ATR-X syndrome 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 https://monarchinitiative.org/MONDO:0010519 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://www.w3.org/2004/02/skos/core#exactMatch コフィン・ローリー症候群 Coffin-Lowry syndrome https://monarchinitiative.org/MONDO:0010561 NANDO:2200924 http://nanbyodata.jp/ontology/NANDO_2200924 IPEX症候群 IPEX syndrome 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 https://monarchinitiative.org/MONDO:0010580 NANDO:2200974 http://nanbyodata.jp/ontology/NANDO_2200974 色素失調症 Incontinentia pigmenti MONDO:0010631 http://www.w3.org/2004/02/skos/core#exactMatch 色素失調症 incontinentia pigmenti https://monarchinitiative.org/MONDO:0010631 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://www.w3.org/2004/02/skos/core#exactMatch デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy https://monarchinitiative.org/MONDO:0010679 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch シンプソン・ゴラビ・ベーメル症候群 Simpson-Golabi-Behmel syndrome https://monarchinitiative.org/MONDO:0010731 NANDO:2200919 http://nanbyodata.jp/ontology/NANDO_2200919 周期性嘔吐症候群 Cyclic vomiting syndrome MONDO:0010778 http://www.w3.org/2004/02/skos/core#exactMatch 周期性嘔吐症候群 cyclic vomiting syndrome https://monarchinitiative.org/MONDO:0010778 NANDO:2200982 http://nanbyodata.jp/ontology/NANDO_2200982 ヤング・シンプソン症候群 Young-Simpson syndrome 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 https://monarchinitiative.org/MONDO:0011365 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://www.w3.org/2004/02/skos/core#exactMatch 皮質下嚢胞を伴う巨脳性白質脳症 megalencephalic leukoencephalopathy with subcortical cysts https://monarchinitiative.org/MONDO:0011391 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch グルコース・ガラクトース吸収不良症 glucose-galactose malabsorption https://monarchinitiative.org/MONDO:0011731 NANDO: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://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 https://monarchinitiative.org/MONDO:0011925 NANDO:2200894 http://nanbyodata.jp/ontology/NANDO_2200894 RNASEH2B欠損症 Aicardi-Goutieres syndrome 2 MONDO:0012429 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群2 Aicardi-Goutieres syndrome 2 https://monarchinitiative.org/MONDO:0012429 NANDO:2200895 http://nanbyodata.jp/ontology/NANDO_2200895 RNASEH2C欠損症 Aicardi-Goutieres syndrome 3 MONDO:0012471 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群3 Aicardi-Goutieres syndrome 3 https://monarchinitiative.org/MONDO:0012471 NANDO:2200897 http://nanbyodata.jp/ontology/NANDO_2200897 SAMHD1欠損症 Aicardi-Goutieres syndrome 5 MONDO:0013059 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群5 Aicardi-Goutieres syndrome 5 https://monarchinitiative.org/MONDO:0013059 NANDO:2200866 http://nanbyodata.jp/ontology/NANDO_2200866 LMNA遺伝子変異型筋ジストロフィー LMNA-related congenital muscular dystrophy MONDO:0013178 http://www.w3.org/2004/02/skos/core#exactMatch LMNA遺伝子変異による先天性筋ジストロフィー congenital muscular dystrophy due to LMNA mutation https://monarchinitiative.org/MONDO:0013178 NANDO:2200929 http://nanbyodata.jp/ontology/NANDO_2200929 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0013433 http://www.w3.org/2004/02/skos/core#exactMatch 原発性硬化性胆管炎 primary sclerosing cholangitis https://monarchinitiative.org/MONDO:0013433 NANDO:2200912 http://nanbyodata.jp/ontology/NANDO_2200912 リパーゼ欠損症 Lipase deficiency 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 https://monarchinitiative.org/MONDO:0013700 NANDO:2200898 http://nanbyodata.jp/ontology/NANDO_2200898 ADAR1欠損症 Aicardi-Goutieres syndrome 6 MONDO:0014007 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群6 Aicardi-Goutieres syndrome 6 https://monarchinitiative.org/MONDO:0014007 NANDO:2200985 http://nanbyodata.jp/ontology/NANDO_2200985 武内・小崎症候群 Takenouchi-Kosaki syndrome MONDO:0014757 http://www.w3.org/2004/02/skos/core#exactMatch 巨大血小板性血小板減少症-リンパ浮腫-発達遅滞-顔面異形-屈指症候群 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome https://monarchinitiative.org/MONDO:0014757 NANDO:2200911 http://nanbyodata.jp/ontology/NANDO_2200911 アミラーゼ欠損症 Amylase deficiency 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 https://monarchinitiative.org/MONDO:0015169 NANDO:2200943 http://nanbyodata.jp/ontology/NANDO_2200943 自己免疫性膵炎 Autoimmune pancreatitis MONDO:0015175 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性膵炎 autoimmune pancreatitis https://monarchinitiative.org/MONDO:0015175 NANDO:2200944 http://nanbyodata.jp/ontology/NANDO_2200944 短腸症 Short bowel syndrome MONDO:0015183 http://www.w3.org/2004/02/skos/core#exactMatch 短腸症 short bowel syndrome https://monarchinitiative.org/MONDO:0015183 NANDO:2200967 http://nanbyodata.jp/ontology/NANDO_2200967 CFC症候群 CFC Syndrome MONDO:0015280 http://www.w3.org/2004/02/skos/core#exactMatch 心顔面皮膚症候群 cardiofaciocutaneous syndrome https://monarchinitiative.org/MONDO:0015280 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 孤立性頭蓋骨縫合早期癒合症 isolated craniosynostosis https://monarchinitiative.org/MONDO:0015337 NANDO: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:0015358 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性運動感覚性ニューロパチー hereditary motor and sensory neuropathy https://monarchinitiative.org/MONDO:0015358 NANDO:2200977 http://nanbyodata.jp/ontology/NANDO_2200977 コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 http://www.w3.org/2004/02/skos/core#exactMatch コフィン・シリス症候群 Coffin-Siris syndrome https://monarchinitiative.org/MONDO:0015452 NANDO:2200888 http://nanbyodata.jp/ontology/NANDO_2200888 乳児両側線条体壊死 Infantile bilateral striatal necrosis 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 https://monarchinitiative.org/MONDO:0015518 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://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 https://monarchinitiative.org/MONDO:0015584 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://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞 progressive familial intrahepatic cholestasis https://monarchinitiative.org/MONDO:0015762 NANDO:2200900 http://nanbyodata.jp/ontology/NANDO_2200900 ラスムッセン脳炎 Rasmussen's encephalitis 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 https://monarchinitiative.org/MONDO:0016019 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://www.w3.org/2004/02/skos/core#exactMatch コルネリアデランゲ症候群 Cornelia de Lange syndrome https://monarchinitiative.org/MONDO:0016033 NANDO:2200918 http://nanbyodata.jp/ontology/NANDO_2200918 カウデン症候群 Cowden syndrome MONDO:0016063 http://www.w3.org/2004/02/skos/core#exactMatch カウデン病 Cowden disease https://monarchinitiative.org/MONDO:0016063 NANDO:2200864 http://nanbyodata.jp/ontology/NANDO_2200864 筋強直性ジストロフィー Myotonic dystrophy MONDO:0016107 http://www.w3.org/2004/02/skos/core#exactMatch 筋強直性ジストロフィー myotonic dystrophy https://monarchinitiative.org/MONDO:0016107 NANDO:2200883 http://nanbyodata.jp/ontology/NANDO_2200883 小児交互性片麻痺 Alternating hemiplegia of childhood MONDO:0016241 http://www.w3.org/2004/02/skos/core#exactMatch 小児交互性片麻痺 alternating hemiplegia of childhood https://monarchinitiative.org/MONDO:0016241 NANDO:2200928 http://nanbyodata.jp/ontology/NANDO_2200928 自己免疫性肝炎 Autoimmune hepatitis MONDO:0016264 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性肝炎 autoimmune hepatitis https://monarchinitiative.org/MONDO:0016264 NANDO:2200956 http://nanbyodata.jp/ontology/NANDO_2200956 歌舞伎症候群 Kabuki syndrome MONDO:0016512 http://www.w3.org/2004/02/skos/core#exactMatch 歌舞伎症候群 Kabuki syndrome https://monarchinitiative.org/MONDO:0016512 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch レノックス・ガストー症候群 Lennox-Gastaut syndrome https://monarchinitiative.org/MONDO:0016532 NANDO:2200885 http://nanbyodata.jp/ontology/NANDO_2200885 瀬川病 Segawa syndrome MONDO:0016812 http://www.w3.org/2004/02/skos/core#exactMatch ドーパ反応性ジストニア dopa-responsive dystonia https://monarchinitiative.org/MONDO:0016812 NANDO:2200850 http://nanbyodata.jp/ontology/NANDO_2200850 もやもや病 Moyamoya disease MONDO:0016820 http://www.w3.org/2004/02/skos/core#exactMatch もやもや病 Moyamoya disease https://monarchinitiative.org/MONDO:0016820 NANDO:2200857 http://nanbyodata.jp/ontology/NANDO_2200857 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://www.w3.org/2004/02/skos/core#exactMatch エメリー・ドレイフス型筋ジストロフィー Emery-Dreifuss muscular dystrophy https://monarchinitiative.org/MONDO:0016830 NANDO:2200858 http://nanbyodata.jp/ontology/NANDO_2200858 肢帯型筋ジストロフィー Limb-girdle muscular dystrophy MONDO:0016971 http://www.w3.org/2004/02/skos/core#exactMatch 肢帯型筋ジストロフィー limb-girdle muscular dystrophy https://monarchinitiative.org/MONDO:0016971 NANDO:2200987 http://nanbyodata.jp/ontology/NANDO_2200987 ケラチン症性魚鱗癬 Keratinopathic ichthyosis MONDO:0017266 http://www.w3.org/2004/02/skos/core#exactMatch ケラチン症性魚鱗癬 keratinopathic ichthyosis https://monarchinitiative.org/MONDO:0017266 NANDO:2200890 http://nanbyodata.jp/ontology/NANDO_2200890 先天性風疹症候群 Congenital rubella syndrome MONDO:0017361 http://www.w3.org/2004/02/skos/core#exactMatch 先天性風疹症候群 congenital rubella syndrome https://monarchinitiative.org/MONDO:0017361 NANDO:2200916 http://nanbyodata.jp/ontology/NANDO_2200916 若年性ポリポーシス Juvenile polyposis 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 https://monarchinitiative.org/MONDO:0017380 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://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 https://monarchinitiative.org/MONDO:0017381 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://www.w3.org/2004/02/skos/core#exactMatch 先天性サイトメガロウイルス感染症 fetal cytomegalovirus syndrome https://monarchinitiative.org/MONDO:0017409 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 慢性偽性腸閉塞 chronic intestinal pseudoobstruction https://monarchinitiative.org/MONDO:0017574 NANDO:2200964 http://nanbyodata.jp/ontology/NANDO_2200964 13トリソミー症候群 Trisomy 13 MONDO:0018068 http://www.w3.org/2004/02/skos/core#exactMatch 13トリソミー trisomy 13 https://monarchinitiative.org/MONDO:0018068 NANDO:2200963 http://nanbyodata.jp/ontology/NANDO_2200963 18トリソミー症候群 Trisomy 18 MONDO:0018071 http://www.w3.org/2004/02/skos/core#exactMatch 18トリソミー症候群 trisomy 18 https://monarchinitiative.org/MONDO:0018071 NANDO:2200878 http://nanbyodata.jp/ontology/NANDO_2200878 点頭てんかん West syndrome MONDO:0018097 http://www.w3.org/2004/02/skos/core#exactMatch 点頭てんかん infantile spasms https://monarchinitiative.org/MONDO:0018097 NANDO:2200914 http://nanbyodata.jp/ontology/NANDO_2200914 腸リンパ管拡張症 Intestinal lymphangiectasia MONDO:0018178 http://www.w3.org/2004/02/skos/core#exactMatch 腸リンパ管拡張症 intestinal lymphangiectasia https://monarchinitiative.org/MONDO:0018178 NANDO:2200901 http://nanbyodata.jp/ontology/NANDO_2200901 痙攣重積型急性脳症 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018198 http://www.w3.org/2004/02/skos/core#exactMatch 痙攣重積型（二相性）急性脳症 acute encephalopathy with biphasic seizures and late reduced diffusion https://monarchinitiative.org/MONDO:0018198 NANDO:2200945 http://nanbyodata.jp/ontology/NANDO_2200945 ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 http://www.w3.org/2004/02/skos/core#exactMatch ヒルシュスプルング病 Hirschsprung disease https://monarchinitiative.org/MONDO:0018309 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 非特異性多発性小腸潰瘍症 chronic enteropathy associated with SLCO2A1 gene https://monarchinitiative.org/MONDO:0018766 NANDO:2200934 http://nanbyodata.jp/ontology/NANDO_2200934 先天性多発肝内胆管拡張症 Caroli disease MONDO:0018808 http://www.w3.org/2004/02/skos/core#exactMatch 先天性多発肝内胆管拡張症 Caroli syndrome https://monarchinitiative.org/MONDO:0018808 NANDO:2200936 http://nanbyodata.jp/ontology/NANDO_2200936 先天性肝線維症 Congenital hepatic fibrosis MONDO:0018840 http://www.w3.org/2004/02/skos/core#exactMatch 先天性肝線維症 isolated congenital hepatic fibrosis https://monarchinitiative.org/MONDO:0018840 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch アイカルディ・ゴーティエ症候群 Aicardi-Goutieres syndrome https://monarchinitiative.org/MONDO:0018866 NANDO:2200986 http://nanbyodata.jp/ontology/NANDO_2200986 眼皮膚白皮症 Oculocutaneous albinism MONDO:0018910 http://www.w3.org/2004/02/skos/core#exactMatch 眼皮膚白皮症 oculocutaneous albinism https://monarchinitiative.org/MONDO:0018910 NANDO:2200871 http://nanbyodata.jp/ontology/NANDO_2200871 マルチコア病 Multicore disease 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 https://monarchinitiative.org/MONDO:0018948 NANDO:2200969 http://nanbyodata.jp/ontology/NANDO_2200969 ロイス・ディーツ症候群 Loeys-Dietz syndrome MONDO:0018954 http://www.w3.org/2004/02/skos/core#exactMatch ロイス・ディーツ症候群 Loeys-Dietz syndrome https://monarchinitiative.org/MONDO:0018954 NANDO:2200869 http://nanbyodata.jp/ontology/NANDO_2200869 ネマリンミオパチー Nemaline myopathy MONDO:0018958 http://www.w3.org/2004/02/skos/core#exactMatch ネマリンミオパチー nemaline myopathy https://monarchinitiative.org/MONDO:0018958 NANDO:2200847 http://nanbyodata.jp/ontology/NANDO_2200847 Carpenter症候群 Carpenter syndrome MONDO:0019012 http://www.w3.org/2004/02/skos/core#exactMatch カーペンター症候群 Carpenter syndrome https://monarchinitiative.org/MONDO:0019012 NANDO:2200836 http://nanbyodata.jp/ontology/NANDO_2200836 先天性大脳白質形成不全症 Congenital hypomyelinating leukodystrophy MONDO:0019046 http://www.w3.org/2004/02/skos/core#exactMatch 先天性大脳白質形成不全症 leukodystrophy https://monarchinitiative.org/MONDO:0019046 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome https://monarchinitiative.org/MONDO:0019188 NANDO:2200953 http://nanbyodata.jp/ontology/NANDO_2200953 ソトス症候群 Sotos syndrome MONDO:0019349 http://www.w3.org/2004/02/skos/core#exactMatch ソトス症候群 Sotos syndrome https://monarchinitiative.org/MONDO:0019349 NANDO:2200993 http://nanbyodata.jp/ontology/NANDO_2200993 ネザートン症候群 Netherton syndrome MONDO:0009735 http://www.w3.org/2004/02/skos/core#exactMatch ネザートン症候群 Netherton syndrome https://monarchinitiative.org/MONDO:0009735 NANDO:2201192 http://nanbyodata.jp/ontology/NANDO_2201192 シアリドーシスII型 Sialidosis type 2 MONDO:0009738 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス2型 sialidosis type 2 https://monarchinitiative.org/MONDO:0009738 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病A型 Niemann-Pick disease type A https://monarchinitiative.org/MONDO:0009756 NANDO:2201165 http://nanbyodata.jp/ontology/NANDO_2201165 糖原病IXb型 Glycogen storage disease type IXb MONDO:0009868 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXb glycogen storage disease IXb https://monarchinitiative.org/MONDO:0009868 NANDO:2201163 http://nanbyodata.jp/ontology/NANDO_2201163 成人型糖原病IV型 Glycogen storage disease type IV, adult form MONDO:0009897 http://www.w3.org/2004/02/skos/core#exactMatch 成人型ポリグルコサン小体病 adult polyglucosan body disease https://monarchinitiative.org/MONDO:0009897 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 皮膚ポルフィリン症 cutaneous porphyria https://monarchinitiative.org/MONDO:0009902 NANDO:2201023 http://nanbyodata.jp/ontology/NANDO_2201023 濃化異骨症 Pycnodysostosis MONDO:0009940 http://www.w3.org/2004/02/skos/core#exactMatch 濃化異骨症 pycnodysostosis https://monarchinitiative.org/MONDO:0009940 NANDO:2201200 http://nanbyodata.jp/ontology/NANDO_2201200 サンドホフ病 Sandhoff disease MONDO:0010006 http://www.w3.org/2004/02/skos/core#exactMatch サンドホフ病 Sandhoff disease https://monarchinitiative.org/MONDO:0010006 NANDO:2201237 http://nanbyodata.jp/ontology/NANDO_2201237 乳児型遊離シアル酸蓄積症 Infantile free sialic acid storage disease MONDO:0010027 http://www.w3.org/2004/02/skos/core#exactMatch 遊離シアル酸蓄積症, 乳児型 free sialic acid storage disease, infantile form https://monarchinitiative.org/MONDO:0010027 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch シェーグレン・ラルソン症候群 Sjogren-Larsson syndrome https://monarchinitiative.org/MONDO:0010031 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch テイ・サックス病AB変異体 Tay-Sachs disease AB variant https://monarchinitiative.org/MONDO:0010099 NANDO:2201199 http://nanbyodata.jp/ontology/NANDO_2201199 テイ・サックス病 Tay-Sachs disease MONDO:0010100 http://www.w3.org/2004/02/skos/core#exactMatch テイ・サックス病 Tay-Sachs disease https://monarchinitiative.org/MONDO:0010100 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ドルフマン・シャナリン症候群 Dorfman-Chanarin disease https://monarchinitiative.org/MONDO:0010155 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸尿症およびホモシスチン尿症cblF型 methylmalonic aciduria and homocystinuria type cblF https://monarchinitiative.org/MONDO:0010183 NANDO:2201107 http://nanbyodata.jp/ontology/NANDO_2201107 コバラミン代謝異常 cblC Methylmalonic aciduria and homocystinuria, cblC type MONDO:0010184 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸尿症およびホモシスチン尿症cblC型 methylmalonic aciduria and homocystinuria type cblC https://monarchinitiative.org/MONDO:0010184 NANDO:2201108 http://nanbyodata.jp/ontology/NANDO_2201108 コバラミン代謝異常 cblD Methylmalonic acidemia CblD type MONDO:0010185 http://www.w3.org/2004/02/skos/core#exactMatch メチルマロン酸尿症およびホモシスチン尿症cblD型 methylmalonic aciduria and homocystinuria type cblD https://monarchinitiative.org/MONDO:0010185 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch X連鎖性大脳型副腎白質ジストロフィー X-linked cerebral adrenoleukodystrophy https://monarchinitiative.org/MONDO:0010247 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch アラン・ハーンドン・タドリー症候群 Allan-Herndon-Dudley syndrome https://monarchinitiative.org/MONDO:0010354 NANDO:2201167 http://nanbyodata.jp/ontology/NANDO_2201167 糖原病IXd型 Glycogen storage disease type IXd MONDO:0010362 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXd glycogen storage disease IXd https://monarchinitiative.org/MONDO:0010362 NANDO:2201279 http://nanbyodata.jp/ontology/NANDO_2201279 gp91phox欠損慢性肉芽腫症 gp91phox-deficient chronic granulomatous disease MONDO:0010389 http://www.w3.org/2004/02/skos/core#exactMatch CYBB欠損によるX連鎖性メンデル遺伝型マイコバクテリア易感染症 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency https://monarchinitiative.org/MONDO:0010389 NANDO:2201269 http://nanbyodata.jp/ontology/NANDO_2201269 X連鎖優性プロトポルフィリン症 X-linked dominant protoporphyria MONDO:0010420 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖骨髄性プロトポルフィリン症 X-linked erythropoietic protoporphyria https://monarchinitiative.org/MONDO:0010420 NANDO:2201164 http://nanbyodata.jp/ontology/NANDO_2201164 糖原病IXa型 Glycogen storage disease type IXa MONDO:0010598 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXa1 glycogen storage disease IXa1 https://monarchinitiative.org/MONDO:0010598 NANDO:2200998 http://nanbyodata.jp/ontology/NANDO_2200998 CHILD症候群 CHILD syndrome MONDO:0010621 http://www.w3.org/2004/02/skos/core#exactMatch CHILD症候群 CHILD syndrome https://monarchinitiative.org/MONDO:0010621 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://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 https://monarchinitiative.org/MONDO:0010714 NANDO:2201071 http://nanbyodata.jp/ontology/NANDO_2201071 MODY3 Maturity-onset diabetes of the young type 3 MONDO:0010894 http://www.w3.org/2004/02/skos/core#exactMatch 若年発症成人型糖尿病3型 maturity-onset diabetes of the young type 3 https://monarchinitiative.org/MONDO:0010894 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 筋拘縮型 Ehlers-Danlos syndrome, musculocontractural type https://monarchinitiative.org/MONDO:0011142 NANDO:2201291 http://nanbyodata.jp/ontology/NANDO_2201291 18q欠失症候群 18q-syndrome MONDO:0011147 http://www.w3.org/2004/02/skos/core#exactMatch 18q欠失症候群 chromosome 18q deletion syndrome https://monarchinitiative.org/MONDO:0011147 NANDO:2201273 http://nanbyodata.jp/ontology/NANDO_2201273 α - サラセミア α-thalassemia MONDO:0011399 http://www.w3.org/2004/02/skos/core#exactMatch αサラセミアスペクトル alpha thalassemia spectrum https://monarchinitiative.org/MONDO:0011399 NANDO:2201072 http://nanbyodata.jp/ontology/NANDO_2201072 MODY4 Maturity-onset diabetes of the young type 4 MONDO:0011667 http://www.w3.org/2004/02/skos/core#exactMatch 若年発症成人型糖尿病4型 maturity-onset diabetes of the young type 4 https://monarchinitiative.org/MONDO:0011667 NANDO:2201170 http://nanbyodata.jp/ontology/NANDO_2201170 Hurler-Scheie病 Hurler-Scheie disease MONDO:0011759 http://www.w3.org/2004/02/skos/core#exactMatch Hurler-Scheie症候群 Hurler-Scheie syndrome https://monarchinitiative.org/MONDO:0011759 NANDO:2201169 http://nanbyodata.jp/ontology/NANDO_2201169 Scheie病 Scheie disease MONDO:0011760 http://www.w3.org/2004/02/skos/core#exactMatch Scheie症候群 Scheie syndrome https://monarchinitiative.org/MONDO:0011760 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://www.w3.org/2004/02/skos/core#exactMatch 慢性乳児神経皮膚関節症候群 CINCA syndrome https://monarchinitiative.org/MONDO:0011776 NANDO:2201059 http://nanbyodata.jp/ontology/NANDO_2201059 若年性特発性関節炎（乾癬性関節炎） Psoriatic juvenile idiopathic arthritis MONDO:0011849 http://www.w3.org/2004/02/skos/core#exactMatch 乾癬性関節炎 psoriatic arthritis https://monarchinitiative.org/MONDO:0011849 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://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病B型 Niemann-Pick disease type B https://monarchinitiative.org/MONDO:0011871 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch カルニチンパルミトイルトランスフェラーゼII欠損症, 新生児型 carnitine palmitoyl transferase II deficiency, neonatal form https://monarchinitiative.org/MONDO:0012136 NANDO:2201276 http://nanbyodata.jp/ontology/NANDO_2201276 特発性再生不良性貧血 Idiopathic aplastic anemia MONDO:0012197 http://www.w3.org/2004/02/skos/core#exactMatch 特発性再生不良性貧血 idiopathic aplastic anemia https://monarchinitiative.org/MONDO:0012197 NANDO:2201152 http://nanbyodata.jp/ontology/NANDO_2201152 糖原病0b型 Glycogen storage disease type 0b MONDO:0012693 http://www.w3.org/2004/02/skos/core#exactMatch 筋・心グリコーゲン合成酵素欠損による糖原病 glycogen storage disease due to muscle and heart glycogen synthase deficiency https://monarchinitiative.org/MONDO:0012693 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー6 hypomyelinating leukodystrophy 6 https://monarchinitiative.org/MONDO:0012905 NANDO:2201166 http://nanbyodata.jp/ontology/NANDO_2201166 糖原病IXc型 Glycogen storage disease type IXc MONDO:0013091 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXc glycogen storage disease IXc https://monarchinitiative.org/MONDO:0013091 NANDO:2201283 http://nanbyodata.jp/ontology/NANDO_2201283 p40phox欠損慢性肉芽腫症 p40phox-deficient chronic granulomatous disease MONDO:0013507 http://www.w3.org/2004/02/skos/core#exactMatch 肉芽腫症, 慢性, 常染色体潜性, シトクロムb陽性, 3型 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 https://monarchinitiative.org/MONDO:0013507 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 晩発性皮膚ポルフィリン症 porphyria cutanea tarda https://monarchinitiative.org/MONDO:0015104 NANDO:2201054 http://nanbyodata.jp/ontology/NANDO_2201054 家族性甲状腺髄様癌 Medullary thyroid carcinoma MONDO:0015277 http://www.w3.org/2004/02/skos/core#exactMatch 甲状腺髄様癌 medullary thyroid gland carcinoma https://monarchinitiative.org/MONDO:0015277 NANDO:2201248 http://nanbyodata.jp/ontology/NANDO_2201248 副腎脊髄ニューロパチー Adrenomyeloneuropathy MONDO:0015339 http://www.w3.org/2004/02/skos/core#exactMatch 副腎脊髄ニューロパチー adrenomyeloneuropathy https://monarchinitiative.org/MONDO:0015339 NANDO:2201033 http://nanbyodata.jp/ontology/NANDO_2201033 リンパ管腫症 Lymphangiomatosis MONDO:0015408 http://www.w3.org/2004/02/skos/core#exactMatch びまん性リンパ管奇形 diffuse lymphatic malformation https://monarchinitiative.org/MONDO:0015408 NANDO:2201277 http://nanbyodata.jp/ontology/NANDO_2201277 二次性再生不良性貧血 Secondary aplastic anemia MONDO:0015610 http://www.w3.org/2004/02/skos/core#exactMatch 後天性再生不良性貧血 acquired aplastic anemia https://monarchinitiative.org/MONDO:0015610 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:0015674 http://www.w3.org/2004/02/skos/core#exactMatch 遅発性乳児型神経セロイドリポフスチン症 late infantile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0015674 NANDO:2201008 http://nanbyodata.jp/ontology/NANDO_2201008 胸郭不全症候群 Thoracic insufficiency syndrome MONDO:0015929 http://www.w3.org/2004/02/skos/core#exactMatch 胸郭奇形 thoracic malformation https://monarchinitiative.org/MONDO:0015929 NANDO:2201216 http://nanbyodata.jp/ontology/NANDO_2201216 乳児型クラッベ病 Infantile Krabbe disease MONDO:0016089 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型クラッベ病 infantile Krabbe disease https://monarchinitiative.org/MONDO:0016089 NANDO:2201219 http://nanbyodata.jp/ontology/NANDO_2201219 成人型クラッベ病 Adult Krabbe disease MONDO:0016091 http://www.w3.org/2004/02/skos/core#exactMatch 成人型クラッベ病 adult Krabbe disease https://monarchinitiative.org/MONDO:0016091 NANDO:2201209 http://nanbyodata.jp/ontology/NANDO_2201209 成人型ニーマン・ピック病C型 Adult-onset Niemann-Pick disease type C MONDO:0016310 http://www.w3.org/2004/02/skos/core#exactMatch ニーマン・ピック病C型, 成人期神経発症 Niemann-Pick disease type C, adult neurologic onset https://monarchinitiative.org/MONDO:0016310 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型, 重症型 mucopolysaccharidosis type 2, severe form https://monarchinitiative.org/MONDO:0016315 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ムコ多糖症2型, 軽症型 mucopolysaccharidosis type 2, attenuated form https://monarchinitiative.org/MONDO:0016316 NANDO:2201005 http://nanbyodata.jp/ontology/NANDO_2201005 無汗性外胚葉形成不全 Anhidrotic ectodermal dysplasia MONDO:0016535 http://www.w3.org/2004/02/skos/core#exactMatch 無汗性外胚葉異形成症 hypohidrotic ectodermal dysplasia https://monarchinitiative.org/MONDO:0016535 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://www.w3.org/2004/02/skos/core#exactMatch 急性新生児シトルリン血症I型 acute neonatal citrullinemia type I https://monarchinitiative.org/MONDO:0016600 NANDO:2201095 http://nanbyodata.jp/ontology/NANDO_2201095 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://www.w3.org/2004/02/skos/core#exactMatch 成人発症シトルリン血症I型 adult-onset citrullinemia type I https://monarchinitiative.org/MONDO:0016601 NANDO:2201004 http://nanbyodata.jp/ontology/NANDO_2201004 肥厚性皮膚骨膜症 Pachydermoperiostosis MONDO:0016620 http://www.w3.org/2004/02/skos/core#exactMatch 原発性肥大性骨関節症 primary hypertrophic osteoarthropathy https://monarchinitiative.org/MONDO:0016620 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://www.w3.org/2004/02/skos/core#exactMatch 古典型メープルシロップ尿症 classic maple syrup urine disease https://monarchinitiative.org/MONDO:0017051 NANDO:2201079 http://nanbyodata.jp/ontology/NANDO_2201079 中間型メープルシロップ尿症 Intermediate maple syrup urine disease MONDO:0017052 http://www.w3.org/2004/02/skos/core#exactMatch 中間型メープルシロップ尿症 intermediate maple syrup urine disease https://monarchinitiative.org/MONDO:0017052 NANDO:2201080 http://nanbyodata.jp/ontology/NANDO_2201080 間欠型メープルシロップ尿症 Intermittent maple syrup urine disease MONDO:0017053 http://www.w3.org/2004/02/skos/core#exactMatch 間欠型メープルシロップ尿症 intermittent maple syrup urine disease https://monarchinitiative.org/MONDO:0017053 NANDO:2201081 http://nanbyodata.jp/ontology/NANDO_2201081 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://www.w3.org/2004/02/skos/core#exactMatch チアミン反応型メープルシロップ尿症 thiamine-responsive maple syrup urine disease https://monarchinitiative.org/MONDO:0017054 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 遺伝性肺動脈性肺高血圧症 heritable pulmonary arterial hypertension https://monarchinitiative.org/MONDO:0017148 NANDO:2201013 http://nanbyodata.jp/ontology/NANDO_2201013 大理石骨病 Osteopetrosis MONDO:0017198 http://www.w3.org/2004/02/skos/core#exactMatch 大理石骨病 osteopetrosis https://monarchinitiative.org/MONDO:0017198 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://www.w3.org/2004/02/skos/core#exactMatch ペリツェウス・メルツバッハ様病1 Pelizaeus-Merzbacher-like disease https://monarchinitiative.org/MONDO:0017226 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 常染色体潜性先天性魚鱗癬 autosomal recessive congenital ichthyosis https://monarchinitiative.org/MONDO:0017265 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群, 血管型 Ehlers-Danlos syndrome, vascular type https://monarchinitiative.org/MONDO:0017314 NANDO: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://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 https://monarchinitiative.org/MONDO:0017389 NANDO:2201229 http://nanbyodata.jp/ontology/NANDO_2201229 乳児型ポンペ病 Classic infantile Pompe disease MONDO:0017694 http://www.w3.org/2004/02/skos/core#exactMatch 酸性マルターゼ欠損による糖原病, 乳児期発症 glycogen storage disease due to acid maltase deficiency, infantile onset https://monarchinitiative.org/MONDO:0017694 NANDO:2201159 http://nanbyodata.jp/ontology/NANDO_2201159 肝型糖原病IV型 Glycogen storage disease type IV, hepatic form MONDO:0017695 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損による糖原病, 進行性肝型 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form https://monarchinitiative.org/MONDO:0017695 NANDO:2201160 http://nanbyodata.jp/ontology/NANDO_2201160 非進行性肝型糖原病IV型 Glycogen storage disease type IV, non-progressive hepatic form MONDO:0017696 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損による糖原病, 非進行性肝型 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form https://monarchinitiative.org/MONDO:0017696 NANDO:2201161 http://nanbyodata.jp/ontology/NANDO_2201161 致死性神経・筋型糖原病IV型 Glycogen storage disease type IV, fatal neuromuscular form MONDO:0017697 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損による糖原病, 致死性周産期神経筋型 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form https://monarchinitiative.org/MONDO:0017697 NANDO:2201162 http://nanbyodata.jp/ontology/NANDO_2201162 幼児筋・肝型糖原病IV型 Glycogen storage disease type IV, childhood combined hepatic and myopathic form MONDO:0017699 http://www.w3.org/2004/02/skos/core#exactMatch グリコーゲン分枝酵素欠損症による糖原病, 小児期肝筋型 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form https://monarchinitiative.org/MONDO:0017699 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 乳幼児型 metachromatic leukodystrophy, late infantile form https://monarchinitiative.org/MONDO:0017729 NANDO:2201204 http://nanbyodata.jp/ontology/NANDO_2201204 成人型異染性白質ジストロフィー Metachromatic leukodystrophy, adult form MONDO:0017730 http://www.w3.org/2004/02/skos/core#exactMatch 異染性白質ジストロフィー, 成人型 metachromatic leukodystrophy, adult form https://monarchinitiative.org/MONDO:0017730 NANDO:2201188 http://nanbyodata.jp/ontology/NANDO_2201188 乳児型α - マンノシドーシス Alpha-mannosidosis, infantile form MONDO:0017732 http://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス型, 乳児型 alpha-mannosidosis, infantile form https://monarchinitiative.org/MONDO:0017732 NANDO:2201189 http://nanbyodata.jp/ontology/NANDO_2201189 若年成人型α - マンノシドーシス Alpha-mannosidosis, adult form MONDO:0017733 http://www.w3.org/2004/02/skos/core#exactMatch α-マンノシドーシス型, 若年成人型 alpha-mannosidosis, adult form https://monarchinitiative.org/MONDO:0017733 NANDO:2201238 http://nanbyodata.jp/ontology/NANDO_2201238 中間型遊離シアル酸蓄積症 Intermediate severe Salla disease MONDO:0017737 http://www.w3.org/2004/02/skos/core#exactMatch 中間型重症サラ病 intermediate severe Salla disease https://monarchinitiative.org/MONDO:0017737 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://www.w3.org/2004/02/skos/core#exactMatch スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome https://monarchinitiative.org/MONDO:0018229 NANDO:2201021 http://nanbyodata.jp/ontology/NANDO_2201021 TRPV4異常症 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders MONDO:0018240 http://www.w3.org/2004/02/skos/core#exactMatch ＴＲＰＶ４関連骨障害 TRPV4-related bone disorder https://monarchinitiative.org/MONDO:0018240 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://www.w3.org/2004/02/skos/core#exactMatch ホモ接合性家族性高コレステロール血症 homozygous familial hypercholesterolemia https://monarchinitiative.org/MONDO:0018328 NANDO:2201012 http://nanbyodata.jp/ontology/NANDO_2201012 低ホスファターゼ症 Hypophosphatasia MONDO:0018570 http://www.w3.org/2004/02/skos/core#exactMatch 低ホスファターゼ症 hypophosphatasia https://monarchinitiative.org/MONDO:0018570 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 家族性寒冷自己炎症症候群 familial cold autoinflammatory syndrome https://monarchinitiative.org/MONDO:0018768 NANDO:2200996 http://nanbyodata.jp/ontology/NANDO_2200996 KID症候群 Keratitis-ichthyosis-deafness syndrome MONDO:0018781 http://www.w3.org/2004/02/skos/core#exactMatch KID症候群 KID syndrome https://monarchinitiative.org/MONDO:0018781 NANDO:2201003 http://nanbyodata.jp/ontology/NANDO_2201003 レックリングハウゼン病 von Recklinghausen's disease MONDO:0018975 http://www.w3.org/2004/02/skos/core#exactMatch 神経線維腫症1型 neurofibromatosis type 1 https://monarchinitiative.org/MONDO:0018975 NANDO:2201011 http://nanbyodata.jp/ontology/NANDO_2201011 骨形成不全症 Osteogenesis imperfecta MONDO:0019019 http://www.w3.org/2004/02/skos/core#exactMatch 骨形成不全症 osteogenesis imperfecta https://monarchinitiative.org/MONDO:0019019 NANDO:2201232 http://nanbyodata.jp/ontology/NANDO_2201232 ウォルマン病 Wolman disease MONDO:0019148 http://www.w3.org/2004/02/skos/core#exactMatch 酸性リパーゼ欠損症 Wolman disease https://monarchinitiative.org/MONDO:0019148 NANDO:2201233 http://nanbyodata.jp/ontology/NANDO_2201233 コレステロールエステル蓄積症 Cholesterol ester storage disease MONDO:0019149 http://www.w3.org/2004/02/skos/core#exactMatch コレステロールエステル蓄積症 cholesteryl ester storage disease https://monarchinitiative.org/MONDO:0019149 NANDO:2201031 http://nanbyodata.jp/ontology/NANDO_2201031 原発性リンパ浮腫 Primary lymphedema MONDO:0019175 http://www.w3.org/2004/02/skos/core#exactMatch 原発性リンパ浮腫 primary lymphedema https://monarchinitiative.org/MONDO:0019175 NANDO:2201034 http://nanbyodata.jp/ontology/NANDO_2201034 遺伝性出血性末梢血管拡張症 Hereditary hemorrhagic telangiectasia MONDO:0019180 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性出血性毛細血管拡張症 hereditary hemorrhagic telangiectasia https://monarchinitiative.org/MONDO:0019180 NANDO:2201244 http://nanbyodata.jp/ontology/NANDO_2201244 成人型神経セロイドリポフスチン症 Adult neuronal ceroid lipofuscinosis MONDO:0019260 http://www.w3.org/2004/02/skos/core#exactMatch 成人型神経セロイドリポフスチン症 adult neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019260 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:0019261 http://www.w3.org/2004/02/skos/core#exactMatch 乳児型神経セロイドリポフスチン症 infantile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019261 NANDO:2201243 http://nanbyodata.jp/ontology/NANDO_2201243 若年型神経セロイドリポフスチン症 Juvenile neuronal ceroid lipofuscinosis MONDO:0019262 http://www.w3.org/2004/02/skos/core#exactMatch 若年型神経セロイドリポフスチン症 juvenile neuronal ceroid lipofuscinosis https://monarchinitiative.org/MONDO:0019262 NANDO:2201191 http://nanbyodata.jp/ontology/NANDO_2201191 シアリドーシスI型 Sialidosis type 1 MONDO:0019346 http://www.w3.org/2004/02/skos/core#exactMatch シアリドーシス1型 sialidosis type 1 https://monarchinitiative.org/MONDO:0019346 NANDO:2201274 http://nanbyodata.jp/ontology/NANDO_2201274 β - サラセミア β-thalassemia MONDO:0019402 http://www.w3.org/2004/02/skos/core#exactMatch ベータサラセミア beta thalassemia https://monarchinitiative.org/MONDO:0019402 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://www.w3.org/2004/02/skos/core#exactMatch 関節型若年性特発性関節炎 oligoarticular juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019433 NANDO:2201509 http://nanbyodata.jp/ontology/NANDO_2201509 先天性ミオトニー Myotonia congenita MONDO:0009710 http://www.w3.org/2004/02/skos/core#exactMatch トムゼン・ベッカー病 Thomsen and Becker disease https://monarchinitiative.org/MONDO:0009710 NANDO:2201511 http://nanbyodata.jp/ontology/NANDO_2201511 ベッカー病 Becker disease MONDO:0009715 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオトニー, 常染色体潜性 myotonia congenita, autosomal recessive https://monarchinitiative.org/MONDO:0009715 NANDO:1201114 http://nanbyodata.jp/ontology/NANDO_1201114 α2-PI 欠乏症 α2-plasmin inhibitor deficiency MONDO:0009883 http://www.w3.org/2004/02/skos/core#exactMatch α2プラスミンインヒビター欠損症 alpha-2-plasmin inhibitor deficiency https://monarchinitiative.org/MONDO:0009883 NANDO:2201367 http://nanbyodata.jp/ontology/NANDO_2201367 骨幹端異形成症 Metaphyseal dysplasias MONDO:0009943 http://www.w3.org/2004/02/skos/core#exactMatch パイル病 Pyle disease https://monarchinitiative.org/MONDO:0009943 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://www.w3.org/2004/02/skos/core#exactMatch ピリドキシン依存性てんかん pyridoxine-dependent epilepsy https://monarchinitiative.org/MONDO:0009945 NANDO:2201531 http://nanbyodata.jp/ontology/NANDO_2201531 ラパデリノ症候群 RAPADILINO symdrome MONDO:0009955 http://www.w3.org/2004/02/skos/core#exactMatch ラパデリノ症候群 rapadilino syndrome https://monarchinitiative.org/MONDO:0009955 NANDO:2201527 http://nanbyodata.jp/ontology/NANDO_2201527 ロスムンド・トムソン症候群 Rothmund-Thomson syndrome MONDO:0010002 http://www.w3.org/2004/02/skos/core#exactMatch ロスムンド・トムソン症候群 Rothmund-Thomson syndrome https://monarchinitiative.org/MONDO:0010002 NANDO:2201433 http://nanbyodata.jp/ontology/NANDO_2201433 脊髄性筋萎縮症IV型 Spinal muscular atrophy type IV MONDO:0010056 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄性筋萎縮症IV型 spinal muscular atrophy, type IV https://monarchinitiative.org/MONDO:0010056 NANDO:2201351 http://nanbyodata.jp/ontology/NANDO_2201351 脊椎末梢異形成症 Spondyloperipheral dysplasia MONDO:0010078 http://www.w3.org/2004/02/skos/core#exactMatch 脊椎末梢異形成症 spondyloperipheral dysplasia https://monarchinitiative.org/MONDO:0010078 NANDO:2201404 http://nanbyodata.jp/ontology/NANDO_2201404 PCDH19関連症候群 PCDH19-related syndrome MONDO:0010246 http://www.w3.org/2004/02/skos/core#exactMatch 発達性およびてんかん性脳症9 developmental and epileptic encephalopathy, 9 https://monarchinitiative.org/MONDO:0010246 NANDO:2201301 http://nanbyodata.jp/ontology/NANDO_2201301 SLC6A8欠損症 SLC6A8 deficiency MONDO:0010305 http://www.w3.org/2004/02/skos/core#exactMatch クレアチントランスポーター欠損症 creatine transporter deficiency https://monarchinitiative.org/MONDO:0010305 NANDO:2201393 http://nanbyodata.jp/ontology/NANDO_2201393 ＣＡＳＫ異常症 CASK abnormality MONDO:0010417 http://www.w3.org/2004/02/skos/core#exactMatch 症候性X連鎖性知的障害Najm型 syndromic X-linked intellectual disability Najm type https://monarchinitiative.org/MONDO:0010417 NANDO:2201414 http://nanbyodata.jp/ontology/NANDO_2201414 WDR45関連神経変性症 WDR45 associated neurodegeneration 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 https://monarchinitiative.org/MONDO:0010476 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://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 https://monarchinitiative.org/MONDO:0010476 NANDO:2201395 http://nanbyodata.jp/ontology/NANDO_2201395 DDX3X関連神経発達異常症 DDX3X-related neurodevelopmental disorder MONDO:0010497 http://www.w3.org/2004/02/skos/core#exactMatch 知的障害, X連鎖性102 intellectual disability, X-linked 102 https://monarchinitiative.org/MONDO:0010497 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch X連鎖性根性点状軟骨異形成症1 X-linked chondrodysplasia punctata 1 https://monarchinitiative.org/MONDO:0010555 NANDO:2201397 http://nanbyodata.jp/ontology/NANDO_2201397 アイカルディ症候群 Aicardi syndrome MONDO:0010568 http://www.w3.org/2004/02/skos/core#exactMatch アイカルディ症候群 Aicardi syndrome https://monarchinitiative.org/MONDO:0010568 NANDO:1201175 http://nanbyodata.jp/ontology/NANDO_1201175 ホスホリラーゼキナーゼ欠損症 Phosphorylase kinase deficiency MONDO:0010598 http://www.w3.org/2004/02/skos/core#exactMatch 糖原病IXa1 glycogen storage disease IXa1 https://monarchinitiative.org/MONDO:0010598 NANDO:1201116 http://nanbyodata.jp/ontology/NANDO_1201116 ロウ症候群 Lowe syndrome MONDO:0010645 http://www.w3.org/2004/02/skos/core#exactMatch 眼腎脳症候群 oculocerebrorenal syndrome https://monarchinitiative.org/MONDO:0010645 NANDO:2201475 http://nanbyodata.jp/ontology/NANDO_2201475 バッド・キアリ症候群 Budd-Chiari syndrome MONDO:0010947 http://www.w3.org/2004/02/skos/core#exactMatch バッド・キアリ症候群 Budd-Chiari syndrome https://monarchinitiative.org/MONDO:0010947 NANDO:2201437 http://nanbyodata.jp/ontology/NANDO_2201437 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://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞2型 progressive familial intrahepatic cholestasis type 2 https://monarchinitiative.org/MONDO:0011156 NANDO:2201438 http://nanbyodata.jp/ontology/NANDO_2201438 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://www.w3.org/2004/02/skos/core#exactMatch 進行性家族性肝内胆汁うっ滞3型 progressive familial intrahepatic cholestasis type 3 https://monarchinitiative.org/MONDO:0011214 NANDO:1201152 http://nanbyodata.jp/ontology/NANDO_1201152 無セルロプラスミン血症 Aceruloplasminemia MONDO:0011426 http://www.w3.org/2004/02/skos/core#exactMatch NBIA４ aceruloplasminemia https://monarchinitiative.org/MONDO:0011426 NANDO:2201294 http://nanbyodata.jp/ontology/NANDO_2201294 サラ病 Salla disease MONDO:0011449 http://www.w3.org/2004/02/skos/core#exactMatch サラ病 Salla disease https://monarchinitiative.org/MONDO:0011449 NANDO:2201352 http://nanbyodata.jp/ontology/NANDO_2201352 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://www.w3.org/2004/02/skos/core#exactMatch 早発性変形性関節症を伴うCOL2A1変異による軽症脊椎骨端異形成症 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis https://monarchinitiative.org/MONDO:0011496 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ヴィーデマン・スタイナー症候群 Wiedemann-Steiner syndrome https://monarchinitiative.org/MONDO:0011518 NANDO:2201297 http://nanbyodata.jp/ontology/NANDO_2201297 失調、歯牙低形成を伴う髄鞘形成不全症 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:0011897 http://www.w3.org/2004/02/skos/core#exactMatch 白質ジストロフィー,白質低形成7,乏歯症および/または続発性性腺機能低下症を伴うまたは伴わない leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism https://monarchinitiative.org/MONDO:0011897 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://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 https://monarchinitiative.org/MONDO:0012104 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://www.w3.org/2004/02/skos/core#exactMatch PCWH症候群 PCWH syndrome https://monarchinitiative.org/MONDO:0012198 NANDO:2201353 http://nanbyodata.jp/ontology/NANDO_2201353 中足骨短縮を伴う脊椎骨端異形成症 Spondyloepiphyseal dysplasia with metatarsal shortening MONDO:0012206 http://www.w3.org/2004/02/skos/core#exactMatch 中足骨短縮を伴う脊椎骨端異形成症 spondyloepiphyseal dysplasia with metatarsal shortening https://monarchinitiative.org/MONDO:0012206 NANDO: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://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 https://monarchinitiative.org/MONDO:0012407 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://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー5 hypomyelinating leukodystrophy 5 https://monarchinitiative.org/MONDO:0012514 NANDO:2201419 http://nanbyodata.jp/ontology/NANDO_2201419 ピット・ホプキンス症候群 Pitt-Hopkins syndrome MONDO:0012589 http://www.w3.org/2004/02/skos/core#exactMatch Pitt-Hopkins症候群 Pitt-Hopkins syndrome https://monarchinitiative.org/MONDO:0012589 NANDO:2201293 http://nanbyodata.jp/ontology/NANDO_2201293 Hsp60シャペロン病 Mitochondrial Hsp60 chaperonopathy MONDO:0012824 http://www.w3.org/2004/02/skos/core#exactMatch ミエリン形成不全性白質ジストロフィー4 hypomyelinating leukodystrophy 4 https://monarchinitiative.org/MONDO:0012824 NANDO:2201299 http://nanbyodata.jp/ontology/NANDO_2201299 AGAT欠損症 AGAT deficiency MONDO:0012996 http://www.w3.org/2004/02/skos/core#exactMatch AGAT欠損症 AGAT deficiency https://monarchinitiative.org/MONDO:0012996 NANDO:2201300 http://nanbyodata.jp/ontology/NANDO_2201300 GAMT欠損症 GAMT deficiency 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 https://monarchinitiative.org/MONDO:0012999 NANDO:2201389 http://nanbyodata.jp/ontology/NANDO_2201389 ADTKD-REN ADTKD-REN MONDO:0013128 http://www.w3.org/2004/02/skos/core#exactMatch 家族性若年性高尿酸血症性腎症2型 familial juvenile hyperuricemic nephropathy type 2 https://monarchinitiative.org/MONDO:0013128 NANDO:2201460 http://nanbyodata.jp/ontology/NANDO_2201460 第XIII因子欠乏症II型 Type II factor XIII deficiency MONDO:0013187 http://www.w3.org/2004/02/skos/core#exactMatch 第XIII因子Aサブユニット欠乏症 factor XIII, A subunit, deficiency of https://monarchinitiative.org/MONDO:0013187 NANDO:2201459 http://nanbyodata.jp/ontology/NANDO_2201459 第XIII因子欠乏症I型 Type I factor XIII deficiency MONDO:0013190 http://www.w3.org/2004/02/skos/core#exactMatch 第XIII因子bサブユニット欠乏症 factor XIII, b subunit, deficiency of https://monarchinitiative.org/MONDO:0013190 NANDO:1201113 http://nanbyodata.jp/ontology/NANDO_1201113 PAI-1 欠乏症 PAI-1 deficiency 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 https://monarchinitiative.org/MONDO:0013227 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://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 https://monarchinitiative.org/MONDO:0014205 NANDO:2201390 http://nanbyodata.jp/ontology/NANDO_2201390 ADTKD-SEC61A1 ADTKD-SEC61A1 MONDO:0014891 http://www.w3.org/2004/02/skos/core#exactMatch 家族性若年性高尿酸血症性腎症4型 hyperuricemic nephropathy, familial juvenile type 4 https://monarchinitiative.org/MONDO:0014891 NANDO:2201396 http://nanbyodata.jp/ontology/NANDO_2201396 先天性グリコシル化異常症 Congenital disorders of glycosylation MONDO:0015286 http://www.w3.org/2004/02/skos/core#exactMatch 先天性グリコシル化異常症 congenital disorder of glycosylation https://monarchinitiative.org/MONDO:0015286 NANDO:2201399 http://nanbyodata.jp/ontology/NANDO_2201399 環状20番染色体症候群 Ring chromosome 20 syndrome MONDO:0015436 http://www.w3.org/2004/02/skos/core#exactMatch 環状20番染色体 ring chromosome 20 https://monarchinitiative.org/MONDO:0015436 NANDO:2201366 http://nanbyodata.jp/ontology/NANDO_2201366 頭蓋骨幹端異形成症 Craniometaphyseal dysplasia MONDO:0015465 http://www.w3.org/2004/02/skos/core#exactMatch 頭蓋骨幹端異形成症 craniometaphyseal dysplasia https://monarchinitiative.org/MONDO:0015465 NANDO:2201462 http://nanbyodata.jp/ontology/NANDO_2201462 両側腎無発生 Bilateral renal agenesis MONDO:0015986 http://www.w3.org/2004/02/skos/core#exactMatch 両側性腎無発生 bilateral renal agenesis https://monarchinitiative.org/MONDO:0015986 NANDO:2201440 http://nanbyodata.jp/ontology/NANDO_2201440 好酸球性胃腸炎 Eosinophilic gastroenteritis MONDO:0016129 http://www.w3.org/2004/02/skos/core#exactMatch 好酸球性胃腸炎 eosinophilic gastroenteritis https://monarchinitiative.org/MONDO:0016129 NANDO:2201426 http://nanbyodata.jp/ontology/NANDO_2201426 タナトフォリック骨異形成症 Thanatophoric dysplasia MONDO:0017042 http://www.w3.org/2004/02/skos/core#exactMatch タナトフォリック骨異形成症 thanatophoric dysplasia https://monarchinitiative.org/MONDO:0017042 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ia型 isolated focal cortical dysplasia type Ia https://monarchinitiative.org/MONDO:0017096 NANDO:2201500 http://nanbyodata.jp/ontology/NANDO_2201500 限局性皮質異形成タイプ1b Focal cortical dysplasia type 1b MONDO:0017097 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ib型 isolated focal cortical dysplasia type Ib https://monarchinitiative.org/MONDO:0017097 NANDO:2201501 http://nanbyodata.jp/ontology/NANDO_2201501 限局性皮質異形成タイプ1c Focal cortical dysplasia type 1c MONDO:0017098 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成Ic型 isolated focal cortical dysplasia type Ic https://monarchinitiative.org/MONDO:0017098 NANDO:2201502 http://nanbyodata.jp/ontology/NANDO_2201502 限局性皮質異形成タイプ2a Focal cortical dysplasia type 2a MONDO:0017101 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成IIa型 isolated focal cortical dysplasia type IIa https://monarchinitiative.org/MONDO:0017101 NANDO:2201503 http://nanbyodata.jp/ontology/NANDO_2201503 限局性皮質異形成タイプ2b Focal cortical dysplasia type 2b MONDO:0017102 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成IIb型 isolated focal cortical dysplasia type IIb https://monarchinitiative.org/MONDO:0017102 NANDO: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://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 https://monarchinitiative.org/MONDO:0017385 NANDO:2201341 http://nanbyodata.jp/ontology/NANDO_2201341 単純型表皮水疱症 Epidermolysis bullosa simplex MONDO:0017610 http://www.w3.org/2004/02/skos/core#exactMatch 単純型表皮水疱症 epidermolysis bullosa simplex https://monarchinitiative.org/MONDO:0017610 NANDO:2201342 http://nanbyodata.jp/ontology/NANDO_2201342 接合部型表皮水疱症 Junctional epidermolysis bullosa MONDO:0017612 http://www.w3.org/2004/02/skos/core#exactMatch 接合部型表皮水疱症 junctional epidermolysis bullosa https://monarchinitiative.org/MONDO:0017612 NANDO:2201369 http://nanbyodata.jp/ontology/NANDO_2201369 硬化性骨症 Sclerosteosis MONDO:0017838 http://www.w3.org/2004/02/skos/core#exactMatch 硬結性骨化症 sclerosteosis https://monarchinitiative.org/MONDO:0017838 NANDO:2201488 http://nanbyodata.jp/ontology/NANDO_2201488 脊髄空洞症 Syringomyelia MONDO:0017987 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄空洞症 syringomyelia https://monarchinitiative.org/MONDO:0017987 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://www.w3.org/2004/02/skos/core#exactMatch 孤立性三角頭蓋 isolated trigonocephaly https://monarchinitiative.org/MONDO:0018065 NANDO:2201480 http://nanbyodata.jp/ontology/NANDO_2201480 腫瘍性骨軟化症 Tumor-induced hypophosphatemic osteomalacia MONDO:0018124 http://www.w3.org/2004/02/skos/core#exactMatch 腫瘍性骨軟化症 Oncogenic osteomalacia https://monarchinitiative.org/MONDO:0018124 NANDO:2201441 http://nanbyodata.jp/ontology/NANDO_2201441 Proton pump inhibitor-responsive esophageal eosinophilia Proton-pump inhibitor-responsive esophageal eosinophilia 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 https://monarchinitiative.org/MONDO:0018468 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://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 https://monarchinitiative.org/MONDO:0018655 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://www.w3.org/2004/02/skos/core#exactMatch 先天性全身性脂肪萎縮症 Berardinelli-Seip congenital lipodystrophy https://monarchinitiative.org/MONDO:0018883 NANDO:1201159 http://nanbyodata.jp/ontology/NANDO_1201159 ロイス・ディーツ症候群 Loeys–Dietz syndrome MONDO:0018954 http://www.w3.org/2004/02/skos/core#exactMatch ロイス・ディーツ症候群 Loeys-Dietz syndrome https://monarchinitiative.org/MONDO:0018954 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch カリウム惹起性ミオトニー potassium-aggravated myotonia https://monarchinitiative.org/MONDO:0018959 NANDO:2201498 http://nanbyodata.jp/ontology/NANDO_2201498 限局性皮質異形成 Focal cortical dysplasia MONDO:0019009 http://www.w3.org/2004/02/skos/core#exactMatch 孤立性限局性皮質異形成 isolated focal cortical dysplasia https://monarchinitiative.org/MONDO:0019009 NANDO:2201322 http://nanbyodata.jp/ontology/NANDO_2201322 視神経脊髄炎 Neuromyelitis optica MONDO:0019100 http://www.w3.org/2004/02/skos/core#exactMatch 視神経脊髄炎 neuromyelitis optica https://monarchinitiative.org/MONDO:0019100 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 新生児・乳児期発症型若年性ポリポーシス juvenile polyposis of infancy https://monarchinitiative.org/MONDO:0019190 NANDO:2201445 http://nanbyodata.jp/ontology/NANDO_2201445 後天性全身性脂肪萎縮症 Acquired generalized lipodystrophy MONDO:0019193 http://www.w3.org/2004/02/skos/core#exactMatch 先天性全身性リポジストロフィー acquired generalized lipodystrophy https://monarchinitiative.org/MONDO:0019193 NANDO:2201362 http://nanbyodata.jp/ontology/NANDO_2201362 Astley-Kendall骨異形成症 Astley-Kendall dysplasia MONDO:0019408 http://www.w3.org/2004/02/skos/core#exactMatch Astley-Kendall骨異形成症 Astley-Kendall dysplasia https://monarchinitiative.org/MONDO:0019408 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 全身型若年性特発性関節炎 systemic-onset juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019434 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ALミロイドーシス AL amyloidosis https://monarchinitiative.org/MONDO:0019438 NANDO:1200698 http://nanbyodata.jp/ontology/NANDO_1200698 修正大血管転位症 Corrected transposition of great arteries MONDO:0019443 http://www.w3.org/2004/02/skos/core#exactMatch 修正大血管転位症 dextro-looped transposition of the great arteries https://monarchinitiative.org/MONDO:0019443 NANDO: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://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 https://monarchinitiative.org/MONDO:0019448 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://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 https://monarchinitiative.org/MONDO:0019485 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://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 https://monarchinitiative.org/MONDO:0019487 NANDO:1200941 http://nanbyodata.jp/ontology/NANDO_1200941 アッシャー症候群 Usher syndrome MONDO:0019501 http://www.w3.org/2004/02/skos/core#exactMatch アッシャー症候群 Usher syndrome https://monarchinitiative.org/MONDO:0019501 NANDO:1201000 http://nanbyodata.jp/ontology/NANDO_1201000 前眼部形成異常 Anterior segment dysgenesis MONDO:0019503 http://www.w3.org/2004/02/skos/core#exactMatch 前眼部形成不全 anterior segment dysgenesis https://monarchinitiative.org/MONDO:0019503 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 温式自己免疫性溶血性貧血 autoimmune hemolytic anemia, warm type https://monarchinitiative.org/MONDO:0019532 NANDO:1200308 http://nanbyodata.jp/ontology/NANDO_1200308 発作性寒冷ヘモグロビン尿症 Paroxysmal cold hemoglobinuria MONDO:0019533 http://www.w3.org/2004/02/skos/core#exactMatch 発作性寒冷ヘモグロビン尿症 paroxysmal cold hemoglobinuria https://monarchinitiative.org/MONDO:0019533 NANDO:1200309 http://nanbyodata.jp/ontology/NANDO_1200309 混合型自己免疫性溶血性貧血 Mixed-type autoimmune hemolytic anemia MONDO:0019534 http://www.w3.org/2004/02/skos/core#exactMatch 混合型自己免疫性溶血性貧血 mixed-type autoimmune hemolytic anemia https://monarchinitiative.org/MONDO:0019534 NANDO:1200608 http://nanbyodata.jp/ontology/NANDO_1200608 色素性乾皮症 Xeroderma pigmentosum MONDO:0019600 http://www.w3.org/2004/02/skos/core#exactMatch 色素性乾皮症 xeroderma pigmentosum https://monarchinitiative.org/MONDO:0019600 NANDO:1200760 http://nanbyodata.jp/ontology/NANDO_1200760 ツェルベーガー症候群 Zellweger syndrome MONDO:0019609 http://www.w3.org/2004/02/skos/core#exactMatch Zellweger症候群 Zellweger spectrum disorders https://monarchinitiative.org/MONDO:0019609 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://www.w3.org/2004/02/skos/core#exactMatch 下垂体性TSH分泌亢進症 TSH-secreting pituitary adenoma https://monarchinitiative.org/MONDO:0019611 NANDO:1200419 http://nanbyodata.jp/ontology/NANDO_1200419 非特異的間質性肺炎 Non-specific interstitial pneumonia MONDO:0019622 http://www.w3.org/2004/02/skos/core#exactMatch 非特異性間質性肺炎 non-specific interstitial pneumonia https://monarchinitiative.org/MONDO:0019622 NANDO:1200365 http://nanbyodata.jp/ontology/NANDO_1200365 遺伝性血管性浮腫 Hereditary angioedema MONDO:0019623 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性血管性浮腫 hereditary angioedema https://monarchinitiative.org/MONDO:0019623 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ビタミンD依存性くる病, 2型 vitamin D-dependent rickets, type 2 https://monarchinitiative.org/MONDO:0019642 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch AApoAIアミロイドーシス AApoAI amyloidosis https://monarchinitiative.org/MONDO:0019731 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 一次性膜性増殖性糸球体腎炎II型 dense deposit disease https://monarchinitiative.org/MONDO:0019736 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 後天性血栓性血小板減少性紫斑病 acquired thrombotic thrombocytopenic purpura https://monarchinitiative.org/MONDO:0019740 NANDO:2100156 http://nanbyodata.jp/ontology/NANDO_2100156 自己炎症性疾患 Autoinflammatory disease MONDO:0019751 http://www.w3.org/2004/02/skos/core#exactMatch 自己炎症性疾患 autoinflammatory syndrome https://monarchinitiative.org/MONDO:0019751 NANDO:1200509 http://nanbyodata.jp/ontology/NANDO_1200509 脊髄髄膜瘤 Myelomeningocele MONDO:0019773 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄髄膜瘤 myelomeningocele https://monarchinitiative.org/MONDO:0019773 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://www.w3.org/2004/02/skos/core#exactMatch 肝性骨髄性ポルフィリン症 hepatoerythropoietic porphyria https://monarchinitiative.org/MONDO:0019799 NANDO:1200246 http://nanbyodata.jp/ontology/NANDO_1200246 中毒性表皮壊死症 Toxic epidermal necrolysis MONDO:0019810 http://www.w3.org/2004/02/skos/core#exactMatch 中毒性表皮壊死症 toxic epidermal necrolysis https://monarchinitiative.org/MONDO:0019810 NANDO:1200477 http://nanbyodata.jp/ontology/NANDO_1200477 先天性ミオパチー Congenital myopathy MONDO:0019952 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオパチー congenital myopathy https://monarchinitiative.org/MONDO:0019952 NANDO:2100234 http://nanbyodata.jp/ontology/NANDO_2100234 先天性ミオパチー Congenital myopathy MONDO:0019952 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオパチー congenital myopathy https://monarchinitiative.org/MONDO:0019952 NANDO:1200776 http://nanbyodata.jp/ontology/NANDO_1200776 偽性副甲状腺機能低下症 Pseudohypoparathyroidism MONDO:0019992 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症 pseudohypoparathyroidism https://monarchinitiative.org/MONDO:0019992 NANDO:1200645 http://nanbyodata.jp/ontology/NANDO_1200645 エーラス・ダンロス症候群 Ehlers-Danlos Syndrome MONDO:0020066 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群 Ehlers-Danlos syndrome https://monarchinitiative.org/MONDO:0020066 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 進行性ミオクローヌスてんかん progressive myoclonus epilepsy https://monarchinitiative.org/MONDO:0020074 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 進行性ミオクローヌスてんかん progressive myoclonus epilepsy https://monarchinitiative.org/MONDO:0020074 NANDO:1200861 http://nanbyodata.jp/ontology/NANDO_1200861 家族性部分性脂肪萎縮症 Familial partial lipodystrophy 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 https://monarchinitiative.org/MONDO:0020088 NANDO:1200892 http://nanbyodata.jp/ontology/NANDO_1200892 遺伝性鉄芽球性貧血 Hereditary sideroblastic anemia MONDO:0020099 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性鉄芽球性貧血 inherited sideroblastic anemia https://monarchinitiative.org/MONDO:0020099 NANDO:1200305 http://nanbyodata.jp/ontology/NANDO_1200305 自己免疫性溶血性貧血 Autoimmune hemolytic anemia MONDO:0020108 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性溶血性貧血 autoimmune hemolytic anemia https://monarchinitiative.org/MONDO:0020108 NANDO:2100181 http://nanbyodata.jp/ontology/NANDO_2100181 自己免疫性溶血性貧血 Autoimmune hemolytic anemia MONDO:0020108 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性溶血性貧血 autoimmune hemolytic anemia https://monarchinitiative.org/MONDO:0020108 NANDO:1200486 http://nanbyodata.jp/ontology/NANDO_1200486 筋ジストロフィー Muscular dystrophy MONDO:0020121 http://www.w3.org/2004/02/skos/core#exactMatch 筋ジストロフィー muscular dystrophy https://monarchinitiative.org/MONDO:0020121 NANDO:2100233 http://nanbyodata.jp/ontology/NANDO_2100233 筋ジストロフィー Muscular dystrophy MONDO:0020121 http://www.w3.org/2004/02/skos/core#exactMatch 筋ジストロフィー muscular dystrophy https://monarchinitiative.org/MONDO:0020121 NANDO:1200931 http://nanbyodata.jp/ontology/NANDO_1200931 黄斑ジストロフィー Macular dystrophy MONDO:0020242 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性黄斑ジストロフィー hereditary macular dystrophy https://monarchinitiative.org/MONDO:0020242 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://www.w3.org/2004/02/skos/core#exactMatch 成熟を伴う急性骨髄性白血病 acute myeloblastic leukemia with maturation https://monarchinitiative.org/MONDO:0020320 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 先天性赤血球形成異常性貧血I型 congenital dyserythropoietic anemia type 1 https://monarchinitiative.org/MONDO:0020337 NANDO:1200889 http://nanbyodata.jp/ontology/NANDO_1200889 後天性赤芽球癆 Acquired pure red cell aplasia MONDO:0020338 http://www.w3.org/2004/02/skos/core#exactMatch 後天性赤芽球癆 adult pure red cell aplasia https://monarchinitiative.org/MONDO:0020338 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 脳室周囲結節状異所性灰白質 periventricular nodular heterotopia https://monarchinitiative.org/MONDO:0020341 NANDO:1200036 http://nanbyodata.jp/ontology/NANDO_1200036 MSA-P Multiple system atrophy, Parkinsonian type MONDO:0020352 http://www.w3.org/2004/02/skos/core#exactMatch MSA-P multiple system atrophy, parkinsonian type https://monarchinitiative.org/MONDO:0020352 NANDO:1200963 http://nanbyodata.jp/ontology/NANDO_1200963 先天性僧帽弁狭窄症 Congenital mitral stenosis MONDO:0020398 http://www.w3.org/2004/02/skos/core#exactMatch 先天性僧帽弁狭窄症 congenital mitral stenosis https://monarchinitiative.org/MONDO:0020398 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 後天性フォンウィルブランド病 acquired von willebrand syndrome https://monarchinitiative.org/MONDO:0020460 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 海馬硬化を伴う内側側頭葉てんかん mesial temporal lobe epilepsy with hippocampal sclerosis https://monarchinitiative.org/MONDO:0020476 NANDO:1201070 http://nanbyodata.jp/ontology/NANDO_1201070 皮質下帯状異所性灰白質 Subcortical band heterotopia MONDO:0020491 http://www.w3.org/2004/02/skos/core#exactMatch 皮質下帯状異所性灰白質 subcortical band heterotopia https://monarchinitiative.org/MONDO:0020491 NANDO:1200563 http://nanbyodata.jp/ontology/NANDO_1200563 片側巨脳症 Hemimegalencephaly MONDO:0020492 http://www.w3.org/2004/02/skos/core#exactMatch 片側巨脳症 hemimegalencephaly https://monarchinitiative.org/MONDO:0020492 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://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 https://monarchinitiative.org/MONDO:0020511 NANDO:1200896 http://nanbyodata.jp/ontology/NANDO_1200896 自己免疫性後天性凝固因子欠乏症 Autoimmune acquired coagulation factor deficiency MONDO:0020599 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性後天性凝固因子欠乏症 acquired coagulation factor deficiency https://monarchinitiative.org/MONDO:0020599 NANDO:1200630 http://nanbyodata.jp/ontology/NANDO_1200630 Conradi-Hünermann-Happle 症候群 Conradi Hünermann Happle syndrome MONDO:0020603 http://www.w3.org/2004/02/skos/core#exactMatch X連鎖性点状軟骨異形成症2型 X-linked chondrodysplasia punctata 2 https://monarchinitiative.org/MONDO:0020603 NANDO:1200367 http://nanbyodata.jp/ontology/NANDO_1200367 多発性嚢胞腎 Polycystic kidney disease MONDO:0020642 http://www.w3.org/2004/02/skos/core#exactMatch 多発性嚢胞腎 polycystic kidney disease https://monarchinitiative.org/MONDO:0020642 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://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 https://monarchinitiative.org/MONDO:0020702 NANDO:1201092 http://nanbyodata.jp/ontology/NANDO_1201092 ビタミンD依存症 1A型 Vitamin D-dependent rickets, type 1A MONDO:0020723 http://www.w3.org/2004/02/skos/core#exactMatch ビタミンD依存性くる病1A型 vitamin D-dependent rickets, type 1A https://monarchinitiative.org/MONDO:0020723 NANDO:1200225 http://nanbyodata.jp/ontology/NANDO_1200225 神経線維腫症 Neurofibromatosis MONDO:0021061 http://www.w3.org/2004/02/skos/core#exactMatch 神経線維腫症 neurofibromatosis https://monarchinitiative.org/MONDO:0021061 NANDO:2100204 http://nanbyodata.jp/ontology/NANDO_2100204 免疫不全を伴う特徴的な症候群 Immunodeficiency MONDO:0021094 http://www.w3.org/2004/02/skos/core#exactMatch 免疫不全症 immunodeficiency disease https://monarchinitiative.org/MONDO:0021094 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://www.w3.org/2004/02/skos/core#exactMatch 後天性第XIII因子欠乏症 acquired factor XIII deficiency https://monarchinitiative.org/MONDO:0021133 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://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性後天性凝固第X因子欠乏症 acquired factor X deficiency https://monarchinitiative.org/MONDO:0021134 NANDO:1200240 http://nanbyodata.jp/ontology/NANDO_1200240 膿疱性乾癬（汎発型） Pustular psoriasis MONDO:0022205 http://www.w3.org/2004/02/skos/core#exactMatch 膿疱性乾癬 pustular psoriasis https://monarchinitiative.org/MONDO:0022205 NANDO:1200011 http://nanbyodata.jp/ontology/NANDO_1200011 大脳皮質基底核変性症 Corticobasal degeneration MONDO:0022308 http://www.w3.org/2004/02/skos/core#exactMatch 大脳皮質基底核変性症 corticobasal degeneration disorder https://monarchinitiative.org/MONDO:0022308 NANDO:2100295 http://nanbyodata.jp/ontology/NANDO_2100295 脈管奇形 Vascular malformation MONDO:0024291 http://www.w3.org/2004/02/skos/core#exactMatch 血管奇形 vascular malformation https://monarchinitiative.org/MONDO:0024291 NANDO:1200781 http://nanbyodata.jp/ontology/NANDO_1200781 ビタミンD依存性くる病/骨軟化症 Vitamin D-dependent rickets / Osteomalacia MONDO:0024299 http://www.w3.org/2004/02/skos/core#exactMatch ビタミンＤ依存性くる病 vitamin D-dependent rickets https://monarchinitiative.org/MONDO:0024299 NANDO:1200643 http://nanbyodata.jp/ontology/NANDO_1200643 弾性線維性仮性黄色腫 Pseudoxanthoma elasticum MONDO:0024308 http://www.w3.org/2004/02/skos/core#exactMatch 弾性線維性仮性黄色腫 pseudoxanthoma elasticum (inherited or acquired) https://monarchinitiative.org/MONDO:0024308 NANDO:2100023 http://nanbyodata.jp/ontology/NANDO_2100023 慢性腎不全 Chronic renal failure MONDO:0024327 http://www.w3.org/2004/02/skos/core#exactMatch 慢性腎不全 chronic renal failure syndrome https://monarchinitiative.org/MONDO:0024327 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://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 https://monarchinitiative.org/MONDO:0024457 NANDO:1200208 http://nanbyodata.jp/ontology/NANDO_1200208 家族性特発性基底核石灰化症 Familial idiopathic basal ganglia calcification MONDO:0024538 http://www.w3.org/2004/02/skos/core#exactMatch 基底核石灰化症, 特発性, 1 basal ganglia calcification, idiopathic, 1 https://monarchinitiative.org/MONDO:0024538 NANDO:1200219 http://nanbyodata.jp/ontology/NANDO_1200219 眼咽頭遠位型ミオパチー Oculopharyngodistal myopathy MONDO:0025193 http://www.w3.org/2004/02/skos/core#exactMatch 眼咽頭遠位型ミオパチー oculopharyngodistal myopathy https://monarchinitiative.org/MONDO:0025193 NANDO:1201094 http://nanbyodata.jp/ontology/NANDO_1201094 ビタミンD依存症 3型 Vitamin D-dependent rickets, type 3 MONDO:0033640 http://www.w3.org/2004/02/skos/core#exactMatch ビタミンD依存性くる病, 3型 vitamin D-dependent rickets, type 3 https://monarchinitiative.org/MONDO:0033640 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://www.w3.org/2004/02/skos/core#exactMatch 医原性クロイツフェルト・ヤコブ病 iatrogenic Creutzfeldt-Jakob disease https://monarchinitiative.org/MONDO:0034976 NANDO:2100164 http://nanbyodata.jp/ontology/NANDO_2100164 糖質代謝異常症 Disorder of carbohydrate metabolism MONDO:0037792 http://www.w3.org/2004/02/skos/core#exactMatch 糖質代謝異常症 carbohydrate metabolism disease https://monarchinitiative.org/MONDO:0037792 NANDO:2100162 http://nanbyodata.jp/ontology/NANDO_2100162 脂肪酸代謝異常症 Disorder of fatty-acid metabolism MONDO:0037858 http://www.w3.org/2004/02/skos/core#exactMatch 脂肪酸代謝異常 inherited fatty acid metabolism disorder https://monarchinitiative.org/MONDO:0037858 NANDO:2100160 http://nanbyodata.jp/ontology/NANDO_2100160 アミノ酸代謝異常症 Disorder of amino acid metabolism MONDO:0037871 http://www.w3.org/2004/02/skos/core#exactMatch アミノ酸代謝異常症 amino acid metabolism disease https://monarchinitiative.org/MONDO:0037871 NANDO:1200811 http://nanbyodata.jp/ontology/NANDO_1200811 ポルフィリン症 Porphyria MONDO:0037939 http://www.w3.org/2004/02/skos/core#exactMatch ポルフィリン症 porphyria https://monarchinitiative.org/MONDO:0037939 NANDO:2100220 http://nanbyodata.jp/ontology/NANDO_2100220 神経皮膚症候群 Neurocutaneous syndrome MONDO:0042983 http://www.w3.org/2004/02/skos/core#exactMatch 神経皮膚症候群 neurocutaneous syndrome https://monarchinitiative.org/MONDO:0042983 NANDO:1200628 http://nanbyodata.jp/ontology/NANDO_1200628 毛包性魚鱗癬 Ichthyosis follicularis MONDO:0043094 http://www.w3.org/2004/02/skos/core#exactMatch 毛包性魚鱗癬 ichthyosis, follicular https://monarchinitiative.org/MONDO:0043094 NANDO:1200265 http://nanbyodata.jp/ontology/NANDO_1200265 悪性関節リウマチ Rheumatoid vasculitis MONDO:0043267 http://www.w3.org/2004/02/skos/core#exactMatch 悪性関節リウマチ rheumatoid vasculitis https://monarchinitiative.org/MONDO:0043267 NANDO:1200275 http://nanbyodata.jp/ontology/NANDO_1200275 無筋症性皮膚筋炎 Amyopathic dermatomyositis MONDO:0043317 http://www.w3.org/2004/02/skos/core#exactMatch 無筋炎型皮膚筋炎 amyopathic dermatomyositis https://monarchinitiative.org/MONDO:0043317 NANDO:2100188 http://nanbyodata.jp/ontology/NANDO_2100188 血小板減少性紫斑病 Thrombocytopenic purpura MONDO:0043768 http://www.w3.org/2004/02/skos/core#exactMatch 血小板減少性紫斑病 thrombocytopenic purpura https://monarchinitiative.org/MONDO:0043768 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://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 https://monarchinitiative.org/MONDO:0044742 NANDO:1200511 http://nanbyodata.jp/ontology/NANDO_1200511 遺伝性ジストニア Hereditary dystonia MONDO:0044807 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性ジストニア inherited dystonia https://monarchinitiative.org/MONDO:0044807 NANDO:1200173 http://nanbyodata.jp/ontology/NANDO_1200173 ミトコンドリア病 Mitochondrial diseases MONDO:0044970 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア病 mitochondrial disease https://monarchinitiative.org/MONDO:0044970 NANDO:2100163 http://nanbyodata.jp/ontology/NANDO_2100163 ミトコンドリア病 Mitochondrial diseases MONDO:0044970 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア病 mitochondrial disease https://monarchinitiative.org/MONDO:0044970 NANDO:2100301 http://nanbyodata.jp/ontology/NANDO_2100301 糖蛋白代謝障害 Disorders of glycoprotein metabolism MONDO:0045010 http://www.w3.org/2004/02/skos/core#exactMatch 糖タンパク代謝障害 glycoprotein metabolism disease https://monarchinitiative.org/MONDO:0045010 NANDO:2100161 http://nanbyodata.jp/ontology/NANDO_2100161 有機酸代謝異常症 Disorder of organic acid metabolism MONDO:0045022 http://www.w3.org/2004/02/skos/core#exactMatch 有機酸代謝異常症 disorder of organic acid metabolism https://monarchinitiative.org/MONDO:0045022 NANDO:1200346 http://nanbyodata.jp/ontology/NANDO_1200346 IgGサブクラス欠損症 IgG subclass deficiency MONDO:0045045 http://www.w3.org/2004/02/skos/core#exactMatch IgGサブクラス欠損症 selective IgG immunodeficiency https://monarchinitiative.org/MONDO:0045045 NANDO:1200593 http://nanbyodata.jp/ontology/NANDO_1200593 大田原症候群 Ohtahara syndrome MONDO:0100062 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性発達性およびてんかん性脳症 genetic developmental and epileptic encephalopathy https://monarchinitiative.org/MONDO:0100062 NANDO:1200180 http://nanbyodata.jp/ontology/NANDO_1200180 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100133 http://www.w3.org/2004/02/skos/core#exactMatch ミトコンドリア複合体I欠損症 mitochondrial complex I deficiency https://monarchinitiative.org/MONDO:0100133 NANDO:1200587 http://nanbyodata.jp/ontology/NANDO_1200587 ドラベ症候群 Dravet syndrome MONDO:0100135 http://www.w3.org/2004/02/skos/core#exactMatch ドラベ症候群 Dravet syndrome https://monarchinitiative.org/MONDO:0100135 NANDO:1200162 http://nanbyodata.jp/ontology/NANDO_1200162 腎型シスチン症 Nephropathic cystinosis MONDO:0100151 http://www.w3.org/2004/02/skos/core#exactMatch 腎型シスチン症 nephropathic cystinosis https://monarchinitiative.org/MONDO:0100151 NANDO:1200997 http://nanbyodata.jp/ontology/NANDO_1200997 A20ハプロ不全症 A20 haploinsufficiency MONDO:0100222 http://www.w3.org/2004/02/skos/core#exactMatch A20ハプロ不全症 A20 haploinsufficiency https://monarchinitiative.org/MONDO:0100222 NANDO:1201084 http://nanbyodata.jp/ontology/NANDO_1201084 酸性スフィンゴミエリナーゼ欠損症 Acid sphingomyelinase deficiency MONDO:0100464 http://www.w3.org/2004/02/skos/core#exactMatch 酸性スフィンゴミエリナーゼ欠損症 acid sphingomyelinase deficiency https://monarchinitiative.org/MONDO:0100464 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://www.w3.org/2004/02/skos/core#exactMatch 全身型若年性特発性関節炎 systemic-onset juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019434 NANDO:2201058 http://nanbyodata.jp/ontology/NANDO_2201058 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://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎（リウマトイド因子陽性多関節炎） rheumatoid factor-positive polyarticular juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019435 NANDO:2201060 http://nanbyodata.jp/ontology/NANDO_2201060 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://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 https://monarchinitiative.org/MONDO:0019437 NANDO:2200012 http://nanbyodata.jp/ontology/NANDO_2200012 NK細胞白血病 NK cell leukemia MONDO:0019470 http://www.w3.org/2004/02/skos/core#exactMatch 活動性NK細胞白血病 aggressive NK-cell leukemia https://monarchinitiative.org/MONDO:0019470 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://www.w3.org/2004/02/skos/core#exactMatch 節外性NK/T細胞リンパ腫-鼻型 extranodal nasal NK/T cell lymphoma https://monarchinitiative.org/MONDO:0019472 NANDO:2200030 http://nanbyodata.jp/ontology/NANDO_2200030 皮下脂肪織炎様T細胞リンパ腫 Sucutaneous panniculitis-like T-cell lymphoma 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 https://monarchinitiative.org/MONDO:0019475 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://www.w3.org/2004/02/skos/core#exactMatch ランゲルハンス細胞肉腫 Langerhans cell sarcoma https://monarchinitiative.org/MONDO:0019480 NANDO:2200410 http://nanbyodata.jp/ontology/NANDO_2200410 ターナー症候群 Turner syndrome MONDO:0019499 http://www.w3.org/2004/02/skos/core#exactMatch ターナー症候群 Turner syndrome https://monarchinitiative.org/MONDO:0019499 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 発作性寒冷ヘモグロビン尿症 paroxysmal cold hemoglobinuria https://monarchinitiative.org/MONDO:0019533 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 志賀毒素関連溶血性尿毒症症候群 Shiga toxin-associated hemolytic uremic syndrome https://monarchinitiative.org/MONDO:0019536 NANDO:2201002 http://nanbyodata.jp/ontology/NANDO_2201002 色素性乾皮症 Xeroderma pigmentosum MONDO:0019600 http://www.w3.org/2004/02/skos/core#exactMatch 色素性乾皮症 xeroderma pigmentosum https://monarchinitiative.org/MONDO:0019600 NANDO:2201061 http://nanbyodata.jp/ontology/NANDO_2201061 若年性特発性関節炎（分類不能関節炎） Unclassifiable Juvenile idiopathic arthritis MONDO:0019607 http://www.w3.org/2004/02/skos/core#exactMatch 若年性特発性関節炎（分類不能関節炎） unspecified juvenile idiopathic arthritis https://monarchinitiative.org/MONDO:0019607 NANDO:2200795 http://nanbyodata.jp/ontology/NANDO_2200795 遺伝性血管性浮腫 Hereditary angioedema MONDO:0019623 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性血管性浮腫 hereditary angioedema https://monarchinitiative.org/MONDO:0019623 NANDO:2200155 http://nanbyodata.jp/ontology/NANDO_2200155 低形成腎 Hypoplastic kidney MONDO:0019637 http://www.w3.org/2004/02/skos/core#exactMatch 腎低形成 renal hypoplasia https://monarchinitiative.org/MONDO:0019637 NANDO:2200161 http://nanbyodata.jp/ontology/NANDO_2200161 腎異形成 Renal dysplasia MONDO:0019638 http://www.w3.org/2004/02/skos/core#exactMatch 腎異形成 renal dysplasia https://monarchinitiative.org/MONDO:0019638 NANDO:2200177 http://nanbyodata.jp/ontology/NANDO_2200177 巨大腎杯症 Megacalycosis MONDO:0019639 http://www.w3.org/2004/02/skos/core#exactMatch 巨大腎杯症 congenital megacalycosis https://monarchinitiative.org/MONDO:0019639 NANDO:2200111 http://nanbyodata.jp/ontology/NANDO_2200111 びまん性メサンギウム硬化症 Diffuse mesangial sclerosis MONDO:0019654 http://www.w3.org/2004/02/skos/core#exactMatch びまん性メサンギウム硬化を伴う家族性特発性ステロイド抵抗性ネフローゼ症候群 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis https://monarchinitiative.org/MONDO:0019654 NANDO:2201346 http://nanbyodata.jp/ontology/NANDO_2201346 軟骨低発生症 Hypochondrogenesis MONDO:0019669 http://www.w3.org/2004/02/skos/core#exactMatch 軟骨低発生症 hypochondrogenesis https://monarchinitiative.org/MONDO:0019669 NANDO:2201017 http://nanbyodata.jp/ontology/NANDO_2201017 点状軟骨異形成症 Chondrodysplasia punctata MONDO:0019701 http://www.w3.org/2004/02/skos/core#exactMatch 点状軟骨異形成症 chondrodysplasia punctata https://monarchinitiative.org/MONDO:0019701 NANDO:2200419 http://nanbyodata.jp/ontology/NANDO_2200419 若年性多発性筋炎 Juvenile polymyositis MONDO:0019734 http://www.w3.org/2004/02/skos/core#exactMatch 若年性多発性筋炎 juvenile polymyositis https://monarchinitiative.org/MONDO:0019734 NANDO:2200814 http://nanbyodata.jp/ontology/NANDO_2200814 脊髄髄膜瘤 Myelomeningocele MONDO:0019773 http://www.w3.org/2004/02/skos/core#exactMatch 脊髄髄膜瘤 myelomeningocele https://monarchinitiative.org/MONDO:0019773 NANDO:2200923 http://nanbyodata.jp/ontology/NANDO_2200923 自己免疫性腸症 Autoimmune enteropathy MONDO:0019787 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫性腸症 autoimmune enteropathy https://monarchinitiative.org/MONDO:0019787 NANDO:2201270 http://nanbyodata.jp/ontology/NANDO_2201270 肝性骨髄性ポルフィリン症 Hepatoerythropoietic porphyria MONDO:0019799 http://www.w3.org/2004/02/skos/core#exactMatch 肝性骨髄性ポルフィリン症 hepatoerythropoietic porphyria https://monarchinitiative.org/MONDO:0019799 NANDO:2200195 http://nanbyodata.jp/ontology/NANDO_2200195 気管軟化症 Tracheomalacia MONDO:0019804 http://www.w3.org/2004/02/skos/core#exactMatch 先天性気管軟化症 congenital tracheomalacia https://monarchinitiative.org/MONDO:0019804 NANDO:2201007 http://nanbyodata.jp/ontology/NANDO_2201007 中毒性表皮壊死症 Toxic epidermal necrolysis MONDO:0019810 http://www.w3.org/2004/02/skos/core#exactMatch 中毒性表皮壊死症 toxic epidermal necrolysis https://monarchinitiative.org/MONDO:0019810 NANDO:2200313 http://nanbyodata.jp/ontology/NANDO_2200313 後天性下垂体機能低下症 Acquired hypopituitarism MONDO:0019832 http://www.w3.org/2004/02/skos/core#exactMatch 後天性下垂体ホルモン欠損症 acquired pituitary hormone deficiency https://monarchinitiative.org/MONDO:0019832 NANDO:2200330 http://nanbyodata.jp/ontology/NANDO_2200330 異所性甲状腺 Ectoic thyroid MONDO:0019854 http://www.w3.org/2004/02/skos/core#exactMatch 異所性甲状腺 thyroid ectopia https://monarchinitiative.org/MONDO:0019854 NANDO:2200331 http://nanbyodata.jp/ontology/NANDO_2200331 無甲状腺症 Thyroid agenesis MONDO:0019855 http://www.w3.org/2004/02/skos/core#exactMatch 無甲状腺症 athyreosis https://monarchinitiative.org/MONDO:0019855 NANDO:2200315 http://nanbyodata.jp/ontology/NANDO_2200315 先端巨大症 Acromegaly MONDO:0019933 http://www.w3.org/2004/02/skos/core#exactMatch 先端巨大症 acromegaly https://monarchinitiative.org/MONDO:0019933 NANDO:2200875 http://nanbyodata.jp/ontology/NANDO_2200875 還元小体ミオパチー Reducing body myopathy MONDO:0019948 http://www.w3.org/2004/02/skos/core#exactMatch 還元小体ミオパチー reducing body myopathy https://monarchinitiative.org/MONDO:0019948 NANDO:2200397 http://nanbyodata.jp/ontology/NANDO_2200397 グルカゴノーマ Glucagonoma MONDO:0019959 http://www.w3.org/2004/02/skos/core#exactMatch グルカゴノーマ glucagonoma https://monarchinitiative.org/MONDO:0019959 NANDO:2200394 http://nanbyodata.jp/ontology/NANDO_2200394 VIP産生腫瘍 Vipoma MONDO:0019960 http://www.w3.org/2004/02/skos/core#exactMatch VIP産生腫瘍 VIPoma https://monarchinitiative.org/MONDO:0019960 NANDO:2200171 http://nanbyodata.jp/ontology/NANDO_2200171 多房性腎嚢胞 Multilocular cysts of the kidney MONDO:0019983 http://www.w3.org/2004/02/skos/core#exactMatch 多房性腎嚢胞 multiloculated renal cyst https://monarchinitiative.org/MONDO:0019983 NANDO:2200349 http://nanbyodata.jp/ontology/NANDO_2200349 偽性副甲状腺機能低下症 Pseudohypoparathyroidism MONDO:0019992 http://www.w3.org/2004/02/skos/core#exactMatch 偽性副甲状腺機能低下症 pseudohypoparathyroidism https://monarchinitiative.org/MONDO:0019992 NANDO:2200282 http://nanbyodata.jp/ontology/NANDO_2200282 一側肺動脈欠損 Unilateral absence of a pulmonary artery MONDO:0020007 http://www.w3.org/2004/02/skos/core#exactMatch 一側肺動脈欠損 absence of the pulmonary artery https://monarchinitiative.org/MONDO:0020007 NANDO:2200118 http://nanbyodata.jp/ontology/NANDO_2200118 中枢神経奇形症候群 Central nervous system malformation syndrome MONDO:0020022 http://www.w3.org/2004/02/skos/core#exactMatch 中枢神経奇形症候群 central nervous system malformation https://monarchinitiative.org/MONDO:0020022 NANDO:2200393 http://nanbyodata.jp/ontology/NANDO_2200393 46,XX性分化疾患 Disorders of sex development of 46,XX MONDO:0020040 http://www.w3.org/2004/02/skos/core#exactMatch 46,XY性分化疾患 46,XY disorder of sex development https://monarchinitiative.org/MONDO:0020040 NANDO:2200280 http://nanbyodata.jp/ontology/NANDO_2200280 肺動脈弁欠損 Absent pulmonary valve MONDO:0020064 http://www.w3.org/2004/02/skos/core#exactMatch 肺動脈弁欠損 pulmonary valve agenesis https://monarchinitiative.org/MONDO:0020064 NANDO:2200607 http://nanbyodata.jp/ontology/NANDO_2200607 エーラス・ダンロス症候群 Ehlers-Danlos syndrome MONDO:0020066 http://www.w3.org/2004/02/skos/core#exactMatch エーラス・ダンロス症候群 Ehlers-Danlos syndrome https://monarchinitiative.org/MONDO:0020066 NANDO:2200623 http://nanbyodata.jp/ontology/NANDO_2200623 口唇赤血球症 Hereditary stomatocytosis MONDO:0020102 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性口唇赤血球症 hereditary stomatocytosis https://monarchinitiative.org/MONDO:0020102 NANDO:2200014 http://nanbyodata.jp/ontology/NANDO_2200014 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0020311 http://www.w3.org/2004/02/skos/core#exactMatch 慢性骨髄単球性白血病 chronic myelomonocytic leukemia https://monarchinitiative.org/MONDO:0020311 NANDO:2200017 http://nanbyodata.jp/ontology/NANDO_2200017 急性未分化型白血病 Acute undifferentiated leukemia MONDO:0020321 http://www.w3.org/2004/02/skos/core#exactMatch 急性未分化型白血病 acute undifferentiated leukemia https://monarchinitiative.org/MONDO:0020321 NANDO:2200021 http://nanbyodata.jp/ontology/NANDO_2200021 未分化大細胞リンパ腫 Anaplastic large cell lymphoma MONDO:0020325 http://www.w3.org/2004/02/skos/core#exactMatch 未分化大細胞リンパ腫 anaplastic large cell lymphoma https://monarchinitiative.org/MONDO:0020325 NANDO:2200613 http://nanbyodata.jp/ontology/NANDO_2200613 後天性赤芽球癆 Acquired pure red cell aplasia MONDO:0020338 http://www.w3.org/2004/02/skos/core#exactMatch 後天性赤芽球癆 adult pure red cell aplasia https://monarchinitiative.org/MONDO:0020338 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 肺動脈上行大動脈起始症 pulmonary artery coming from the aorta https://monarchinitiative.org/MONDO:0020391 NANDO:2200308 http://nanbyodata.jp/ontology/NANDO_2200308 僧帽弁弁上輪 Supramitral ring MONDO:0020400 http://www.w3.org/2004/02/skos/core#exactMatch 先天性僧帽弁弁上輪 congenital supravalvular mitral ring https://monarchinitiative.org/MONDO:0020400 NANDO:2200290 http://nanbyodata.jp/ontology/NANDO_2200290 重複大動脈弓症 Double aortic arch disease MONDO:0020413 http://www.w3.org/2004/02/skos/core#exactMatch 重複大動脈弓症 encircling double aortic arch https://monarchinitiative.org/MONDO:0020413 NANDO:2200274 http://nanbyodata.jp/ontology/NANDO_2200274 左室右房交通症 Left ventricular-right atrial communication MONDO:0020428 http://www.w3.org/2004/02/skos/core#exactMatch 左室右房交通症 congenital Gerbode defect https://monarchinitiative.org/MONDO:0020428 NANDO:2200266 http://nanbyodata.jp/ontology/NANDO_2200266 二次孔型心房中隔欠損症 Atrial septal defect, ostium secundum type 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 https://monarchinitiative.org/MONDO:0020434 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://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 https://monarchinitiative.org/MONDO:0020436 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://www.w3.org/2004/02/skos/core#exactMatch 部分肺静脈還流異常症 congenital partial pulmonary venous return anomaly https://monarchinitiative.org/MONDO:0020453 NANDO:2200625 http://nanbyodata.jp/ontology/NANDO_2200625 不安定ヘモグロビン症 Unstable hemoglobin disease MONDO:0020459 http://www.w3.org/2004/02/skos/core#exactMatch 不安定ヘモグロビン症 unstable hemoglobin disease https://monarchinitiative.org/MONDO:0020459 NANDO:2200314 http://nanbyodata.jp/ontology/NANDO_2200314 下垂体性巨人症 Pituitary gigantism MONDO:0020479 http://www.w3.org/2004/02/skos/core#exactMatch 下垂体性巨人症 pituitary gigantism https://monarchinitiative.org/MONDO:0020479 NANDO:2200812 http://nanbyodata.jp/ontology/NANDO_2200812 慢性移植片対宿主病 Chronic graft-versus-host disease MONDO:0020547 http://www.w3.org/2004/02/skos/core#exactMatch 慢性移植片対宿主病 chronic graft versus host disease https://monarchinitiative.org/MONDO:0020547 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 異型奇形腫瘍/ラブドイド腫瘍 atypical teratoid rhabdoid tumor https://monarchinitiative.org/MONDO:0020560 NANDO:2200674 http://nanbyodata.jp/ontology/NANDO_2200674 第V因子欠乏症 Factor V deficiency MONDO:0020586 http://www.w3.org/2004/02/skos/core#exactMatch 第V因子欠乏症 factor V deficiency https://monarchinitiative.org/MONDO:0020586 NANDO:2200679 http://nanbyodata.jp/ontology/NANDO_2200679 第XI因子欠乏症 Factor XI deficiency MONDO:0020587 http://www.w3.org/2004/02/skos/core#exactMatch 第XI因子欠乏症 factor XI deficiency https://monarchinitiative.org/MONDO:0020587 NANDO:2200902 http://nanbyodata.jp/ontology/NANDO_2200902 自己免疫介在性脳炎・脳症 Autoimmune encephalitis MONDO:0020640 http://www.w3.org/2004/02/skos/core#exactMatch 自己免疫介在性脳炎・脳症 autoimmune encephalitis https://monarchinitiative.org/MONDO:0020640 NANDO:2200152 http://nanbyodata.jp/ontology/NANDO_2200152 多発性嚢胞腎 Polycystic kidney disease MONDO:0020642 http://www.w3.org/2004/02/skos/core#exactMatch 多発性嚢胞腎 polycystic kidney disease https://monarchinitiative.org/MONDO:0020642 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://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 https://monarchinitiative.org/MONDO:0020702 NANDO:2200018 http://nanbyodata.jp/ontology/NANDO_2200018 混合型急性白血病 Mixed phenotype acute leukemia MONDO:0020743 http://www.w3.org/2004/02/skos/core#exactMatch 混合型急性白血病 mixed phenotype acute leukemia https://monarchinitiative.org/MONDO:0020743 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch 古典的家族性腺腫性ポリポーシス classic familial adenomatous polyposis https://monarchinitiative.org/MONDO:0021055 NANDO:2201317 http://nanbyodata.jp/ontology/NANDO_2201317 抗NMDA受容体脳炎 Anti-NMDA receptor encephalitis MONDO:0021081 http://www.w3.org/2004/02/skos/core#exactMatch 抗NMDA受容体脳炎 anti-NMDA receptor encephalitis https://monarchinitiative.org/MONDO:0021081 NANDO:2200236 http://nanbyodata.jp/ontology/NANDO_2200236 心臓腫瘍 Cardiac tumor MONDO:0021209 http://www.w3.org/2004/02/skos/core#exactMatch 心臓腫瘍 heart neoplasm https://monarchinitiative.org/MONDO:0021209 NANDO:2200262 http://nanbyodata.jp/ontology/NANDO_2200262 大動脈肺動脈窓 Aorto-pulmonary window MONDO:0021902 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈肺動脈窓 aortopulmonary window https://monarchinitiative.org/MONDO:0021902 NANDO:2201001 http://nanbyodata.jp/ontology/NANDO_2201001 膿疱性乾癬（汎発型） Pustular psoriasis MONDO:0022205 http://www.w3.org/2004/02/skos/core#exactMatch 膿疱性乾癬 pustular psoriasis https://monarchinitiative.org/MONDO:0022205 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://www.w3.org/2004/02/skos/core#exactMatch 2型コラーゲン異常症関連疾患 type 2 collagenopathy https://monarchinitiative.org/MONDO:0022800 NANDO:2200471 http://nanbyodata.jp/ontology/NANDO_2200471 高プロリン血症 Hyperprolinemia MONDO:0023419 http://www.w3.org/2004/02/skos/core#exactMatch 高プロリン血症 hyperprolinemia https://monarchinitiative.org/MONDO:0023419 NANDO:2200401 http://nanbyodata.jp/ontology/NANDO_2200401 ビタミンD依存性くる病 Vitamin D-dependent rickets MONDO:0024299 http://www.w3.org/2004/02/skos/core#exactMatch ビタミンＤ依存性くる病 vitamin D-dependent rickets https://monarchinitiative.org/MONDO:0024299 NANDO:2200841 http://nanbyodata.jp/ontology/NANDO_2200841 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:0024321 http://www.w3.org/2004/02/skos/core#exactMatch 先天性グリコシルホスファチジルイノシトール欠損症 disorder of GPI anchor biosynthesis https://monarchinitiative.org/MONDO:0024321 NANDO:2200682 http://nanbyodata.jp/ontology/NANDO_2200682 フォンウィルブランド病 Von Willebrand disease MONDO:0024574 http://www.w3.org/2004/02/skos/core#exactMatch フォンウィルブランド病（遺伝性または後天性） von Willebrand disease (hereditary or acquired) https://monarchinitiative.org/MONDO:0024574 NANDO:2200398 http://nanbyodata.jp/ontology/NANDO_2200398 インスリノーマ Insulinoma MONDO:0024677 http://www.w3.org/2004/02/skos/core#exactMatch インスリノーマ pancreatic insulinoma https://monarchinitiative.org/MONDO:0024677 NANDO:2200106 http://nanbyodata.jp/ontology/NANDO_2200106 未成熟奇形腫 Immature teratoma MONDO:0024746 http://www.w3.org/2004/02/skos/core#exactMatch 未成熟奇形腫 immature teratoma https://monarchinitiative.org/MONDO:0024746 NANDO:2200816 http://nanbyodata.jp/ontology/NANDO_2200816 仙尾部奇形腫 Sacrococcygeal teratoma MONDO:0042727 http://www.w3.org/2004/02/skos/core#exactMatch 仙尾部奇形腫 sacrococcygeal teratoma https://monarchinitiative.org/MONDO:0042727 NANDO:2200306 http://nanbyodata.jp/ontology/NANDO_2200306 大動脈弁狭窄症 Aortic valve stenosis MONDO:0042981 http://www.w3.org/2004/02/skos/core#exactMatch 大動脈弁狭窄症 aortic valve stenosis https://monarchinitiative.org/MONDO:0042981 NANDO:2201057 http://nanbyodata.jp/ontology/NANDO_2201057 若年性特発性関節炎（リウマトイド因子陰性多関節炎） Rheumatoid factor-negative juvenile idiopathic arthritis MONDO:0043152 http://www.w3.org/2004/02/skos/core#exactMatch リウマトイド因子陰性多発性関節炎 negative rheumatoid factor polyarthritis https://monarchinitiative.org/MONDO:0043152 NANDO:2200351 http://nanbyodata.jp/ontology/NANDO_2200351 異所性副腎皮質刺激ホルモン産生症候群 Ectopic ACTH syndrome MONDO:0043472 http://www.w3.org/2004/02/skos/core#exactMatch 異所性副腎皮質刺激ホルモン産生症候群 ectopic ACTH secretion syndrome https://monarchinitiative.org/MONDO:0043472 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://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 https://monarchinitiative.org/MONDO:0044742 NANDO:2200692 http://nanbyodata.jp/ontology/NANDO_2200692 骨髄線維症 Myelofibrosis MONDO:0044903 http://www.w3.org/2004/02/skos/core#exactMatch 骨髄線維症 myelofibrosis https://monarchinitiative.org/MONDO:0044903 NANDO:2200023 http://nanbyodata.jp/ontology/NANDO_2200023 Tリンパ芽球性リンパ腫 Precursor T lymphoblastic lymphoma MONDO:0044917 http://www.w3.org/2004/02/skos/core#exactMatch Tリンパ芽球性リンパ腫 T-lymphoblastic lymphoma https://monarchinitiative.org/MONDO:0044917 NANDO:2200595 http://nanbyodata.jp/ontology/NANDO_2200595 チロシン水酸化酵素欠損症 Tyrosine hydroxylase deficiency MONDO:0100064 http://www.w3.org/2004/02/skos/core#exactMatch チロシン水酸化酵素欠損症 tyrosine hydroxylase deficiency https://monarchinitiative.org/MONDO:0100064 NANDO:2200662 http://nanbyodata.jp/ontology/NANDO_2200662 骨髄悪性腫瘍傾向を伴う家族性血小板減少症 Familial platelet disorder with propensity to myeloid. MONDO:0100083 http://www.w3.org/2004/02/skos/core#exactMatch RUNX1に関連する遺伝性血小板減少症および血液癌素因症候群 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 https://monarchinitiative.org/MONDO:0100083 NANDO:2200877 http://nanbyodata.jp/ontology/NANDO_2200877 乳児重症ミオクロニーてんかん Severe myoclonic epilepsy in infancy MONDO:0100135 http://www.w3.org/2004/02/skos/core#exactMatch ドラベ症候群 Dravet syndrome https://monarchinitiative.org/MONDO:0100135 NANDO:2201234 http://nanbyodata.jp/ontology/NANDO_2201234 腎型シスチン症 Nephropathic cystinosis MONDO:0100151 http://www.w3.org/2004/02/skos/core#exactMatch 腎型シスチン症 nephropathic cystinosis https://monarchinitiative.org/MONDO:0100151 NANDO:2200737 http://nanbyodata.jp/ontology/NANDO_2200737 STAT5b欠損症 STAT5b deficiency 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 https://monarchinitiative.org/MONDO:0100211 NANDO:2200999 http://nanbyodata.jp/ontology/NANDO_2200999 IFAP症候群 Ichthyosis-follicularis-atrichia-photophobia syndrome MONDO:0100213 http://www.w3.org/2004/02/skos/core#exactMatch IFAP 症候群1, BRESHECK 症候群伴うまたは伴わない IFAP syndrome 1, with or without BRESHECK syndrome https://monarchinitiative.org/MONDO:0100213 NANDO:2200458 http://nanbyodata.jp/ontology/NANDO_2200458 A20ハプロ不全症 A20 haploinsufficiency MONDO:0100222 http://www.w3.org/2004/02/skos/core#exactMatch A20ハプロ不全症 A20 haploinsufficiency https://monarchinitiative.org/MONDO:0100222 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://www.w3.org/2004/02/skos/core#exactMatch ALミロイドーシス AL amyloidosis https://monarchinitiative.org/MONDO:0019438 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://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 https://monarchinitiative.org/MONDO:0019487 NANDO:2201420 http://nanbyodata.jp/ontology/NANDO_2201420 限局性強皮症 Localized scleroderma/morphea MONDO:0019562 http://www.w3.org/2004/02/skos/core#exactMatch 限局性強皮症 localized scleroderma https://monarchinitiative.org/MONDO:0019562 NANDO:2201461 http://nanbyodata.jp/ontology/NANDO_2201461 一側腎無形成 Unilateral renal agenesis MONDO:0019636 http://www.w3.org/2004/02/skos/core#exactMatch 腎無発生, 一側性 renal agenesis, unilateral https://monarchinitiative.org/MONDO:0019636 NANDO:1201133 http://nanbyodata.jp/ontology/NANDO_1201133 若年性多発性筋炎 juvenile polymyositis MONDO:0019734 http://www.w3.org/2004/02/skos/core#exactMatch 若年性多発性筋炎 juvenile polymyositis https://monarchinitiative.org/MONDO:0019734 NANDO:2201446 http://nanbyodata.jp/ontology/NANDO_2201446 先天性部分性脂肪萎縮症 Familial partial lipodystrophy 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 https://monarchinitiative.org/MONDO:0020088 NANDO:2201470 http://nanbyodata.jp/ontology/NANDO_2201470 遺伝性鉄芽球性貧血 Hereditary sideroblastic anemia MONDO:0020099 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性鉄芽球性貧血 inherited sideroblastic anemia https://monarchinitiative.org/MONDO:0020099 NANDO:2201394 http://nanbyodata.jp/ontology/NANDO_2201394 片側巨脳症 Hemimegaloencephaly MONDO:0020492 http://www.w3.org/2004/02/skos/core#exactMatch 片側巨脳症 hemimegalencephaly https://monarchinitiative.org/MONDO:0020492 NANDO:2201434 http://nanbyodata.jp/ontology/NANDO_2201434 一過性新生児糖尿病 Transient neonatal diabetes mellitus MONDO:0020525 http://www.w3.org/2004/02/skos/core#exactMatch 一過性新生児糖尿病 transient neonatal diabetes mellitus https://monarchinitiative.org/MONDO:0020525 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://www.w3.org/2004/02/skos/core#exactMatch X連鎖性点状軟骨異形成症2型 X-linked chondrodysplasia punctata 2 https://monarchinitiative.org/MONDO:0020603 NANDO:2201388 http://nanbyodata.jp/ontology/NANDO_2201388 ADTKD-MUC1 ADTKD-MUC1 MONDO:0020726 http://www.w3.org/2004/02/skos/core#exactMatch ADTKD-MUC1 tubulointerstitial kidney disease, autosomal dominant, 2 https://monarchinitiative.org/MONDO:0020726 NANDO:2201410 http://nanbyodata.jp/ontology/NANDO_2201410 ピリドキシン依存性てんかん Pyridoxine-dependent seizures MONDO:0020741 http://www.w3.org/2004/02/skos/core#exactMatch ALDH7A1変異によるピリドキシン依存性てんかん pyridoxine-dependent epilepsy caused by ALDH7A1 mutant https://monarchinitiative.org/MONDO:0020741 NANDO: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://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 https://monarchinitiative.org/MONDO:0024457 NANDO:2201442 http://nanbyodata.jp/ontology/NANDO_2201442 全身性脂肪萎縮症 Generalized lipodystrophy MONDO:0027766 http://www.w3.org/2004/02/skos/core#exactMatch 全身性脂肪萎縮症 generalized lipodystrophy https://monarchinitiative.org/MONDO:0027766 NANDO:2201443 http://nanbyodata.jp/ontology/NANDO_2201443 部分的脂肪萎縮症 Partial lipodystrophy MONDO:0027767 http://www.w3.org/2004/02/skos/core#exactMatch 部分的脂肪萎縮症 partial lipodystrophy https://monarchinitiative.org/MONDO:0027767 NANDO:2201422 http://nanbyodata.jp/ontology/NANDO_2201422 線状強皮症 Linear scleroderma MONDO:0043294 http://www.w3.org/2004/02/skos/core#exactMatch 線状強皮症 linear scleroderma https://monarchinitiative.org/MONDO:0043294 NANDO:2201398 http://nanbyodata.jp/ontology/NANDO_2201398 大田原症候群 Ohtahara syndrome MONDO:0100062 http://www.w3.org/2004/02/skos/core#exactMatch 遺伝性発達性およびてんかん性脳症 genetic developmental and epileptic encephalopathy https://monarchinitiative.org/MONDO:0100062 NANDO:2201435 http://nanbyodata.jp/ontology/NANDO_2201435 永続性新生児糖尿病 Permanent neonatal diabetes mellitus MONDO:0100164 http://www.w3.org/2004/02/skos/core#exactMatch 永続性新生児糖尿病 permanent neonatal diabetes mellitus https://monarchinitiative.org/MONDO:0100164 NANDO:1201118 http://nanbyodata.jp/ontology/NANDO_1201118 線条体黒質変性症 striatonigral degeneration MONDO:0003122 http://www.w3.org/2004/02/skos/core#exactMatch 線条体黒質変性症 striatonigral degeneration https://monarchinitiative.org/MONDO:0003122 NANDO:1201119 http://nanbyodata.jp/ontology/NANDO_1201119 オリーブ橋小脳萎縮症 olivopontocerebellar atrophy MONDO:0002017 http://www.w3.org/2004/02/skos/core#exactMatch オリーブ橋小脳萎縮症 olivopontocerebellar atrophy https://monarchinitiative.org/MONDO:0002017 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://www.w3.org/2004/02/skos/core#exactMatch トリーチャー・コリンズ症候群 Treacher-Collins syndrome https://monarchinitiative.org/MONDO:0002457 NANDO:2201510 http://nanbyodata.jp/ontology/NANDO_2201510 トムゼン病 Thomsen disease MONDO:0008055 http://www.w3.org/2004/02/skos/core#exactMatch 先天性ミオトニー, 常染色体顕性 myotonia congenita, autosomal dominant https://monarchinitiative.org/MONDO:0008055 NANDO:1201107 http://nanbyodata.jp/ontology/NANDO_1201107 LMNB1 関連大脳白質脳症 Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy MONDO:0008215 http://www.w3.org/2004/02/skos/core#exactMatch 成人発症常染色体顕性脱髄性白質ジストロフィー adult-onset autosomal dominant demyelinating leukodystrophy https://monarchinitiative.org/MONDO:0008215 NANDO:2201516 http://nanbyodata.jp/ontology/NANDO_2201516 Andersen-Tawil症候群 Andersen-Tawil syndrome MONDO:0008222 http://www.w3.org/2004/02/skos/core#exactMatch アンデルセン・タウィル症候群 Andersen-Tawil syndrome https://monarchinitiative.org/MONDO:0008222 NANDO:1201117 http://nanbyodata.jp/ontology/NANDO_1201117 Andersen-Tawil症候群 Andersen-Tawil syndrome MONDO:0008222 http://www.w3.org/2004/02/skos/core#exactMatch アンデルセン・タウィル症候群 Andersen-Tawil syndrome https://monarchinitiative.org/MONDO:0008222 NANDO:2201517 http://nanbyodata.jp/ontology/NANDO_2201517 先天性食道閉鎖症 Congenital esophageal atresia MONDO:0008586 http://www.w3.org/2004/02/skos/core#exactMatch 食道閉鎖および/または気管食道瘻 esophageal atresia/tracheoesophageal fistula https://monarchinitiative.org/MONDO:0008586 NANDO:1201165 http://nanbyodata.jp/ontology/NANDO_1201165 コケイン症候群III型 Cockayne syndrome type 3 MONDO:0008998 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群3 Cockayne syndrome type 3 https://monarchinitiative.org/MONDO:0008998 NANDO:1201154 http://nanbyodata.jp/ontology/NANDO_1201154 Woodhouse-Sakati症候群 Woodhouse-Sakati syndrome MONDO:0009419 http://www.w3.org/2004/02/skos/core#exactMatch Woodhouse-Sakati症候群 Woodhouse-Sakati syndrome https://monarchinitiative.org/MONDO:0009419 NANDO:1201166 http://nanbyodata.jp/ontology/NANDO_1201166 コケイン症候群合併型 Xeroderma pigmentosum-Cockayne syndrome MONDO:0016354 http://www.w3.org/2004/02/skos/core#exactMatch 色素性乾皮症-コケイン症候群合併型 xeroderma pigmentosum-Cockayne syndrome complex https://monarchinitiative.org/MONDO:0016354 NANDO:1201153 http://nanbyodata.jp/ontology/NANDO_1201153 Kufor-Rakeb症候群 Kufor-Rakeb syndrome MONDO:0011706 http://www.w3.org/2004/02/skos/core#exactMatch クフォー・ラケブ症候群 Kufor-Rakeb syndrome https://monarchinitiative.org/MONDO:0011706 NANDO:2201523 http://nanbyodata.jp/ontology/NANDO_2201523 鏡・緒方症候群 Kagami-Ogata syndrome 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 https://monarchinitiative.org/MONDO:0016779 NANDO:1201156 http://nanbyodata.jp/ontology/NANDO_1201156 脳内鉄沈着神経変性症2B型 Neurodegeneration with brain iron accumulation type2B MONDO:0012444 http://www.w3.org/2004/02/skos/core#exactMatch 脳内鉄沈着神経変性症2B neurodegeneration with brain iron accumulation 2B https://monarchinitiative.org/MONDO:0012444 NANDO:1201143 http://nanbyodata.jp/ontology/NANDO_1201143 DYT24 ジストニア DYT24 Dystonia MONDO:0014019 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア24 dystonia 24 https://monarchinitiative.org/MONDO:0014019 NANDO:1201144 http://nanbyodata.jp/ontology/NANDO_1201144 DYT25 ジストニア DYT25 Dystonia MONDO:0014033 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア25 dystonia 25 https://monarchinitiative.org/MONDO:0014033 NANDO:2201525 http://nanbyodata.jp/ontology/NANDO_2201525 シャーフ・ヤング症候群 Schaaf-Yang syndrome MONDO:0014243 http://www.w3.org/2004/02/skos/core#exactMatch Schaaf-Yang症候群 Schaaf-Yang syndrome https://monarchinitiative.org/MONDO:0014243 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://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 https://monarchinitiative.org/MONDO:0014290 NANDO:2201524 http://nanbyodata.jp/ontology/NANDO_2201524 シア・ギブス症候群 Xia-Gibbs syndrome 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 https://monarchinitiative.org/MONDO:0014358 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://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 https://monarchinitiative.org/MONDO:0014405 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://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 https://monarchinitiative.org/MONDO:0014405 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://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 https://monarchinitiative.org/MONDO:0014512 NANDO:1201145 http://nanbyodata.jp/ontology/NANDO_1201145 DYT26 ジストニア DYT26 Dystonia MONDO:0014620 http://www.w3.org/2004/02/skos/core#exactMatch ミオクローヌス・ジストニア26 myoclonic dystonia 26 https://monarchinitiative.org/MONDO:0014620 NANDO:1201146 http://nanbyodata.jp/ontology/NANDO_1201146 DYT27 ジストニア DYT27 Dystonia MONDO:0014627 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア27 dystonia 27 https://monarchinitiative.org/MONDO:0014627 NANDO:1201148 http://nanbyodata.jp/ontology/NANDO_1201148 DYT29 ジストニア DYT29 Dystonia MONDO:0015003 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア, 小児期発症, 視神経萎縮および基底核異常を伴う dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities https://monarchinitiative.org/MONDO:0015003 NANDO:1201147 http://nanbyodata.jp/ontology/NANDO_1201147 DYT28 ジストニア DYT28 Dystonia MONDO:0015004 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア28, 小児期発症 dystonia 28, childhood-onset https://monarchinitiative.org/MONDO:0015004 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch ロスムンド・トムソン症候群1型 Rothmund-Thomson syndrome type 1 https://monarchinitiative.org/MONDO:0016368 NANDO:2201529 http://nanbyodata.jp/ontology/NANDO_2201529 ロスムンド・トムソン症候群 type2 Rothmund-Thomson syndrome type2 MONDO:0016369 http://www.w3.org/2004/02/skos/core#exactMatch ロスムンド・トムソン症候群2型 Rothmund-Thomson syndrome type 2 https://monarchinitiative.org/MONDO:0016369 NANDO: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://www.w3.org/2004/02/skos/core#exactMatch アポリポ蛋白A-IIアミロイドーシス apolipoprotein A-II amyloidosis https://monarchinitiative.org/MONDO:0016533 NANDO:1201169 http://nanbyodata.jp/ontology/NANDO_1201169 ペルオキシソーム単独欠損症 single peroxisomal enzyme deficiency MONDO:0100257 http://www.w3.org/2004/02/skos/core#exactMatch 単一ペルオキシソーム酵素/タンパク欠乏症 peroxisomal single enzyme/protein defect https://monarchinitiative.org/MONDO:0100257 NANDO:1201122 http://nanbyodata.jp/ontology/NANDO_1201122 AH アミロイド－シス AH amyloidosis MONDO:0018613 http://www.w3.org/2004/02/skos/core#exactMatch AHアミロイドーシス AH amyloidosis https://monarchinitiative.org/MONDO:0018613 NANDO:1201174 http://nanbyodata.jp/ontology/NANDO_1201174 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://www.w3.org/2004/02/skos/core#exactMatch MYO5B関連進行性家族性肝内胆汁うっ滞 MYO5B-related progressive familial intrahepatic cholestasis https://monarchinitiative.org/MONDO:0018804 NANDO:1201163 http://nanbyodata.jp/ontology/NANDO_1201163 コケイン症候群I型 Cockayne syndrome type 1 MONDO:0019569 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群1型 Cockayne syndrome type 1 https://monarchinitiative.org/MONDO:0019569 NANDO:1201164 http://nanbyodata.jp/ontology/NANDO_1201164 コケイン症候群II型 Cockayne syndrome type 2 MONDO:0019570 http://www.w3.org/2004/02/skos/core#exactMatch コケイン症候群2型 Cockayne syndrome type 2 https://monarchinitiative.org/MONDO:0019570 NANDO:1201160 http://nanbyodata.jp/ontology/NANDO_1201160 ファイファー症候群1型 Pfeiffer syndrome type 1 MONDO:0019659 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群1型 Pfeiffer syndrome type 1 https://monarchinitiative.org/MONDO:0019659 NANDO:1201161 http://nanbyodata.jp/ontology/NANDO_1201161 ファイファー症候群2型 Pfeiffer syndrome type 2 MONDO:0019660 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群2型 Pfeiffer syndrome type 2 https://monarchinitiative.org/MONDO:0019660 NANDO:1201162 http://nanbyodata.jp/ontology/NANDO_1201162 ファイファー症候群3型 Pfeiffer syndrome type 3 MONDO:0019661 http://www.w3.org/2004/02/skos/core#exactMatch ファイファー症候群3型 Pfeiffer syndrome type 3 https://monarchinitiative.org/MONDO:0019661 NANDO:2201533 http://nanbyodata.jp/ontology/NANDO_2201533 続発性脊髄空洞症 secondary syringomyelia MONDO:0020509 http://www.w3.org/2004/02/skos/core#exactMatch 二次性脊髄空洞症 secondary syringomyelia https://monarchinitiative.org/MONDO:0020509 NANDO:1201149 http://nanbyodata.jp/ontology/NANDO_1201149 DYT30 ジストニア DYT30 Dystonia MONDO:0025691 http://www.w3.org/2004/02/skos/core#exactMatch ジストニア30 dystonia 30 https://monarchinitiative.org/MONDO:0025691 NANDO: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://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 https://monarchinitiative.org/MONDO:0800501