nando_id	nando_label_ja	nando_label_en	mondo_id	mondoURI	property	mondo_label_ja	mondo_label_en	omimURL	omimid
NANDO:1200214	遺伝性トランスサイレチンアミロイドーシス	Hereditary Transthyretin Amyloidosis	MONDO:0007100	http://purl.obolibrary.org/obo/MONDO_0007100	http://www.w3.org/2004/02/skos/core#closeMatch	家族性アミロイドニューロパチー	familial amyloid neuropathy	https://omim.org/phenotypicSeries/PS105210	OMIMPS:105210
NANDO:1200365	遺伝性血管性浮腫	Hereditary angioedema	MONDO:0007361	http://purl.obolibrary.org/obo/MONDO_0007361	http://www.w3.org/2004/02/skos/core#closeMatch	C1抑制因子欠乏症	C1 inhibitor deficiency	https://omim.org/entry/120790	OMIM:120790
NANDO:1200516	DYT5aジストニア	Dystonia 5a	MONDO:0007495	http://purl.obolibrary.org/obo/MONDO_0007495	http://www.w3.org/2004/02/skos/core#closeMatch	ジストニア5	dystonia 5	https://omim.org/entry/128230	OMIM:128230
NANDO:1200524	急性発症ジストニア・パーキンソニズム	Rapid-onset dystonia-parkinsonism	MONDO:0007496	http://purl.obolibrary.org/obo/MONDO_0007496	http://www.w3.org/2004/02/skos/core#closeMatch	ジストニア12	dystonia 12	https://omim.org/entry/128235	OMIM:128235
NANDO:1200030	慢性炎症性脱髄性多発神経炎	Chronic inflammatory demyelinating polyneuropathy	MONDO:0007691	http://purl.obolibrary.org/obo/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://omim.org/entry/139393	OMIM:139393
NANDO:1200218	縁取り空胞を伴う遠位型ミオパチー	Distal myopathy with rimmed vacuoles	MONDO:0007827	http://purl.obolibrary.org/obo/MONDO_0007827	http://www.w3.org/2004/02/skos/core#closeMatch	封入体筋炎	inclusion body myositis	https://omim.org/entry/147421	OMIM:147421
NANDO:1200560	中隔視神経形成異常症／ドモルシア症候群	Septo-optic dysplasia / De Morsier syndrome	MONDO:0008428	http://purl.obolibrary.org/obo/MONDO_0008428	http://www.w3.org/2004/02/skos/core#closeMatch	中隔視神経形成異常症	septooptic dysplasia	https://omim.org/entry/182230	OMIM:182230
NANDO:1200339	胸腺低形成	Thymus hypoplasia	MONDO:0008564	http://purl.obolibrary.org/obo/MONDO_0008564	http://www.w3.org/2004/02/skos/core#closeMatch	ディジョージ症候群	DiGeorge syndrome	https://omim.org/entry/188400	OMIM:188400
NANDO:1200688	22q11.2欠失症候群	22q11.2 deletion syndrome	MONDO:0008564	http://purl.obolibrary.org/obo/MONDO_0008564	http://www.w3.org/2004/02/skos/core#closeMatch	ディジョージ症候群	DiGeorge syndrome	https://omim.org/entry/188400	OMIM:188400
NANDO:1200339	胸腺低形成	Thymus hypoplasia	MONDO:0008644	http://purl.obolibrary.org/obo/MONDO_0008644	http://www.w3.org/2004/02/skos/core#closeMatch	口蓋帆・心臓・顔症候群	velocardiofacial syndrome	https://omim.org/entry/192430	OMIM:192430
NANDO:1200688	22q11.2欠失症候群	22q11.2 deletion syndrome	MONDO:0008644	http://purl.obolibrary.org/obo/MONDO_0008644	http://www.w3.org/2004/02/skos/core#closeMatch	口蓋帆・心臓・顔症候群	velocardiofacial syndrome	https://omim.org/entry/192430	OMIM:192430
NANDO:1200153	遅発乳児型神経セロイドリポフスチン症	Late infantile neuronal ceroid lipofuscinosis	MONDO:0008769	http://purl.obolibrary.org/obo/MONDO_0008769	http://www.w3.org/2004/02/skos/core#closeMatch	神経セロイドリポフスチン症2	neuronal ceroid lipofuscinosis 2	https://omim.org/entry/204500	OMIM:204500
NANDO:1200717	急速進行性糸球体腎炎（抗GBM抗体陽性）	Anti-GBM rapidly progressive glomerulonephritis	MONDO:0009303	http://purl.obolibrary.org/obo/MONDO_0009303	http://www.w3.org/2004/02/skos/core#closeMatch	抗糸球体基底膜抗体症	anti-glomerular basement membrane disease	https://omim.org/entry/233450	OMIM:233450
NANDO:1200109	マロトー・ラミー症候群（重症型）	Maroteaux Lamy syndrome, rapidly progressing form	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	http://www.w3.org/2004/02/skos/core#closeMatch	ムコ多糖症6型	mucopolysaccharidosis type 6	https://omim.org/entry/253200	OMIM:253200
NANDO:1200110	マロトー・ラミー症候群（軽症型）	Maroteaux Lamy syndrome, slowly progressing form	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	http://www.w3.org/2004/02/skos/core#closeMatch	ムコ多糖症6型	mucopolysaccharidosis type 6	https://omim.org/entry/253200	OMIM:253200
NANDO:1200215	ウルリッヒ病	Ullrich disease	MONDO:0009681	http://purl.obolibrary.org/obo/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://omim.org/entry/254090	OMIM:254090
NANDO:1200120	新生児及び早期乳児型ガラクトシアリドーシス	Galactosialidosis, early infantile form	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	http://www.w3.org/2004/02/skos/core#closeMatch	シアリドーシス2型	sialidosis type 2	https://omim.org/entry/256150	OMIM:256150
NANDO:1200120	新生児及び早期乳児型ガラクトシアリドーシス	Galactosialidosis, early infantile form	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	http://www.w3.org/2004/02/skos/core#closeMatch	シアリドーシス2型	sialidosis type 2	https://omim.org/entry/256550	OMIM:256550
NANDO:1200152	乳児型神経セロイドリポフスチン症	Infantile neuronal ceroid lipofuscinosis	MONDO:0009744	http://purl.obolibrary.org/obo/MONDO_0009744	http://www.w3.org/2004/02/skos/core#closeMatch	神経セロイドリポフスチン症1	neuronal ceroid lipofuscinosis 1	https://omim.org/entry/256730	OMIM:256730
NANDO:1200196	亜急性硬化性全脳炎（典型）	Typical subacute sclerosing panencephalitis	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	http://www.w3.org/2004/02/skos/core#closeMatch	亜急性硬化性全脳炎	subacute sclerosing panencephalitis	https://omim.org/entry/260470	OMIM:260470
NANDO:1200198	亜急性進行型硬化性全脳炎	Subacute progressive sclerosing panencephalitis	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	http://www.w3.org/2004/02/skos/core#closeMatch	亜急性硬化性全脳炎	subacute sclerosing panencephalitis	https://omim.org/entry/260470	OMIM:260470
NANDO:1200785	フェニルアラニン水酸化酵素欠損症	Phenylalanine hydroxylase deficiency	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	http://www.w3.org/2004/02/skos/core#closeMatch	フェニルケトン尿症	phenylketonuria	https://omim.org/entry/261600	OMIM:261600
NANDO:1200423	呼吸細気管支炎関連間質性肺炎	Respiratory bronchiolitis-associated interstitial lung disease	MONDO:0009887	http://purl.obolibrary.org/obo/MONDO_0009887	http://www.w3.org/2004/02/skos/core#closeMatch	剥離性間質性肺炎	desquamative interstitial pneumonia	https://omim.org/entry/263000	OMIM:263000
NANDO:1200280	一次性シェーグレン症候群	Primary Sjogren's syndrome	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	http://www.w3.org/2004/02/skos/core#closeMatch	シェーグレン症候群	Sjogren syndrome	https://omim.org/entry/270150	OMIM:270150
NANDO:1200084	新生児型マルチプルスルファターゼ欠損症	Neonatal multiple sulfatase deficiency	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	http://www.w3.org/2004/02/skos/core#closeMatch	マルチプルサルファターゼ欠損症	mucosulfatidosis	https://omim.org/entry/272200	OMIM:272200
NANDO:1200085	乳幼児型マルチプルスルファターゼ欠損症	Late-infantile multiple sulfatase deficiency	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	http://www.w3.org/2004/02/skos/core#closeMatch	マルチプルサルファターゼ欠損症	mucosulfatidosis	https://omim.org/entry/272200	OMIM:272200
NANDO:1200395	甲状腺ホルモン不応症	Resistance to thyroid hormone	MONDO:0010131	http://purl.obolibrary.org/obo/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://omim.org/entry/274300	OMIM:274300
NANDO:1200623	中性脂肪蓄積症	Neutral lipid storage disease with ichthyosis	MONDO:0010155	http://purl.obolibrary.org/obo/MONDO_0010155	http://www.w3.org/2004/02/skos/core#closeMatch	ドルフマン・シャナリン症候群	Dorfman-Chanarin disease	https://omim.org/entry/275630	OMIM:275630
NANDO:1200403	先天性副腎低形成症	Congenital adrenal hypoplasia	MONDO:0010264	http://purl.obolibrary.org/obo/MONDO_0010264	http://www.w3.org/2004/02/skos/core#closeMatch	X連鎖性先天性副腎低形成症	X-linked adrenal hypoplasia congenita	https://omim.org/entry/300200	OMIM:300200
NANDO:1200690	脆弱Ｘ症候群関連疾患	Fragile X syndrome related diseases	MONDO:0010382	http://purl.obolibrary.org/obo/MONDO_0010382	http://www.w3.org/2004/02/skos/core#closeMatch	脆弱X関連振戦運動失調症候群	fragile X-associated tremor/ataxia syndrome	https://omim.org/entry/300623	OMIM:300623
NANDO:1200779	ビタミンD抵抗性くる病	Vitamin D-resistant rickets	MONDO:0010619	http://purl.obolibrary.org/obo/MONDO_0010619	http://www.w3.org/2004/02/skos/core#closeMatch	X連鎖顕性低リン血症性くる病	X-linked dominant hypophosphatemic rickets	https://omim.org/entry/307800	OMIM:307800
NANDO:1200604	典型的レット症候群	Typical Rett syndrome	MONDO:0010726	http://purl.obolibrary.org/obo/MONDO_0010726	http://www.w3.org/2004/02/skos/core#closeMatch	レット症候群	Rett syndrome	https://omim.org/entry/312750	OMIM:312750
NANDO:1200779	ビタミンD抵抗性くる病	Vitamin D-resistant rickets	MONDO:0010931	http://purl.obolibrary.org/obo/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://omim.org/entry/600785	OMIM:600785
NANDO:1200540	脳内鉄沈着神経変性症4型	Neurodegeneration with brain iron accumulation type 4	MONDO:0011426	http://purl.obolibrary.org/obo/MONDO_0011426	http://www.w3.org/2004/02/skos/core#closeMatch	NBIA４	aceruloplasminemia	https://omim.org/entry/604290	OMIM:604290
NANDO:1200799	グルコーストランスポーター1欠損症	Glucose transporter 1 deficiency	MONDO:0011724	http://purl.obolibrary.org/obo/MONDO_0011724	http://www.w3.org/2004/02/skos/core#closeMatch	GLUT1欠損による脳症	encephalopathy due to GLUT1 deficiency	https://omim.org/entry/606777	OMIM:606777
NANDO:1200748	特発性肺胞蛋白症	Idiopathic pulmonary alveolar proteinosis	MONDO:0012579	http://purl.obolibrary.org/obo/MONDO_0012579	http://www.w3.org/2004/02/skos/core#closeMatch	自己免疫性肺胞蛋白症	autoimmune pulmonary alveolar proteinosis	https://omim.org/entry/610910	OMIM:610910
NANDO:1200746	肺胞蛋白症	Pulmonary alveolar proteinosis	MONDO:0012580	http://purl.obolibrary.org/obo/MONDO_0012580	http://www.w3.org/2004/02/skos/core#closeMatch	遺伝性肺胞蛋白症	hereditary pulmonary alveolar proteinosis	https://omim.org/phenotypicSeries/PS265120	OMIMPS:265120
NANDO:1200541	FAHN	Fatty acid hydroxylase-associated neurodegeneration	MONDO:0012866	http://purl.obolibrary.org/obo/MONDO_0012866	http://www.w3.org/2004/02/skos/core#closeMatch	遺伝性痙性対麻痺35	hereditary spastic paraplegia 35	https://omim.org/entry/612319	OMIM:612319
NANDO:1200301	MDSとの境界型	Borderline between aplastic anemia and MDS	MONDO:0013851	http://purl.obolibrary.org/obo/MONDO_0013851	http://www.w3.org/2004/02/skos/core#closeMatch	常染色体顕性形成不全および骨髄異形成	autosomal dominant aplasia and myelodysplasia	https://omim.org/entry/614675	OMIM:614675
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://purl.obolibrary.org/obo/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://omim.org/entry/617158	OMIM:617158
NANDO:1200301	MDSとの境界型	Borderline between aplastic anemia and MDS	MONDO:0015909	http://purl.obolibrary.org/obo/MONDO_0015909	http://www.w3.org/2004/02/skos/core#closeMatch	再生不良性貧血	aplastic anemia	https://omim.org/entry/609135	OMIM:609135
NANDO:1200649	後側彎型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, kyphoscoliotic type	MONDO:0016002	http://purl.obolibrary.org/obo/MONDO_0016002	http://www.w3.org/2004/02/skos/core#closeMatch	エーラス・ダンロス症候群, 後側弯型1	Ehlers-Danlos syndrome, kyphoscoliotic type 1	https://omim.org/entry/225400	OMIM:225400
NANDO:1200539	脳内鉄沈着神経変性症3型	Neurodegeneration with brain iron accumulation type 3	MONDO:0018307	http://purl.obolibrary.org/obo/MONDO_0018307	http://www.w3.org/2004/02/skos/core#closeMatch	脳内鉄沈着神経変性症	neurodegeneration with brain iron accumulation	https://omim.org/phenotypicSeries/PS234200	OMIMPS:234200
NANDO:1200542	脳内鉄沈着神経変性症	Neurodegeneration with brain iron accumulation	MONDO:0018307	http://purl.obolibrary.org/obo/MONDO_0018307	http://www.w3.org/2004/02/skos/core#closeMatch	脳内鉄沈着神経変性症	neurodegeneration with brain iron accumulation	https://omim.org/phenotypicSeries/PS234200	OMIMPS:234200
NANDO:1200675	鰓耳腎症候群	Branchio-oto-renal syndrome	MONDO:0018878	http://purl.obolibrary.org/obo/MONDO_0018878	http://www.w3.org/2004/02/skos/core#closeMatch	鰓耳症候群	branchiootic syndrome	https://omim.org/phenotypicSeries/PS602588	OMIMPS:602588
NANDO:1200641	非症候型眼皮膚白皮症	Non-syndromic oculocutaneous albinism	MONDO:0018910	http://purl.obolibrary.org/obo/MONDO_0018910	http://www.w3.org/2004/02/skos/core#closeMatch	眼皮膚白皮症	oculocutaneous albinism	https://omim.org/phenotypicSeries/PS203100	OMIMPS:203100
NANDO:1200481	ミオチュブラーミオパチー	Myotubular myopathy	MONDO:0018947	http://purl.obolibrary.org/obo/MONDO_0018947	http://www.w3.org/2004/02/skos/core#closeMatch	中心核ミオパチー	centronuclear myopathy	https://omim.org/phenotypicSeries/PS160150	OMIMPS:160150
NANDO:1200225	神経線維腫症	Neurofibromatosis	MONDO:0018975	http://purl.obolibrary.org/obo/MONDO_0018975	http://www.w3.org/2004/02/skos/core#closeMatch	神経線維腫症1型	neurofibromatosis type 1	https://omim.org/entry/162200	OMIM:162200
NANDO:1200142	酸性リパーゼ欠損症	Acid lipase deficiency	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	http://www.w3.org/2004/02/skos/core#closeMatch	酸性リパーゼ欠損症	Wolman disease	https://omim.org/entry/620151	OMIM:620151
NANDO:1200219	眼咽頭遠位型ミオパチー	Oculopharyngodistal myopathy	MONDO:0020793	http://purl.obolibrary.org/obo/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://omim.org/entry/164310	OMIM:164310
NANDO:1200180	複合体I欠損症	Mitochondrial complex I deficiency	MONDO:0100224	http://purl.obolibrary.org/obo/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://omim.org/entry/252010	OMIM:252010
NANDO:1200838	肝型糖原病	Hepatic glycogen storage disease	MONDO:0002412	http://purl.obolibrary.org/obo/MONDO_0002412	http://www.w3.org/2004/02/skos/core#closeMatch	糖原質代謝障害	disorder of glycogen metabolism	https://omim.org/phenotypicSeries/PS232200	OMIMPS:232200
NANDO:2200049	骨軟骨腫症	Osteochondromatosis	MONDO:0005508	http://purl.obolibrary.org/obo/MONDO_0005508	http://www.w3.org/2004/02/skos/core#closeMatch	遺伝性多発性骨軟骨腫	hereditary multiple osteochondromas	https://omim.org/phenotypicSeries/PS133700	OMIMPS:133700
NANDO:2200138	アミロイド腎	Amyloid nephropathy	MONDO:0007099	http://purl.obolibrary.org/obo/MONDO_0007099	http://www.w3.org/2004/02/skos/core#closeMatch	家族性内蔵アミロイドーシス	familial visceral amyloidosis	https://omim.org/entry/105200	OMIM:105200
NANDO:1201060	家族性アミロイドニューロパチーI型	Familial amyloid polyneuropathy type 1	MONDO:0007100	http://purl.obolibrary.org/obo/MONDO_0007100	http://www.w3.org/2004/02/skos/core#closeMatch	家族性アミロイドニューロパチー	familial amyloid neuropathy	https://omim.org/phenotypicSeries/PS105210	OMIMPS:105210
NANDO:1201102	短体幹症	Brachyolmia, autosomal dominant type	MONDO:0007232	http://purl.obolibrary.org/obo/MONDO_0007232	http://www.w3.org/2004/02/skos/core#closeMatch	常染色体顕性短体幹症	autosomal dominant brachyolmia	https://omim.org/entry/113500	OMIM:113500
NANDO:1200919	アラジール症候群典型例	Typical Alagille syndrome	MONDO:0007318	http://purl.obolibrary.org/obo/MONDO_0007318	http://www.w3.org/2004/02/skos/core#closeMatch	アラジール症候群	Alagille syndrome	https://omim.org/phenotypicSeries/PS118450	OMIMPS:118450
NANDO:2200190	喉頭狭窄	Laryngeal stenosis	MONDO:0007879	http://purl.obolibrary.org/obo/MONDO_0007879	http://www.w3.org/2004/02/skos/core#closeMatch	喉頭閉鎖症	larynx atresia	https://omim.org/entry/150300	OMIM:150300
NANDO:2200008	急性骨髄単球性白血病	Acute monocytic leukemia	MONDO:0007896	http://purl.obolibrary.org/obo/MONDO_0007896	http://www.w3.org/2004/02/skos/core#closeMatch	急性単球性白血病	acute monocytic leukemia	https://omim.org/entry/151380	OMIM:151380
NANDO:2200049	骨軟骨腫症	Osteochondromatosis	MONDO:0008145	http://purl.obolibrary.org/obo/MONDO_0008145	http://www.w3.org/2004/02/skos/core#closeMatch	オリエ病	Ollier disease	https://omim.org/entry/166000	OMIM:166000
NANDO:1200815	赤芽球性プロトポルフィリン症	Erythropoietic protoporphyria	MONDO:0008319	http://purl.obolibrary.org/obo/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://omim.org/entry/177000	OMIM:177000
NANDO:1201021	膵囊胞線維症	Pancreatic cystic fibrosis	MONDO:0009061	http://purl.obolibrary.org/obo/MONDO_0009061	http://www.w3.org/2004/02/skos/core#closeMatch	嚢胞性線維症	cystic fibrosis	https://omim.org/entry/219700	OMIM:219700
NANDO:1200844	肝型糖原病IIIc型	Hepatic glycogen storage disease type IIIc	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	http://www.w3.org/2004/02/skos/core#closeMatch	糖原病III	glycogen storage disease III	https://omim.org/entry/232400	OMIM:232400
NANDO:1201019	肝型糖原病III型	Hepatic glycogen storage disease type III	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	http://www.w3.org/2004/02/skos/core#closeMatch	糖原病III	glycogen storage disease III	https://omim.org/entry/232400	OMIM:232400
NANDO:1200850	肝型糖原病IV型	Hepatic glycogen storage disease type IV	MONDO:0009292	http://purl.obolibrary.org/obo/MONDO_0009292	http://www.w3.org/2004/02/skos/core#closeMatch	グリコーゲン分枝酵素欠損による糖原病	glycogen storage disease due to glycogen branching enzyme deficiency	https://omim.org/entry/232500	OMIM:232500
NANDO:1200823	筋型糖原病	Muscle glycogen storage disease	MONDO:0009295	http://purl.obolibrary.org/obo/MONDO_0009295	http://www.w3.org/2004/02/skos/core#closeMatch	糖原病VII	glycogen storage disease VII	https://omim.org/entry/232800	OMIM:232800
NANDO:2200214	完全房室ブロック	Complete atrio-ventricular block	MONDO:0009326	http://purl.obolibrary.org/obo/MONDO_0009326	http://www.w3.org/2004/02/skos/core#closeMatch	先天性心ブロック	congenital heart block	https://omim.org/entry/234700	OMIM:234700
NANDO:1200838	肝型糖原病	Hepatic glycogen storage disease	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	http://www.w3.org/2004/02/skos/core#closeMatch	肝グリコーゲン合成酵素欠損による糖原病	glycogen storage disorder due to hepatic glycogen synthase deficiency	https://omim.org/entry/240600	OMIM:240600
NANDO:1200852	レシチンコレステロールアシルトランスフェラーゼ欠損症	Lecithin cholesterol acyltransferase deficiency	MONDO:0009515	http://purl.obolibrary.org/obo/MONDO_0009515	http://www.w3.org/2004/02/skos/core#closeMatch	レシチンコレステロールアシルトランスフェラーゼ欠損症	Norum disease	https://omim.org/entry/245900	OMIM:245900
NANDO:1201036	ネフロン癆	Nephronophthisis	MONDO:0009728	http://purl.obolibrary.org/obo/MONDO_0009728	http://www.w3.org/2004/02/skos/core#closeMatch	ネフロン癆1	nephronophthisis 1	https://omim.org/entry/256100	OMIM:256100
NANDO:2200140	ネフロン癆	Nephronophthisis	MONDO:0009728	http://purl.obolibrary.org/obo/MONDO_0009728	http://www.w3.org/2004/02/skos/core#closeMatch	ネフロン癆1	nephronophthisis 1	https://omim.org/entry/256100	OMIM:256100
NANDO:1200866	高IgD症候群	Hyper IgD syndrome	MONDO:0009849	http://purl.obolibrary.org/obo/MONDO_0009849	http://www.w3.org/2004/02/skos/core#closeMatch	周期熱を伴う高ガンマグロブリン血症D	hyperimmunoglobulinemia D with periodic fever	https://omim.org/entry/260920	OMIM:260920
NANDO:1201095	MECP2重複症候群	MECP2 Duplication Syndrome	MONDO:0010283	http://purl.obolibrary.org/obo/MONDO_0010283	http://www.w3.org/2004/02/skos/core#closeMatch	症候性X連鎖性知的障害Lubs型	syndromic X-linked intellectual disability Lubs type	https://omim.org/entry/300260	OMIM:300260
NANDO:1200980	成人発症II型シトルリン血症	Adult-onset type II citrullinemia	MONDO:0011326	http://purl.obolibrary.org/obo/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://omim.org/entry/603471	OMIM:603471
NANDO:1200962	先天性三尖弁狭窄症	Congenital tricuspid stenosis	MONDO:0011514	http://purl.obolibrary.org/obo/MONDO_0011514	http://www.w3.org/2004/02/skos/core#closeMatch	三尖弁閉鎖症	tricuspid atresia	https://omim.org/entry/605067	OMIM:605067
NANDO:2200014	慢性骨髄単球性白血病	Chronic myelomonocytic leukemia	MONDO:0011908	http://purl.obolibrary.org/obo/MONDO_0011908	http://www.w3.org/2004/02/skos/core#closeMatch	若年性骨髄単球性白血病	juvenile myelomonocytic leukemia	https://omim.org/entry/607785	OMIM:607785
NANDO:1201009	全身型多発血管炎性肉芽腫症	Systemic granulomatosis with polyangiitis	MONDO:0012105	http://purl.obolibrary.org/obo/MONDO_0012105	http://www.w3.org/2004/02/skos/core#closeMatch	多発血管炎性肉芽腫症	granulomatosis with polyangiitis	https://omim.org/entry/608710	OMIM:608710
NANDO:1200866	高IgD症候群	Hyper IgD syndrome	MONDO:0012481	http://purl.obolibrary.org/obo/MONDO_0012481	http://www.w3.org/2004/02/skos/core#closeMatch	メバロン酸尿症	mevalonic aciduria	https://omim.org/entry/610377	OMIM:610377
NANDO:1201097	カルタゲナー症候群	Kartagener syndrome	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	http://www.w3.org/2004/02/skos/core#closeMatch	原発性線毛機能不全症	primary ciliary dyskinesia	https://omim.org/phenotypicSeries/PS244400	OMIMPS:244400
NANDO:2200204	カルタゲナー症候群	Kartagener syndrome	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	http://www.w3.org/2004/02/skos/core#closeMatch	原発性線毛機能不全症	primary ciliary dyskinesia	https://omim.org/phenotypicSeries/PS244400	OMIMPS:244400
NANDO:2200216	多源性心室期外収縮	Polymorphic ventricular premature beat	MONDO:0017990	http://purl.obolibrary.org/obo/MONDO_0017990	http://www.w3.org/2004/02/skos/core#closeMatch	カテコラミン誘発多形性心室頻拍	catecholaminergic polymorphic ventricular tachycardia	https://omim.org/phenotypicSeries/PS604772	OMIMPS:604772
NANDO:2200170	髄質嚢胞腎	Medullary cystic kidney	MONDO:0019005	http://purl.obolibrary.org/obo/MONDO_0019005	http://www.w3.org/2004/02/skos/core#closeMatch	ネフロン癆	nephronophthisis	https://omim.org/phenotypicSeries/PS256100	OMIMPS:256100
NANDO:1201090	ミオパチー型エーラス・ダンロス症候群	Myopathic Ehlers-Danlos syndrome	MONDO:0034022	http://purl.obolibrary.org/obo/MONDO_0034022	http://www.w3.org/2004/02/skos/core#closeMatch	ベスレムミオパチー2	Bethlem myopathy 2	https://omim.org/entry/616471	OMIM:616471
NANDO:1201085	類古典型エーラス・ダンロス症候群	Classical-like Ehlers-Danlos syndrome	MONDO:0054813	http://purl.obolibrary.org/obo/MONDO_0054813	http://www.w3.org/2004/02/skos/core#closeMatch	エーラス・ダンロス症候群, 類古典型, 2	Ehlers-Danlos syndrome, classic-like, 2	https://omim.org/entry/618000	OMIM:618000
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://purl.obolibrary.org/obo/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://omim.org/entry/620865	OMIM:620865
NANDO:2201014	多発性軟骨性外骨腫症	Multiple cartilaginous exostosis	MONDO:0005508	http://purl.obolibrary.org/obo/MONDO_0005508	http://www.w3.org/2004/02/skos/core#closeMatch	遺伝性多発性骨軟骨腫	hereditary multiple osteochondromas	https://omim.org/phenotypicSeries/PS133700	OMIMPS:133700
NANDO:2200284	大動脈縮窄複合	Coarctation complex	MONDO:0007345	http://purl.obolibrary.org/obo/MONDO_0007345	http://www.w3.org/2004/02/skos/core#closeMatch	大動脈縮窄症	aorta coarctation	https://omim.org/entry/120000	OMIM:120000
NANDO:2200795	遺伝性血管性浮腫	Hereditary angioedema	MONDO:0007361	http://purl.obolibrary.org/obo/MONDO_0007361	http://www.w3.org/2004/02/skos/core#closeMatch	C1抑制因子欠乏症	C1 inhibitor deficiency	https://omim.org/entry/120790	OMIM:120790
NANDO:2200461	2型糖尿病	Diabetes mellitus type 2	MONDO:0007452	http://purl.obolibrary.org/obo/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://omim.org/entry/125850	OMIM:125850
NANDO:2200905	慢性炎症性脱髄性多発神経炎	Chronic inflammatory demyelinating polyneuropathy	MONDO:0007691	http://purl.obolibrary.org/obo/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://omim.org/entry/139393	OMIM:139393
NANDO:2200602	家族性高コレステロール血症	Familial hypercholesterolemia	MONDO:0007750	http://purl.obolibrary.org/obo/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://omim.org/entry/143890	OMIM:143890
NANDO:2200406	多発性内分泌腫瘍2型	Multiple endocrine neoplasia type 2	MONDO:0008234	http://purl.obolibrary.org/obo/MONDO_0008234	http://www.w3.org/2004/02/skos/core#closeMatch	多発性内分泌腫瘍2A型	multiple endocrine neoplasia type 2A	https://omim.org/entry/171400	OMIM:171400
NANDO:2201266	赤芽球性プロトポルフィリン症	Erythropoietic protoporphyria	MONDO:0008319	http://purl.obolibrary.org/obo/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://omim.org/entry/177000	OMIM:177000
NANDO:2200712	胸腺低形成	Thymus hypoplasia	MONDO:0008564	http://purl.obolibrary.org/obo/MONDO_0008564	http://www.w3.org/2004/02/skos/core#closeMatch	ディジョージ症候群	DiGeorge syndrome	https://omim.org/entry/188400	OMIM:188400
NANDO:2200712	胸腺低形成	Thymus hypoplasia	MONDO:0008644	http://purl.obolibrary.org/obo/MONDO_0008644	http://www.w3.org/2004/02/skos/core#closeMatch	口蓋帆・心臓・顔症候群	velocardiofacial syndrome	https://omim.org/entry/192430	OMIM:192430
NANDO:2201345	軟骨無発生症2型	Achondrogenesis type 2	MONDO:0008703	http://purl.obolibrary.org/obo/MONDO_0008703	http://www.w3.org/2004/02/skos/core#closeMatch	遠位中間肢異形成症2A	acromesomelic dysplasia 2A	https://omim.org/entry/200700	OMIM:200700
NANDO:2201139	発症前型極長鎖アシルCoA脱水素酵素欠損症	Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency	MONDO:0008723	http://purl.obolibrary.org/obo/MONDO_0008723	http://www.w3.org/2004/02/skos/core#closeMatch	極長鎖アシルCoA脱水素酵素欠損症	very long chain acyl-CoA dehydrogenase deficiency	https://omim.org/entry/201475	OMIM:201475
NANDO:2200948	腸管神経節細胞僅少症	Congenital Isolated Hypoganglionosis	MONDO:0008738	http://purl.obolibrary.org/obo/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://omim.org/entry/202550	OMIM:202550
NANDO:2201242	遅発乳児型神経セロイドリポフスチン症	Late infantile neuronal ceroid lipofuscinosis	MONDO:0008769	http://purl.obolibrary.org/obo/MONDO_0008769	http://www.w3.org/2004/02/skos/core#closeMatch	神経セロイドリポフスチン症2	neuronal ceroid lipofuscinosis 2	https://omim.org/entry/204500	OMIM:204500
NANDO:2201084	発症前型N-アセチルグルタミン酸合成酵素欠損症	Presymptomatic N-acetylglutamate synthetase deficiency	MONDO:0009377	http://purl.obolibrary.org/obo/MONDO_0009377	http://www.w3.org/2004/02/skos/core#closeMatch	Nアセチルグルタミン酸合成酵素欠損による高アンモニア血症	hyperammonemia due to N-acetylglutamate synthase deficiency	https://omim.org/entry/237310	OMIM:237310
NANDO:2200346	自己免疫性多内分泌腺症候群1型	Autoimmune polyendocrinopathy type 1	MONDO:0009411	http://purl.obolibrary.org/obo/MONDO_0009411	http://www.w3.org/2004/02/skos/core#closeMatch	自己免疫性多内分泌腺症候群1型	autoimmune polyendocrine syndrome type 1	https://omim.org/entry/240300	OMIM:240300
NANDO:2200738	自己免疫性多腺性内分泌不全症	Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	MONDO:0009411	http://purl.obolibrary.org/obo/MONDO_0009411	http://www.w3.org/2004/02/skos/core#closeMatch	自己免疫性多内分泌腺症候群1型	autoimmune polyendocrine syndrome type 1	https://omim.org/entry/240300	OMIM:240300
NANDO:2200537	グリコーゲン合成酵素欠損症	Glycogen synthase deficiency	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	http://www.w3.org/2004/02/skos/core#closeMatch	肝グリコーゲン合成酵素欠損による糖原病	glycogen storage disorder due to hepatic glycogen synthase deficiency	https://omim.org/entry/240600	OMIM:240600
NANDO:2201119	発症前型3-ヒドロキシ-3-メチルグルタル酸血症	Presymptomatic 3-hydroxy-3-methylglutaric acidemia	MONDO:0009520	http://purl.obolibrary.org/obo/MONDO_0009520	http://www.w3.org/2004/02/skos/core#closeMatch	3-ヒドロキシ-3-メチルグルタル酸尿症	3-hydroxy-3-methylglutaric aciduria	https://omim.org/entry/246450	OMIM:246450
NANDO:2201193	新生児及び早期乳児型ガラクトシアリドーシス	Galactosialidosis, early infantile form	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	http://www.w3.org/2004/02/skos/core#closeMatch	シアリドーシス2型	sialidosis type 2	https://omim.org/entry/256150	OMIM:256150
NANDO:2201193	新生児及び早期乳児型ガラクトシアリドーシス	Galactosialidosis, early infantile form	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	http://www.w3.org/2004/02/skos/core#closeMatch	シアリドーシス2型	sialidosis type 2	https://omim.org/entry/256550	OMIM:256550
NANDO:2201241	乳児型神経セロイドリポフスチン症	Infantile neuronal ceroid lipofuscinosis	MONDO:0009744	http://purl.obolibrary.org/obo/MONDO_0009744	http://www.w3.org/2004/02/skos/core#closeMatch	神経セロイドリポフスチン症1	neuronal ceroid lipofuscinosis 1	https://omim.org/entry/256730	OMIM:256730
NANDO:2200484	高オルニチン血症	Hyperornithinemia	MONDO:0009796	http://purl.obolibrary.org/obo/MONDO_0009796	http://www.w3.org/2004/02/skos/core#closeMatch	オルニチンアミノトランスフェラーゼ欠損症	ornithine aminotransferase deficiency	https://omim.org/entry/258870	OMIM:258870
NANDO:2200486	脳回転状脈絡膜網膜萎縮症を伴う高オルニチン血症	Gyrate atrophy of choroid and retina	MONDO:0009796	http://purl.obolibrary.org/obo/MONDO_0009796	http://www.w3.org/2004/02/skos/core#closeMatch	オルニチンアミノトランスフェラーゼ欠損症	ornithine aminotransferase deficiency	https://omim.org/entry/258870	OMIM:258870
NANDO:2200436	高IgD症候群	Hyper IgD syndrome	MONDO:0009849	http://purl.obolibrary.org/obo/MONDO_0009849	http://www.w3.org/2004/02/skos/core#closeMatch	周期熱を伴う高ガンマグロブリン血症D	hyperimmunoglobulinemia D with periodic fever	https://omim.org/entry/260920	OMIM:260920
NANDO:2201075	フェニルアラニン水酸化酵素欠損症	Phenylalanine hydroxylase deficiency	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	http://www.w3.org/2004/02/skos/core#closeMatch	フェニルケトン尿症	phenylketonuria	https://omim.org/entry/261600	OMIM:261600
NANDO:2201227	新生児型マルチプルスルファターゼ欠損症	Neonatal multiple sulfatase deficiency	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	http://www.w3.org/2004/02/skos/core#closeMatch	マルチプルサルファターゼ欠損症	mucosulfatidosis	https://omim.org/entry/272200	OMIM:272200
NANDO:2201228	乳幼児型マルチプルスルファターゼ欠損症	Late-infantile multiple sulfatase deficiency	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	http://www.w3.org/2004/02/skos/core#closeMatch	マルチプルサルファターゼ欠損症	mucosulfatidosis	https://omim.org/entry/272200	OMIM:272200
NANDO:2200341	甲状腺ホルモン不応症	Resistance to thyroid hormone	MONDO:0010131	http://purl.obolibrary.org/obo/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://omim.org/entry/274300	OMIM:274300
NANDO:2200357	先天性副腎低形成症	Congenital adrenal hypoplasia	MONDO:0010264	http://purl.obolibrary.org/obo/MONDO_0010264	http://www.w3.org/2004/02/skos/core#closeMatch	X連鎖性先天性副腎低形成症	X-linked adrenal hypoplasia congenita	https://omim.org/entry/300200	OMIM:300200
NANDO:2200586	ヒポキサンチングアニンホスホリボシルトランスフェラーゼ欠損症	Lesch-Nyhan syndrome	MONDO:0010298	http://purl.obolibrary.org/obo/MONDO_0010298	http://www.w3.org/2004/02/skos/core#closeMatch	レッシュ・ナイハン症候群	Lesch-Nyhan syndrome	https://omim.org/entry/300322	OMIM:300322
NANDO:2200934	先天性多発肝内胆管拡張症	Caroli disease	MONDO:0010913	http://purl.obolibrary.org/obo/MONDO_0010913	http://www.w3.org/2004/02/skos/core#closeMatch	先天性多発肝内胆管拡張症	Caroli disease	https://omim.org/entry/600643	OMIM:600643
NANDO:2201168	Hurler病	Hurler Disease	MONDO:0011758	http://purl.obolibrary.org/obo/MONDO_0011758	http://www.w3.org/2004/02/skos/core#closeMatch	Hurler症候群	Hurler syndrome	https://omim.org/entry/607014	OMIM:607014
NANDO:2201147	発症前型三頭酵素欠損症	Presymptomatic trifunctional protein deficiency	MONDO:0012172	http://purl.obolibrary.org/obo/MONDO_0012172	http://www.w3.org/2004/02/skos/core#closeMatch	ミトコンドリア三機能タンパク欠乏症	mitochondrial trifunctional protein deficiency	https://omim.org/phenotypicSeries/PS609015	OMIMPS:609015
NANDO:2200801	CR2欠損症	CD21 deficiency	MONDO:0012584	http://purl.obolibrary.org/obo/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://omim.org/entry/610927	OMIM:610927
NANDO:2200451	PLCG2異常症	PLCg2 deficiency	MONDO:0013944	http://purl.obolibrary.org/obo/MONDO_0013944	http://www.w3.org/2004/02/skos/core#closeMatch	自己炎症-PLCG2関連抗体欠損-免疫調節障害	autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	https://omim.org/entry/614878	OMIM:614878
NANDO:2200450	DADA2	Deficiency of the enzyme ADA2	MONDO:0014306	http://purl.obolibrary.org/obo/MONDO_0014306	http://www.w3.org/2004/02/skos/core#closeMatch	アデノシンデアミナーゼ2欠損症	deficiency of adenosine deaminase 2	https://omim.org/entry/615688	OMIM:615688
NANDO:2200359	38から41までに掲げるもののほか、慢性副腎皮質機能低下症	Other chronic adrenal insufficiency	MONDO:0015129	http://purl.obolibrary.org/obo/MONDO_0015129	http://www.w3.org/2004/02/skos/core#closeMatch	慢性原発性副腎機能不全	chronic primary adrenal insufficiency	https://omim.org/entry/240200	OMIM:240200
NANDO:2200855	遺伝性運動感覚ニューロパチー	Hereditary Motor and Sensory Neuropathy	MONDO:0015626	http://purl.obolibrary.org/obo/MONDO_0015626	http://www.w3.org/2004/02/skos/core#closeMatch	シャルコー・マリー・トゥース病	Charcot-Marie-Tooth disease	https://omim.org/phenotypicSeries/PS118220	OMIMPS:118220
NANDO:2201259	後側彎型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, kyphoscoliotic type	MONDO:0016002	http://purl.obolibrary.org/obo/MONDO_0016002	http://www.w3.org/2004/02/skos/core#closeMatch	エーラス・ダンロス症候群, 後側弯型1	Ehlers-Danlos syndrome, kyphoscoliotic type 1	https://omim.org/entry/225400	OMIM:225400
NANDO:2201016	2型コラーゲン異常症関連疾患	Type II collagenopathy	MONDO:0016068	http://purl.obolibrary.org/obo/MONDO_0016068	http://www.w3.org/2004/02/skos/core#closeMatch	線維性軟骨発生症	fibrochondrogenesis	https://omim.org/phenotypicSeries/PS228520	OMIMPS:228520
NANDO:2200602	家族性高コレステロール血症	Familial hypercholesterolemia	MONDO:0016525	http://purl.obolibrary.org/obo/MONDO_0016525	http://www.w3.org/2004/02/skos/core#closeMatch	家族性高アルドステロン症	familial hyperaldosteronism	https://omim.org/phenotypicSeries/PS103900	OMIMPS:103900
NANDO:2200528	ミトコンドリアDNA欠失	Diseases due to mitochondrial DNA deletion	MONDO:0018158	http://purl.obolibrary.org/obo/MONDO_0018158	http://www.w3.org/2004/02/skos/core#closeMatch	ミトコンドリアDNA枯渇症候群	mitochondrial DNA depletion syndrome	https://omim.org/phenotypicSeries/PS603041	OMIMPS:603041
NANDO:2200948	腸管神経節細胞僅少症	Congenital Isolated Hypoganglionosis	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	http://www.w3.org/2004/02/skos/core#closeMatch	ヒルシュスプルング病	Hirschsprung disease	https://omim.org/phenotypicSeries/PS142623	OMIMPS:142623
NANDO:2200449	NLRP-12関連周期性症候群	NLRP12-associated periodic syndrome	MONDO:0018768	http://purl.obolibrary.org/obo/MONDO_0018768	http://www.w3.org/2004/02/skos/core#closeMatch	家族性寒冷自己炎症症候群	familial cold autoinflammatory syndrome	https://omim.org/phenotypicSeries/PS120100	OMIMPS:120100
NANDO:2200867	ミオチュブラーミオパチー	Myotubular myopathy	MONDO:0018947	http://purl.obolibrary.org/obo/MONDO_0018947	http://www.w3.org/2004/02/skos/core#closeMatch	中心核ミオパチー	centronuclear myopathy	https://omim.org/phenotypicSeries/PS160150	OMIMPS:160150
NANDO:2200570	酸性リパーゼ欠損症	Acid lipase deficiency	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	http://www.w3.org/2004/02/skos/core#closeMatch	酸性リパーゼ欠損症	Wolman disease	https://omim.org/entry/620151	OMIM:620151
NANDO:2200228	QT延長症候群	Long qt syndrome	MONDO:0019171	http://purl.obolibrary.org/obo/MONDO_0019171	http://www.w3.org/2004/02/skos/core#closeMatch	家族性QT延長症候群	familial long QT syndrome	https://omim.org/phenotypicSeries/PS192500	OMIMPS:192500
NANDO:2201346	軟骨低発生症	Hypochondrogenesis 	MONDO:0008703	http://purl.obolibrary.org/obo/MONDO_0008703	http://www.w3.org/2004/02/skos/core#closeMatch	遠位中間肢異形成症2A	acromesomelic dysplasia 2A	https://omim.org/entry/200700	OMIM:200700
NANDO:2201468	一次性シェーグレン症候群	Primary Sjogren's syndrome	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	http://www.w3.org/2004/02/skos/core#closeMatch	シェーグレン症候群	Sjogren syndrome	https://omim.org/entry/270150	OMIM:270150
NANDO:2201356	X連鎖性劣性末節骨短縮型点状軟骨異形成症	X-linked recessive brachytelephalangic chondrodysplasia punctata	MONDO:0010555	http://purl.obolibrary.org/obo/MONDO_0010555	http://www.w3.org/2004/02/skos/core#closeMatch	X連鎖性根性点状軟骨異形成症1	X-linked chondrodysplasia punctata 1	https://omim.org/entry/302950	OMIM:302950
NANDO:2201400	GRIN2B関連神経発達異常症	GRIN2B-related neurodevelopmental disorder	MONDO:0013509	http://purl.obolibrary.org/obo/MONDO_0013509	http://www.w3.org/2004/02/skos/core#closeMatch	知的障害, 常染色体顕性6	intellectual disability, autosomal dominant 6	https://omim.org/entry/613970	OMIM:613970
NANDO:2201400	GRIN2B関連神経発達異常症	GRIN2B-related neurodevelopmental disorder	MONDO:0014505	http://purl.obolibrary.org/obo/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://omim.org/entry/616139	OMIM:616139
NANDO:2201375	優性単純型表皮水疱症	Autosomal dominant epidermolysis bullosa simplex	MONDO:0017610	http://purl.obolibrary.org/obo/MONDO_0017610	http://www.w3.org/2004/02/skos/core#closeMatch	単純型表皮水疱症	epidermolysis bullosa simplex	https://omim.org/phenotypicSeries/PS131760	OMIMPS:131760
NANDO:2201464	S状結腸型ヒルシュスプルング病	Rectosigmoid Hirschsprung's disease	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	http://www.w3.org/2004/02/skos/core#closeMatch	ヒルシュスプルング病	Hirschsprung disease	https://omim.org/phenotypicSeries/PS142623	OMIMPS:142623
NANDO:2201466	全結腸型ヒルシュスプルング病	Entire colon Hirschsprung disease	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	http://www.w3.org/2004/02/skos/core#closeMatch	ヒルシュスプルング病	Hirschsprung disease	https://omim.org/phenotypicSeries/PS142623	OMIMPS:142623
NANDO:2201463	直腸下部型ヒルシュスプルング病	Short-segment Hirschsprung's disease	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	http://www.w3.org/2004/02/skos/core#closeMatch	ヒルシュスプルング病	Hirschsprung disease	https://omim.org/phenotypicSeries/PS142623	OMIMPS:142623
NANDO:2201465	左右結腸型ヒルシュスプルング病	Long-segment Hirschsprung's disease	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	http://www.w3.org/2004/02/skos/core#closeMatch	ヒルシュスプルング病	Hirschsprung disease	https://omim.org/phenotypicSeries/PS142623	OMIMPS:142623
NANDO:2201467	小腸型ヒルシュスプルング病	Extensive aganglionosis Hirschsprung disease	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	http://www.w3.org/2004/02/skos/core#closeMatch	ヒルシュスプルング病	Hirschsprung disease	https://omim.org/phenotypicSeries/PS142623	OMIMPS:142623
NANDO:2201391	鰓耳腎症候群	Branchio-oto-renal syndrome	MONDO:0018878	http://purl.obolibrary.org/obo/MONDO_0018878	http://www.w3.org/2004/02/skos/core#closeMatch	鰓耳症候群	branchiootic syndrome	https://omim.org/phenotypicSeries/PS602588	OMIMPS:602588
NANDO:1201115	TM/TAFI 異常症	Disorder of thrombomodulin/thrombin-activatable fibrinolysis inhibitor	MONDO:0013775	http://purl.obolibrary.org/obo/MONDO_0013775	http://www.w3.org/2004/02/skos/core#closeMatch	トロンボモジュリン関連出血性疾患	thrombomodulin-related bleeding disorder	https://omim.org/entry/614486	OMIM:614486
NANDO:1200215	ウルリッヒ病	Ullrich disease	MONDO:0000355	http://purl.obolibrary.org/obo/MONDO_0000355	http://www.w3.org/2004/02/skos/core#exactMatch	ウルリッヒ型先天性筋ジストロフィー	Ullrich congenital muscular dystrophy	https://omim.org/phenotypicSeries/PS254090	OMIMPS:254090
NANDO:1200003	脊髄性筋萎縮症	Spinal muscular atrophy	MONDO:0001516	http://purl.obolibrary.org/obo/MONDO_0001516	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄性筋萎縮症	spinal muscular atrophy	https://omim.org/phenotypicSeries/PS253300	OMIMPS:253300
NANDO:1200010	パーキンソン病	Parkinson's disease	MONDO:0005180	http://purl.obolibrary.org/obo/MONDO_0005180	http://www.w3.org/2004/02/skos/core#exactMatch	パーキンソン病	Parkinson disease	https://omim.org/phenotypicSeries/PS168600	OMIMPS:168600
NANDO:1200227	神経線維腫症II型	Neurofibromatosis type 2	MONDO:0007039	http://purl.obolibrary.org/obo/MONDO_0007039	http://www.w3.org/2004/02/skos/core#exactMatch	NF2関連神経鞘腫症	NF2-related schwannomatosis	https://omim.org/entry/101000	OMIM:101000
NANDO:1200323	アデノシンデアミナーゼ欠損症	Adenosine deaminase deficiency	MONDO:0007064	http://purl.obolibrary.org/obo/MONDO_0007064	http://www.w3.org/2004/02/skos/core#exactMatch	重症複合免疫不全症, 常染色体潜性, T細胞陰性, B細胞陰性, NK細胞陰性, アデノシンデアミナーゼ欠損による	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	https://omim.org/entry/102700	OMIM:102700
NANDO:1200041	脊髄小脳失調症3型	Spinocerebellar ataxia type 3	MONDO:0007182	http://purl.obolibrary.org/obo/MONDO_0007182	http://www.w3.org/2004/02/skos/core#exactMatch	マシャド・ジョセフ病	Machado-Joseph disease	https://omim.org/entry/109150	OMIM:109150
NANDO:1200284	ベーチェット病	Behcet's disease	MONDO:0007191	http://purl.obolibrary.org/obo/MONDO_0007191	http://www.w3.org/2004/02/skos/core#exactMatch	ベーチェット病	Behcet disease	https://omim.org/entry/109650	OMIM:109650
NANDO:1200044	脊髄小脳失調症31型	Spinocerebellar ataxia type 31	MONDO:0007296	http://purl.obolibrary.org/obo/MONDO_0007296	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄小脳失調症31型	spinocerebellar ataxia type 31	https://omim.org/entry/117210	OMIM:117210
NANDO:1200189	家族性クロイツフェルト・ヤコブ病	Familial Creutzfeldt-Jakob disease	MONDO:0007403	http://purl.obolibrary.org/obo/MONDO_0007403	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性クロイツフェルト・ヤコブ病	inherited Creutzfeldt-Jakob disease	https://omim.org/entry/123400	OMIM:123400
NANDO:1200043	歯状核赤核淡蒼球ルイ体萎縮症	Dentatorubropallidoluysian atrophy	MONDO:0007435	http://purl.obolibrary.org/obo/MONDO_0007435	http://www.w3.org/2004/02/skos/core#exactMatch	歯状核赤核淡蒼球ルイ体萎縮症	dentatorubral-pallidoluysian atrophy	https://omim.org/entry/125370	OMIM:125370
NANDO:1200190	ゲルストマン・ストロイスラー・シャインカー病	Gerstmann-Straussler-Scheinker syndrome	MONDO:0007656	http://purl.obolibrary.org/obo/MONDO_0007656	http://www.w3.org/2004/02/skos/core#exactMatch	ゲルストマン・シュトロイスラー・シャインカー症候群	Gerstmann-Straussler-Scheinker syndrome	https://omim.org/entry/137440	OMIM:137440
NANDO:1200012	ハンチントン病	Huntington's disease	MONDO:0007739	http://purl.obolibrary.org/obo/MONDO_0007739	http://www.w3.org/2004/02/skos/core#exactMatch	ハンチントン病	Huntington disease	https://omim.org/entry/143100	OMIM:143100
NANDO:1200032	封入体筋炎	Sporadic inclusion body myositis	MONDO:0007827	http://purl.obolibrary.org/obo/MONDO_0007827	http://www.w3.org/2004/02/skos/core#exactMatch	封入体筋炎	inclusion body myositis	https://omim.org/entry/147421	OMIM:147421
NANDO:1200272	全身性エリテマトーデス	Systemic lupus erythematosus	MONDO:0007915	http://purl.obolibrary.org/obo/MONDO_0007915	http://www.w3.org/2004/02/skos/core#exactMatch	全身性エリテマトーデス	systemic lupus erythematosus	https://omim.org/entry/152700	OMIM:152700
NANDO:1200272	全身性エリテマトーデス	Systemic lupus erythematosus	MONDO:0007915	http://purl.obolibrary.org/obo/MONDO_0007915	http://www.w3.org/2004/02/skos/core#exactMatch	全身性エリテマトーデス	systemic lupus erythematosus	https://omim.org/phenotypicSeries/PS601744	OMIMPS:601744
NANDO:1200220	ベスレムミオパチー	Bethlem Myopathy	MONDO:0008029	http://purl.obolibrary.org/obo/MONDO_0008029	http://www.w3.org/2004/02/skos/core#exactMatch	ベスレムミオパチー	Bethlem myopathy	https://omim.org/phenotypicSeries/PS158810	OMIMPS:158810
NANDO:1200206	HTLV-1関連脊髄症	HTLV-1-associated myelopathy	MONDO:0008039	http://purl.obolibrary.org/obo/MONDO_0008039	http://www.w3.org/2004/02/skos/core#exactMatch	熱帯性痙性不全対麻痺	tropical spastic paraparesis	https://omim.org/entry/159580	OMIM:159580
NANDO:1200045	脊髄小脳失調症1型	Spinocerebellar ataxia type 1	MONDO:0008119	http://purl.obolibrary.org/obo/MONDO_0008119	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄小脳失調症1型	spinocerebellar ataxia type 1	https://omim.org/entry/164400	OMIM:164400
NANDO:1200229	尋常性天疱瘡	Pemphigus vulgaris	MONDO:0008219	http://purl.obolibrary.org/obo/MONDO_0008219	http://www.w3.org/2004/02/skos/core#exactMatch	尋常性天疱瘡	pemphigus vulgaris	https://omim.org/entry/169610	OMIM:169610
NANDO:1200239	キンドラー症候群	Kindler syndrome	MONDO:0008260	http://purl.obolibrary.org/obo/MONDO_0008260	http://www.w3.org/2004/02/skos/core#exactMatch	キンドラー症候群	Kindler syndrome	https://omim.org/entry/173650	OMIM:173650
NANDO:1200042	脊髄小脳失調症6型	Spinocerebellar ataxia type 6	MONDO:0008457	http://purl.obolibrary.org/obo/MONDO_0008457	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄小脳失調症6型	spinocerebellar ataxia type 6	https://omim.org/entry/183086	OMIM:183086
NANDO:1200046	脊髄小脳失調症2型	Spinocerebellar ataxia type 2	MONDO:0008458	http://purl.obolibrary.org/obo/MONDO_0008458	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄小脳失調症2型	spinocerebellar ataxia type 2	https://omim.org/entry/183090	OMIM:183090
NANDO:1200258	巨細胞性動脈炎	Giant cell arteritis	MONDO:0008538	http://purl.obolibrary.org/obo/MONDO_0008538	http://www.w3.org/2004/02/skos/core#exactMatch	側頭動脈炎	temporal arteritis	https://omim.org/entry/187360	OMIM:187360
NANDO:1200315	免疫性血小板減少症	Immune thrombocytopenia	MONDO:0008558	http://purl.obolibrary.org/obo/MONDO_0008558	http://www.w3.org/2004/02/skos/core#exactMatch	自己免疫性血小板減少性紫斑病	autoimmune thrombocytopenic purpura	https://omim.org/entry/188030	OMIM:188030
NANDO:1200014	有棘赤血球舞踏病	Chorea-acanthocytosis	MONDO:0008695	http://purl.obolibrary.org/obo/MONDO_0008695	http://www.w3.org/2004/02/skos/core#exactMatch	VPS13A関連神経変性疾患	VPS13A-related neurodegenerative disease	https://omim.org/entry/200150	OMIM:200150
NANDO:1200133	アスパルチルグルコサミン尿症	Aspartylglucosaminuria	MONDO:0008830	http://purl.obolibrary.org/obo/MONDO_0008830	http://www.w3.org/2004/02/skos/core#exactMatch	アスパルチルグルコサミン尿症	aspartylglucosaminuria	https://omim.org/entry/208400	OMIM:208400
NANDO:1200331	毛細血管拡張性運動失調症	Ataxia telangiectasia	MONDO:0008840	http://purl.obolibrary.org/obo/MONDO_0008840	http://www.w3.org/2004/02/skos/core#exactMatch	毛細血管拡張性運動失調症	ataxia telangiectasia	https://omim.org/entry/208900	OMIM:208900
NANDO:1200051	アプラタキシン欠損症	Ataxia-oculomotor apraxia type 1	MONDO:0008842	http://purl.obolibrary.org/obo/MONDO_0008842	http://www.w3.org/2004/02/skos/core#exactMatch	運動失調, 早発性, 眼球運動失行および低アルブミン血症を伴う	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	https://omim.org/entry/208920	OMIM:208920
NANDO:1200329	MHCクラスII欠損症	MHC class II deficiency	MONDO:0008855	http://purl.obolibrary.org/obo/MONDO_0008855	http://www.w3.org/2004/02/skos/core#exactMatch	MHCクラスII欠損症	MHC class II deficiency	https://omim.org/phenotypicSeries/PS209920	OMIMPS:209920
NANDO:1200266	バージャー病	Buerger's disease	MONDO:0008889	http://purl.obolibrary.org/obo/MONDO_0008889	http://www.w3.org/2004/02/skos/core#exactMatch	閉塞性血栓血管炎	thromboangiitis obliterans	https://omim.org/entry/211480	OMIM:211480
NANDO:1200207	特発性基底核石灰化症	Idiopathic basal ganglia calcification	MONDO:0008947	http://purl.obolibrary.org/obo/MONDO_0008947	http://www.w3.org/2004/02/skos/core#exactMatch	両側性大脳基底核石灰化症	bilateral striopallidodentate calcinosis	https://omim.org/phenotypicSeries/PS213600	OMIMPS:213600
NANDO:1200164	非腎型シスチン症	Non-nephropathic cystinosis 	MONDO:0009064	http://purl.obolibrary.org/obo/MONDO_0009064	http://www.w3.org/2004/02/skos/core#exactMatch	眼型シスチン症	ocular cystinosis	https://omim.org/entry/219750	OMIM:219750
NANDO:1200163	中間型シスチン症	Intermediate cystinosis	MONDO:0009066	http://purl.obolibrary.org/obo/MONDO_0009066	http://www.w3.org/2004/02/skos/core#exactMatch	中間型シスチン症	juvenile nephropathic cystinosis	https://omim.org/entry/219900	OMIM:219900
NANDO:1200238	劣性栄養障害型表皮水疱症	Recessive dystrophic epidermolysis bullosa	MONDO:0009179	http://purl.obolibrary.org/obo/MONDO_0009179	http://www.w3.org/2004/02/skos/core#exactMatch	劣性栄養障害型表皮水疱症	recessive dystrophic epidermolysis bullosa	https://omim.org/entry/226600	OMIM:226600
NANDO:1200086	ファーバー病	Farber disease	MONDO:0009218	http://purl.obolibrary.org/obo/MONDO_0009218	http://www.w3.org/2004/02/skos/core#exactMatch	ファーバー脂肪肉芽腫症	Farber lipogranulomatosis	https://omim.org/entry/228000	OMIM:228000
NANDO:1200130	フコシドーシス	Fucosidosis	MONDO:0009254	http://purl.obolibrary.org/obo/MONDO_0009254	http://www.w3.org/2004/02/skos/core#exactMatch	フコシドーシス	fucosidosis	https://omim.org/entry/230000	OMIM:230000
NANDO:1200067	乳児型GM1-ガングリオシドーシス	Infantile GM1 gangliosidosis	MONDO:0009260	http://purl.obolibrary.org/obo/MONDO_0009260	http://www.w3.org/2004/02/skos/core#exactMatch	GM1ガングリオシドーシス1型	GM1 gangliosidosis type 1	https://omim.org/entry/230500	OMIM:230500
NANDO:1200068	若年型GM1-ガングリオシドーシス	Juvenile GM1 gangliosidosis	MONDO:0009261	http://purl.obolibrary.org/obo/MONDO_0009261	http://www.w3.org/2004/02/skos/core#exactMatch	GM1ガングリオシドーシス2型	GM1 gangliosidosis type 2	https://omim.org/entry/230600	OMIM:230600
NANDO:1200069	成人型GM1-ガングリオシドーシス	Adult GM1 gangliosidosis	MONDO:0009262	http://purl.obolibrary.org/obo/MONDO_0009262	http://www.w3.org/2004/02/skos/core#exactMatch	GM1ガングリオシドーシス3型	GM1 gangliosidosis type 3	https://omim.org/entry/230650	OMIM:230650
NANDO:1200057	ゴーシェ病1型	Gaucher disease type 1	MONDO:0009265	http://purl.obolibrary.org/obo/MONDO_0009265	http://www.w3.org/2004/02/skos/core#exactMatch	ゴーシェ病I型	Gaucher disease type I	https://omim.org/entry/230800	OMIM:230800
NANDO:1200058	ゴーシェ病2型	Gaucher disease type 2	MONDO:0009266	http://purl.obolibrary.org/obo/MONDO_0009266	http://www.w3.org/2004/02/skos/core#exactMatch	ゴーシェ病II型	Gaucher disease type II	https://omim.org/entry/230900	OMIM:230900
NANDO:1200059	ゴーシェ病3型	Gaucher disease type 3	MONDO:0009267	http://purl.obolibrary.org/obo/MONDO_0009267	http://www.w3.org/2004/02/skos/core#exactMatch	ゴーシェ病III型	Gaucher disease type III	https://omim.org/entry/231000	OMIM:231000
NANDO:1200074	クラッベ病	Krabbe disease	MONDO:0009499	http://purl.obolibrary.org/obo/MONDO_0009499	http://www.w3.org/2004/02/skos/core#exactMatch	クラッベ病	Krabbe disease	https://omim.org/entry/245200	OMIM:245200
NANDO:1200126	α-マンノシドーシス	Alpha-mannosidosis	MONDO:0009561	http://purl.obolibrary.org/obo/MONDO_0009561	http://www.w3.org/2004/02/skos/core#exactMatch	α-マンノシドーシス	alpha-mannosidosis	https://omim.org/entry/248500	OMIM:248500
NANDO:1200129	β-マンノシドーシス	Beta-mannosidosis	MONDO:0009562	http://purl.obolibrary.org/obo/MONDO_0009562	http://www.w3.org/2004/02/skos/core#exactMatch	β-マンノシドーシス	beta-mannosidosis	https://omim.org/entry/248510	OMIM:248510
NANDO:1200082	サポシンB欠損症	Saposin B deficiency	MONDO:0009590	http://purl.obolibrary.org/obo/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://omim.org/entry/249900	OMIM:249900
NANDO:1200080	若年型異染性白質ジストロフィー	Juvenile ｍetachromatic leukodystrophy	MONDO:0009591	http://purl.obolibrary.org/obo/MONDO_0009591	http://www.w3.org/2004/02/skos/core#exactMatch	異染性白質ジストロフィー, 若年型	metachromatic leukodystrophy, juvenile form	https://omim.org/entry/250100	OMIM:250100
NANDO:1200124	ムコリピドーシスII型	Mucolipidosis II	MONDO:0009650	http://purl.obolibrary.org/obo/MONDO_0009650	http://www.w3.org/2004/02/skos/core#exactMatch	ムコリピドーシスII型	mucolipidosis type II	https://omim.org/entry/252500	OMIM:252500
NANDO:1200101	サンフィリッポ症候群A型	Sanfilippo disease type A	MONDO:0009655	http://purl.obolibrary.org/obo/MONDO_0009655	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症, 3A型	mucopolysaccharidosis type 3A	https://omim.org/entry/252900	OMIM:252900
NANDO:1200102	サンフィリッポ症候群B型	Sanfilippo disease type B	MONDO:0009656	http://purl.obolibrary.org/obo/MONDO_0009656	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症, 10型	mucopolysaccharidosis type 3B	https://omim.org/entry/252920	OMIM:252920
NANDO:1200103	サンフィリッポ症候群C型	Sanfilippo disease type C	MONDO:0009657	http://purl.obolibrary.org/obo/MONDO_0009657	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症, 3B型	mucopolysaccharidosis type 3C	https://omim.org/entry/252930	OMIM:252930
NANDO:1200104	サンフィリッポ症候群D型	Sanfilippo disease type D	MONDO:0009658	http://purl.obolibrary.org/obo/MONDO_0009658	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症, 3C型	mucopolysaccharidosis type 3D	https://omim.org/entry/252940	OMIM:252940
NANDO:1200106	モルキオ症候群A型	Morquio syndrome type A	MONDO:0009659	http://purl.obolibrary.org/obo/MONDO_0009659	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症4A型	mucopolysaccharidosis type 4A	https://omim.org/entry/253000	OMIM:253000
NANDO:1200107	モルキオ症候群B型	Morquio syndrome type B	MONDO:0009660	http://purl.obolibrary.org/obo/MONDO_0009660	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症4B型	mucopolysaccharidosis type 4B	https://omim.org/entry/253010	OMIM:253010
NANDO:1200108	マロトー・ラミー症候群	Maroteaux-Lamy syndrome	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症6型	mucopolysaccharidosis type 6	https://omim.org/entry/253200	OMIM:253200
NANDO:1200111	Sly病	Sly syndrome	MONDO:0009662	http://purl.obolibrary.org/obo/MONDO_0009662	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症7型	mucopolysaccharidosis type 7	https://omim.org/entry/253220	OMIM:253220
NANDO:1200004	脊髄性筋萎縮症I型	Spinal muscular atrophy type I	MONDO:0009669	http://purl.obolibrary.org/obo/MONDO_0009669	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄性筋萎縮症1型	spinal muscular atrophy, type 1	https://omim.org/entry/253300	OMIM:253300
NANDO:1200006	脊髄性筋萎縮症III型	Spinal muscular atrophy type III	MONDO:0009672	http://purl.obolibrary.org/obo/MONDO_0009672	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄性筋萎縮症III型	spinal muscular atrophy, type III	https://omim.org/entry/253400	OMIM:253400
NANDO:1200005	脊髄性筋萎縮症II型	Spinal muscular atrophy type II	MONDO:0009673	http://purl.obolibrary.org/obo/MONDO_0009673	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄性筋萎縮症II型	spinal muscular atrophy, type II	https://omim.org/entry/253550	OMIM:253550
NANDO:1200217	三好型ミオパチー	Miyoshi myopathy	MONDO:0009685	http://purl.obolibrary.org/obo/MONDO_0009685	http://www.w3.org/2004/02/skos/core#exactMatch	三好型ミオパチー	Miyoshi myopathy	https://omim.org/phenotypicSeries/PS254130	OMIMPS:254130
NANDO:1200020	重症筋無力症	Myasthenia gravis	MONDO:0009688	http://purl.obolibrary.org/obo/MONDO_0009688	http://www.w3.org/2004/02/skos/core#exactMatch	重症筋無力症	myasthenia gravis	https://omim.org/entry/254200	OMIM:254200
NANDO:1200334	ICF症候群	ICF syndrome	MONDO:0000133	http://purl.obolibrary.org/obo/MONDO_0000133	http://www.w3.org/2004/02/skos/core#exactMatch	免疫不全-動原体不安定性-顔面奇形症候群	immunodeficiency-centromeric instability-facial anomalies syndrome	https://omim.org/phenotypicSeries/PS242860	OMIMPS:242860
NANDO:1200491	顔面肩甲上腕型筋ジストロフィー	Facioscapulohumeral muscular dystrophy	MONDO:0001347	http://purl.obolibrary.org/obo/MONDO_0001347	http://www.w3.org/2004/02/skos/core#exactMatch	顔面肩甲上腕型筋ジストロフィー	facioscapulohumeral muscular dystrophy	https://omim.org/phenotypicSeries/PS158900	OMIMPS:158900
NANDO:1200607	結節性硬化症	Tuberous sclerosis complex	MONDO:0001734	http://purl.obolibrary.org/obo/MONDO_0001734	http://www.w3.org/2004/02/skos/core#exactMatch	結節性硬化症	tuberous sclerosis	https://omim.org/phenotypicSeries/PS191100	OMIMPS:191100
NANDO:1200345	高IgM症候群	Hyper-IgM syndrome	MONDO:0003947	http://purl.obolibrary.org/obo/MONDO_0003947	http://www.w3.org/2004/02/skos/core#exactMatch	高IgM症候群	hyper-IgM syndrome	https://omim.org/phenotypicSeries/PS308230	OMIMPS:308230
NANDO:1200439	原発性胆汁性胆管炎	Primary biliary cholangitis	MONDO:0005388	http://purl.obolibrary.org/obo/MONDO_0005388	http://www.w3.org/2004/02/skos/core#exactMatch	原発性胆汁性胆管炎	primary biliary cholangitis	https://omim.org/phenotypicSeries/PS109720	OMIMPS:109720
NANDO:1200675	鰓耳腎症候群	Branchio-oto-renal syndrome	MONDO:0007029	http://purl.obolibrary.org/obo/MONDO_0007029	http://www.w3.org/2004/02/skos/core#exactMatch	鰓耳腎症候群	branchio-oto-renal syndrome	https://omim.org/phenotypicSeries/PS113650	OMIMPS:113650
NANDO:1200667	アペール症候群	Apert syndrome	MONDO:0007041	http://purl.obolibrary.org/obo/MONDO_0007041	http://www.w3.org/2004/02/skos/core#exactMatch	アペール症候群	Apert syndrome	https://omim.org/entry/101200	OMIM:101200
NANDO:1200668	ファイファー症候群	Pfeiffer syndrome	MONDO:0007043	http://purl.obolibrary.org/obo/MONDO_0007043	http://www.w3.org/2004/02/skos/core#exactMatch	ファイファー症候群	Pfeiffer syndrome	https://omim.org/entry/101600	OMIM:101600
NANDO:1200479	セントラルコア病	Central core disease	MONDO:0007294	http://purl.obolibrary.org/obo/MONDO_0007294	http://www.w3.org/2004/02/skos/core#exactMatch	セントラルコアミオパチー	central core myopathy	https://omim.org/entry/117000	OMIM:117000
NANDO:1200666	クルーゾン症候群	Crouzon's syndrome	MONDO:0007405	http://purl.obolibrary.org/obo/MONDO_0007405	http://www.w3.org/2004/02/skos/core#exactMatch	クルーゾン症候群	Crouzon syndrome	https://omim.org/entry/123500	OMIM:123500
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://purl.obolibrary.org/obo/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://omim.org/phenotypicSeries/PS125310	OMIMPS:125310
NANDO:1200375	中枢性尿崩症	Central diabetes insipidus	MONDO:0007450	http://purl.obolibrary.org/obo/MONDO_0007450	http://www.w3.org/2004/02/skos/core#exactMatch	神経下垂体性尿崩症	neurohypophyseal diabetes insipidus	https://omim.org/entry/125700	OMIM:125700
NANDO:1200512	DYT1ジストニア	Dystonia 1	MONDO:0007492	http://purl.obolibrary.org/obo/MONDO_0007492	http://www.w3.org/2004/02/skos/core#exactMatch	早発性全身性四肢発症型ジストニア	early-onset generalized limb-onset dystonia	https://omim.org/entry/128100	OMIM:128100
NANDO:1200515	DYT4ジストニア	Dystonia 4	MONDO:0007493	http://purl.obolibrary.org/obo/MONDO_0007493	http://www.w3.org/2004/02/skos/core#exactMatch	捻転ジストニア4	torsion dystonia 4	https://omim.org/entry/128101	OMIM:128101
NANDO:1200523	DYT12ジストニア	Dystonia 12	MONDO:0007496	http://purl.obolibrary.org/obo/MONDO_0007496	http://www.w3.org/2004/02/skos/core#exactMatch	ジストニア12	dystonia 12	https://omim.org/entry/128235	OMIM:128235
NANDO:1200647	関節型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, hypermobility type	MONDO:0007523	http://purl.obolibrary.org/obo/MONDO_0007523	http://www.w3.org/2004/02/skos/core#exactMatch	エーラス・ダンロス症候群, 関節過可動型	Ehlers-Danlos syndrome, hypermobility type	https://omim.org/entry/130020	OMIM:130020
NANDO:1200472	TNF受容体関連周期性症候群	TNF receptor-associated periodic fever syndrome	MONDO:0007727	http://purl.obolibrary.org/obo/MONDO_0007727	http://www.w3.org/2004/02/skos/core#exactMatch	TNF受容体1関連周期性発熱症候群	TNF receptor 1-associated periodic fever syndrome	https://omim.org/entry/142680	OMIM:142680
NANDO:1200613	表在性表皮融解性魚鱗癬	Superficial epidermolytic ichthyosis	MONDO:0007813	http://purl.obolibrary.org/obo/MONDO_0007813	http://www.w3.org/2004/02/skos/core#exactMatch	表在性表皮融解性魚鱗癬	superficial epidermolytic ichthyosis	https://omim.org/entry/146800	OMIM:146800
NANDO:1200644	マルファン症候群／ロイス・ディーツ症候群	Marfan syndrome/Loeys-Dietz Syndrome	MONDO:0007947	http://purl.obolibrary.org/obo/MONDO_0007947	http://www.w3.org/2004/02/skos/core#exactMatch	マルファン症候群	Marfan syndrome	https://omim.org/entry/154700	OMIM:154700
NANDO:1200559	メビウス症候群	Moebius syndrome	MONDO:0008006	http://purl.obolibrary.org/obo/MONDO_0008006	http://www.w3.org/2004/02/skos/core#exactMatch	メビウス症候群	Mobius syndrome	https://omim.org/entry/157900	OMIM:157900
NANDO:1200354	周期性好中球減少症	Cyclic neutropenia	MONDO:0008090	http://purl.obolibrary.org/obo/MONDO_0008090	http://www.w3.org/2004/02/skos/core#exactMatch	周期性好中球減少症	cyclic hematopoiesis	https://omim.org/entry/162800	OMIM:162800
NANDO:1200493	眼咽頭筋型筋ジストロフィー	Oculopharyngeal muscular dystrophy	MONDO:0008116	http://purl.obolibrary.org/obo/MONDO_0008116	http://www.w3.org/2004/02/skos/core#exactMatch	眼咽頭筋型筋ジストロフィー	oculopharyngeal muscular dystrophy	https://omim.org/phenotypicSeries/PS164300	OMIMPS:164300
NANDO:1200501	先天性パラミオトニー	Paramyotonia congenita	MONDO:0008195	http://purl.obolibrary.org/obo/MONDO_0008195	http://www.w3.org/2004/02/skos/core#exactMatch	Von Eulenburg先天性パラミオトニア	paramyotonia congenita of Von Eulenburg	https://omim.org/entry/168300	OMIM:168300
NANDO:1200547	ペリー病	Perry disease	MONDO:0008201	http://purl.obolibrary.org/obo/MONDO_0008201	http://www.w3.org/2004/02/skos/core#exactMatch	ペリー症候群	Perry syndrome	https://omim.org/entry/168605	OMIM:168605
NANDO:1200631	家族性良性慢性天疱瘡	Benign familial pemphigus	MONDO:0008218	http://purl.obolibrary.org/obo/MONDO_0008218	http://www.w3.org/2004/02/skos/core#exactMatch	ヘイリー・ヘイリー病	Hailey-Hailey disease	https://omim.org/entry/169600	OMIM:169600
NANDO:1200504	遺伝性高カリウム性周期性四肢麻痺	Hereditary hyperkalemic periodic paralysis	MONDO:0008224	http://purl.obolibrary.org/obo/MONDO_0008224	http://www.w3.org/2004/02/skos/core#exactMatch	高カリウム性周期性四肢麻痺	hyperkalemic periodic paralysis	https://omim.org/entry/170500	OMIM:170500
NANDO:1200678	プラダー・ウィリ症候群	Prader-Willi syndrome	MONDO:0008300	http://purl.obolibrary.org/obo/MONDO_0008300	http://www.w3.org/2004/02/skos/core#exactMatch	プラダー・ウィリ症候群	Prader-Willi syndrome	https://omim.org/entry/176270	OMIM:176270
NANDO:1200606	スタージ・ウェーバー症候群	Sturge-Weber syndrome	MONDO:0008501	http://purl.obolibrary.org/obo/MONDO_0008501	http://www.w3.org/2004/02/skos/core#exactMatch	スタージ・ウェーバー症候群	Sturge-Weber syndrome	https://omim.org/entry/185300	OMIM:185300
NANDO:1200558	先天性核上性球麻痺	Congenital suprabulbar paresis	MONDO:0008503	http://purl.obolibrary.org/obo/MONDO_0008503	http://www.w3.org/2004/02/skos/core#exactMatch	先天性核上性球麻痺	Worster-Drought syndrome	https://omim.org/entry/185480	OMIM:185480
NANDO:1200476	ブラウ症候群	Blau syndrome	MONDO:0008523	http://purl.obolibrary.org/obo/MONDO_0008523	http://www.w3.org/2004/02/skos/core#exactMatch	ブラウ症候群	Blau syndrome	https://omim.org/entry/186580	OMIM:186580
NANDO:1200467	マックル・ウェルズ症候群	Muckle-Wells syndrome	MONDO:0008633	http://purl.obolibrary.org/obo/MONDO_0008633	http://www.w3.org/2004/02/skos/core#exactMatch	マックル・ウェルズ症候群	Muckle-Wells syndrome	https://omim.org/entry/191900	OMIM:191900
NANDO:1200657	VATER症候群	VATER syndrome	MONDO:0008642	http://purl.obolibrary.org/obo/MONDO_0008642	http://www.w3.org/2004/02/skos/core#exactMatch	VATER/VATER連合	VACTERL/vater association	https://omim.org/entry/192350	OMIM:192350
NANDO:1200664	ウィリアムズ症候群	Williams syndrome	MONDO:0008678	http://purl.obolibrary.org/obo/MONDO_0008678	http://www.w3.org/2004/02/skos/core#exactMatch	ウィリアムズ症候群	Williams syndrome	https://omim.org/entry/194050	OMIM:194050
NANDO:1200398	3β−水酸化ステロイド脱水素酵素欠損症	3-β-Hydroxysteroid dehydrogenase deficiency	MONDO:0008727	http://purl.obolibrary.org/obo/MONDO_0008727	http://www.w3.org/2004/02/skos/core#exactMatch	3β-ヒドロキシステロイド脱水素酵素欠損による先天性副腎過形成	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	https://omim.org/entry/201810	OMIM:201810
NANDO:1200399	21-水酸化酵素欠損症	21-Hydroxylase deficiency	MONDO:0008728	http://purl.obolibrary.org/obo/MONDO_0008728	http://www.w3.org/2004/02/skos/core#exactMatch	21水酸化酵素欠損による古典型先天性副腎過形成	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	https://omim.org/entry/201910	OMIM:201910
NANDO:1200400	11β-水酸化酵素欠損症	11-β-Hydroxylase deficiency	MONDO:0008729	http://purl.obolibrary.org/obo/MONDO_0008729	http://www.w3.org/2004/02/skos/core#exactMatch	11β-水酸化酵素欠損による先天性副腎過形成	congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	https://omim.org/entry/202010	OMIM:202010
NANDO:1200401	17α−水酸化酵素欠損症	17-α-Hydroxylase deficiency	MONDO:0008730	http://purl.obolibrary.org/obo/MONDO_0008730	http://www.w3.org/2004/02/skos/core#exactMatch	17α-水酸化酵素欠損による先天性副腎過形成	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	https://omim.org/entry/202110	OMIM:202110
NANDO:1200460	腸管神経節細胞僅少症	Congenital isolated hypoganglionosis	MONDO:0008738	http://purl.obolibrary.org/obo/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://omim.org/entry/202550	OMIM:202550
NANDO:1200554	アレキサンダー病	Alexander disease	MONDO:0008752	http://purl.obolibrary.org/obo/MONDO_0008752	http://www.w3.org/2004/02/skos/core#exactMatch	アレキサンダー病	Alexander disease	https://omim.org/entry/203450	OMIM:203450
NANDO:1200333	ブルーム症候群	Bloom syndrome	MONDO:0008876	http://purl.obolibrary.org/obo/MONDO_0008876	http://www.w3.org/2004/02/skos/core#exactMatch	ブルーム症候群	Bloom syndrome	https://omim.org/entry/210900	OMIM:210900
NANDO:1200350	チェディアック・東症候群	Chédiak-Higashi syndrome	MONDO:0008963	http://purl.obolibrary.org/obo/MONDO_0008963	http://www.w3.org/2004/02/skos/core#exactMatch	チェディアック・東症候群	Chediak-Higashi syndrome	https://omim.org/entry/214500	OMIM:214500
NANDO:1200463	コステロ症候群	Costello syndrome	MONDO:0009026	http://purl.obolibrary.org/obo/MONDO_0009026	http://www.w3.org/2004/02/skos/core#exactMatch	コステロ症候群	Costello syndrome	https://omim.org/entry/218040	OMIM:218040
NANDO:1200379	クッシング病	Cushing disease	MONDO:0009050	http://purl.obolibrary.org/obo/MONDO_0009050	http://www.w3.org/2004/02/skos/core#exactMatch	下垂体腺腫によるクッシング病	Cushing disease due to pituitary adenoma	https://omim.org/entry/219090	OMIM:219090
NANDO:1200658	那須・ハコラ病	Nasu-Hakola disease	MONDO:0009092	http://purl.obolibrary.org/obo/MONDO_0009092	http://www.w3.org/2004/02/skos/core#exactMatch	硬化性白質脳症を伴う多囊胞性脂肪膜性骨異形成症	polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	https://omim.org/phenotypicSeries/PS221770	OMIMPS:221770
NANDO:1200513	DYT2ジストニア	Dystonia 2	MONDO:0009141	http://purl.obolibrary.org/obo/MONDO_0009141	http://www.w3.org/2004/02/skos/core#exactMatch	捻転ジストニア2	torsion dystonia 2	https://omim.org/entry/224500	OMIM:224500
NANDO:1200651	皮膚脆弱型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, dermatosparaxis type	MONDO:0009161	http://purl.obolibrary.org/obo/MONDO_0009161	http://www.w3.org/2004/02/skos/core#exactMatch	エーラス・ダンロス症候群, 皮膚脆弱型	Ehlers-Danlos syndrome, dermatosparaxis type	https://omim.org/entry/225410	OMIM:225410
NANDO:1200410	Allgrove症候群	Allgrove syndrome	MONDO:0009279	http://purl.obolibrary.org/obo/MONDO_0009279	http://www.w3.org/2004/02/skos/core#exactMatch	AAA症候群	triple-A syndrome	https://omim.org/entry/231550	OMIM:231550
NANDO:1200534	NBIA1	Neurodegeneration with brain iron accumulation type 1	MONDO:0009319	http://purl.obolibrary.org/obo/MONDO_0009319	http://www.w3.org/2004/02/skos/core#exactMatch	パントテン酸キナーゼ関連神経変性症	pantothenate kinase-associated neurodegeneration	https://omim.org/entry/234200	OMIM:234200
NANDO:1200341	肝中心静脈閉鎖症を伴う免疫不全症	Hepatic veno-occlusive disease with immunodeficiency	MONDO:0009338	http://purl.obolibrary.org/obo/MONDO_0009338	http://www.w3.org/2004/02/skos/core#exactMatch	肝静脈閉塞症-免疫不全症候群	hepatic veno-occlusive disease-immunodeficiency syndrome	https://omim.org/entry/235550	OMIM:235550
NANDO:1200663	モワット・ウィルソン症候群	Mowat-Wilson syndrome	MONDO:0009341	http://purl.obolibrary.org/obo/MONDO_0009341	http://www.w3.org/2004/02/skos/core#exactMatch	モワット・ウィルソン症候群	Mowat-Wilson syndrome	https://omim.org/entry/235730	OMIM:235730
NANDO:1200614	道化師様魚鱗癬	Harlequin ichthyosis	MONDO:0009443	http://purl.obolibrary.org/obo/MONDO_0009443	http://www.w3.org/2004/02/skos/core#exactMatch	常染色体潜性先天性魚鱗癬4B	autosomal recessive congenital ichthyosis 4B	https://omim.org/entry/242500	OMIM:242500
NANDO:1200337	シムケ症候群	Schimke syndrome	MONDO:0009458	http://purl.obolibrary.org/obo/MONDO_0009458	http://www.w3.org/2004/02/skos/core#exactMatch	シムケ免疫・骨異形成症	Schimke immuno-osseous dysplasia	https://omim.org/entry/242900	OMIM:242900
NANDO:1200662	有馬症候群	Arima syndrome	MONDO:0009480	http://purl.obolibrary.org/obo/MONDO_0009480	http://www.w3.org/2004/02/skos/core#exactMatch	眼腎障害を伴うジュベール症候群	Joubert syndrome with oculorenal defect	https://omim.org/entry/243910	OMIM:243910
NANDO:1200424	リンパ球性間質性肺炎	Lymphoid interstitial pneumonia	MONDO:0009537	http://purl.obolibrary.org/obo/MONDO_0009537	http://www.w3.org/2004/02/skos/core#exactMatch	リンパ球性間質性肺炎	lymphoid interstitial pneumonia	https://omim.org/entry/247610	OMIM:247610
NANDO:1200485	マリネスコ・シェーグレン症候群	Marinesco-Sjogren syndrome	MONDO:0009567	http://purl.obolibrary.org/obo/MONDO_0009567	http://www.w3.org/2004/02/skos/core#exactMatch	マリネスコ・シェーグレン症候群	Marinesco-Sjogren syndrome	https://omim.org/entry/248800	OMIM:248800
NANDO:1200332	ナイミーヘン染色体不安定症候群	Nijmegen breakage syndrome	MONDO:0009623	http://purl.obolibrary.org/obo/MONDO_0009623	http://www.w3.org/2004/02/skos/core#exactMatch	ナイミーヘン染色体不安定症候群	Nijmegen breakage syndrome	https://omim.org/entry/251260	OMIM:251260
NANDO:1200494	福山型先天性筋ジストロフィー	Fukuyama type congenital muscular dystrophy	MONDO:0009678	http://purl.obolibrary.org/obo/MONDO_0009678	http://www.w3.org/2004/02/skos/core#exactMatch	筋ジストロフィー-ジストログリカノパチー（脳および眼の奇形を伴う先天性）, A型, 4	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	https://omim.org/entry/253800	OMIM:253800
NANDO:1200358	ミエロペルオキシダーゼ欠損症	Myeloperoxidase deficiency	MONDO:0009694	http://purl.obolibrary.org/obo/MONDO_0009694	http://www.w3.org/2004/02/skos/core#exactMatch	ミエロペルオキシダーゼ欠損症	myeloperoxidase deficiency	https://omim.org/entry/254600	OMIM:254600
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://purl.obolibrary.org/obo/MONDO_0000188	http://www.w3.org/2004/02/skos/core#exactMatch	GLUT1欠損症	GLUT1 deficiency syndrome	https://omim.org/phenotypicSeries/PS606777	OMIMPS:606777
NANDO:1200932	卵黄様黄斑ジストロフィー	Vitelliform macular dystrophy	MONDO:0000390	http://purl.obolibrary.org/obo/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://omim.org/phenotypicSeries/PS153840	OMIMPS:153840
NANDO:1200815	赤芽球性プロトポルフィリン症	Erythropoietic protoporphyria	MONDO:0001676	http://purl.obolibrary.org/obo/MONDO_0001676	http://www.w3.org/2004/02/skos/core#exactMatch	赤芽球性プロトポルフィリン症	erythropoietic protoporphyria	https://omim.org/phenotypicSeries/PS177000	OMIMPS:177000
NANDO:1200793	メチルマロン酸血症	Methylmalonic acidemia	MONDO:0002012	http://purl.obolibrary.org/obo/MONDO_0002012	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸血症	methylmalonic acidemia	https://omim.org/phenotypicSeries/PS251000	OMIMPS:251000
NANDO:1200705	左心低形成症候群	Hypoplastic left heart syndrome	MONDO:0004933	http://purl.obolibrary.org/obo/MONDO_0004933	http://www.w3.org/2004/02/skos/core#exactMatch	左心低形成症候群	hypoplastic left heart syndrome	https://omim.org/phenotypicSeries/PS241550	OMIMPS:241550
NANDO:1200722	巣状分節性糸球体硬化症	Focal segmental glomerulosclerosis	MONDO:0005363	http://purl.obolibrary.org/obo/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://omim.org/phenotypicSeries/PS603278	OMIMPS:603278
NANDO:1200911	先天性横隔膜ヘルニア	Congenital diaphragmatic hernia	MONDO:0005711	http://purl.obolibrary.org/obo/MONDO_0005711	http://www.w3.org/2004/02/skos/core#exactMatch	先天性横隔膜ヘルニア	congenital diaphragmatic hernia	https://omim.org/phenotypicSeries/PS142340	OMIMPS:142340
NANDO:1200859	先天性全身性脂肪萎縮症	Generalized congenital lipodystrophy	MONDO:0006536	http://purl.obolibrary.org/obo/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://omim.org/phenotypicSeries/PS608594	OMIMPS:608594
NANDO:1200877	軟骨無形成症	Achondroplasia	MONDO:0007037	http://purl.obolibrary.org/obo/MONDO_0007037	http://www.w3.org/2004/02/skos/core#exactMatch	軟骨無形成症	achondroplasia	https://omim.org/entry/100800	OMIM:100800
NANDO:1200888	先天性赤血球形成異常性貧血 Type III	Congenital dyserythropoietic anemia type III	MONDO:0007109	http://purl.obolibrary.org/obo/MONDO_0007109	http://www.w3.org/2004/02/skos/core#exactMatch	先天性赤血球形成異常性貧血III型	congenital dyserythropoietic anemia type 3	https://omim.org/entry/105600	OMIM:105600
NANDO:1200686	アンジェルマン症候群	Angelman syndrome	MONDO:0007113	http://purl.obolibrary.org/obo/MONDO_0007113	http://www.w3.org/2004/02/skos/core#exactMatch	アンジェルマン症候群	Angelman syndrome	https://omim.org/entry/105830	OMIM:105830
NANDO:1200918	アラジール症候群	Alagille syndrome	MONDO:0007318	http://purl.obolibrary.org/obo/MONDO_0007318	http://www.w3.org/2004/02/skos/core#exactMatch	アラジール症候群	Alagille syndrome	https://omim.org/phenotypicSeries/PS118450	OMIMPS:118450
NANDO:1200813	遺伝性コプロポルフィリン症	Hereditary coproporphyria	MONDO:0007369	http://purl.obolibrary.org/obo/MONDO_0007369	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性コプロポルフィリン症	hereditary coproporphyria	https://omim.org/entry/121300	OMIM:121300
NANDO:1200684	5p欠失症候群	5p deletion syndrome	MONDO:0007404	http://purl.obolibrary.org/obo/MONDO_0007404	http://www.w3.org/2004/02/skos/core#exactMatch	ネコ鳴き症候群	Cri-du-chat syndrome	https://omim.org/entry/123450	OMIM:123450
NANDO:1200878	リンパ管腫症/ゴーハム病	Lymphangiomatosis / Gorham-Stout disease	MONDO:0007414	http://purl.obolibrary.org/obo/MONDO_0007414	http://www.w3.org/2004/02/skos/core#exactMatch	ゴーハム・スタウト病	Gorham-Stout disease	https://omim.org/entry/123880	OMIM:123880
NANDO:1200871	進行性骨化性線維異形成症	Fibrodysplasia ossificans progressiva	MONDO:0007606	http://purl.obolibrary.org/obo/MONDO_0007606	http://www.w3.org/2004/02/skos/core#exactMatch	進行性骨化性線維異形成症	fibrodysplasia ossificans progressiva	https://omim.org/entry/135100	OMIM:135100
NANDO:1200884	クリッペル・トレノネー・ウェーバー症候群	Klippel-Trenaunay-Weber syndrome	MONDO:0007864	http://purl.obolibrary.org/obo/MONDO_0007864	http://www.w3.org/2004/02/skos/core#exactMatch	血管骨肥大症候群	angioosteohypertrophic syndrome	https://omim.org/entry/149000	OMIM:149000
NANDO:1200921	遺伝性膵炎	Hereditary pancreatitis	MONDO:0008185	http://purl.obolibrary.org/obo/MONDO_0008185	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性慢性膵炎	hereditary chronic pancreatitis	https://omim.org/entry/167800	OMIM:167800
NANDO:1200901	クロンカイト・カナダ症候群	Cronkhite-Canada syndrome	MONDO:0008283	http://purl.obolibrary.org/obo/MONDO_0008283	http://www.w3.org/2004/02/skos/core#exactMatch	クロンカイト・カナダ症候群	Cronkhite-Canada syndrome	https://omim.org/entry/175500	OMIM:175500
NANDO:1200812	急性間欠性ポルフィリン症	Acute intermittent porphyria	MONDO:0008294	http://purl.obolibrary.org/obo/MONDO_0008294	http://www.w3.org/2004/02/skos/core#exactMatch	急性間欠性ポルフィリン症	acute intermittent porphyria	https://omim.org/entry/176000	OMIM:176000
NANDO:1200814	異型ポルフィリン症	Variegate porphyria	MONDO:0008297	http://purl.obolibrary.org/obo/MONDO_0008297	http://www.w3.org/2004/02/skos/core#exactMatch	異型ポルフィリン症	variegate porphyria	https://omim.org/entry/176200	OMIM:176200
NANDO:1200708	心室中隔欠損を伴う肺動脈閉鎖症	Pulmonary atresia with ventricular septal defect	MONDO:0008343	http://purl.obolibrary.org/obo/MONDO_0008343	http://www.w3.org/2004/02/skos/core#exactMatch	心室中隔欠損を伴う肺動脈閉鎖症	pulmonary atresia with ventricular septal defect	https://omim.org/entry/178370	OMIM:178370
NANDO:1200751	肺胞低換気症候群	Alveolar hypoventilation syndrome	MONDO:0008346	http://purl.obolibrary.org/obo/MONDO_0008346	http://www.w3.org/2004/02/skos/core#exactMatch	肺血鉄症	pulmonary hemosiderosis	https://omim.org/entry/178550	OMIM:178550
NANDO:1200687	スミス・マギニス症候群	Smith-Magenis syndrome	MONDO:0008434	http://purl.obolibrary.org/obo/MONDO_0008434	http://www.w3.org/2004/02/skos/core#exactMatch	スミス・マゲニス症候群	Smith-Magenis syndrome	https://omim.org/entry/182290	OMIM:182290
NANDO:1200709	ファロー四徴症	Tetralogy of Fallot	MONDO:0008542	http://purl.obolibrary.org/obo/MONDO_0008542	http://www.w3.org/2004/02/skos/core#exactMatch	ファロー四徴症	tetralogy of fallot	https://omim.org/entry/187500	OMIM:187500
NANDO:1200875	タナトフォリック骨異形成症1型	Thanatophoric dysplasia type 1	MONDO:0008546	http://purl.obolibrary.org/obo/MONDO_0008546	http://www.w3.org/2004/02/skos/core#exactMatch	タナトフォリック骨異形成症1型	thanatophoric dysplasia type 1	https://omim.org/entry/187600	OMIM:187600
NANDO:1200876	タナトフォリック骨異形成症2型	Thanatophoric dysplasia type 2	MONDO:0008547	http://purl.obolibrary.org/obo/MONDO_0008547	http://www.w3.org/2004/02/skos/core#exactMatch	タナトフォリック骨異形成症2型	thanatophoric dysplasia type 2	https://omim.org/entry/187601	OMIM:187601
NANDO:1200683	4p欠失症候群	4p deletion syndrome	MONDO:0008684	http://purl.obolibrary.org/obo/MONDO_0008684	http://www.w3.org/2004/02/skos/core#exactMatch	ウォルフ・ヒルシュホーン症候群	Wolf-Hirschhorn syndrome	https://omim.org/entry/194190	OMIM:194190
NANDO:1200857	無βリポタンパク血症	Abetalipoproteinemia	MONDO:0008692	http://purl.obolibrary.org/obo/MONDO_0008692	http://www.w3.org/2004/02/skos/core#exactMatch	無ベータリポ蛋白血症	abetalipoproteinemia	https://omim.org/entry/200100	OMIM:200100
NANDO:1200854	タンジール病	Tangier disease	MONDO:0008783	http://purl.obolibrary.org/obo/MONDO_0008783	http://www.w3.org/2004/02/skos/core#exactMatch	タンジール病	Tangier disease	https://omim.org/entry/205400	OMIM:205400
NANDO:1200807	アルギニン血症	Argininemia	MONDO:0008814	http://purl.obolibrary.org/obo/MONDO_0008814	http://www.w3.org/2004/02/skos/core#exactMatch	アルギナーゼ欠損症	arginase deficiency	https://omim.org/entry/207800	OMIM:207800
NANDO:1200806	アルギニノコハク酸尿症	Argininosuccinic aciduria	MONDO:0008815	http://purl.obolibrary.org/obo/MONDO_0008815	http://www.w3.org/2004/02/skos/core#exactMatch	アルギニノコハク酸尿症	argininosuccinic aciduria	https://omim.org/entry/207900	OMIM:207900
NANDO:1200853	シトステロール血症	Sitosterolemia	MONDO:0008863	http://purl.obolibrary.org/obo/MONDO_0008863	http://www.w3.org/2004/02/skos/core#exactMatch	シトステロール血症	sitosterolemia	https://omim.org/phenotypicSeries/PS210250	OMIMPS:210250
NANDO:1200856	脳腱黄色腫症	Cerebrotendinous xanthomatosis	MONDO:0008948	http://purl.obolibrary.org/obo/MONDO_0008948	http://www.w3.org/2004/02/skos/core#exactMatch	脳腱黄色腫症	cerebrotendinous xanthomatosis	https://omim.org/entry/213700	OMIM:213700
NANDO:1200763	根性点状軟骨異形成症1型	Rhizomelic chondrodysplasia punctata type 1	MONDO:0008972	http://purl.obolibrary.org/obo/MONDO_0008972	http://www.w3.org/2004/02/skos/core#exactMatch	根性点状軟骨異形成症1型	rhizomelic chondrodysplasia punctata type 1	https://omim.org/entry/215100	OMIM:215100
NANDO:1200939	中心性輪紋状脈絡膜ジストロフィー	Central areolar choroidal dystrophy	MONDO:0008982	http://purl.obolibrary.org/obo/MONDO_0008982	http://www.w3.org/2004/02/skos/core#exactMatch	中心性輪紋状脈絡膜萎縮症	central areolar choroidal dystrophy	https://omim.org/phenotypicSeries/PS215500	OMIMPS:215500
NANDO:1200805	古典型シトルリン血症	Classic citrullinemia	MONDO:0008988	http://purl.obolibrary.org/obo/MONDO_0008988	http://www.w3.org/2004/02/skos/core#exactMatch	シトルリン血症I型	citrullinemia type I	https://omim.org/entry/215700	OMIM:215700
NANDO:1200922	嚢胞性線維症	Cystic fibrosis	MONDO:0009061	http://purl.obolibrary.org/obo/MONDO_0009061	http://www.w3.org/2004/02/skos/core#exactMatch	嚢胞性線維症	cystic fibrosis	https://omim.org/entry/219700	OMIM:219700
NANDO:1200809	リジン尿性蛋白不耐症	Lysinuric protein intolerance	MONDO:0009109	http://purl.obolibrary.org/obo/MONDO_0009109	http://www.w3.org/2004/02/skos/core#exactMatch	リジン尿性蛋白不耐症	lysinuric protein intolerance	https://omim.org/entry/222700	OMIM:222700
NANDO:1200771	根性点状軟骨異形成症2型	Rhizomelic chondrodysplasia punctata type 2	MONDO:0009112	http://purl.obolibrary.org/obo/MONDO_0009112	http://www.w3.org/2004/02/skos/core#exactMatch	根性点状軟骨異形成症2型	rhizomelic chondrodysplasia punctata type 2	https://omim.org/entry/222765	OMIM:222765
NANDO:1200887	先天性赤血球形成異常性貧血 Type II	Congenital dyserythropoietic anemia type II	MONDO:0009134	http://purl.obolibrary.org/obo/MONDO_0009134	http://www.w3.org/2004/02/skos/core#exactMatch	先天性赤血球形成異常性貧血II型	congenital dyserythropoietic anemia type 2	https://omim.org/entry/224100	OMIM:224100
NANDO:1200711	エプスタイン病	Ebstein's anomaly	MONDO:0009144	http://purl.obolibrary.org/obo/MONDO_0009144	http://www.w3.org/2004/02/skos/core#exactMatch	エプスタイン病	Ebstein anomaly	https://omim.org/entry/224700	OMIM:224700
NANDO:1200810	先天性葉酸吸収不全症	Hereditary folate malabsorption	MONDO:0009238	http://purl.obolibrary.org/obo/MONDO_0009238	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性葉酸吸収不良症	hereditary folate malabsorption	https://omim.org/entry/229050	OMIM:229050
NANDO:1200851	ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症	Galactose-1-phosphate uridyltransferase deficiency	MONDO:0009258	http://purl.obolibrary.org/obo/MONDO_0009258	http://www.w3.org/2004/02/skos/core#exactMatch	古典型ガラクトース血症	classic galactosemia	https://omim.org/entry/230400	OMIM:230400
NANDO:1200800	グルタル酸血症1型	Glutaric acidemia type 1	MONDO:0009281	http://purl.obolibrary.org/obo/MONDO_0009281	http://www.w3.org/2004/02/skos/core#exactMatch	グルタリルCoA脱水素酵素欠損症	glutaryl-CoA dehydrogenase deficiency	https://omim.org/entry/231670	OMIM:231670
NANDO:1200801	グルタル酸血症2型	Glutaric acidemia type 2	MONDO:0009282	http://purl.obolibrary.org/obo/MONDO_0009282	http://www.w3.org/2004/02/skos/core#exactMatch	マルチプルアシルCoA脱水素酵素欠損症	multiple acyl-CoA dehydrogenase deficiency	https://omim.org/entry/231680	OMIM:231680
NANDO:1200841	肝型糖原病Ib型	Hepatic glycogen storage disease type Ib	MONDO:0009288	http://purl.obolibrary.org/obo/MONDO_0009288	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病Ib	glycogen storage disease Ib	https://omim.org/entry/232220	OMIM:232220
NANDO:1200841	肝型糖原病Ib型	Hepatic glycogen storage disease type Ib	MONDO:0009288	http://purl.obolibrary.org/obo/MONDO_0009288	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病Ib	glycogen storage disease Ib	https://omim.org/entry/232240	OMIM:232240
NANDO:1200826	筋型糖原病III型	Glycogen storage diseases type III	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病III	glycogen storage disease III	https://omim.org/entry/232400	OMIM:232400
NANDO:1200827	筋型糖原病IV型	Glycogen storage diseases type IV	MONDO:0009292	http://purl.obolibrary.org/obo/MONDO_0009292	http://www.w3.org/2004/02/skos/core#exactMatch	グリコーゲン分枝酵素欠損による糖原病	glycogen storage disease due to glycogen branching enzyme deficiency	https://omim.org/entry/232500	OMIM:232500
NANDO:1200828	筋型糖原病V型	Glycogen storage diseases type V	MONDO:0009293	http://purl.obolibrary.org/obo/MONDO_0009293	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病V	glycogen storage disease V	https://omim.org/entry/232600	OMIM:232600
NANDO:1200846	肝型糖原病VI型	Hepatic glycogen storage disease type VI	MONDO:0009294	http://purl.obolibrary.org/obo/MONDO_0009294	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病VI	glycogen storage disease VI	https://omim.org/entry/232700	OMIM:232700
NANDO:1200829	筋型糖原病VII型	Glycogen storage diseases type VII	MONDO:0009295	http://purl.obolibrary.org/obo/MONDO_0009295	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病VII	glycogen storage disease VII	https://omim.org/entry/232800	OMIM:232800
NANDO:1200718	抗糸球体基底膜腎炎	Goodpasture syndrome	MONDO:0009303	http://purl.obolibrary.org/obo/MONDO_0009303	http://www.w3.org/2004/02/skos/core#exactMatch	抗糸球体基底膜抗体症	anti-glomerular basement membrane disease	https://omim.org/entry/233450	OMIM:233450
NANDO:1200803	CPSI欠損症	Carbamoyl phosphate synthetase I deficiency	MONDO:0009376	http://purl.obolibrary.org/obo/MONDO_0009376	http://www.w3.org/2004/02/skos/core#exactMatch	カルバミルリン酸合成酵素I欠損症	carbamoyl phosphate synthetase I deficiency disease	https://omim.org/entry/237300	OMIM:237300
NANDO:1200808	NAGS欠損症	NAGS deficiency	MONDO:0009377	http://purl.obolibrary.org/obo/MONDO_0009377	http://www.w3.org/2004/02/skos/core#exactMatch	Nアセチルグルタミン酸合成酵素欠損による高アンモニア血症	hyperammonemia due to N-acetylglutamate synthase deficiency	https://omim.org/entry/237310	OMIM:237310
NANDO:1200824	筋型糖原病0型	Glycogen storage diseases type 0	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	http://www.w3.org/2004/02/skos/core#exactMatch	肝グリコーゲン合成酵素欠損による糖原病	glycogen storage disorder due to hepatic glycogen synthase deficiency	https://omim.org/entry/240600	OMIM:240600
NANDO:1200798	イソ吉草酸血症	Isovaleric acidemia	MONDO:0009475	http://purl.obolibrary.org/obo/MONDO_0009475	http://www.w3.org/2004/02/skos/core#exactMatch	イソ吉草酸血症	isovaleric acidemia	https://omim.org/entry/243500	OMIM:243500
NANDO:1200791	メープルシロップ尿症	Maple syrup urine disease	MONDO:0009563	http://purl.obolibrary.org/obo/MONDO_0009563	http://www.w3.org/2004/02/skos/core#exactMatch	メープルシロップ尿症	maple syrup urine disease	https://omim.org/phenotypicSeries/PS248600	OMIMPS:248600
NANDO:1200864	家族性地中海熱典型例	Typical familial Mediterranean fever	MONDO:0009572	http://purl.obolibrary.org/obo/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://omim.org/entry/249100	OMIM:249100
NANDO:1200794	コバラミン代謝異常（MCM欠損症）	Methylmalonyl-Coenzyme A mutase deficiency	MONDO:0009612	http://purl.obolibrary.org/obo/MONDO_0009612	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロニルCoAムターゼ欠損によるメチルマロン酸尿症	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	https://omim.org/entry/251000	OMIM:251000
NANDO:1200795	コバラミン代謝異常 cblA	Methylmalonic acidemia cblA type	MONDO:0009613	http://purl.obolibrary.org/obo/MONDO_0009613	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸血症cblA型	methylmalonic aciduria, cblA type	https://omim.org/entry/251100	OMIM:251100
NANDO:1200796	コバラミン代謝異常 cblB	Methylmalonic acidemia cblB type	MONDO:0009614	http://purl.obolibrary.org/obo/MONDO_0009614	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸血症cblB型	methylmalonic aciduria, cblB type	https://omim.org/entry/251110	OMIM:251110
NANDO:1200713	ギャロウェイ・モワト症候群	Galloway-Mowat syndrome	MONDO:0009627	http://purl.obolibrary.org/obo/MONDO_0009627	http://www.w3.org/2004/02/skos/core#exactMatch	ギャロウェイ・モワト症候群	Galloway-Mowat syndrome	https://omim.org/phenotypicSeries/PS251300	OMIMPS:251300
NANDO:1200822	ビオチニダーゼ欠損症	Biotinidase deficiency	MONDO:0009665	http://purl.obolibrary.org/obo/MONDO_0009665	http://www.w3.org/2004/02/skos/core#exactMatch	ビオチニダーゼ欠損症	biotinidase deficiency	https://omim.org/entry/253260	OMIM:253260
NANDO:1200821	ホロカルボキシラーゼ合成酵素欠損症	Holocarboxylase synthetase deficiency	MONDO:0009666	http://purl.obolibrary.org/obo/MONDO_0009666	http://www.w3.org/2004/02/skos/core#exactMatch	ホロカルボキシラーゼ合成酵素欠損症	holocarboxylase synthetase deficiency	https://omim.org/entry/253270	OMIM:253270
NANDO:1200955	ラフォラ病	Lafora disease	MONDO:0009697	http://purl.obolibrary.org/obo/MONDO_0009697	http://www.w3.org/2004/02/skos/core#exactMatch	ラフォラ病	Lafora disease	https://omim.org/phenotypicSeries/PS254780	OMIMPS:254780
NANDO:1200954	ウンフェルリヒト・ルントボルグ病	Unverricht-Lundborg disease	MONDO:0009698	http://purl.obolibrary.org/obo/MONDO_0009698	http://www.w3.org/2004/02/skos/core#exactMatch	ウンフェルリヒト・ルントボルグ病	Unverricht-Lundborg syndrome	https://omim.org/entry/254800	OMIM:254800
NANDO:1201032	脳クレアチン欠乏症候群	Cerebral creatine deficiency syndromes	MONDO:0000456	http://purl.obolibrary.org/obo/MONDO_0000456	http://www.w3.org/2004/02/skos/core#exactMatch	脳クレアチン欠乏症候群	cerebral creatine deficiency syndrome	https://omim.org/phenotypicSeries/PS300352	OMIMPS:300352
NANDO:2100259	炎症性腸疾患	Inflammatory bowel disease	MONDO:0005265	http://purl.obolibrary.org/obo/MONDO_0005265	http://www.w3.org/2004/02/skos/core#exactMatch	炎症性腸疾患	inflammatory bowel disease	https://omim.org/phenotypicSeries/PS266600	OMIMPS:266600
NANDO:2100085	心房中隔欠損症	Atrial septal defect	MONDO:0006664	http://purl.obolibrary.org/obo/MONDO_0006664	http://www.w3.org/2004/02/skos/core#exactMatch	心房中隔欠損	atrial septal defect	https://omim.org/phenotypicSeries/PS108800	OMIMPS:108800
NANDO:1201075	偽性副甲状腺機能低下症Ia型	Pseudohypoparathyroidism type 1A	MONDO:0007078	http://purl.obolibrary.org/obo/MONDO_0007078	http://www.w3.org/2004/02/skos/core#exactMatch	偽性副甲状腺機能低下症IA型	pseudohypoparathyroidism type 1A	https://omim.org/entry/103580	OMIM:103580
NANDO:1201063	家族性アミロイドニューロパチーIV型	Familial amyloid polyneuropathy type 4	MONDO:0007097	http://purl.obolibrary.org/obo/MONDO_0007097	http://www.w3.org/2004/02/skos/core#exactMatch	フィンランド型アミロイドーシス	Finnish type amyloidosis	https://omim.org/entry/105120	OMIM:105120
NANDO:2200047	肝細胞癌	Hepatocellular carcinoma	MONDO:0007256	http://purl.obolibrary.org/obo/MONDO_0007256	http://www.w3.org/2004/02/skos/core#exactMatch	肝細胞癌	hepatocellular carcinoma	https://omim.org/entry/114550	OMIM:114550
NANDO:2200009	急性単球性白血病	Acute monocytic leukemia	MONDO:0007896	http://purl.obolibrary.org/obo/MONDO_0007896	http://www.w3.org/2004/02/skos/core#exactMatch	急性単球性白血病	acute monocytic leukemia	https://omim.org/entry/151380	OMIM:151380
NANDO:1201099	変容性骨異形成症	Metatropic dysplasia	MONDO:0007986	http://purl.obolibrary.org/obo/MONDO_0007986	http://www.w3.org/2004/02/skos/core#exactMatch	変容性骨異形成症	metatropic dysplasia	https://omim.org/entry/156530	OMIM:156530
NANDO:1200967	ネイル・パテラ症候群	Nail-patella syndrome	MONDO:0008061	http://purl.obolibrary.org/obo/MONDO_0008061	http://www.w3.org/2004/02/skos/core#exactMatch	ネイル・パテラ症候群	nail-patella syndrome	https://omim.org/entry/161200	OMIM:161200
NANDO:1201007	ハッチンソン・ギルフォード症候群	Hutchinson-Gilford syndrome	MONDO:0008310	http://purl.obolibrary.org/obo/MONDO_0008310	http://www.w3.org/2004/02/skos/core#exactMatch	ハッチンソン・ギルフォード早老症候群	Hutchinson-Gilford progeria syndrome	https://omim.org/entry/176670	OMIM:176670
NANDO:1201100	脊椎骨端骨幹端異形成症Maroteaux 型	Spondyloepimetaphyseal dysplasia, Maroteaux type 	MONDO:0008473	http://purl.obolibrary.org/obo/MONDO_0008473	http://www.w3.org/2004/02/skos/core#exactMatch	脊椎骨端骨幹端異形成症, マロトー型	spondyloepimetaphyseal dysplasia, Maroteaux type	https://omim.org/entry/184095	OMIM:184095
NANDO:1201101	脊椎骨幹端異形成症Kozlowski 型	Spondylometaphyseal dysplasia, Kozlowski type	MONDO:0008477	http://purl.obolibrary.org/obo/MONDO_0008477	http://www.w3.org/2004/02/skos/core#exactMatch	脊椎骨幹端異形成症, Kozlowski型	spondylometaphyseal dysplasia, Kozlowski type	https://omim.org/entry/184252	OMIM:184252
NANDO:1201078	偽性副甲状腺機能低下症II型	Pseudohypoparathyroidism type 2	MONDO:0008749	http://purl.obolibrary.org/obo/MONDO_0008749	http://www.w3.org/2004/02/skos/core#exactMatch	偽性副甲状腺機能低下症2型	pseudohypoparathyroidism type 2	https://omim.org/entry/203330	OMIM:203330
NANDO:1200987	β-ケトチオラーゼ欠損症	Beta-ketothiolase deficiency	MONDO:0008760	http://purl.obolibrary.org/obo/MONDO_0008760	http://www.w3.org/2004/02/skos/core#exactMatch	β-ケトチオラーゼ欠損症	beta-ketothiolase deficiency	https://omim.org/entry/203750	OMIM:203750
NANDO:1201006	膠様滴状角膜ジストロフィー	Gelatinous drop-like corneal dystrophy	MONDO:0008777	http://purl.obolibrary.org/obo/MONDO_0008777	http://www.w3.org/2004/02/skos/core#exactMatch	膠様滴状角膜ジストロフィー	gelatinous drop-like corneal dystrophy	https://omim.org/entry/204870	OMIM:204870
NANDO:1200972	カルニチン/アシルカルニチントランスロカーゼ欠損症	Carnitine-acylcarnitine translocase deficiency	MONDO:0008918	http://purl.obolibrary.org/obo/MONDO_0008918	http://www.w3.org/2004/02/skos/core#exactMatch	カルニチン-アシルカルニチントランスロカーゼ欠損症	carnitine-acylcarnitine translocase deficiency	https://omim.org/entry/212138	OMIM:212138
NANDO:1200973	カルニチントランスポーター欠損症	Systemic primary carnitine deficiency	MONDO:0008919	http://purl.obolibrary.org/obo/MONDO_0008919	http://www.w3.org/2004/02/skos/core#exactMatch	全身性原発性カルニチン欠乏症	systemic primary carnitine deficiency disease	https://omim.org/entry/212140	OMIM:212140
NANDO:2200050	軟骨肉腫	Chondrosarcoma	MONDO:0008977	http://purl.obolibrary.org/obo/MONDO_0008977	http://www.w3.org/2004/02/skos/core#exactMatch	軟骨肉腫	chondrosarcoma	https://omim.org/entry/215300	OMIM:215300
NANDO:1201059	バレー・ジェロルド症候群	Baller-Gerold syndrome	MONDO:0009039	http://purl.obolibrary.org/obo/MONDO_0009039	http://www.w3.org/2004/02/skos/core#exactMatch	バラー・ゲロルト症候群	Baller-Gerold syndrome	https://omim.org/entry/218600	OMIM:218600
NANDO:1201086	心臓弁型エーラス・ダンロス症候群	Cardiac-valvular Ehlers-Danlos syndrome	MONDO:0009159	http://purl.obolibrary.org/obo/MONDO_0009159	http://www.w3.org/2004/02/skos/core#exactMatch	エーラス・ダンロス症候群, 心臓弁型	Ehlers-Danlos syndrome, cardiac valvular type	https://omim.org/entry/225320	OMIM:225320
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://purl.obolibrary.org/obo/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://omim.org/entry/226650	OMIM:226650
NANDO:1201065	接合部型表皮水疱症（ヘルリッツ型）	Herlitz junctional epidermolysis bullosa	MONDO:0009182	http://purl.obolibrary.org/obo/MONDO_0009182	http://www.w3.org/2004/02/skos/core#exactMatch	接合部型表皮水疱症ヘルリッツ型	junctional epidermolysis bullosa Herlitz type	https://omim.org/entry/226700	OMIM:226700
NANDO:1201087	脆弱角膜症候群	Brittle cornea syndrome	MONDO:0009242	http://purl.obolibrary.org/obo/MONDO_0009242	http://www.w3.org/2004/02/skos/core#exactMatch	脆弱角膜症候群	brittle cornea syndrome	https://omim.org/phenotypicSeries/PS229200	OMIMPS:229200
NANDO:1201039	ホモシスチン尿症I型	Homocystinuria type 1	MONDO:0009352	http://purl.obolibrary.org/obo/MONDO_0009352	http://www.w3.org/2004/02/skos/core#exactMatch	古典型ホモシスチン尿症	classic homocystinuria	https://omim.org/entry/236200	OMIM:236200
NANDO:1201041	ホモシスチン尿症III型	Homocystinuria type 3	MONDO:0009353	http://purl.obolibrary.org/obo/MONDO_0009353	http://www.w3.org/2004/02/skos/core#exactMatch	メチレンテトラヒドロ葉酸還元酵素欠損によるホモシスチン尿症	homocystinuria due to methylene tetrahydrofolate reductase deficiency	https://omim.org/entry/236250	OMIM:236250
NANDO:1201083	ミラー・ディカー症候群	Miller Dieker syndrome	MONDO:0009532	http://purl.obolibrary.org/obo/MONDO_0009532	http://www.w3.org/2004/02/skos/core#exactMatch	ミラー・ディカー滑脳症候群	Miller-Dieker lissencephaly syndrome	https://omim.org/entry/247200	OMIM:247200
NANDO:1200990	メチルグルタコン酸尿症I型	3-methylglutaconic aciduria type I	MONDO:0009610	http://purl.obolibrary.org/obo/MONDO_0009610	http://www.w3.org/2004/02/skos/core#exactMatch	3-メチルグルタコン酸尿症1型	3-methylglutaconic aciduria type 1	https://omim.org/entry/250950	OMIM:250950
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://purl.obolibrary.org/obo/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://omim.org/entry/254210	OMIM:254210
NANDO:2200317	器質的成長ホルモン分泌不全性低身長症	Congenital growth hormone deficiency	MONDO:0000050	http://purl.obolibrary.org/obo/MONDO_0000050	http://www.w3.org/2004/02/skos/core#exactMatch	先天性成長ホルモン単独欠損症	isolated congenital growth hormone deficiency	https://omim.org/phenotypicSeries/PS262400	OMIMPS:262400
NANDO:2200139	家族性若年性高尿酸血症性腎症	Familial juvenile hyperuricemic nephropathy	MONDO:0000608	http://purl.obolibrary.org/obo/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://omim.org/phenotypicSeries/PS162000	OMIMPS:162000
NANDO:2200270	心室中隔欠損症	Ventricular septal defect	MONDO:0002070	http://purl.obolibrary.org/obo/MONDO_0002070	http://www.w3.org/2004/02/skos/core#exactMatch	心室中隔欠損症	ventricular septal defect	https://omim.org/phenotypicSeries/PS614429	OMIMPS:614429
NANDO:2200206	気管支拡張症	Bronchiectasis	MONDO:0004822	http://purl.obolibrary.org/obo/MONDO_0004822	http://www.w3.org/2004/02/skos/core#exactMatch	気管支拡張症	bronchiectasis	https://omim.org/phenotypicSeries/PS211400	OMIMPS:211400
NANDO:2200249	左心低形成症候群	Hypoplastic left heart syndrome	MONDO:0004933	http://purl.obolibrary.org/obo/MONDO_0004933	http://www.w3.org/2004/02/skos/core#exactMatch	左心低形成症候群	hypoplastic left heart syndrome	https://omim.org/phenotypicSeries/PS241550	OMIMPS:241550
NANDO:2200113	巣状分節性糸球体硬化症	Focal segmental glomerulosclerosis	MONDO:0005363	http://purl.obolibrary.org/obo/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://omim.org/phenotypicSeries/PS603278	OMIMPS:603278
NANDO:2200210	先天性横隔膜ヘルニア	Congenital diaphragmatic hernia	MONDO:0005711	http://purl.obolibrary.org/obo/MONDO_0005711	http://www.w3.org/2004/02/skos/core#exactMatch	先天性横隔膜ヘルニア	congenital diaphragmatic hernia	https://omim.org/phenotypicSeries/PS142340	OMIMPS:142340
NANDO:2200185	Prune belly症候群	Prune belly syndrome	MONDO:0007032	http://purl.obolibrary.org/obo/MONDO_0007032	http://www.w3.org/2004/02/skos/core#exactMatch	Prune belly症候群	prune belly syndrome	https://omim.org/entry/100100	OMIM:100100
NANDO:2200271	総肺静脈還流異常症	Total anomalous pulmonary venous connection	MONDO:0007130	http://purl.obolibrary.org/obo/MONDO_0007130	http://www.w3.org/2004/02/skos/core#exactMatch	先天性総肺静脈還流異常症	congenital total pulmonary venous return anomaly	https://omim.org/entry/106700	OMIM:106700
NANDO:2200283	大動脈縮窄症	Coarctation of the aorta	MONDO:0007345	http://purl.obolibrary.org/obo/MONDO_0007345	http://www.w3.org/2004/02/skos/core#exactMatch	大動脈縮窄症	aorta coarctation	https://omim.org/entry/120000	OMIM:120000
NANDO:2200133	フィブロネクチン腎症	Glomerulopathy with fibronectin deposits, fibronectin nephropathy	MONDO:0007671	http://purl.obolibrary.org/obo/MONDO_0007671	http://www.w3.org/2004/02/skos/core#exactMatch	フィブロネクチン糸球体症	fibronectin glomerulopathy	https://omim.org/phenotypicSeries/PS137950	OMIMPS:137950
NANDO:2200090	髄芽腫	Medulloblastoma	MONDO:0007959	http://purl.obolibrary.org/obo/MONDO_0007959	http://www.w3.org/2004/02/skos/core#exactMatch	髄芽腫	medulloblastoma	https://omim.org/entry/155255	OMIM:155255
NANDO:2200132	ネイル・パテラ症候群	Nail-patella syndrome	MONDO:0008061	http://purl.obolibrary.org/obo/MONDO_0008061	http://www.w3.org/2004/02/skos/core#exactMatch	ネイル・パテラ症候群	nail-patella syndrome	https://omim.org/entry/161200	OMIM:161200
NANDO:2200252	心室中隔欠損を伴う肺動脈閉鎖症	Pulmonary atresia with ventricular septal defect	MONDO:0008343	http://purl.obolibrary.org/obo/MONDO_0008343	http://www.w3.org/2004/02/skos/core#exactMatch	心室中隔欠損を伴う肺動脈閉鎖症	pulmonary atresia with ventricular septal defect	https://omim.org/entry/178370	OMIM:178370
NANDO:2200207	特発性肺ヘモジデローシス	Idiopathic pulmonary hemosiderosis	MONDO:0008346	http://purl.obolibrary.org/obo/MONDO_0008346	http://www.w3.org/2004/02/skos/core#exactMatch	肺血鉄症	pulmonary hemosiderosis	https://omim.org/entry/178550	OMIM:178550
NANDO:2200285	大動脈弁上狭窄症	Supravalvular aortic stenosis	MONDO:0008504	http://purl.obolibrary.org/obo/MONDO_0008504	http://www.w3.org/2004/02/skos/core#exactMatch	大動脈弁上狭窄症	supravalvular aortic stenosis	https://omim.org/entry/185500	OMIM:185500
NANDO:2200254	ファロー四徴症	Tetralogy of Fallot	MONDO:0008542	http://purl.obolibrary.org/obo/MONDO_0008542	http://www.w3.org/2004/02/skos/core#exactMatch	ファロー四徴症	tetralogy of fallot	https://omim.org/entry/187500	OMIM:187500
NANDO:2200183	尿管瘤	Ureteroceles	MONDO:0008628	http://purl.obolibrary.org/obo/MONDO_0008628	http://www.w3.org/2004/02/skos/core#exactMatch	尿管瘤	ureterocele	https://omim.org/entry/191650	OMIM:191650
NANDO:2200286	ウィリアムズ症候群	Williams syndrome	MONDO:0008678	http://purl.obolibrary.org/obo/MONDO_0008678	http://www.w3.org/2004/02/skos/core#exactMatch	ウィリアムズ症候群	Williams syndrome	https://omim.org/entry/194050	OMIM:194050
NANDO:2200116	Denys-Drash症候群	Denys-Drash syndrome	MONDO:0008682	http://purl.obolibrary.org/obo/MONDO_0008682	http://www.w3.org/2004/02/skos/core#exactMatch	デニス・ドラッシュ症候群	Denys-Drash syndrome	https://omim.org/entry/194080	OMIM:194080
NANDO:2200217	上室頻拍	Supraventricular tachycardia due to WPW syndrome	MONDO:0008685	http://purl.obolibrary.org/obo/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://omim.org/entry/194200	OMIM:194200
NANDO:2200098	脊索腫	Chordoma	MONDO:0008978	http://purl.obolibrary.org/obo/MONDO_0008978	http://www.w3.org/2004/02/skos/core#exactMatch	脊索腫	chordoma	https://omim.org/entry/215400	OMIM:215400
NANDO:2200205	嚢胞性線維症	Cystic fibrosis	MONDO:0009061	http://purl.obolibrary.org/obo/MONDO_0009061	http://www.w3.org/2004/02/skos/core#exactMatch	嚢胞性線維症	cystic fibrosis	https://omim.org/entry/219700	OMIM:219700
NANDO:2200260	エプスタイン病	Ebstein's anomaly	MONDO:0009144	http://purl.obolibrary.org/obo/MONDO_0009144	http://www.w3.org/2004/02/skos/core#exactMatch	エプスタイン病	Ebstein anomaly	https://omim.org/entry/224700	OMIM:224700
NANDO:2200235	心内膜線維弾性症	Endocardial fibroelastosis	MONDO:0009169	http://purl.obolibrary.org/obo/MONDO_0009169	http://www.w3.org/2004/02/skos/core#exactMatch	心内膜線維弾性症	endocardial fibroelastosis	https://omim.org/entry/226000	OMIM:226000
NANDO:2200125	抗糸球体基底膜腎炎	Goodpasture syndrome	MONDO:0009303	http://purl.obolibrary.org/obo/MONDO_0009303	http://www.w3.org/2004/02/skos/core#exactMatch	抗糸球体基底膜抗体症	anti-glomerular basement membrane disease	https://omim.org/entry/233450	OMIM:233450
NANDO:2200491	メチルマロン酸血症	Methylmalonic acidemia	MONDO:0002012	http://purl.obolibrary.org/obo/MONDO_0002012	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸血症	methylmalonic acidemia	https://omim.org/phenotypicSeries/PS251000	OMIMPS:251000
NANDO:2200503	原発性高シュウ酸尿症	Primary hyperoxaluria	MONDO:0002474	http://purl.obolibrary.org/obo/MONDO_0002474	http://www.w3.org/2004/02/skos/core#exactMatch	原発性高シュウ酸尿症	primary hyperoxaluria	https://omim.org/phenotypicSeries/PS259900	OMIMPS:259900
NANDO:2200460	1型糖尿病	Diabetes mellitus type 1	MONDO:0005147	http://purl.obolibrary.org/obo/MONDO_0005147	http://www.w3.org/2004/02/skos/core#exactMatch	1型糖尿病	type 1 diabetes mellitus	https://omim.org/entry/222100	OMIM:222100
NANDO:2200461	2型糖尿病	Diabetes mellitus type 2	MONDO:0005148	http://purl.obolibrary.org/obo/MONDO_0005148	http://www.w3.org/2004/02/skos/core#exactMatch	2型糖尿病	type 2 diabetes mellitus	https://omim.org/entry/125853	OMIM:125853
NANDO:2200399	先天性高インスリン血症	Congenital hyperinsulinemia	MONDO:0005803	http://purl.obolibrary.org/obo/MONDO_0005803	http://www.w3.org/2004/02/skos/core#exactMatch	高インスリン血症性低血糖症	hyperinsulinemic hypoglycemia	https://omim.org/phenotypicSeries/PS256450	OMIMPS:256450
NANDO:2200422	ベーチェット病	Behcet's disease	MONDO:0007191	http://purl.obolibrary.org/obo/MONDO_0007191	http://www.w3.org/2004/02/skos/core#exactMatch	ベーチェット病	Behcet disease	https://omim.org/entry/109650	OMIM:109650
NANDO:2200444	ケルビズム	Cherubism	MONDO:0007315	http://purl.obolibrary.org/obo/MONDO_0007315	http://www.w3.org/2004/02/skos/core#exactMatch	ケルビム症	cherubism	https://omim.org/entry/118400	OMIM:118400
NANDO:2200405	多発性内分泌腫瘍1型	Multiple endocrine neoplasia type 1	MONDO:0007540	http://purl.obolibrary.org/obo/MONDO_0007540	http://www.w3.org/2004/02/skos/core#exactMatch	多発性内分泌腫瘍1型	multiple endocrine neoplasia type 1	https://omim.org/entry/131100	OMIM:131100
NANDO:2200335	橋本病	Hashimoto disease	MONDO:0007699	http://purl.obolibrary.org/obo/MONDO_0007699	http://www.w3.org/2004/02/skos/core#exactMatch	橋本甲状腺炎	Hashimoto thyroiditis	https://omim.org/entry/140300	OMIM:140300
NANDO:2200433	TNF受容体関連周期性症候群	TNF receptor-associated periodic fever syndrome	MONDO:0007727	http://purl.obolibrary.org/obo/MONDO_0007727	http://www.w3.org/2004/02/skos/core#exactMatch	TNF受容体1関連周期性発熱症候群	TNF receptor 1-associated periodic fever syndrome	https://omim.org/entry/142680	OMIM:142680
NANDO:2200416	全身性エリテマトーデス	Systemic lupus erythematosus	MONDO:0007915	http://purl.obolibrary.org/obo/MONDO_0007915	http://www.w3.org/2004/02/skos/core#exactMatch	全身性エリテマトーデス	systemic lupus erythematosus	https://omim.org/entry/152700	OMIM:152700
NANDO:2200416	全身性エリテマトーデス	Systemic lupus erythematosus	MONDO:0007915	http://purl.obolibrary.org/obo/MONDO_0007915	http://www.w3.org/2004/02/skos/core#exactMatch	全身性エリテマトーデス	systemic lupus erythematosus	https://omim.org/phenotypicSeries/PS601744	OMIMPS:601744
NANDO:2200472	プロリダーゼ欠損症	Prolidase deficiency	MONDO:0008221	http://purl.obolibrary.org/obo/MONDO_0008221	http://www.w3.org/2004/02/skos/core#exactMatch	プロリダーゼ欠損症	prolidase deficiency	https://omim.org/entry/170100	OMIM:170100
NANDO:2200411	プラダー・ウィリ症候群	Prader-Willi syndrome	MONDO:0008300	http://purl.obolibrary.org/obo/MONDO_0008300	http://www.w3.org/2004/02/skos/core#exactMatch	プラダー・ウィリ症候群	Prader-Willi syndrome	https://omim.org/entry/176270	OMIM:176270
NANDO:2200363	リドル症候群	Liddle syndrome	MONDO:0008323	http://purl.obolibrary.org/obo/MONDO_0008323	http://www.w3.org/2004/02/skos/core#exactMatch	リドル症候群	Liddle syndrome	https://omim.org/phenotypicSeries/PS177200	OMIMPS:177200
NANDO:2200409	多嚢胞性卵巣症候群	Polycystic ovary syndrome	MONDO:0008487	http://purl.obolibrary.org/obo/MONDO_0008487	http://www.w3.org/2004/02/skos/core#exactMatch	多嚢胞性卵巣症候群	polycystic ovary syndrome	https://omim.org/entry/184700	OMIM:184700
NANDO:2200434	ブラウ症候群	Blau syndrome, early onset sarcoidosis	MONDO:0008523	http://purl.obolibrary.org/obo/MONDO_0008523	http://www.w3.org/2004/02/skos/core#exactMatch	ブラウ症候群	Blau syndrome	https://omim.org/entry/186580	OMIM:186580
NANDO:2200513	中鎖アシルCoA脱水素酵素欠損症	Medium-chain acyl-CoA dehydrogenase deficiency	MONDO:0008721	http://purl.obolibrary.org/obo/MONDO_0008721	http://www.w3.org/2004/02/skos/core#exactMatch	中鎖アシルCoA脱水素酵素欠損症	medium chain acyl-CoA dehydrogenase deficiency	https://omim.org/entry/201450	OMIM:201450
NANDO:2200514	短鎖アシルCoA脱水素酵素欠損症	Short-chain acyl-CoA dehydrogenase deficiency	MONDO:0008722	http://purl.obolibrary.org/obo/MONDO_0008722	http://www.w3.org/2004/02/skos/core#exactMatch	短鎖アシルCoA脱水素酵素欠損症	short chain acyl-CoA dehydrogenase deficiency	https://omim.org/entry/201470	OMIM:201470
NANDO:2200512	極長鎖アシルCoA脱水素酵素欠損症	Very-long-chain acyl-CoA dehydrogenase deficiency	MONDO:0008723	http://purl.obolibrary.org/obo/MONDO_0008723	http://www.w3.org/2004/02/skos/core#exactMatch	極長鎖アシルCoA脱水素酵素欠損症	very long chain acyl-CoA dehydrogenase deficiency	https://omim.org/entry/201475	OMIM:201475
NANDO:2200371	3β-ヒドロキシステロイド脱水素酵素欠損症	3 beta-hydroxysteroid dehydrogenase deficiency	MONDO:0008727	http://purl.obolibrary.org/obo/MONDO_0008727	http://www.w3.org/2004/02/skos/core#exactMatch	3β-ヒドロキシステロイド脱水素酵素欠損による先天性副腎過形成	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	https://omim.org/entry/201810	OMIM:201810
NANDO:2200374	21-水酸化酵素欠損症	21-Hydroxylase deficiency	MONDO:0008728	http://purl.obolibrary.org/obo/MONDO_0008728	http://www.w3.org/2004/02/skos/core#exactMatch	21水酸化酵素欠損による古典型先天性副腎過形成	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	https://omim.org/entry/201910	OMIM:201910
NANDO:2200372	11β-水酸化酵素欠損症	11-β-Hydroxylase deficiency	MONDO:0008729	http://purl.obolibrary.org/obo/MONDO_0008729	http://www.w3.org/2004/02/skos/core#exactMatch	11β-水酸化酵素欠損による先天性副腎過形成	congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	https://omim.org/entry/202010	OMIM:202010
NANDO:2200373	17α-水酸化酵素欠損症	17 alpha-hydroxylase deficiency	MONDO:0008730	http://purl.obolibrary.org/obo/MONDO_0008730	http://www.w3.org/2004/02/skos/core#exactMatch	17α-水酸化酵素欠損による先天性副腎過形成	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	https://omim.org/entry/202110	OMIM:202110
NANDO:2200504	アルカプトン尿症	Alkaptonuria	MONDO:0008753	http://purl.obolibrary.org/obo/MONDO_0008753	http://www.w3.org/2004/02/skos/core#exactMatch	アルカプトン尿症	alkaptonuria	https://omim.org/entry/203500	OMIM:203500
NANDO:2200493	β-ケトチオラーゼ欠損症	Beta-ketothiolase deficiency	MONDO:0008760	http://purl.obolibrary.org/obo/MONDO_0008760	http://www.w3.org/2004/02/skos/core#exactMatch	β-ケトチオラーゼ欠損症	beta-ketothiolase deficiency	https://omim.org/entry/203750	OMIM:203750
NANDO:2200482	高アルギニン血症	Hyperargininemia	MONDO:0008814	http://purl.obolibrary.org/obo/MONDO_0008814	http://www.w3.org/2004/02/skos/core#exactMatch	アルギナーゼ欠損症	arginase deficiency	https://omim.org/entry/207800	OMIM:207800
NANDO:2200481	アルギニノコハク酸尿症	Argininosuccinic aciduria	MONDO:0008815	http://purl.obolibrary.org/obo/MONDO_0008815	http://www.w3.org/2004/02/skos/core#exactMatch	アルギニノコハク酸尿症	argininosuccinic aciduria	https://omim.org/entry/207900	OMIM:207900
NANDO:2200511	カルニチン/アシルカルニチントランスロカーゼ欠損症	Carnitine-acylcarnitine translocase deficiency	MONDO:0008918	http://purl.obolibrary.org/obo/MONDO_0008918	http://www.w3.org/2004/02/skos/core#exactMatch	カルニチン-アシルカルニチントランスロカーゼ欠損症	carnitine-acylcarnitine translocase deficiency	https://omim.org/entry/212138	OMIM:212138
NANDO:2200508	全身性カルニチン欠損症	Organic cation transporter 2 deficiency	MONDO:0008919	http://purl.obolibrary.org/obo/MONDO_0008919	http://www.w3.org/2004/02/skos/core#exactMatch	全身性原発性カルニチン欠乏症	systemic primary carnitine deficiency disease	https://omim.org/entry/212140	OMIM:212140
NANDO:2200480	アルギニノコハク酸合成酵素欠損症	Argininosuccinate synthetase deficiency	MONDO:0008988	http://purl.obolibrary.org/obo/MONDO_0008988	http://www.w3.org/2004/02/skos/core#exactMatch	シトルリン血症I型	citrullinemia type I	https://omim.org/entry/215700	OMIM:215700
NANDO:2200362	見かけの鉱質コルチコイド過剰症候群	Apparent mineralocorticoid excess syndrome	MONDO:0009025	http://purl.obolibrary.org/obo/MONDO_0009025	http://www.w3.org/2004/02/skos/core#exactMatch	見かけの鉱質コルチコイド過剰症	apparent mineralocorticoid excess	https://omim.org/entry/218030	OMIM:218030
NANDO:2200353	副腎皮質結節性過形成	ACTH-independent macronodular adrenal hyperplasia	MONDO:0009049	http://purl.obolibrary.org/obo/MONDO_0009049	http://www.w3.org/2004/02/skos/core#exactMatch	大結節性副腎皮質過形成によるクッシング症候群	Cushing syndrome due to macronodular adrenal hyperplasia	https://omim.org/phenotypicSeries/PS219080	OMIMPS:219080
NANDO:2200350	クッシング病	Cushing disease	MONDO:0009050	http://purl.obolibrary.org/obo/MONDO_0009050	http://www.w3.org/2004/02/skos/core#exactMatch	下垂体腺腫によるクッシング病	Cushing disease due to pituitary adenoma	https://omim.org/entry/219090	OMIM:219090
NANDO:2200489	シスチン尿症	Cystinuria	MONDO:0009067	http://purl.obolibrary.org/obo/MONDO_0009067	http://www.w3.org/2004/02/skos/core#exactMatch	シスチン尿症	cystinuria	https://omim.org/entry/220100	OMIM:220100
NANDO:2200488	リジン尿性蛋白不耐症	Lysinuric protein intolerance	MONDO:0009109	http://purl.obolibrary.org/obo/MONDO_0009109	http://www.w3.org/2004/02/skos/core#exactMatch	リジン尿性蛋白不耐症	lysinuric protein intolerance	https://omim.org/entry/222700	OMIM:222700
NANDO:2200531	遺伝性フルクトース不耐症	Hereditary fructose intolerance	MONDO:0009249	http://purl.obolibrary.org/obo/MONDO_0009249	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性フルクトース不耐症	hereditary fructose intolerance	https://omim.org/entry/229600	OMIM:229600
NANDO:2200535	フルクトース-1,6-ビスホスファターゼ欠損症	Fructose-1,6-bisphosphatase deficiency	MONDO:0009251	http://purl.obolibrary.org/obo/MONDO_0009251	http://www.w3.org/2004/02/skos/core#exactMatch	フルクトース-1,6-ビスホスファターゼ欠損症	fructose-1,6-bisphosphatase deficiency	https://omim.org/entry/229700	OMIM:229700
NANDO:2200533	ガラクトキナーゼ欠損症	Galactokinase deficiency	MONDO:0009255	http://purl.obolibrary.org/obo/MONDO_0009255	http://www.w3.org/2004/02/skos/core#exactMatch	ガラクトキナーゼ欠損症	galactokinase deficiency	https://omim.org/entry/230200	OMIM:230200
NANDO:2200534	ウリジル二リン酸ガラクトース-4-エピメラーゼ欠損症	UDP-galactose-4-epimerase deficiency	MONDO:0009257	http://purl.obolibrary.org/obo/MONDO_0009257	http://www.w3.org/2004/02/skos/core#exactMatch	ガラクトースエピメラーゼ欠損症	galactose epimerase deficiency	https://omim.org/entry/230350	OMIM:230350
NANDO:2200532	ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症	Galactose-1-phosphate uridyltransferase deficiency	MONDO:0009258	http://purl.obolibrary.org/obo/MONDO_0009258	http://www.w3.org/2004/02/skos/core#exactMatch	古典型ガラクトース血症	classic galactosemia	https://omim.org/entry/230400	OMIM:230400
NANDO:2200501	グルタル酸血症1型	Glutaric acidemia type 1	MONDO:0009281	http://purl.obolibrary.org/obo/MONDO_0009281	http://www.w3.org/2004/02/skos/core#exactMatch	グルタリルCoA脱水素酵素欠損症	glutaryl-CoA dehydrogenase deficiency	https://omim.org/entry/231670	OMIM:231670
NANDO:2200502	グルタル酸血症2型	Glutaric acidemia type 2	MONDO:0009282	http://purl.obolibrary.org/obo/MONDO_0009282	http://www.w3.org/2004/02/skos/core#exactMatch	マルチプルアシルCoA脱水素酵素欠損症	multiple acyl-CoA dehydrogenase deficiency	https://omim.org/entry/231680	OMIM:231680
NANDO:2200539	糖原病III型	Glycogen storage disease type III	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病III	glycogen storage disease III	https://omim.org/entry/232400	OMIM:232400
NANDO:2200540	糖原病IV型	Glycogen storage disease type IV	MONDO:0009292	http://purl.obolibrary.org/obo/MONDO_0009292	http://www.w3.org/2004/02/skos/core#exactMatch	グリコーゲン分枝酵素欠損による糖原病	glycogen storage disease due to glycogen branching enzyme deficiency	https://omim.org/entry/232500	OMIM:232500
NANDO:2200541	糖原病V型	Glycogen storage disease type V	MONDO:0009293	http://purl.obolibrary.org/obo/MONDO_0009293	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病V	glycogen storage disease V	https://omim.org/entry/232600	OMIM:232600
NANDO:2200542	糖原病VI型	Glycogen storage disease type VI	MONDO:0009294	http://purl.obolibrary.org/obo/MONDO_0009294	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病VI	glycogen storage disease VI	https://omim.org/entry/232700	OMIM:232700
NANDO:2200543	糖原病VII型	Glycogen storage disease type VII	MONDO:0009295	http://purl.obolibrary.org/obo/MONDO_0009295	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病VII	glycogen storage disease VII	https://omim.org/entry/232800	OMIM:232800
NANDO:2200384	卵巣形成不全	Ovarian dysgenesis	MONDO:0009299	http://purl.obolibrary.org/obo/MONDO_0009299	http://www.w3.org/2004/02/skos/core#exactMatch	46XX性腺異形成症	46 XX gonadal dysgenesis	https://omim.org/phenotypicSeries/PS233300	OMIMPS:233300
NANDO:2200487	ハートナップ病	Hartnup disease	MONDO:0009324	http://purl.obolibrary.org/obo/MONDO_0009324	http://www.w3.org/2004/02/skos/core#exactMatch	ハートナップ病	Hartnup disease	https://omim.org/entry/234500	OMIM:234500
NANDO:2200478	カルバミルリン酸合成酵素欠損症	Carbamoylphosphate synthetase deficiency	MONDO:0009376	http://purl.obolibrary.org/obo/MONDO_0009376	http://www.w3.org/2004/02/skos/core#exactMatch	カルバミルリン酸合成酵素I欠損症	carbamoyl phosphate synthetase I deficiency disease	https://omim.org/entry/237300	OMIM:237300
NANDO:2200477	N-アセチルグルタミン酸合成酵素欠損症	N-acetylglutamate synthetase deficiency	MONDO:0009377	http://purl.obolibrary.org/obo/MONDO_0009377	http://www.w3.org/2004/02/skos/core#exactMatch	Nアセチルグルタミン酸合成酵素欠損による高アンモニア血症	hyperammonemia due to N-acetylglutamate synthase deficiency	https://omim.org/entry/237310	OMIM:237310
NANDO:2200485	高オルニチン血症・高アンモニア血症・ホモシトルリン尿症症候群	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	MONDO:0009393	http://purl.obolibrary.org/obo/MONDO_0009393	http://www.w3.org/2004/02/skos/core#exactMatch	オルニチントランスロカーゼ欠損症	ornithine translocase deficiency	https://omim.org/entry/238970	OMIM:238970
NANDO:2200494	イソ吉草酸血症	Isovaleric acidemia	MONDO:0009475	http://purl.obolibrary.org/obo/MONDO_0009475	http://www.w3.org/2004/02/skos/core#exactMatch	イソ吉草酸血症	isovaleric acidemia	https://omim.org/entry/243500	OMIM:243500
NANDO:2200499	スクシニル-CoA：3-ケト酸CoAトランスフェラーゼ欠損症	Succinyl-CoA:3-ketoacid CoA transferase deficiency	MONDO:0009492	http://purl.obolibrary.org/obo/MONDO_0009492	http://www.w3.org/2004/02/skos/core#exactMatch	スクシニル-CoA:3-ケト酸CoAトランスフェラーゼ欠損症	succinyl-CoA:3-ketoacid CoA transferase deficiency	https://omim.org/entry/245050	OMIM:245050
NANDO:2200497	3-ヒドロキシ-3-メチルグルタル酸血症	3-hydroxy-3-methylglutaric acidemia	MONDO:0009520	http://purl.obolibrary.org/obo/MONDO_0009520	http://www.w3.org/2004/02/skos/core#exactMatch	3-ヒドロキシ-3-メチルグルタル酸尿症	3-hydroxy-3-methylglutaric aciduria	https://omim.org/entry/246450	OMIM:246450
NANDO:2200473	メープルシロップ尿症	Maple syrup urine disease	MONDO:0009563	http://purl.obolibrary.org/obo/MONDO_0009563	http://www.w3.org/2004/02/skos/core#exactMatch	メープルシロップ尿症	maple syrup urine disease	https://omim.org/phenotypicSeries/PS248600	OMIMPS:248600
NANDO:2200551	ムコ多糖症VI型	Mucopolysaccharidosis type VI	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症6型	mucopolysaccharidosis type 6	https://omim.org/entry/253200	OMIM:253200
NANDO:2200708	ICF症候群	ICF syndrome	MONDO:0000133	http://purl.obolibrary.org/obo/MONDO_0000133	http://www.w3.org/2004/02/skos/core#exactMatch	免疫不全-動原体不安定性-顔面奇形症候群	immunodeficiency-centromeric instability-facial anomalies syndrome	https://omim.org/phenotypicSeries/PS242860	OMIMPS:242860
NANDO:2200862	ウルリヒ型先天性筋ジストロフィー	Ullrich congenital muscular dystrophy	MONDO:0000355	http://purl.obolibrary.org/obo/MONDO_0000355	http://www.w3.org/2004/02/skos/core#exactMatch	ウルリッヒ型先天性筋ジストロフィー	Ullrich congenital muscular dystrophy	https://omim.org/phenotypicSeries/PS254090	OMIMPS:254090
NANDO:2200842	脳クレアチン欠乏症候群	Cerebral creatine deficiency syndrome	MONDO:0000456	http://purl.obolibrary.org/obo/MONDO_0000456	http://www.w3.org/2004/02/skos/core#exactMatch	脳クレアチン欠乏症候群	cerebral creatine deficiency syndrome	https://omim.org/phenotypicSeries/PS300352	OMIMPS:300352
NANDO:2200644	家族性赤血球増加症	Familial polycythemia	MONDO:0001115	http://purl.obolibrary.org/obo/MONDO_0001115	http://www.w3.org/2004/02/skos/core#exactMatch	家族性赤血球増加症	familial polycythemia	https://omim.org/phenotypicSeries/PS133100	OMIMPS:133100
NANDO:2200859	顔面肩甲上腕型筋ジストロフィー	Facioscapulohumeral muscular dystrophy	MONDO:0001347	http://purl.obolibrary.org/obo/MONDO_0001347	http://www.w3.org/2004/02/skos/core#exactMatch	顔面肩甲上腕型筋ジストロフィー	facioscapulohumeral muscular dystrophy	https://omim.org/phenotypicSeries/PS158900	OMIMPS:158900
NANDO:2200853	脊髄性筋萎縮症	Spinal muscular atrophy	MONDO:0001516	http://purl.obolibrary.org/obo/MONDO_0001516	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄性筋萎縮症	spinal muscular atrophy	https://omim.org/phenotypicSeries/PS253300	OMIMPS:253300
NANDO:2200826	結節性硬化症	Tuberous sclerosis complex	MONDO:0001734	http://purl.obolibrary.org/obo/MONDO_0001734	http://www.w3.org/2004/02/skos/core#exactMatch	結節性硬化症	tuberous sclerosis	https://omim.org/phenotypicSeries/PS191100	OMIMPS:191100
NANDO:2200718	高IgM症候群	Hyper-IgM syndrome	MONDO:0003947	http://purl.obolibrary.org/obo/MONDO_0003947	http://www.w3.org/2004/02/skos/core#exactMatch	高IgM症候群	hyper-IgM syndrome	https://omim.org/phenotypicSeries/PS308230	OMIMPS:308230
NANDO:2200602	家族性高コレステロール血症	Familial hypercholesterolemia	MONDO:0005439	http://purl.obolibrary.org/obo/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://omim.org/phenotypicSeries/PS143890	OMIMPS:143890
NANDO:2200844	アペール症候群	Apert syndrome	MONDO:0007041	http://purl.obolibrary.org/obo/MONDO_0007041	http://www.w3.org/2004/02/skos/core#exactMatch	アペール症候群	Apert syndrome	https://omim.org/entry/101200	OMIM:101200
NANDO:2200848	Seather-Chotzen症候群	Saethre-Chotzen syndrome	MONDO:0007042	http://purl.obolibrary.org/obo/MONDO_0007042	http://www.w3.org/2004/02/skos/core#exactMatch	セートレ・ヒョツェン症候群	Saethre-Chotzen syndrome	https://omim.org/entry/101400	OMIM:101400
NANDO:2200696	アデノシンデアミナーゼ欠損症	Adenosine deaminase deficiency	MONDO:0007064	http://purl.obolibrary.org/obo/MONDO_0007064	http://www.w3.org/2004/02/skos/core#exactMatch	重症複合免疫不全症, 常染色体潜性, T細胞陰性, B細胞陰性, NK細胞陰性, アデノシンデアミナーゼ欠損による	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	https://omim.org/entry/102700	OMIM:102700
NANDO:2200851	脳動静脈奇形	Cerebral arteriovenous malformation	MONDO:0007154	http://purl.obolibrary.org/obo/MONDO_0007154	http://www.w3.org/2004/02/skos/core#exactMatch	脳動静脈奇形	arteriovenous malformations of the brain	https://omim.org/entry/108010	OMIM:108010
NANDO:2200828	ゴーリン症候群	Gorlin syndrome	MONDO:0007187	http://purl.obolibrary.org/obo/MONDO_0007187	http://www.w3.org/2004/02/skos/core#exactMatch	母斑性基底細胞癌症候群	nevoid basal cell carcinoma syndrome	https://omim.org/phenotypicSeries/PS109400	OMIMPS:109400
NANDO:2200870	セントラルコア病	Central core disease	MONDO:0007294	http://purl.obolibrary.org/obo/MONDO_0007294	http://www.w3.org/2004/02/skos/core#exactMatch	セントラルコアミオパチー	central core myopathy	https://omim.org/entry/117000	OMIM:117000
NANDO:2200845	クルーゾン病	Crouzon disease	MONDO:0007405	http://purl.obolibrary.org/obo/MONDO_0007405	http://www.w3.org/2004/02/skos/core#exactMatch	クルーゾン症候群	Crouzon syndrome	https://omim.org/entry/123500	OMIM:123500
NANDO:2200746	周期性好中球減少症	Cyclic neutropenia	MONDO:0008090	http://purl.obolibrary.org/obo/MONDO_0008090	http://www.w3.org/2004/02/skos/core#exactMatch	周期性好中球減少症	cyclic hematopoiesis	https://omim.org/entry/162800	OMIM:162800
NANDO:2200833	ハッチンソン・ギルフォード症候群	Hutchinson-Gilford syndrome	MONDO:0008310	http://purl.obolibrary.org/obo/MONDO_0008310	http://www.w3.org/2004/02/skos/core#exactMatch	ハッチンソン・ギルフォード早老症候群	Hutchinson-Gilford progeria syndrome	https://omim.org/entry/176670	OMIM:176670
NANDO:2200668	血小板型フォンウィルブランド病	Platelet-type von Willebrand disease	MONDO:0008332	http://purl.obolibrary.org/obo/MONDO_0008332	http://www.w3.org/2004/02/skos/core#exactMatch	血小板型フォン・ヴィレブランド病	platelet-type von Willebrand disease	https://omim.org/entry/177820	OMIM:177820
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://purl.obolibrary.org/obo/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://omim.org/entry/179700	OMIM:179700
NANDO:2200820	中隔視神経形成異常症	Septo-optic dysplasia	MONDO:0008428	http://purl.obolibrary.org/obo/MONDO_0008428	http://www.w3.org/2004/02/skos/core#exactMatch	中隔視神経形成異常症	septooptic dysplasia	https://omim.org/entry/182230	OMIM:182230
NANDO:2200830	スタージ・ウェーバー症候群	Sturge-Weber syndrome	MONDO:0008501	http://purl.obolibrary.org/obo/MONDO_0008501	http://www.w3.org/2004/02/skos/core#exactMatch	スタージ・ウェーバー症候群	Sturge-Weber syndrome	https://omim.org/entry/185300	OMIM:185300
NANDO:2200663	常染色体優性遺伝性血小板減少症	Autosomal dominant thrombocytopenia 2	MONDO:0008555	http://purl.obolibrary.org/obo/MONDO_0008555	http://www.w3.org/2004/02/skos/core#exactMatch	血小板減少症2	thrombocytopenia 2	https://omim.org/entry/188000	OMIM:188000
NANDO:2200653	周期性血小板減少症	Cyclic thrombocytopenia	MONDO:0008556	http://purl.obolibrary.org/obo/MONDO_0008556	http://www.w3.org/2004/02/skos/core#exactMatch	血小板減少症, 周期性	thrombocytopenia, cyclic	https://omim.org/entry/188020	OMIM:188020
NANDO:2200645	免疫性血小板減少性紫斑病	Immune thrombocytopenic purpura	MONDO:0008558	http://purl.obolibrary.org/obo/MONDO_0008558	http://www.w3.org/2004/02/skos/core#exactMatch	自己免疫性血小板減少性紫斑病	autoimmune thrombocytopenic purpura	https://omim.org/entry/188030	OMIM:188030
NANDO:2200829	フォンヒッペル・リンドウ病	von Hippel-Lindau disease	MONDO:0008667	http://purl.obolibrary.org/obo/MONDO_0008667	http://www.w3.org/2004/02/skos/core#exactMatch	フォンヒッペル・リンダウ病	von Hippel-Lindau disease	https://omim.org/entry/193300	OMIM:193300
NANDO:2200604	無βリポタンパク血症	Abetalipoproteinemia	MONDO:0008692	http://purl.obolibrary.org/obo/MONDO_0008692	http://www.w3.org/2004/02/skos/core#exactMatch	無ベータリポ蛋白血症	abetalipoproteinemia	https://omim.org/entry/200100	OMIM:200100
NANDO:2200584	先天性腸性肢端皮膚炎	Acrodermatitis enteropathica	MONDO:0008713	http://purl.obolibrary.org/obo/MONDO_0008713	http://www.w3.org/2004/02/skos/core#exactMatch	腸性肢端皮膚炎	acrodermatitis enteropathica	https://omim.org/entry/201100	OMIM:201100
NANDO:2200672	先天性フィブリノーゲン欠乏症	Afibrinogenemia	MONDO:0008737	http://purl.obolibrary.org/obo/MONDO_0008737	http://www.w3.org/2004/02/skos/core#exactMatch	先天性低フィブリノーゲン血症	congenital afibrinogenemia	https://omim.org/entry/202400	OMIM:202400
NANDO:2200835	アレキサンダー病	Alexander disease	MONDO:0008752	http://purl.obolibrary.org/obo/MONDO_0008752	http://www.w3.org/2004/02/skos/core#exactMatch	アレキサンダー病	Alexander disease	https://omim.org/entry/203450	OMIM:203450
NANDO:2200555	アスパルチルグルコサミン尿症	Aspartylglucosaminuria	MONDO:0008830	http://purl.obolibrary.org/obo/MONDO_0008830	http://www.w3.org/2004/02/skos/core#exactMatch	アスパルチルグルコサミン尿症	aspartylglucosaminuria	https://omim.org/entry/208400	OMIM:208400
NANDO:2200705	毛細血管拡張性運動失調症	Ataxia telangiectasia	MONDO:0008840	http://purl.obolibrary.org/obo/MONDO_0008840	http://www.w3.org/2004/02/skos/core#exactMatch	毛細血管拡張性運動失調症	ataxia telangiectasia	https://omim.org/entry/208900	OMIM:208900
NANDO:2200617	無トランスフェリン血症	Congenital atransferrinemia	MONDO:0008846	http://purl.obolibrary.org/obo/MONDO_0008846	http://www.w3.org/2004/02/skos/core#exactMatch	無トランスフェリン血症	atransferrinemia	https://omim.org/entry/209300	OMIM:209300
NANDO:2200702	MHCクラスII欠損症	MHC class II deficiency	MONDO:0008855	http://purl.obolibrary.org/obo/MONDO_0008855	http://www.w3.org/2004/02/skos/core#exactMatch	MHCクラスII欠損症	MHC class II deficiency	https://omim.org/phenotypicSeries/PS209920	OMIMPS:209920
NANDO:2200707	ブルーム症候群	Bloom syndrome	MONDO:0008876	http://purl.obolibrary.org/obo/MONDO_0008876	http://www.w3.org/2004/02/skos/core#exactMatch	ブルーム症候群	Bloom syndrome	https://omim.org/entry/210900	OMIM:210900
NANDO:2200773	CARD9欠損症	CARD9 deficiency	MONDO:0008905	http://purl.obolibrary.org/obo/MONDO_0008905	http://www.w3.org/2004/02/skos/core#exactMatch	CARD9欠損による侵襲性真菌症に対する素因	predisposition to invasive fungal disease due to CARD9 deficiency	https://omim.org/entry/212050	OMIM:212050
NANDO:2200724	チェディアック・東症候群	Chédiak-Higashi syndrome	MONDO:0008963	http://purl.obolibrary.org/obo/MONDO_0008963	http://www.w3.org/2004/02/skos/core#exactMatch	チェディアック・東症候群	Chediak-Higashi syndrome	https://omim.org/entry/214500	OMIM:214500
NANDO:2200781	C2 欠損症	C2 deficiency	MONDO:0009006	http://purl.obolibrary.org/obo/MONDO_0009006	http://www.w3.org/2004/02/skos/core#exactMatch	補体成分C2欠損症	complement component 2 deficiency	https://omim.org/entry/217000	OMIM:217000
NANDO:2200821	ダンディー・ウォーカー症候群	Dandy-Walker syndrome	MONDO:0009072	http://purl.obolibrary.org/obo/MONDO_0009072	http://www.w3.org/2004/02/skos/core#exactMatch	ダンディー・ウォーカー症候群	Dandy-Walker syndrome	https://omim.org/entry/220200	OMIM:220200
NANDO:2200597	ドーパミンβ-水酸化酵素欠損症	Dopamine beta hydroxylase deficiency	MONDO:0009123	http://purl.obolibrary.org/obo/MONDO_0009123	http://www.w3.org/2004/02/skos/core#exactMatch	起立性低血圧1	orthostatic hypotension 1	https://omim.org/entry/223360	OMIM:223360
NANDO:2200808	慢性活動性EBウイルス感染症	Chronic active EB virus infection	MONDO:0009194	http://purl.obolibrary.org/obo/MONDO_0009194	http://www.w3.org/2004/02/skos/core#exactMatch	免疫不全症32B	immunodeficiency 32B	https://omim.org/entry/226990	OMIM:226990
NANDO:2200565	ファーバー病	Farber disease	MONDO:0009218	http://purl.obolibrary.org/obo/MONDO_0009218	http://www.w3.org/2004/02/skos/core#exactMatch	ファーバー脂肪肉芽腫症	Farber lipogranulomatosis	https://omim.org/entry/228000	OMIM:228000
NANDO:2200685	先天性高分子キニノゲン欠乏症	High molecular weight kininogen deficiency	MONDO:0009234	http://purl.obolibrary.org/obo/MONDO_0009234	http://www.w3.org/2004/02/skos/core#exactMatch	先天性高分子キニノーゲン欠損症	congenital high-molecular-weight kininogen deficiency	https://omim.org/entry/228960	OMIM:228960
NANDO:2200592	先天性葉酸吸収不全症	Hereditary folate malabsorption	MONDO:0009238	http://purl.obolibrary.org/obo/MONDO_0009238	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性葉酸吸収不良症	hereditary folate malabsorption	https://omim.org/entry/229050	OMIM:229050
NANDO:2200553	フコシドーシス	Fucosidosis	MONDO:0009254	http://purl.obolibrary.org/obo/MONDO_0009254	http://www.w3.org/2004/02/skos/core#exactMatch	フコシドーシス	fucosidosis	https://omim.org/entry/230000	OMIM:230000
NANDO:2200656	ベルナール・スーリエ症候群	Bernard-Soulier syndrome	MONDO:0009276	http://purl.obolibrary.org/obo/MONDO_0009276	http://www.w3.org/2004/02/skos/core#exactMatch	ベルナール・スーリエ症候群	Bernard-Soulier syndrome	https://omim.org/entry/231200	OMIM:231200
NANDO:2200680	第XII因子欠乏症	Factor XII deficiency	MONDO:0009315	http://purl.obolibrary.org/obo/MONDO_0009315	http://www.w3.org/2004/02/skos/core#exactMatch	先天性第XII因子欠乏症	congenital factor XII deficiency	https://omim.org/entry/234000	OMIM:234000
NANDO:2200714	肝中心静脈閉鎖症を伴う免疫不全症	Hepatic veno-occlusive disease with immunodeficiency	MONDO:0009338	http://purl.obolibrary.org/obo/MONDO_0009338	http://www.w3.org/2004/02/skos/core#exactMatch	肝静脈閉塞症-免疫不全症候群	hepatic veno-occlusive disease-immunodeficiency syndrome	https://omim.org/entry/235550	OMIM:235550
NANDO:2200711	シムケ症候群	Schimke syndrome	MONDO:0009458	http://purl.obolibrary.org/obo/MONDO_0009458	http://www.w3.org/2004/02/skos/core#exactMatch	シムケ免疫・骨異形成症	Schimke immuno-osseous dysplasia	https://omim.org/entry/242900	OMIM:242900
NANDO:2200564	クラッベ病	Krabbe disease	MONDO:0009499	http://purl.obolibrary.org/obo/MONDO_0009499	http://www.w3.org/2004/02/skos/core#exactMatch	クラッベ病	Krabbe disease	https://omim.org/entry/245200	OMIM:245200
NANDO:2200608	リポイドタンパク症	Lipoid proteinosis	MONDO:0009530	http://purl.obolibrary.org/obo/MONDO_0009530	http://www.w3.org/2004/02/skos/core#exactMatch	リポイドタンパク症	lipoid proteinosis	https://omim.org/entry/247100	OMIM:247100
NANDO:2200827	神経皮膚黒色症	Neurocutaneous melanosis	MONDO:0009578	http://purl.obolibrary.org/obo/MONDO_0009578	http://www.w3.org/2004/02/skos/core#exactMatch	神経皮膚黒色腫症	neurocutaneous melanocytosis	https://omim.org/entry/249400	OMIM:249400
NANDO:2200706	ナイミーヘン染色体不安定症候群	Nijmegen breakage syndrome	MONDO:0009623	http://purl.obolibrary.org/obo/MONDO_0009623	http://www.w3.org/2004/02/skos/core#exactMatch	ナイミーヘン染色体不安定症候群	Nijmegen breakage syndrome	https://omim.org/entry/251260	OMIM:251260
NANDO:2200567	ムコリピドーシスII型	Mucolipidosis II	MONDO:0009650	http://purl.obolibrary.org/obo/MONDO_0009650	http://www.w3.org/2004/02/skos/core#exactMatch	ムコリピドーシスII型	mucolipidosis type II	https://omim.org/entry/252500	OMIM:252500
NANDO:2200552	ムコ多糖症VII型	Mucopolysaccharidosis type VII	MONDO:0009662	http://purl.obolibrary.org/obo/MONDO_0009662	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症7型	mucopolysaccharidosis type 7	https://omim.org/entry/253220	OMIM:253220
NANDO:2200860	福山型先天性筋ジストロフィー	Fukuyama type congenital muscular dystrophy	MONDO:0009678	http://purl.obolibrary.org/obo/MONDO_0009678	http://www.w3.org/2004/02/skos/core#exactMatch	筋ジストロフィー-ジストログリカノパチー（脳および眼の奇形を伴う先天性）, A型, 4	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	https://omim.org/entry/253800	OMIM:253800
NANDO:2200758	ミエロペルオキシダーゼ欠損症	Myeloperoxidase deficiency	MONDO:0009694	http://purl.obolibrary.org/obo/MONDO_0009694	http://www.w3.org/2004/02/skos/core#exactMatch	ミエロペルオキシダーゼ欠損症	myeloperoxidase deficiency	https://omim.org/entry/254600	OMIM:254600
NANDO:2201015	内軟骨腫症	Enchondromatosis	MONDO:0005508	http://purl.obolibrary.org/obo/MONDO_0005508	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性多発性骨軟骨腫	hereditary multiple osteochondromas	https://omim.org/phenotypicSeries/PS133700	OMIMPS:133700
NANDO:2201009	軟骨無形成症	Achondroplasia	MONDO:0007037	http://purl.obolibrary.org/obo/MONDO_0007037	http://www.w3.org/2004/02/skos/core#exactMatch	軟骨無形成症	achondroplasia	https://omim.org/entry/100800	OMIM:100800
NANDO:2200976	ファイファー症候群	Pfeiffer syndrome	MONDO:0007043	http://purl.obolibrary.org/obo/MONDO_0007043	http://www.w3.org/2004/02/skos/core#exactMatch	ファイファー症候群	Pfeiffer syndrome	https://omim.org/entry/101600	OMIM:101600
NANDO:2200960	アンジェルマン症候群	Angelman syndrome	MONDO:0007113	http://purl.obolibrary.org/obo/MONDO_0007113	http://www.w3.org/2004/02/skos/core#exactMatch	アンジェルマン症候群	Angelman syndrome	https://omim.org/entry/105830	OMIM:105830
NANDO:2201027	青色ゴムまり様母斑症候群	Blue rubber bleb nevus syndrome	MONDO:0007203	http://purl.obolibrary.org/obo/MONDO_0007203	http://www.w3.org/2004/02/skos/core#exactMatch	青色ゴムまり様母斑	blue rubber bleb nevus	https://omim.org/entry/112200	OMIM:112200
NANDO:2200931	アラジール症候群	Alagille syndrome	MONDO:0007318	http://purl.obolibrary.org/obo/MONDO_0007318	http://www.w3.org/2004/02/skos/core#exactMatch	アラジール症候群	Alagille syndrome	https://omim.org/phenotypicSeries/PS118450	OMIMPS:118450
NANDO:2201026	ビールズ症候群	Beals syndrome	MONDO:0007363	http://purl.obolibrary.org/obo/MONDO_0007363	http://www.w3.org/2004/02/skos/core#exactMatch	先天性拘縮性クモ指症	congenital contractural arachnodactyly	https://omim.org/entry/121050	OMIM:121050
NANDO:2200961	5p-症候群	5p- syndrome	MONDO:0007404	http://purl.obolibrary.org/obo/MONDO_0007404	http://www.w3.org/2004/02/skos/core#exactMatch	ネコ鳴き症候群	Cri-du-chat syndrome	https://omim.org/entry/123450	OMIM:123450
NANDO:2201050	家族性中枢性尿崩症	Familial central diabetes insipidus	MONDO:0007450	http://purl.obolibrary.org/obo/MONDO_0007450	http://www.w3.org/2004/02/skos/core#exactMatch	神経下垂体性尿崩症	neurohypophyseal diabetes insipidus	https://omim.org/entry/125700	OMIM:125700
NANDO:2201069	MODY1	Maturity-onset diabetes of the young type 1	MONDO:0007452	http://purl.obolibrary.org/obo/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://omim.org/entry/125850	OMIM:125850
NANDO:2201070	MODY2	Maturity-onset diabetes of the young type 2	MONDO:0007453	http://purl.obolibrary.org/obo/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://omim.org/entry/125851	OMIM:125851
NANDO:2200884	変形性筋ジストニー	Dystonia musculorum deformans	MONDO:0007492	http://purl.obolibrary.org/obo/MONDO_0007492	http://www.w3.org/2004/02/skos/core#exactMatch	早発性全身性四肢発症型ジストニア	early-onset generalized limb-onset dystonia	https://omim.org/entry/128100	OMIM:128100
NANDO:2200959	ベックウィズ・ヴィーデマン症候群	Beckwith-Wiedemann syndrome	MONDO:0007534	http://purl.obolibrary.org/obo/MONDO_0007534	http://www.w3.org/2004/02/skos/core#exactMatch	ベックウィズ・ヴィーデマン症候群	Beckwith-Wiedemann syndrome	https://omim.org/entry/130650	OMIM:130650
NANDO:2200970	カムラティ・エンゲルマン症候群	Camurati-Engelmann disease	MONDO:0007542	http://purl.obolibrary.org/obo/MONDO_0007542	http://www.w3.org/2004/02/skos/core#exactMatch	カムラティ・エンゲルマン症候群	Camurati-Engelmann disease	https://omim.org/phenotypicSeries/PS131300	OMIMPS:131300
NANDO:2201020	進行性骨化性線維異形成症	Fibrodysplasia ossificans progressiva	MONDO:0007606	http://purl.obolibrary.org/obo/MONDO_0007606	http://www.w3.org/2004/02/skos/core#exactMatch	進行性骨化性線維異形成症	fibrodysplasia ossificans progressiva	https://omim.org/entry/135100	OMIM:135100
NANDO:2201073	MODY5	Maturity-onset diabetes of the young type 5	MONDO:0007669	http://purl.obolibrary.org/obo/MONDO_0007669	http://www.w3.org/2004/02/skos/core#exactMatch	腎嚢胞および糖尿病症候群	renal cysts and diabetes syndrome	https://omim.org/entry/137920	OMIM:137920
NANDO:2201035	カサバッハ・メリット症候群	Kasabach-Merritt syndrome	MONDO:0007708	http://purl.obolibrary.org/obo/MONDO_0007708	http://www.w3.org/2004/02/skos/core#exactMatch	カサバッハ・メリット症候群	Kasabach-Merritt syndrome	https://omim.org/entry/141000	OMIM:141000
NANDO:2201010	軟骨低形成症	Hypochondroplasia	MONDO:0007793	http://purl.obolibrary.org/obo/MONDO_0007793	http://www.w3.org/2004/02/skos/core#exactMatch	軟骨低形成症	hypochondroplasia	https://omim.org/entry/146000	OMIM:146000
NANDO:2200990	表在性表皮融解性魚鱗癬	Superficial epidermolytic ichthyosis	MONDO:0007813	http://purl.obolibrary.org/obo/MONDO_0007813	http://www.w3.org/2004/02/skos/core#exactMatch	表在性表皮融解性魚鱗癬	superficial epidermolytic ichthyosis	https://omim.org/entry/146800	OMIM:146800
NANDO:2201030	クリッペル・トレノネー・ウェーバー症候群	Klippel-Trenaunay-Weber syndrome	MONDO:0007864	http://purl.obolibrary.org/obo/MONDO_0007864	http://www.w3.org/2004/02/skos/core#exactMatch	血管骨肥大症候群	angioosteohypertrophic syndrome	https://omim.org/entry/149000	OMIM:149000
NANDO:2201019	ラーセン症候群	Larsen syndrome	MONDO:0007875	http://purl.obolibrary.org/obo/MONDO_0007875	http://www.w3.org/2004/02/skos/core#exactMatch	ラーセン症候群	Larsen syndrome	https://omim.org/entry/150250	OMIM:150250
NANDO:2200968	マルファン症候群	Marfan syndrome	MONDO:0007947	http://purl.obolibrary.org/obo/MONDO_0007947	http://www.w3.org/2004/02/skos/core#exactMatch	マルファン症候群	Marfan syndrome	https://omim.org/entry/154700	OMIM:154700
NANDO:2200980	メビウス症候群	Moebius syndrome	MONDO:0008006	http://purl.obolibrary.org/obo/MONDO_0008006	http://www.w3.org/2004/02/skos/core#exactMatch	メビウス症候群	Mobius syndrome	https://omim.org/entry/157900	OMIM:157900
NANDO:2201053	MEN2B	Multiple endocrine neoplasia type 2B	MONDO:0008082	http://purl.obolibrary.org/obo/MONDO_0008082	http://www.w3.org/2004/02/skos/core#exactMatch	多発性内分泌腫瘍2B型	multiple endocrine neoplasia type 2B	https://omim.org/entry/162300	OMIM:162300
NANDO:2201015	内軟骨腫症	Enchondromatosis	MONDO:0008145	http://purl.obolibrary.org/obo/MONDO_0008145	http://www.w3.org/2004/02/skos/core#exactMatch	オリエ病	Ollier disease	https://omim.org/entry/166000	OMIM:166000
NANDO:2200942	遺伝性膵炎	Hereditary pancreatitis	MONDO:0008185	http://purl.obolibrary.org/obo/MONDO_0008185	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性慢性膵炎	hereditary chronic pancreatitis	https://omim.org/entry/167800	OMIM:167800
NANDO:2201052	MEN2A	Multiple endocrine neoplasia type 2A	MONDO:0008234	http://purl.obolibrary.org/obo/MONDO_0008234	http://www.w3.org/2004/02/skos/core#exactMatch	多発性内分泌腫瘍2A型	multiple endocrine neoplasia type 2A	https://omim.org/entry/171400	OMIM:171400
NANDO:2200917	ポイツ・ジェガース症候群	Peutz-Jeghers syndrome	MONDO:0008280	http://purl.obolibrary.org/obo/MONDO_0008280	http://www.w3.org/2004/02/skos/core#exactMatch	ポイツ・ジェガース症候群	Peutz-Jeghers syndrome	https://omim.org/entry/175200	OMIM:175200
NANDO:2201018	偽性軟骨無形成症	Pseudoachondroplasia	MONDO:0008322	http://purl.obolibrary.org/obo/MONDO_0008322	http://www.w3.org/2004/02/skos/core#exactMatch	偽性軟骨無形成症	pseudoachondroplasia	https://omim.org/entry/177170	OMIM:177170
NANDO:2200954	スミス・マギニス症候群	Smith-Magenis syndrome	MONDO:0008434	http://purl.obolibrary.org/obo/MONDO_0008434	http://www.w3.org/2004/02/skos/core#exactMatch	スミス・マゲニス症候群	Smith-Magenis syndrome	https://omim.org/entry/182290	OMIM:182290
NANDO:2200965	ダウン症候群	Down syndrome	MONDO:0008608	http://purl.obolibrary.org/obo/MONDO_0008608	http://www.w3.org/2004/02/skos/core#exactMatch	ダウン症候群	Down syndrome	https://omim.org/entry/190685	OMIM:190685
NANDO:2201067	マックル・ウェルズ症候群	Muckle-Wells syndrome	MONDO:0008633	http://purl.obolibrary.org/obo/MONDO_0008633	http://www.w3.org/2004/02/skos/core#exactMatch	マックル・ウェルズ症候群	Muckle-Wells syndrome	https://omim.org/entry/191900	OMIM:191900
NANDO:2200983	VATER症候群	VATER syndrome	MONDO:0008642	http://purl.obolibrary.org/obo/MONDO_0008642	http://www.w3.org/2004/02/skos/core#exactMatch	VATER/VATER連合	VACTERL/vater association	https://omim.org/entry/192350	OMIM:192350
NANDO:2200962	4p-症候群	4p- Syndrome	MONDO:0008684	http://purl.obolibrary.org/obo/MONDO_0008684	http://www.w3.org/2004/02/skos/core#exactMatch	ウォルフ・ヒルシュホーン症候群	Wolf-Hirschhorn syndrome	https://omim.org/entry/194190	OMIM:194190
NANDO:2201040	気管支軟化症	Bronchomalacia	MONDO:0008888	http://purl.obolibrary.org/obo/MONDO_0008888	http://www.w3.org/2004/02/skos/core#exactMatch	Williams-Campbell症候群	Williams-Campbell syndrome	https://omim.org/entry/211450	OMIM:211450
NANDO:2200971	コステロ症候群	Costello syndrome	MONDO:0009026	http://purl.obolibrary.org/obo/MONDO_0009026	http://www.w3.org/2004/02/skos/core#exactMatch	コステロ症候群	Costello syndrome	https://omim.org/entry/218040	OMIM:218040
NANDO:2200908	ショ糖イソ麦芽糖分解酵素欠損症	Congenital sucrase-isomaltase deficiency	MONDO:0009114	http://purl.obolibrary.org/obo/MONDO_0009114	http://www.w3.org/2004/02/skos/core#exactMatch	ショ糖イソ麦芽糖分解酵素欠損症	congenital sucrase-isomaltase deficiency	https://omim.org/entry/222900	OMIM:222900
NANDO:2200910	エンテロキナーゼ欠損症	Enterokinase deficiency	MONDO:0009173	http://purl.obolibrary.org/obo/MONDO_0009173	http://www.w3.org/2004/02/skos/core#exactMatch	エンテロキナーゼ欠損症による先天性腸疾患	congenital enteropathy due to enteropeptidase deficiency	https://omim.org/entry/226200	OMIM:226200
NANDO:2201196	乳児型GM1-ガングリオシドーシス	GM1 gangliosidosis, infantile form	MONDO:0009260	http://purl.obolibrary.org/obo/MONDO_0009260	http://www.w3.org/2004/02/skos/core#exactMatch	GM1ガングリオシドーシス1型	GM1 gangliosidosis type 1	https://omim.org/entry/230500	OMIM:230500
NANDO:2201197	若年型GM1-ガングリオシドーシス	GM1 gangliosidosis, juvenile form	MONDO:0009261	http://purl.obolibrary.org/obo/MONDO_0009261	http://www.w3.org/2004/02/skos/core#exactMatch	GM1ガングリオシドーシス2型	GM1 gangliosidosis type 2	https://omim.org/entry/230600	OMIM:230600
NANDO:2201198	成人型GM1-ガングリオシドーシス	GM1 gangliosidosis, adult form	MONDO:0009262	http://purl.obolibrary.org/obo/MONDO_0009262	http://www.w3.org/2004/02/skos/core#exactMatch	GM1ガングリオシドーシス3型	GM1 gangliosidosis type 3	https://omim.org/entry/230650	OMIM:230650
NANDO:2201210	ゴーシェ病1型	Gaucher disease type 1	MONDO:0009265	http://purl.obolibrary.org/obo/MONDO_0009265	http://www.w3.org/2004/02/skos/core#exactMatch	ゴーシェ病I型	Gaucher disease type I	https://omim.org/entry/230800	OMIM:230800
NANDO:2201211	ゴーシェ病2型	Gaucher disease type 2	MONDO:0009266	http://purl.obolibrary.org/obo/MONDO_0009266	http://www.w3.org/2004/02/skos/core#exactMatch	ゴーシェ病II型	Gaucher disease type II	https://omim.org/entry/230900	OMIM:230900
NANDO:2201212	ゴーシェ病3型	Gaucher disease type 3	MONDO:0009267	http://purl.obolibrary.org/obo/MONDO_0009267	http://www.w3.org/2004/02/skos/core#exactMatch	ゴーシェ病III型	Gaucher disease type III	https://omim.org/entry/231000	OMIM:231000
NANDO:2200927	新生児ヘモクロマトーシス	Neonatal hemochromatosis	MONDO:0009275	http://purl.obolibrary.org/obo/MONDO_0009275	http://www.w3.org/2004/02/skos/core#exactMatch	新生児ヘモクロマトーシス	neonatal hemochromatosis	https://omim.org/entry/231100	OMIM:231100
NANDO:2201153	糖原病Ia型	Glycogen storage disease type 1a	MONDO:0009287	http://purl.obolibrary.org/obo/MONDO_0009287	http://www.w3.org/2004/02/skos/core#exactMatch	グルコース-6-ホスファターゼ欠損による糖原病IA型	glycogen storage disease due to glucose-6-phosphatase deficiency type IA	https://omim.org/entry/232200	OMIM:232200
NANDO:2201154	糖原病Ib型	Glycogen storage disease type 1b	MONDO:0009288	http://purl.obolibrary.org/obo/MONDO_0009288	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病Ib	glycogen storage disease Ib	https://omim.org/entry/232220	OMIM:232220
NANDO:2201154	糖原病Ib型	Glycogen storage disease type 1b	MONDO:0009288	http://purl.obolibrary.org/obo/MONDO_0009288	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病Ib	glycogen storage disease Ib	https://omim.org/entry/232240	OMIM:232240
NANDO:2200973	ハーラマン・ストライフ症候群	Hallermann-Streiff syndrome	MONDO:0009318	http://purl.obolibrary.org/obo/MONDO_0009318	http://www.w3.org/2004/02/skos/core#exactMatch	Hallermann-Streiff症候群	Hallermann-Streiff syndrome	https://omim.org/entry/234100	OMIM:234100
NANDO:2200886	パントテン酸キナーゼ関連神経変性症	Pantothenate kinase-associated neurodegeneration	MONDO:0009319	http://purl.obolibrary.org/obo/MONDO_0009319	http://www.w3.org/2004/02/skos/core#exactMatch	パントテン酸キナーゼ関連神経変性症	pantothenate kinase-associated neurodegeneration	https://omim.org/entry/234200	OMIM:234200
NANDO:2200981	モワット・ウィルソン症候群	Mowat-Wilson syndrome	MONDO:0009341	http://purl.obolibrary.org/obo/MONDO_0009341	http://www.w3.org/2004/02/skos/core#exactMatch	モワット・ウィルソン症候群	Mowat-Wilson syndrome	https://omim.org/entry/235730	OMIM:235730
NANDO:2201109	コバラミン代謝異常 cblE	Methylcobalamin deficiency cblE type 	MONDO:0009354	http://purl.obolibrary.org/obo/MONDO_0009354	http://www.w3.org/2004/02/skos/core#exactMatch	メチルコバラミン欠乏症cblE型	methylcobalamin deficiency type cblE	https://omim.org/entry/236270	OMIM:236270
NANDO:2201151	糖原病0a型	Glycogen storage disease type 0a	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	http://www.w3.org/2004/02/skos/core#exactMatch	肝グリコーゲン合成酵素欠損による糖原病	glycogen storage disorder due to hepatic glycogen synthase deficiency	https://omim.org/entry/240600	OMIM:240600
NANDO:2200992	道化師様魚鱗癬	Harlequin ichthyosis	MONDO:0009443	http://purl.obolibrary.org/obo/MONDO_0009443	http://www.w3.org/2004/02/skos/core#exactMatch	常染色体潜性先天性魚鱗癬4B	autosomal recessive congenital ichthyosis 4B	https://omim.org/entry/242500	OMIM:242500
NANDO:2201190	β-マンノシドーシス	Beta-mannosidosis	MONDO:0009562	http://purl.obolibrary.org/obo/MONDO_0009562	http://www.w3.org/2004/02/skos/core#exactMatch	β-マンノシドーシス	beta-mannosidosis	https://omim.org/entry/248510	OMIM:248510
NANDO:2201205	サポシンB欠損症	Saposin B deficiency	MONDO:0009590	http://purl.obolibrary.org/obo/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://omim.org/entry/249900	OMIM:249900
NANDO:2201203	若年型異染性白質ジストロフィー	Metachromatic leukodystrophy, juvenile form	MONDO:0009591	http://purl.obolibrary.org/obo/MONDO_0009591	http://www.w3.org/2004/02/skos/core#exactMatch	異染性白質ジストロフィー, 若年型	metachromatic leukodystrophy, juvenile form	https://omim.org/entry/250100	OMIM:250100
NANDO:2201111	コバラミン代謝異常 cblG	Methylcobalamin deficiency cblG type 	MONDO:0009609	http://purl.obolibrary.org/obo/MONDO_0009609	http://www.w3.org/2004/02/skos/core#exactMatch	メチルコバラミン欠乏症cblG型	methylcobalamin deficiency type cblG	https://omim.org/entry/250940	OMIM:250940
NANDO:2201105	コバラミン代謝異常 cblA	Methylmalonic acidemia cblA type	MONDO:0009613	http://purl.obolibrary.org/obo/MONDO_0009613	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸血症cblA型	methylmalonic aciduria, cblA type	https://omim.org/entry/251100	OMIM:251100
NANDO:2201106	コバラミン代謝異常 cblB	Methylmalonic acidemia cblB type	MONDO:0009614	http://purl.obolibrary.org/obo/MONDO_0009614	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸血症cblB型	methylmalonic aciduria, cblB type	https://omim.org/entry/251110	OMIM:251110
NANDO:2200913	微絨毛封入体病	Microvillus inclusion disease	MONDO:0009635	http://purl.obolibrary.org/obo/MONDO_0009635	http://www.w3.org/2004/02/skos/core#exactMatch	微絨毛封入体病	microvillus inclusion disease	https://omim.org/entry/251850	OMIM:251850
NANDO:2201174	A型ムコ多糖症III型	Mucopolysaccharidosis type III A	MONDO:0009655	http://purl.obolibrary.org/obo/MONDO_0009655	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症, 3A型	mucopolysaccharidosis type 3A	https://omim.org/entry/252900	OMIM:252900
NANDO:2201175	B型ムコ多糖症III型	Mucopolysaccharidosis type III B	MONDO:0009656	http://purl.obolibrary.org/obo/MONDO_0009656	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症, 10型	mucopolysaccharidosis type 3B	https://omim.org/entry/252920	OMIM:252920
NANDO:2201176	C型ムコ多糖症III型	Mucopolysaccharidosis type III C	MONDO:0009657	http://purl.obolibrary.org/obo/MONDO_0009657	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症, 3B型	mucopolysaccharidosis type 3C	https://omim.org/entry/252930	OMIM:252930
NANDO:2201177	D型ムコ多糖症III型	Mucopolysaccharidosis type III D	MONDO:0009658	http://purl.obolibrary.org/obo/MONDO_0009658	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症, 3C型	mucopolysaccharidosis type 3D	https://omim.org/entry/252940	OMIM:252940
NANDO:2201178	A型ムコ多糖症IV型	Mucopolysaccharidosis type IV A	MONDO:0009659	http://purl.obolibrary.org/obo/MONDO_0009659	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症4A型	mucopolysaccharidosis type 4A	https://omim.org/entry/253000	OMIM:253000
NANDO:2201179	B型ムコ多糖症IV型	Mucopolysaccharidosis type IV B	MONDO:0009660	http://purl.obolibrary.org/obo/MONDO_0009660	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症4B型	mucopolysaccharidosis type 4B	https://omim.org/entry/253010	OMIM:253010
NANDO:2200906	重症筋無力症	Myasthenia gravis	MONDO:0009688	http://purl.obolibrary.org/obo/MONDO_0009688	http://www.w3.org/2004/02/skos/core#exactMatch	重症筋無力症	myasthenia gravis	https://omim.org/entry/254200	OMIM:254200
NANDO:2200881	ラフォラ病	Lafora disease	MONDO:0009697	http://purl.obolibrary.org/obo/MONDO_0009697	http://www.w3.org/2004/02/skos/core#exactMatch	ラフォラ病	Lafora disease	https://omim.org/phenotypicSeries/PS254780	OMIMPS:254780
NANDO:2201266	赤芽球性プロトポルフィリン症	Erythropoietic protoporphyria	MONDO:0001676	http://purl.obolibrary.org/obo/MONDO_0001676	http://www.w3.org/2004/02/skos/core#exactMatch	赤芽球性プロトポルフィリン症	erythropoietic protoporphyria	https://omim.org/phenotypicSeries/PS177000	OMIMPS:177000
NANDO:2201453	Jervell Lange Nielsen症候群	Jervell Lange Nielsen syndrome	MONDO:0002441	http://purl.obolibrary.org/obo/MONDO_0002441	http://www.w3.org/2004/02/skos/core#exactMatch	ジャーベル・ランゲ・ニールセン症候群	Jervell and Lange-Nielsen syndrome	https://omim.org/phenotypicSeries/PS220400	OMIMPS:220400
NANDO:2201444	先天性全身性脂肪萎縮症	Generalized congenital lipodystrophy	MONDO:0006536	http://purl.obolibrary.org/obo/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://omim.org/phenotypicSeries/PS608594	OMIMPS:608594
NANDO:2201391	鰓耳腎症候群	Branchio-oto-renal syndrome	MONDO:0007029	http://purl.obolibrary.org/obo/MONDO_0007029	http://www.w3.org/2004/02/skos/core#exactMatch	鰓耳腎症候群	branchio-oto-renal syndrome	https://omim.org/phenotypicSeries/PS113650	OMIMPS:113650
NANDO:2201354	Stickler症候群1型	Stickler syndrome type 1	MONDO:0007160	http://purl.obolibrary.org/obo/MONDO_0007160	http://www.w3.org/2004/02/skos/core#exactMatch	スティックラー症候群1型	Stickler syndrome type 1	https://omim.org/entry/108300	OMIM:108300
NANDO:2201359	脛骨・中手骨型点状軟骨異形成症	Chondrodysplasia punctata, tibial-metacarpal type	MONDO:0007322	http://purl.obolibrary.org/obo/MONDO_0007322	http://www.w3.org/2004/02/skos/core#exactMatch	点状軟骨異形成症, 脛骨-中手骨型	chondrodysplasia punctata, tibial-metacarpal type	https://omim.org/entry/118651	OMIM:118651
NANDO:2201264	遺伝性コプロポルフィリン症	Hereditary coproporphyria	MONDO:0007369	http://purl.obolibrary.org/obo/MONDO_0007369	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性コプロポルフィリン症	hereditary coproporphyria	https://omim.org/entry/121300	OMIM:121300
NANDO:2201257	関節型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, hypermobility type	MONDO:0007523	http://purl.obolibrary.org/obo/MONDO_0007523	http://www.w3.org/2004/02/skos/core#exactMatch	エーラス・ダンロス症候群, 関節過可動型	Ehlers-Danlos syndrome, hypermobility type	https://omim.org/entry/130020	OMIM:130020
NANDO:2201392	ホルト・オーラム症候群	Holt-Oram syndrome	MONDO:0007732	http://purl.obolibrary.org/obo/MONDO_0007732	http://www.w3.org/2004/02/skos/core#exactMatch	ホルト・オーラム症候群	Holt-Oram syndrome	https://omim.org/entry/142900	OMIM:142900
NANDO:2201347	扁平椎異形成症 Torrance型	Platyspondylic dysplasia, Torrance type	MONDO:0007895	http://purl.obolibrary.org/obo/MONDO_0007895	http://www.w3.org/2004/02/skos/core#exactMatch	扁平脊椎異形成症, Torrance型	platyspondylic dysplasia, Torrance type	https://omim.org/entry/151210	OMIM:151210
NANDO:1201158	マルファン症候群	Marfan syndrome	MONDO:0007947	http://purl.obolibrary.org/obo/MONDO_0007947	http://www.w3.org/2004/02/skos/core#exactMatch	マルファン症候群	Marfan syndrome	https://omim.org/entry/154700	OMIM:154700
NANDO:2201364	流蝋骨症	Melorheostosis	MONDO:0007970	http://purl.obolibrary.org/obo/MONDO_0007970	http://www.w3.org/2004/02/skos/core#exactMatch	メロレオストーシス	melorheostosis	https://omim.org/entry/155950	OMIM:155950
NANDO:2201350	Kniest異形成症	Kniest dysplasia	MONDO:0007987	http://purl.obolibrary.org/obo/MONDO_0007987	http://www.w3.org/2004/02/skos/core#exactMatch	クニースト骨異形成症	Kniest dysplasia	https://omim.org/entry/156550	OMIM:156550
NANDO:2201512	先天性パラミオトニー	Paramyotonia congenita	MONDO:0008195	http://purl.obolibrary.org/obo/MONDO_0008195	http://www.w3.org/2004/02/skos/core#exactMatch	Von Eulenburg先天性パラミオトニア	paramyotonia congenita of Von Eulenburg	https://omim.org/entry/168300	OMIM:168300
NANDO:2201514	遺伝性高カリウム性周期性四肢麻痺	Hereditary hyperkalemic periodic paralysis	MONDO:0008224	http://purl.obolibrary.org/obo/MONDO_0008224	http://www.w3.org/2004/02/skos/core#exactMatch	高カリウム性周期性四肢麻痺	hyperkalemic periodic paralysis	https://omim.org/entry/170500	OMIM:170500
NANDO:2201263	急性間欠性ポルフィリン症	Acute intermittent porphyria	MONDO:0008294	http://purl.obolibrary.org/obo/MONDO_0008294	http://www.w3.org/2004/02/skos/core#exactMatch	急性間欠性ポルフィリン症	acute intermittent porphyria	https://omim.org/entry/176000	OMIM:176000
NANDO:2201265	異型ポルフィリン症	Variegate porphyria	MONDO:0008297	http://purl.obolibrary.org/obo/MONDO_0008297	http://www.w3.org/2004/02/skos/core#exactMatch	異型ポルフィリン症	variegate porphyria	https://omim.org/entry/176200	OMIM:176200
NANDO:2201348	先天性脊椎骨端異形成症	Spondyloepiphyseal dysplasia congenita	MONDO:0008471	http://purl.obolibrary.org/obo/MONDO_0008471	http://www.w3.org/2004/02/skos/core#exactMatch	先天性脊椎骨端異形成症	spondyloepiphyseal dysplasia congenita	https://omim.org/entry/183900	OMIM:183900
NANDO:2201349	脊椎骨端骨幹端異形成症 Strudwick型	Spondyloepimetaphyseal dysplasia, Strudwick type	MONDO:0008476	http://purl.obolibrary.org/obo/MONDO_0008476	http://www.w3.org/2004/02/skos/core#exactMatch	脊椎骨端骨幹端異形成症, Strudwick型	spondyloepimetaphyseal dysplasia, Strudwick type	https://omim.org/entry/184250	OMIM:184250
NANDO:2201427	タナトフォリック骨異形成症1型	Thanatophoric dysplasia type 1	MONDO:0008546	http://purl.obolibrary.org/obo/MONDO_0008546	http://www.w3.org/2004/02/skos/core#exactMatch	タナトフォリック骨異形成症1型	thanatophoric dysplasia type 1	https://omim.org/entry/187600	OMIM:187600
NANDO:2201428	タナトフォリック骨異形成症2型	Thanatophoric dysplasia type 2	MONDO:0008547	http://purl.obolibrary.org/obo/MONDO_0008547	http://www.w3.org/2004/02/skos/core#exactMatch	タナトフォリック骨異形成症2型	thanatophoric dysplasia type 2	https://omim.org/entry/187601	OMIM:187601
NANDO:2201345	軟骨無発生症2型	Achondrogenesis type 2	MONDO:0008702	http://purl.obolibrary.org/obo/MONDO_0008702	http://www.w3.org/2004/02/skos/core#exactMatch	軟骨無発生症II型	achondrogenesis type II	https://omim.org/entry/200610	OMIM:200610
NANDO:1201109	極長鎖アシル-CoA 脱水素酵素欠損症	very long-chain acyl-CoA dehydrogenase	MONDO:0008723	http://purl.obolibrary.org/obo/MONDO_0008723	http://www.w3.org/2004/02/skos/core#exactMatch	極長鎖アシルCoA脱水素酵素欠損症	very long chain acyl-CoA dehydrogenase deficiency	https://omim.org/entry/201475	OMIM:201475
NANDO:2201436	進行性家族性肝内胆汁うっ滞症1型	Progressive familial intrahepatic cholestasis type 1	MONDO:0008892	http://purl.obolibrary.org/obo/MONDO_0008892	http://www.w3.org/2004/02/skos/core#exactMatch	進行性家族性肝内胆汁うっ滞1型	progressive familial intrahepatic cholestasis type 1	https://omim.org/entry/211600	OMIM:211600
NANDO:2201361	Greenberg骨異形成症	Greenberg dysplasia	MONDO:0008974	http://purl.obolibrary.org/obo/MONDO_0008974	http://www.w3.org/2004/02/skos/core#exactMatch	Greenberg骨異形成症	Greenberg dysplasia	https://omim.org/entry/215140	OMIM:215140
NANDO:2201418	コーエン症候群	Cohen syndrome	MONDO:0008999	http://purl.obolibrary.org/obo/MONDO_0008999	http://www.w3.org/2004/02/skos/core#exactMatch	コーエン症候群	Cohen syndrome	https://omim.org/entry/216550	OMIM:216550
NANDO:2201368	頭蓋骨幹異形成症	Craniodiaphyseal dysplasia	MONDO:0009031	http://purl.obolibrary.org/obo/MONDO_0009031	http://www.w3.org/2004/02/skos/core#exactMatch	頭蓋骨幹異形成症	craniodiaphyseal dysplasia	https://omim.org/entry/218300	OMIM:218300
NANDO:2201530	バレー・ジェロルド症候群	Baller-Gerold symdrome	MONDO:0009039	http://purl.obolibrary.org/obo/MONDO_0009039	http://www.w3.org/2004/02/skos/core#exactMatch	バラー・ゲロルト症候群	Baller-Gerold syndrome	https://omim.org/entry/218600	OMIM:218600
NANDO:2201236	非腎型シスチン症	Non-nephropathic cystinosis 	MONDO:0009064	http://purl.obolibrary.org/obo/MONDO_0009064	http://www.w3.org/2004/02/skos/core#exactMatch	眼型シスチン症	ocular cystinosis	https://omim.org/entry/219750	OMIM:219750
NANDO:2201235	中間型シスチン症	Intermediate cystinosis	MONDO:0009066	http://purl.obolibrary.org/obo/MONDO_0009066	http://www.w3.org/2004/02/skos/core#exactMatch	中間型シスチン症	juvenile nephropathic cystinosis	https://omim.org/entry/219900	OMIM:219900
NANDO:2201365	異骨性骨硬化症	Dysosteosclerosis	MONDO:0009138	http://purl.obolibrary.org/obo/MONDO_0009138	http://www.w3.org/2004/02/skos/core#exactMatch	硬化性骨異形成症	dysosteosclerosis	https://omim.org/entry/224300	OMIM:224300
NANDO:2201261	皮膚脆弱型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, dermatosparaxis type	MONDO:0009161	http://purl.obolibrary.org/obo/MONDO_0009161	http://www.w3.org/2004/02/skos/core#exactMatch	エーラス・ダンロス症候群, 皮膚脆弱型	Ehlers-Danlos syndrome, dermatosparaxis type	https://omim.org/entry/225410	OMIM:225410
NANDO:2201383	劣性重症汎発型栄養障害型表皮水疱症	Recessive dystrophic epidermolysis bullosa, generalized severe	MONDO:0009179	http://purl.obolibrary.org/obo/MONDO_0009179	http://www.w3.org/2004/02/skos/core#exactMatch	劣性栄養障害型表皮水疱症	recessive dystrophic epidermolysis bullosa	https://omim.org/entry/226600	OMIM:226600
NANDO:2201379	非ヘルリッツ型表皮水疱症	Non-Herlitz junctional epidermolysis bullosa	MONDO:0009180	http://purl.obolibrary.org/obo/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://omim.org/entry/226650	OMIM:226650
NANDO:2201376	筋ジストロフィー合併型表皮水疱症	Epidermolysis bullosa simplex with muscular dystrophy	MONDO:0009181	http://purl.obolibrary.org/obo/MONDO_0009181	http://www.w3.org/2004/02/skos/core#exactMatch	単純型表皮水疱症5B	epidermolysis bullosa simplex 5B, with muscular dystrophy	https://omim.org/entry/226670	OMIM:226670
NANDO:2201378	ヘルリッツ型表皮水疱症	Herlitz junctional epidermolysis bullosa	MONDO:0009182	http://purl.obolibrary.org/obo/MONDO_0009182	http://www.w3.org/2004/02/skos/core#exactMatch	接合部型表皮水疱症ヘルリッツ型	junctional epidermolysis bullosa Herlitz type	https://omim.org/entry/226700	OMIM:226700
NANDO:2201380	幽門閉鎖合併型表皮水疱症	Junctional epidermolysis bullosa with pyloric atresia	MONDO:0009183	http://purl.obolibrary.org/obo/MONDO_0009183	http://www.w3.org/2004/02/skos/core#exactMatch	接合部型幽門閉鎖症合併型表皮水疱症	junctional epidermolysis bullosa with pyloric atresia	https://omim.org/entry/226730	OMIM:226730
NANDO:2201280	p22phox欠損慢性肉芽腫症	p22phox-deficient chronic granulomatous disease	MONDO:0009308	http://purl.obolibrary.org/obo/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://omim.org/entry/233690	OMIM:233690
NANDO:2201281	p47phox欠損慢性肉芽腫症	p47phox-deficient chronic granulomatous disease	MONDO:0009309	http://purl.obolibrary.org/obo/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://omim.org/entry/233700	OMIM:233700
NANDO:2201282	p67phox欠損慢性肉芽腫症	p67phox-deficient chronic granulomatous disease	MONDO:0009310	http://purl.obolibrary.org/obo/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://omim.org/entry/233710	OMIM:233710
NANDO:2201476	古典的ホジキンリンパ腫	Classical Hodgkin's lymphoma	MONDO:0009348	http://purl.obolibrary.org/obo/MONDO_0009348	http://www.w3.org/2004/02/skos/core#exactMatch	古典的ホジキンリンパ腫	classic Hodgkin lymphoma	https://omim.org/entry/236000	OMIM:236000
NANDO:2201479	高カルシウム尿症を伴う遺伝性低リン血性くる病	Hereditary hypophosphatemic rickets with hypercalciuria	MONDO:0009431	http://purl.obolibrary.org/obo/MONDO_0009431	http://www.w3.org/2004/02/skos/core#exactMatch	高カルシウム尿症を伴う遺伝性低リン血性くる病	hereditary hypophosphatemic rickets with hypercalciuria	https://omim.org/entry/241530	OMIM:241530
NANDO:2201401	視床下部過誤腫症候群	Hypothalamic hamartoma syndrome	MONDO:0009436	http://purl.obolibrary.org/obo/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://omim.org/entry/241800	OMIM:241800
NANDO:2201385	ギャロウェイ・モワト症候群	Galloway-Mowat syndrome	MONDO:0009627	http://purl.obolibrary.org/obo/MONDO_0009627	http://www.w3.org/2004/02/skos/core#exactMatch	ギャロウェイ・モワト症候群	Galloway-Mowat syndrome	https://omim.org/phenotypicSeries/PS251300	OMIMPS:251300
NANDO:2201430	脊髄性筋萎縮症I型	Spinal muscular atrophy type I	MONDO:0009669	http://purl.obolibrary.org/obo/MONDO_0009669	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄性筋萎縮症1型	spinal muscular atrophy, type 1	https://omim.org/entry/253300	OMIM:253300
NANDO:2201432	脊髄性筋萎縮症III型	Spinal muscular atrophy type III	MONDO:0009672	http://purl.obolibrary.org/obo/MONDO_0009672	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄性筋萎縮症III型	spinal muscular atrophy, type III	https://omim.org/entry/253400	OMIM:253400
NANDO:2201431	脊髄性筋萎縮症II型	Spinal muscular atrophy type II	MONDO:0009673	http://purl.obolibrary.org/obo/MONDO_0009673	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄性筋萎縮症II型	spinal muscular atrophy, type II	https://omim.org/entry/253550	OMIM:253550
NANDO:1200175	リー脳症	Leigh's encephalomyelopathy	MONDO:0009723	http://purl.obolibrary.org/obo/MONDO_0009723	http://www.w3.org/2004/02/skos/core#exactMatch	リー症候群	Leigh syndrome	https://omim.org/entry/256000	OMIM:256000
NANDO:1200119	ガラクトシアリドーシス	Galactosialidosis	MONDO:0009737	http://purl.obolibrary.org/obo/MONDO_0009737	http://www.w3.org/2004/02/skos/core#exactMatch	ガラクトシアリドーシス	galactosialidosis	https://omim.org/entry/256540	OMIM:256540
NANDO:1200118	シアリドーシスII型	Sialidosis type 2	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	http://www.w3.org/2004/02/skos/core#exactMatch	シアリドーシス2型	sialidosis type 2	https://omim.org/entry/256150	OMIM:256150
NANDO:1200118	シアリドーシスII型	Sialidosis type 2	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	http://www.w3.org/2004/02/skos/core#exactMatch	シアリドーシス2型	sialidosis type 2	https://omim.org/entry/256550	OMIM:256550
NANDO:1200061	ニーマン・ピック病A型	Niemann-Pick disease type A	MONDO:0009756	http://purl.obolibrary.org/obo/MONDO_0009756	http://www.w3.org/2004/02/skos/core#exactMatch	ニーマン・ピック病A型	Niemann-Pick disease type A	https://omim.org/entry/257200	OMIM:257200
NANDO:1200195	亜急性硬化性全脳炎	Subacute sclerosing panencephalitis	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	http://www.w3.org/2004/02/skos/core#exactMatch	亜急性硬化性全脳炎	subacute sclerosing panencephalitis	https://omim.org/entry/260470	OMIM:260470
NANDO:1200072	サンドホフ病	Sandhoff disease	MONDO:0010006	http://purl.obolibrary.org/obo/MONDO_0010006	http://www.w3.org/2004/02/skos/core#exactMatch	サンドホフ病	Sandhoff disease	https://omim.org/entry/268800	OMIM:268800
NANDO:1200147	乳児型遊離シアル酸蓄積症	Infantile free sialic acid storage disease	MONDO:0010027	http://purl.obolibrary.org/obo/MONDO_0010027	http://www.w3.org/2004/02/skos/core#exactMatch	遊離シアル酸蓄積症, 乳児型	free sialic acid storage disease, infantile form	https://omim.org/entry/269920	OMIM:269920
NANDO:1200007	脊髄性筋萎縮症IV型	Spinal muscular atrophy type IV	MONDO:0010056	http://purl.obolibrary.org/obo/MONDO_0010056	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄性筋萎縮症IV型	spinal muscular atrophy, type IV	https://omim.org/entry/271150	OMIM:271150
NANDO:1200083	マルチプルサルファターゼ欠損症	Multiple sulfatase deficiency	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	http://www.w3.org/2004/02/skos/core#exactMatch	マルチプルサルファターゼ欠損症	mucosulfatidosis	https://omim.org/entry/272200	OMIM:272200
NANDO:1200073	AB型GM2ガングリオシドーシス	GM2 gangliosidosis AB variant	MONDO:0010099	http://purl.obolibrary.org/obo/MONDO_0010099	http://www.w3.org/2004/02/skos/core#exactMatch	テイ・サックス病AB変異体	Tay-Sachs disease AB variant	https://omim.org/entry/272750	OMIM:272750
NANDO:1200071	Tay-Sachs病	Tay-Sachs disease	MONDO:0010100	http://purl.obolibrary.org/obo/MONDO_0010100	http://www.w3.org/2004/02/skos/core#exactMatch	テイ・サックス病	Tay-Sachs disease	https://omim.org/entry/272800	OMIM:272800
NANDO:1200050	ビタミンE単独欠乏性失調症	Ataxia with isolated vitamin E deficiency	MONDO:0010188	http://purl.obolibrary.org/obo/MONDO_0010188	http://www.w3.org/2004/02/skos/core#exactMatch	家族性ビタミンE単独欠損症	familial isolated deficiency of vitamin E	https://omim.org/entry/277460	OMIM:277460
NANDO:1200222	ダノン病	Danon disease	MONDO:0010281	http://purl.obolibrary.org/obo/MONDO_0010281	http://www.w3.org/2004/02/skos/core#exactMatch	ダノン病	Danon disease	https://omim.org/entry/300257	OMIM:300257
NANDO:1200157	ファブリー病	Fabry disease	MONDO:0010526	http://purl.obolibrary.org/obo/MONDO_0010526	http://www.w3.org/2004/02/skos/core#exactMatch	ファブリー病	Fabry disease	https://omim.org/entry/301500	OMIM:301500
NANDO:1200097	Hunter症候群	Hunter syndrome	MONDO:0010674	http://purl.obolibrary.org/obo/MONDO_0010674	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症2型	mucopolysaccharidosis type 2	https://omim.org/entry/309900	OMIM:309900
NANDO:1200001	球脊髄性筋萎縮症	Spinal and bulbar muscular atrophy	MONDO:0010735	http://purl.obolibrary.org/obo/MONDO_0010735	http://www.w3.org/2004/02/skos/core#exactMatch	ケネディ病	Kennedy disease	https://omim.org/entry/313200	OMIM:313200
NANDO:1200176	ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群	Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome	MONDO:0010789	http://purl.obolibrary.org/obo/MONDO_0010789	http://www.w3.org/2004/02/skos/core#exactMatch	ミトコンドリア脳筋症，乳酸アシドーシス，脳卒中様エピソード	MELAS syndrome	https://omim.org/entry/540000	OMIM:540000
NANDO:1200177	赤色ぼろ線維・ミオクローヌスてんかん症候群	Myoclonus epilepsy associated with ragged-red fibers	MONDO:0010790	http://purl.obolibrary.org/obo/MONDO_0010790	http://www.w3.org/2004/02/skos/core#exactMatch	赤色ぼろ線維・ミオクローヌスてんかん症候群	MERRF syndrome	https://omim.org/entry/545000	OMIM:545000
NANDO:1200191	致死性家族性不眠症	Fatal familial insomnia	MONDO:0010808	http://purl.obolibrary.org/obo/MONDO_0010808	http://www.w3.org/2004/02/skos/core#exactMatch	致死性家族性不眠症	fatal familial insomnia	https://omim.org/entry/600072	OMIM:600072
NANDO:1200115	ヒアルロニダーゼ欠損症	Hyaluronidase deficiency	MONDO:0011093	http://purl.obolibrary.org/obo/MONDO_0011093	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症9型	mucopolysaccharidosis type 9	https://omim.org/entry/601492	OMIM:601492
NANDO:1200218	縁取り空胞を伴う遠位型ミオパチー	Distal myopathy with rimmed vacuoles	MONDO:0011603	http://purl.obolibrary.org/obo/MONDO_0011603	http://www.w3.org/2004/02/skos/core#exactMatch	縁取り空胞を伴う遠位型ミオパチー	GNE myopathy	https://omim.org/entry/605820	OMIM:605820
NANDO:1200094	ハーラー病	Hurler disease	MONDO:0011758	http://purl.obolibrary.org/obo/MONDO_0011758	http://www.w3.org/2004/02/skos/core#exactMatch	Hurler症候群	Hurler syndrome	https://omim.org/entry/607014	OMIM:607014
NANDO:1200096	ハーラー／シェイエ病	Hurler-Scheie disease	MONDO:0011759	http://purl.obolibrary.org/obo/MONDO_0011759	http://www.w3.org/2004/02/skos/core#exactMatch	Hurler-Scheie症候群	Hurler-Scheie syndrome	https://omim.org/entry/607015	OMIM:607015
NANDO:1200095	シェイエ病	Scheie disease	MONDO:0011760	http://purl.obolibrary.org/obo/MONDO_0011760	http://www.w3.org/2004/02/skos/core#exactMatch	Scheie症候群	Scheie syndrome	https://omim.org/entry/607016	OMIM:607016
NANDO:1200062	ニーマン・ピック病B型	Niemann-Pick disease type B	MONDO:0011871	http://purl.obolibrary.org/obo/MONDO_0011871	http://www.w3.org/2004/02/skos/core#exactMatch	ニーマン・ピック病B型	Niemann-Pick disease type B	https://omim.org/entry/607616	OMIM:607616
NANDO:1200135	シンドラー病I型	Schindler disease type I	MONDO:0012221	http://purl.obolibrary.org/obo/MONDO_0012221	http://www.w3.org/2004/02/skos/core#exactMatch	アルファ-N-アセチルガラクトサミニダーゼ欠損症1型	alpha-N-acetylgalactosaminidase deficiency type 1	https://omim.org/entry/609241	OMIM:609241
NANDO:1200136	シンドラー病II型	Schindler disease type 2	MONDO:0012222	http://purl.obolibrary.org/obo/MONDO_0012222	http://www.w3.org/2004/02/skos/core#exactMatch	アルファ-N-アセチルガラクトサミニダーゼ欠損症2型	alpha-N-acetylgalactosaminidase deficiency type 2	https://omim.org/entry/609242	OMIM:609242
NANDO:1200048	脊髄小脳失調症36型	Spinocerebellar ataxia type 36	MONDO:0013594	http://purl.obolibrary.org/obo/MONDO_0013594	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄小脳失調症36型	spinocerebellar ataxia type 36	https://omim.org/entry/614153	OMIM:614153
NANDO:1200016	シャルコー・マリー・トゥース病	Charcot-Marie-Tooth disease	MONDO:0015626	http://purl.obolibrary.org/obo/MONDO_0015626	http://www.w3.org/2004/02/skos/core#exactMatch	シャルコー・マリー・トゥース病	Charcot-Marie-Tooth disease	https://omim.org/phenotypicSeries/PS118220	OMIMPS:118220
NANDO:1200150	セロイドリポフスチノーシス	Neuronal ceroid-lipofuscinosis	MONDO:0016295	http://purl.obolibrary.org/obo/MONDO_0016295	http://www.w3.org/2004/02/skos/core#exactMatch	神経セロイドリポフスチン症	neuronal ceroid lipofuscinosis	https://omim.org/phenotypicSeries/PS256730	OMIMPS:256730
NANDO:1200183	もやもや病	Moyamoya disease	MONDO:0016820	http://purl.obolibrary.org/obo/MONDO_0016820	http://www.w3.org/2004/02/skos/core#exactMatch	もやもや病	Moyamoya disease	https://omim.org/phenotypicSeries/PS252350	OMIMPS:252350
NANDO:1200139	乳児型ポンペ病	Classic infantile Pompe disease	MONDO:0017694	http://purl.obolibrary.org/obo/MONDO_0017694	http://www.w3.org/2004/02/skos/core#exactMatch	酸性マルターゼ欠損による糖原病, 乳児期発症	glycogen storage disease due to acid maltase deficiency, infantile onset	https://omim.org/entry/232300	OMIM:232300
NANDO:1200165	副腎白質ジストロフィー	Adrenoleukodystrophy	MONDO:0018544	http://purl.obolibrary.org/obo/MONDO_0018544	http://www.w3.org/2004/02/skos/core#exactMatch	副腎白質ジストロフィー	adrenoleukodystrophy	https://omim.org/entry/300100	OMIM:300100
NANDO:1200125	ムコリピドーシスIII型	Mucolipidosis III	MONDO:0018931	http://purl.obolibrary.org/obo/MONDO_0018931	http://www.w3.org/2004/02/skos/core#exactMatch	ムコリピドーシスIII型, α／β	mucolipidosis type III, alpha/beta	https://omim.org/entry/252600	OMIM:252600
NANDO:1200021	先天性筋無力症候群	Congenital myasthenic syndrome	MONDO:0018940	http://purl.obolibrary.org/obo/MONDO_0018940	http://www.w3.org/2004/02/skos/core#exactMatch	先天性筋無力症候群	congenital myasthenic syndrome	https://omim.org/phenotypicSeries/PS601462	OMIMPS:601462
NANDO:1200015	Mcleod症候群	McLeod syndrome	MONDO:0018945	http://purl.obolibrary.org/obo/MONDO_0018945	http://www.w3.org/2004/02/skos/core#exactMatch	XK関連神経変性疾患	XK-related neurodegenerative disease	https://omim.org/entry/300842	OMIM:300842
NANDO:1200216	遠位型ミオパチー	Distal myopathy	MONDO:0018949	http://purl.obolibrary.org/obo/MONDO_0018949	http://www.w3.org/2004/02/skos/core#exactMatch	遠位型ミオパチー	distal myopathy	https://omim.org/phenotypicSeries/PS160500	OMIMPS:160500
NANDO:1200009	進行性核上性麻痺	Progressive supranuclear palsy	MONDO:0019037	http://purl.obolibrary.org/obo/MONDO_0019037	http://www.w3.org/2004/02/skos/core#exactMatch	進行性核上性麻痺	progressive supranuclear palsy	https://omim.org/phenotypicSeries/PS601104	OMIMPS:601104
NANDO:1200052	痙性対麻痺	Hereditary spastic paraplegia	MONDO:0019064	http://purl.obolibrary.org/obo/MONDO_0019064	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性痙性対麻痺	hereditary spastic paraplegia	https://omim.org/phenotypicSeries/PS303350	OMIMPS:303350
NANDO:1200143	ウォルマン病	Wolman disease	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	http://www.w3.org/2004/02/skos/core#exactMatch	酸性リパーゼ欠損症	Wolman disease	https://omim.org/entry/620151	OMIM:620151
NANDO:1200144	コレステロールエステル蓄積症	Cholesterol ester storage disease	MONDO:0019149	http://purl.obolibrary.org/obo/MONDO_0019149	http://www.w3.org/2004/02/skos/core#exactMatch	コレステロールエステル蓄積症	cholesteryl ester storage disease	https://omim.org/entry/278000	OMIM:278000
NANDO:1200338	ネザートン症候群	Netherton syndrome	MONDO:0009735	http://purl.obolibrary.org/obo/MONDO_0009735	http://www.w3.org/2004/02/skos/core#exactMatch	ネザートン症候群	Netherton syndrome	https://omim.org/entry/256500	OMIM:256500
NANDO:1200356	シュワッハマン・ダイアモンド症候群	Shwachman-Diamond syndrome	MONDO:0009833	http://purl.obolibrary.org/obo/MONDO_0009833	http://www.w3.org/2004/02/skos/core#exactMatch	シュワッハマン・ダイアモンド症候群	Shwachman-Diamond syndrome	https://omim.org/phenotypicSeries/PS260400	OMIMPS:260400
NANDO:1200422	剥離型間質性肺炎 	Desquamative interstitial pneumonia	MONDO:0009887	http://purl.obolibrary.org/obo/MONDO_0009887	http://www.w3.org/2004/02/skos/core#exactMatch	剥離性間質性肺炎	desquamative interstitial pneumonia	https://omim.org/entry/263000	OMIM:263000
NANDO:1200427	肺静脈閉塞症	Pulmonary veno-occlusive disease	MONDO:0009937	http://purl.obolibrary.org/obo/MONDO_0009937	http://www.w3.org/2004/02/skos/core#exactMatch	肺静脈閉塞症	pulmonary venoocclusive disease	https://omim.org/phenotypicSeries/PS265450	OMIMPS:265450
NANDO:1200322	細網異形成症	Reticular dysgenesis	MONDO:0009973	http://purl.obolibrary.org/obo/MONDO_0009973	http://www.w3.org/2004/02/skos/core#exactMatch	細網異形成症	reticular dysgenesis	https://omim.org/entry/267500	OMIM:267500
NANDO:1200327	ZAP-70欠損症	Zap-70 deficiency	MONDO:0010023	http://purl.obolibrary.org/obo/MONDO_0010023	http://www.w3.org/2004/02/skos/core#exactMatch	ZAP70欠損による複合免疫不全症	combined immunodeficiency due to ZAP70 deficiency	https://omim.org/entry/269840	OMIM:269840
NANDO:1200279	シェーグレン症候群	Sjogren's syndrome	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	http://www.w3.org/2004/02/skos/core#exactMatch	シェーグレン症候群	Sjogren syndrome	https://omim.org/entry/270150	OMIM:270150
NANDO:1200317	先天性血栓性血小板減少性紫斑病	Congenital thrombotic thrombocytopenic purpura	MONDO:0010122	http://purl.obolibrary.org/obo/MONDO_0010122	http://www.w3.org/2004/02/skos/core#exactMatch	先天性血栓性血小板減少性紫斑病	congenital thrombotic thrombocytopenic purpura	https://omim.org/entry/274150	OMIM:274150
NANDO:1200404	NR0B1異常症	NR0B1　abnormality	MONDO:0010226	http://purl.obolibrary.org/obo/MONDO_0010226	http://www.w3.org/2004/02/skos/core#exactMatch	46,XY性逆転2	46,XY sex reversal 2	https://omim.org/entry/300018	OMIM:300018
NANDO:1200360	免疫不全を伴う無汗性外胚葉形成異常症	Anhidrotic ectodermal dysplasia with immunodeficiency	MONDO:0010293	http://purl.obolibrary.org/obo/MONDO_0010293	http://www.w3.org/2004/02/skos/core#exactMatch	外胚葉形成不全および免疫不全症	ectodermal dysplasia and immune deficiency	https://omim.org/phenotypicSeries/PS300291	OMIMPS:300291
NANDO:1200321	X連鎖重症複合免疫不全症	X-linked severe combined immunodeficiency	MONDO:0010315	http://purl.obolibrary.org/obo/MONDO_0010315	http://www.w3.org/2004/02/skos/core#exactMatch	γ鎖欠損によるT-B+重症複合免疫不全症	T-B+ severe combined immunodeficiency due to gamma chain deficiency	https://omim.org/entry/300400	OMIM:300400
NANDO:1200343	X連鎖無ガンマグロブリン血症	X-linked agammaglobulinemia	MONDO:0010421	http://purl.obolibrary.org/obo/MONDO_0010421	http://www.w3.org/2004/02/skos/core#exactMatch	ブルトン型無ガンマグロブリン血症	Bruton-type agammaglobulinemia	https://omim.org/entry/300755	OMIM:300755
NANDO:1200330	ウィスコット・オルドリッチ症候群	Wiskott-Aldrich syndrome	MONDO:0010518	http://purl.obolibrary.org/obo/MONDO_0010518	http://www.w3.org/2004/02/skos/core#exactMatch	ウィスコット・オルドリッチ症候群	Wiskott-Aldrich syndrome	https://omim.org/entry/301000	OMIM:301000
NANDO:1200223	過剰自己貪食を伴うＸ連鎖性ミオパチー	X-linked Myopathy with excessive autophagy	MONDO:0010684	http://purl.obolibrary.org/obo/MONDO_0010684	http://www.w3.org/2004/02/skos/core#exactMatch	過剰自己貪食を伴うＸ連鎖性ミオパチー	X-linked myopathy with excessive autophagy	https://omim.org/entry/310440	OMIM:310440
NANDO:1200437	バッド・キアリ症候群	Budd-Chiari syndrome	MONDO:0010947	http://purl.obolibrary.org/obo/MONDO_0010947	http://www.w3.org/2004/02/skos/core#exactMatch	バッド・キアリ症候群	Budd-Chiari syndrome	https://omim.org/entry/600880	OMIM:600880
NANDO:1200371	後縦靱帯骨化症	Ossification of posterior longitudinal ligament	MONDO:0011230	http://purl.obolibrary.org/obo/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://omim.org/entry/602475	OMIM:602475
NANDO:1200324	オーメン症候群	Omenn syndrome	MONDO:0011338	http://purl.obolibrary.org/obo/MONDO_0011338	http://www.w3.org/2004/02/skos/core#exactMatch	オーメン症候群	Omenn syndrome	https://omim.org/entry/603554	OMIM:603554
NANDO:1200328	MHCクラスI欠損症	MHC class I deficiency	MONDO:0011476	http://purl.obolibrary.org/obo/MONDO_0011476	http://www.w3.org/2004/02/skos/core#exactMatch	MHCクラスI欠損症	MHC class I deficiency	https://omim.org/phenotypicSeries/PS604571	OMIMPS:604571
NANDO:1200430	リンパ脈管筋腫症	Lymphangioleiomyomatosis	MONDO:0011705	http://purl.obolibrary.org/obo/MONDO_0011705	http://www.w3.org/2004/02/skos/core#exactMatch	リンパ脈管筋腫症	lymphangioleiomyomatosis	https://omim.org/entry/606690	OMIM:606690
NANDO:1200361	IRAK4欠損症	IRAK4 deficiency	MONDO:0011888	http://purl.obolibrary.org/obo/MONDO_0011888	http://www.w3.org/2004/02/skos/core#exactMatch	免疫不全症67	immunodeficiency 67	https://omim.org/entry/607676	OMIM:607676
NANDO:1200263	多発血管炎性肉芽腫症	Granulomatosis with polyangiitis	MONDO:0012105	http://purl.obolibrary.org/obo/MONDO_0012105	http://www.w3.org/2004/02/skos/core#exactMatch	多発血管炎性肉芽腫症	granulomatosis with polyangiitis	https://omim.org/entry/608710	OMIM:608710
NANDO:1200373	特発性大腿骨頭壊死症	Idiopathic osteonecrosis of femoral head	MONDO:0012126	http://purl.obolibrary.org/obo/MONDO_0012126	http://www.w3.org/2004/02/skos/core#exactMatch	家族性虚血性大腿骨頭壊死	familial avascular necrosis of femoral head	https://omim.org/phenotypicSeries/PS608805	OMIMPS:608805
NANDO:1200326	CD8欠損症	CD8 deficiency	MONDO:0012161	http://purl.obolibrary.org/obo/MONDO_0012161	http://www.w3.org/2004/02/skos/core#exactMatch	CD8α鎖変異に関連する呼吸器感染に対する感受性	susceptibility to respiratory infections associated with CD8alpha chain mutation	https://omim.org/entry/608957	OMIM:608957
NANDO:1200336	RIDDLE症候群	RIDDLE syndrome	MONDO:0012764	http://purl.obolibrary.org/obo/MONDO_0012764	http://www.w3.org/2004/02/skos/core#exactMatch	RIDDLE症候群	RIDDLE syndrome	https://omim.org/entry/611943	OMIM:611943
NANDO:1200362	MyD88欠損症	MyD88 deficiency	MONDO:0012839	http://purl.obolibrary.org/obo/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://omim.org/entry/612260	OMIM:612260
NANDO:1200429	慢性血栓塞栓性肺高血圧症	Chronic thromboembolic pulmonary hypertension	MONDO:0013024	http://purl.obolibrary.org/obo/MONDO_0013024	http://www.w3.org/2004/02/skos/core#exactMatch	慢性血栓塞栓性肺高血圧症	chronic thromboembolic pulmonary hypertension	https://omim.org/entry/612862	OMIM:612862
NANDO:1200405	NR5A1異常症	NR5A1 abnormality	MONDO:0013066	http://purl.obolibrary.org/obo/MONDO_0013066	http://www.w3.org/2004/02/skos/core#exactMatch	46,XY性逆転3	46,XY sex reversal 3	https://omim.org/entry/612965	OMIM:612965
NANDO:1200325	プリンヌクレオシドホスホリラーゼ欠損症	Purine nucleoside phosphorylase deficiency	MONDO:0013171	http://purl.obolibrary.org/obo/MONDO_0013171	http://www.w3.org/2004/02/skos/core#exactMatch	プリンヌクレオシドホスホリラーゼ欠損症	purine nucleoside phosphorylase deficiency	https://omim.org/entry/613179	OMIM:613179
NANDO:1200402	P450酸化還元酵素欠損症	P450 oxidoreductase deficiency	MONDO:0013310	http://purl.obolibrary.org/obo/MONDO_0013310	http://www.w3.org/2004/02/skos/core#exactMatch	シトクロムP450酸化還元酵素欠損による先天性副腎過形成	congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	https://omim.org/entry/613571	OMIM:613571
NANDO:1200440	原発性硬化性胆管炎	Primary sclerosing cholangitis	MONDO:0013433	http://purl.obolibrary.org/obo/MONDO_0013433	http://www.w3.org/2004/02/skos/core#exactMatch	原発性硬化性胆管炎	primary sclerosing cholangitis	https://omim.org/entry/613806	OMIM:613806
NANDO:1200244	稽留性肢端皮膚炎の汎発化	Acrodermatitis continua of Hallopeau	MONDO:0013626	http://purl.obolibrary.org/obo/MONDO_0013626	http://www.w3.org/2004/02/skos/core#exactMatch	乾癬14, 膿疱性	psoriasis 14, pustular	https://omim.org/entry/614204	OMIM:614204
NANDO:1200406	IMAge症候群	IMAge syndrome	MONDO:0013873	http://purl.obolibrary.org/obo/MONDO_0013873	http://www.w3.org/2004/02/skos/core#exactMatch	IMAge症候群	IMAGe syndrome	https://omim.org/entry/614732	OMIM:614732
NANDO:1200411	アジソン病	Addison's disease	MONDO:0015129	http://purl.obolibrary.org/obo/MONDO_0015129	http://www.w3.org/2004/02/skos/core#exactMatch	慢性原発性副腎機能不全	chronic primary adrenal insufficiency	https://omim.org/entry/240200	OMIM:240200
NANDO:1200363	慢性皮膚粘膜カンジダ症	Chronic mucocutaneous candidiasis	MONDO:0015279	http://purl.obolibrary.org/obo/MONDO_0015279	http://www.w3.org/2004/02/skos/core#exactMatch	慢性皮膚粘膜カンジダ症	chronic mucocutaneous candidiasis	https://omim.org/phenotypicSeries/PS114580	OMIMPS:114580
NANDO:1200344	分類不能型免疫不全症	Common variable immunodeficiency	MONDO:0015517	http://purl.obolibrary.org/obo/MONDO_0015517	http://www.w3.org/2004/02/skos/core#exactMatch	分類不能型免疫不全症	common variable immunodeficiency	https://omim.org/phenotypicSeries/PS607594	OMIMPS:607594
NANDO:1200304	先天性角化不全症	Dyskeratosis congenita	MONDO:0015780	http://purl.obolibrary.org/obo/MONDO_0015780	http://www.w3.org/2004/02/skos/core#exactMatch	先天性角化異常症	dyskeratosis congenita	https://omim.org/phenotypicSeries/PS127550	OMIMPS:127550
NANDO:1200295	再生不良性貧血	Aplastic anemia	MONDO:0015909	http://purl.obolibrary.org/obo/MONDO_0015909	http://www.w3.org/2004/02/skos/core#exactMatch	再生不良性貧血	aplastic anemia	https://omim.org/entry/609135	OMIM:609135
NANDO:1200235	単純型表皮水疱症	Epidermolysis bullosa simplex	MONDO:0017610	http://purl.obolibrary.org/obo/MONDO_0017610	http://www.w3.org/2004/02/skos/core#exactMatch	単純型表皮水疱症	epidermolysis bullosa simplex	https://omim.org/phenotypicSeries/PS131760	OMIMPS:131760
NANDO:1200236	接合部型表皮水疱症	Junctional epidermolysis bullosa	MONDO:0017612	http://purl.obolibrary.org/obo/MONDO_0017612	http://www.w3.org/2004/02/skos/core#exactMatch	接合部型表皮水疱症	junctional epidermolysis bullosa	https://omim.org/phenotypicSeries/PS226650	OMIMPS:226650
NANDO:1200251	高安動脈炎	Takayasu arteritis	MONDO:0017991	http://purl.obolibrary.org/obo/MONDO_0017991	http://www.w3.org/2004/02/skos/core#exactMatch	高安動脈炎	Takayasu arteritis	https://omim.org/entry/207600	OMIM:207600
NANDO:1200340	高IgE症候群	Hyper-IgE syndrome	MONDO:0018037	http://purl.obolibrary.org/obo/MONDO_0018037	http://www.w3.org/2004/02/skos/core#exactMatch	高IgE症候群	hyper-IgE syndrome	https://omim.org/phenotypicSeries/PS147060	OMIMPS:147060
NANDO:1200245	スティーヴンス・ジョンソン症候群	Stevens-Johnson syndrome	MONDO:0018229	http://purl.obolibrary.org/obo/MONDO_0018229	http://www.w3.org/2004/02/skos/core#exactMatch	スティーヴンス・ジョンソン症候群	Stevens-Johnson syndrome	https://omim.org/entry/608579	OMIM:608579
NANDO:1200357	慢性肉芽腫症	Chronic granulomatous disease	MONDO:0018305	http://purl.obolibrary.org/obo/MONDO_0018305	http://www.w3.org/2004/02/skos/core#exactMatch	慢性肉芽腫症	chronic granulomatous disease	https://omim.org/phenotypicSeries/PS306400	OMIMPS:306400
NANDO:1200353	重症先天性好中球減少症	Severe congenital neutropenia	MONDO:0018542	http://purl.obolibrary.org/obo/MONDO_0018542	http://www.w3.org/2004/02/skos/core#exactMatch	重症先天性好中球減少症	severe congenital neutropenia	https://omim.org/phenotypicSeries/PS202700	OMIMPS:202700
NANDO:1200388	ゴナドトロピン分泌低下症	Hypogonadotropic hypogonadism	MONDO:0018555	http://purl.obolibrary.org/obo/MONDO_0018555	http://www.w3.org/2004/02/skos/core#exactMatch	低ゴナドトロピン性性腺機能低下症	hypogonadotropic hypogonadism	https://omim.org/phenotypicSeries/PS147950	OMIMPS:147950
NANDO:1200226	神経線維腫症I型	Neurofibromatosis type 1	MONDO:0018975	http://purl.obolibrary.org/obo/MONDO_0018975	http://www.w3.org/2004/02/skos/core#exactMatch	神経線維腫症1型	neurofibromatosis type 1	https://omim.org/entry/162200	OMIM:162200
NANDO:1200381	中枢性思春期早発症	Central precocious puberty	MONDO:0019165	http://purl.obolibrary.org/obo/MONDO_0019165	http://www.w3.org/2004/02/skos/core#exactMatch	中枢性思春期早発症	central precocious puberty	https://omim.org/phenotypicSeries/PS176400	OMIMPS:176400
NANDO:1200431	網膜色素変性症	Retinitis pigmentosa	MONDO:0019200	http://purl.obolibrary.org/obo/MONDO_0019200	http://www.w3.org/2004/02/skos/core#exactMatch	網膜色素変性症	retinitis pigmentosa	https://omim.org/entry/268000	OMIM:268000
NANDO:1200431	網膜色素変性症	Retinitis pigmentosa	MONDO:0019200	http://purl.obolibrary.org/obo/MONDO_0019200	http://www.w3.org/2004/02/skos/core#exactMatch	網膜色素変性症	retinitis pigmentosa	https://omim.org/phenotypicSeries/PS268000	OMIMPS:268000
NANDO:1200499	ベッカー病	Becker disease	MONDO:0009715	http://purl.obolibrary.org/obo/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://omim.org/entry/255700	OMIM:255700
NANDO:1200553	先天性無痛無汗症	Congenital insensitivity to pain with anhidrosis	MONDO:0009746	http://purl.obolibrary.org/obo/MONDO_0009746	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性感覚・自律性神経性ニューロパチー4型	hereditary sensory and autonomic neuropathy type 4	https://omim.org/entry/256800	OMIM:256800
NANDO:1200599	PCDH19関連症候群	PCDH19-related syndrome	MONDO:0010246	http://purl.obolibrary.org/obo/MONDO_0010246	http://www.w3.org/2004/02/skos/core#exactMatch	発達性およびてんかん性脳症9	developmental and epileptic encephalopathy, 9	https://omim.org/entry/300088	OMIM:300088
NANDO:1200489	ベッカー型筋ジストロフィー	Becker muscular dystrophy	MONDO:0010311	http://purl.obolibrary.org/obo/MONDO_0010311	http://www.w3.org/2004/02/skos/core#exactMatch	ベッカー型筋ジストロフィー	Becker muscular dystrophy	https://omim.org/entry/300376	OMIM:300376
NANDO:1200580	アラン・ハーンドン・タドリー症候群	Allan-Herndon-Dudley syndrome	MONDO:0010354	http://purl.obolibrary.org/obo/MONDO_0010354	http://www.w3.org/2004/02/skos/core#exactMatch	アラン・ハーンドン・タドリー症候群	Allan-Herndon-Dudley syndrome	https://omim.org/entry/300523	OMIM:300523
NANDO:1200562	アイカルディ症候群	Aicardi syndrome	MONDO:0010568	http://purl.obolibrary.org/obo/MONDO_0010568	http://www.w3.org/2004/02/skos/core#exactMatch	アイカルディ症候群	Aicardi syndrome	https://omim.org/entry/304050	OMIM:304050
NANDO:1200488	デュシェンヌ型筋ジストロフィー	Duchenne muscular dystrophy	MONDO:0010679	http://purl.obolibrary.org/obo/MONDO_0010679	http://www.w3.org/2004/02/skos/core#exactMatch	デュシェンヌ型筋ジストロフィー	Duchenne muscular dystrophy	https://omim.org/entry/310200	OMIM:310200
NANDO:1200576	ペリツェウス・メルツバッハ病	Pelizaeus-Merzbacher disease	MONDO:0010714	http://purl.obolibrary.org/obo/MONDO_0010714	http://www.w3.org/2004/02/skos/core#exactMatch	ペリツェウス・メルツバッハ スペクトラム病	Pelizaeus-Merzbacher spectrum disorder	https://omim.org/entry/312080	OMIM:312080
NANDO:1200603	レット症候群	Rett syndrome	MONDO:0010726	http://purl.obolibrary.org/obo/MONDO_0010726	http://www.w3.org/2004/02/skos/core#exactMatch	レット症候群	Rett syndrome	https://omim.org/entry/312750	OMIM:312750
NANDO:1200514	DYT3ジストニア	Dystonia 3	MONDO:0010747	http://purl.obolibrary.org/obo/MONDO_0010747	http://www.w3.org/2004/02/skos/core#exactMatch	X連鎖性ジストニア-パーキンソン症候群	X-linked dystonia-parkinsonism	https://omim.org/entry/314250	OMIM:314250
NANDO:1200544	HTRA1関連脳小血管病	HTRA1-Related Cerebral Small Vessel Disease	MONDO:0010829	http://purl.obolibrary.org/obo/MONDO_0010829	http://www.w3.org/2004/02/skos/core#exactMatch	禿頭と変形性脊椎症を伴う常染色体劣性白質脳症	CARASIL syndrome	https://omim.org/entry/600142	OMIM:600142
NANDO:1200550	意味性認知症	Semantic dementia	MONDO:0010857	http://purl.obolibrary.org/obo/MONDO_0010857	http://www.w3.org/2004/02/skos/core#exactMatch	意味性認知症	semantic dementia	https://omim.org/entry/600274	OMIM:600274
NANDO:1200520	DYT9ジストニア	Dystonia 9	MONDO:0010983	http://purl.obolibrary.org/obo/MONDO_0010983	http://www.w3.org/2004/02/skos/core#exactMatch	ジストニア9	dystonia 9	https://omim.org/entry/601042	OMIM:601042
NANDO:1200526	小脳失調症深部反射消失凹足視神経萎縮感覚神経障害性聴覚障害	Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss	MONDO:0011038	http://purl.obolibrary.org/obo/MONDO_0011038	http://www.w3.org/2004/02/skos/core#exactMatch	小脳性運動失調-異常反射-凹足-視神経萎縮-感音難聴症候群	cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	https://omim.org/entry/601338	OMIM:601338
NANDO:1200579	18q欠失症候群	18q-syndrome	MONDO:0011147	http://purl.obolibrary.org/obo/MONDO_0011147	http://www.w3.org/2004/02/skos/core#exactMatch	18q欠失症候群	chromosome 18q deletion syndrome	https://omim.org/entry/601808	OMIM:601808
NANDO:1200518	DYT7ジストニア	Dystonia 7	MONDO:0011200	http://purl.obolibrary.org/obo/MONDO_0011200	http://www.w3.org/2004/02/skos/core#exactMatch	捻転ジストニア7	torsion dystonia 7	https://omim.org/entry/602124	OMIM:602124
NANDO:1200517	DYT6ジストニア	Dystonia 6 	MONDO:0011264	http://purl.obolibrary.org/obo/MONDO_0011264	http://www.w3.org/2004/02/skos/core#exactMatch	捻転ジストニア6	torsion dystonia 6	https://omim.org/entry/602629	OMIM:602629
NANDO:1200469	若年性特発性関節炎	Juvenile idiopathic arthritis	MONDO:0011429	http://purl.obolibrary.org/obo/MONDO_0011429	http://www.w3.org/2004/02/skos/core#exactMatch	若年性特発性関節炎	juvenile idiopathic arthritis	https://omim.org/entry/604302	OMIM:604302
NANDO:1200582	サラ病	Salla disease	MONDO:0011449	http://purl.obolibrary.org/obo/MONDO_0011449	http://www.w3.org/2004/02/skos/core#exactMatch	サラ病	Salla disease	https://omim.org/entry/604369	OMIM:604369
NANDO:1200468	慢性乳児神経皮膚関節症候群	Chronic infantile neurological cutaneous articular syndrome	MONDO:0011776	http://purl.obolibrary.org/obo/MONDO_0011776	http://www.w3.org/2004/02/skos/core#exactMatch	慢性乳児神経皮膚関節症候群	CINCA syndrome	https://omim.org/entry/607115	OMIM:607115
NANDO:1200528	DYT15ジストニア	Dystonia 15	MONDO:0011844	http://purl.obolibrary.org/obo/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://omim.org/entry/607488	OMIM:607488
NANDO:1200527	DYT13ジストニア	Dystonia 13	MONDO:0011886	http://purl.obolibrary.org/obo/MONDO_0011886	http://www.w3.org/2004/02/skos/core#exactMatch	捻転ジストニア13	torsion dystonia 13	https://omim.org/entry/607671	OMIM:607671
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://purl.obolibrary.org/obo/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://omim.org/entry/607694	OMIM:607694
NANDO:1200586	脱髄型末梢神経障害、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease	MONDO:0012198	http://purl.obolibrary.org/obo/MONDO_0012198	http://www.w3.org/2004/02/skos/core#exactMatch	PCWH症候群	PCWH syndrome	https://omim.org/entry/609136	OMIM:609136
NANDO:1200584	先天性白内障を伴う髄鞘形成不全症	Hypomyelination and congenital cataract	MONDO:0012514	http://purl.obolibrary.org/obo/MONDO_0012514	http://www.w3.org/2004/02/skos/core#exactMatch	ミエリン形成不全性白質ジストロフィー5	hypomyelinating leukodystrophy 5	https://omim.org/entry/610532	OMIM:610532
NANDO:1200532	DYT19ジストニア	Dystonia 19	MONDO:0012603	http://purl.obolibrary.org/obo/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://omim.org/entry/611031	OMIM:611031
NANDO:1200533	DYT20ジストニア	Dystonia 20	MONDO:0012629	http://purl.obolibrary.org/obo/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://omim.org/entry/611147	OMIM:611147
NANDO:1200529	DYT16ジストニア	Dystonia 16	MONDO:0012789	http://purl.obolibrary.org/obo/MONDO_0012789	http://www.w3.org/2004/02/skos/core#exactMatch	ジストニア16	dystonia 16	https://omim.org/entry/612067	OMIM:612067
NANDO:1200531	DYT18ジストニア	Dystonia 18	MONDO:0012805	http://purl.obolibrary.org/obo/MONDO_0012805	http://www.w3.org/2004/02/skos/core#exactMatch	小児期発症GLUT1欠損症候群2	childhood onset GLUT1 deficiency syndrome 2	https://omim.org/entry/612126	OMIM:612126
NANDO:1200581	HSP60シャペロン病	Mitochondrial Hsp60 chaperonopathy	MONDO:0012824	http://purl.obolibrary.org/obo/MONDO_0012824	http://www.w3.org/2004/02/skos/core#exactMatch	ミエリン形成不全性白質ジストロフィー4	hypomyelinating leukodystrophy 4	https://omim.org/entry/612233	OMIM:612233
NANDO:1200530	DYT17ジストニア	Dystonia 17	MONDO:0012895	http://purl.obolibrary.org/obo/MONDO_0012895	http://www.w3.org/2004/02/skos/core#exactMatch	捻転ジストニア17	torsion dystonia 17	https://omim.org/entry/612406	OMIM:612406
NANDO:1200578	基底核および小脳萎縮を伴う髄鞘形成不全症	Hypomyelination with atrophy of the basal ganglia and cerebellum	MONDO:0012905	http://purl.obolibrary.org/obo/MONDO_0012905	http://www.w3.org/2004/02/skos/core#exactMatch	ミエリン形成不全性白質ジストロフィー6	hypomyelinating leukodystrophy 6	https://omim.org/entry/612438	OMIM:612438
NANDO:1200540	脳内鉄沈着神経変性症4型	Neurodegeneration with brain iron accumulation type 4	MONDO:0013674	http://purl.obolibrary.org/obo/MONDO_0013674	http://www.w3.org/2004/02/skos/core#exactMatch	脳内鉄沈着神経変性症4	neurodegeneration with brain iron accumulation 4	https://omim.org/entry/614298	OMIM:614298
NANDO:1200462	CFC症候群	CFC Syndrome	MONDO:0015280	http://purl.obolibrary.org/obo/MONDO_0015280	http://www.w3.org/2004/02/skos/core#exactMatch	心顔面皮膚症候群	cardiofaciocutaneous syndrome	https://omim.org/phenotypicSeries/PS115150	OMIMPS:115150
NANDO:1200495	筋強直性ジストロフィー	Myotonic dystrophy	MONDO:0016107	http://purl.obolibrary.org/obo/MONDO_0016107	http://www.w3.org/2004/02/skos/core#exactMatch	筋強直性ジストロフィー	myotonic dystrophy	https://omim.org/phenotypicSeries/PS160900	OMIMPS:160900
NANDO:1200525	小児交互性片麻痺	Alternating hemiplegia of childhood	MONDO:0016241	http://purl.obolibrary.org/obo/MONDO_0016241	http://www.w3.org/2004/02/skos/core#exactMatch	小児交互性片麻痺	alternating hemiplegia of childhood	https://omim.org/phenotypicSeries/PS104290	OMIMPS:104290
NANDO:1200591	レノックス・ガストー症候群	Lennox-Gastaut syndrome	MONDO:0016532	http://purl.obolibrary.org/obo/MONDO_0016532	http://www.w3.org/2004/02/skos/core#exactMatch	レノックス・ガストー症候群	Lennox-Gastaut syndrome	https://omim.org/entry/606369	OMIM:606369
NANDO:1200492	エメリー・ドレイフス型筋ジストロフィー	Emery-Dreifuss muscular dystrophy	MONDO:0016830	http://purl.obolibrary.org/obo/MONDO_0016830	http://www.w3.org/2004/02/skos/core#exactMatch	エメリー・ドレイフス型筋ジストロフィー	Emery-Dreifuss muscular dystrophy	https://omim.org/phenotypicSeries/PS310300	OMIMPS:310300
NANDO:1200615	道化師様魚鱗癬以外の常染色体劣性遺伝性魚鱗癬	Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis	MONDO:0017265	http://purl.obolibrary.org/obo/MONDO_0017265	http://www.w3.org/2004/02/skos/core#exactMatch	常染色体潜性先天性魚鱗癬	autosomal recessive congenital ichthyosis	https://omim.org/phenotypicSeries/PS242300	OMIMPS:242300
NANDO:1200466	家族性寒冷蕁麻疹	Familial cold autoinflammatorysyndrome	MONDO:0018768	http://purl.obolibrary.org/obo/MONDO_0018768	http://www.w3.org/2004/02/skos/core#exactMatch	家族性寒冷自己炎症症候群	familial cold autoinflammatory syndrome	https://omim.org/phenotypicSeries/PS120100	OMIMPS:120100
NANDO:1200574	神経細胞移動異常症	Neuronal migration defects	MONDO:0018838	http://purl.obolibrary.org/obo/MONDO_0018838	http://www.w3.org/2004/02/skos/core#exactMatch	滑脳症スペクトラム障害	lissencephaly spectrum disorders	https://omim.org/phenotypicSeries/PS607432	OMIMPS:607432
NANDO:1200482	中心核ミオパチー	Centronuclear myopathy	MONDO:0018947	http://purl.obolibrary.org/obo/MONDO_0018947	http://www.w3.org/2004/02/skos/core#exactMatch	中心核ミオパチー	centronuclear myopathy	https://omim.org/phenotypicSeries/PS160150	OMIMPS:160150
NANDO:1200478	ネマリンミオパチー	Nemaline myopathy	MONDO:0018958	http://purl.obolibrary.org/obo/MONDO_0018958	http://www.w3.org/2004/02/skos/core#exactMatch	ネマリンミオパチー	nemaline myopathy	https://omim.org/phenotypicSeries/PS256030	OMIMPS:256030
NANDO:1200500	ナトリウムチャネルミオトニー	Sodium channel myotonia	MONDO:0018959	http://purl.obolibrary.org/obo/MONDO_0018959	http://www.w3.org/2004/02/skos/core#exactMatch	カリウム惹起性ミオトニー	potassium-aggravated myotonia	https://omim.org/entry/608390	OMIM:608390
NANDO:1200575	先天性大脳白質形成不全症	Congenital hypomyelinating leukodystrophy	MONDO:0019046	http://purl.obolibrary.org/obo/MONDO_0019046	http://www.w3.org/2004/02/skos/core#exactMatch	先天性大脳白質形成不全症	leukodystrophy	https://omim.org/phenotypicSeries/PS312080	OMIMPS:312080
NANDO:1200461	ルビンシュタイン・テイビ症候群	Rubinstein-Taybi syndrome	MONDO:0019188	http://purl.obolibrary.org/obo/MONDO_0019188	http://www.w3.org/2004/02/skos/core#exactMatch	ルビンシュタイン・テイビ症候群	Rubinstein-Taybi syndrome	https://omim.org/phenotypicSeries/PS180849	OMIMPS:180849
NANDO:1200752	肥満低換気症候群	Obesity hypoventilation syndrome	MONDO:0009763	http://purl.obolibrary.org/obo/MONDO_0009763	http://www.w3.org/2004/02/skos/core#exactMatch	肥満-低換気症候群	obesity-hypoventilation syndrome	https://omim.org/entry/257500	OMIM:257500
NANDO:1200773	原発性高シュウ酸尿症I型	Primary hyperoxaluria type 1	MONDO:0009823	http://purl.obolibrary.org/obo/MONDO_0009823	http://www.w3.org/2004/02/skos/core#exactMatch	原発性高シュウ酸尿症1型	primary hyperoxaluria type 1	https://omim.org/entry/259900	OMIM:259900
NANDO:1200766	D-二頭酵素欠損症	D-bifunctional protein deficiency	MONDO:0009855	http://purl.obolibrary.org/obo/MONDO_0009855	http://www.w3.org/2004/02/skos/core#exactMatch	d-二機能性タンパク欠乏症	d-bifunctional protein deficiency	https://omim.org/entry/261515	OMIM:261515
NANDO:1200784	フェニルケトン尿症	Phenylketonuria	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	http://www.w3.org/2004/02/skos/core#exactMatch	フェニルケトン尿症	phenylketonuria	https://omim.org/entry/261600	OMIM:261600
NANDO:1200765	アシル CoA オキシダーゼ欠損症 	Peroxisomal acyl-CoA oxidase deficiency	MONDO:0009919	http://purl.obolibrary.org/obo/MONDO_0009919	http://www.w3.org/2004/02/skos/core#exactMatch	アシルCoA オキシダーゼ欠損症	peroxisomal acyl-CoA oxidase deficiency	https://omim.org/entry/264470	OMIM:264470
NANDO:1200707	心室中隔欠損を伴わない肺動脈閉鎖症	Pulmonary atresia with intact ventricular septum	MONDO:0009931	http://purl.obolibrary.org/obo/MONDO_0009931	http://www.w3.org/2004/02/skos/core#exactMatch	肺動脈閉鎖症-心室中隔欠損を伴わない	pulmonary atresia-intact ventricular septum syndrome	https://omim.org/entry/265150	OMIM:265150
NANDO:1200769	レフサム病	Refsum disease	MONDO:0009958	http://purl.obolibrary.org/obo/MONDO_0009958	http://www.w3.org/2004/02/skos/core#exactMatch	成人レフサム病	adult Refsum disease	https://omim.org/entry/266500	OMIM:266500
NANDO:1200671	ロスムンド・トムソン症候群	Rothmund-Thomson syndrome	MONDO:0010002	http://purl.obolibrary.org/obo/MONDO_0010002	http://www.w3.org/2004/02/skos/core#exactMatch	ロスムンド・トムソン症候群	Rothmund-Thomson syndrome	https://omim.org/phenotypicSeries/PS268400	OMIMPS:268400
NANDO:1200620	シェーグレン・ラルソン症候群	Sjögren-Larsson syndrome	MONDO:0010031	http://purl.obolibrary.org/obo/MONDO_0010031	http://www.w3.org/2004/02/skos/core#exactMatch	シェーグレン・ラルソン症候群	Sjogren-Larsson syndrome	https://omim.org/entry/270200	OMIM:270200
NANDO:1200622	ドルフマン・シャナリン症候群	Dorfman-Chanarin syndrome	MONDO:0010155	http://purl.obolibrary.org/obo/MONDO_0010155	http://www.w3.org/2004/02/skos/core#exactMatch	ドルフマン・シャナリン症候群	Dorfman-Chanarin disease	https://omim.org/entry/275630	OMIM:275630
NANDO:1200789	高チロシン血症2型	Tyrosinemia type 2	MONDO:0010160	http://purl.obolibrary.org/obo/MONDO_0010160	http://www.w3.org/2004/02/skos/core#exactMatch	チロシン血症II型	tyrosinemia type II	https://omim.org/entry/276600	OMIM:276600
NANDO:1200788	高チロシン血症1型	Tyrosinemia type 1	MONDO:0010161	http://purl.obolibrary.org/obo/MONDO_0010161	http://www.w3.org/2004/02/skos/core#exactMatch	チロシン血症I型	tyrosinemia type I	https://omim.org/entry/276700	OMIM:276700
NANDO:1200790	高チロシン血症3型	Tyrosinemia type 3	MONDO:0010162	http://purl.obolibrary.org/obo/MONDO_0010162	http://www.w3.org/2004/02/skos/core#exactMatch	チロシン血症III型	tyrosinemia type III	https://omim.org/entry/276710	OMIM:276710
NANDO:1200797	コバラミン代謝異常 cblD	Methylmalonic acidemia CblD type	MONDO:0010185	http://purl.obolibrary.org/obo/MONDO_0010185	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸尿症およびホモシスチン尿症cblD型	methylmalonic aciduria and homocystinuria type cblD	https://omim.org/entry/277410	OMIM:277410
NANDO:1200659	ウィーバー症候群	Weaver syndrome	MONDO:0010193	http://purl.obolibrary.org/obo/MONDO_0010193	http://www.w3.org/2004/02/skos/core#exactMatch	ウィーバー症候群	Weaver syndrome	https://omim.org/entry/277590	OMIM:277590
NANDO:1200676	ウェルナー症候群	Werner syndrome	MONDO:0010196	http://purl.obolibrary.org/obo/MONDO_0010196	http://www.w3.org/2004/02/skos/core#exactMatch	ウェルナー症候群	Werner syndrome	https://omim.org/entry/277700	OMIM:277700
NANDO:1200655	ウィルソン病	Wilson disease	MONDO:0010200	http://purl.obolibrary.org/obo/MONDO_0010200	http://www.w3.org/2004/02/skos/core#exactMatch	ウィルソン病	Wilson disease	https://omim.org/entry/277900	OMIM:277900
NANDO:1200691	脆弱 X 随伴振戦/失調症候群	Fragile X tremor/ataxia syndrome	MONDO:0010382	http://purl.obolibrary.org/obo/MONDO_0010382	http://www.w3.org/2004/02/skos/core#exactMatch	脆弱X関連振戦運動失調症候群	fragile X-associated tremor/ataxia syndrome	https://omim.org/entry/300623	OMIM:300623
NANDO:1200692	脆弱X症候群	Fragile X syndrome	MONDO:0010383	http://purl.obolibrary.org/obo/MONDO_0010383	http://www.w3.org/2004/02/skos/core#exactMatch	脆弱X症候群	fragile X syndrome	https://omim.org/entry/300624	OMIM:300624
NANDO:1200665	ATR-X症候群	ATR-X syndrome	MONDO:0010519	http://purl.obolibrary.org/obo/MONDO_0010519	http://www.w3.org/2004/02/skos/core#exactMatch	アルファサラセミア-X連鎖性知的障害症候群	alpha thalassemia-X-linked intellectual disability syndrome	https://omim.org/entry/301040	OMIM:301040
NANDO:1200660	コフィン・ローリー症候群	Coffin-Lowry syndrome	MONDO:0010561	http://purl.obolibrary.org/obo/MONDO_0010561	http://www.w3.org/2004/02/skos/core#exactMatch	コフィン・ローリー症候群	Coffin-Lowry syndrome	https://omim.org/entry/303600	OMIM:303600
NANDO:1200654	オクシピタル・ホーン症候群	Occipital horn syndrome	MONDO:0010572	http://purl.obolibrary.org/obo/MONDO_0010572	http://www.w3.org/2004/02/skos/core#exactMatch	オクシピタル・ホーン症候群	occipital horn syndrome	https://omim.org/entry/304150	OMIM:304150
NANDO:1200625	X連鎖性劣性魚鱗癬症候群	Recessive X-linked ichtyosis	MONDO:0010622	http://purl.obolibrary.org/obo/MONDO_0010622	http://www.w3.org/2004/02/skos/core#exactMatch	X連鎖潜性魚鱗癬	recessive X-linked ichthyosis	https://omim.org/entry/308100	OMIM:308100
NANDO:1200653	メンケス病	Menkes disease	MONDO:0010651	http://purl.obolibrary.org/obo/MONDO_0010651	http://www.w3.org/2004/02/skos/core#exactMatch	メンケス病	Menkes disease	https://omim.org/entry/309400	OMIM:309400
NANDO:1200804	OTC欠損症	Ornithine transcarbamylase deficiency	MONDO:0010703	http://purl.obolibrary.org/obo/MONDO_0010703	http://www.w3.org/2004/02/skos/core#exactMatch	OTC欠損症	ornithine carbamoyltransferase deficiency	https://omim.org/entry/311250	OMIM:311250
NANDO:1200772	根性点状軟骨異形成症3型	Rhizomelic chondrodysplasia punctata type 3	MONDO:0010823	http://purl.obolibrary.org/obo/MONDO_0010823	http://www.w3.org/2004/02/skos/core#exactMatch	根性点状軟骨異形成症3型	rhizomelic chondrodysplasia punctata type 3	https://omim.org/entry/600121	OMIM:600121
NANDO:1200681	ヤング・シンプソン症候群	Young-Simpson syndrome	MONDO:0011365	http://purl.obolibrary.org/obo/MONDO_0011365	http://www.w3.org/2004/02/skos/core#exactMatch	瞼裂狭小-知的障害症候群, SBBYS型	blepharophimosis - intellectual disability syndrome, SBBYS type	https://omim.org/entry/603736	OMIM:603736
NANDO:1200706	三尖弁閉鎖症	Tricuspid atresia	MONDO:0011514	http://purl.obolibrary.org/obo/MONDO_0011514	http://www.w3.org/2004/02/skos/core#exactMatch	三尖弁閉鎖症	tricuspid atresia	https://omim.org/entry/605067	OMIM:605067
NANDO:1200792	プロピオン酸血症	Propionic acidemia	MONDO:0011628	http://purl.obolibrary.org/obo/MONDO_0011628	http://www.w3.org/2004/02/skos/core#exactMatch	プロピオン酸血症	propionic acidemia	https://omim.org/entry/606054	OMIM:606054
NANDO:1200682	1ｐ36欠失症候群	1p36 deletion syndrome	MONDO:0011929	http://purl.obolibrary.org/obo/MONDO_0011929	http://www.w3.org/2004/02/skos/core#exactMatch	１ｐ36欠失症候群	chromosome 1p36 deletion syndrome	https://omim.org/entry/607872	OMIM:607872
NANDO:1200685	第14番染色体父親性ダイソミー症候群	Paternal uniparental disomy of chromosome 14	MONDO:0011975	http://purl.obolibrary.org/obo/MONDO_0011975	http://www.w3.org/2004/02/skos/core#exactMatch	14番染色体父性片親性ダイソミー	paternal uniparental disomy of chromosome 14	https://omim.org/entry/608149	OMIM:608149
NANDO:1200689	エマヌエル症候群	Emanuel syndrome	MONDO:0012176	http://purl.obolibrary.org/obo/MONDO_0012176	http://www.w3.org/2004/02/skos/core#exactMatch	エマヌエル症候群	Emanuel syndrome	https://omim.org/entry/609029	OMIM:609029
NANDO:1200747	自己免疫性肺胞蛋白症	Autoimmune pulmonary alveolar proteinosis	MONDO:0012579	http://purl.obolibrary.org/obo/MONDO_0012579	http://www.w3.org/2004/02/skos/core#exactMatch	自己免疫性肺胞蛋白症	autoimmune pulmonary alveolar proteinosis	https://omim.org/entry/610910	OMIM:610910
NANDO:1200750	先天性肺胞蛋白症	Congenital alveolar proteinosis	MONDO:0012580	http://purl.obolibrary.org/obo/MONDO_0012580	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性肺胞蛋白症	hereditary pulmonary alveolar proteinosis	https://omim.org/phenotypicSeries/PS265120	OMIMPS:265120
NANDO:1200755	α1-アンチトリプシン欠損症	Alpha-1-antitrypsin deficiency	MONDO:0013282	http://purl.obolibrary.org/obo/MONDO_0013282	http://www.w3.org/2004/02/skos/core#exactMatch	α1-アンチトリプシン欠損症	alpha 1-antitrypsin deficiency	https://omim.org/entry/613490	OMIM:613490
NANDO:1200767	ステロールキャリアプロテインX欠損症	Sterol carrier protein 2 deficiency	MONDO:0013391	http://purl.obolibrary.org/obo/MONDO_0013391	http://www.w3.org/2004/02/skos/core#exactMatch	ステロールキャリアプロテイン2欠乏症	sterol carrier protein 2 deficiency	https://omim.org/entry/613724	OMIM:613724
NANDO:1200774	アカタラセミア	Acatalasemia	MONDO:0013571	http://purl.obolibrary.org/obo/MONDO_0013571	http://www.w3.org/2004/02/skos/core#exactMatch	アカタラセミア	acatalasia	https://omim.org/entry/614097	OMIM:614097
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://purl.obolibrary.org/obo/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://omim.org/entry/614307	OMIM:614307
NANDO:1200726	一次性膜性増殖性糸球体腎炎I型	Primary membranoproliferative glomerulonephritis type I	MONDO:0014005	http://purl.obolibrary.org/obo/MONDO_0014005	http://www.w3.org/2004/02/skos/core#exactMatch	免疫グロブリン介在膜性増殖性糸球体腎炎	immunoglobulin-mediated membranoproliferative glomerulonephritis	https://omim.org/entry/615008	OMIM:615008
NANDO:1200670	コフィン・シリス症候群	Coffin-Siris syndrome	MONDO:0015452	http://purl.obolibrary.org/obo/MONDO_0015452	http://www.w3.org/2004/02/skos/core#exactMatch	コフィン・シリス症候群	Coffin-Siris syndrome	https://omim.org/phenotypicSeries/PS135900	OMIMPS:135900
NANDO:1200672	歌舞伎症候群	Kabuki syndrome	MONDO:0016512	http://purl.obolibrary.org/obo/MONDO_0016512	http://www.w3.org/2004/02/skos/core#exactMatch	歌舞伎症候群	Kabuki syndrome	https://omim.org/phenotypicSeries/PS147920	OMIMPS:147920
NANDO:1200642	肥厚性皮膚骨膜症	Pachydermoperiostosis	MONDO:0016620	http://purl.obolibrary.org/obo/MONDO_0016620	http://www.w3.org/2004/02/skos/core#exactMatch	原発性肥大性骨関節症	primary hypertrophic osteoarthropathy	https://omim.org/phenotypicSeries/PS259100	OMIMPS:259100
NANDO:1200627	硫黄欠乏性毛髪発育異常症	Trichothiodystrophy	MONDO:0018053	http://purl.obolibrary.org/obo/MONDO_0018053	http://www.w3.org/2004/02/skos/core#exactMatch	硫黄欠乏性毛髪発育異常症	trichothiodystrophy	https://omim.org/phenotypicSeries/PS601675	OMIMPS:601675
NANDO:1200640	グリセリ症候群	Griscelli syndrome	MONDO:0018306	http://purl.obolibrary.org/obo/MONDO_0018306	http://www.w3.org/2004/02/skos/core#exactMatch	グリセリ症候群	Griscelli syndrome	https://omim.org/phenotypicSeries/PS214450	OMIMPS:214450
NANDO:1200621	KID症候群	Keratitis-ichthyosis-deafness syndrome	MONDO:0018781	http://purl.obolibrary.org/obo/MONDO_0018781	http://www.w3.org/2004/02/skos/core#exactMatch	KID症候群	KID syndrome	https://omim.org/phenotypicSeries/PS148210	OMIMPS:148210
NANDO:1200637	眼皮膚白皮症	Oculocutaneous albinism	MONDO:0018910	http://purl.obolibrary.org/obo/MONDO_0018910	http://www.w3.org/2004/02/skos/core#exactMatch	眼皮膚白皮症	oculocutaneous albinism	https://omim.org/phenotypicSeries/PS203100	OMIMPS:203100
NANDO:1200712	アルポート症候群	Alport's syndrome	MONDO:0018965	http://purl.obolibrary.org/obo/MONDO_0018965	http://www.w3.org/2004/02/skos/core#exactMatch	アルポート症候群	Alport syndrome	https://omim.org/phenotypicSeries/PS301050	OMIMPS:301050
NANDO:1200680	ヌーナン症候群	Noonan syndrome	MONDO:0018997	http://purl.obolibrary.org/obo/MONDO_0018997	http://www.w3.org/2004/02/skos/core#exactMatch	ヌーナン症候群	Noonan syndrome	https://omim.org/phenotypicSeries/PS163950	OMIMPS:163950
NANDO:1200744	オスラー病	Osler disease	MONDO:0019180	http://purl.obolibrary.org/obo/MONDO_0019180	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性出血性毛細血管拡張症	hereditary hemorrhagic telangiectasia	https://omim.org/phenotypicSeries/PS187300	OMIMPS:187300
NANDO:1200759	ペルオキシソーム形成異常症	Peroxisome biogenesis disorders	MONDO:0019234	http://purl.obolibrary.org/obo/MONDO_0019234	http://www.w3.org/2004/02/skos/core#exactMatch	ペルオキシソーム形成異常症	peroxisome biogenesis disorder	https://omim.org/phenotypicSeries/PS214100	OMIMPS:214100
NANDO:1200638	ヘルマンスキー・パドラック症候群	Hermansky-Pudlak syndrome	MONDO:0019312	http://purl.obolibrary.org/obo/MONDO_0019312	http://www.w3.org/2004/02/skos/core#exactMatch	ヘルマンスキー・パドラック症候群	Hermansky-Pudlak syndrome	https://omim.org/phenotypicSeries/PS203300	OMIMPS:203300
NANDO:1200679	ソトス症候群	Sotos syndrome	MONDO:0019349	http://purl.obolibrary.org/obo/MONDO_0019349	http://www.w3.org/2004/02/skos/core#exactMatch	ソトス症候群	Sotos syndrome	https://omim.org/entry/117550	OMIM:117550
NANDO:1200970	カルニチンパルミトイルトランスフェラーゼI欠損症	Carnitine palmitoyltransferase I deficiency	MONDO:0009705	http://purl.obolibrary.org/obo/MONDO_0009705	http://www.w3.org/2004/02/skos/core#exactMatch	カルニチンパルミトイルトランスフェラーゼ1A欠損症	carnitine palmitoyl transferase 1A deficiency	https://omim.org/entry/255120	OMIM:255120
NANDO:1200867	中條・西村症候群	Nakajo-Nishimura syndrome	MONDO:0009726	http://purl.obolibrary.org/obo/MONDO_0009726	http://www.w3.org/2004/02/skos/core#exactMatch	プロテアソーム関連自己炎症症候群	proteosome-associated autoinflammatory syndrome	https://omim.org/phenotypicSeries/PS256040	OMIMPS:256040
NANDO:1200992	メチルグルタコン酸尿症III型	3-methylglutaconic aciduria type III	MONDO:0009787	http://purl.obolibrary.org/obo/MONDO_0009787	http://www.w3.org/2004/02/skos/core#exactMatch	3-メチルグルタコン酸尿症3型	3-methylglutaconic aciduria type 3	https://omim.org/entry/258501	OMIM:258501
NANDO:1200869	慢性再発性多発性骨髄炎	Chronic recurrent multifocal osteomyelitis	MONDO:0009813	http://purl.obolibrary.org/obo/MONDO_0009813	http://www.w3.org/2004/02/skos/core#exactMatch	慢性再発性多発性骨髄炎	chronic recurrent multifocal osteomyelitis	https://omim.org/phenotypicSeries/PS609628	OMIMPS:609628
NANDO:1200832	筋型糖原病X型	Glycogen storage diseases type X	MONDO:0009865	http://purl.obolibrary.org/obo/MONDO_0009865	http://www.w3.org/2004/02/skos/core#exactMatch	ホスホグリセリン酸ムターゼ欠損による糖原病	glycogen storage disease due to phosphoglycerate mutase deficiency	https://omim.org/entry/261670	OMIM:261670
NANDO:1200848	肝型糖原病IXb型	Hepatic glycogen storage disease type IXb	MONDO:0009868	http://purl.obolibrary.org/obo/MONDO_0009868	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病IXb	glycogen storage disease IXb	https://omim.org/entry/261750	OMIM:261750
NANDO:1200817	先天性骨髄性ポルフィリン症	Congenital erythropoietic porphyria	MONDO:0009902	http://purl.obolibrary.org/obo/MONDO_0009902	http://www.w3.org/2004/02/skos/core#exactMatch	皮膚ポルフィリン症	cutaneous porphyria	https://omim.org/entry/263700	OMIM:263700
NANDO:1200961	スミス・レムリ・オピッツ症候群	Smith-lemli-opitz syndrome	MONDO:0010035	http://purl.obolibrary.org/obo/MONDO_0010035	http://www.w3.org/2004/02/skos/core#exactMatch	スミス・レムリ・オピッツ症候群	Smith-Lemli-Opitz syndrome	https://omim.org/entry/270400	OMIM:270400
NANDO:1200948	カナバン病	Canavan disease	MONDO:0010079	http://purl.obolibrary.org/obo/MONDO_0010079	http://www.w3.org/2004/02/skos/core#exactMatch	カドミウム中毒	Canavan disease	https://omim.org/entry/271900	OMIM:271900
NANDO:1201040	ホモシスチン尿症II型	Homocystinuria type 2	MONDO:0010184	http://purl.obolibrary.org/obo/MONDO_0010184	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸尿症およびホモシスチン尿症cblC型	methylmalonic aciduria and homocystinuria type cblC	https://omim.org/entry/277400	OMIM:277400
NANDO:1201035	クレアチントランスポーター欠損症	Creatine transporter deficiency	MONDO:0010305	http://purl.obolibrary.org/obo/MONDO_0010305	http://www.w3.org/2004/02/skos/core#exactMatch	クレアチントランスポーター欠損症	creatine transporter deficiency	https://omim.org/entry/300352	OMIM:300352
NANDO:1200830	筋型糖原病IXd型	Glycogen storage diseases type IXd	MONDO:0010362	http://purl.obolibrary.org/obo/MONDO_0010362	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病IXd	glycogen storage disease IXd	https://omim.org/entry/300559	OMIM:300559
NANDO:1200831	ホスホグリセリン酸キナーゼ欠損症	Phosphoglycerate kinase deficiency	MONDO:0010392	http://purl.obolibrary.org/obo/MONDO_0010392	http://www.w3.org/2004/02/skos/core#exactMatch	ホスホグリセリン酸キナーゼ欠損による糖原病	glycogen storage disease due to phosphoglycerate kinase 1 deficiency	https://omim.org/entry/300653	OMIM:300653
NANDO:1200818	X連鎖優性プロトポルフィリン症	X-linked dominant protoporphyria	MONDO:0010420	http://purl.obolibrary.org/obo/MONDO_0010420	http://www.w3.org/2004/02/skos/core#exactMatch	X連鎖骨髄性プロトポルフィリン症	X-linked erythropoietic protoporphyria	https://omim.org/entry/300752	OMIM:300752
NANDO:1200991	メチルグルタコン酸尿症II型	3-methylglutaconicaciduria type II	MONDO:0010543	http://purl.obolibrary.org/obo/MONDO_0010543	http://www.w3.org/2004/02/skos/core#exactMatch	バース症候群	Barth syndrome	https://omim.org/entry/302060	OMIM:302060
NANDO:1200847	肝型糖原病IXa型	Hepatic glycogen storage disease type IXa	MONDO:0010598	http://purl.obolibrary.org/obo/MONDO_0010598	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病IXa1	glycogen storage disease IXa1	https://omim.org/entry/306000	OMIM:306000
NANDO:1200938	X連鎖性若年網膜分離症	X-linked juvenile retinoschisis	MONDO:0010725	http://purl.obolibrary.org/obo/MONDO_0010725	http://www.w3.org/2004/02/skos/core#exactMatch	X連鎖性網膜分離症	X-linked retinoschisis	https://omim.org/entry/312700	OMIM:312700
NANDO:1200940	レーベル遺伝性視神経症	Leber hereditary optic neuropathy	MONDO:0010788	http://purl.obolibrary.org/obo/MONDO_0010788	http://www.w3.org/2004/02/skos/core#exactMatch	レーベル遺伝性視神経症	Leber hereditary optic neuropathy	https://omim.org/entry/535000	OMIM:535000
NANDO:1201044	進行性家族性肝内胆汁うっ滞症2型	Progressive familial intrahepatic cholestasis type 2	MONDO:0011156	http://purl.obolibrary.org/obo/MONDO_0011156	http://www.w3.org/2004/02/skos/core#exactMatch	進行性家族性肝内胆汁うっ滞2型	progressive familial intrahepatic cholestasis type 2	https://omim.org/entry/601847	OMIM:601847
NANDO:1201045	進行性家族性肝内胆汁うっ滞症3型	Progressive familial intrahepatic cholestasis type 3	MONDO:0011214	http://purl.obolibrary.org/obo/MONDO_0011214	http://www.w3.org/2004/02/skos/core#exactMatch	進行性家族性肝内胆汁うっ滞3型	progressive familial intrahepatic cholestasis type 3	https://omim.org/entry/602347	OMIM:602347
NANDO:1201003	先天性気管狭窄症	Congenital tracheal stenosis	MONDO:0011340	http://purl.obolibrary.org/obo/MONDO_0011340	http://www.w3.org/2004/02/skos/core#exactMatch	先天性気管狭窄症	congenital tracheal stenosis	https://omim.org/entry/603569	OMIM:603569
NANDO:1200868	化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群	Pyogenic arthritis, pyoderma gangrenosum, acne syndrome	MONDO:0011462	http://purl.obolibrary.org/obo/MONDO_0011462	http://www.w3.org/2004/02/skos/core#exactMatch	化膿性関節炎-壊疽性膿皮症-ざ瘡症候群	pyogenic arthritis-pyoderma gangrenosum-acne syndrome	https://omim.org/entry/604416	OMIM:604416
NANDO:1200979	新生児肝内胆汁うっ滞症	Neonatal intrahepatic cholestasis caused by citrin deficiency	MONDO:0011601	http://purl.obolibrary.org/obo/MONDO_0011601	http://www.w3.org/2004/02/skos/core#exactMatch	シトリン欠損による新生児肝内胆汁うっ滞	neonatal intrahepatic cholestasis due to citrin deficiency	https://omim.org/entry/605814	OMIM:605814
NANDO:1200984	非ケトーシス型高グリシン血症	Nonketotic hyperglycinemia	MONDO:0011612	http://purl.obolibrary.org/obo/MONDO_0011612	http://www.w3.org/2004/02/skos/core#exactMatch	グリシン脳症	glycine encephalopathy	https://omim.org/phenotypicSeries/PS605899	OMIMPS:605899
NANDO:1200988	芳香族L－アミノ酸脱炭酸酵素欠損症	Aromatic L-amino acid decarboxylase deficiency	MONDO:0012084	http://purl.obolibrary.org/obo/MONDO_0012084	http://www.w3.org/2004/02/skos/core#exactMatch	芳香族L-アミノ酸脱炭酸酵素欠損症	aromatic L-amino acid decarboxylase deficiency	https://omim.org/entry/608643	OMIM:608643
NANDO:1200974	三頭酵素欠損症	Trifunctional protein deficiency	MONDO:0012172	http://purl.obolibrary.org/obo/MONDO_0012172	http://www.w3.org/2004/02/skos/core#exactMatch	ミトコンドリア三機能タンパク欠乏症	mitochondrial trifunctional protein deficiency	https://omim.org/phenotypicSeries/PS609015	OMIMPS:609015
NANDO:1200959	9q34欠失症候群	9q34 deletion syndrome	MONDO:0012455	http://purl.obolibrary.org/obo/MONDO_0012455	http://www.w3.org/2004/02/skos/core#exactMatch	Kleefstra症候群	Kleefstra syndrome	https://omim.org/phenotypicSeries/PS610253	OMIMPS:610253
NANDO:1200983	先天性グリコシルホスファチジルイノシトール欠損症	Inherited glycosylphosphatidylinositol deficiency	MONDO:0012465	http://purl.obolibrary.org/obo/MONDO_0012465	http://www.w3.org/2004/02/skos/core#exactMatch	グリコシルホスファチジルイノシトール欠損による凝固能亢進症候群	hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	https://omim.org/entry/610293	OMIM:610293
NANDO:1200834	筋型糖原病XII型	Glycogen storage diseases type XII	MONDO:0012747	http://purl.obolibrary.org/obo/MONDO_0012747	http://www.w3.org/2004/02/skos/core#exactMatch	アルドラーゼA欠損による糖原病	glycogen storage disease due to aldolase A deficiency	https://omim.org/entry/611881	OMIM:611881
NANDO:1200982	セピアプテリン還元酵素欠損症	Sepiapterin reductase deficiency	MONDO:0012994	http://purl.obolibrary.org/obo/MONDO_0012994	http://www.w3.org/2004/02/skos/core#exactMatch	セピアプテリン還元酵素欠損によるドーパ反応性ジストニア	dopa-responsive dystonia due to sepiapterin reductase deficiency	https://omim.org/entry/612716	OMIM:612716
NANDO:1201033	アルギニン・グリシンアミジノ基転移酵素欠損症	Arginine:glycine amidinotransferase deficiency	MONDO:0012996	http://purl.obolibrary.org/obo/MONDO_0012996	http://www.w3.org/2004/02/skos/core#exactMatch	AGAT欠損症	AGAT deficiency	https://omim.org/entry/612718	OMIM:612718
NANDO:1201034	グアニジノ酢酸メチル基転位酵素欠損症	Guanidinoacetate methyltransferase deficiency	MONDO:0012999	http://purl.obolibrary.org/obo/MONDO_0012999	http://www.w3.org/2004/02/skos/core#exactMatch	グアニジノ酢酸メチルトランスフェラーゼ欠損症	guanidinoacetate methyltransferase deficiency	https://omim.org/entry/612736	OMIM:612736
NANDO:1200835	筋型糖原病XIII型	Glycogen storage diseases type XIII	MONDO:0013046	http://purl.obolibrary.org/obo/MONDO_0013046	http://www.w3.org/2004/02/skos/core#exactMatch	筋βエノラーゼ欠損による糖原病	glycogen storage disease due to muscle beta-enolase deficiency	https://omim.org/entry/612932	OMIM:612932
NANDO:1200833	筋型糖原病XI型	Glycogen storage diseases type XI	MONDO:0013047	http://purl.obolibrary.org/obo/MONDO_0013047	http://www.w3.org/2004/02/skos/core#exactMatch	乳酸脱水素酵素Mサブユニット欠損による糖原病	glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	https://omim.org/entry/612933	OMIM:612933
NANDO:1200849	肝型糖原病IXc型	Hepatic glycogen storage disease type IXc	MONDO:0013091	http://purl.obolibrary.org/obo/MONDO_0013091	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病IXc	glycogen storage disease IXc	https://omim.org/entry/613027	OMIM:613027
NANDO:1200837	筋型糖原病XV型	Glycogen storage diseases type XV	MONDO:0013291	http://purl.obolibrary.org/obo/MONDO_0013291	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病XV	glycogen storage disease XV	https://omim.org/entry/613507	OMIM:613507
NANDO:1200934	オカルト黄斑ジストロフィー	Occult macular dystrophy	MONDO:0013316	http://purl.obolibrary.org/obo/MONDO_0013316	http://www.w3.org/2004/02/skos/core#exactMatch	オカルト黄斑ジストロフィー	occult macular dystrophy	https://omim.org/entry/613587	OMIM:613587
NANDO:1200836	筋型糖原病XIV型	Glycogen storage diseases type XIV	MONDO:0013968	http://purl.obolibrary.org/obo/MONDO_0013968	http://www.w3.org/2004/02/skos/core#exactMatch	PGM1-先天性グリコシル化異常症	PGM1-congenital disorder of glycosylation	https://omim.org/entry/614921	OMIM:614921
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://purl.obolibrary.org/obo/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://omim.org/entry/615558	OMIM:615558
NANDO:1200995	ADA2欠損症	Adenosine deaminase 2 deficiency	MONDO:0014306	http://purl.obolibrary.org/obo/MONDO_0014306	http://www.w3.org/2004/02/skos/core#exactMatch	アデノシンデアミナーゼ2欠損症	deficiency of adenosine deaminase 2	https://omim.org/entry/615688	OMIM:615688
NANDO:1201046	進行性家族性肝内胆汁うっ滞症4型	Progressive familial intrahepatic cholestasis type 4	MONDO:0014381	http://purl.obolibrary.org/obo/MONDO_0014381	http://www.w3.org/2004/02/skos/core#exactMatch	胆汁うっ滞, 進行性家族性肝内, 4	cholestasis, progressive familial intrahepatic, 4	https://omim.org/entry/615878	OMIM:615878
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://purl.obolibrary.org/obo/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://omim.org/entry/615889	OMIM:615889
NANDO:1200994	NLRC4異常症	NLRC4 mutation	MONDO:0014472	http://purl.obolibrary.org/obo/MONDO_0014472	http://www.w3.org/2004/02/skos/core#exactMatch	周期熱-乳児腸炎-自己炎症症候群	periodic fever-infantile enterocolitis-autoinflammatory syndrome	https://omim.org/entry/616050	OMIM:616050
NANDO:1200890	ダイアモンド・ブラックファン貧血	Diamond-Blackfan anemia	MONDO:0015253	http://purl.obolibrary.org/obo/MONDO_0015253	http://www.w3.org/2004/02/skos/core#exactMatch	ダイアモンド・ブラックファン貧血	Diamond-Blackfan anemia	https://omim.org/phenotypicSeries/PS105650	OMIMPS:105650
NANDO:1201042	進行性家族性肝内胆汁うっ滞症	Progressive familial intrahepatic cholestasis	MONDO:0015762	http://purl.obolibrary.org/obo/MONDO_0015762	http://www.w3.org/2004/02/skos/core#exactMatch	進行性家族性肝内胆汁うっ滞	progressive familial intrahepatic cholestasis	https://omim.org/phenotypicSeries/PS211600	OMIMPS:211600
NANDO:1200937	錐体杆体ジストロフィー	Cone-rod dystrophy	MONDO:0015993	http://purl.obolibrary.org/obo/MONDO_0015993	http://www.w3.org/2004/02/skos/core#exactMatch	錐体-杆体ジストロフィー	cone-rod dystrophy	https://omim.org/phenotypicSeries/PS120970	OMIMPS:120970
NANDO:1200960	コルネリア・デランゲ症候群	Cornelia de lange syndrome	MONDO:0016033	http://purl.obolibrary.org/obo/MONDO_0016033	http://www.w3.org/2004/02/skos/core#exactMatch	コルネリアデランゲ症候群	Cornelia de Lange syndrome	https://omim.org/phenotypicSeries/PS122470	OMIMPS:122470
NANDO:1200989	メチルグルタコン酸尿症	Methylglutaconic aciduria	MONDO:0017359	http://purl.obolibrary.org/obo/MONDO_0017359	http://www.w3.org/2004/02/skos/core#exactMatch	3-メチルグルタコン酸尿症	3-methylglutaconic aciduria	https://omim.org/phenotypicSeries/PS250950	OMIMPS:250950
NANDO:1200903	ヒルシュスプルング病	Hirschsprung disease	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	http://www.w3.org/2004/02/skos/core#exactMatch	ヒルシュスプルング病	Hirschsprung disease	https://omim.org/phenotypicSeries/PS142623	OMIMPS:142623
NANDO:1200996	エカルディ・グティエール症候群	Aicardi-Goutières Syndrome	MONDO:0018866	http://purl.obolibrary.org/obo/MONDO_0018866	http://www.w3.org/2004/02/skos/core#exactMatch	アイカルディ・ゴーティエ症候群	Aicardi-Goutieres syndrome	https://omim.org/phenotypicSeries/PS225750	OMIMPS:225750
NANDO:1201036	ネフロン癆	Nephronophthisis	MONDO:0019005	http://purl.obolibrary.org/obo/MONDO_0019005	http://www.w3.org/2004/02/skos/core#exactMatch	ネフロン癆	nephronophthisis	https://omim.org/phenotypicSeries/PS256100	OMIMPS:256100
NANDO:1200873	骨形成不全症	Osteogenesis imperfecta	MONDO:0019019	http://purl.obolibrary.org/obo/MONDO_0019019	http://www.w3.org/2004/02/skos/core#exactMatch	骨形成不全症	osteogenesis imperfecta	https://omim.org/phenotypicSeries/PS166200	OMIMPS:166200
NANDO:1200933	Stargardt病	Stargardt disease	MONDO:0019353	http://purl.obolibrary.org/obo/MONDO_0019353	http://www.w3.org/2004/02/skos/core#exactMatch	Stargardt病	Stargardt disease	https://omim.org/phenotypicSeries/PS248200	OMIMPS:248200
NANDO:1200891	ファンコニ貧血	Fanconi anemia	MONDO:0019391	http://purl.obolibrary.org/obo/MONDO_0019391	http://www.w3.org/2004/02/skos/core#exactMatch	ファンコーニ貧血	Fanconi anemia	https://omim.org/phenotypicSeries/PS227650	OMIMPS:227650
NANDO:1200885	先天性赤血球形成異常性貧血	Congenital dyserythropoietic anemia	MONDO:0019403	http://purl.obolibrary.org/obo/MONDO_0019403	http://www.w3.org/2004/02/skos/core#exactMatch	先天性赤血球形成異常性貧血	congenital dyserythropoietic anemia	https://omim.org/phenotypicSeries/PS224120	OMIMPS:224120
NANDO:2200110	フィンランド型先天性ネフローゼ症候群	Congenital nephrotic syndrome of the Finnish type	MONDO:0009732	http://purl.obolibrary.org/obo/MONDO_0009732	http://www.w3.org/2004/02/skos/core#exactMatch	先天性ネフローゼ症候群, フィンランド型	congenital nephrotic syndrome, Finnish type	https://omim.org/entry/256300	OMIM:256300
NANDO:2200093	脈絡叢乳頭腫	Choroid plexus papilloma	MONDO:0009837	http://purl.obolibrary.org/obo/MONDO_0009837	http://www.w3.org/2004/02/skos/core#exactMatch	脈絡叢乳頭腫	choroid plexus papilloma	https://omim.org/entry/260500	OMIM:260500
NANDO:2200145	ギッテルマン症候群	Gitelman syndrome	MONDO:0009904	http://purl.obolibrary.org/obo/MONDO_0009904	http://www.w3.org/2004/02/skos/core#exactMatch	ギテルマン症候群	Gitelman syndrome	https://omim.org/entry/263800	OMIM:263800
NANDO:2200202	肺胞微石症	Pulmonary alveolar microlithiasis	MONDO:0009928	http://purl.obolibrary.org/obo/MONDO_0009928	http://www.w3.org/2004/02/skos/core#exactMatch	肺胞微石症	pulmonary alveolar microlithiasis	https://omim.org/entry/265100	OMIM:265100
NANDO:1201058	ラパデリノ症候群	RAPADILINO syndrome	MONDO:0009955	http://purl.obolibrary.org/obo/MONDO_0009955	http://www.w3.org/2004/02/skos/core#exactMatch	ラパデリノ症候群	rapadilino syndrome	https://omim.org/entry/266280	OMIM:266280
NANDO:1201073	裂脳症	Schizencephaly	MONDO:0010011	http://purl.obolibrary.org/obo/MONDO_0010011	http://www.w3.org/2004/02/skos/core#exactMatch	裂脳症	schizencephaly	https://omim.org/entry/269160	OMIM:269160
NANDO:2200061	滑膜肉腫	Synovial sarcoma	MONDO:0010434	http://purl.obolibrary.org/obo/MONDO_0010434	http://www.w3.org/2004/02/skos/core#exactMatch	滑膜肉腫	synovial sarcoma	https://omim.org/entry/300813	OMIM:300813
NANDO:2200188	ロウ症候群	Lowe syndrome	MONDO:0010645	http://purl.obolibrary.org/obo/MONDO_0010645	http://www.w3.org/2004/02/skos/core#exactMatch	眼腎脳症候群	oculocerebrorenal syndrome	https://omim.org/entry/309000	OMIM:309000
NANDO:1201064	カーンズ・セイヤー症候群	Kearns-Sayre syndrome	MONDO:0010787	http://purl.obolibrary.org/obo/MONDO_0010787	http://www.w3.org/2004/02/skos/core#exactMatch	カーンズ・セイヤー症候群	Kearns-Sayre syndrome	https://omim.org/entry/530000	OMIM:530000
NANDO:1201093	ビタミンD依存症 1B型	Vitamin D-dependent rickets, type 1B	MONDO:0010810	http://purl.obolibrary.org/obo/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://omim.org/entry/600081	OMIM:600081
NANDO:2200197	気管支喘息	Bronchial asthma	MONDO:0010940	http://purl.obolibrary.org/obo/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://omim.org/entry/600807	OMIM:600807
NANDO:2200080	胸膜肺芽腫	Pleuropulmonaryblastoma	MONDO:0011014	http://purl.obolibrary.org/obo/MONDO_0011014	http://www.w3.org/2004/02/skos/core#exactMatch	胸膜肺芽腫	pleuropulmonary blastoma	https://omim.org/entry/601200	OMIM:601200
NANDO:1201056	終板アセチルコリンエステラーゼ欠損症	End-plate acetylcholine esterase deficiency	MONDO:0011281	http://purl.obolibrary.org/obo/MONDO_0011281	http://www.w3.org/2004/02/skos/core#exactMatch	先天性筋無力症候群5	congenital myasthenic syndrome 5	https://omim.org/entry/603034	OMIM:603034
NANDO:1201076	偽性副甲状腺機能低下症Ib型	Pseudohypoparathyroidism type 1B	MONDO:0011301	http://purl.obolibrary.org/obo/MONDO_0011301	http://www.w3.org/2004/02/skos/core#exactMatch	偽性副甲状腺機能低下症1B型	pseudohypoparathyroidism type 1B	https://omim.org/entry/603233	OMIM:603233
NANDO:2200063	胞巣状軟部肉腫	Alveolar soft part sarcoma	MONDO:0011655	http://purl.obolibrary.org/obo/MONDO_0011655	http://www.w3.org/2004/02/skos/core#exactMatch	胞巣状軟部肉腫	alveolar soft part sarcoma	https://omim.org/entry/606243	OMIM:606243
NANDO:1201103	短指を伴う家族性指関節症	Familial digital arthropathy with brachydactyly	MONDO:0011732	http://purl.obolibrary.org/obo/MONDO_0011732	http://www.w3.org/2004/02/skos/core#exactMatch	家族性指趾関節症-短指症	familial digital arthropathy-brachydactyly	https://omim.org/entry/606835	OMIM:606835
NANDO:2200015	若年性骨髄単球性白血病	Juvenile myelomonocytic leukemia	MONDO:0011908	http://purl.obolibrary.org/obo/MONDO_0011908	http://www.w3.org/2004/02/skos/core#exactMatch	若年性骨髄単球性白血病	juvenile myelomonocytic leukemia	https://omim.org/entry/607785	OMIM:607785
NANDO:2200013	慢性骨髄性白血病	Chronic myeloid leukemia	MONDO:0011996	http://purl.obolibrary.org/obo/MONDO_0011996	http://www.w3.org/2004/02/skos/core#exactMatch	慢性骨髄性白血病, BCR-ABL1陽性	chronic myeloid leukemia	https://omim.org/entry/608232	OMIM:608232
NANDO:2200117	Pierson症候群	Pierson syndrome	MONDO:0012184	http://purl.obolibrary.org/obo/MONDO_0012184	http://www.w3.org/2004/02/skos/core#exactMatch	Pierson症候群	Pierson syndrome	https://omim.org/entry/609049	OMIM:609049
NANDO:2200200	先天性肺胞蛋白症	Congenital alveolar proteinosis	MONDO:0012580	http://purl.obolibrary.org/obo/MONDO_0012580	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性肺胞蛋白症	hereditary pulmonary alveolar proteinosis	https://omim.org/phenotypicSeries/PS265120	OMIMPS:265120
NANDO:2200134	リポタンパク糸球体症	Lipoprotein glomerulopathy	MONDO:0012725	http://purl.obolibrary.org/obo/MONDO_0012725	http://www.w3.org/2004/02/skos/core#exactMatch	リポタンパク糸球体症	lipoprotein glomerulopathy	https://omim.org/entry/611771	OMIM:611771
NANDO:2200053	ユーイング肉腫	Ewing's sarcoma	MONDO:0012817	http://purl.obolibrary.org/obo/MONDO_0012817	http://www.w3.org/2004/02/skos/core#exactMatch	ユーイング肉腫	Ewing sarcoma	https://omim.org/entry/612219	OMIM:612219
NANDO:2200007	急性前骨髄球性白血病	Acute promyelocytic leukemia	MONDO:0012883	http://purl.obolibrary.org/obo/MONDO_0012883	http://www.w3.org/2004/02/skos/core#exactMatch	急性前骨髄球性白血病	acute promyelocytic leukemia	https://omim.org/entry/612376	OMIM:612376
NANDO:1201077	偽性副甲状腺機能低下症Ic型	Pseudohypoparathyroidism type 1C	MONDO:0012911	http://purl.obolibrary.org/obo/MONDO_0012911	http://www.w3.org/2004/02/skos/core#exactMatch	偽性副甲状腺機能低下症1C型	pseudohypoparathyroidism type 1C	https://omim.org/entry/612462	OMIM:612462
NANDO:1201047	進行性家族性肝内胆汁うっ滞症5型	Progressive familial intrahepatic cholestasis type 5	MONDO:0014884	http://purl.obolibrary.org/obo/MONDO_0014884	http://www.w3.org/2004/02/skos/core#exactMatch	胆汁うっ滞, 進行性家族性肝内, 5	cholestasis, progressive familial intrahepatic, 5	https://omim.org/entry/617049	OMIM:617049
NANDO:2200146	バーター症候群	Bartter syndrome	MONDO:0015231	http://purl.obolibrary.org/obo/MONDO_0015231	http://www.w3.org/2004/02/skos/core#exactMatch	バーター症候群	Bartter syndrome	https://omim.org/phenotypicSeries/PS601678	OMIMPS:601678
NANDO:2100221	早老症	Progeroid syndromes	MONDO:0015333	http://purl.obolibrary.org/obo/MONDO_0015333	http://www.w3.org/2004/02/skos/core#exactMatch	早老症様症候群	progeroid syndrome	https://omim.org/phenotypicSeries/PS176670	OMIMPS:176670
NANDO:1201051	口-顔-指症候群	Oral-facial-digital syndrome	MONDO:0015375	http://purl.obolibrary.org/obo/MONDO_0015375	http://www.w3.org/2004/02/skos/core#exactMatch	口・顔・指症候群	orofaciodigital syndrome	https://omim.org/phenotypicSeries/PS311200	OMIMPS:311200
NANDO:2100227	頭蓋骨縫合早期癒合症	Craniosynostosis	MONDO:0015469	http://purl.obolibrary.org/obo/MONDO_0015469	http://www.w3.org/2004/02/skos/core#exactMatch	頭蓋骨癒合症	craniosynostosis	https://omim.org/phenotypicSeries/PS123100	OMIMPS:123100
NANDO:1201096	線毛機能不全症候群（カルタゲナー症候群を含む。）	Primary ciliary dyskinesia (including Kartagener syndrome)	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	http://www.w3.org/2004/02/skos/core#exactMatch	原発性線毛機能不全症	primary ciliary dyskinesia	https://omim.org/phenotypicSeries/PS244400	OMIMPS:244400
NANDO:2200203	線毛機能不全症候群	Primary ciliary dyskinesia	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	http://www.w3.org/2004/02/skos/core#exactMatch	原発性線毛機能不全症	primary ciliary dyskinesia	https://omim.org/phenotypicSeries/PS244400	OMIMPS:244400
NANDO:2100148	多発性内分泌腫瘍	Multiple endocrine neoplasia	MONDO:0017169	http://purl.obolibrary.org/obo/MONDO_0017169	http://www.w3.org/2004/02/skos/core#exactMatch	多発性内分泌腫瘍	multiple endocrine neoplasia	https://omim.org/phenotypicSeries/PS131100	OMIMPS:131100
NANDO:1201049	セニオール・ローケン症候群	Senior-Loken syndrome	MONDO:0017842	http://purl.obolibrary.org/obo/MONDO_0017842	http://www.w3.org/2004/02/skos/core#exactMatch	Senior-Loken症候群	Senior-Loken syndrome	https://omim.org/phenotypicSeries/PS266900	OMIMPS:266900
NANDO:2200221	カテコラミン誘発多形性心室頻拍	Catecholaminergic polymorphic ventricular tachycardia	MONDO:0017990	http://purl.obolibrary.org/obo/MONDO_0017990	http://www.w3.org/2004/02/skos/core#exactMatch	カテコラミン誘発多形性心室頻拍	catecholaminergic polymorphic ventricular tachycardia	https://omim.org/phenotypicSeries/PS604772	OMIMPS:604772
NANDO:2100241	脳の鉄沈着を伴う神経変性疾患	Neurodegeneration with brain iron accumulation	MONDO:0018307	http://purl.obolibrary.org/obo/MONDO_0018307	http://www.w3.org/2004/02/skos/core#exactMatch	脳内鉄沈着神経変性症	neurodegeneration with brain iron accumulation	https://omim.org/phenotypicSeries/PS234200	OMIMPS:234200
NANDO:2200031	ランゲルハンス細胞組織球症	Langerhans cell histiocytosis	MONDO:0018310	http://purl.obolibrary.org/obo/MONDO_0018310	http://www.w3.org/2004/02/skos/core#exactMatch	ランゲルハンス細胞組織球症	Langerhans cell histiocytosis	https://omim.org/entry/604856	OMIM:604856
NANDO:2200156	腎無形成	Renal aplasia	MONDO:0018470	http://purl.obolibrary.org/obo/MONDO_0018470	http://www.w3.org/2004/02/skos/core#exactMatch	腎無発生	renal agenesis	https://omim.org/phenotypicSeries/PS191830	OMIMPS:191830
NANDO:2200019	骨髄異形成症候群	Myelodysplastic syndrome	MONDO:0018881	http://purl.obolibrary.org/obo/MONDO_0018881	http://www.w3.org/2004/02/skos/core#exactMatch	骨髄異形成症候群	myelodysplastic syndrome	https://omim.org/entry/614286	OMIM:614286
NANDO:2200126	慢性糸球体腎炎（アルポート 症候群によるものに限る。）	Alport syndrome	MONDO:0018965	http://purl.obolibrary.org/obo/MONDO_0018965	http://www.w3.org/2004/02/skos/core#exactMatch	アルポート症候群	Alport syndrome	https://omim.org/phenotypicSeries/PS301050	OMIMPS:301050
NANDO:2200140	ネフロン癆	Nephronophthisis	MONDO:0019005	http://purl.obolibrary.org/obo/MONDO_0019005	http://www.w3.org/2004/02/skos/core#exactMatch	ネフロン癆	nephronophthisis	https://omim.org/phenotypicSeries/PS256100	OMIMPS:256100
NANDO:2200435	中條・西村症候群	Nakajo-Nishimura syndrome	MONDO:0009726	http://purl.obolibrary.org/obo/MONDO_0009726	http://www.w3.org/2004/02/skos/core#exactMatch	プロテアソーム関連自己炎症症候群	proteosome-associated autoinflammatory syndrome	https://omim.org/phenotypicSeries/PS256040	OMIMPS:256040
NANDO:2200438	慢性再発性多発性骨髄炎	Chronic recurrent multifocal osteomyelitis	MONDO:0009813	http://purl.obolibrary.org/obo/MONDO_0009813	http://www.w3.org/2004/02/skos/core#exactMatch	慢性再発性多発性骨髄炎	chronic recurrent multifocal osteomyelitis	https://omim.org/phenotypicSeries/PS609628	OMIMPS:609628
NANDO:2200467	フェニルケトン尿症	Phenylketonuria	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	http://www.w3.org/2004/02/skos/core#exactMatch	フェニルケトン尿症	phenylketonuria	https://omim.org/entry/261600	OMIM:261600
NANDO:2200390	17β-ヒドロキシステロイド脱水素酵素欠損症	17 beta-hydroxysteroid dehydrogenase deficiency	MONDO:0009916	http://purl.obolibrary.org/obo/MONDO_0009916	http://www.w3.org/2004/02/skos/core#exactMatch	17β-ヒドロキシステロイド脱水素酵素3欠損による46,XX性分化疾患	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	https://omim.org/entry/264300	OMIM:264300
NANDO:2200389	5α-還元酵素欠損症	5 alpha-reductase deficiency	MONDO:0009923	http://purl.obolibrary.org/obo/MONDO_0009923	http://www.w3.org/2004/02/skos/core#exactMatch	5α-還元酵素2欠損による46,XY性分化疾患	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	https://omim.org/entry/264600	OMIM:264600
NANDO:2200253	心室中隔欠損を伴わない肺動脈閉鎖症	Pulmonary atresia with intact ventricular septum	MONDO:0009931	http://purl.obolibrary.org/obo/MONDO_0009931	http://www.w3.org/2004/02/skos/core#exactMatch	肺動脈閉鎖症-心室中隔欠損を伴わない	pulmonary atresia-intact ventricular septum syndrome	https://omim.org/entry/265150	OMIM:265150
NANDO:2200347	自己免疫性多内分泌腺症候群2型	Autoimmune polyendocrinopathy type 2	MONDO:0010012	http://purl.obolibrary.org/obo/MONDO_0010012	http://www.w3.org/2004/02/skos/core#exactMatch	自己免疫性多発性内分泌症2型	autoimmune polyendocrinopathy type 2	https://omim.org/entry/269200	OMIM:269200
NANDO:2200420	シェーグレン症候群	Sjogren's syndrome	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	http://www.w3.org/2004/02/skos/core#exactMatch	シェーグレン症候群	Sjogren syndrome	https://omim.org/entry/270150	OMIM:270150
NANDO:2200320	インスリン様成長因子1不応症	IGF1 insensitivity	MONDO:0010038	http://purl.obolibrary.org/obo/MONDO_0010038	http://www.w3.org/2004/02/skos/core#exactMatch	インスリン様成長因子I抵抗性による成長遅延	growth delay due to insulin-like growth factor I resistance	https://omim.org/entry/270450	OMIM:270450
NANDO:2200469	高チロシン血症2型	Tyrosinemia type 2	MONDO:0010160	http://purl.obolibrary.org/obo/MONDO_0010160	http://www.w3.org/2004/02/skos/core#exactMatch	チロシン血症II型	tyrosinemia type II	https://omim.org/entry/276600	OMIM:276600
NANDO:2200468	高チロシン血症1型	Tyrosinemia type 1	MONDO:0010161	http://purl.obolibrary.org/obo/MONDO_0010161	http://www.w3.org/2004/02/skos/core#exactMatch	チロシン血症I型	tyrosinemia type I	https://omim.org/entry/276700	OMIM:276700
NANDO:2200470	高チロシン血症3型	Tyrosinemia type 3	MONDO:0010162	http://purl.obolibrary.org/obo/MONDO_0010162	http://www.w3.org/2004/02/skos/core#exactMatch	チロシン血症III型	tyrosinemia type III	https://omim.org/entry/276710	OMIM:276710
NANDO:2200443	CARD14異常症	CARD14 deficiency	MONDO:0011269	http://purl.obolibrary.org/obo/MONDO_0011269	http://www.w3.org/2004/02/skos/core#exactMatch	乾癬2	psoriasis 2	https://omim.org/entry/602723	OMIM:602723
NANDO:2200457	SLC29A3異常症	SLC29A3 deficiency	MONDO:0011273	http://purl.obolibrary.org/obo/MONDO_0011273	http://www.w3.org/2004/02/skos/core#exactMatch	H症候群	H syndrome	https://omim.org/entry/602782	OMIM:602782
NANDO:2200415	若年性特発性関節炎	Juvenile idiopathic arthritis	MONDO:0011429	http://purl.obolibrary.org/obo/MONDO_0011429	http://www.w3.org/2004/02/skos/core#exactMatch	若年性特発性関節炎	juvenile idiopathic arthritis	https://omim.org/entry/604302	OMIM:604302
NANDO:2200437	化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群	Pyogenic arthritis, pyoderma gangrenosum, acne syndrome	MONDO:0011462	http://purl.obolibrary.org/obo/MONDO_0011462	http://www.w3.org/2004/02/skos/core#exactMatch	化膿性関節炎-壊疽性膿皮症-ざ瘡症候群	pyogenic arthritis-pyoderma gangrenosum-acne syndrome	https://omim.org/entry/604416	OMIM:604416
NANDO:2200251	三尖弁閉鎖症	Tricuspid atresia	MONDO:0011514	http://purl.obolibrary.org/obo/MONDO_0011514	http://www.w3.org/2004/02/skos/core#exactMatch	三尖弁閉鎖症	tricuspid atresia	https://omim.org/entry/605067	OMIM:605067
NANDO:2200264	動脈管開存症	Patent ductus arteriosus	MONDO:0011827	http://purl.obolibrary.org/obo/MONDO_0011827	http://www.w3.org/2004/02/skos/core#exactMatch	動脈管開存	patent ductus arteriosus	https://omim.org/phenotypicSeries/PS607411	OMIMPS:607411
NANDO:2200424	多発血管炎性肉芽腫症	Granulomatosis with polyangiitis	MONDO:0012105	http://purl.obolibrary.org/obo/MONDO_0012105	http://www.w3.org/2004/02/skos/core#exactMatch	多発血管炎性肉芽腫症	granulomatosis with polyangiitis	https://omim.org/entry/608710	OMIM:608710
NANDO:2200453	Majeed症候群	Majeed syndrome	MONDO:0012316	http://purl.obolibrary.org/obo/MONDO_0012316	http://www.w3.org/2004/02/skos/core#exactMatch	マジード症候群	Majeed syndrome	https://omim.org/entry/609628	OMIM:609628
NANDO:2200449	NLRP-12関連周期性症候群	NLRP12-associated periodic syndrome	MONDO:0012724	http://purl.obolibrary.org/obo/MONDO_0012724	http://www.w3.org/2004/02/skos/core#exactMatch	家族性寒冷自己炎症症候群2	familial cold autoinflammatory syndrome 2	https://omim.org/entry/611762	OMIM:611762
NANDO:2200348	偽性偽性副甲状腺機能低下症	Pseudopseudohypoparathyroidism	MONDO:0012912	http://purl.obolibrary.org/obo/MONDO_0012912	http://www.w3.org/2004/02/skos/core#exactMatch	偽性偽性副甲状腺機能低下症	pseudopseudohypoparathyroidism	https://omim.org/entry/612463	OMIM:612463
NANDO:2200448	IL-10RB欠損症	IL-10RB deficiency	MONDO:0012941	http://purl.obolibrary.org/obo/MONDO_0012941	http://www.w3.org/2004/02/skos/core#exactMatch	炎症性腸疾患25	inflammatory bowel disease 25	https://omim.org/entry/612567	OMIM:612567
NANDO:2200439	インターロイキンI受容体拮抗分子欠損症	Deficiency of the interleukin-1-receptor antagonist	MONDO:0013021	http://purl.obolibrary.org/obo/MONDO_0013021	http://www.w3.org/2004/02/skos/core#exactMatch	骨膜炎および膿疱を伴う無菌性多発性骨髄炎	sterile multifocal osteomyelitis with periostitis and pustulosis	https://omim.org/entry/612852	OMIM:612852
NANDO:2200447	IL-10RA欠損症	IL-10RA deficiency	MONDO:0013153	http://purl.obolibrary.org/obo/MONDO_0013153	http://www.w3.org/2004/02/skos/core#exactMatch	炎症性腸疾患28	inflammatory bowel disease 28	https://omim.org/entry/613148	OMIM:613148
NANDO:2200375	P450酸化還元酵素欠損症	P450 oxidoreductase deficiency	MONDO:0013310	http://purl.obolibrary.org/obo/MONDO_0013310	http://www.w3.org/2004/02/skos/core#exactMatch	シトクロムP450酸化還元酵素欠損による先天性副腎過形成	congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	https://omim.org/entry/613571	OMIM:613571
NANDO:2200452	IL36RN欠損症	IL36RN deficiency	MONDO:0013626	http://purl.obolibrary.org/obo/MONDO_0013626	http://www.w3.org/2004/02/skos/core#exactMatch	乾癬14, 膿疱性	psoriasis 14, pustular	https://omim.org/entry/614204	OMIM:614204
NANDO:2200455	フォスフォリパーゼCγ2関連抗体欠損免疫異常症	PLCG2-associated antibody deficiency and immune dysregulation	MONDO:0013766	http://purl.obolibrary.org/obo/MONDO_0013766	http://www.w3.org/2004/02/skos/core#exactMatch	家族性寒冷自己炎症症候群3	familial cold autoinflammatory syndrome 3	https://omim.org/entry/614468	OMIM:614468
NANDO:2200442	自己炎症合併フォスフォリパーゼCγ2関連抗体欠損免疫異常症	Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation	MONDO:0013944	http://purl.obolibrary.org/obo/MONDO_0013944	http://www.w3.org/2004/02/skos/core#exactMatch	自己炎症-PLCG2関連抗体欠損-免疫調節障害	autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	https://omim.org/entry/614878	OMIM:614878
NANDO:2200441	ADA2欠損症	Adenosine deaminase 2 deficiency	MONDO:0014306	http://purl.obolibrary.org/obo/MONDO_0014306	http://www.w3.org/2004/02/skos/core#exactMatch	アデノシンデアミナーゼ2欠損症	deficiency of adenosine deaminase 2	https://omim.org/entry/615688	OMIM:615688
NANDO:2200358	グルココルチコイド抵抗症	Glucocorticoid resistance	MONDO:0014421	http://purl.obolibrary.org/obo/MONDO_0014421	http://www.w3.org/2004/02/skos/core#exactMatch	グルココルチコイド抵抗症	glucocorticoid resistance	https://omim.org/entry/615962	OMIM:615962
NANDO:2200459	NLRC4異常症	NLRC4 mutation	MONDO:0014472	http://purl.obolibrary.org/obo/MONDO_0014472	http://www.w3.org/2004/02/skos/core#exactMatch	周期熱-乳児腸炎-自己炎症症候群	periodic fever-infantile enterocolitis-autoinflammatory syndrome	https://omim.org/entry/616050	OMIM:616050
NANDO:2200360	アジソン病	Addison's disease	MONDO:0015129	http://purl.obolibrary.org/obo/MONDO_0015129	http://www.w3.org/2004/02/skos/core#exactMatch	慢性原発性副腎機能不全	chronic primary adrenal insufficiency	https://omim.org/entry/240200	OMIM:240200
NANDO:2200414	バルデー・ビードル症候群	Bardet-Biedl syndrome	MONDO:0015229	http://purl.obolibrary.org/obo/MONDO_0015229	http://www.w3.org/2004/02/skos/core#exactMatch	バルデー・ビードル症候群	Bardet-Biedl syndrome	https://omim.org/phenotypicSeries/PS209900	OMIMPS:209900
NANDO:2200275	右室二腔症	Double-chambered right ventricle	MONDO:0016581	http://purl.obolibrary.org/obo/MONDO_0016581	http://www.w3.org/2004/02/skos/core#exactMatch	円錐動脈幹異常	conotruncal heart malformations	https://omim.org/entry/217095	OMIM:217095
NANDO:2200423	高安動脈炎	Takayasu arteritis	MONDO:0017991	http://purl.obolibrary.org/obo/MONDO_0017991	http://www.w3.org/2004/02/skos/core#exactMatch	高安動脈炎	Takayasu arteritis	https://omim.org/entry/207600	OMIM:207600
NANDO:2200382	低ゴナドトロピン性性腺機能低下症	Hypogonadotropic hypogonadism	MONDO:0018555	http://purl.obolibrary.org/obo/MONDO_0018555	http://www.w3.org/2004/02/skos/core#exactMatch	低ゴナドトロピン性性腺機能低下症	hypogonadotropic hypogonadism	https://omim.org/phenotypicSeries/PS147950	OMIMPS:147950
NANDO:2200231	心筋緻密化障害	Non-compaction of the ventricle	MONDO:0018901	http://purl.obolibrary.org/obo/MONDO_0018901	http://www.w3.org/2004/02/skos/core#exactMatch	心筋緻密化障害	left ventricular noncompaction	https://omim.org/phenotypicSeries/PS604169	OMIMPS:604169
NANDO:2200462	若年発症成人型糖尿病	Maturity-onset diabetes of the young	MONDO:0018911	http://purl.obolibrary.org/obo/MONDO_0018911	http://www.w3.org/2004/02/skos/core#exactMatch	若年発症成人型糖尿病	maturity-onset diabetes of the young	https://omim.org/phenotypicSeries/PS125850	OMIMPS:125850
NANDO:2200412	マッキューン・オルブライト症候群	McCune-Albright syndrome	MONDO:0018919	http://purl.obolibrary.org/obo/MONDO_0018919	http://www.w3.org/2004/02/skos/core#exactMatch	マッキューン・オルブライト症候群	McCune-Albright syndrome	https://omim.org/entry/174800	OMIM:174800
NANDO:2200413	ヌーナン症候群	Noonan syndrome	MONDO:0018997	http://purl.obolibrary.org/obo/MONDO_0018997	http://www.w3.org/2004/02/skos/core#exactMatch	ヌーナン症候群	Noonan syndrome	https://omim.org/phenotypicSeries/PS163950	OMIMPS:163950
NANDO:2200391	アンドロゲン不応症	Androgen insensitivity syndrome	MONDO:0019154	http://purl.obolibrary.org/obo/MONDO_0019154	http://www.w3.org/2004/02/skos/core#exactMatch	アンドロゲン不応症	androgen insensitivity syndrome	https://omim.org/entry/300068	OMIM:300068
NANDO:2200368	偽性低アルドステロン症I型	Pseudohypoaldosteronism type I	MONDO:0019161	http://purl.obolibrary.org/obo/MONDO_0019161	http://www.w3.org/2004/02/skos/core#exactMatch	偽性低アルドステロン症1型	pseudohypoaldosteronism type 1	https://omim.org/phenotypicSeries/PS177735	OMIMPS:177735
NANDO:2200369	偽性低アルドステロン症II型	Pseudohypoaldosteronism type II	MONDO:0019162	http://purl.obolibrary.org/obo/MONDO_0019162	http://www.w3.org/2004/02/skos/core#exactMatch	偽性低アルドステロン症2型	pseudohypoaldosteronism type 2	https://omim.org/phenotypicSeries/PS145260	OMIMPS:145260
NANDO:2200377	ゴナドトロピン依存性思春期早発症	Gonadotropin-dependent precocious puberty	MONDO:0019165	http://purl.obolibrary.org/obo/MONDO_0019165	http://www.w3.org/2004/02/skos/core#exactMatch	中枢性思春期早発症	central precocious puberty	https://omim.org/phenotypicSeries/PS176400	OMIMPS:176400
NANDO:2200509	カルニチンパルミトイルトランスフェラーゼI欠損症	Carnitine palmitoyltransferase I deficiency	MONDO:0009705	http://purl.obolibrary.org/obo/MONDO_0009705	http://www.w3.org/2004/02/skos/core#exactMatch	カルニチンパルミトイルトランスフェラーゼ1A欠損症	carnitine palmitoyl transferase 1A deficiency	https://omim.org/entry/255120	OMIM:255120
NANDO:2200527	リー症候群	Leigh syndrome	MONDO:0009723	http://purl.obolibrary.org/obo/MONDO_0009723	http://www.w3.org/2004/02/skos/core#exactMatch	リー症候群	Leigh syndrome	https://omim.org/entry/256000	OMIM:256000
NANDO:2200557	ガラクトシアリドーシス	Galactosialidosis	MONDO:0009737	http://purl.obolibrary.org/obo/MONDO_0009737	http://www.w3.org/2004/02/skos/core#exactMatch	ガラクトシアリドーシス	galactosialidosis	https://omim.org/entry/256540	OMIM:256540
NANDO:2200590	オロト酸尿症	Orotic aciduria	MONDO:0009797	http://purl.obolibrary.org/obo/MONDO_0009797	http://www.w3.org/2004/02/skos/core#exactMatch	オロチン酸尿症	orotic aciduria	https://omim.org/entry/258900	OMIM:258900
NANDO:2200671	スコット症候群	Scott syndrome	MONDO:0009885	http://purl.obolibrary.org/obo/MONDO_0009885	http://www.w3.org/2004/02/skos/core#exactMatch	Scott症候群	Scott syndrome	https://omim.org/entry/262890	OMIM:262890
NANDO:2200643	真性多血症	Polycythemia vera	MONDO:0009891	http://purl.obolibrary.org/obo/MONDO_0009891	http://www.w3.org/2004/02/skos/core#exactMatch	後天性真性赤血球増加症	acquired polycythemia vera	https://omim.org/entry/263300	OMIM:263300
NANDO:2200631	遺伝性熱変形赤血球症	Hereditary pyropoikilocytosis	MONDO:0009948	http://purl.obolibrary.org/obo/MONDO_0009948	http://www.w3.org/2004/02/skos/core#exactMatch	熱変形赤血球症, 遺伝性	pyropoikilocytosis, hereditary	https://omim.org/entry/266140	OMIM:266140
NANDO:2200519	ピルビン酸カルボキシラーゼ欠損症	Pyruvate carboxylase deficiency	MONDO:0009949	http://purl.obolibrary.org/obo/MONDO_0009949	http://www.w3.org/2004/02/skos/core#exactMatch	ピルビン酸カルボキシラーゼ欠損症	pyruvate carboxylase deficiency disease	https://omim.org/entry/266150	OMIM:266150
NANDO:2200628	ピルビン酸キナーゼ欠乏性貧血	Hemolytic anemia due to red cell pyruvate kinase deficiency	MONDO:0009950	http://purl.obolibrary.org/obo/MONDO_0009950	http://www.w3.org/2004/02/skos/core#exactMatch	赤血球ピルビン酸キナーゼ欠乏症	pyruvate kinase deficiency of red cells	https://omim.org/entry/266200	OMIM:266200
NANDO:2200577	レフサム病	Refsum disease	MONDO:0009958	http://purl.obolibrary.org/obo/MONDO_0009958	http://www.w3.org/2004/02/skos/core#exactMatch	成人レフサム病	adult Refsum disease	https://omim.org/entry/266500	OMIM:266500
NANDO:2200599	コハク酸セミアルデヒド脱水素酵素欠損症	Succinic semialdehyde dehydrogenase deficiency	MONDO:0010083	http://purl.obolibrary.org/obo/MONDO_0010083	http://www.w3.org/2004/02/skos/core#exactMatch	コハク酸セミアルデヒド脱水素酵素欠損症	succinic semialdehyde dehydrogenase deficiency	https://omim.org/entry/271980	OMIM:271980
NANDO:2200566	マルチプルスルファターゼ欠損症	Multiple sulfatase deficiency	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	http://www.w3.org/2004/02/skos/core#exactMatch	マルチプルサルファターゼ欠損症	mucosulfatidosis	https://omim.org/entry/272200	OMIM:272200
NANDO:2200583	亜硫酸酸化酵素欠損症	Sulfite oxidase deficiency	MONDO:0010089	http://purl.obolibrary.org/obo/MONDO_0010089	http://www.w3.org/2004/02/skos/core#exactMatch	亜硫酸オキシダーゼ単独欠損症	isolated sulfite oxidase deficiency	https://omim.org/entry/272300	OMIM:272300
NANDO:2200661	橈骨欠損を伴う血小板減少症	Thrombocytopenia with absent radii	MONDO:0010121	http://purl.obolibrary.org/obo/MONDO_0010121	http://www.w3.org/2004/02/skos/core#exactMatch	血小板減少-橈骨欠損症候群	thrombocytopenia-absent radius syndrome	https://omim.org/entry/274000	OMIM:274000
NANDO:2200579	ウィルソン病	Wilson disease	MONDO:0010200	http://purl.obolibrary.org/obo/MONDO_0010200	http://www.w3.org/2004/02/skos/core#exactMatch	ウィルソン病	Wilson disease	https://omim.org/entry/277900	OMIM:277900
NANDO:2200563	ファブリー病	Fabry disease	MONDO:0010526	http://purl.obolibrary.org/obo/MONDO_0010526	http://www.w3.org/2004/02/skos/core#exactMatch	ファブリー病	Fabry disease	https://omim.org/entry/301500	OMIM:301500
NANDO:2200581	オクシピタル・ホーン症候群	Occipital horn syndrome	MONDO:0010572	http://purl.obolibrary.org/obo/MONDO_0010572	http://www.w3.org/2004/02/skos/core#exactMatch	オクシピタル・ホーン症候群	occipital horn syndrome	https://omim.org/entry/304150	OMIM:304150
NANDO:2200676	血友病Ａ	Hemophilia A	MONDO:0010602	http://purl.obolibrary.org/obo/MONDO_0010602	http://www.w3.org/2004/02/skos/core#exactMatch	血友病A	hemophilia A	https://omim.org/entry/134500	OMIM:134500
NANDO:2200676	血友病Ａ	Hemophilia A	MONDO:0010602	http://purl.obolibrary.org/obo/MONDO_0010602	http://www.w3.org/2004/02/skos/core#exactMatch	血友病A	hemophilia A	https://omim.org/entry/306700	OMIM:306700
NANDO:2200505	グリセロール尿症	Glycerol kinase deficiency	MONDO:0010613	http://purl.obolibrary.org/obo/MONDO_0010613	http://www.w3.org/2004/02/skos/core#exactMatch	先天性グリセロールキナーゼ欠損症	inborn glycerol kinase deficiency	https://omim.org/entry/307030	OMIM:307030
NANDO:2200580	メンケス病	Menkes disease	MONDO:0010651	http://purl.obolibrary.org/obo/MONDO_0010651	http://www.w3.org/2004/02/skos/core#exactMatch	メンケス病	Menkes disease	https://omim.org/entry/309400	OMIM:309400
NANDO:2200548	ムコ多糖症II型	Mucopolysaccharidosis type II	MONDO:0010674	http://purl.obolibrary.org/obo/MONDO_0010674	http://www.w3.org/2004/02/skos/core#exactMatch	ムコ多糖症2型	mucopolysaccharidosis type 2	https://omim.org/entry/309900	OMIM:309900
NANDO:2200479	オルニチントランスカルバミラーゼ欠損症	Ornithine transcarbamylase deficiency	MONDO:0010703	http://purl.obolibrary.org/obo/MONDO_0010703	http://www.w3.org/2004/02/skos/core#exactMatch	OTC欠損症	ornithine carbamoyltransferase deficiency	https://omim.org/entry/311250	OMIM:311250
NANDO:2200529	カーンズ・セイヤー症候群	Kearns-Sayre syndrome	MONDO:0010787	http://purl.obolibrary.org/obo/MONDO_0010787	http://www.w3.org/2004/02/skos/core#exactMatch	カーンズ・セイヤー症候群	Kearns-Sayre syndrome	https://omim.org/entry/530000	OMIM:530000
NANDO:2200525	MELAS	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)	MONDO:0010789	http://purl.obolibrary.org/obo/MONDO_0010789	http://www.w3.org/2004/02/skos/core#exactMatch	ミトコンドリア脳筋症，乳酸アシドーシス，脳卒中様エピソード	MELAS syndrome	https://omim.org/entry/540000	OMIM:540000
NANDO:2200526	赤色ぼろ線維・ミオクローヌスてんかん症候群	Myoclonus epilepsy associated with ragged-red fibers	MONDO:0010790	http://purl.obolibrary.org/obo/MONDO_0010790	http://www.w3.org/2004/02/skos/core#exactMatch	赤色ぼろ線維・ミオクローヌスてんかん症候群	MERRF syndrome	https://omim.org/entry/545000	OMIM:545000
NANDO:2200624	鎌状赤血球症	Sickle cell disease	MONDO:0011382	http://purl.obolibrary.org/obo/MONDO_0011382	http://www.w3.org/2004/02/skos/core#exactMatch	鎌状赤血球症	sickle cell disease	https://omim.org/entry/603903	OMIM:603903
NANDO:2200582	無セルロプラスミン血症	Aceruloplasminemia	MONDO:0011426	http://purl.obolibrary.org/obo/MONDO_0011426	http://www.w3.org/2004/02/skos/core#exactMatch	NBIA４	aceruloplasminemia	https://omim.org/entry/604290	OMIM:604290
NANDO:2200660	橈骨尺骨融合を伴う血小板減少症	Congenital thrombocytopenia with radio-ulnar synostosis	MONDO:0011555	http://purl.obolibrary.org/obo/MONDO_0011555	http://www.w3.org/2004/02/skos/core#exactMatch	橈尺骨癒合-無巨核球性血小板減少症候群	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	https://omim.org/phenotypicSeries/PS605432	OMIMPS:605432
NANDO:2200476	非ケトーシス型高グリシン血症	Nonketotic hyperglycinemia	MONDO:0011612	http://purl.obolibrary.org/obo/MONDO_0011612	http://www.w3.org/2004/02/skos/core#exactMatch	グリシン脳症	glycine encephalopathy	https://omim.org/phenotypicSeries/PS605899	OMIMPS:605899
NANDO:2200498	3-ヒドロキシ-3-メチルグルタリルCoA合成酵素欠損症	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	MONDO:0011614	http://purl.obolibrary.org/obo/MONDO_0011614	http://www.w3.org/2004/02/skos/core#exactMatch	3-ヒドロキシ-3-メチルグルタリルCoA合成酵素欠損症	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	https://omim.org/entry/605911	OMIM:605911
NANDO:2200492	プロピオン酸血症	Propionic acidemia	MONDO:0011628	http://purl.obolibrary.org/obo/MONDO_0011628	http://www.w3.org/2004/02/skos/core#exactMatch	プロピオン酸血症	propionic acidemia	https://omim.org/entry/606054	OMIM:606054
NANDO:2200545	グルコーストランスポーター1欠損症	Glucose transporter 1 deficiency	MONDO:0011724	http://purl.obolibrary.org/obo/MONDO_0011724	http://www.w3.org/2004/02/skos/core#exactMatch	GLUT1欠損による脳症	encephalopathy due to GLUT1 deficiency	https://omim.org/entry/606777	OMIM:606777
NANDO:2200520	フマラーゼ欠損症	Fumarase deficiency	MONDO:0011730	http://purl.obolibrary.org/obo/MONDO_0011730	http://www.w3.org/2004/02/skos/core#exactMatch	フマラーゼ欠損症	fumaric aciduria	https://omim.org/entry/606812	OMIM:606812
NANDO:2200596	芳香族L－アミノ酸脱炭酸酵素欠損症	Aromatic L-amino acid decarboxylase deficiency	MONDO:0012084	http://purl.obolibrary.org/obo/MONDO_0012084	http://www.w3.org/2004/02/skos/core#exactMatch	芳香族L-アミノ酸脱炭酸酵素欠損症	aromatic L-amino acid decarboxylase deficiency	https://omim.org/entry/608643	OMIM:608643
NANDO:2200515	三頭酵素欠損症	Trifunctional protein deficiency	MONDO:0012172	http://purl.obolibrary.org/obo/MONDO_0012172	http://www.w3.org/2004/02/skos/core#exactMatch	ミトコンドリア三機能タンパク欠乏症	mitochondrial trifunctional protein deficiency	https://omim.org/phenotypicSeries/PS609015	OMIMPS:609015
NANDO:2200669	ADP受容体異常症	ADP receptor deficiencies	MONDO:0012354	http://purl.obolibrary.org/obo/MONDO_0012354	http://www.w3.org/2004/02/skos/core#exactMatch	血小板型出血性疾患8	platelet-type bleeding disorder 8	https://omim.org/entry/609821	OMIM:609821
NANDO:2200598	GABAアミノ基転移酵素欠損症	Gamma-amino butyrate aminotransferase deficiency	MONDO:0013166	http://purl.obolibrary.org/obo/MONDO_0013166	http://www.w3.org/2004/02/skos/core#exactMatch	GABAアミノ基転移酵素欠損症	GABA aminotransaminase deficiency	https://omim.org/entry/613163	OMIM:613163
NANDO:2200611	α1-アンチトリプシン欠損症	Alpha-1-antitrypsin deficiency	MONDO:0013282	http://purl.obolibrary.org/obo/MONDO_0013282	http://www.w3.org/2004/02/skos/core#exactMatch	α1-アンチトリプシン欠損症	alpha 1-antitrypsin deficiency	https://omim.org/entry/613490	OMIM:613490
NANDO:2200673	先天性プロトロンビン欠乏症	Hypoprothrombinemia	MONDO:0013361	http://purl.obolibrary.org/obo/MONDO_0013361	http://www.w3.org/2004/02/skos/core#exactMatch	先天性プロトロンビン欠乏症	congenital prothrombin deficiency	https://omim.org/entry/613679	OMIM:613679
NANDO:2200670	コラーゲン受容体異常症	Abnormalities in platelet collagen receptors	MONDO:0013623	http://purl.obolibrary.org/obo/MONDO_0013623	http://www.w3.org/2004/02/skos/core#exactMatch	血小板型出血性疾患11	platelet-type bleeding disorder 11	https://omim.org/entry/614201	OMIM:614201
NANDO:2200587	アデニンホスホリボシルトランスフェラーゼ欠損症	Adenine phosphoribosyltransferase deficiency	MONDO:0013869	http://purl.obolibrary.org/obo/MONDO_0013869	http://www.w3.org/2004/02/skos/core#exactMatch	アデニンホスホリボシルトランスフェラーゼ欠損症	adenine phosphoribosyltransferase deficiency	https://omim.org/entry/614723	OMIM:614723
NANDO:2200665	αアクチニン1異常症	ACTN1 mutations	MONDO:0014078	http://purl.obolibrary.org/obo/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://omim.org/entry/615193	OMIM:615193
NANDO:2200614	先天性赤芽球癆	Congenital red cell aplasia	MONDO:0015253	http://purl.obolibrary.org/obo/MONDO_0015253	http://www.w3.org/2004/02/skos/core#exactMatch	ダイアモンド・ブラックファン貧血	Diamond-Blackfan anemia	https://omim.org/phenotypicSeries/PS105650	OMIMPS:105650
NANDO:2200573	神経セロイドリポフスチン症	Neuronal ceroid lipofuscinoses	MONDO:0016295	http://purl.obolibrary.org/obo/MONDO_0016295	http://www.w3.org/2004/02/skos/core#exactMatch	神経セロイドリポフスチン症	neuronal ceroid lipofuscinosis	https://omim.org/phenotypicSeries/PS256730	OMIMPS:256730
NANDO:2200496	メチルグルタコン酸尿症	Methylglutaconic aciduria	MONDO:0017359	http://purl.obolibrary.org/obo/MONDO_0017359	http://www.w3.org/2004/02/skos/core#exactMatch	3-メチルグルタコン酸尿症	3-methylglutaconic aciduria	https://omim.org/phenotypicSeries/PS250950	OMIMPS:250950
NANDO:2200523	ミトコンドリアDNA枯渇症候群	Mitochondrial DNA depletion syndrome	MONDO:0018158	http://purl.obolibrary.org/obo/MONDO_0018158	http://www.w3.org/2004/02/skos/core#exactMatch	ミトコンドリアDNA枯渇症候群	mitochondrial DNA depletion syndrome	https://omim.org/phenotypicSeries/PS603041	OMIMPS:603041
NANDO:2200576	副腎白質ジストロフィー	Adrenoleukodystrophy	MONDO:0018544	http://purl.obolibrary.org/obo/MONDO_0018544	http://www.w3.org/2004/02/skos/core#exactMatch	副腎白質ジストロフィー	adrenoleukodystrophy	https://omim.org/entry/300100	OMIM:300100
NANDO:2200568	ムコリピドーシスIII型	Mucolipidosis III	MONDO:0018931	http://purl.obolibrary.org/obo/MONDO_0018931	http://www.w3.org/2004/02/skos/core#exactMatch	ムコリピドーシスIII型, α／β	mucolipidosis type III, alpha/beta	https://omim.org/entry/252600	OMIM:252600
NANDO:2200495	3-メチルクロトニルCoAカルボキシラーゼ欠損症	3-methylcrotonyl-CoA carboxylase deficiency	MONDO:0018950	http://purl.obolibrary.org/obo/MONDO_0018950	http://www.w3.org/2004/02/skos/core#exactMatch	3-メチルクロトニルCoAカルボキシラーゼ欠損症	3-methylcrotonyl-CoA carboxylase deficiency	https://omim.org/phenotypicSeries/PS210200	OMIMPS:210200
NANDO:2200518	ピルビン酸脱水素酵素複合体欠損症	Pyruvate dehydrogenase complex deficiency	MONDO:0019169	http://purl.obolibrary.org/obo/MONDO_0019169	http://www.w3.org/2004/02/skos/core#exactMatch	ピルビン酸脱水素酵素欠損症	pyruvate dehydrogenase deficiency	https://omim.org/phenotypicSeries/PS312170	OMIMPS:312170
NANDO:2200575	ペルオキシソーム形成異常症	Peroxisome biogenesis disorders	MONDO:0019234	http://purl.obolibrary.org/obo/MONDO_0019234	http://www.w3.org/2004/02/skos/core#exactMatch	ペルオキシソーム形成異常症	peroxisome biogenesis disorder	https://omim.org/phenotypicSeries/PS214100	OMIMPS:214100
NANDO:2200652	ファンコニ貧血	Fanconi anemia	MONDO:0019391	http://purl.obolibrary.org/obo/MONDO_0019391	http://www.w3.org/2004/02/skos/core#exactMatch	ファンコーニ貧血	Fanconi anemia	https://omim.org/phenotypicSeries/PS227650	OMIMPS:227650
NANDO:2200615	先天性赤血球形成異常性貧血	Congenital dyserythropoietic anemia	MONDO:0019403	http://purl.obolibrary.org/obo/MONDO_0019403	http://www.w3.org/2004/02/skos/core#exactMatch	先天性赤血球形成異常性貧血	congenital dyserythropoietic anemia	https://omim.org/phenotypicSeries/PS224120	OMIMPS:224120
NANDO:2200647	新生児同種免疫性血小板減少症	Neonatal alloimmune thrombocytopenia	MONDO:0019415	http://purl.obolibrary.org/obo/MONDO_0019415	http://www.w3.org/2004/02/skos/core#exactMatch	胎児・新生児同種免疫性血小板減少症	fetal and neonatal alloimmune thrombocytopenia	https://omim.org/phenotypicSeries/PS621264	OMIMPS:621264
NANDO:2200756	シュワッハマン・ダイアモンド症候群	Shwachman-Diamond syndrome	MONDO:0009833	http://purl.obolibrary.org/obo/MONDO_0009833	http://www.w3.org/2004/02/skos/core#exactMatch	シュワッハマン・ダイアモンド症候群	Shwachman-Diamond syndrome	https://omim.org/phenotypicSeries/PS260400	OMIMPS:260400
NANDO:2200687	先天性α2-プラスミンインヒビター欠乏症	Alpha-2-plasmin inhibitor deficiency	MONDO:0009883	http://purl.obolibrary.org/obo/MONDO_0009883	http://www.w3.org/2004/02/skos/core#exactMatch	α2プラスミンインヒビター欠損症	alpha-2-plasmin inhibitor deficiency	https://omim.org/entry/262850	OMIM:262850
NANDO:2200695	細網異形成症	Reticular dysgenesis	MONDO:0009973	http://purl.obolibrary.org/obo/MONDO_0009973	http://www.w3.org/2004/02/skos/core#exactMatch	細網異形成症	reticular dysgenesis	https://omim.org/entry/267500	OMIM:267500
NANDO:2200818	裂脳症	Schizencephaly	MONDO:0010011	http://purl.obolibrary.org/obo/MONDO_0010011	http://www.w3.org/2004/02/skos/core#exactMatch	裂脳症	schizencephaly	https://omim.org/entry/269160	OMIM:269160
NANDO:2200700	ZAP-70欠損症	ZAP-70 deficiency	MONDO:0010023	http://purl.obolibrary.org/obo/MONDO_0010023	http://www.w3.org/2004/02/skos/core#exactMatch	ZAP70欠損による複合免疫不全症	combined immunodeficiency due to ZAP70 deficiency	https://omim.org/entry/269840	OMIM:269840
NANDO:2200775	孤立性先天性無脾症	Isolated congenital asplenia	MONDO:0010066	http://purl.obolibrary.org/obo/MONDO_0010066	http://www.w3.org/2004/02/skos/core#exactMatch	家族性孤立性先天性無脾症	familial isolated congenital asplenia	https://omim.org/entry/271400	OMIM:271400
NANDO:2200831	ウェルナー症候群	Werner syndrome	MONDO:0010196	http://purl.obolibrary.org/obo/MONDO_0010196	http://www.w3.org/2004/02/skos/core#exactMatch	ウェルナー症候群	Werner syndrome	https://omim.org/entry/277700	OMIM:277700
NANDO:2200761	免疫不全を伴う無汗性外胚葉形成異常症	Anhidrotic ectodermal dysplasia with immunodeficiency	MONDO:0010293	http://purl.obolibrary.org/obo/MONDO_0010293	http://www.w3.org/2004/02/skos/core#exactMatch	外胚葉形成不全および免疫不全症	ectodermal dysplasia and immune deficiency	https://omim.org/phenotypicSeries/PS300291	OMIMPS:300291
NANDO:2200753	X連鎖好中球減少症	X linked severe congenital neutropenia	MONDO:0010294	http://purl.obolibrary.org/obo/MONDO_0010294	http://www.w3.org/2004/02/skos/core#exactMatch	X連鎖性重症先天性好中球減少症	X-linked severe congenital neutropenia	https://omim.org/entry/300299	OMIM:300299
NANDO:2200694	X連鎖重症複合免疫不全症	X-linked severe combined immunodeficiency	MONDO:0010315	http://purl.obolibrary.org/obo/MONDO_0010315	http://www.w3.org/2004/02/skos/core#exactMatch	γ鎖欠損によるT-B+重症複合免疫不全症	T-B+ severe combined immunodeficiency due to gamma chain deficiency	https://omim.org/entry/300400	OMIM:300400
NANDO:2200716	X連鎖無ガンマグロブリン血症	X-linked agammaglobulinemia	MONDO:0010421	http://purl.obolibrary.org/obo/MONDO_0010421	http://www.w3.org/2004/02/skos/core#exactMatch	ブルトン型無ガンマグロブリン血症	Bruton-type agammaglobulinemia	https://omim.org/entry/300755	OMIM:300755
NANDO:2200704	ウィスコット・オルドリッチ症候群	Wiskott-Aldrich syndrome	MONDO:0010518	http://purl.obolibrary.org/obo/MONDO_0010518	http://www.w3.org/2004/02/skos/core#exactMatch	ウィスコット・オルドリッチ症候群	Wiskott-Aldrich syndrome	https://omim.org/entry/301000	OMIM:301000
NANDO:2200751	Barth症候群	Barth syndrome	MONDO:0010543	http://purl.obolibrary.org/obo/MONDO_0010543	http://www.w3.org/2004/02/skos/core#exactMatch	バース症候群	Barth syndrome	https://omim.org/entry/302060	OMIM:302060
NANDO:2200677	血友病Ｂ	Hemophilia B	MONDO:0010604	http://purl.obolibrary.org/obo/MONDO_0010604	http://www.w3.org/2004/02/skos/core#exactMatch	血友病B	hemophilia B	https://omim.org/entry/306900	OMIM:306900
NANDO:2200789	Properdin 欠損症	Properdin deficiency	MONDO:0010713	http://purl.obolibrary.org/obo/MONDO_0010713	http://www.w3.org/2004/02/skos/core#exactMatch	プロペルジン欠損症, X連鎖性	properdin deficiency, X-linked	https://omim.org/entry/312060	OMIM:312060
NANDO:2200825	レット症候群	Rett syndrome	MONDO:0010726	http://purl.obolibrary.org/obo/MONDO_0010726	http://www.w3.org/2004/02/skos/core#exactMatch	レット症候群	Rett syndrome	https://omim.org/entry/312750	OMIM:312750
NANDO:2200823	巨脳症－毛細血管奇形症候群	Megalencephaly-capillary malformation syndrome	MONDO:0011240	http://purl.obolibrary.org/obo/MONDO_0011240	http://www.w3.org/2004/02/skos/core#exactMatch	巨脳症-毛細血管奇形-多小脳回症候群	megalencephaly-capillary malformation-polymicrogyria syndrome	https://omim.org/entry/602501	OMIM:602501
NANDO:2200730	Syntaxin11欠損症	Syntaxin 11 deficiency	MONDO:0011336	http://purl.obolibrary.org/obo/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://omim.org/entry/603552	OMIM:603552
NANDO:2200728	パーフォリン欠損症	Perforin deficiency	MONDO:0011337	http://purl.obolibrary.org/obo/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://omim.org/entry/603553	OMIM:603553
NANDO:2200697	オーメン症候群	Omenn syndrome	MONDO:0011338	http://purl.obolibrary.org/obo/MONDO_0011338	http://www.w3.org/2004/02/skos/core#exactMatch	オーメン症候群	Omenn syndrome	https://omim.org/entry/603554	OMIM:603554
NANDO:2200749	好中球減少を伴うClericuzio型多形皮膚萎縮症	Clericuzio-type poikiloderma with neutropenia syndrome	MONDO:0011405	http://purl.obolibrary.org/obo/MONDO_0011405	http://www.w3.org/2004/02/skos/core#exactMatch	好中球減少症を伴う多形皮膚萎縮症	poikiloderma with neutropenia	https://omim.org/entry/604173	OMIM:604173
NANDO:2200701	MHCクラスI欠損症	MHC class I deficiency	MONDO:0011476	http://purl.obolibrary.org/obo/MONDO_0011476	http://www.w3.org/2004/02/skos/core#exactMatch	MHCクラスI欠損症	MHC class I deficiency	https://omim.org/phenotypicSeries/PS604571	OMIMPS:604571
NANDO:2200736	CD25欠損症	Immunodeficiency 41 with lymphoproliferation and autoimmunity	MONDO:0011664	http://purl.obolibrary.org/obo/MONDO_0011664	http://www.w3.org/2004/02/skos/core#exactMatch	CD25欠損による免疫不全症	immunodeficiency due to CD25 deficiency	https://omim.org/entry/606367	OMIM:606367
NANDO:2200740	カスペース8欠損症	Caspase-8 deficiency	MONDO:0011804	http://purl.obolibrary.org/obo/MONDO_0011804	http://www.w3.org/2004/02/skos/core#exactMatch	自己免疫性リンパ増殖症候群2B型	autoimmune lymphoproliferative syndrome type 2B	https://omim.org/entry/607271	OMIM:607271
NANDO:2200732	Griscelli症候群2型	Griscelli syndrome type 2	MONDO:0011872	http://purl.obolibrary.org/obo/MONDO_0011872	http://www.w3.org/2004/02/skos/core#exactMatch	グリセリ症候群2型	Griscelli syndrome type 2	https://omim.org/entry/607624	OMIM:607624
NANDO:2200762	IRAK4欠損症	IRAK4 deficiency	MONDO:0011888	http://purl.obolibrary.org/obo/MONDO_0011888	http://www.w3.org/2004/02/skos/core#exactMatch	免疫不全症67	immunodeficiency 67	https://omim.org/entry/607676	OMIM:607676
NANDO:2200744	SPENCDI	Spondylo enchondro-dysplasiawith immune dysregulation	MONDO:0011939	http://purl.obolibrary.org/obo/MONDO_0011939	http://www.w3.org/2004/02/skos/core#exactMatch	免疫調節障害を伴う 脊椎内軟骨異形成症	Spondyloenchondrodysplasia with immune dysregulation	https://omim.org/entry/607944	OMIM:607944
NANDO:2200733	Hermansky-Pudlak症候群2型	Hermansky-Pudlak syndrome type 2	MONDO:0011997	http://purl.obolibrary.org/obo/MONDO_0011997	http://www.w3.org/2004/02/skos/core#exactMatch	ヘルマンスキー・パドラック症候群2	Hermansky-Pudlak syndrome 2	https://omim.org/entry/608233	OMIM:608233
NANDO:2200729	UNC13D/Munc13-4欠損症	UNC13D/Munc13-4 deficiency	MONDO:0012146	http://purl.obolibrary.org/obo/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://omim.org/entry/608898	OMIM:608898
NANDO:2200699	CD8欠損症	CD8 deficiency	MONDO:0012161	http://purl.obolibrary.org/obo/MONDO_0012161	http://www.w3.org/2004/02/skos/core#exactMatch	CD8α鎖変異に関連する呼吸器感染に対する感受性	susceptibility to respiratory infections associated with CD8alpha chain mutation	https://omim.org/entry/608957	OMIM:608957
NANDO:2200783	C5 欠損症	C5 deficiency	MONDO:0012295	http://purl.obolibrary.org/obo/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://omim.org/entry/609536	OMIM:609536
NANDO:2200791	Factor H 欠損症	Factor H deficiency	MONDO:0012350	http://purl.obolibrary.org/obo/MONDO_0012350	http://www.w3.org/2004/02/skos/core#exactMatch	H因子欠損症	complement factor H deficiency	https://omim.org/entry/609814	OMIM:609814
NANDO:2200771	MCM4遺伝子異常症	MCM4 mutation	MONDO:0012383	http://purl.obolibrary.org/obo/MONDO_0012383	http://www.w3.org/2004/02/skos/core#exactMatch	ナチュラルキラー細胞細胞欠損および副腎機能不全を伴う原発性免疫不全症	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	https://omim.org/entry/609981	OMIM:609981
NANDO:2200785	C7 欠損症	C7 deficiency	MONDO:0012412	http://purl.obolibrary.org/obo/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://omim.org/entry/610102	OMIM:610102
NANDO:2200752	P14欠損症	P14 deficiency	MONDO:0012559	http://purl.obolibrary.org/obo/MONDO_0012559	http://www.w3.org/2004/02/skos/core#exactMatch	p14欠損による原発性免疫不全症候群	primary immunodeficiency syndrome due to p14 deficiency	https://omim.org/entry/610798	OMIM:610798
NANDO:2200790	Factor I 欠損症	Factor In deficiency	MONDO:0012594	http://purl.obolibrary.org/obo/MONDO_0012594	http://www.w3.org/2004/02/skos/core#exactMatch	I因子欠損症	complement factor I deficiency	https://omim.org/entry/610984	OMIM:610984
NANDO:2200710	RIDDLE症候群	RIDDLE syndrome	MONDO:0012764	http://purl.obolibrary.org/obo/MONDO_0012764	http://www.w3.org/2004/02/skos/core#exactMatch	RIDDLE症候群	RIDDLE syndrome	https://omim.org/entry/611943	OMIM:611943
NANDO:2200763	MyD88欠損症	MyD88 deficiency	MONDO:0012839	http://purl.obolibrary.org/obo/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://omim.org/entry/612260	OMIM:612260
NANDO:2200804	CD59欠損症	Primary CD59 deficiency	MONDO:0012858	http://purl.obolibrary.org/obo/MONDO_0012858	http://www.w3.org/2004/02/skos/core#exactMatch	原発性CD59欠損症	primary CD59 deficiency	https://omim.org/entry/612300	OMIM:612300
NANDO:2200684	先天性プレカリクレイン欠乏症	Congenital prekallikrein deficiency	MONDO:0012901	http://purl.obolibrary.org/obo/MONDO_0012901	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性プレカリクレイン欠乏症	inherited prekallikrein deficiency	https://omim.org/entry/612423	OMIM:612423
NANDO:2200784	C6 欠損症	C6 deficiency	MONDO:0012908	http://purl.obolibrary.org/obo/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://omim.org/entry/612446	OMIM:612446
NANDO:2200803	CD46欠損症	CD46 deficiency	MONDO:0013040	http://purl.obolibrary.org/obo/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://omim.org/entry/612922	OMIM:612922
NANDO:2200734	ITK欠損症	IL-2-inducible T-cell kinase deficiency	MONDO:0013081	http://purl.obolibrary.org/obo/MONDO_0013081	http://www.w3.org/2004/02/skos/core#exactMatch	リンパ増殖性症候群1	lymphoproliferative syndrome 1	https://omim.org/entry/613011	OMIM:613011
NANDO:2200731	STXBP2/Munc18-2欠損症	STXBP2/Munc18-2 deficiency	MONDO:0013135	http://purl.obolibrary.org/obo/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://omim.org/entry/613101	OMIM:613101
NANDO:2200698	プリンヌクレオシドホスホリラーゼ欠損症	Purine nucleoside phosphorylase deficiency	MONDO:0013171	http://purl.obolibrary.org/obo/MONDO_0013171	http://www.w3.org/2004/02/skos/core#exactMatch	プリンヌクレオシドホスホリラーゼ欠損症	purine nucleoside phosphorylase deficiency	https://omim.org/entry/613179	OMIM:613179
NANDO:2200688	先天性プラスミノゲンアクチベータインヒビター1欠乏症	Congenital plasminogen activator inhibitor-1 deficiency	MONDO:0013227	http://purl.obolibrary.org/obo/MONDO_0013227	http://www.w3.org/2004/02/skos/core#exactMatch	先天性プラスミノーゲン活性化阻害因子1型欠損症	congenital plasminogen activator inhibitor type 1 deficiency	https://omim.org/entry/613329	OMIM:613329
NANDO:2200739	ITCH欠損症	Syndromic multisystem autoimmune disease due to Itch deficiency	MONDO:0013245	http://purl.obolibrary.org/obo/MONDO_0013245	http://www.w3.org/2004/02/skos/core#exactMatch	ITCH欠損による症候性多臓器自己免疫疾患	syndromic multisystem autoimmune disease due to ITCH deficiency	https://omim.org/entry/613385	OMIM:613385
NANDO:2200777	C1q 欠損症	C1q deficiency	MONDO:0013343	http://purl.obolibrary.org/obo/MONDO_0013343	http://www.w3.org/2004/02/skos/core#exactMatch	C1q欠損症	C1Q deficiency	https://omim.org/phenotypicSeries/PS613652	OMIMPS:613652
NANDO:2200741	FADD欠損症	Fas-associated death domain protein deficiency	MONDO:0013408	http://purl.obolibrary.org/obo/MONDO_0013408	http://www.w3.org/2004/02/skos/core#exactMatch	FADD関連免疫不全症	FADD-related immunodeficiency	https://omim.org/entry/613759	OMIM:613759
NANDO:2200782	C3 欠損症	C3 deficiency	MONDO:0013417	http://purl.obolibrary.org/obo/MONDO_0013417	http://www.w3.org/2004/02/skos/core#exactMatch	補体第3成分欠損症	complement component 3 deficiency	https://omim.org/entry/613779	OMIM:613779
NANDO:2200779	C1s 欠損症	C1s deficiency	MONDO:0013419	http://purl.obolibrary.org/obo/MONDO_0013419	http://www.w3.org/2004/02/skos/core#exactMatch	補体成分C1s欠損症	complement component C1s deficiency	https://omim.org/entry/613783	OMIM:613783
NANDO:2200793	MASP2 欠損症	MASP2 deficiency	MONDO:0013423	http://purl.obolibrary.org/obo/MONDO_0013423	http://www.w3.org/2004/02/skos/core#exactMatch	MASP2欠損による免疫不全症	immunodeficiency due to MASP-2 deficiency	https://omim.org/entry/613791	OMIM:613791
NANDO:2200787	C9 欠損症	C9 deficiency	MONDO:0013445	http://purl.obolibrary.org/obo/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://omim.org/entry/613825	OMIM:613825
NANDO:2200794	Ficolin3 関連免疫不全症	Ficolin 3 Deficiency	MONDO:0013467	http://purl.obolibrary.org/obo/MONDO_0013467	http://www.w3.org/2004/02/skos/core#exactMatch	フィコリン3関連免疫不全症	immunodeficiency due to ficolin3 deficiency	https://omim.org/entry/613860	OMIM:613860
NANDO:2200788	Factor D 欠損症	Factor D deficiency	MONDO:0013487	http://purl.obolibrary.org/obo/MONDO_0013487	http://www.w3.org/2004/02/skos/core#exactMatch	D因子欠損によるナイセリア反復感染	recurrent Neisseria infections due to factor D deficiency	https://omim.org/entry/613912	OMIM:613912
NANDO:2200719	IgGサブクラス欠損症	Isolated IgG subclass deficiency	MONDO:0013576	http://purl.obolibrary.org/obo/MONDO_0013576	http://www.w3.org/2004/02/skos/core#exactMatch	希少免疫グロブリンアイソタイプ欠乏に関連する反復感染	recurrent infections associated with rare immunoglobulin isotypes deficiency	https://omim.org/entry/614102	OMIM:614102
NANDO:2200801	CR2欠損症	CD21 deficiency	MONDO:0013862	http://purl.obolibrary.org/obo/MONDO_0013862	http://www.w3.org/2004/02/skos/core#exactMatch	免疫不全症, 分類不能型, 7	immunodeficiency, common variable, 7	https://omim.org/entry/614699	OMIM:614699
NANDO:2200797	B因子欠損症	Factor B deficiency	MONDO:0014255	http://purl.obolibrary.org/obo/MONDO_0014255	http://www.w3.org/2004/02/skos/core#exactMatch	B因子欠損症	complement factor b deficiency	https://omim.org/entry/615561	OMIM:615561
NANDO:2200766	HOIL1欠損症	HOIL-1 deficiency	MONDO:0014389	http://purl.obolibrary.org/obo/MONDO_0014389	http://www.w3.org/2004/02/skos/core#exactMatch	免疫不全を伴うまたは伴わないポリグルコサン小体ミオパチー1	polyglucosan body myopathy 1 with or without immunodeficiency	https://omim.org/entry/615895	OMIM:615895
NANDO:2200770	STAT2欠損症	STAT2 deficiency	MONDO:0014715	http://purl.obolibrary.org/obo/MONDO_0014715	http://www.w3.org/2004/02/skos/core#exactMatch	麻疹・ムンプス・風疹ワクチン後ウイルス感染を伴う原発性免疫不全症	primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	https://omim.org/entry/616636	OMIM:616636
NANDO:2200764	慢性皮膚粘膜カンジダ症	Chronic mucocutaneous candidiasis	MONDO:0015279	http://purl.obolibrary.org/obo/MONDO_0015279	http://www.w3.org/2004/02/skos/core#exactMatch	慢性皮膚粘膜カンジダ症	chronic mucocutaneous candidiasis	https://omim.org/phenotypicSeries/PS114580	OMIMPS:114580
NANDO:2200717	分類不能型免疫不全症	Common variable immunodeficiency	MONDO:0015517	http://purl.obolibrary.org/obo/MONDO_0015517	http://www.w3.org/2004/02/skos/core#exactMatch	分類不能型免疫不全症	common variable immunodeficiency	https://omim.org/phenotypicSeries/PS607594	OMIMPS:607594
NANDO:2200715	先天性角化異常症	Dyskeratosis congenita	MONDO:0015780	http://purl.obolibrary.org/obo/MONDO_0015780	http://www.w3.org/2004/02/skos/core#exactMatch	先天性角化異常症	dyskeratosis congenita	https://omim.org/phenotypicSeries/PS127550	OMIMPS:127550
NANDO:2200693	再生不良性貧血	Aplastic anemia	MONDO:0015909	http://purl.obolibrary.org/obo/MONDO_0015909	http://www.w3.org/2004/02/skos/core#exactMatch	再生不良性貧血	aplastic anemia	https://omim.org/entry/609135	OMIM:609135
NANDO:2200819	全前脳胞症	Holoprosencephaly	MONDO:0016296	http://purl.obolibrary.org/obo/MONDO_0016296	http://www.w3.org/2004/02/skos/core#exactMatch	全前脳症	holoprosencephaly	https://omim.org/phenotypicSeries/PS236100	OMIMPS:236100
NANDO:2200822	先天性水頭症	Congenital hydrocephalus	MONDO:0016349	http://purl.obolibrary.org/obo/MONDO_0016349	http://www.w3.org/2004/02/skos/core#exactMatch	先天性水頭症	congenital hydrocephalus	https://omim.org/phenotypicSeries/PS236600	OMIMPS:236600
NANDO:2200792	3MC 症候群	Malpuech-Michels-Mingarelli-Carnevale syndrome	MONDO:0017398	http://purl.obolibrary.org/obo/MONDO_0017398	http://www.w3.org/2004/02/skos/core#exactMatch	3MC症候群	3MC syndrome	https://omim.org/phenotypicSeries/PS257920	OMIMPS:257920
NANDO:2200713	高IgE症候群	Hyper-IgE syndrome	MONDO:0018037	http://purl.obolibrary.org/obo/MONDO_0018037	http://www.w3.org/2004/02/skos/core#exactMatch	高IgE症候群	hyper-IgE syndrome	https://omim.org/phenotypicSeries/PS147060	OMIMPS:147060
NANDO:2200757	慢性肉芽腫症	Chronic granulomatous disease	MONDO:0018305	http://purl.obolibrary.org/obo/MONDO_0018305	http://www.w3.org/2004/02/skos/core#exactMatch	慢性肉芽腫症	chronic granulomatous disease	https://omim.org/phenotypicSeries/PS306400	OMIMPS:306400
NANDO:2200745	重症先天性好中球減少症	Severe congenital neutropenia	MONDO:0018542	http://purl.obolibrary.org/obo/MONDO_0018542	http://www.w3.org/2004/02/skos/core#exactMatch	重症先天性好中球減少症	severe congenital neutropenia	https://omim.org/phenotypicSeries/PS202700	OMIMPS:202700
NANDO:2200817	滑脳症	Lissencephaly	MONDO:0018838	http://purl.obolibrary.org/obo/MONDO_0018838	http://www.w3.org/2004/02/skos/core#exactMatch	滑脳症スペクトラム障害	lissencephaly spectrum disorders	https://omim.org/phenotypicSeries/PS607432	OMIMPS:607432
NANDO:2200880	ウンフェルリヒト・ルントボルク病	Unverricht-Lundborg disease	MONDO:0009698	http://purl.obolibrary.org/obo/MONDO_0009698	http://www.w3.org/2004/02/skos/core#exactMatch	ウンフェルリヒト・ルントボルグ病	Unverricht-Lundborg syndrome	https://omim.org/entry/254800	OMIM:254800
NANDO:2200872	ミニコア病	Minicore myopathy	MONDO:0009712	http://purl.obolibrary.org/obo/MONDO_0009712	http://www.w3.org/2004/02/skos/core#exactMatch	外眼筋麻痺を伴う先天性多発コアミオパチー	congenital multicore myopathy with external ophthalmoplegia	https://omim.org/entry/255320	OMIM:255320
NANDO:2200854	先天性無痛無汗症	Congenital insensitivity to pain with anhidrosis	MONDO:0009746	http://purl.obolibrary.org/obo/MONDO_0009746	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性感覚・自律性神経性ニューロパチー4型	hereditary sensory and autonomic neuropathy type 4	https://omim.org/entry/256800	OMIM:256800
NANDO:2200899	亜急性硬化性全脳炎	Subacute sclerosing panencephalitis	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	http://www.w3.org/2004/02/skos/core#exactMatch	亜急性硬化性全脳炎	subacute sclerosing panencephalitis	https://omim.org/entry/260470	OMIM:260470
NANDO:2200979	スミス・レムリ・オピッツ症候群	Smith-Lemli-Opitz syndrome	MONDO:0010035	http://purl.obolibrary.org/obo/MONDO_0010035	http://www.w3.org/2004/02/skos/core#exactMatch	スミス・レムリ・オピッツ症候群	Smith-Lemli-Opitz syndrome	https://omim.org/entry/270400	OMIM:270400
NANDO:2200834	カナバン病	Canavan disease	MONDO:0010079	http://purl.obolibrary.org/obo/MONDO_0010079	http://www.w3.org/2004/02/skos/core#exactMatch	カドミウム中毒	Canavan disease	https://omim.org/entry/271900	OMIM:271900
NANDO:2200957	ウィーバー症候群	Weaver syndrome	MONDO:0010193	http://purl.obolibrary.org/obo/MONDO_0010193	http://www.w3.org/2004/02/skos/core#exactMatch	ウィーバー症候群	Weaver syndrome	https://omim.org/entry/277590	OMIM:277590
NANDO:2200984	MECP2重複症候群	MECP2 duplication syndrome	MONDO:0010283	http://purl.obolibrary.org/obo/MONDO_0010283	http://www.w3.org/2004/02/skos/core#exactMatch	症候性X連鎖性知的障害Lubs型	syndromic X-linked intellectual disability Lubs type	https://omim.org/entry/300260	OMIM:300260
NANDO:2200865	ベッカー型筋ジストロフィー	Becker muscular dystrophy	MONDO:0010311	http://purl.obolibrary.org/obo/MONDO_0010311	http://www.w3.org/2004/02/skos/core#exactMatch	ベッカー型筋ジストロフィー	Becker muscular dystrophy	https://omim.org/entry/300376	OMIM:300376
NANDO:2200840	脆弱Ｘ症候群	Fragile X syndrome	MONDO:0010383	http://purl.obolibrary.org/obo/MONDO_0010383	http://www.w3.org/2004/02/skos/core#exactMatch	脆弱X症候群	fragile X syndrome	https://omim.org/entry/300624	OMIM:300624
NANDO:2200839	ATR-X症候群	ATR-X syndrome	MONDO:0010519	http://purl.obolibrary.org/obo/MONDO_0010519	http://www.w3.org/2004/02/skos/core#exactMatch	アルファサラセミア-X連鎖性知的障害症候群	alpha thalassemia-X-linked intellectual disability syndrome	https://omim.org/entry/301040	OMIM:301040
NANDO:2200952	コフィン・ローリー症候群	Coffin-Lowry syndrome	MONDO:0010561	http://purl.obolibrary.org/obo/MONDO_0010561	http://www.w3.org/2004/02/skos/core#exactMatch	コフィン・ローリー症候群	Coffin-Lowry syndrome	https://omim.org/entry/303600	OMIM:303600
NANDO:2200924	IPEX症候群	IPEX syndrome	MONDO:0010580	http://purl.obolibrary.org/obo/MONDO_0010580	http://www.w3.org/2004/02/skos/core#exactMatch	X連鎖免疫調節障害・多発性内分泌障害腸症候群	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	https://omim.org/entry/304790	OMIM:304790
NANDO:2200974	色素失調症	Incontinentia pigmenti	MONDO:0010631	http://purl.obolibrary.org/obo/MONDO_0010631	http://www.w3.org/2004/02/skos/core#exactMatch	色素失調症	incontinentia pigmenti	https://omim.org/entry/308300	OMIM:308300
NANDO:2200856	デュシェンヌ型筋ジストロフィー	Duchenne muscular dystrophy	MONDO:0010679	http://purl.obolibrary.org/obo/MONDO_0010679	http://www.w3.org/2004/02/skos/core#exactMatch	デュシェンヌ型筋ジストロフィー	Duchenne muscular dystrophy	https://omim.org/entry/310200	OMIM:310200
NANDO:2200919	周期性嘔吐症候群	Cyclic vomiting syndrome	MONDO:0010778	http://purl.obolibrary.org/obo/MONDO_0010778	http://www.w3.org/2004/02/skos/core#exactMatch	周期性嘔吐症候群	cyclic vomiting syndrome	https://omim.org/entry/500007	OMIM:500007
NANDO:2200982	ヤング・シンプソン症候群	Young-Simpson syndrome	MONDO:0011365	http://purl.obolibrary.org/obo/MONDO_0011365	http://www.w3.org/2004/02/skos/core#exactMatch	瞼裂狭小-知的障害症候群, SBBYS型	blepharophimosis - intellectual disability syndrome, SBBYS type	https://omim.org/entry/603736	OMIM:603736
NANDO:2200909	先天性グルコース・ガラクトース吸収不良症	Glucose-galactose malabsorption	MONDO:0011731	http://purl.obolibrary.org/obo/MONDO_0011731	http://www.w3.org/2004/02/skos/core#exactMatch	グルコース・ガラクトース吸収不良症	glucose-galactose malabsorption	https://omim.org/entry/606824	OMIM:606824
NANDO:2200861	メロシン欠損型先天性筋ジストロフィー	Merosin-deficient congenital muscular dystrophy	MONDO:0011925	http://purl.obolibrary.org/obo/MONDO_0011925	http://www.w3.org/2004/02/skos/core#exactMatch	メロシン欠損型先天性筋ジストロフィー1A	congenital merosin-deficient muscular dystrophy 1A	https://omim.org/entry/607855	OMIM:607855
NANDO:2200894	RNASEH2B欠損症	Aicardi-Goutieres syndrome 2	MONDO:0012429	http://purl.obolibrary.org/obo/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://omim.org/entry/610181	OMIM:610181
NANDO:2200895	RNASEH2C欠損症	Aicardi-Goutieres syndrome 3	MONDO:0012471	http://purl.obolibrary.org/obo/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://omim.org/entry/610329	OMIM:610329
NANDO:2200897	SAMHD1欠損症	Aicardi-Goutieres syndrome 5	MONDO:0013059	http://purl.obolibrary.org/obo/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://omim.org/entry/612952	OMIM:612952
NANDO:2200866	LMNA遺伝子変異型筋ジストロフィー	LMNA-related congenital muscular dystrophy	MONDO:0013178	http://purl.obolibrary.org/obo/MONDO_0013178	http://www.w3.org/2004/02/skos/core#exactMatch	LMNA遺伝子変異による先天性筋ジストロフィー	congenital muscular dystrophy due to LMNA mutation	https://omim.org/entry/613205	OMIM:613205
NANDO:2200929	原発性硬化性胆管炎	Primary sclerosing cholangitis	MONDO:0013433	http://purl.obolibrary.org/obo/MONDO_0013433	http://www.w3.org/2004/02/skos/core#exactMatch	原発性硬化性胆管炎	primary sclerosing cholangitis	https://omim.org/entry/613806	OMIM:613806
NANDO:2200912	リパーゼ欠損症	Lipase deficiency	MONDO:0013700	http://purl.obolibrary.org/obo/MONDO_0013700	http://www.w3.org/2004/02/skos/core#exactMatch	膵トリアシルグリセロールリパーゼ欠損症	pancreatic triacylglycerol lipase deficiency	https://omim.org/entry/614338	OMIM:614338
NANDO:2200898	ADAR1欠損症	Aicardi-Goutieres syndrome 6	MONDO:0014007	http://purl.obolibrary.org/obo/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://omim.org/entry/615010	OMIM:615010
NANDO:2200985	武内・小崎症候群	Takenouchi-Kosaki syndrome	MONDO:0014757	http://purl.obolibrary.org/obo/MONDO_0014757	http://www.w3.org/2004/02/skos/core#exactMatch	巨大血小板性血小板減少症-リンパ浮腫-発達遅滞-顔面異形-屈指症候群	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	https://omim.org/entry/616737	OMIM:616737
NANDO:2200967	CFC症候群	CFC Syndrome	MONDO:0015280	http://purl.obolibrary.org/obo/MONDO_0015280	http://www.w3.org/2004/02/skos/core#exactMatch	心顔面皮膚症候群	cardiofaciocutaneous syndrome	https://omim.org/phenotypicSeries/PS115150	OMIMPS:115150
NANDO:2200977	コフィン・シリス症候群	Coffin-Siris syndrome	MONDO:0015452	http://purl.obolibrary.org/obo/MONDO_0015452	http://www.w3.org/2004/02/skos/core#exactMatch	コフィン・シリス症候群	Coffin-Siris syndrome	https://omim.org/phenotypicSeries/PS135900	OMIMPS:135900
NANDO:2200933	進行性家族性肝内胆汁うっ滞症	Progressive familial intrahepatic cholestasis	MONDO:0015762	http://purl.obolibrary.org/obo/MONDO_0015762	http://www.w3.org/2004/02/skos/core#exactMatch	進行性家族性肝内胆汁うっ滞	progressive familial intrahepatic cholestasis	https://omim.org/phenotypicSeries/PS211600	OMIMPS:211600
NANDO:2200958	コルネリア・デランゲ症候群	Cornelia de Lange syndrome	MONDO:0016033	http://purl.obolibrary.org/obo/MONDO_0016033	http://www.w3.org/2004/02/skos/core#exactMatch	コルネリアデランゲ症候群	Cornelia de Lange syndrome	https://omim.org/phenotypicSeries/PS122470	OMIMPS:122470
NANDO:2200918	カウデン症候群	Cowden syndrome	MONDO:0016063	http://purl.obolibrary.org/obo/MONDO_0016063	http://www.w3.org/2004/02/skos/core#exactMatch	カウデン病	Cowden disease	https://omim.org/phenotypicSeries/PS158350	OMIMPS:158350
NANDO:2200864	筋強直性ジストロフィー	Myotonic dystrophy	MONDO:0016107	http://purl.obolibrary.org/obo/MONDO_0016107	http://www.w3.org/2004/02/skos/core#exactMatch	筋強直性ジストロフィー	myotonic dystrophy	https://omim.org/phenotypicSeries/PS160900	OMIMPS:160900
NANDO:2200883	小児交互性片麻痺	Alternating hemiplegia of childhood	MONDO:0016241	http://purl.obolibrary.org/obo/MONDO_0016241	http://www.w3.org/2004/02/skos/core#exactMatch	小児交互性片麻痺	alternating hemiplegia of childhood	https://omim.org/phenotypicSeries/PS104290	OMIMPS:104290
NANDO:2200956	歌舞伎症候群	Kabuki syndrome	MONDO:0016512	http://purl.obolibrary.org/obo/MONDO_0016512	http://www.w3.org/2004/02/skos/core#exactMatch	歌舞伎症候群	Kabuki syndrome	https://omim.org/phenotypicSeries/PS147920	OMIMPS:147920
NANDO:2200879	レノックス・ガストー症候群	Lennox-Gastaut syndrome	MONDO:0016532	http://purl.obolibrary.org/obo/MONDO_0016532	http://www.w3.org/2004/02/skos/core#exactMatch	レノックス・ガストー症候群	Lennox-Gastaut syndrome	https://omim.org/entry/606369	OMIM:606369
NANDO:2200850	もやもや病	Moyamoya disease	MONDO:0016820	http://purl.obolibrary.org/obo/MONDO_0016820	http://www.w3.org/2004/02/skos/core#exactMatch	もやもや病	Moyamoya disease	https://omim.org/phenotypicSeries/PS252350	OMIMPS:252350
NANDO:2200857	エメリー・ドレイフス型筋ジストロフィー	Emery-Dreifuss muscular dystrophy	MONDO:0016830	http://purl.obolibrary.org/obo/MONDO_0016830	http://www.w3.org/2004/02/skos/core#exactMatch	エメリー・ドレイフス型筋ジストロフィー	Emery-Dreifuss muscular dystrophy	https://omim.org/phenotypicSeries/PS310300	OMIMPS:310300
NANDO:2200916	若年性ポリポーシス	Juvenile polyposis	MONDO:0017380	http://purl.obolibrary.org/obo/MONDO_0017380	http://www.w3.org/2004/02/skos/core#exactMatch	若年性ポリポーシス症候群	juvenile polyposis syndrome	https://omim.org/entry/174900	OMIM:174900
NANDO:2200945	ヒルシュスプルング病	Hirschsprung disease	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	http://www.w3.org/2004/02/skos/core#exactMatch	ヒルシュスプルング病	Hirschsprung disease	https://omim.org/phenotypicSeries/PS142623	OMIMPS:142623
NANDO:2200893	エカルディ・グティエール症候群	Aicardi-Goutières Syndrome	MONDO:0018866	http://purl.obolibrary.org/obo/MONDO_0018866	http://www.w3.org/2004/02/skos/core#exactMatch	アイカルディ・ゴーティエ症候群	Aicardi-Goutieres syndrome	https://omim.org/phenotypicSeries/PS225750	OMIMPS:225750
NANDO:2200986	眼皮膚白皮症	Oculocutaneous albinism	MONDO:0018910	http://purl.obolibrary.org/obo/MONDO_0018910	http://www.w3.org/2004/02/skos/core#exactMatch	眼皮膚白皮症	oculocutaneous albinism	https://omim.org/phenotypicSeries/PS203100	OMIMPS:203100
NANDO:2200969	ロイス・ディーツ症候群	Loeys-Dietz syndrome	MONDO:0018954	http://purl.obolibrary.org/obo/MONDO_0018954	http://www.w3.org/2004/02/skos/core#exactMatch	ロイス・ディーツ症候群	Loeys-Dietz syndrome	https://omim.org/phenotypicSeries/PS609192	OMIMPS:609192
NANDO:2200869	ネマリンミオパチー	Nemaline myopathy	MONDO:0018958	http://purl.obolibrary.org/obo/MONDO_0018958	http://www.w3.org/2004/02/skos/core#exactMatch	ネマリンミオパチー	nemaline myopathy	https://omim.org/phenotypicSeries/PS256030	OMIMPS:256030
NANDO:2200847	Carpenter症候群	Carpenter syndrome	MONDO:0019012	http://purl.obolibrary.org/obo/MONDO_0019012	http://www.w3.org/2004/02/skos/core#exactMatch	カーペンター症候群	Carpenter syndrome	https://omim.org/phenotypicSeries/PS201000	OMIMPS:201000
NANDO:2200836	先天性大脳白質形成不全症	Congenital hypomyelinating leukodystrophy	MONDO:0019046	http://purl.obolibrary.org/obo/MONDO_0019046	http://www.w3.org/2004/02/skos/core#exactMatch	先天性大脳白質形成不全症	leukodystrophy	https://omim.org/phenotypicSeries/PS312080	OMIMPS:312080
NANDO:2200955	ルビンシュタイン・テイビ症候群	Rubinstein-Taybi syndrome	MONDO:0019188	http://purl.obolibrary.org/obo/MONDO_0019188	http://www.w3.org/2004/02/skos/core#exactMatch	ルビンシュタイン・テイビ症候群	Rubinstein-Taybi syndrome	https://omim.org/phenotypicSeries/PS180849	OMIMPS:180849
NANDO:2200953	ソトス症候群	Sotos syndrome	MONDO:0019349	http://purl.obolibrary.org/obo/MONDO_0019349	http://www.w3.org/2004/02/skos/core#exactMatch	ソトス症候群	Sotos syndrome	https://omim.org/entry/117550	OMIM:117550
NANDO:2200993	ネザートン症候群	Netherton syndrome	MONDO:0009735	http://purl.obolibrary.org/obo/MONDO_0009735	http://www.w3.org/2004/02/skos/core#exactMatch	ネザートン症候群	Netherton syndrome	https://omim.org/entry/256500	OMIM:256500
NANDO:2201192	シアリドーシスII型	Sialidosis type 2	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	http://www.w3.org/2004/02/skos/core#exactMatch	シアリドーシス2型	sialidosis type 2	https://omim.org/entry/256150	OMIM:256150
NANDO:2201192	シアリドーシスII型	Sialidosis type 2	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	http://www.w3.org/2004/02/skos/core#exactMatch	シアリドーシス2型	sialidosis type 2	https://omim.org/entry/256550	OMIM:256550
NANDO:2201206	ニーマン・ピック病A型	Niemann-Pick disease type A	MONDO:0009756	http://purl.obolibrary.org/obo/MONDO_0009756	http://www.w3.org/2004/02/skos/core#exactMatch	ニーマン・ピック病A型	Niemann-Pick disease type A	https://omim.org/entry/257200	OMIM:257200
NANDO:2201165	糖原病IXb型	Glycogen storage disease type IXb	MONDO:0009868	http://purl.obolibrary.org/obo/MONDO_0009868	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病IXb	glycogen storage disease IXb	https://omim.org/entry/261750	OMIM:261750
NANDO:2201163	成人型糖原病IV型	Glycogen storage disease type IV, adult form	MONDO:0009897	http://purl.obolibrary.org/obo/MONDO_0009897	http://www.w3.org/2004/02/skos/core#exactMatch	成人型ポリグルコサン小体病	adult polyglucosan body disease	https://omim.org/entry/263570	OMIM:263570
NANDO:2201268	先天性骨髄性ポルフィリン症	Congenital erythropoietic porphyria	MONDO:0009902	http://purl.obolibrary.org/obo/MONDO_0009902	http://www.w3.org/2004/02/skos/core#exactMatch	皮膚ポルフィリン症	cutaneous porphyria	https://omim.org/entry/263700	OMIM:263700
NANDO:2201023	濃化異骨症	Pycnodysostosis	MONDO:0009940	http://purl.obolibrary.org/obo/MONDO_0009940	http://www.w3.org/2004/02/skos/core#exactMatch	濃化異骨症	pycnodysostosis	https://omim.org/entry/265800	OMIM:265800
NANDO:2201200	サンドホフ病	Sandhoff disease	MONDO:0010006	http://purl.obolibrary.org/obo/MONDO_0010006	http://www.w3.org/2004/02/skos/core#exactMatch	サンドホフ病	Sandhoff disease	https://omim.org/entry/268800	OMIM:268800
NANDO:2201237	乳児型遊離シアル酸蓄積症	Infantile free sialic acid storage disease	MONDO:0010027	http://purl.obolibrary.org/obo/MONDO_0010027	http://www.w3.org/2004/02/skos/core#exactMatch	遊離シアル酸蓄積症, 乳児型	free sialic acid storage disease, infantile form	https://omim.org/entry/269920	OMIM:269920
NANDO:2200994	シェーグレン・ラルソン症候群	Sjögren-Larsson syndrome	MONDO:0010031	http://purl.obolibrary.org/obo/MONDO_0010031	http://www.w3.org/2004/02/skos/core#exactMatch	シェーグレン・ラルソン症候群	Sjogren-Larsson syndrome	https://omim.org/entry/270200	OMIM:270200
NANDO:2201201	AB型GM2ガングリオシドーシス	GM2 gangliosidosis AB variant	MONDO:0010099	http://purl.obolibrary.org/obo/MONDO_0010099	http://www.w3.org/2004/02/skos/core#exactMatch	テイ・サックス病AB変異体	Tay-Sachs disease AB variant	https://omim.org/entry/272750	OMIM:272750
NANDO:2201199	テイ・サックス病	Tay-Sachs disease	MONDO:0010100	http://purl.obolibrary.org/obo/MONDO_0010100	http://www.w3.org/2004/02/skos/core#exactMatch	テイ・サックス病	Tay-Sachs disease	https://omim.org/entry/272800	OMIM:272800
NANDO:2200997	ドルフマン・シャナリン症候群	Dorfman-Chanarin syndrome	MONDO:0010155	http://purl.obolibrary.org/obo/MONDO_0010155	http://www.w3.org/2004/02/skos/core#exactMatch	ドルフマン・シャナリン症候群	Dorfman-Chanarin disease	https://omim.org/entry/275630	OMIM:275630
NANDO:2201110	コバラミン代謝異常 cblF	Methylmalonic acidemia and homocystinuria cblF type	MONDO:0010183	http://purl.obolibrary.org/obo/MONDO_0010183	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸尿症およびホモシスチン尿症cblF型	methylmalonic aciduria and homocystinuria type cblF	https://omim.org/entry/277380	OMIM:277380
NANDO:2201107	コバラミン代謝異常 cblC	Methylmalonic aciduria and homocystinuria, cblC type	MONDO:0010184	http://purl.obolibrary.org/obo/MONDO_0010184	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸尿症およびホモシスチン尿症cblC型	methylmalonic aciduria and homocystinuria type cblC	https://omim.org/entry/277400	OMIM:277400
NANDO:2201108	コバラミン代謝異常 cblD	Methylmalonic acidemia CblD type	MONDO:0010185	http://purl.obolibrary.org/obo/MONDO_0010185	http://www.w3.org/2004/02/skos/core#exactMatch	メチルマロン酸尿症およびホモシスチン尿症cblD型	methylmalonic aciduria and homocystinuria type cblD	https://omim.org/entry/277410	OMIM:277410
NANDO:2201292	アラン・ハーンドン・ダドリー症候群	Allan-Herndon-Dudley syndrome	MONDO:0010354	http://purl.obolibrary.org/obo/MONDO_0010354	http://www.w3.org/2004/02/skos/core#exactMatch	アラン・ハーンドン・タドリー症候群	Allan-Herndon-Dudley syndrome	https://omim.org/entry/300523	OMIM:300523
NANDO:2201167	糖原病IXd型	Glycogen storage disease type IXd	MONDO:0010362	http://purl.obolibrary.org/obo/MONDO_0010362	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病IXd	glycogen storage disease IXd	https://omim.org/entry/300559	OMIM:300559
NANDO:2201279	gp91phox欠損慢性肉芽腫症	gp91phox-deficient chronic granulomatous disease	MONDO:0010389	http://purl.obolibrary.org/obo/MONDO_0010389	http://www.w3.org/2004/02/skos/core#exactMatch	CYBB欠損によるX連鎖性メンデル遺伝型マイコバクテリア易感染症	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	https://omim.org/entry/300645	OMIM:300645
NANDO:2201269	X連鎖優性プロトポルフィリン症	X-linked dominant protoporphyria	MONDO:0010420	http://purl.obolibrary.org/obo/MONDO_0010420	http://www.w3.org/2004/02/skos/core#exactMatch	X連鎖骨髄性プロトポルフィリン症	X-linked erythropoietic protoporphyria	https://omim.org/entry/300752	OMIM:300752
NANDO:2201164	糖原病IXa型	Glycogen storage disease type IXa	MONDO:0010598	http://purl.obolibrary.org/obo/MONDO_0010598	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病IXa1	glycogen storage disease IXa1	https://omim.org/entry/306000	OMIM:306000
NANDO:2200998	CHILD症候群	CHILD syndrome	MONDO:0010621	http://purl.obolibrary.org/obo/MONDO_0010621	http://www.w3.org/2004/02/skos/core#exactMatch	CHILD症候群	CHILD syndrome	https://omim.org/entry/308050	OMIM:308050
NANDO:2201288	ペリツェウス・メルツバッハ病	Pelizaeus-Merzbacher disease	MONDO:0010714	http://purl.obolibrary.org/obo/MONDO_0010714	http://www.w3.org/2004/02/skos/core#exactMatch	ペリツェウス・メルツバッハ スペクトラム病	Pelizaeus-Merzbacher spectrum disorder	https://omim.org/entry/312080	OMIM:312080
NANDO:2201071	MODY3	Maturity-onset diabetes of the young type 3	MONDO:0010894	http://purl.obolibrary.org/obo/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://omim.org/entry/600496	OMIM:600496
NANDO:2201291	18q欠失症候群	18q-syndrome	MONDO:0011147	http://purl.obolibrary.org/obo/MONDO_0011147	http://www.w3.org/2004/02/skos/core#exactMatch	18q欠失症候群	chromosome 18q deletion syndrome	https://omim.org/entry/601808	OMIM:601808
NANDO:2201273	α - サラセミア	α-thalassemia	MONDO:0011399	http://purl.obolibrary.org/obo/MONDO_0011399	http://www.w3.org/2004/02/skos/core#exactMatch	αサラセミアスペクトル	alpha thalassemia spectrum	https://omim.org/entry/604131	OMIM:604131
NANDO:2201072	MODY4	Maturity-onset diabetes of the young type 4	MONDO:0011667	http://purl.obolibrary.org/obo/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://omim.org/entry/606392	OMIM:606392
NANDO:2201170	Hurler-Scheie病	Hurler-Scheie disease	MONDO:0011759	http://purl.obolibrary.org/obo/MONDO_0011759	http://www.w3.org/2004/02/skos/core#exactMatch	Hurler-Scheie症候群	Hurler-Scheie syndrome	https://omim.org/entry/607015	OMIM:607015
NANDO:2201169	Scheie病	Scheie  disease	MONDO:0011760	http://purl.obolibrary.org/obo/MONDO_0011760	http://www.w3.org/2004/02/skos/core#exactMatch	Scheie症候群	Scheie syndrome	https://omim.org/entry/607016	OMIM:607016
NANDO:2201066	慢性乳児神経皮膚関節症候群	Chronic infantile neurological cutaneous articular syndrome	MONDO:0011776	http://purl.obolibrary.org/obo/MONDO_0011776	http://www.w3.org/2004/02/skos/core#exactMatch	慢性乳児神経皮膚関節症候群	CINCA syndrome	https://omim.org/entry/607115	OMIM:607115
NANDO:2201207	ニーマン・ピック病B型	Niemann-Pick disease type B	MONDO:0011871	http://purl.obolibrary.org/obo/MONDO_0011871	http://www.w3.org/2004/02/skos/core#exactMatch	ニーマン・ピック病B型	Niemann-Pick disease type B	https://omim.org/entry/607616	OMIM:607616
NANDO:2201132	新生児期発症型カルニチンパルミトイルトランスフェラーゼII欠損症	Neonatal-onset carnitine palmitoyltransferase II deficiency	MONDO:0012136	http://purl.obolibrary.org/obo/MONDO_0012136	http://www.w3.org/2004/02/skos/core#exactMatch	カルニチンパルミトイルトランスフェラーゼII欠損症, 新生児型	carnitine palmitoyl transferase II deficiency, neonatal form	https://omim.org/entry/608836	OMIM:608836
NANDO:2201152	糖原病0b型	Glycogen storage disease type 0b	MONDO:0012693	http://purl.obolibrary.org/obo/MONDO_0012693	http://www.w3.org/2004/02/skos/core#exactMatch	筋・心グリコーゲン合成酵素欠損による糖原病	glycogen storage disease due to muscle and heart glycogen synthase deficiency	https://omim.org/entry/611556	OMIM:611556
NANDO:2201290	基底核および小脳萎縮を伴う髄鞘形成不全症	Hypomyelination with atrophy of the basal ganglia and cerebellum	MONDO:0012905	http://purl.obolibrary.org/obo/MONDO_0012905	http://www.w3.org/2004/02/skos/core#exactMatch	ミエリン形成不全性白質ジストロフィー6	hypomyelinating leukodystrophy 6	https://omim.org/entry/612438	OMIM:612438
NANDO:2201166	糖原病IXc型	Glycogen storage disease type IXc	MONDO:0013091	http://purl.obolibrary.org/obo/MONDO_0013091	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病IXc	glycogen storage disease IXc	https://omim.org/entry/613027	OMIM:613027
NANDO:2201283	p40phox欠損慢性肉芽腫症	p40phox-deficient chronic granulomatous disease	MONDO:0013507	http://purl.obolibrary.org/obo/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://omim.org/entry/613960	OMIM:613960
NANDO:2201004	肥厚性皮膚骨膜症	Pachydermoperiostosis	MONDO:0016620	http://purl.obolibrary.org/obo/MONDO_0016620	http://www.w3.org/2004/02/skos/core#exactMatch	原発性肥大性骨関節症	primary hypertrophic osteoarthropathy	https://omim.org/phenotypicSeries/PS259100	OMIMPS:259100
NANDO:2201047	家族性肺動脈性肺高血圧症	Familial pulmonary arterial hypertension	MONDO:0017148	http://purl.obolibrary.org/obo/MONDO_0017148	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性肺動脈性肺高血圧症	heritable pulmonary arterial hypertension	https://omim.org/phenotypicSeries/PS178600	OMIMPS:178600
NANDO:2200991	常染色体劣性遺伝性魚鱗癬	Autosomal recessive congenital ichthyosis	MONDO:0017265	http://purl.obolibrary.org/obo/MONDO_0017265	http://www.w3.org/2004/02/skos/core#exactMatch	常染色体潜性先天性魚鱗癬	autosomal recessive congenital ichthyosis	https://omim.org/phenotypicSeries/PS242300	OMIMPS:242300
NANDO:2201229	乳児型ポンペ病	Classic infantile Pompe disease	MONDO:0017694	http://purl.obolibrary.org/obo/MONDO_0017694	http://www.w3.org/2004/02/skos/core#exactMatch	酸性マルターゼ欠損による糖原病, 乳児期発症	glycogen storage disease due to acid maltase deficiency, infantile onset	https://omim.org/entry/232300	OMIM:232300
NANDO:2201006	スティーヴンス・ジョンソン症候群	Stevens-Johnson syndrome	MONDO:0018229	http://purl.obolibrary.org/obo/MONDO_0018229	http://www.w3.org/2004/02/skos/core#exactMatch	スティーヴンス・ジョンソン症候群	Stevens-Johnson syndrome	https://omim.org/entry/608579	OMIM:608579
NANDO:2201068	家族性寒冷自己炎症症候群	familial cold autoinflammatory syndrome	MONDO:0018768	http://purl.obolibrary.org/obo/MONDO_0018768	http://www.w3.org/2004/02/skos/core#exactMatch	家族性寒冷自己炎症症候群	familial cold autoinflammatory syndrome	https://omim.org/phenotypicSeries/PS120100	OMIMPS:120100
NANDO:2200996	KID症候群	Keratitis-ichthyosis-deafness syndrome	MONDO:0018781	http://purl.obolibrary.org/obo/MONDO_0018781	http://www.w3.org/2004/02/skos/core#exactMatch	KID症候群	KID syndrome	https://omim.org/phenotypicSeries/PS148210	OMIMPS:148210
NANDO:2201003	レックリングハウゼン病	von Recklinghausen's disease	MONDO:0018975	http://purl.obolibrary.org/obo/MONDO_0018975	http://www.w3.org/2004/02/skos/core#exactMatch	神経線維腫症1型	neurofibromatosis type 1	https://omim.org/entry/162200	OMIM:162200
NANDO:2201011	骨形成不全症	Osteogenesis imperfecta	MONDO:0019019	http://purl.obolibrary.org/obo/MONDO_0019019	http://www.w3.org/2004/02/skos/core#exactMatch	骨形成不全症	osteogenesis imperfecta	https://omim.org/phenotypicSeries/PS166200	OMIMPS:166200
NANDO:2201232	ウォルマン病	Wolman disease	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	http://www.w3.org/2004/02/skos/core#exactMatch	酸性リパーゼ欠損症	Wolman disease	https://omim.org/entry/620151	OMIM:620151
NANDO:2201233	コレステロールエステル蓄積症	Cholesterol ester storage disease	MONDO:0019149	http://purl.obolibrary.org/obo/MONDO_0019149	http://www.w3.org/2004/02/skos/core#exactMatch	コレステロールエステル蓄積症	cholesteryl ester storage disease	https://omim.org/entry/278000	OMIM:278000
NANDO:2201034	遺伝性出血性末梢血管拡張症	Hereditary hemorrhagic telangiectasia	MONDO:0019180	http://purl.obolibrary.org/obo/MONDO_0019180	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性出血性毛細血管拡張症	hereditary hemorrhagic telangiectasia	https://omim.org/phenotypicSeries/PS187300	OMIMPS:187300
NANDO:2201511	ベッカー病	Becker disease	MONDO:0009715	http://purl.obolibrary.org/obo/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://omim.org/entry/255700	OMIM:255700
NANDO:1201114	α2-PI 欠乏症	α2-plasmin inhibitor deficiency	MONDO:0009883	http://purl.obolibrary.org/obo/MONDO_0009883	http://www.w3.org/2004/02/skos/core#exactMatch	α2プラスミンインヒビター欠損症	alpha-2-plasmin inhibitor deficiency	https://omim.org/entry/262850	OMIM:262850
NANDO:2201367	骨幹端異形成症	Metaphyseal dysplasias	MONDO:0009943	http://purl.obolibrary.org/obo/MONDO_0009943	http://www.w3.org/2004/02/skos/core#exactMatch	パイル病	Pyle disease	https://omim.org/entry/265900	OMIM:265900
NANDO:2201531	ラパデリノ症候群	RAPADILINO symdrome	MONDO:0009955	http://purl.obolibrary.org/obo/MONDO_0009955	http://www.w3.org/2004/02/skos/core#exactMatch	ラパデリノ症候群	rapadilino syndrome	https://omim.org/entry/266280	OMIM:266280
NANDO:2201527	ロスムンド・トムソン症候群	Rothmund-Thomson syndrome	MONDO:0010002	http://purl.obolibrary.org/obo/MONDO_0010002	http://www.w3.org/2004/02/skos/core#exactMatch	ロスムンド・トムソン症候群	Rothmund-Thomson syndrome	https://omim.org/phenotypicSeries/PS268400	OMIMPS:268400
NANDO:2201433	脊髄性筋萎縮症IV型	Spinal muscular atrophy type IV	MONDO:0010056	http://purl.obolibrary.org/obo/MONDO_0010056	http://www.w3.org/2004/02/skos/core#exactMatch	脊髄性筋萎縮症IV型	spinal muscular atrophy, type IV	https://omim.org/entry/271150	OMIM:271150
NANDO:2201351	脊椎末梢異形成症	Spondyloperipheral dysplasia	MONDO:0010078	http://purl.obolibrary.org/obo/MONDO_0010078	http://www.w3.org/2004/02/skos/core#exactMatch	脊椎末梢異形成症	spondyloperipheral dysplasia	https://omim.org/entry/271700	OMIM:271700
NANDO:2201404	PCDH19関連症候群	PCDH19-related syndrome	MONDO:0010246	http://purl.obolibrary.org/obo/MONDO_0010246	http://www.w3.org/2004/02/skos/core#exactMatch	発達性およびてんかん性脳症9	developmental and epileptic encephalopathy, 9	https://omim.org/entry/300088	OMIM:300088
NANDO:2201301	SLC6A8欠損症	SLC6A8 deficiency	MONDO:0010305	http://purl.obolibrary.org/obo/MONDO_0010305	http://www.w3.org/2004/02/skos/core#exactMatch	クレアチントランスポーター欠損症	creatine transporter deficiency	https://omim.org/entry/300352	OMIM:300352
NANDO:2201393	ＣＡＳＫ異常症	CASK abnormality	MONDO:0010417	http://purl.obolibrary.org/obo/MONDO_0010417	http://www.w3.org/2004/02/skos/core#exactMatch	症候性X連鎖性知的障害Najm型	syndromic X-linked intellectual disability Najm type	https://omim.org/entry/300749	OMIM:300749
NANDO:2201414	WDR45関連神経変性症	WDR45 associated neurodegeneration	MONDO:0010476	http://purl.obolibrary.org/obo/MONDO_0010476	http://www.w3.org/2004/02/skos/core#exactMatch	脳内鉄沈着神経変性症5	neurodegeneration with brain iron accumulation 5	https://omim.org/entry/300894	OMIM:300894
NANDO:1201150	脳内鉄沈着神経変性症5型	Neurodegeneration with brain iron accumulation type5	MONDO:0010476	http://purl.obolibrary.org/obo/MONDO_0010476	http://www.w3.org/2004/02/skos/core#exactMatch	脳内鉄沈着神経変性症5	neurodegeneration with brain iron accumulation 5	https://omim.org/entry/300894	OMIM:300894
NANDO:2201395	DDX3X関連神経発達異常症	DDX3X-related neurodevelopmental disorder	MONDO:0010497	http://purl.obolibrary.org/obo/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://omim.org/entry/300958	OMIM:300958
NANDO:2201360	末節骨短縮型点状軟骨異形成症	Brachytelephalangic chondrodysplasia punctata	MONDO:0010555	http://purl.obolibrary.org/obo/MONDO_0010555	http://www.w3.org/2004/02/skos/core#exactMatch	X連鎖性根性点状軟骨異形成症1	X-linked chondrodysplasia punctata 1	https://omim.org/entry/302950	OMIM:302950
NANDO:2201397	アイカルディ症候群	Aicardi syndrome	MONDO:0010568	http://purl.obolibrary.org/obo/MONDO_0010568	http://www.w3.org/2004/02/skos/core#exactMatch	アイカルディ症候群	Aicardi syndrome	https://omim.org/entry/304050	OMIM:304050
NANDO:1201175	ホスホリラーゼキナーゼ欠損症	Phosphorylase kinase deficiency	MONDO:0010598	http://purl.obolibrary.org/obo/MONDO_0010598	http://www.w3.org/2004/02/skos/core#exactMatch	糖原病IXa1	glycogen storage disease IXa1	https://omim.org/entry/306000	OMIM:306000
NANDO:1201116	ロウ症候群	Lowe syndrome	MONDO:0010645	http://purl.obolibrary.org/obo/MONDO_0010645	http://www.w3.org/2004/02/skos/core#exactMatch	眼腎脳症候群	oculocerebrorenal syndrome	https://omim.org/entry/309000	OMIM:309000
NANDO:2201475	バッド・キアリ症候群	Budd-Chiari syndrome	MONDO:0010947	http://purl.obolibrary.org/obo/MONDO_0010947	http://www.w3.org/2004/02/skos/core#exactMatch	バッド・キアリ症候群	Budd-Chiari syndrome	https://omim.org/entry/600880	OMIM:600880
NANDO:2201437	進行性家族性肝内胆汁うっ滞症2型	Progressive familial intrahepatic cholestasis type 2	MONDO:0011156	http://purl.obolibrary.org/obo/MONDO_0011156	http://www.w3.org/2004/02/skos/core#exactMatch	進行性家族性肝内胆汁うっ滞2型	progressive familial intrahepatic cholestasis type 2	https://omim.org/entry/601847	OMIM:601847
NANDO:2201438	進行性家族性肝内胆汁うっ滞症3型	Progressive familial intrahepatic cholestasis type 3	MONDO:0011214	http://purl.obolibrary.org/obo/MONDO_0011214	http://www.w3.org/2004/02/skos/core#exactMatch	進行性家族性肝内胆汁うっ滞3型	progressive familial intrahepatic cholestasis type 3	https://omim.org/entry/602347	OMIM:602347
NANDO:1201152	無セルロプラスミン血症	Aceruloplasminemia	MONDO:0011426	http://purl.obolibrary.org/obo/MONDO_0011426	http://www.w3.org/2004/02/skos/core#exactMatch	NBIA４	aceruloplasminemia	https://omim.org/entry/604290	OMIM:604290
NANDO:2201294	サラ病	Salla disease	MONDO:0011449	http://purl.obolibrary.org/obo/MONDO_0011449	http://www.w3.org/2004/02/skos/core#exactMatch	サラ病	Salla disease	https://omim.org/entry/604369	OMIM:604369
NANDO:2201352	早発性関節症を伴う軽症脊椎骨端異形成症	Mild spondyloepiphyseal dysplasia with premature-onset arthrosis	MONDO:0011496	http://purl.obolibrary.org/obo/MONDO_0011496	http://www.w3.org/2004/02/skos/core#exactMatch	早発性変形性関節症を伴うCOL2A1変異による軽症脊椎骨端異形成症	mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	https://omim.org/entry/604864	OMIM:604864
NANDO:2201417	ヴィーデマン・スタイナー症候群	Wiedemann-Steiner syndrome	MONDO:0011518	http://purl.obolibrary.org/obo/MONDO_0011518	http://www.w3.org/2004/02/skos/core#exactMatch	ヴィーデマン・スタイナー症候群	Wiedemann-Steiner syndrome	https://omim.org/entry/605130	OMIM:605130
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://purl.obolibrary.org/obo/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://omim.org/entry/607694	OMIM:607694
NANDO:2201298	脱髄型末梢神経障害、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease	MONDO:0012198	http://purl.obolibrary.org/obo/MONDO_0012198	http://www.w3.org/2004/02/skos/core#exactMatch	PCWH症候群	PCWH syndrome	https://omim.org/entry/609136	OMIM:609136
NANDO:2201353	中足骨短縮を伴う脊椎骨端異形成症	Spondyloepiphyseal dysplasia with metatarsal shortening	MONDO:0012206	http://purl.obolibrary.org/obo/MONDO_0012206	http://www.w3.org/2004/02/skos/core#exactMatch	中足骨短縮を伴う脊椎骨端異形成症	spondyloepiphyseal dysplasia with metatarsal shortening	https://omim.org/entry/609162	OMIM:609162
NANDO:2201411	ピリドキサール依存症	Pyridoxal 5'-phosphate-dependent epilepsy	MONDO:0012407	http://purl.obolibrary.org/obo/MONDO_0012407	http://www.w3.org/2004/02/skos/core#exactMatch	ピリドキサールリン酸反応性発作	pyridoxal phosphate-responsive seizures	https://omim.org/entry/610090	OMIM:610090
NANDO:2201296	先天性白内障を伴う髄鞘形成不全症	Hypomyelination and congenital cataract	MONDO:0012514	http://purl.obolibrary.org/obo/MONDO_0012514	http://www.w3.org/2004/02/skos/core#exactMatch	ミエリン形成不全性白質ジストロフィー5	hypomyelinating leukodystrophy 5	https://omim.org/entry/610532	OMIM:610532
NANDO:2201419	ピット・ホプキンス症候群	Pitt-Hopkins syndrome	MONDO:0012589	http://purl.obolibrary.org/obo/MONDO_0012589	http://www.w3.org/2004/02/skos/core#exactMatch	Pitt-Hopkins症候群	Pitt-Hopkins syndrome	https://omim.org/entry/610954	OMIM:610954
NANDO:2201293	Hsp60シャペロン病	Mitochondrial Hsp60 chaperonopathy	MONDO:0012824	http://purl.obolibrary.org/obo/MONDO_0012824	http://www.w3.org/2004/02/skos/core#exactMatch	ミエリン形成不全性白質ジストロフィー4	hypomyelinating leukodystrophy 4	https://omim.org/entry/612233	OMIM:612233
NANDO:2201299	AGAT欠損症	AGAT deficiency	MONDO:0012996	http://purl.obolibrary.org/obo/MONDO_0012996	http://www.w3.org/2004/02/skos/core#exactMatch	AGAT欠損症	AGAT deficiency	https://omim.org/entry/612718	OMIM:612718
NANDO:2201300	GAMT欠損症	GAMT deficiency	MONDO:0012999	http://purl.obolibrary.org/obo/MONDO_0012999	http://www.w3.org/2004/02/skos/core#exactMatch	グアニジノ酢酸メチルトランスフェラーゼ欠損症	guanidinoacetate methyltransferase deficiency	https://omim.org/entry/612736	OMIM:612736
NANDO:2201389	ADTKD-REN	ADTKD-REN	MONDO:0013128	http://purl.obolibrary.org/obo/MONDO_0013128	http://www.w3.org/2004/02/skos/core#exactMatch	家族性若年性高尿酸血症性腎症2型	familial juvenile hyperuricemic nephropathy type 2	https://omim.org/entry/613092	OMIM:613092
NANDO:2201460	第XIII因子欠乏症II型	Type II factor XIII deficiency	MONDO:0013187	http://purl.obolibrary.org/obo/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://omim.org/entry/613225	OMIM:613225
NANDO:2201459	第XIII因子欠乏症I型	Type I factor XIII deficiency	MONDO:0013190	http://purl.obolibrary.org/obo/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://omim.org/entry/613235	OMIM:613235
NANDO:1201113	PAI-1 欠乏症	PAI-1 deficiency	MONDO:0013227	http://purl.obolibrary.org/obo/MONDO_0013227	http://www.w3.org/2004/02/skos/core#exactMatch	先天性プラスミノーゲン活性化阻害因子1型欠損症	congenital plasminogen activator inhibitor type 1 deficiency	https://omim.org/entry/613329	OMIM:613329
NANDO:2201416	バインブリッジ・ロパース症候群	Bainbridge–Ropers syndrome	MONDO:0014205	http://purl.obolibrary.org/obo/MONDO_0014205	http://www.w3.org/2004/02/skos/core#exactMatch	ASXL3欠損症候群による重症経口摂取困難-発育不全-小頭症	severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	https://omim.org/entry/615485	OMIM:615485
NANDO:2201390	ADTKD-SEC61A1	ADTKD-SEC61A1	MONDO:0014891	http://purl.obolibrary.org/obo/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://omim.org/entry/617056	OMIM:617056
NANDO:2201366	頭蓋骨幹端異形成症	Craniometaphyseal dysplasia	MONDO:0015465	http://purl.obolibrary.org/obo/MONDO_0015465	http://www.w3.org/2004/02/skos/core#exactMatch	頭蓋骨幹端異形成症	craniometaphyseal dysplasia	https://omim.org/phenotypicSeries/PS123000	OMIMPS:123000
NANDO:2201341	単純型表皮水疱症	Epidermolysis bullosa simplex	MONDO:0017610	http://purl.obolibrary.org/obo/MONDO_0017610	http://www.w3.org/2004/02/skos/core#exactMatch	単純型表皮水疱症	epidermolysis bullosa simplex	https://omim.org/phenotypicSeries/PS131760	OMIMPS:131760
NANDO:2201342	接合部型表皮水疱症	Junctional epidermolysis bullosa	MONDO:0017612	http://purl.obolibrary.org/obo/MONDO_0017612	http://www.w3.org/2004/02/skos/core#exactMatch	接合部型表皮水疱症	junctional epidermolysis bullosa	https://omim.org/phenotypicSeries/PS226650	OMIMPS:226650
NANDO:2201369	硬化性骨症	Sclerosteosis	MONDO:0017838	http://purl.obolibrary.org/obo/MONDO_0017838	http://www.w3.org/2004/02/skos/core#exactMatch	硬結性骨化症	sclerosteosis	https://omim.org/phenotypicSeries/PS269500	OMIMPS:269500
NANDO:2201305	非症候性頭蓋骨縫合早期癒合症（前頭縫合）	Non-syndromic metopic craniosynostosis	MONDO:0018065	http://purl.obolibrary.org/obo/MONDO_0018065	http://www.w3.org/2004/02/skos/core#exactMatch	孤立性三角頭蓋	isolated trigonocephaly	https://omim.org/phenotypicSeries/PS190440	OMIMPS:190440
NANDO:1201159	ロイス・ディーツ症候群	Loeys–Dietz syndrome	MONDO:0018954	http://purl.obolibrary.org/obo/MONDO_0018954	http://www.w3.org/2004/02/skos/core#exactMatch	ロイス・ディーツ症候群	Loeys-Dietz syndrome	https://omim.org/phenotypicSeries/PS609192	OMIMPS:609192
NANDO:2201513	ナトリウムチャネルミオトニー	Sodium channel myotonia	MONDO:0018959	http://purl.obolibrary.org/obo/MONDO_0018959	http://www.w3.org/2004/02/skos/core#exactMatch	カリウム惹起性ミオトニー	potassium-aggravated myotonia	https://omim.org/entry/608390	OMIM:608390
NANDO:1200941	アッシャー症候群	Usher syndrome	MONDO:0019501	http://purl.obolibrary.org/obo/MONDO_0019501	http://www.w3.org/2004/02/skos/core#exactMatch	アッシャー症候群	Usher syndrome	https://omim.org/phenotypicSeries/PS276900	OMIMPS:276900
NANDO:1201000	前眼部形成異常	Anterior segment dysgenesis	MONDO:0019503	http://purl.obolibrary.org/obo/MONDO_0019503	http://www.w3.org/2004/02/skos/core#exactMatch	前眼部形成不全	anterior segment dysgenesis	https://omim.org/phenotypicSeries/PS107250	OMIMPS:107250
NANDO:1200608	色素性乾皮症	Xeroderma pigmentosum	MONDO:0019600	http://purl.obolibrary.org/obo/MONDO_0019600	http://www.w3.org/2004/02/skos/core#exactMatch	色素性乾皮症	xeroderma pigmentosum	https://omim.org/phenotypicSeries/PS278700	OMIMPS:278700
NANDO:1200365	遺伝性血管性浮腫	Hereditary angioedema	MONDO:0019623	http://purl.obolibrary.org/obo/MONDO_0019623	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性血管性浮腫	hereditary angioedema	https://omim.org/phenotypicSeries/PS106100	OMIMPS:106100
NANDO:1200477	先天性ミオパチー	Congenital myopathy	MONDO:0019952	http://purl.obolibrary.org/obo/MONDO_0019952	http://www.w3.org/2004/02/skos/core#exactMatch	先天性ミオパチー	congenital myopathy	https://omim.org/phenotypicSeries/PS117000	OMIMPS:117000
NANDO:2100234	先天性ミオパチー	Congenital myopathy	MONDO:0019952	http://purl.obolibrary.org/obo/MONDO_0019952	http://www.w3.org/2004/02/skos/core#exactMatch	先天性ミオパチー	congenital myopathy	https://omim.org/phenotypicSeries/PS117000	OMIMPS:117000
NANDO:1200645	エーラス・ダンロス症候群	Ehlers-Danlos Syndrome	MONDO:0020066	http://purl.obolibrary.org/obo/MONDO_0020066	http://www.w3.org/2004/02/skos/core#exactMatch	エーラス・ダンロス症候群	Ehlers-Danlos syndrome	https://omim.org/phenotypicSeries/PS130000	OMIMPS:130000
NANDO:1200953	進行性ミオクローヌスてんかん	Progressive myoclonus epilepsy	MONDO:0020074	http://purl.obolibrary.org/obo/MONDO_0020074	http://www.w3.org/2004/02/skos/core#exactMatch	進行性ミオクローヌスてんかん	progressive myoclonus epilepsy	https://omim.org/phenotypicSeries/PS254800	OMIMPS:254800
NANDO:2100237	進行性ミオクローヌスてんかん	Progressive myoclonus epilepsy	MONDO:0020074	http://purl.obolibrary.org/obo/MONDO_0020074	http://www.w3.org/2004/02/skos/core#exactMatch	進行性ミオクローヌスてんかん	progressive myoclonus epilepsy	https://omim.org/phenotypicSeries/PS254800	OMIMPS:254800
NANDO:1200861	家族性部分性脂肪萎縮症	Familial partial lipodystrophy	MONDO:0020088	http://purl.obolibrary.org/obo/MONDO_0020088	http://www.w3.org/2004/02/skos/core#exactMatch	家族性部分型リポジストロフィー	familial partial lipodystrophy	https://omim.org/phenotypicSeries/PS151660	OMIMPS:151660
NANDO:1200892	遺伝性鉄芽球性貧血	Hereditary sideroblastic anemia	MONDO:0020099	http://purl.obolibrary.org/obo/MONDO_0020099	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性鉄芽球性貧血	inherited sideroblastic anemia	https://omim.org/phenotypicSeries/PS300751	OMIMPS:300751
NANDO:1200305	自己免疫性溶血性貧血	Autoimmune hemolytic anemia	MONDO:0020108	http://purl.obolibrary.org/obo/MONDO_0020108	http://www.w3.org/2004/02/skos/core#exactMatch	自己免疫性溶血性貧血	autoimmune hemolytic anemia	https://omim.org/entry/205700	OMIM:205700
NANDO:2100181	自己免疫性溶血性貧血	Autoimmune hemolytic anemia	MONDO:0020108	http://purl.obolibrary.org/obo/MONDO_0020108	http://www.w3.org/2004/02/skos/core#exactMatch	自己免疫性溶血性貧血	autoimmune hemolytic anemia	https://omim.org/entry/205700	OMIM:205700
NANDO:1201079	脳室周囲結節状異所性灰白質	Periventricular nodular heterotopia	MONDO:0020341	http://purl.obolibrary.org/obo/MONDO_0020341	http://www.w3.org/2004/02/skos/core#exactMatch	脳室周囲結節状異所性灰白質	periventricular nodular heterotopia	https://omim.org/phenotypicSeries/PS300049	OMIMPS:300049
NANDO:1200630	Conradi-Hünermann-Happle 症候群	Conradi Hünermann Happle syndrome	MONDO:0020603	http://purl.obolibrary.org/obo/MONDO_0020603	http://www.w3.org/2004/02/skos/core#exactMatch	X連鎖性点状軟骨異形成症2型	X-linked chondrodysplasia punctata 2	https://omim.org/entry/302960	OMIM:302960
NANDO:1200367	多発性嚢胞腎	Polycystic kidney disease	MONDO:0020642	http://purl.obolibrary.org/obo/MONDO_0020642	http://www.w3.org/2004/02/skos/core#exactMatch	多発性嚢胞腎	polycystic kidney disease	https://omim.org/phenotypicSeries/PS173900	OMIMPS:173900
NANDO:1201092	ビタミンD依存症 1A型	Vitamin D-dependent rickets, type 1A	MONDO:0020723	http://purl.obolibrary.org/obo/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://omim.org/entry/264700	OMIM:264700
NANDO:2100204	免疫不全を伴う特徴的な症候群	Immunodeficiency	MONDO:0021094	http://purl.obolibrary.org/obo/MONDO_0021094	http://www.w3.org/2004/02/skos/core#exactMatch	免疫不全症	immunodeficiency disease	https://omim.org/phenotypicSeries/PS300755	OMIMPS:300755
NANDO:1200537	脳内鉄沈着神経変性症2型	Neurodegeneration with brain iron accumulation type 2	MONDO:0024457	http://purl.obolibrary.org/obo/MONDO_0024457	http://www.w3.org/2004/02/skos/core#exactMatch	脳内鉄沈着神経変性症2A	neurodegeneration with brain iron accumulation 2A	https://omim.org/entry/256600	OMIM:256600
NANDO:1200208	家族性特発性基底核石灰化症	Familial idiopathic basal ganglia calcification	MONDO:0024538	http://purl.obolibrary.org/obo/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://omim.org/entry/213600	OMIM:213600
NANDO:1200219	眼咽頭遠位型ミオパチー	Oculopharyngodistal myopathy	MONDO:0025193	http://purl.obolibrary.org/obo/MONDO_0025193	http://www.w3.org/2004/02/skos/core#exactMatch	眼咽頭遠位型ミオパチー	oculopharyngodistal myopathy	https://omim.org/phenotypicSeries/PS164310	OMIMPS:164310
NANDO:1201094	ビタミンD依存症 3型	Vitamin D-dependent rickets, type 3	MONDO:0033640	http://purl.obolibrary.org/obo/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://omim.org/entry/619073	OMIM:619073
NANDO:1200511	遺伝性ジストニア	Hereditary dystonia	MONDO:0044807	http://purl.obolibrary.org/obo/MONDO_0044807	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性ジストニア	inherited dystonia	https://omim.org/phenotypicSeries/PS128100	OMIMPS:128100
NANDO:1200593	大田原症候群	Ohtahara syndrome	MONDO:0100062	http://purl.obolibrary.org/obo/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://omim.org/phenotypicSeries/PS308350	OMIMPS:308350
NANDO:1200162	腎型シスチン症	Nephropathic cystinosis	MONDO:0100151	http://purl.obolibrary.org/obo/MONDO_0100151	http://www.w3.org/2004/02/skos/core#exactMatch	腎型シスチン症	nephropathic cystinosis	https://omim.org/entry/219800	OMIM:219800
NANDO:2200030	皮下脂肪織炎様T細胞リンパ腫	Sucutaneous panniculitis-like T-cell lymphoma	MONDO:0019475	http://purl.obolibrary.org/obo/MONDO_0019475	http://www.w3.org/2004/02/skos/core#exactMatch	皮下脂肪織炎様T細胞リンパ腫	subcutaneous panniculitis-like T-cell lymphoma	https://omim.org/entry/618398	OMIM:618398
NANDO:2201002	色素性乾皮症	Xeroderma pigmentosum	MONDO:0019600	http://purl.obolibrary.org/obo/MONDO_0019600	http://www.w3.org/2004/02/skos/core#exactMatch	色素性乾皮症	xeroderma pigmentosum	https://omim.org/phenotypicSeries/PS278700	OMIMPS:278700
NANDO:2200795	遺伝性血管性浮腫	Hereditary angioedema	MONDO:0019623	http://purl.obolibrary.org/obo/MONDO_0019623	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性血管性浮腫	hereditary angioedema	https://omim.org/phenotypicSeries/PS106100	OMIMPS:106100
NANDO:2200607	エーラス・ダンロス症候群	Ehlers-Danlos syndrome	MONDO:0020066	http://purl.obolibrary.org/obo/MONDO_0020066	http://www.w3.org/2004/02/skos/core#exactMatch	エーラス・ダンロス症候群	Ehlers-Danlos syndrome	https://omim.org/phenotypicSeries/PS130000	OMIMPS:130000
NANDO:2200152	多発性嚢胞腎	Polycystic kidney disease	MONDO:0020642	http://purl.obolibrary.org/obo/MONDO_0020642	http://www.w3.org/2004/02/skos/core#exactMatch	多発性嚢胞腎	polycystic kidney disease	https://omim.org/phenotypicSeries/PS173900	OMIMPS:173900
NANDO:2200915	家族性腺腫性ポリポーシス	Familial adenomatous polyposis	MONDO:0021055	http://purl.obolibrary.org/obo/MONDO_0021055	http://www.w3.org/2004/02/skos/core#exactMatch	古典的家族性腺腫性ポリポーシス	classic familial adenomatous polyposis	https://omim.org/phenotypicSeries/PS175100	OMIMPS:175100
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://purl.obolibrary.org/obo/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://omim.org/entry/601399	OMIM:601399
NANDO:2201234	腎型シスチン症	Nephropathic cystinosis	MONDO:0100151	http://purl.obolibrary.org/obo/MONDO_0100151	http://www.w3.org/2004/02/skos/core#exactMatch	腎型シスチン症	nephropathic cystinosis	https://omim.org/entry/219800	OMIM:219800
NANDO:2200737	STAT5b欠損症	STAT5b deficiency	MONDO:0100211	http://purl.obolibrary.org/obo/MONDO_0100211	http://www.w3.org/2004/02/skos/core#exactMatch	免疫調節障害を伴う成長ホルモン不応性症候群1, 常染色体潜性	growth hormone insensitivity with immune dysregulation 1, autosomal recessive	https://omim.org/entry/245590	OMIM:245590
NANDO:2200999	IFAP症候群	Ichthyosis-follicularis-atrichia-photophobia syndrome	MONDO:0100213	http://purl.obolibrary.org/obo/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://omim.org/entry/308205	OMIM:308205
NANDO:2201446	先天性部分性脂肪萎縮症	Familial partial lipodystrophy	MONDO:0020088	http://purl.obolibrary.org/obo/MONDO_0020088	http://www.w3.org/2004/02/skos/core#exactMatch	家族性部分型リポジストロフィー	familial partial lipodystrophy	https://omim.org/phenotypicSeries/PS151660	OMIMPS:151660
NANDO:2201470	遺伝性鉄芽球性貧血	Hereditary sideroblastic anemia	MONDO:0020099	http://purl.obolibrary.org/obo/MONDO_0020099	http://www.w3.org/2004/02/skos/core#exactMatch	遺伝性鉄芽球性貧血	inherited sideroblastic anemia	https://omim.org/phenotypicSeries/PS300751	OMIMPS:300751
NANDO:2201357	X染色体優性 Conradi-Hunermann型点状軟骨異形成症	X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type	MONDO:0020603	http://purl.obolibrary.org/obo/MONDO_0020603	http://www.w3.org/2004/02/skos/core#exactMatch	X連鎖性点状軟骨異形成症2型	X-linked chondrodysplasia punctata 2	https://omim.org/entry/302960	OMIM:302960
NANDO:2201388	ADTKD-MUC1	ADTKD-MUC1	MONDO:0020726	http://purl.obolibrary.org/obo/MONDO_0020726	http://www.w3.org/2004/02/skos/core#exactMatch	ADTKD-MUC1	tubulointerstitial kidney disease, autosomal dominant, 2	https://omim.org/entry/174000	OMIM:174000
NANDO:2201410	ピリドキシン依存性てんかん	Pyridoxine-dependent seizures	MONDO:0020741	http://purl.obolibrary.org/obo/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://omim.org/entry/266100	OMIM:266100
NANDO:1201155	脳内鉄沈着神経変性症2A型	Neurodegeneration with brain iron accumulation type2A	MONDO:0024457	http://purl.obolibrary.org/obo/MONDO_0024457	http://www.w3.org/2004/02/skos/core#exactMatch	脳内鉄沈着神経変性症2A	neurodegeneration with brain iron accumulation 2A	https://omim.org/entry/256600	OMIM:256600
NANDO:2201398	大田原症候群	Ohtahara syndrome	MONDO:0100062	http://purl.obolibrary.org/obo/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://omim.org/phenotypicSeries/PS308350	OMIMPS:308350
NANDO:2201435	永続性新生児糖尿病	Permanent neonatal diabetes mellitus	MONDO:0100164	http://purl.obolibrary.org/obo/MONDO_0100164	http://www.w3.org/2004/02/skos/core#exactMatch	永続性新生児糖尿病	permanent neonatal diabetes mellitus	https://omim.org/phenotypicSeries/PS606176	OMIMPS:606176
NANDO:1201118	線条体黒質変性症	striatonigral degeneration	MONDO:0003122	http://purl.obolibrary.org/obo/MONDO_0003122	http://www.w3.org/2004/02/skos/core#exactMatch	線条体黒質変性症	striatonigral degeneration	https://omim.org/phenotypicSeries/PS271930	OMIMPS:271930
NANDO:2201526	トリーチャーコリンズ症候群	Treacher Collins syndrome	MONDO:0002457	http://purl.obolibrary.org/obo/MONDO_0002457	http://www.w3.org/2004/02/skos/core#exactMatch	トリーチャー・コリンズ症候群	Treacher-Collins syndrome	https://omim.org/phenotypicSeries/PS154500	OMIMPS:154500
NANDO:2201510	トムゼン病	Thomsen disease	MONDO:0008055	http://purl.obolibrary.org/obo/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://omim.org/entry/160800	OMIM:160800
NANDO:1201107	LMNB1 関連大脳白質脳症	Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy	MONDO:0008215	http://purl.obolibrary.org/obo/MONDO_0008215	http://www.w3.org/2004/02/skos/core#exactMatch	成人発症常染色体顕性脱髄性白質ジストロフィー	adult-onset autosomal dominant demyelinating leukodystrophy	https://omim.org/phenotypicSeries/PS169500	OMIMPS:169500
NANDO:2201516	Andersen-Tawil症候群	Andersen-Tawil syndrome	MONDO:0008222	http://purl.obolibrary.org/obo/MONDO_0008222	http://www.w3.org/2004/02/skos/core#exactMatch	アンデルセン・タウィル症候群	Andersen-Tawil syndrome	https://omim.org/entry/170390	OMIM:170390
NANDO:1201117	Andersen-Tawil症候群	Andersen-Tawil syndrome	MONDO:0008222	http://purl.obolibrary.org/obo/MONDO_0008222	http://www.w3.org/2004/02/skos/core#exactMatch	アンデルセン・タウィル症候群	Andersen-Tawil syndrome	https://omim.org/entry/170390	OMIM:170390
NANDO:2201517	先天性食道閉鎖症	Congenital esophageal atresia	MONDO:0008586	http://purl.obolibrary.org/obo/MONDO_0008586	http://www.w3.org/2004/02/skos/core#exactMatch	食道閉鎖および/または気管食道瘻	esophageal atresia/tracheoesophageal fistula	https://omim.org/entry/189960	OMIM:189960
NANDO:1201154	Woodhouse-Sakati症候群	Woodhouse-Sakati syndrome	MONDO:0009419	http://purl.obolibrary.org/obo/MONDO_0009419	http://www.w3.org/2004/02/skos/core#exactMatch	Woodhouse-Sakati症候群	Woodhouse-Sakati syndrome	https://omim.org/entry/241080	OMIM:241080
NANDO:1201153	Kufor-Rakeb症候群	Kufor-Rakeb syndrome	MONDO:0011706	http://purl.obolibrary.org/obo/MONDO_0011706	http://www.w3.org/2004/02/skos/core#exactMatch	クフォー・ラケブ症候群	Kufor-Rakeb syndrome	https://omim.org/entry/606693	OMIM:606693
NANDO:1201156	脳内鉄沈着神経変性症2B型	Neurodegeneration with brain iron accumulation type2B	MONDO:0012444	http://purl.obolibrary.org/obo/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://omim.org/entry/610217	OMIM:610217
NANDO:1201143	DYT24 ジストニア	DYT24 Dystonia	MONDO:0014019	http://purl.obolibrary.org/obo/MONDO_0014019	http://www.w3.org/2004/02/skos/core#exactMatch	ジストニア24	dystonia 24	https://omim.org/entry/615034	OMIM:615034
NANDO:1201144	DYT25 ジストニア	DYT25 Dystonia	MONDO:0014033	http://purl.obolibrary.org/obo/MONDO_0014033	http://www.w3.org/2004/02/skos/core#exactMatch	ジストニア25	dystonia 25	https://omim.org/entry/615073	OMIM:615073
NANDO:2201525	シャーフ・ヤング症候群	Schaaf-Yang syndrome	MONDO:0014243	http://purl.obolibrary.org/obo/MONDO_0014243	http://www.w3.org/2004/02/skos/core#exactMatch	Schaaf-Yang症候群	Schaaf-Yang syndrome	https://omim.org/entry/615547	OMIM:615547
NANDO:1201151	脳内鉄沈着神経変性症6型	Neurodegeneration with brain iron accumulation type6	MONDO:0014290	http://purl.obolibrary.org/obo/MONDO_0014290	http://www.w3.org/2004/02/skos/core#exactMatch	脳内鉄沈着神経変性症6	neurodegeneration with brain iron accumulation 6	https://omim.org/entry/615643	OMIM:615643
NANDO:2201524	シア・ギブス症候群	Xia-Gibbs syndrome	MONDO:0014358	http://purl.obolibrary.org/obo/MONDO_0014358	http://www.w3.org/2004/02/skos/core#exactMatch	AHDC1関連知的障害-閉塞性睡眠時無呼吸-軽度異形症候群	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	https://omim.org/entry/615829	OMIM:615829
NANDO:1201110	乳児発症 STING 関連血管炎	STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy	MONDO:0014405	http://purl.obolibrary.org/obo/MONDO_0014405	http://www.w3.org/2004/02/skos/core#exactMatch	乳児期発症STING関連血管障害	STING-associated vasculopathy with onset in infancy	https://omim.org/entry/615934	OMIM:615934
NANDO:2201487	乳児発症ＳＴＩＮＧ関連血管炎	STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy	MONDO:0014405	http://purl.obolibrary.org/obo/MONDO_0014405	http://www.w3.org/2004/02/skos/core#exactMatch	乳児期発症STING関連血管障害	STING-associated vasculopathy with onset in infancy	https://omim.org/entry/615934	OMIM:615934
NANDO:1201108	PURA関連神経発達異常症	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	MONDO:0014512	http://purl.obolibrary.org/obo/MONDO_0014512	http://www.w3.org/2004/02/skos/core#exactMatch	点変異によるPURA関連重症新生児筋緊張低下-けいれん-脳症症候群	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	https://omim.org/entry/616158	OMIM:616158
NANDO:1201145	DYT26 ジストニア	DYT26 Dystonia	MONDO:0014620	http://purl.obolibrary.org/obo/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://omim.org/entry/616398	OMIM:616398
NANDO:1201146	DYT27 ジストニア	DYT27 Dystonia	MONDO:0014627	http://purl.obolibrary.org/obo/MONDO_0014627	http://www.w3.org/2004/02/skos/core#exactMatch	ジストニア27	dystonia 27	https://omim.org/entry/616411	OMIM:616411
NANDO:1201148	DYT29 ジストニア	DYT29 Dystonia	MONDO:0015003	http://purl.obolibrary.org/obo/MONDO_0015003	http://www.w3.org/2004/02/skos/core#exactMatch	ジストニア, 小児期発症, 視神経萎縮および基底核異常を伴う	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	https://omim.org/entry/617282	OMIM:617282
NANDO:1201147	DYT28 ジストニア	DYT28 Dystonia	MONDO:0015004	http://purl.obolibrary.org/obo/MONDO_0015004	http://www.w3.org/2004/02/skos/core#exactMatch	ジストニア28, 小児期発症	dystonia 28, childhood-onset	https://omim.org/entry/617284	OMIM:617284
NANDO:2201528	ロスムンド・トムソン症候群 type1	Rothmund-Thomson syndrome type1	MONDO:0016368	http://purl.obolibrary.org/obo/MONDO_0016368	http://www.w3.org/2004/02/skos/core#exactMatch	ロスムンド・トムソン症候群1型	Rothmund-Thomson syndrome type 1	https://omim.org/entry/618625	OMIM:618625
NANDO:2201529	ロスムンド・トムソン症候群 type2	Rothmund-Thomson syndrome type2	MONDO:0016369	http://purl.obolibrary.org/obo/MONDO_0016369	http://www.w3.org/2004/02/skos/core#exactMatch	ロスムンド・トムソン症候群2型	Rothmund-Thomson syndrome type 2	https://omim.org/entry/268400	OMIM:268400
NANDO:1201163	コケイン症候群I型	Cockayne syndrome type 1	MONDO:0019569	http://purl.obolibrary.org/obo/MONDO_0019569	http://www.w3.org/2004/02/skos/core#exactMatch	コケイン症候群1型	Cockayne syndrome type 1	https://omim.org/entry/216400	OMIM:216400
NANDO:1201164	コケイン症候群II型	Cockayne syndrome type 2	MONDO:0019570	http://purl.obolibrary.org/obo/MONDO_0019570	http://www.w3.org/2004/02/skos/core#exactMatch	コケイン症候群2型	Cockayne syndrome type 2	https://omim.org/entry/133540	OMIM:133540
NANDO:1201149	DYT30 ジストニア	DYT30 Dystonia	MONDO:0025691	http://purl.obolibrary.org/obo/MONDO_0025691	http://www.w3.org/2004/02/skos/core#exactMatch	ジストニア30	dystonia 30	https://omim.org/entry/619291	OMIM:619291