id	id2	medgen_label	original_disease	property	mondo_id	mondolink	nando_id	nando_label_je	nanado_label_en
C1851920	MedGen UID:342121	Dystonia 5	http://www.ncbi.nlm.nih.gov/medgen/342121	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007495	http://purl.obolibrary.org/obo/MONDO_0007495	NANDO:1200516	DYT5aジストニア	Dystonia 5a
C1852700	MedGen UID:343867	C1 inhibitor deficiency	http://www.ncbi.nlm.nih.gov/medgen/343867	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007361	http://purl.obolibrary.org/obo/MONDO_0007361	NANDO:1200365	遺伝性血管性浮腫	Hereditary angioedema
C0003509	MedGen UID:8154	Aortitis	http://www.ncbi.nlm.nih.gov/medgen/8154	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0006656	http://purl.obolibrary.org/obo/MONDO_0006656	NANDO:1200251	高安動脈炎	Takayasu arteritis
C0007194	MedGen UID:2881	Hypertrophic cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/2881	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005045	http://purl.obolibrary.org/obo/MONDO_0005045	NANDO:1200288	閉塞性肥大型心筋症	Hypertrophic obstructive cardiomyopathy
C0007196	MedGen UID:40111	Restrictive cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/40111	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005201	http://purl.obolibrary.org/obo/MONDO_0005201	NANDO:1200293	特発性拘束型心筋症	Idiopathic restrictive cardiomyopathy
C0010346	MedGen UID:3664	Crohn disease	http://www.ncbi.nlm.nih.gov/medgen/3664	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005011	http://purl.obolibrary.org/obo/MONDO_0005011	NANDO:1200446	大腸型クローン病	Colonic Crohn's disease
C0012236	MedGen UID:4297	DiGeorge syndrome	http://www.ncbi.nlm.nih.gov/medgen/4297	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008564	http://purl.obolibrary.org/obo/MONDO_0008564	NANDO:1200339	胸腺低形成	Thymus hypoplasia
C0012236	MedGen UID:4297	DiGeorge syndrome	http://www.ncbi.nlm.nih.gov/medgen/4297	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008564	http://purl.obolibrary.org/obo/MONDO_0008564	NANDO:1200688	22q11.2欠失症候群	22q11.2 deletion syndrome
C0206245	MedGen UID:104815	Familial amyloid neuropathy	http://www.ncbi.nlm.nih.gov/medgen/104815	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007100	http://purl.obolibrary.org/obo/MONDO_0007100	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
C0220704	MedGen UID:65085	Velocardiofacial syndrome	http://www.ncbi.nlm.nih.gov/medgen/65085	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008644	http://purl.obolibrary.org/obo/MONDO_0008644	NANDO:1200688	22q11.2欠失症候群	22q11.2 deletion syndrome
C0220704	MedGen UID:65085	Velocardiofacial syndrome	http://www.ncbi.nlm.nih.gov/medgen/65085	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008644	http://purl.obolibrary.org/obo/MONDO_0008644	NANDO:1200339	胸腺低形成	Thymus hypoplasia
C0403416	MedGen UID:96040	Crescentic glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/96040	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0001645	http://purl.obolibrary.org/obo/MONDO_0001645	NANDO:1200714	急速進行性糸球体腎炎	Rapidly progressive glomerulonephritis
C0403529	MedGen UID:140788	Anti-glomerular basement membrane disease	http://www.ncbi.nlm.nih.gov/medgen/140788	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009303	http://purl.obolibrary.org/obo/MONDO_0009303	NANDO:1200717	急速進行性糸球体腎炎（抗GBM抗体陽性）	Anti-GBM rapidly progressive glomerulonephritis
C4083008	MedGen UID:901636	Guillain-Barre syndrome, familial	http://www.ncbi.nlm.nih.gov/medgen/901636	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007691	http://purl.obolibrary.org/obo/MONDO_0007691	NANDO:1200030	慢性炎症性脱髄性多発神経炎	Chronic inflammatory demyelinating polyneuropathy
C0338503	MedGen UID:90926	Septo-optic dysplasia sequence	http://www.ncbi.nlm.nih.gov/medgen/90926	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008428	http://purl.obolibrary.org/obo/MONDO_0008428	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
C0278864	MedGen UID:82999	Growth hormone-producing pituitary gland adenoma	http://www.ncbi.nlm.nih.gov/medgen/82999	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0006238	http://purl.obolibrary.org/obo/MONDO_0006238	NANDO:1200386	下垂体性成長ホルモン分泌亢進症	Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone
C0278864	MedGen UID:82999	Growth hormone-producing pituitary gland adenoma	http://www.ncbi.nlm.nih.gov/medgen/82999	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0006238	http://purl.obolibrary.org/obo/MONDO_0006238	NANDO:1200385	下垂体ゴナドトロピン産生腫瘍	Growth hormone secreting pituitary adenoma
C1868681	MedGen UID:358384	Dystonia 12	http://www.ncbi.nlm.nih.gov/medgen/358384	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007496	http://purl.obolibrary.org/obo/MONDO_0007496	NANDO:1200524	急性発症ジストニア・パーキンソニズム	Rapid-onset dystonia-parkinsonism
C1876161	MedGen UID:406281	Neuronal ceroid lipofuscinosis 2	http://www.ncbi.nlm.nih.gov/medgen/406281	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008769	http://purl.obolibrary.org/obo/MONDO_0008769	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
C0017921	MedGen UID:5340	Glycogen storage disease, type II	http://www.ncbi.nlm.nih.gov/medgen/5340	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009290	http://purl.obolibrary.org/obo/MONDO_0009290	NANDO:1200138	ポンペ病	Pompe disease
C0021345	MedGen UID:7069	Infectious mononucleosis	http://www.ncbi.nlm.nih.gov/medgen/7069	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005810	http://purl.obolibrary.org/obo/MONDO_0005810	NANDO:1200668	ファイファー症候群	Pfeiffer syndrome
C0238190	MedGen UID:68659	Inclusion body myositis	http://www.ncbi.nlm.nih.gov/medgen/68659	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007827	http://purl.obolibrary.org/obo/MONDO_0007827	NANDO:1200218	縁取り空胞を伴う遠位型ミオパチー	Distal myopathy with rimmed vacuoles
C0752282	MedGen UID:156050	Congenital structural myopathy	http://www.ncbi.nlm.nih.gov/medgen/156050	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002921	http://purl.obolibrary.org/obo/MONDO_0002921	NANDO:1200482	中心核ミオパチー	Centronuclear myopathy
C1456275	MedGen UID:1778113	Inborn mitochondrial metabolism disorder	http://www.ncbi.nlm.nih.gov/medgen/1778113	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0004069	http://purl.obolibrary.org/obo/MONDO_0004069	NANDO:1200173	ミトコンドリア病	Mitochondrial diseases
C1850451	MedGen UID:340540	Neuronal ceroid lipofuscinosis 1	http://www.ncbi.nlm.nih.gov/medgen/340540	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009744	http://purl.obolibrary.org/obo/MONDO_0009744	NANDO:1200152	乳児型神経セロイドリポフスチン症	Infantile neuronal ceroid lipofuscinosis
C0001627	MedGen UID:7900	Congenital adrenal hyperplasia	http://www.ncbi.nlm.nih.gov/medgen/7900	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018479	http://purl.obolibrary.org/obo/MONDO_0018479	NANDO:1200396	先天性副腎皮質酵素欠損症	Congenital adrenal enzyme deficiency
C0002874	MedGen UID:8063	Aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/8063	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015909	http://purl.obolibrary.org/obo/MONDO_0015909	NANDO:1200301	MDSとの境界型	Borderline between aplastic anemia and MDS
C0008313	MedGen UID:3036	Sclerosing cholangitis	http://www.ncbi.nlm.nih.gov/medgen/3036	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018646	http://purl.obolibrary.org/obo/MONDO_0018646	NANDO:1200440	原発性硬化性胆管炎	Primary sclerosing cholangitis
C0162678	MedGen UID:58149	Neurofibromatosis	http://www.ncbi.nlm.nih.gov/medgen/58149	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0021061	http://purl.obolibrary.org/obo/MONDO_0021061	NANDO:1200227	神経線維腫症II型	Neurofibromatosis type 2
C0162678	MedGen UID:58149	Neurofibromatosis	http://www.ncbi.nlm.nih.gov/medgen/58149	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0021061	http://purl.obolibrary.org/obo/MONDO_0021061	NANDO:1200226	神経線維腫症I型	Neurofibromatosis type 1
C0175709	MedGen UID:104495	Centronuclear myopathy	http://www.ncbi.nlm.nih.gov/medgen/104495	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018947	http://purl.obolibrary.org/obo/MONDO_0018947	NANDO:1200481	ミオチュブラーミオパチー	Myotubular myopathy
C0410179	MedGen UID:98046	Ullrich congenital muscular dystrophy 1A	http://www.ncbi.nlm.nih.gov/medgen/98046	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009681	http://purl.obolibrary.org/obo/MONDO_0009681	NANDO:1200215	ウルリッヒ病	Ullrich disease
C2584778	MedGen UID:391723	Acquired thrombotic thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/391723	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019740	http://purl.obolibrary.org/obo/MONDO_0019740	NANDO:1200319	後天性二次性血栓性血小板減少性紫斑病	Secondary thrombotic thrombocytopenic purpura
C2931251	MedGen UID:419756	Alpha-mannosidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/419756	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0022424	http://purl.obolibrary.org/obo/MONDO_0022424	NANDO:1200127	乳児型α - マンノシドーシス	Alpha-mannosidosis, infantile form
C2931788	MedGen UID:444141	Atypical hemolytic-uremic syndrome	http://www.ncbi.nlm.nih.gov/medgen/444141	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016244	http://purl.obolibrary.org/obo/MONDO_0016244	NANDO:1200474	先天性非典型溶血性尿毒症症候群	Congenital atypical hemolytic uremic syndrome
C5231388	MedGen UID:1684682	Oculopharyngodistal myopathy 1	http://www.ncbi.nlm.nih.gov/medgen/1684682	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0020793	http://purl.obolibrary.org/obo/MONDO_0020793	NANDO:1200219	眼咽頭遠位型ミオパチー	Oculopharyngodistal myopathy
C0026709	MedGen UID:44514	Mucopolysaccharidosis type 6	http://www.ncbi.nlm.nih.gov/medgen/44514	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	NANDO:1200110	マロトー・ラミー症候群（軽症型）	Maroteaux Lamy syndrome, slowly progressing form
C0026709	MedGen UID:44514	Mucopolysaccharidosis type 6	http://www.ncbi.nlm.nih.gov/medgen/44514	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	NANDO:1200109	マロトー・ラミー症候群（重症型）	Maroteaux Lamy syndrome, rapidly progressing form
C0027831	MedGen UID:18013	Neurofibromatosis, type 1	http://www.ncbi.nlm.nih.gov/medgen/18013	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018975	http://purl.obolibrary.org/obo/MONDO_0018975	NANDO:1200225	神経線維腫症	Neurofibromatosis
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	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
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	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
C0393547	MedGen UID:95977	Bulbospinal muscular atrophy	http://www.ncbi.nlm.nih.gov/medgen/95977	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016113	http://purl.obolibrary.org/obo/MONDO_0016113	NANDO:1200001	球脊髄性筋萎縮症	Spinal and bulbar muscular atrophy
C3489796	MedGen UID:483749	Thyroid hormone resistance, generalized, autosomal recessive	http://www.ncbi.nlm.nih.gov/medgen/483749	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010131	http://purl.obolibrary.org/obo/MONDO_0010131	NANDO:1200395	甲状腺ホルモン不応症	Resistance to thyroid hormone
C3537440	MedGen UID:760976	Infantile nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/760976	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018467	http://purl.obolibrary.org/obo/MONDO_0018467	NANDO:1200162	腎型シスチン症	Nephropathic cystinosis
C3698354	MedGen UID:785618	Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	http://www.ncbi.nlm.nih.gov/medgen/785618	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018554	http://purl.obolibrary.org/obo/MONDO_0018554	NANDO:1200428	肺毛細血管腫症	Pulmonary capillary hemangiomatosis
C3808553	MedGen UID:814883	Autosomal dominant aplasia and myelodysplasia	http://www.ncbi.nlm.nih.gov/medgen/814883	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0013851	http://purl.obolibrary.org/obo/MONDO_0013851	NANDO:1200301	MDSとの境界型	Borderline between aplastic anemia and MDS
C4282398	MedGen UID:924303	Sialidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/924303	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	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
C4721555	MedGen UID:1666753	Autoimmune hepatitis	http://www.ncbi.nlm.nih.gov/medgen/1666753	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016264	http://purl.obolibrary.org/obo/MONDO_0016264	NANDO:1200442	自己免疫性肝炎（典型例）	Typical autoimmune hepatitis
C0342482	MedGen UID:87442	Congenital adrenal hypoplasia, X-linked	http://www.ncbi.nlm.nih.gov/medgen/87442	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010264	http://purl.obolibrary.org/obo/MONDO_0010264	NANDO:1200403	先天性副腎低形成症	Congenital adrenal hypoplasia
C0038522	MedGen UID:52527	Subacute sclerosing panencephalitis	http://www.ncbi.nlm.nih.gov/medgen/52527	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	NANDO:1200196	亜急性硬化性全脳炎（典型）	Typical subacute sclerosing panencephalitis
C0038522	MedGen UID:52527	Subacute sclerosing panencephalitis	http://www.ncbi.nlm.nih.gov/medgen/52527	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	NANDO:1200198	亜急性進行型硬化性全脳炎	Subacute progressive sclerosing panencephalitis
C0043208	MedGen UID:53088	Wolman disease	http://www.ncbi.nlm.nih.gov/medgen/53088	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	NANDO:1200142	酸性リパーゼ欠損症	Acid lipase deficiency
C5399975	MedGen UID:1728314	Myopathy, distal, with rimmed vacuoles	http://www.ncbi.nlm.nih.gov/medgen/1728314	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0014945	http://purl.obolibrary.org/obo/MONDO_0014945	NANDO:1200218	縁取り空胞を伴う遠位型ミオパチー	Distal myopathy with rimmed vacuoles
C0238378	MedGen UID:65962	Desquamative interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/65962	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009887	http://purl.obolibrary.org/obo/MONDO_0009887	NANDO:1200423	呼吸細気管支炎関連間質性肺炎	Respiratory bronchiolitis-associated interstitial lung disease
C1527336	MedGen UID:282890	Sjogren syndrome	http://www.ncbi.nlm.nih.gov/medgen/282890	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	NANDO:1200280	一次性シェーグレン症候群	Primary Sjogren's syndrome
CN257533	MedGen UID:940569	Mitochondrial complex I deficiency, nuclear type 1	http://www.ncbi.nlm.nih.gov/medgen/940569	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0100224	http://purl.obolibrary.org/obo/MONDO_0100224	NANDO:1200180	複合体I欠損症	Mitochondrial complex I deficiency
CN294181	MedGen UID:977689	22q11.2 deletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/977689	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018923	http://purl.obolibrary.org/obo/MONDO_0018923	NANDO:1200339	胸腺低形成	Thymus hypoplasia
C1704375	MedGen UID:309957	Hypophosphatemic rickets	http://www.ncbi.nlm.nih.gov/medgen/309957	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0024300	http://purl.obolibrary.org/obo/MONDO_0024300	NANDO:1200778	ビタミンD抵抗性くる病/骨軟化症	Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia
C1704375	MedGen UID:309957	Hypophosphatemic rickets	http://www.ncbi.nlm.nih.gov/medgen/309957	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0024300	http://purl.obolibrary.org/obo/MONDO_0024300	NANDO:1200780	ビタミンD抵抗性骨軟化症	Vitamin D-resistant osteomalacia
C0221239	MedGen UID:113155	Rapidly progressive glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/113155	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017236	http://purl.obolibrary.org/obo/MONDO_0017236	NANDO:1200723	半月体形成性糸球体腎炎	Crescentic glomerulonephritis
C1970472	MedGen UID:410079	Autoimmune pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/410079	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012579	http://purl.obolibrary.org/obo/MONDO_0012579	NANDO:1200748	特発性肺胞蛋白症	Idiopathic pulmonary alveolar proteinosis
C2931845	MedGen UID:444156	Neurodegeneration with brain iron accumulation	http://www.ncbi.nlm.nih.gov/medgen/444156	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018307	http://purl.obolibrary.org/obo/MONDO_0018307	NANDO:1200539	脳内鉄沈着神経変性症3型	Neurodegeneration with brain iron accumulation type 3
C2931845	MedGen UID:444156	Neurodegeneration with brain iron accumulation	http://www.ncbi.nlm.nih.gov/medgen/444156	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018307	http://purl.obolibrary.org/obo/MONDO_0018307	NANDO:1200542	脳内鉄沈着神経変性症	Neurodegeneration with brain iron accumulation
C0030805	MedGen UID:10620	Bullous pemphigoid	http://www.ncbi.nlm.nih.gov/medgen/10620	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019082	http://purl.obolibrary.org/obo/MONDO_0019082	NANDO:1200632	類天疱瘡	Pemphigoid (including Epidermolysis bullosa acquisita)
C0031485	MedGen UID:19244	Phenylketonuria	http://www.ncbi.nlm.nih.gov/medgen/19244	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	NANDO:1200785	フェニルアラニン水酸化酵素欠損症	Phenylalanine hydroxylase deficiency
C0268238	MedGen UID:82780	Triglyceride storage disease with ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/82780	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010155	http://purl.obolibrary.org/obo/MONDO_0010155	NANDO:1200623	中性脂肪蓄積症	Neutral lipid storage disease with ichthyosis
C0268342	MedGen UID:75672	Ehlers-Danlos syndrome, kyphoscoliotic type 1	http://www.ncbi.nlm.nih.gov/medgen/75672	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016002	http://purl.obolibrary.org/obo/MONDO_0016002	NANDO:1200649	後側彎型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, kyphoscoliotic type
C3496228	MedGen UID:501249	Hereditary spastic paraplegia 35	http://www.ncbi.nlm.nih.gov/medgen/501249	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012866	http://purl.obolibrary.org/obo/MONDO_0012866	NANDO:1200541	FAHN	Fatty acid hydroxylase-associated neurodegeneration
C3711368	MedGen UID:777976	Hereditary pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/777976	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012580	http://purl.obolibrary.org/obo/MONDO_0012580	NANDO:1200746	肺胞蛋白症	Pulmonary alveolar proteinosis
C4273131	MedGen UID:1636666	Branchiootic syndrome	http://www.ncbi.nlm.nih.gov/medgen/1636666	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018878	http://purl.obolibrary.org/obo/MONDO_0018878	NANDO:1200675	鰓耳腎症候群	Branchio-oto-renal syndrome
C0079154	MedGen UID:38180	Congenital nonbullous ichthyosiform erythroderma	http://www.ncbi.nlm.nih.gov/medgen/38180	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019306	http://purl.obolibrary.org/obo/MONDO_0019306	NANDO:1200617	葉状魚鱗癬	Lamellar ichthyosis
C0344616	MedGen UID:87489	Congenitally corrected transposition of the great arteries	http://www.ncbi.nlm.nih.gov/medgen/87489	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016301	http://purl.obolibrary.org/obo/MONDO_0016301	NANDO:1200701	完全大血管転位症II型	Complete transposition of the great arteries (Group2)
C0733682	MedGen UID:196551	Familial X-linked hypophosphatemic vitamin D refractory rickets	http://www.ncbi.nlm.nih.gov/medgen/196551	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010619	http://purl.obolibrary.org/obo/MONDO_0010619	NANDO:1200779	ビタミンD抵抗性くる病	Vitamin D-resistant rickets
C1839780	MedGen UID:333403	Fragile X-associated tremor/ataxia syndrome	http://www.ncbi.nlm.nih.gov/medgen/333403	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010382	http://purl.obolibrary.org/obo/MONDO_0010382	NANDO:1200690	脆弱Ｘ症候群関連疾患	Fragile X syndrome related diseases
C4551966	MedGen UID:1645412	Encephalopathy due to GLUT1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/1645412	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011724	http://purl.obolibrary.org/obo/MONDO_0011724	NANDO:1200799	グルコーストランスポーター1欠損症	Glucose transporter 1 deficiency
C0035372	MedGen UID:48441	Rett syndrome	http://www.ncbi.nlm.nih.gov/medgen/48441	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010726	http://purl.obolibrary.org/obo/MONDO_0010726	NANDO:1200604	典型的レット症候群	Typical Rett syndrome
C0037917	MedGen UID:21277	Spina bifida cystica	http://www.ncbi.nlm.nih.gov/medgen/21277	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017069	http://purl.obolibrary.org/obo/MONDO_0017069	NANDO:1200509	脊髄髄膜瘤	Myelomeningocele
C0039144	MedGen UID:21449	Syringomyelia	http://www.ncbi.nlm.nih.gov/medgen/21449	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017987	http://purl.obolibrary.org/obo/MONDO_0017987	NANDO:1200507	症候性脊髄空洞症	Symptomatic syringomyelia
C0078918	MedGen UID:36250	Oculocutaneous albinism	http://www.ncbi.nlm.nih.gov/medgen/36250	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018910	http://purl.obolibrary.org/obo/MONDO_0018910	NANDO:1200641	非症候型眼皮膚白皮症	Non-syndromic oculocutaneous albinism
C2748783	MedGen UID:411667	Vitamin D-dependent rickets, type 2B	http://www.ncbi.nlm.nih.gov/medgen/411667	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010931	http://purl.obolibrary.org/obo/MONDO_0010931	NANDO:1200779	ビタミンD抵抗性くる病	Vitamin D-resistant rickets
C4518639	MedGen UID:1381392	Epilepsy of infancy with migrating focal seizures	http://www.ncbi.nlm.nih.gov/medgen/1381392	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0100025	http://purl.obolibrary.org/obo/MONDO_0100025	NANDO:1200595	遊走性焦点発作を伴う乳児てんかん	Epilepsy of infancy with migrating focal seizures
C0878682	MedGen UID:168057	Deficiency of ferroxidase	http://www.ncbi.nlm.nih.gov/medgen/168057	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011426	http://purl.obolibrary.org/obo/MONDO_0011426	NANDO:1200540	脳内鉄沈着神経変性症4型	Neurodegeneration with brain iron accumulation type 4
C5679811	MedGen UID:1843053	Congenitally uncorrected transposition of the great arteries with cardiac malformation	http://www.ncbi.nlm.nih.gov/medgen/1843053	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016303	http://purl.obolibrary.org/obo/MONDO_0016303	NANDO:1200701	完全大血管転位症II型	Complete transposition of the great arteries (Group2)
CN293953	MedGen UID:978511	Neutral lipid storage disease	http://www.ncbi.nlm.nih.gov/medgen/978511	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015611	http://purl.obolibrary.org/obo/MONDO_0015611	NANDO:1200622	ドルフマン・シャナリン症候群	Dorfman-Chanarin syndrome
CN311573	MedGen UID:992104	Thomsen and Becker disease	http://www.ncbi.nlm.nih.gov/medgen/992104	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009710	http://purl.obolibrary.org/obo/MONDO_0009710	NANDO:1200498	トムゼン病	Thomsen disease
C0010674	MedGen UID:41393	Cystic fibrosis	http://www.ncbi.nlm.nih.gov/medgen/41393	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009061	http://purl.obolibrary.org/obo/MONDO_0009061	NANDO:1201021	膵囊胞線維症	Pancreatic cystic fibrosis
C0206245	MedGen UID:104815	Familial amyloid neuropathy	http://www.ncbi.nlm.nih.gov/medgen/104815	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007100	http://purl.obolibrary.org/obo/MONDO_0007100	NANDO:1201060	家族性アミロイドニューロパチーI型	Familial amyloid polyneuropathy type 1
C0023465	MedGen UID:7319	Acute monocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/7319	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007896	http://purl.obolibrary.org/obo/MONDO_0007896	NANDO:2200008	急性骨髄単球性白血病	Acute monocytic leukemia
C0027122	MedGen UID:6503	Myositis ossificans	http://www.ncbi.nlm.nih.gov/medgen/6503	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003964	http://purl.obolibrary.org/obo/MONDO_0003964	NANDO:1200871	進行性骨化性線維異形成症	Fibrodysplasia ossificans progressiva
C0029436	MedGen UID:45247	Disappearing bone disease	http://www.ncbi.nlm.nih.gov/medgen/45247	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003157	http://purl.obolibrary.org/obo/MONDO_0003157	NANDO:1200878	リンパ管腫症/ゴーハム病	Lymphangiomatosis / Gorham-Stout disease
C0398686	MedGen UID:585013	Inborn error of immunity	http://www.ncbi.nlm.nih.gov/medgen/585013	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003778	http://purl.obolibrary.org/obo/MONDO_0003778	NANDO:2100204	免疫不全を伴う特徴的な症候群	Immunodeficiency
C0432227	MedGen UID:96583	Brachyrachia (short spine dysplasia)	http://www.ncbi.nlm.nih.gov/medgen/96583	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007232	http://purl.obolibrary.org/obo/MONDO_0007232	NANDO:1201102	短体幹症	Brachyolmia, autosomal dominant type
C4692546	MedGen UID:1643471	Protoporphyria, erythropoietic, 1	http://www.ncbi.nlm.nih.gov/medgen/1643471	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008319	http://purl.obolibrary.org/obo/MONDO_0008319	NANDO:1200815	赤芽球性プロトポルフィリン症	Erythropoietic protoporphyria
C0085280	MedGen UID:39014	Arteriohepatic dysplasia	http://www.ncbi.nlm.nih.gov/medgen/39014	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007318	http://purl.obolibrary.org/obo/MONDO_0007318	NANDO:1200919	アラジール症候群典型例	Typical Alagille syndrome
C0339427	MedGen UID:573145	Partial central choroid dystrophy	http://www.ncbi.nlm.nih.gov/medgen/573145	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0004890	http://purl.obolibrary.org/obo/MONDO_0004890	NANDO:1200939	中心性輪紋状脈絡膜ジストロフィー	Central areolar choroidal dystrophy
C0280634	MedGen UID:128856	Adult acute monocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/128856	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0000875	http://purl.obolibrary.org/obo/MONDO_0000875	NANDO:2200008	急性骨髄単球性白血病	Acute monocytic leukemia
C0280634	MedGen UID:128856	Adult acute monocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/128856	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0000875	http://purl.obolibrary.org/obo/MONDO_0000875	NANDO:2200009	急性単球性白血病	Acute monocytic leukemia
C0014084	MedGen UID:41775	Enchondromatosis	http://www.ncbi.nlm.nih.gov/medgen/41775	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008145	http://purl.obolibrary.org/obo/MONDO_0008145	NANDO:2200049	骨軟骨腫症	Osteochondromatosis
C0015306	MedGen UID:4612	Multiple congenital exostosis	http://www.ncbi.nlm.nih.gov/medgen/4612	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005508	http://purl.obolibrary.org/obo/MONDO_0005508	NANDO:2200049	骨軟骨腫症	Osteochondromatosis
C0017919	MedGen UID:6639	Glycogen storage disease	http://www.ncbi.nlm.nih.gov/medgen/6639	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002412	http://purl.obolibrary.org/obo/MONDO_0002412	NANDO:1200838	肝型糖原病	Hepatic glycogen storage disease
C0017920	MedGen UID:6640	Glycogen storage disease, type I	http://www.ncbi.nlm.nih.gov/medgen/6640	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002413	http://purl.obolibrary.org/obo/MONDO_0002413	NANDO:1200840	肝型糖原病Ia型	Hepatic glycogen storage disease type Ia
C0017922	MedGen UID:6641	Glycogen storage disease type III	http://www.ncbi.nlm.nih.gov/medgen/6641	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	NANDO:1200844	肝型糖原病IIIc型	Hepatic glycogen storage disease type IIIc
C0017922	MedGen UID:6641	Glycogen storage disease type III	http://www.ncbi.nlm.nih.gov/medgen/6641	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	NANDO:1201019	肝型糖原病III型	Hepatic glycogen storage disease type III
C0017923	MedGen UID:6642	Glycogen storage disease, type IV	http://www.ncbi.nlm.nih.gov/medgen/6642	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009292	http://purl.obolibrary.org/obo/MONDO_0009292	NANDO:1200850	肝型糖原病IV型	Hepatic glycogen storage disease type IV
C0017926	MedGen UID:5342	Glycogen storage disease, type VII	http://www.ncbi.nlm.nih.gov/medgen/5342	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009295	http://purl.obolibrary.org/obo/MONDO_0009295	NANDO:1200823	筋型糖原病	Muscle glycogen storage disease
C1332206	MedGen UID:233965	Adult lymphoma	http://www.ncbi.nlm.nih.gov/medgen/233965	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003660	http://purl.obolibrary.org/obo/MONDO_0003660	NANDO:2100004	リンパ腫	Lymphoma
C1332977	MedGen UID:234132	Childhood leukemia	http://www.ncbi.nlm.nih.gov/medgen/234132	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0004355	http://purl.obolibrary.org/obo/MONDO_0004355	NANDO:2100002	白血病	Leukemia
C1332979	MedGen UID:232062	Pediatric lymphoma	http://www.ncbi.nlm.nih.gov/medgen/232062	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003659	http://purl.obolibrary.org/obo/MONDO_0003659	NANDO:2100004	リンパ腫	Lymphoma
C1332986	MedGen UID:272464	Pediatric osteosarcoma	http://www.ncbi.nlm.nih.gov/medgen/272464	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002623	http://purl.obolibrary.org/obo/MONDO_0002623	NANDO:2200048	骨肉腫	Osteosarcoma
C1456275	MedGen UID:1778113	Inborn mitochondrial metabolism disorder	http://www.ncbi.nlm.nih.gov/medgen/1778113	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0004069	http://purl.obolibrary.org/obo/MONDO_0004069	NANDO:2100163	ミトコンドリア病	Mitochondrial diseases
CN375949	MedGen UID:1052115	Renal cell adenocarcinoma	http://www.ncbi.nlm.nih.gov/medgen/1052115	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005549	http://purl.obolibrary.org/obo/MONDO_0005549	NANDO:2200045	腎細胞癌	Renal cell carcinoma
C0268389	MedGen UID:82799	Familial visceral amyloidosis, Ostertag type	http://www.ncbi.nlm.nih.gov/medgen/82799	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007099	http://purl.obolibrary.org/obo/MONDO_0007099	NANDO:2200138	アミロイド腎	Amyloid nephropathy
C0278510	MedGen UID:75829	Childhood medulloblastoma	http://www.ncbi.nlm.nih.gov/medgen/75829	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002797	http://purl.obolibrary.org/obo/MONDO_0002797	NANDO:2200090	髄芽腫	Medulloblastoma
C0278595	MedGen UID:75840	Adult fibrosarcoma	http://www.ncbi.nlm.nih.gov/medgen/75840	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002676	http://purl.obolibrary.org/obo/MONDO_0002676	NANDO:2200060	線維肉腫	Fibrosarcoma
C0278608	MedGen UID:75842	Adult liposarcoma	http://www.ncbi.nlm.nih.gov/medgen/75842	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003585	http://purl.obolibrary.org/obo/MONDO_0003585	NANDO:2200065	脂肪肉腫	Liposarcoma
C0278876	MedGen UID:78898	Adult medulloblastoma	http://www.ncbi.nlm.nih.gov/medgen/78898	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002794	http://purl.obolibrary.org/obo/MONDO_0002794	NANDO:2200090	髄芽腫	Medulloblastoma
C0279070	MedGen UID:75924	Adult oligodendroglioma	http://www.ncbi.nlm.nih.gov/medgen/75924	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002543	http://purl.obolibrary.org/obo/MONDO_0002543	NANDO:2200089	乏突起神経膠腫	Oligodendroglioma
C0279981	MedGen UID:124685	Pediatric fibrosarcoma	http://www.ncbi.nlm.nih.gov/medgen/124685	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002678	http://purl.obolibrary.org/obo/MONDO_0002678	NANDO:2200060	線維肉腫	Fibrosarcoma
C0279984	MedGen UID:83580	Pediatric liposarcoma	http://www.ncbi.nlm.nih.gov/medgen/83580	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003587	http://purl.obolibrary.org/obo/MONDO_0003587	NANDO:2200065	脂肪肉腫	Liposarcoma
C0280475	MedGen UID:76116	Childhood oligodendroglioma	http://www.ncbi.nlm.nih.gov/medgen/76116	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002540	http://purl.obolibrary.org/obo/MONDO_0002540	NANDO:2200089	乏突起神経膠腫	Oligodendroglioma
C0280656	MedGen UID:79156	Pediatric meningioma	http://www.ncbi.nlm.nih.gov/medgen/79156	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003057	http://purl.obolibrary.org/obo/MONDO_0003057	NANDO:2200094	髄膜腫	Meningioma
C0020544	MedGen UID:5700	Renal hypertension	http://www.ncbi.nlm.nih.gov/medgen/5700	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0001105	http://purl.obolibrary.org/obo/MONDO_0001105	NANDO:2200141	腎血管性高血圧	Renovascular hypertension
C0265756	MedGen UID:78572	Laryngeal atresia	http://www.ncbi.nlm.nih.gov/medgen/78572	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007879	http://purl.obolibrary.org/obo/MONDO_0007879	NANDO:2200190	喉頭狭窄	Laryngeal stenosis
C1332993	MedGen UID:234136	Childhood ovarian yolk sac tumor	http://www.ncbi.nlm.nih.gov/medgen/234136	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003759	http://purl.obolibrary.org/obo/MONDO_0003759	NANDO:2200069	卵黄嚢腫	Yolk sac tumour
C1332995	MedGen UID:232355	Childhood pilocytic astrocytoma	http://www.ncbi.nlm.nih.gov/medgen/232355	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0004000	http://purl.obolibrary.org/obo/MONDO_0004000	NANDO:2200084	毛様細胞性星細胞腫	Pilocytic astrocytoma
C1846058	MedGen UID:337496	Syndromic X-linked intellectual disability Lubs type	http://www.ncbi.nlm.nih.gov/medgen/337496	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010283	http://purl.obolibrary.org/obo/MONDO_0010283	NANDO:1201095	MECP2重複症候群	MECP2 Duplication Syndrome
C0002726	MedGen UID:272	Amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/272	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019065	http://purl.obolibrary.org/obo/MONDO_0019065	NANDO:2200138	アミロイド腎	Amyloid nephropathy
C0008780	MedGen UID:3467	Primary ciliary dyskinesia	http://www.ncbi.nlm.nih.gov/medgen/3467	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	NANDO:1201097	カルタゲナー症候群	Kartagener syndrome
C0205828	MedGen UID:104729	Cavernous lymphangioma	http://www.ncbi.nlm.nih.gov/medgen/104729	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019328	http://purl.obolibrary.org/obo/MONDO_0019328	NANDO:1200881	巨大リンパ管奇形（頚部顔面病変）	Giant lymphatic malformation (cervicofacial lesion)
C0206138	MedGen UID:60083	CREST syndrome	http://www.ncbi.nlm.nih.gov/medgen/60083	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019563	http://purl.obolibrary.org/obo/MONDO_0019563	NANDO:1201011	限局皮膚硬化型全身性強皮症	Limited cutaneous systemic sclerosis
C0431375	MedGen UID:98463	Classic lissencephaly	http://www.ncbi.nlm.nih.gov/medgen/98463	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015146	http://purl.obolibrary.org/obo/MONDO_0015146	NANDO:1201069	厚脳回	Pachygyria
C0431375	MedGen UID:98463	Classic lissencephaly	http://www.ncbi.nlm.nih.gov/medgen/98463	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015146	http://purl.obolibrary.org/obo/MONDO_0015146	NANDO:1201068	無脳回	Agyria
C2347761	MedGen UID:389541	Childhood myelodysplastic syndrome	http://www.ncbi.nlm.nih.gov/medgen/389541	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0044873	http://purl.obolibrary.org/obo/MONDO_0044873	NANDO:2200019	骨髄異形成症候群	Myelodysplastic syndrome
C2931345	MedGen UID:419390	Glycogen storage disease type 1 due to SLC37A4 mutation	http://www.ncbi.nlm.nih.gov/medgen/419390	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0023258	http://purl.obolibrary.org/obo/MONDO_0023258	NANDO:1200841	肝型糖原病Ib型	Hepatic glycogen storage disease type Ib
C0023195	MedGen UID:9698	Norum disease	http://www.ncbi.nlm.nih.gov/medgen/9698	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009515	http://purl.obolibrary.org/obo/MONDO_0009515	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
C0265836	MedGen UID:539527	Congenital tricuspid stenosis	http://www.ncbi.nlm.nih.gov/medgen/539527	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019813	http://purl.obolibrary.org/obo/MONDO_0019813	NANDO:1200962	先天性三尖弁狭窄症	Congenital tricuspid stenosis
C0349636	MedGen UID:83896	Precursor B-cell acute lymphoblastic leukemia	http://www.ncbi.nlm.nih.gov/medgen/83896	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0020511	http://purl.obolibrary.org/obo/MONDO_0020511	NANDO:2200022	Bリンパ芽球性リンパ腫	Precursor B lymphoblastic lymphoma
C0349639	MedGen UID:138109	Juvenile myelomonocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/138109	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011908	http://purl.obolibrary.org/obo/MONDO_0011908	NANDO:2200014	慢性骨髄単球性白血病	Chronic myelomonocytic leukemia
C0396051	MedGen UID:97973	Congenital subglottic stenosis	http://www.ncbi.nlm.nih.gov/medgen/97973	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015395	http://purl.obolibrary.org/obo/MONDO_0015395	NANDO:2200190	喉頭狭窄	Laryngeal stenosis
C0398691	MedGen UID:140768	Hyperimmunoglobulin D with periodic fever	http://www.ncbi.nlm.nih.gov/medgen/140768	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009849	http://purl.obolibrary.org/obo/MONDO_0009849	NANDO:1200866	高IgD症候群	Hyper IgD syndrome
C0549473	MedGen UID:107811	Thyroid gland carcinoma	http://www.ncbi.nlm.nih.gov/medgen/107811	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015075	http://purl.obolibrary.org/obo/MONDO_0015075	NANDO:2200074	甲状腺癌	Thyroid cancer
C1855681	MedGen UID:343406	Nephronophthisis 1	http://www.ncbi.nlm.nih.gov/medgen/343406	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009728	http://purl.obolibrary.org/obo/MONDO_0009728	NANDO:1201036	ネフロン癆	Nephronophthisis
C1855681	MedGen UID:343406	Nephronophthisis 1	http://www.ncbi.nlm.nih.gov/medgen/343406	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009728	http://purl.obolibrary.org/obo/MONDO_0009728	NANDO:2200140	ネフロン癆	Nephronophthisis
C1855861	MedGen UID:343430	Glycogen storage disorder due to hepatic glycogen synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/343430	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	NANDO:1200838	肝型糖原病	Hepatic glycogen storage disease
C3203653	MedGen UID:473761	IgG4-related disease	http://www.ncbi.nlm.nih.gov/medgen/473761	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017287	http://purl.obolibrary.org/obo/MONDO_0017287	NANDO:1200924	IgG4関連疾患包括	IgG4-related disease
C3495801	MedGen UID:811223	Granulomatosis with polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/811223	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012105	http://purl.obolibrary.org/obo/MONDO_0012105	NANDO:1201009	全身型多発血管炎性肉芽腫症	Systemic granulomatosis with polyangiitis
C4225313	MedGen UID:907426	Bethlem myopathy 2	http://www.ncbi.nlm.nih.gov/medgen/907426	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0034022	http://purl.obolibrary.org/obo/MONDO_0034022	NANDO:1201090	ミオパチー型エーラス・ダンロス症候群	Myopathic Ehlers-Danlos syndrome
C4693870	MedGen UID:1632001	Ehlers-Danlos syndrome, classic-like, 2	http://www.ncbi.nlm.nih.gov/medgen/1632001	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0054813	http://purl.obolibrary.org/obo/MONDO_0054813	NANDO:1201085	類古典型エーラス・ダンロス症候群	Classical-like Ehlers-Danlos syndrome
C0345217	MedGen UID:83377	Cloacal exstrophy	http://www.ncbi.nlm.nih.gov/medgen/83377	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009774	http://purl.obolibrary.org/obo/MONDO_0009774	NANDO:1200910	総排泄腔遺残	Persistent cloaca
C0684337	MedGen UID:151926	Peripheral primitive neuroectodermal tumor	http://www.ncbi.nlm.nih.gov/medgen/151926	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018271	http://purl.obolibrary.org/obo/MONDO_0018271	NANDO:2200054	未分化神経外胚葉性腫瘍（末梢性のものに限る。）	Primitive neuroectodermal tumors
C0687120	MedGen UID:146912	Nephronophthisis	http://www.ncbi.nlm.nih.gov/medgen/146912	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019005	http://purl.obolibrary.org/obo/MONDO_0019005	NANDO:2200170	髄質嚢胞腎	Medullary cystic kidney
C3899655	MedGen UID:859249	Langerhans cell histiocytosis specific to childhood	http://www.ncbi.nlm.nih.gov/medgen/859249	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017025	http://purl.obolibrary.org/obo/MONDO_0017025	NANDO:2200031	ランゲルハンス細胞組織球症	Langerhans cell histiocytosis
C3900100	MedGen UID:859694	Langerhans cell histiocytosis specific to adulthood	http://www.ncbi.nlm.nih.gov/medgen/859694	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017029	http://purl.obolibrary.org/obo/MONDO_0017029	NANDO:2200031	ランゲルハンス細胞組織球症	Langerhans cell histiocytosis
C0278878	MedGen UID:124527	Adult glioblastoma	http://www.ncbi.nlm.nih.gov/medgen/124527	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0020690	http://purl.obolibrary.org/obo/MONDO_0020690	NANDO:2200087	膠芽腫	Glioblastoma
C1959626	MedGen UID:368373	Mevalonic aciduria	http://www.ncbi.nlm.nih.gov/medgen/368373	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012481	http://purl.obolibrary.org/obo/MONDO_0012481	NANDO:1200866	高IgD症候群	Hyper IgD syndrome
C0243002	MedGen UID:67034	Tricuspid atresia	http://www.ncbi.nlm.nih.gov/medgen/67034	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011514	http://purl.obolibrary.org/obo/MONDO_0011514	NANDO:1200962	先天性三尖弁狭窄症	Congenital tricuspid stenosis
C1301357	MedGen UID:226983	Acute leukemia of ambiguous lineage	http://www.ncbi.nlm.nih.gov/medgen/226983	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019460	http://purl.obolibrary.org/obo/MONDO_0019460	NANDO:2200018	混合型急性白血病	Mixed phenotype acute leukemia
C1301357	MedGen UID:226983	Acute leukemia of ambiguous lineage	http://www.ncbi.nlm.nih.gov/medgen/226983	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019460	http://purl.obolibrary.org/obo/MONDO_0019460	NANDO:2200017	急性未分化型白血病	Acute undifferentiated leukemia
C5680977	MedGen UID:1842686	TRPV4-related bone disorder	http://www.ncbi.nlm.nih.gov/medgen/1842686	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018240	http://purl.obolibrary.org/obo/MONDO_0018240	NANDO:1201098	TRPV4異常症	Transient receptor potential cation channel, vanilloid subfamily, member 4 (TRPV4) -associated disorders
CN283243	MedGen UID:966646	Autosomal erythropoietic protoporphyria	http://www.ncbi.nlm.nih.gov/medgen/966646	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019263	http://purl.obolibrary.org/obo/MONDO_0019263	NANDO:1200815	赤芽球性プロトポルフィリン症	Erythropoietic protoporphyria
CN295299	MedGen UID:976464	Citrullinemia, type II, adult-onset	http://www.ncbi.nlm.nih.gov/medgen/976464	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011326	http://purl.obolibrary.org/obo/MONDO_0011326	NANDO:1200980	成人発症II型シトルリン血症	Adult-onset type II citrullinemia
CN304703	MedGen UID:988496	Primary membranoproliferative glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/988496	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018904	http://purl.obolibrary.org/obo/MONDO_0018904	NANDO:2200123	膜性増殖性糸球体腎炎	Membranoproliferative glomerulonephritis
C0008780	MedGen UID:3467	Primary ciliary dyskinesia	http://www.ncbi.nlm.nih.gov/medgen/3467	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	NANDO:2200204	カルタゲナー症候群	Kartagener syndrome
C0149530	MedGen UID:57432	Congenital heart block	http://www.ncbi.nlm.nih.gov/medgen/57432	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009326	http://purl.obolibrary.org/obo/MONDO_0009326	NANDO:2200214	完全房室ブロック	Complete atrio-ventricular block
C5574922	MedGen UID:1803763	Catecholaminergic polymorphic ventricular tachycardia	http://www.ncbi.nlm.nih.gov/medgen/1803763	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017990	http://purl.obolibrary.org/obo/MONDO_0017990	NANDO:2200216	多源性心室期外収縮	Polymorphic ventricular premature beat
C1852093	MedGen UID:377589	Maturity-onset diabetes of the young type 1	http://www.ncbi.nlm.nih.gov/medgen/377589	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007452	http://purl.obolibrary.org/obo/MONDO_0007452	NANDO:2200461	2型糖尿病	Diabetes mellitus type 2
C1852700	MedGen UID:343867	C1 inhibitor deficiency	http://www.ncbi.nlm.nih.gov/medgen/343867	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007361	http://purl.obolibrary.org/obo/MONDO_0007361	NANDO:2200795	遺伝性血管性浮腫	Hereditary angioedema
C0003492	MedGen UID:1617	Coarctation of aorta	http://www.ncbi.nlm.nih.gov/medgen/1617	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007345	http://purl.obolibrary.org/obo/MONDO_0007345	NANDO:2200284	大動脈縮窄複合	Coarctation complex
C0003509	MedGen UID:8154	Aortitis	http://www.ncbi.nlm.nih.gov/medgen/8154	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0006656	http://purl.obolibrary.org/obo/MONDO_0006656	NANDO:2200423	高安動脈炎	Takayasu arteritis
C0004239	MedGen UID:13955	Atrial flutter	http://www.ncbi.nlm.nih.gov/medgen/13955	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005310	http://purl.obolibrary.org/obo/MONDO_0005310	NANDO:2200218	多源性心房頻拍	Multiple atrial tachycardia
C0007095	MedGen UID:2838	Carcinoid tumor	http://www.ncbi.nlm.nih.gov/medgen/2838	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005369	http://purl.obolibrary.org/obo/MONDO_0005369	NANDO:2200396	カルチノイド症候群	Carcinoid syndrome
C0007194	MedGen UID:2881	Hypertrophic cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/2881	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005045	http://purl.obolibrary.org/obo/MONDO_0005045	NANDO:2201042	閉塞性肥大型心筋症	Hypertrophic obstructive cardiomyopathy
C0012236	MedGen UID:4297	DiGeorge syndrome	http://www.ncbi.nlm.nih.gov/medgen/4297	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008564	http://purl.obolibrary.org/obo/MONDO_0008564	NANDO:2200712	胸腺低形成	Thymus hypoplasia
C0220704	MedGen UID:65085	Velocardiofacial syndrome	http://www.ncbi.nlm.nih.gov/medgen/65085	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008644	http://purl.obolibrary.org/obo/MONDO_0008644	NANDO:2200712	胸腺低形成	Thymus hypoplasia
C0023786	MedGen UID:44171	Mucopolysaccharidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/44171	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0001586	http://purl.obolibrary.org/obo/MONDO_0001586	NANDO:2201168	Hurler病	Hurler Disease
C0025268	MedGen UID:9958	Multiple endocrine neoplasia type 2A	http://www.ncbi.nlm.nih.gov/medgen/9958	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008234	http://purl.obolibrary.org/obo/MONDO_0008234	NANDO:2200406	多発性内分泌腫瘍2型	Multiple endocrine neoplasia type 2
C0027122	MedGen UID:6503	Myositis ossificans	http://www.ncbi.nlm.nih.gov/medgen/6503	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003964	http://purl.obolibrary.org/obo/MONDO_0003964	NANDO:2201020	進行性骨化性線維異形成症	Fibrodysplasia ossificans progressiva
C0268543	MedGen UID:120649	Hyperammonemia, type III	http://www.ncbi.nlm.nih.gov/medgen/120649	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009377	http://purl.obolibrary.org/obo/MONDO_0009377	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
C0546959	MedGen UID:107485	atrial tachycardia	http://www.ncbi.nlm.nih.gov/medgen/107485	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005479	http://purl.obolibrary.org/obo/MONDO_0005479	NANDO:2200218	多源性心房頻拍	Multiple atrial tachycardia
C4083008	MedGen UID:901636	Guillain-Barre syndrome, familial	http://www.ncbi.nlm.nih.gov/medgen/901636	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007691	http://purl.obolibrary.org/obo/MONDO_0007691	NANDO:2200905	慢性炎症性脱髄性多発神経炎	Chronic inflammatory demyelinating polyneuropathy
C4692546	MedGen UID:1643471	Protoporphyria, erythropoietic, 1	http://www.ncbi.nlm.nih.gov/medgen/1643471	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008319	http://purl.obolibrary.org/obo/MONDO_0008319	NANDO:2201266	赤芽球性プロトポルフィリン症	Erythropoietic protoporphyria
C0085859	MedGen UID:39125	Polyglandular autoimmune syndrome, type 1	http://www.ncbi.nlm.nih.gov/medgen/39125	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009411	http://purl.obolibrary.org/obo/MONDO_0009411	NANDO:2200346	自己免疫性多内分泌腺症候群1型	Autoimmune polyendocrinopathy type 1
C0345240	MedGen UID:83378	Aganglionosis, total intestinal	http://www.ncbi.nlm.nih.gov/medgen/83378	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008738	http://purl.obolibrary.org/obo/MONDO_0008738	NANDO:2200948	腸管神経節細胞僅少症	Congenital Isolated Hypoganglionosis
C0745103	MedGen UID:152875	Hypercholesterolemia, familial, 1	http://www.ncbi.nlm.nih.gov/medgen/152875	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007750	http://purl.obolibrary.org/obo/MONDO_0007750	NANDO:2200602	家族性高コレステロール血症	Familial hypercholesterolemia
C3887523	MedGen UID:854382	Very long chain acyl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/854382	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008723	http://purl.obolibrary.org/obo/MONDO_0008723	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
C1876161	MedGen UID:406281	Neuronal ceroid lipofuscinosis 2	http://www.ncbi.nlm.nih.gov/medgen/406281	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008769	http://purl.obolibrary.org/obo/MONDO_0008769	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
C0015306	MedGen UID:4612	Multiple congenital exostosis	http://www.ncbi.nlm.nih.gov/medgen/4612	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005508	http://purl.obolibrary.org/obo/MONDO_0005508	NANDO:2201014	多発性軟骨性外骨腫症	Multiple cartilaginous exostosis
C0021345	MedGen UID:7069	Infectious mononucleosis	http://www.ncbi.nlm.nih.gov/medgen/7069	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005810	http://purl.obolibrary.org/obo/MONDO_0005810	NANDO:2200976	ファイファー症候群	Pfeiffer syndrome
C0265260	MedGen UID:75557	Grebe syndrome	http://www.ncbi.nlm.nih.gov/medgen/75557	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008703	http://purl.obolibrary.org/obo/MONDO_0008703	NANDO:2201345	軟骨無発生症2型	Achondrogenesis type 2
C0752282	MedGen UID:156050	Congenital structural myopathy	http://www.ncbi.nlm.nih.gov/medgen/156050	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002921	http://purl.obolibrary.org/obo/MONDO_0002921	NANDO:2200867	ミオチュブラーミオパチー	Myotubular myopathy
C1704375	MedGen UID:309957	Hypophosphatemic rickets	http://www.ncbi.nlm.nih.gov/medgen/309957	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0024300	http://purl.obolibrary.org/obo/MONDO_0024300	NANDO:2200402	ビタミンD抵抗性骨軟化症	Vitamin D-resistant osteomalacia
C1704375	MedGen UID:309957	Hypophosphatemic rickets	http://www.ncbi.nlm.nih.gov/medgen/309957	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0024300	http://purl.obolibrary.org/obo/MONDO_0024300	NANDO:2200403	原発性低リン血症性くる病	Primary hypophosphatemic rickets
C0001403	MedGen UID:1324	Primary adrenocortical insufficiency	http://www.ncbi.nlm.nih.gov/medgen/1324	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015129	http://purl.obolibrary.org/obo/MONDO_0015129	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
C0023374	MedGen UID:9721	Lesch-Nyhan syndrome	http://www.ncbi.nlm.nih.gov/medgen/9721	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010298	http://purl.obolibrary.org/obo/MONDO_0010298	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
C0398691	MedGen UID:140768	Hyperimmunoglobulin D with periodic fever	http://www.ncbi.nlm.nih.gov/medgen/140768	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009849	http://purl.obolibrary.org/obo/MONDO_0009849	NANDO:2200436	高IgD症候群	Hyper IgD syndrome
C0546315	MedGen UID:903640	Cardiac diverticulum	http://www.ncbi.nlm.nih.gov/medgen/903640	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015677	http://purl.obolibrary.org/obo/MONDO_0015677	NANDO:2200234	心室瘤	Aneurysm of ventricle
C1141890	MedGen UID:685787	Congenital long QT syndrome	http://www.ncbi.nlm.nih.gov/medgen/685787	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019171	http://purl.obolibrary.org/obo/MONDO_0019171	NANDO:2200228	QT延長症候群	Long qt syndrome
C1855861	MedGen UID:343430	Glycogen storage disorder due to hepatic glycogen synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/343430	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	NANDO:2200537	グリコーゲン合成酵素欠損症	Glycogen synthase deficiency
C3489796	MedGen UID:483749	Thyroid hormone resistance, generalized, autosomal recessive	http://www.ncbi.nlm.nih.gov/medgen/483749	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010131	http://purl.obolibrary.org/obo/MONDO_0010131	NANDO:2200341	甲状腺ホルモン不応症	Resistance to thyroid hormone
C3496579	MedGen UID:758831	Atypical coarctation of aorta	http://www.ncbi.nlm.nih.gov/medgen/758831	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015446	http://purl.obolibrary.org/obo/MONDO_0015446	NANDO:2200284	大動脈縮窄複合	Coarctation complex
C3553961	MedGen UID:766875	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	http://www.ncbi.nlm.nih.gov/medgen/766875	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0013944	http://purl.obolibrary.org/obo/MONDO_0013944	NANDO:2200451	PLCG2異常症	PLCg2 deficiency
C3713420	MedGen UID:780028	Familial hyperaldosteronism	http://www.ncbi.nlm.nih.gov/medgen/780028	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016525	http://purl.obolibrary.org/obo/MONDO_0016525	NANDO:2200602	家族性高コレステロール血症	Familial hypercholesterolemia
C4302200	MedGen UID:927869	Congenital central hypothyroidism	http://www.ncbi.nlm.nih.gov/medgen/927869	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016410	http://purl.obolibrary.org/obo/MONDO_0016410	NANDO:2200340	中枢性甲状腺機能低下症	Central hypothyroidism
C0342482	MedGen UID:87442	Congenital adrenal hypoplasia, X-linked	http://www.ncbi.nlm.nih.gov/medgen/87442	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010264	http://purl.obolibrary.org/obo/MONDO_0010264	NANDO:2200357	先天性副腎低形成症	Congenital adrenal hypoplasia
C0342782	MedGen UID:452449	Mitochondrial DNA depletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/452449	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018158	http://purl.obolibrary.org/obo/MONDO_0018158	NANDO:2200528	ミトコンドリアDNA欠失	Diseases due to mitochondrial DNA deletion
C0342790	MedGen UID:137978	Carnitine palmitoyltransferase II deficiency	http://www.ncbi.nlm.nih.gov/medgen/137978	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015515	http://purl.obolibrary.org/obo/MONDO_0015515	NANDO:2200510	カルニチンパルミトイルトランスフェラーゼII欠損症	Carnitine palmitoyltransferase II deficiency
C0343068	MedGen UID:137986	Familial cold autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/137986	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018768	http://purl.obolibrary.org/obo/MONDO_0018768	NANDO:2200449	NLRP-12関連周期性症候群	NLRP12-associated periodic syndrome
C3887654	MedGen UID:854497	Vasculitis due to ADA2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/854497	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0014306	http://purl.obolibrary.org/obo/MONDO_0014306	NANDO:2200450	DADA2	Deficiency of the enzyme ADA2
C3888018	MedGen UID:854723	Familial hyperinsulinism	http://www.ncbi.nlm.nih.gov/medgen/854723	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017182	http://purl.obolibrary.org/obo/MONDO_0017182	NANDO:2200399	先天性高インスリン血症	Congenital hyperinsulinemia
C0043208	MedGen UID:53088	Wolman disease	http://www.ncbi.nlm.nih.gov/medgen/53088	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	NANDO:2200570	酸性リパーゼ欠損症	Acid lipase deficiency
C0272339	MedGen UID:75779	Prekallikrein deficiency	http://www.ncbi.nlm.nih.gov/medgen/75779	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0044744	http://purl.obolibrary.org/obo/MONDO_0044744	NANDO:2200684	先天性プレカリクレイン欠乏症	Congenital prekallikrein deficiency
C0015530	MedGen UID:4639	Hereditary factor XIII deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/4639	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018029	http://purl.obolibrary.org/obo/MONDO_0018029	NANDO:2200681	第XIII因子欠乏症	Factor XIII deficiency
C0016522	MedGen UID:8891	Patent foramen ovale	http://www.ncbi.nlm.nih.gov/medgen/8891	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0020439	http://purl.obolibrary.org/obo/MONDO_0020439	NANDO:2200266	二次孔型心房中隔欠損症	Atrial septal defect, ostium secundum type
C0018425	MedGen UID:6695	Ornithine aminotransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/6695	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009796	http://purl.obolibrary.org/obo/MONDO_0009796	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
C0018425	MedGen UID:6695	Ornithine aminotransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/6695	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009796	http://purl.obolibrary.org/obo/MONDO_0009796	NANDO:2200484	高オルニチン血症	Hyperornithinemia
CN262437	MedGen UID:945467	Berardinelli-Seip congenital lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/945467	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018883	http://purl.obolibrary.org/obo/MONDO_0018883	NANDO:2200465	脂肪萎縮性糖尿病	Lipoatrophic diabetes
CN279762	MedGen UID:963057	45,X/46,XY mixed gonadal dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/963057	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015779	http://purl.obolibrary.org/obo/MONDO_0015779	NANDO:2200388	混合性性腺異形成症	Mixed gonadal dysgenesis
CN294181	MedGen UID:977689	22q11.2 deletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/977689	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018923	http://purl.obolibrary.org/obo/MONDO_0018923	NANDO:2200712	胸腺低形成	Thymus hypoplasia
C1850451	MedGen UID:340540	Neuronal ceroid lipofuscinosis 1	http://www.ncbi.nlm.nih.gov/medgen/340540	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009744	http://purl.obolibrary.org/obo/MONDO_0009744	NANDO:2201241	乳児型神経セロイドリポフスチン症	Infantile neuronal ceroid lipofuscinosis
C0007959	MedGen UID:2980	Charcot-Marie-Tooth disease	http://www.ncbi.nlm.nih.gov/medgen/2980	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015626	http://purl.obolibrary.org/obo/MONDO_0015626	NANDO:2200855	遺伝性運動感覚ニューロパチー	Hereditary Motor and Sensory Neuropathy
C0008313	MedGen UID:3036	Sclerosing cholangitis	http://www.ncbi.nlm.nih.gov/medgen/3036	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018646	http://purl.obolibrary.org/obo/MONDO_0018646	NANDO:2200929	原発性硬化性胆管炎	Primary sclerosing cholangitis
C0162510	MedGen UID:57924	Caroli disease	http://www.ncbi.nlm.nih.gov/medgen/57924	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010913	http://purl.obolibrary.org/obo/MONDO_0010913	NANDO:2200934	先天性多発肝内胆管拡張症	Caroli disease
C0162678	MedGen UID:58149	Neurofibromatosis	http://www.ncbi.nlm.nih.gov/medgen/58149	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0021061	http://purl.obolibrary.org/obo/MONDO_0021061	NANDO:2201003	レックリングハウゼン病	von Recklinghausen's disease
C0175709	MedGen UID:104495	Centronuclear myopathy	http://www.ncbi.nlm.nih.gov/medgen/104495	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018947	http://purl.obolibrary.org/obo/MONDO_0018947	NANDO:2200867	ミオチュブラーミオパチー	Myotubular myopathy
C1970455	MedGen UID:369736	Systemic lupus erythematosus, susceptibility to, 9	http://www.ncbi.nlm.nih.gov/medgen/369736	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012584	http://purl.obolibrary.org/obo/MONDO_0012584	NANDO:2200801	CR2欠損症	CD21 deficiency
C2931251	MedGen UID:419756	Alpha-mannosidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/419756	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0022424	http://purl.obolibrary.org/obo/MONDO_0022424	NANDO:2201188	乳児型α - マンノシドーシス	Alpha-mannosidosis, infantile form
C0031485	MedGen UID:19244	Phenylketonuria	http://www.ncbi.nlm.nih.gov/medgen/19244	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	NANDO:2201075	フェニルアラニン水酸化酵素欠損症	Phenylalanine hydroxylase deficiency
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	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
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	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
C0268342	MedGen UID:75672	Ehlers-Danlos syndrome, kyphoscoliotic type 1	http://www.ncbi.nlm.nih.gov/medgen/75672	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016002	http://purl.obolibrary.org/obo/MONDO_0016002	NANDO:2201259	後側彎型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, kyphoscoliotic type
C0268601	MedGen UID:78692	Deficiency of hydroxymethylglutaryl-CoA lyase	http://www.ncbi.nlm.nih.gov/medgen/78692	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009520	http://purl.obolibrary.org/obo/MONDO_0009520	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
C0268611	MedGen UID:75697	Arakawa syndrome 2	http://www.ncbi.nlm.nih.gov/medgen/75697	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0021915	http://purl.obolibrary.org/obo/MONDO_0021915	NANDO:2201111	コバラミン代謝異常 cblG	Methylcobalamin deficiency cblG type 
C3537440	MedGen UID:760976	Infantile nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/760976	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018467	http://purl.obolibrary.org/obo/MONDO_0018467	NANDO:2201234	腎型シスチン症	Nephropathic cystinosis
C4282398	MedGen UID:924303	Sialidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/924303	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	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
C4707798	MedGen UID:1647610	Multiple epiphyseal dysplasia due to collagen 9 anomaly	http://www.ncbi.nlm.nih.gov/medgen/1647610	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015627	http://purl.obolibrary.org/obo/MONDO_0015627	NANDO:2201016	2型コラーゲン異常症関連疾患	Type II collagenopathy
C0085859	MedGen UID:39125	Polyglandular autoimmune syndrome, type 1	http://www.ncbi.nlm.nih.gov/medgen/39125	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009411	http://purl.obolibrary.org/obo/MONDO_0009411	NANDO:2200738	自己免疫性多腺性内分泌不全症	Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
C0086795	MedGen UID:39698	Hurler syndrome	http://www.ncbi.nlm.nih.gov/medgen/39698	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011758	http://purl.obolibrary.org/obo/MONDO_0011758	NANDO:2201168	Hurler病	Hurler Disease
C0342790	MedGen UID:137978	Carnitine palmitoyltransferase II deficiency	http://www.ncbi.nlm.nih.gov/medgen/137978	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015515	http://purl.obolibrary.org/obo/MONDO_0015515	NANDO:2201134	遅発型カルニチンパルミトイルトランスフェラーゼII欠損症	Late-onset carnitine palmitoyltransferase II deficiency
C0342790	MedGen UID:137978	Carnitine palmitoyltransferase II deficiency	http://www.ncbi.nlm.nih.gov/medgen/137978	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015515	http://purl.obolibrary.org/obo/MONDO_0015515	NANDO:2201133	乳児期発症型カルニチンパルミトイルトランスフェラーゼII欠損症	Infantile-onset carnitine palmitoyl transferase II deficiency
C0345217	MedGen UID:83377	Cloacal exstrophy	http://www.ncbi.nlm.nih.gov/medgen/83377	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009774	http://purl.obolibrary.org/obo/MONDO_0009774	NANDO:2200950	総排泄腔遺残	Persistent cloaca
C0037917	MedGen UID:21277	Spina bifida cystica	http://www.ncbi.nlm.nih.gov/medgen/21277	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017069	http://purl.obolibrary.org/obo/MONDO_0017069	NANDO:2200814	脊髄髄膜瘤	Myelomeningocele
C1969443	MedGen UID:370665	Mitochondrial trifunctional protein deficiency	http://www.ncbi.nlm.nih.gov/medgen/370665	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012172	http://purl.obolibrary.org/obo/MONDO_0012172	NANDO:2201147	発症前型三頭酵素欠損症	Presymptomatic trifunctional protein deficiency
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2200948	腸管神経節細胞僅少症	Congenital Isolated Hypoganglionosis
C0265282	MedGen UID:82700	Fibrochondrogenesis	http://www.ncbi.nlm.nih.gov/medgen/82700	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016068	http://purl.obolibrary.org/obo/MONDO_0016068	NANDO:2201016	2型コラーゲン異常症関連疾患	Type II collagenopathy
C0559459	MedGen UID:107852	Sacrococcygeal teratoma	http://www.ncbi.nlm.nih.gov/medgen/107852	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0042727	http://purl.obolibrary.org/obo/MONDO_0042727	NANDO:2201287	仙尾部奇形腫（Altman IV型）	Altman type IV sacrococcygeal teratoma
C1540912	MedGen UID:280990	Hypereosinophilic syndrome	http://www.ncbi.nlm.nih.gov/medgen/280990	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015691	http://purl.obolibrary.org/obo/MONDO_0015691	NANDO:2200805	好酸球増加症	Hyper eosinophilic syndrome
C5679815	MedGen UID:1826165	Mucopolysaccharidosis type 2, attenuated form	http://www.ncbi.nlm.nih.gov/medgen/1826165	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016316	http://purl.obolibrary.org/obo/MONDO_0016316	NANDO:2201172	中間型ムコ多糖症II型	Mucopolysaccharidosis type II, intermediate form
CN293953	MedGen UID:978511	Neutral lipid storage disease	http://www.ncbi.nlm.nih.gov/medgen/978511	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015611	http://purl.obolibrary.org/obo/MONDO_0015611	NANDO:2200997	ドルフマン・シャナリン症候群	Dorfman-Chanarin syndrome
C1704375	MedGen UID:309957	Hypophosphatemic rickets	http://www.ncbi.nlm.nih.gov/medgen/309957	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0024300	http://purl.obolibrary.org/obo/MONDO_0024300	NANDO:2201477	低リン血症性骨軟化症	Hypophosphatemic osteomalacia
C3151411	MedGen UID:462761	Intellectual disability, autosomal dominant 6	http://www.ncbi.nlm.nih.gov/medgen/462761	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0013509	http://purl.obolibrary.org/obo/MONDO_0013509	NANDO:2201400	GRIN2B関連神経発達異常症	GRIN2B-related neurodevelopmental disorder
C0023976	MedGen UID:44193	Long QT syndrome	http://www.ncbi.nlm.nih.gov/medgen/44193	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002442	http://purl.obolibrary.org/obo/MONDO_0002442	NANDO:2201452	Romano-Ward症候群	Romano Ward syndrome
C0393571	MedGen UID:98276	Multiple system atrophy	http://www.ncbi.nlm.nih.gov/medgen/98276	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007803	http://purl.obolibrary.org/obo/MONDO_0007803	NANDO:1201120	シャイ・ドレーガー症候群	Shy-Drager syndrome
C3669395	MedGen UID:777171	X-linked chondrodysplasia punctata 1	http://www.ncbi.nlm.nih.gov/medgen/777171	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010555	http://purl.obolibrary.org/obo/MONDO_0010555	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
C4273131	MedGen UID:1636666	Branchiootic syndrome	http://www.ncbi.nlm.nih.gov/medgen/1636666	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018878	http://purl.obolibrary.org/obo/MONDO_0018878	NANDO:2201391	鰓耳腎症候群	Branchio-oto-renal syndrome
C0079298	MedGen UID:86896	Epidermolysis bullosa simplex	http://www.ncbi.nlm.nih.gov/medgen/86896	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017610	http://purl.obolibrary.org/obo/MONDO_0017610	NANDO:2201375	優性単純型表皮水疱症	Autosomal dominant epidermolysis bullosa simplex
C4015316	MedGen UID:863753	Developmental and epileptic encephalopathy, 27	http://www.ncbi.nlm.nih.gov/medgen/863753	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0014505	http://purl.obolibrary.org/obo/MONDO_0014505	NANDO:2201400	GRIN2B関連神経発達異常症	GRIN2B-related neurodevelopmental disorder
C0036420	MedGen UID:48586	Localized scleroderma	http://www.ncbi.nlm.nih.gov/medgen/48586	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019562	http://purl.obolibrary.org/obo/MONDO_0019562	NANDO:2201421	斑状強皮症	Circumscribed morphea
C1868081	MedGen UID:356898	Generalized juvenile polyposis/juvenile polyposis coli	http://www.ncbi.nlm.nih.gov/medgen/356898	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008276	http://purl.obolibrary.org/obo/MONDO_0008276	NANDO:2201457	大腸限局型若年性ポリポーシス	Juvenile polyposis coli
C1868081	MedGen UID:356898	Generalized juvenile polyposis/juvenile polyposis coli	http://www.ncbi.nlm.nih.gov/medgen/356898	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008276	http://purl.obolibrary.org/obo/MONDO_0008276	NANDO:2201454	全消化管型若年性ポリポーシス	Generalized juvenile polyposis
C4518639	MedGen UID:1381392	Epilepsy of infancy with migrating focal seizures	http://www.ncbi.nlm.nih.gov/medgen/1381392	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0100025	http://purl.obolibrary.org/obo/MONDO_0100025	NANDO:2201408	遊走性焦点発作を伴う乳児てんかん	Epilepsy of infancy with migrating focal seizures
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2201466	全結腸型ヒルシュスプルング病	Entire colon Hirschsprung disease
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2201464	S状結腸型ヒルシュスプルング病	Rectosigmoid Hirschsprung's disease
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2201463	直腸下部型ヒルシュスプルング病	Short-segment Hirschsprung's disease
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2201465	左右結腸型ヒルシュスプルング病	Long-segment Hirschsprung's disease
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2201467	小腸型ヒルシュスプルング病	Extensive aganglionosis Hirschsprung disease
C0265260	MedGen UID:75557	Grebe syndrome	http://www.ncbi.nlm.nih.gov/medgen/75557	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008703	http://purl.obolibrary.org/obo/MONDO_0008703	NANDO:2201346	軟骨低発生症	Hypochondrogenesis 
C1527336	MedGen UID:282890	Sjogren syndrome	http://www.ncbi.nlm.nih.gov/medgen/282890	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	NANDO:2201468	一次性シェーグレン症候群	Primary Sjogren's syndrome
C3280976	MedGen UID:482606	Thrombomodulin-related bleeding disorder	http://www.ncbi.nlm.nih.gov/medgen/482606	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0013775	http://purl.obolibrary.org/obo/MONDO_0013775	NANDO:1201115	TM/TAFI 異常症	Disorder of thrombomodulin/thrombin-activatable fibrinolysis inhibitor
C0002736	MedGen UID:274	Amyotrophic lateral sclerosis	http://www.ncbi.nlm.nih.gov/medgen/274	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004976	http://purl.obolibrary.org/obo/MONDO_0004976	NANDO:1200002	筋萎縮性側索硬化症	Amyotrophic lateral sclerosis
C0007194	MedGen UID:2881	Hypertrophic cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/2881	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005045	http://purl.obolibrary.org/obo/MONDO_0005045	NANDO:1200286	肥大型心筋症	Hypertrophic cardiomyopathy
C0007196	MedGen UID:40111	Restrictive cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/40111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005201	http://purl.obolibrary.org/obo/MONDO_0005201	NANDO:1200292	拘束型心筋症	Restrictive cardiomyopathy
C0007222	MedGen UID:2848	Disorder of cardiovascular system	http://www.ncbi.nlm.nih.gov/medgen/2848	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004995	http://purl.obolibrary.org/obo/MONDO_0004995	NANDO:1100005	循環器系疾患	Cardiovascular disease
C0007758	MedGen UID:849	Cerebellar ataxia	http://www.ncbi.nlm.nih.gov/medgen/849	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000437	http://purl.obolibrary.org/obo/MONDO_0000437	NANDO:1200037	脊髄小脳変性症	Spinocerebellar degeneration
C0162534	MedGen UID:56445	Prion disease	http://www.ncbi.nlm.nih.gov/medgen/56445	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005429	http://purl.obolibrary.org/obo/MONDO_0005429	NANDO:1200186	プリオン病	Prion disease
C0162674	MedGen UID:102439	Progressive external ophthalmoplegia	http://www.ncbi.nlm.nih.gov/medgen/102439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005181	http://purl.obolibrary.org/obo/MONDO_0005181	NANDO:1200174	慢性進行性外眼筋麻痺症候群	Chronic progressive external ophthalmoplegia
C0409980	MedGen UID:592740	Primary antiphospholipid syndrome	http://www.ncbi.nlm.nih.gov/medgen/592740	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005204	http://purl.obolibrary.org/obo/MONDO_0005204	NANDO:1200267	原発性抗リン脂質抗体症候群	Primary antiphospholipid antibody syndrome
C0025517	MedGen UID:44376	Metabolic disease	http://www.ncbi.nlm.nih.gov/medgen/44376	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005066	http://purl.obolibrary.org/obo/MONDO_0005066	NANDO:1100002	代謝系疾患	Metabolic disease
C0026769	MedGen UID:10123	Multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/10123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005301	http://purl.obolibrary.org/obo/MONDO_0005301	NANDO:1200023	多発性硬化症	Multiple sclerosis
C0026847	MedGen UID:7755	Spinal muscular atrophy	http://www.ncbi.nlm.nih.gov/medgen/7755	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001516	http://purl.obolibrary.org/obo/MONDO_0001516	NANDO:1200003	脊髄性筋萎縮症	Spinal muscular atrophy
C0030567	MedGen UID:10590	Parkinson disease	http://www.ncbi.nlm.nih.gov/medgen/10590	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005180	http://purl.obolibrary.org/obo/MONDO_0005180	NANDO:1200010	パーキンソン病	Parkinson's disease
C0398686	MedGen UID:585013	Inborn error of immunity	http://www.ncbi.nlm.nih.gov/medgen/585013	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003778	http://purl.obolibrary.org/obo/MONDO_0003778	NANDO:1200320	原発性免疫不全症候群	Primary immunodeficiency syndrome
C0085078	MedGen UID:43098	Lysosomal storage disease	http://www.ncbi.nlm.nih.gov/medgen/43098	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002561	http://purl.obolibrary.org/obo/MONDO_0002561	NANDO:1200055	ライソゾーム病	Lysosomal storage disease
C4551860	MedGen UID:1642667	Ullrich congenital muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/1642667	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000355	http://purl.obolibrary.org/obo/MONDO_0000355	NANDO:1200215	ウルリッヒ病	Ullrich disease
C0035204	MedGen UID:48421	Respiratory system disorder	http://www.ncbi.nlm.nih.gov/medgen/48421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005087	http://purl.obolibrary.org/obo/MONDO_0005087	NANDO:1100010	呼吸器系疾患	Respiratory disease
C0036421	MedGen UID:19897	Systemic sclerosis	http://www.ncbi.nlm.nih.gov/medgen/19897	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005100	http://purl.obolibrary.org/obo/MONDO_0005100	NANDO:1200277	全身性強皮症	Systemic sclerosis
C0014130	MedGen UID:4043	Disorder of endocrine system	http://www.ncbi.nlm.nih.gov/medgen/4043	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005151	http://purl.obolibrary.org/obo/MONDO_0005151	NANDO:1100009	内分泌系疾患	Endocrine disease
C0018939	MedGen UID:5483	Hematologic disorder	http://www.ncbi.nlm.nih.gov/medgen/5483	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005570	http://purl.obolibrary.org/obo/MONDO_0005570	NANDO:1100006	血液系疾患	Blood disease
C0021053	MedGen UID:5759	Immune system disorder	http://www.ncbi.nlm.nih.gov/medgen/5759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005046	http://purl.obolibrary.org/obo/MONDO_0005046	NANDO:1100004	免疫系疾患	Immune system disease
C0751964	MedGen UID:155968	Primary progressive multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155968	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000451	http://purl.obolibrary.org/obo/MONDO_0000451	NANDO:1200025	一次性進行型多発性硬化症	Primary progressive multiple sclerosis
C0751965	MedGen UID:155969	Secondary progressive multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155969	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000450	http://purl.obolibrary.org/obo/MONDO_0000450	NANDO:1200026	二次性進行型多発性硬化症	Secondary progressive multiple sclerosis
C0751967	MedGen UID:155669	Relapsing remitting multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155669	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005314	http://purl.obolibrary.org/obo/MONDO_0005314	NANDO:1200024	再発寛解型多発性硬化症	Relapsing-remitting multiple sclerosis
C1314968	MedGen UID:727290	Impetigo herpetiformis	http://www.ncbi.nlm.nih.gov/medgen/727290	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004591	http://purl.obolibrary.org/obo/MONDO_0004591	NANDO:1200243	疱疹状膿痂疹	Impetigo herpetiformis
C4023588	MedGen UID:892790	Abnormality of the gastrointestinal tract	http://www.ncbi.nlm.nih.gov/medgen/892790	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004335	http://purl.obolibrary.org/obo/MONDO_0004335	NANDO:1100013	消化器系疾患	Gastrointestinal disease
C5681331	MedGen UID:1826154	Inherited aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/1826154	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001713	http://purl.obolibrary.org/obo/MONDO_0001713	NANDO:1200302	先天性再生不良性貧血	Congenital aplastic anemia
C0023521	MedGen UID:44131	Galactosylceramide beta-galactosidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/44131	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009499	http://purl.obolibrary.org/obo/MONDO_0009499	NANDO:1200074	クラッベ病	Krabbe disease
C0024408	MedGen UID:9841	Azorean disease	http://www.ncbi.nlm.nih.gov/medgen/9841	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007182	http://purl.obolibrary.org/obo/MONDO_0007182	NANDO:1200041	脊髄小脳失調症3型	Spinocerebellar ataxia type 3
C0268250	MedGen UID:78652	Gaucher disease type II	http://www.ncbi.nlm.nih.gov/medgen/78652	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009266	http://purl.obolibrary.org/obo/MONDO_0009266	NANDO:1200058	ゴーシェ病2型	Gaucher disease type 2
C0268251	MedGen UID:78653	Gaucher disease type III	http://www.ncbi.nlm.nih.gov/medgen/78653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009267	http://purl.obolibrary.org/obo/MONDO_0009267	NANDO:1200059	ゴーシェ病3型	Gaucher disease type 3
C0268255	MedGen UID:78654	Farber lipogranulomatosis	http://www.ncbi.nlm.nih.gov/medgen/78654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009218	http://purl.obolibrary.org/obo/MONDO_0009218	NANDO:1200086	ファーバー病	Farber disease
C0268262	MedGen UID:120624	Sphingolipid activator protein 1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/120624	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009590	http://purl.obolibrary.org/obo/MONDO_0009590	NANDO:1200082	サポシンB欠損症	Saposin B deficiency
C0268271	MedGen UID:75665	Infantile GM1 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/75665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009260	http://purl.obolibrary.org/obo/MONDO_0009260	NANDO:1200067	乳児型GM1-ガングリオシドーシス	Infantile GM1 gangliosidosis
C0268272	MedGen UID:120625	GM1 gangliosidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/120625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009261	http://purl.obolibrary.org/obo/MONDO_0009261	NANDO:1200068	若年型GM1-ガングリオシドーシス	Juvenile GM1 gangliosidosis
C0268273	MedGen UID:78655	GM1 gangliosidosis type 3	http://www.ncbi.nlm.nih.gov/medgen/78655	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009262	http://purl.obolibrary.org/obo/MONDO_0009262	NANDO:1200069	成人型GM1-ガングリオシドーシス	Adult GM1 gangliosidosis
C0393571	MedGen UID:98276	Multiple system atrophy	http://www.ncbi.nlm.nih.gov/medgen/98276	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007803	http://purl.obolibrary.org/obo/MONDO_0007803	NANDO:1200034	多系統萎縮症	Multiple system atrophy
C0393576	MedGen UID:98277	Chorea-acanthocytosis	http://www.ncbi.nlm.nih.gov/medgen/98277	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008695	http://purl.obolibrary.org/obo/MONDO_0008695	NANDO:1200014	有棘赤血球舞踏病	Chorea-acanthocytosis
C0393819	MedGen UID:98292	Chronic inflammatory demyelinating polyradiculoneuropathy	http://www.ncbi.nlm.nih.gov/medgen/98292	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006702	http://purl.obolibrary.org/obo/MONDO_0006702	NANDO:1200030	慢性炎症性脱髄性多発神経炎	Chronic inflammatory demyelinating polyneuropathy
C1859598	MedGen UID:395301	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	http://www.ncbi.nlm.nih.gov/medgen/395301	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008842	http://purl.obolibrary.org/obo/MONDO_0008842	NANDO:1200051	アプラタキシン欠損症	Ataxia-oculomotor apraxia type 1
C1861736	MedGen UID:348439	Spinocerebellar ataxia type 31	http://www.ncbi.nlm.nih.gov/medgen/348439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007296	http://purl.obolibrary.org/obo/MONDO_0007296	NANDO:1200044	脊髄小脳失調症31型	Spinocerebellar ataxia type 31
C0086647	MedGen UID:39264	Mucopolysaccharidosis, MPS-III-A	http://www.ncbi.nlm.nih.gov/medgen/39264	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009655	http://purl.obolibrary.org/obo/MONDO_0009655	NANDO:1200101	サンフィリッポ症候群A型	Sanfilippo disease type A
C0086648	MedGen UID:88601	Mucopolysaccharidosis, MPS-III-B	http://www.ncbi.nlm.nih.gov/medgen/88601	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009656	http://purl.obolibrary.org/obo/MONDO_0009656	NANDO:1200102	サンフィリッポ症候群B型	Sanfilippo disease type B
C0086649	MedGen UID:39477	Mucopolysaccharidosis, MPS-III-C	http://www.ncbi.nlm.nih.gov/medgen/39477	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009657	http://purl.obolibrary.org/obo/MONDO_0009657	NANDO:1200103	サンフィリッポ症候群C型	Sanfilippo disease type C
C0086650	MedGen UID:88602	Mucopolysaccharidosis, MPS-III-D	http://www.ncbi.nlm.nih.gov/medgen/88602	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009658	http://purl.obolibrary.org/obo/MONDO_0009658	NANDO:1200104	サンフィリッポ症候群D型	Sanfilippo disease type D
C1961835	MedGen UID:409531	Gaucher disease type I	http://www.ncbi.nlm.nih.gov/medgen/409531	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009265	http://purl.obolibrary.org/obo/MONDO_0009265	NANDO:1200057	ゴーシェ病1型	Gaucher disease type 1
C0020179	MedGen UID:5654	Huntington disease	http://www.ncbi.nlm.nih.gov/medgen/5654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007739	http://purl.obolibrary.org/obo/MONDO_0007739	NANDO:1200012	ハンチントン病	Huntington's disease
C0238190	MedGen UID:68659	Inclusion body myositis	http://www.ncbi.nlm.nih.gov/medgen/68659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007827	http://purl.obolibrary.org/obo/MONDO_0007827	NANDO:1200032	封入体筋炎	Sporadic inclusion body myositis
C0751276	MedGen UID:155528	Metachromatic leukodystrophy, juvenile type	http://www.ncbi.nlm.nih.gov/medgen/155528	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009591	http://purl.obolibrary.org/obo/MONDO_0009591	NANDO:1200080	若年型異染性白質ジストロフィー	Juvenile ｍetachromatic leukodystrophy
C0751781	MedGen UID:155630	Dentatorubral-pallidoluysian atrophy	http://www.ncbi.nlm.nih.gov/medgen/155630	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007435	http://purl.obolibrary.org/obo/MONDO_0007435	NANDO:1200043	歯状核赤核淡蒼球ルイ体萎縮症	Dentatorubropallidoluysian atrophy
C0752120	MedGen UID:155703	Spinocerebellar ataxia type 1	http://www.ncbi.nlm.nih.gov/medgen/155703	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008119	http://purl.obolibrary.org/obo/MONDO_0008119	NANDO:1200045	脊髄小脳失調症1型	Spinocerebellar ataxia type 1
C0752121	MedGen UID:155704	Spinocerebellar ataxia type 2	http://www.ncbi.nlm.nih.gov/medgen/155704	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008458	http://purl.obolibrary.org/obo/MONDO_0008458	NANDO:1200046	脊髄小脳失調症2型	Spinocerebellar ataxia type 2
C0752124	MedGen UID:148458	Spinocerebellar ataxia type 6	http://www.ncbi.nlm.nih.gov/medgen/148458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008457	http://purl.obolibrary.org/obo/MONDO_0008457	NANDO:1200042	脊髄小脳失調症6型	Spinocerebellar ataxia type 6
C1834674	MedGen UID:331805	Bethlem myopathy	http://www.ncbi.nlm.nih.gov/medgen/331805	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008029	http://purl.obolibrary.org/obo/MONDO_0008029	NANDO:1200220	ベスレムミオパチー	Bethlem Myopathy
C0004135	MedGen UID:439	Ataxia-telangiectasia syndrome	http://www.ncbi.nlm.nih.gov/medgen/439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008840	http://purl.obolibrary.org/obo/MONDO_0008840	NANDO:1200331	毛細血管拡張性運動失調症	Ataxia telangiectasia
C0004943	MedGen UID:2568	Behcet disease	http://www.ncbi.nlm.nih.gov/medgen/2568	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007191	http://purl.obolibrary.org/obo/MONDO_0007191	NANDO:1200284	ベーチェット病	Behcet's disease
C0406557	MedGen UID:96060	Kindler syndrome	http://www.ncbi.nlm.nih.gov/medgen/96060	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008260	http://purl.obolibrary.org/obo/MONDO_0008260	NANDO:1200239	キンドラー症候群	Kindler syndrome
C2673377	MedGen UID:435914	Mucolipidosis type II	http://www.ncbi.nlm.nih.gov/medgen/435914	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009650	http://purl.obolibrary.org/obo/MONDO_0009650	NANDO:1200124	ムコリピドーシスII型	Mucolipidosis II
C2931418	MedGen UID:444051	MHC class II deficiency	http://www.ncbi.nlm.nih.gov/medgen/444051	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008855	http://purl.obolibrary.org/obo/MONDO_0008855	NANDO:1200329	MHCクラスII欠損症	MHC class II deficiency
C0024141	MedGen UID:6146	Systemic lupus erythematosus	http://www.ncbi.nlm.nih.gov/medgen/6146	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007915	http://purl.obolibrary.org/obo/MONDO_0007915	NANDO:1200272	全身性エリテマトーデス	Systemic lupus erythematosus
C0024748	MedGen UID:7467	Deficiency of alpha-mannosidase	http://www.ncbi.nlm.nih.gov/medgen/7467	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009561	http://purl.obolibrary.org/obo/MONDO_0009561	NANDO:1200126	α-マンノシドーシス	Alpha-mannosidosis
C0026272	MedGen UID:10069	Mixed connective tissue disease	http://www.ncbi.nlm.nih.gov/medgen/10069	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005854	http://purl.obolibrary.org/obo/MONDO_0005854	NANDO:1200278	混合性結合組織病	Mixed connective tissue disease
C0027832	MedGen UID:18014	Neurofibromatosis, type 2	http://www.ncbi.nlm.nih.gov/medgen/18014	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007039	http://purl.obolibrary.org/obo/MONDO_0007039	NANDO:1200227	神経線維腫症II型	Neurofibromatosis type 2
C0030481	MedGen UID:18298	HTLV-1-associated myelopathy-tropical spastic paraparesis	http://www.ncbi.nlm.nih.gov/medgen/18298	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008039	http://purl.obolibrary.org/obo/MONDO_0008039	NANDO:1200206	HTLV-1関連脊髄症	HTLV-1-associated myelopathy
C0030807	MedGen UID:45369	Pemphigus	http://www.ncbi.nlm.nih.gov/medgen/45369	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006594	http://purl.obolibrary.org/obo/MONDO_0006594	NANDO:1200228	天疱瘡	Pemphigus
C0030809	MedGen UID:10621	Pemphigus vulgaris	http://www.ncbi.nlm.nih.gov/medgen/10621	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008219	http://purl.obolibrary.org/obo/MONDO_0008219	NANDO:1200229	尋常性天疱瘡	Pemphigus vulgaris
C0268225	MedGen UID:78649	Aspartylglucosaminuria	http://www.ncbi.nlm.nih.gov/medgen/78649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008830	http://purl.obolibrary.org/obo/MONDO_0008830	NANDO:1200133	アスパルチルグルコサミン尿症	Aspartylglucosaminuria
C0268626	MedGen UID:75701	Juvenile nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/75701	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009066	http://purl.obolibrary.org/obo/MONDO_0009066	NANDO:1200163	中間型シスチン症	Intermediate cystinosis
C0376329	MedGen UID:138163	Variant Creutzfeldt-Jakob disease	http://www.ncbi.nlm.nih.gov/medgen/138163	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007012	http://purl.obolibrary.org/obo/MONDO_0007012	NANDO:1200194	変異型クロイツフェルトヤコブ病	Variant Creutzfeldt-Jakob disease
C0398650	MedGen UID:584986	Autoimmune thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/584986	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008558	http://purl.obolibrary.org/obo/MONDO_0008558	NANDO:1200315	免疫性血小板減少症	Immune thrombocytopenia
C1863236	MedGen UID:354935	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	http://www.ncbi.nlm.nih.gov/medgen/354935	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007064	http://purl.obolibrary.org/obo/MONDO_0007064	NANDO:1200323	アデノシンデアミナーゼ欠損症	Adenosine deaminase deficiency
C0079474	MedGen UID:36311	Recessive dystrophic epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/36311	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009179	http://purl.obolibrary.org/obo/MONDO_0009179	NANDO:1200238	劣性栄養障害型表皮水疱症	Recessive dystrophic epidermolysis bullosa
C0040021	MedGen UID:21531	Thromboangiitis obliterans	http://www.ncbi.nlm.nih.gov/medgen/21531	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008889	http://purl.obolibrary.org/obo/MONDO_0008889	NANDO:1200266	バージャー病	Buerger's disease
C1956391	MedGen UID:365495	Temporal arteritis	http://www.ncbi.nlm.nih.gov/medgen/365495	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008538	http://purl.obolibrary.org/obo/MONDO_0008538	NANDO:1200258	巨細胞性動脈炎	Giant cell arteritis
C2931013	MedGen UID:419313	Ocular cystinosis	http://www.ncbi.nlm.nih.gov/medgen/419313	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009064	http://purl.obolibrary.org/obo/MONDO_0009064	NANDO:1200164	非腎型シスチン症	Non-nephropathic cystinosis 
C0014527	MedGen UID:41832	Epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/41832	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006541	http://purl.obolibrary.org/obo/MONDO_0006541	NANDO:1200234	表皮水疱症	Epidermolysis bullosa
C0016788	MedGen UID:5288	Fucosidosis	http://www.ncbi.nlm.nih.gov/medgen/5288	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009254	http://purl.obolibrary.org/obo/MONDO_0009254	NANDO:1200130	フコシドーシス	Fucosidosis
C0017495	MedGen UID:4886	Gerstmann-Straussler-Scheinker syndrome	http://www.ncbi.nlm.nih.gov/medgen/4886	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007656	http://purl.obolibrary.org/obo/MONDO_0007656	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
C0751254	MedGen UID:155837	Inherited Creutzfeldt-Jakob disease	http://www.ncbi.nlm.nih.gov/medgen/155837	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007403	http://purl.obolibrary.org/obo/MONDO_0007403	NANDO:1200189	家族性クロイツフェルト・ヤコブ病	Familial Creutzfeldt-Jakob disease
C4048196	MedGen UID:888408	Beta-D-mannosidosis	http://www.ncbi.nlm.nih.gov/medgen/888408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009562	http://purl.obolibrary.org/obo/MONDO_0009562	NANDO:1200129	β-マンノシドーシス	Beta-mannosidosis
CN263207	MedGen UID:946235	Bilateral striopallidodentate calcinosis	http://www.ncbi.nlm.nih.gov/medgen/946235	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008947	http://purl.obolibrary.org/obo/MONDO_0008947	NANDO:1200207	特発性基底核石灰化症	Idiopathic basal ganglia calcification
C5848259	MedGen UID:1845578	Werdnig-Hoffmann disease	http://www.ncbi.nlm.nih.gov/medgen/1845578	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009669	http://purl.obolibrary.org/obo/MONDO_0009669	NANDO:1200004	脊髄性筋萎縮症I型	Spinal muscular atrophy type I
C0026709	MedGen UID:44514	Mucopolysaccharidosis type 6	http://www.ncbi.nlm.nih.gov/medgen/44514	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	NANDO:1200108	マロトー・ラミー症候群	Maroteaux-Lamy syndrome
C0026896	MedGen UID:7764	Myasthenia gravis	http://www.ncbi.nlm.nih.gov/medgen/7764	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009688	http://purl.obolibrary.org/obo/MONDO_0009688	NANDO:1200020	重症筋無力症	Myasthenia gravis
C0393538	MedGen UID:95975	Spinal muscular atrophy, type II	http://www.ncbi.nlm.nih.gov/medgen/95975	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009673	http://purl.obolibrary.org/obo/MONDO_0009673	NANDO:1200005	脊髄性筋萎縮症II型	Spinal muscular atrophy type II
C0085132	MedGen UID:43108	Mucopolysaccharidosis type 7	http://www.ncbi.nlm.nih.gov/medgen/43108	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009662	http://purl.obolibrary.org/obo/MONDO_0009662	NANDO:1200111	Sly病	Sly syndrome
C0086651	MedGen UID:43375	Mucopolysaccharidosis, MPS-IV-A	http://www.ncbi.nlm.nih.gov/medgen/43375	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009659	http://purl.obolibrary.org/obo/MONDO_0009659	NANDO:1200106	モルキオ症候群A型	Morquio syndrome type A
C0086652	MedGen UID:43376	Mucopolysaccharidosis, MPS-IV-B	http://www.ncbi.nlm.nih.gov/medgen/43376	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009660	http://purl.obolibrary.org/obo/MONDO_0009660	NANDO:1200107	モルキオ症候群B型	Morquio syndrome type B
C0152109	MedGen UID:101816	Kugelberg-Welander disease	http://www.ncbi.nlm.nih.gov/medgen/101816	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009672	http://purl.obolibrary.org/obo/MONDO_0009672	NANDO:1200006	脊髄性筋萎縮症III型	Spinal muscular atrophy type III
C5553104	MedGen UID:1790866	Miyoshi myopathy	http://www.ncbi.nlm.nih.gov/medgen/1790866	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009685	http://purl.obolibrary.org/obo/MONDO_0009685	NANDO:1200217	三好型ミオパチー	Miyoshi myopathy
C1848412	MedGen UID:336339	Photosensitive trichothiodystrophy	http://www.ncbi.nlm.nih.gov/medgen/336339	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002470	http://purl.obolibrary.org/obo/MONDO_0002470	NANDO:1200626	IBID	Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature
C0001193	MedGen UID:7858	Acrocephalosyndactyly type I	http://www.ncbi.nlm.nih.gov/medgen/7858	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007041	http://purl.obolibrary.org/obo/MONDO_0007041	NANDO:1200667	アペール症候群	Apert syndrome
C0008312	MedGen UID:3035	Primary biliary cholangitis	http://www.ncbi.nlm.nih.gov/medgen/3035	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005388	http://purl.obolibrary.org/obo/MONDO_0005388	NANDO:1200439	原発性胆汁性胆管炎	Primary biliary cholangitis
C0009324	MedGen UID:3532	Ulcerative colitis	http://www.ncbi.nlm.nih.gov/medgen/3532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005101	http://purl.obolibrary.org/obo/MONDO_0005101	NANDO:1200449	潰瘍性大腸炎	Ulcerative colitis
C0010273	MedGen UID:1162	Crouzon syndrome	http://www.ncbi.nlm.nih.gov/medgen/1162	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007405	http://purl.obolibrary.org/obo/MONDO_0007405	NANDO:1200666	クルーゾン症候群	Crouzon's syndrome
C0010346	MedGen UID:3664	Crohn disease	http://www.ncbi.nlm.nih.gov/medgen/3664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005011	http://purl.obolibrary.org/obo/MONDO_0005011	NANDO:1200444	クローン病	Crohn's disease
C0156146	MedGen UID:57617	Small bowel Crohn disease	http://www.ncbi.nlm.nih.gov/medgen/57617	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005539	http://purl.obolibrary.org/obo/MONDO_0005539	NANDO:1200445	小腸型クローン病	small bowel Crohn disease
C0156147	MedGen UID:57618	Crohn disease of large bowel	http://www.ncbi.nlm.nih.gov/medgen/57618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005532	http://purl.obolibrary.org/obo/MONDO_0005532	NANDO:1200446	大腸型クローン病	Colonic Crohn's disease
C0220658	MedGen UID:67390	Pfeiffer syndrome	http://www.ncbi.nlm.nih.gov/medgen/67390	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007043	http://purl.obolibrary.org/obo/MONDO_0007043	NANDO:1200668	ファイファー症候群	Pfeiffer syndrome
C2350236	MedGen UID:389939	Idiopathic interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/389939	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002429	http://purl.obolibrary.org/obo/MONDO_0002429	NANDO:1200416	特発性間質性肺炎	Idiopathic interstitial pneumonia
C2940786	MedGen UID:424854	Thyroid hormone resistance syndrome	http://www.ncbi.nlm.nih.gov/medgen/424854	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001328	http://purl.obolibrary.org/obo/MONDO_0001328	NANDO:1200395	甲状腺ホルモン不応症	Resistance to thyroid hormone
C0030443	MedGen UID:18291	Familial periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/18291	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000995	http://purl.obolibrary.org/obo/MONDO_0000995	NANDO:1200502	遺伝性周期性四肢麻痺	Hereditary periodic paralysis
C0398788	MedGen UID:140770	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/140770	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000133	http://purl.obolibrary.org/obo/MONDO_0000133	NANDO:1200334	ICF症候群	ICF syndrome
C0949272	MedGen UID:184943	Ileocolitis	http://www.ncbi.nlm.nih.gov/medgen/184943	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005534	http://purl.obolibrary.org/obo/MONDO_0005534	NANDO:1200447	小腸大腸型クローン病	Crohn ileocolitis
C1861329	MedGen UID:396107	Spinal canal stenosis	http://www.ncbi.nlm.nih.gov/medgen/396107	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005965	http://purl.obolibrary.org/obo/MONDO_0005965	NANDO:1200372	広範脊柱管狭窄症	Coexisting cervical and lumbar spinal stenosis
C0085413	MedGen UID:88404	Autosomal dominant polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/88404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004691	http://purl.obolibrary.org/obo/MONDO_0004691	NANDO:1200368	常染色体優性多発性嚢胞腎	Autosomal dominant polycystic kidney disease
C0341106	MedGen UID:83318	Eosinophilic esophagitis	http://www.ncbi.nlm.nih.gov/medgen/83318	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005361	http://purl.obolibrary.org/obo/MONDO_0005361	NANDO:1200456	好酸球性食道炎	Eosinophilic esophagitis
C0041341	MedGen UID:22518	Tuberous sclerosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/22518	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001734	http://purl.obolibrary.org/obo/MONDO_0001734	NANDO:1200607	結節性硬化症	Tuberous sclerosis complex
C0272236	MedGen UID:124420	Hyperimmunoglobulin M syndrome	http://www.ncbi.nlm.nih.gov/medgen/124420	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003947	http://purl.obolibrary.org/obo/MONDO_0003947	NANDO:1200345	高IgM症候群	Hyper-IgM syndrome
C0272242	MedGen UID:82898	Reduced circulating complement concentration	http://www.ncbi.nlm.nih.gov/medgen/82898	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003832	http://purl.obolibrary.org/obo/MONDO_0003832	NANDO:1200364	先天性補体欠損症	Inherited deficiency of complement system
C0017661	MedGen UID:9032	IgA glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/9032	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005342	http://purl.obolibrary.org/obo/MONDO_0005342	NANDO:1200366	IgＡ腎症	IgA nephropathy
C0020635	MedGen UID:9386	Hypopituitarism	http://www.ncbi.nlm.nih.gov/medgen/9386	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005152	http://purl.obolibrary.org/obo/MONDO_0005152	NANDO:1200387	下垂体前葉機能低下症	Hypopituitarism syndrome
C0021141	MedGen UID:5772	Inappropriate antidiuretic hormone secretion	http://www.ncbi.nlm.nih.gov/medgen/5772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006802	http://purl.obolibrary.org/obo/MONDO_0006802	NANDO:1200376	抗利尿ホルモン不適切分泌症候群	Syndrome of inappropriate secretion of antidiuretic hormone
C0238288	MedGen UID:65956	Facioscapulohumeral muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/65956	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001347	http://purl.obolibrary.org/obo/MONDO_0001347	NANDO:1200491	顔面肩甲上腕型筋ジストロフィー	Facioscapulohumeral muscular dystrophy
C0265234	MedGen UID:82693	Melnick-Fraser syndrome	http://www.ncbi.nlm.nih.gov/medgen/82693	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007029	http://purl.obolibrary.org/obo/MONDO_0007029	NANDO:1200675	鰓耳腎症候群	Branchio-oto-renal syndrome
C0751587	MedGen UID:199687	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	http://www.ncbi.nlm.nih.gov/medgen/199687	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007432	http://purl.obolibrary.org/obo/MONDO_0007432	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
C0751951	MedGen UID:199773	Central core myopathy	http://www.ncbi.nlm.nih.gov/medgen/199773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007294	http://purl.obolibrary.org/obo/MONDO_0007294	NANDO:1200479	セントラルコア病	Central core disease
C0860168	MedGen UID:678582	Distal colitis	http://www.ncbi.nlm.nih.gov/medgen/678582	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005533	http://purl.obolibrary.org/obo/MONDO_0005533	NANDO:1200451	潰瘍性大腸炎（左側大腸炎型）	Left-sided colitis
C0868908	MedGen UID:1720692	Pancolitis	http://www.ncbi.nlm.nih.gov/medgen/1720692	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005536	http://purl.obolibrary.org/obo/MONDO_0005536	NANDO:1200450	潰瘍性大腸炎（全大腸炎型）	Pan-ulcerative colitis
C4049006	MedGen UID:883982	Selective IgA deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/883982	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001341	http://purl.obolibrary.org/obo/MONDO_0001341	NANDO:1200347	選択的IgA欠損症	Selective IgA deficiency
CN295306	MedGen UID:977133	Myoclonus-dystonia syndrome	http://www.ncbi.nlm.nih.gov/medgen/977133	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000903	http://purl.obolibrary.org/obo/MONDO_0000903	NANDO:1200522	DYT11ジストニア	Dystonia 11
C1851945	MedGen UID:338823	Early-onset generalized limb-onset dystonia	http://www.ncbi.nlm.nih.gov/medgen/338823	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007492	http://purl.obolibrary.org/obo/MONDO_0007492	NANDO:1200512	DYT1ジストニア	Dystonia 1
C0005859	MedGen UID:2685	Bloom syndrome	http://www.ncbi.nlm.nih.gov/medgen/2685	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008876	http://purl.obolibrary.org/obo/MONDO_0008876	NANDO:1200333	ブルーム症候群	Bloom syndrome
C0007965	MedGen UID:3347	Chédiak-Higashi syndrome	http://www.ncbi.nlm.nih.gov/medgen/3347	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008963	http://purl.obolibrary.org/obo/MONDO_0008963	NANDO:1200350	チェディアック・東症候群	Chédiak-Higashi syndrome
C0221023	MedGen UID:65121	Cyclical neutropenia	http://www.ncbi.nlm.nih.gov/medgen/65121	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008090	http://purl.obolibrary.org/obo/MONDO_0008090	NANDO:1200354	周期性好中球減少症	Cyclic neutropenia
C0221055	MedGen UID:113142	Paramyotonia congenita of Von Eulenburg	http://www.ncbi.nlm.nih.gov/medgen/113142	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008195	http://purl.obolibrary.org/obo/MONDO_0008195	NANDO:1200501	先天性パラミオトニー	Paramyotonia congenita
C0221406	MedGen UID:66381	Pituitary dependent hypercortisolism	http://www.ncbi.nlm.nih.gov/medgen/66381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009050	http://purl.obolibrary.org/obo/MONDO_0009050	NANDO:1200379	クッシング病	Cushing disease
C0410174	MedGen UID:140820	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	http://www.ncbi.nlm.nih.gov/medgen/140820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009678	http://purl.obolibrary.org/obo/MONDO_0009678	NANDO:1200494	福山型先天性筋ジストロフィー	Fukuyama type congenital muscular dystrophy
C2936858	MedGen UID:424833	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/424833	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008728	http://purl.obolibrary.org/obo/MONDO_0008728	NANDO:1200399	21-水酸化酵素欠損症	21-Hydroxylase deficiency
C0024814	MedGen UID:6222	Marinesco-Sjögren syndrome	http://www.ncbi.nlm.nih.gov/medgen/6222	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009567	http://purl.obolibrary.org/obo/MONDO_0009567	NANDO:1200485	マリネスコ・シェーグレン症候群	Marinesco-Sjogren syndrome
C0268285	MedGen UID:82782	Deficiency of steroid 17-alpha-monooxygenase	http://www.ncbi.nlm.nih.gov/medgen/82782	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008730	http://purl.obolibrary.org/obo/MONDO_0008730	NANDO:1200401	17α−水酸化酵素欠損症	17-α-Hydroxylase deficiency
C0268292	MedGen UID:82783	Deficiency of steroid 11-beta-monooxygenase	http://www.ncbi.nlm.nih.gov/medgen/82783	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008729	http://purl.obolibrary.org/obo/MONDO_0008729	NANDO:1200400	11β-水酸化酵素欠損症	11-β-Hydroxylase deficiency
C0268390	MedGen UID:120634	Familial amyloid nephropathy with urticaria AND deafness	http://www.ncbi.nlm.nih.gov/medgen/120634	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008633	http://purl.obolibrary.org/obo/MONDO_0008633	NANDO:1200467	マックル・ウェルズ症候群	Muckle-Wells syndrome
C0270952	MedGen UID:75730	Oculopharyngeal muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/75730	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008116	http://purl.obolibrary.org/obo/MONDO_0008116	NANDO:1200493	眼咽頭筋型筋ジストロフィー	Oculopharyngeal muscular dystrophy
C0398791	MedGen UID:140771	Microcephaly, normal intelligence and immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/140771	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009623	http://purl.obolibrary.org/obo/MONDO_0009623	NANDO:1200332	ナイミーヘン染色体不安定症候群	Nijmegen breakage syndrome
C1275126	MedGen UID:226899	TNF receptor-associated periodic fever syndrome (TRAPS)	http://www.ncbi.nlm.nih.gov/medgen/226899	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007727	http://purl.obolibrary.org/obo/MONDO_0007727	NANDO:1200472	TNF受容体関連周期性症候群	TNF receptor-associated periodic fever syndrome
C1856128	MedGen UID:344659	Hepatic veno-occlusive disease-immunodeficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/344659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009338	http://purl.obolibrary.org/obo/MONDO_0009338	NANDO:1200341	肝中心静脈閉鎖症を伴う免疫不全症	Hepatic veno-occlusive disease with immunodeficiency
C5201146	MedGen UID:1684759	Blau syndrome	http://www.ncbi.nlm.nih.gov/medgen/1684759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008523	http://purl.obolibrary.org/obo/MONDO_0008523	NANDO:1200476	ブラウ症候群	Blau syndrome
C0342394	MedGen UID:574999	Neurohypophyseal diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/574999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007450	http://purl.obolibrary.org/obo/MONDO_0007450	NANDO:1200375	中枢性尿崩症	Central diabetes insipidus
C0342471	MedGen UID:452446	3 beta-Hydroxysteroid dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/452446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008727	http://purl.obolibrary.org/obo/MONDO_0008727	NANDO:1200398	3β−水酸化ステロイド脱水素酵素欠損症	3-β-Hydroxysteroid dehydrogenase deficiency
C0345240	MedGen UID:83378	Aganglionosis, total intestinal	http://www.ncbi.nlm.nih.gov/medgen/83378	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008738	http://purl.obolibrary.org/obo/MONDO_0008738	NANDO:1200460	腸管神経節細胞僅少症	Congenital isolated hypoganglionosis
C0587248	MedGen UID:108454	Costello syndrome	http://www.ncbi.nlm.nih.gov/medgen/108454	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009026	http://purl.obolibrary.org/obo/MONDO_0009026	NANDO:1200463	コステロ症候群	Costello syndrome
C0271742	MedGen UID:82889	Glucocorticoid deficiency with achalasia	http://www.ncbi.nlm.nih.gov/medgen/82889	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009279	http://purl.obolibrary.org/obo/MONDO_0009279	NANDO:1200410	Allgrove症候群	Allgrove syndrome
C0238357	MedGen UID:68665	Familial hyperkalemic periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/68665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008224	http://purl.obolibrary.org/obo/MONDO_0008224	NANDO:1200504	遺伝性高カリウム性周期性四肢麻痺	Hereditary hyperkalemic periodic paralysis
C0238358	MedGen UID:116058	Hypokalemic periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/116058	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008223	http://purl.obolibrary.org/obo/MONDO_0008223	NANDO:1200503	遺伝性低カリウム性周期性四肢麻痺	Hereditary hypokalemic periodic paralysis
C0264511	MedGen UID:82682	Lymphoid interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/82682	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009537	http://purl.obolibrary.org/obo/MONDO_0009537	NANDO:1200424	リンパ球性間質性肺炎	Lymphoid interstitial pneumonia
C0265354	MedGen UID:75567	CHARGE syndrome	http://www.ncbi.nlm.nih.gov/medgen/75567	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008965	http://purl.obolibrary.org/obo/MONDO_0008965	NANDO:1200464	チャージ症候群	CHARGE syndrome
C0877024	MedGen UID:164078	Schimke immuno-osseous dysplasia	http://www.ncbi.nlm.nih.gov/medgen/164078	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009458	http://purl.obolibrary.org/obo/MONDO_0009458	NANDO:1200337	シムケ症候群	Schimke syndrome
C1851943	MedGen UID:342124	Torsion dystonia 4	http://www.ncbi.nlm.nih.gov/medgen/342124	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007493	http://purl.obolibrary.org/obo/MONDO_0007493	NANDO:1200515	DYT4ジストニア	Dystonia 4
C0175702	MedGen UID:59799	Williams syndrome	http://www.ncbi.nlm.nih.gov/medgen/59799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008678	http://purl.obolibrary.org/obo/MONDO_0008678	NANDO:1200664	ウィリアムズ症候群	Williams syndrome
C0221060	MedGen UID:66357	Oromandibular-limb hypogenesis spectrum	http://www.ncbi.nlm.nih.gov/medgen/66357	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008006	http://purl.obolibrary.org/obo/MONDO_0008006	NANDO:1200559	メビウス症候群	Moebius syndrome
C5234850	MedGen UID:1714404	Antley-Bixler syndrome	http://www.ncbi.nlm.nih.gov/medgen/1714404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008803	http://purl.obolibrary.org/obo/MONDO_0008803	NANDO:1200669	アントレー・ビクスラー症候群	Antley-Bixler syndrome
C0024796	MedGen UID:44287	Marfan syndrome	http://www.ncbi.nlm.nih.gov/medgen/44287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007947	http://purl.obolibrary.org/obo/MONDO_0007947	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
C0268337	MedGen UID:75670	Ehlers-Danlos syndrome, type 3	http://www.ncbi.nlm.nih.gov/medgen/75670	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007523	http://purl.obolibrary.org/obo/MONDO_0007523	NANDO:1200647	関節型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, hypermobility type
C0270726	MedGen UID:78724	Alexander disease	http://www.ncbi.nlm.nih.gov/medgen/78724	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008752	http://purl.obolibrary.org/obo/MONDO_0008752	NANDO:1200554	アレキサンダー病	Alexander disease
C0432306	MedGen UID:98153	Ichthyosis bullosa of Siemens	http://www.ncbi.nlm.nih.gov/medgen/98153	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007813	http://purl.obolibrary.org/obo/MONDO_0007813	NANDO:1200613	表在性表皮融解性魚鱗癬	Superficial epidermolytic ichthyosis
C1855675	MedGen UID:340930	Joubert syndrome with oculorenal defect	http://www.ncbi.nlm.nih.gov/medgen/340930	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009480	http://purl.obolibrary.org/obo/MONDO_0009480	NANDO:1200662	有馬症候群	Arima syndrome
C1856113	MedGen UID:341067	Mowat-Wilson syndrome	http://www.ncbi.nlm.nih.gov/medgen/341067	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009341	http://purl.obolibrary.org/obo/MONDO_0009341	NANDO:1200663	モワット・ウィルソン症候群	Mowat-Wilson syndrome
C1857093	MedGen UID:346511	Torsion dystonia 2	http://www.ncbi.nlm.nih.gov/medgen/346511	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009141	http://purl.obolibrary.org/obo/MONDO_0009141	NANDO:1200513	DYT2ジストニア	Dystonia 2
C1857316	MedGen UID:387795	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	http://www.ncbi.nlm.nih.gov/medgen/387795	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009092	http://purl.obolibrary.org/obo/MONDO_0009092	NANDO:1200658	那須・ハコラ病	Nasu-Hakola disease
C4225429	MedGen UID:909864	Ehlers-Danlos syndrome, classic type	http://www.ncbi.nlm.nih.gov/medgen/909864	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007522	http://purl.obolibrary.org/obo/MONDO_0007522	NANDO:1200646	古典型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, classical type
C4225671	MedGen UID:902479	VATER association	http://www.ncbi.nlm.nih.gov/medgen/902479	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008642	http://purl.obolibrary.org/obo/MONDO_0008642	NANDO:1200657	VATER症候群	VATER syndrome
C0085106	MedGen UID:43100	Familial benign pemphigus	http://www.ncbi.nlm.nih.gov/medgen/43100	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008218	http://purl.obolibrary.org/obo/MONDO_0008218	NANDO:1200631	家族性良性慢性天疱瘡	Benign familial pemphigus
C0598226	MedGen UID:108615	Autosomal recessive congenital ichthyosis 4B	http://www.ncbi.nlm.nih.gov/medgen/108615	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009443	http://purl.obolibrary.org/obo/MONDO_0009443	NANDO:1200614	道化師様魚鱗癬	Harlequin ichthyosis
C4551623	MedGen UID:1645042	Ehlers-Danlos syndrome, arthrochalasia type	http://www.ncbi.nlm.nih.gov/medgen/1645042	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007525	http://purl.obolibrary.org/obo/MONDO_0007525	NANDO:1200650	多発関節弛緩型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, arthrochalasis type
C0032897	MedGen UID:46057	Prader-Willi syndrome	http://www.ncbi.nlm.nih.gov/medgen/46057	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008300	http://purl.obolibrary.org/obo/MONDO_0008300	NANDO:1200678	プラダー・ウィリ症候群	Prader-Willi syndrome
C0038505	MedGen UID:21361	Sturge-Weber syndrome	http://www.ncbi.nlm.nih.gov/medgen/21361	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008501	http://purl.obolibrary.org/obo/MONDO_0008501	NANDO:1200606	スタージ・ウェーバー症候群	Sturge-Weber syndrome
C0282512	MedGen UID:79465	Landau-Kleffner syndrome	http://www.ncbi.nlm.nih.gov/medgen/79465	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009509	http://purl.obolibrary.org/obo/MONDO_0009509	NANDO:1200602	ランドウ・クレフナー症候群	Landau-Kleffner syndrome
C1868594	MedGen UID:357007	Perry syndrome	http://www.ncbi.nlm.nih.gov/medgen/357007	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008201	http://purl.obolibrary.org/obo/MONDO_0008201	NANDO:1200547	ペリー病	Perry disease
C1868681	MedGen UID:358384	Dystonia 12	http://www.ncbi.nlm.nih.gov/medgen/358384	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007496	http://purl.obolibrary.org/obo/MONDO_0007496	NANDO:1200523	DYT12ジストニア	Dystonia 12
C2700425	MedGen UID:397792	Ehlers-Danlos syndrome, dermatosparaxis type	http://www.ncbi.nlm.nih.gov/medgen/397792	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009161	http://purl.obolibrary.org/obo/MONDO_0009161	NANDO:1200651	皮膚脆弱型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, dermatosparaxis type
C0018523	MedGen UID:6708	Pigmentary pallidal degeneration	http://www.ncbi.nlm.nih.gov/medgen/6708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009319	http://purl.obolibrary.org/obo/MONDO_0009319	NANDO:1200534	NBIA1	Neurodegeneration with brain iron accumulation type 1
C0796204	MedGen UID:163228	Worster-Drought syndrome	http://www.ncbi.nlm.nih.gov/medgen/163228	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008503	http://purl.obolibrary.org/obo/MONDO_0008503	NANDO:1200558	先天性核上性球麻痺	Congenital suprabulbar paresis
C0398595	MedGen UID:96015	Myeloperoxidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/96015	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009694	http://purl.obolibrary.org/obo/MONDO_0009694	NANDO:1200358	ミエロペルオキシダーゼ欠損症	Myeloperoxidase deficiency
C1847501	MedGen UID:337833	GLUT1 deficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/337833	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000188	http://purl.obolibrary.org/obo/MONDO_0000188	NANDO:1200799	グルコーストランスポーター1欠損症	Glucose transporter 1 deficiency
C0001080	MedGen UID:1289	Achondroplasia	http://www.ncbi.nlm.nih.gov/medgen/1289	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007037	http://purl.obolibrary.org/obo/MONDO_0007037	NANDO:1200877	軟骨無形成症	Achondroplasia
C0010314	MedGen UID:41345	5p partial monosomy syndrome	http://www.ncbi.nlm.nih.gov/medgen/41345	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007404	http://purl.obolibrary.org/obo/MONDO_0007404	NANDO:1200684	5p欠失症候群	5p deletion syndrome
C0162531	MedGen UID:57931	Hereditary coproporphyria	http://www.ncbi.nlm.nih.gov/medgen/57931	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007369	http://purl.obolibrary.org/obo/MONDO_0007369	NANDO:1200813	遺伝性コプロポルフィリン症	Hereditary coproporphyria
C0162565	MedGen UID:56452	Acute intermittent porphyria	http://www.ncbi.nlm.nih.gov/medgen/56452	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008294	http://purl.obolibrary.org/obo/MONDO_0008294	NANDO:1200812	急性間欠性ポルフィリン症	Acute intermittent porphyria
C0162568	MedGen UID:56455	Erythropoietic protoporphyria	http://www.ncbi.nlm.nih.gov/medgen/56455	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001676	http://purl.obolibrary.org/obo/MONDO_0001676	NANDO:1200815	赤芽球性プロトポルフィリン症	Erythropoietic protoporphyria
C0162635	MedGen UID:58144	Angelman syndrome	http://www.ncbi.nlm.nih.gov/medgen/58144	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007113	http://purl.obolibrary.org/obo/MONDO_0007113	NANDO:1200686	アンジェルマン症候群	Angelman syndrome
C0221032	MedGen UID:67438	Congenital generalized lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/67438	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006536	http://purl.obolibrary.org/obo/MONDO_0006536	NANDO:1200859	先天性全身性脂肪萎縮症	Generalized congenital lipodystrophy
C0022739	MedGen UID:9646	Angioosteohypertrophic syndrome	http://www.ncbi.nlm.nih.gov/medgen/9646	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007864	http://purl.obolibrary.org/obo/MONDO_0007864	NANDO:1200884	クリッペル・トレノネー・ウェーバー症候群	Klippel-Trenaunay-Weber syndrome
C0023787	MedGen UID:6111	Lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006573	http://purl.obolibrary.org/obo/MONDO_0006573	NANDO:1200858	脂肪萎縮症	Lipodystrophy
C0026269	MedGen UID:44466	Mitral stenosis	http://www.ncbi.nlm.nih.gov/medgen/44466	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005852	http://purl.obolibrary.org/obo/MONDO_0005852	NANDO:1200963	先天性僧帽弁狭窄症	Congenital mitral stenosis
C0027721	MedGen UID:10307	Lipoid nephrosis	http://www.ncbi.nlm.nih.gov/medgen/10307	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006835	http://purl.obolibrary.org/obo/MONDO_0006835	NANDO:1200720	微小変化型ネフローゼ症候群	Minimal change nephrotic syndrome
C0029438	MedGen UID:45248	Gorham-Stout disease	http://www.ncbi.nlm.nih.gov/medgen/45248	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007414	http://purl.obolibrary.org/obo/MONDO_0007414	NANDO:1200878	リンパ管腫症/ゴーハム病	Lymphangiomatosis / Gorham-Stout disease
C0268583	MedGen UID:120654	Methylmalonic acidemia	http://www.ncbi.nlm.nih.gov/medgen/120654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002012	http://purl.obolibrary.org/obo/MONDO_0002012	NANDO:1200793	メチルマロン酸血症	Methylmalonic acidemia
C0403416	MedGen UID:96040	Crescentic glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/96040	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001645	http://purl.obolibrary.org/obo/MONDO_0001645	NANDO:1200723	半月体形成性糸球体腎炎	Crescentic glomerulonephritis
C0085280	MedGen UID:39014	Arteriohepatic dysplasia	http://www.ncbi.nlm.nih.gov/medgen/39014	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007318	http://purl.obolibrary.org/obo/MONDO_0007318	NANDO:1200918	アラジール症候群	Alagille syndrome
C0152101	MedGen UID:57746	Hypoplastic left heart syndrome	http://www.ncbi.nlm.nih.gov/medgen/57746	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004933	http://purl.obolibrary.org/obo/MONDO_0004933	NANDO:1200705	左心低形成症候群	Hypoplastic left heart syndrome
C0154246	MedGen UID:57586	Disorder of the urea cycle metabolism	http://www.ncbi.nlm.nih.gov/medgen/57586	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004739	http://purl.obolibrary.org/obo/MONDO_0004739	NANDO:1200802	尿素サイクル異常症	Urea cycle disorder
C0339510	MedGen UID:137920	Vitelliform macular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/137920	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000390	http://purl.obolibrary.org/obo/MONDO_0000390	NANDO:1200932	卵黄様黄斑ジストロフィー	Vitelliform macular dystrophy
C0339534	MedGen UID:83288	Usher syndrome type 2	http://www.ncbi.nlm.nih.gov/medgen/83288	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016484	http://purl.obolibrary.org/obo/MONDO_0016484	NANDO:1200943	アッシャー症候群2型	Usher syndrome Type II
C0730290	MedGen UID:676499	Cone dystrophy	http://www.ncbi.nlm.nih.gov/medgen/676499	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000455	http://purl.obolibrary.org/obo/MONDO_0000455	NANDO:1200936	錐体ジストロフィー	Cone dystrophy
C5676874	MedGen UID:1801596	Congenital dyserythropoietic anemia, type III	http://www.ncbi.nlm.nih.gov/medgen/1801596	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007109	http://purl.obolibrary.org/obo/MONDO_0007109	NANDO:1200888	先天性赤血球形成異常性貧血 Type III	Congenital dyserythropoietic anemia type III
C0038013	MedGen UID:11561	Ankylosing spondylitis	http://www.ncbi.nlm.nih.gov/medgen/11561	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005306	http://purl.obolibrary.org/obo/MONDO_0005306	NANDO:1200870	強直性脊椎炎	Ankylosing spondylitis
C0282207	MedGen UID:129128	Cronkhite-Canada syndrome	http://www.ncbi.nlm.nih.gov/medgen/129128	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008283	http://purl.obolibrary.org/obo/MONDO_0008283	NANDO:1200901	クロンカイト・カナダ症候群	Cronkhite-Canada syndrome
C5400698	MedGen UID:1763046	Pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/1763046	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001437	http://purl.obolibrary.org/obo/MONDO_0001437	NANDO:1200746	肺胞蛋白症	Pulmonary alveolar proteinosis
C0016037	MedGen UID:4698	Progressive myositis ossificans	http://www.ncbi.nlm.nih.gov/medgen/4698	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007606	http://purl.obolibrary.org/obo/MONDO_0007606	NANDO:1200871	進行性骨化性線維異形成症	Fibrodysplasia ossificans progressiva
C0017665	MedGen UID:42231	Membranous nephropathy	http://www.ncbi.nlm.nih.gov/medgen/42231	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005376	http://purl.obolibrary.org/obo/MONDO_0005376	NANDO:1200721	膜性腎症	Membranous nephropathy
C0020626	MedGen UID:6985	Hypoparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/6985	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001220	http://purl.obolibrary.org/obo/MONDO_0001220	NANDO:1200775	副甲状腺機能低下症	Hypoparathyroidism
C0235833	MedGen UID:68625	Congenital diaphragmatic hernia	http://www.ncbi.nlm.nih.gov/medgen/68625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005711	http://purl.obolibrary.org/obo/MONDO_0005711	NANDO:1200911	先天性横隔膜ヘルニア	Congenital diaphragmatic hernia
C0238339	MedGen UID:116056	Hereditary pancreatitis	http://www.ncbi.nlm.nih.gov/medgen/116056	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008185	http://purl.obolibrary.org/obo/MONDO_0008185	NANDO:1200921	遺伝性膵炎	Hereditary pancreatitis
C1332309	MedGen UID:231383	Anti-basement membrane glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/231383	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003136	http://purl.obolibrary.org/obo/MONDO_0003136	NANDO:1200717	急速進行性糸球体腎炎（抗GBM抗体陽性）	Anti-GBM rapidly progressive glomerulonephritis
CN327126	MedGen UID:1008296	Inherited focal segmental glomerulosclerosis	http://www.ncbi.nlm.nih.gov/medgen/1008296	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005363	http://purl.obolibrary.org/obo/MONDO_0005363	NANDO:1200722	巣状分節性糸球体硬化症	Focal segmental glomerulosclerosis
C1855102	MedGen UID:344420	Methylmalonic aciduria, cblB type	http://www.ncbi.nlm.nih.gov/medgen/344420	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009614	http://purl.obolibrary.org/obo/MONDO_0009614	NANDO:1200796	コバラミン代謝異常 cblB	Methylmalonic acidemia cblB type
C1855109	MedGen UID:344422	Methylmalonic aciduria, cblA type	http://www.ncbi.nlm.nih.gov/medgen/344422	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009613	http://purl.obolibrary.org/obo/MONDO_0009613	NANDO:1200795	コバラミン代謝異常 cblA	Methylmalonic acidemia cblA type
C1855114	MedGen UID:344424	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	http://www.ncbi.nlm.nih.gov/medgen/344424	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009612	http://purl.obolibrary.org/obo/MONDO_0009612	NANDO:1200794	コバラミン代謝異常（MCM欠損症）	Methylmalonyl-Coenzyme A mutase deficiency
C0162532	MedGen UID:58118	Variegate porphyria	http://www.ncbi.nlm.nih.gov/medgen/58118	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008297	http://purl.obolibrary.org/obo/MONDO_0008297	NANDO:1200814	異型ポルフィリン症	Variegate porphyria
C0024776	MedGen UID:6217	Maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/6217	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009563	http://purl.obolibrary.org/obo/MONDO_0009563	NANDO:1200791	メープルシロップ尿症	Maple syrup urine disease
C0268543	MedGen UID:120649	Hyperammonemia, type III	http://www.ncbi.nlm.nih.gov/medgen/120649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009377	http://purl.obolibrary.org/obo/MONDO_0009377	NANDO:1200808	NAGS欠損症	NAGS deficiency
C0268547	MedGen UID:78687	Argininosuccinate lyase deficiency	http://www.ncbi.nlm.nih.gov/medgen/78687	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008815	http://purl.obolibrary.org/obo/MONDO_0008815	NANDO:1200806	アルギニノコハク酸尿症	Argininosuccinic aciduria
C0268548	MedGen UID:78688	Arginase deficiency	http://www.ncbi.nlm.nih.gov/medgen/78688	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008814	http://purl.obolibrary.org/obo/MONDO_0008814	NANDO:1200807	アルギニン血症	Argininemia
C0268575	MedGen UID:82822	Isovaleryl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/82822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009475	http://purl.obolibrary.org/obo/MONDO_0009475	NANDO:1200798	イソ吉草酸血症	Isovaleric acidemia
C0268595	MedGen UID:124337	Glutaric aciduria, type 1	http://www.ncbi.nlm.nih.gov/medgen/124337	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009281	http://purl.obolibrary.org/obo/MONDO_0009281	NANDO:1200800	グルタル酸血症1型	Glutaric acidemia type 1
C0268596	MedGen UID:75696	Multiple acyl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75696	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009282	http://purl.obolibrary.org/obo/MONDO_0009282	NANDO:1200801	グルタル酸血症2型	Glutaric acidemia type 2
C0268647	MedGen UID:75704	Lysinuric protein intolerance	http://www.ncbi.nlm.nih.gov/medgen/75704	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009109	http://purl.obolibrary.org/obo/MONDO_0009109	NANDO:1200809	リジン尿性蛋白不耐症	Lysinuric protein intolerance
C0403529	MedGen UID:140788	Anti-glomerular basement membrane disease	http://www.ncbi.nlm.nih.gov/medgen/140788	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009303	http://purl.obolibrary.org/obo/MONDO_0009303	NANDO:1200718	抗糸球体基底膜腎炎	Goodpasture syndrome
C1855861	MedGen UID:343430	Glycogen storage disorder due to hepatic glycogen synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/343430	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	NANDO:1200824	筋型糖原病0型	Glycogen storage diseases type 0
C1857242	MedGen UID:341734	Rhizomelic chondrodysplasia punctata type 2	http://www.ncbi.nlm.nih.gov/medgen/341734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009112	http://purl.obolibrary.org/obo/MONDO_0009112	NANDO:1200771	根性点状軟骨異形成症2型	Rhizomelic chondrodysplasia punctata type 2
C1859133	MedGen UID:347072	Rhizomelic chondrodysplasia punctata type 1	http://www.ncbi.nlm.nih.gov/medgen/347072	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008972	http://purl.obolibrary.org/obo/MONDO_0008972	NANDO:1200763	根性点状軟骨異形成症1型	Rhizomelic chondrodysplasia punctata type 1
C4082171	MedGen UID:907954	Congenital hyperammonemia, type I	http://www.ncbi.nlm.nih.gov/medgen/907954	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009376	http://purl.obolibrary.org/obo/MONDO_0009376	NANDO:1200803	CPSI欠損症	Carbamoyl phosphate synthetase I deficiency
C4721769	MedGen UID:1648491	Citrullinemia type I	http://www.ncbi.nlm.nih.gov/medgen/1648491	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008988	http://purl.obolibrary.org/obo/MONDO_0008988	NANDO:1200805	古典型シトルリン血症	Classic citrullinemia
C0342705	MedGen UID:83348	Congenital defect of folate absorption	http://www.ncbi.nlm.nih.gov/medgen/83348	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009238	http://purl.obolibrary.org/obo/MONDO_0009238	NANDO:1200810	先天性葉酸吸収不全症	Hereditary folate malabsorption
C0344976	MedGen UID:87492	Pulmonary atresia with ventricular septal defect	http://www.ncbi.nlm.nih.gov/medgen/87492	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008343	http://purl.obolibrary.org/obo/MONDO_0008343	NANDO:1200708	心室中隔欠損を伴う肺動脈閉鎖症	Pulmonary atresia with ventricular septal defect
C0039685	MedGen UID:21498	Tetralogy of Fallot	http://www.ncbi.nlm.nih.gov/medgen/21498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008542	http://purl.obolibrary.org/obo/MONDO_0008542	NANDO:1200709	ファロー四徴症	Tetralogy of Fallot
C1956097	MedGen UID:408255	4p partial monosomy syndrome	http://www.ncbi.nlm.nih.gov/medgen/408255	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008684	http://purl.obolibrary.org/obo/MONDO_0008684	NANDO:1200683	4p欠失症候群	4p deletion syndrome
C0013481	MedGen UID:4435	Ebstein anomaly	http://www.ncbi.nlm.nih.gov/medgen/4435	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009144	http://purl.obolibrary.org/obo/MONDO_0009144	NANDO:1200711	エプスタイン病	Ebstein's anomaly
C0017921	MedGen UID:5340	Glycogen storage disease, type II	http://www.ncbi.nlm.nih.gov/medgen/5340	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009290	http://purl.obolibrary.org/obo/MONDO_0009290	NANDO:1200825	筋型糖原病II型	Glycogen storage diseases type II
C0020807	MedGen UID:9403	Idiopathic pulmonary hemosiderosis	http://www.ncbi.nlm.nih.gov/medgen/9403	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008346	http://purl.obolibrary.org/obo/MONDO_0008346	NANDO:1200751	肺胞低換気症候群	Alveolar hypoventilation syndrome
C0795864	MedGen UID:162881	Smith-Magenis syndrome	http://www.ncbi.nlm.nih.gov/medgen/162881	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008434	http://purl.obolibrary.org/obo/MONDO_0008434	NANDO:1200687	スミス・マギニス症候群	Smith-Magenis syndrome
C0795949	MedGen UID:167086	Galloway-Mowat syndrome	http://www.ncbi.nlm.nih.gov/medgen/167086	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009627	http://purl.obolibrary.org/obo/MONDO_0009627	NANDO:1200713	ギャロウェイ・モワト症候群	Galloway-Mowat syndrome
C0000744	MedGen UID:1253	Abetalipoproteinaemia	http://www.ncbi.nlm.nih.gov/medgen/1253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008692	http://purl.obolibrary.org/obo/MONDO_0008692	NANDO:1200857	無βリポタンパク血症	Abetalipoproteinemia
C0005411	MedGen UID:14117	Biliary atresia	http://www.ncbi.nlm.nih.gov/medgen/14117	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008867	http://purl.obolibrary.org/obo/MONDO_0008867	NANDO:1200913	胆道閉鎖症	Biliary atresia
C0010674	MedGen UID:41393	Cystic fibrosis	http://www.ncbi.nlm.nih.gov/medgen/41393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009061	http://purl.obolibrary.org/obo/MONDO_0009061	NANDO:1200922	嚢胞性線維症	Cystic fibrosis
C0268146	MedGen UID:78644	Glucose-6-phosphate transport defect	http://www.ncbi.nlm.nih.gov/medgen/78644	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009288	http://purl.obolibrary.org/obo/MONDO_0009288	NANDO:1200841	肝型糖原病Ib型	Hepatic glycogen storage disease type Ib
C0268151	MedGen UID:82777	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/medgen/82777	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009258	http://purl.obolibrary.org/obo/MONDO_0009258	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
C0342907	MedGen UID:87466	Sitosterolemia	http://www.ncbi.nlm.nih.gov/medgen/87466	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008863	http://purl.obolibrary.org/obo/MONDO_0008863	NANDO:1200853	シトステロール血症	Sitosterolemia
C0039292	MedGen UID:52644	Tangier disease	http://www.ncbi.nlm.nih.gov/medgen/52644	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008783	http://purl.obolibrary.org/obo/MONDO_0008783	NANDO:1200854	タンジール病	Tangier disease
C1868678	MedGen UID:358383	Thanatophoric dysplasia type 1	http://www.ncbi.nlm.nih.gov/medgen/358383	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008546	http://purl.obolibrary.org/obo/MONDO_0008546	NANDO:1200875	タナトフォリック骨異形成症1型	Thanatophoric dysplasia type 1
C0017922	MedGen UID:6641	Glycogen storage disease type III	http://www.ncbi.nlm.nih.gov/medgen/6641	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	NANDO:1200826	筋型糖原病III型	Glycogen storage diseases type III
C0017923	MedGen UID:6642	Glycogen storage disease, type IV	http://www.ncbi.nlm.nih.gov/medgen/6642	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009292	http://purl.obolibrary.org/obo/MONDO_0009292	NANDO:1200827	筋型糖原病IV型	Glycogen storage diseases type IV
C0017924	MedGen UID:5341	Glycogen storage disease, type V	http://www.ncbi.nlm.nih.gov/medgen/5341	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009293	http://purl.obolibrary.org/obo/MONDO_0009293	NANDO:1200828	筋型糖原病V型	Glycogen storage diseases type V
C0017925	MedGen UID:6643	Glycogen storage disease, type VI	http://www.ncbi.nlm.nih.gov/medgen/6643	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009294	http://purl.obolibrary.org/obo/MONDO_0009294	NANDO:1200846	肝型糖原病VI型	Hepatic glycogen storage disease type VI
C0017926	MedGen UID:5342	Glycogen storage disease, type VII	http://www.ncbi.nlm.nih.gov/medgen/5342	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009295	http://purl.obolibrary.org/obo/MONDO_0009295	NANDO:1200829	筋型糖原病VII型	Glycogen storage diseases type VII
C0238052	MedGen UID:116041	Cholestanol storage disease	http://www.ncbi.nlm.nih.gov/medgen/116041	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008948	http://purl.obolibrary.org/obo/MONDO_0008948	NANDO:1200856	脳腱黄色腫症	Cerebrotendinous xanthomatosis
C1300257	MedGen UID:226975	Thanatophoric dysplasia, type 2	http://www.ncbi.nlm.nih.gov/medgen/226975	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008547	http://purl.obolibrary.org/obo/MONDO_0008547	NANDO:1200876	タナトフォリック骨異形成症2型	Thanatophoric dysplasia type 2
C1306589	MedGen UID:266296	Congenital dyserythropoietic anemia, type II	http://www.ncbi.nlm.nih.gov/medgen/266296	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009134	http://purl.obolibrary.org/obo/MONDO_0009134	NANDO:1200887	先天性赤血球形成異常性貧血 Type II	Congenital dyserythropoietic anemia type II
C1536451	MedGen UID:283932	Central areolar choroidal dystrophy	http://www.ncbi.nlm.nih.gov/medgen/283932	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008982	http://purl.obolibrary.org/obo/MONDO_0008982	NANDO:1200939	中心性輪紋状脈絡膜ジストロフィー	Central areolar choroidal dystrophy
CN293506	MedGen UID:976601	Autosomal recessive familial Mediterranean fever	http://www.ncbi.nlm.nih.gov/medgen/976601	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009572	http://purl.obolibrary.org/obo/MONDO_0009572	NANDO:1200864	家族性地中海熱典型例	Typical familial Mediterranean fever
C0220754	MedGen UID:66323	Biotinidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/66323	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009665	http://purl.obolibrary.org/obo/MONDO_0009665	NANDO:1200822	ビオチニダーゼ欠損症	Biotinidase deficiency
C0268581	MedGen UID:120653	Holocarboxylase synthetase deficiency	http://www.ncbi.nlm.nih.gov/medgen/120653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009666	http://purl.obolibrary.org/obo/MONDO_0009666	NANDO:1200821	ホロカルボキシラーゼ合成酵素欠損症	Holocarboxylase synthetase deficiency
C0751783	MedGen UID:155631	Lafora disease	http://www.ncbi.nlm.nih.gov/medgen/155631	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009697	http://purl.obolibrary.org/obo/MONDO_0009697	NANDO:1200955	ラフォラ病	Lafora disease
C0751785	MedGen UID:155923	Unverricht-Lundborg syndrome	http://www.ncbi.nlm.nih.gov/medgen/155923	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009698	http://purl.obolibrary.org/obo/MONDO_0009698	NANDO:1200954	ウンフェルリヒト・ルントボルグ病	Unverricht-Lundborg disease
C0007115	MedGen UID:2869	Malignant tumor of thyroid gland	http://www.ncbi.nlm.nih.gov/medgen/2869	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002108	http://purl.obolibrary.org/obo/MONDO_0002108	NANDO:2200074	甲状腺癌	Thyroid cancer
C5244016	MedGen UID:1826001	Cerebral creatine deficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/1826001	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000456	http://purl.obolibrary.org/obo/MONDO_0000456	NANDO:1201032	脳クレアチン欠乏症候群	Cerebral creatine deficiency syndromes
C0266464	MedGen UID:78605	Polymicrogyria	http://www.ncbi.nlm.nih.gov/medgen/78605	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000087	http://purl.obolibrary.org/obo/MONDO_0000087	NANDO:1201071	多小脳回	Polymicrogyria
C0948750	MedGen UID:215302	Salivary gland carcinoma	http://www.ncbi.nlm.nih.gov/medgen/215302	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000521	http://purl.obolibrary.org/obo/MONDO_0000521	NANDO:2200076	唾液腺癌	Salivary grand carcinoma
C0085078	MedGen UID:43098	Lysosomal storage disease	http://www.ncbi.nlm.nih.gov/medgen/43098	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002561	http://purl.obolibrary.org/obo/MONDO_0002561	NANDO:2100165	ライソゾーム病	Lysosomal storage disease
C0034013	MedGen UID:18752	Precocious puberty	http://www.ncbi.nlm.nih.gov/medgen/18752	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000088	http://purl.obolibrary.org/obo/MONDO_0000088	NANDO:2100135	思春期早発症	Precocious puberty
C0034902	MedGen UID:11154	Pure red-cell aplasia	http://www.ncbi.nlm.nih.gov/medgen/11154	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001705	http://purl.obolibrary.org/obo/MONDO_0001705	NANDO:2100177	赤芽球癆	Pure red cell aplasia
C0279584	MedGen UID:83526	B-cell childhood acute lymphoblastic leukemia	http://www.ncbi.nlm.nih.gov/medgen/83526	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000872	http://purl.obolibrary.org/obo/MONDO_0000872	NANDO:2200002	成熟B細胞急性リンパ性白血病	Mature B-cell lymphoblastic leukemia
C0334108	MedGen UID:137722	Polyposis	http://www.ncbi.nlm.nih.gov/medgen/137722	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000147	http://purl.obolibrary.org/obo/MONDO_0000147	NANDO:2100257	ポリポーシス	Polyposis
C2930619	MedGen UID:415936	Disorder of sexual differentiation	http://www.ncbi.nlm.nih.gov/medgen/415936	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002145	http://purl.obolibrary.org/obo/MONDO_0002145	NANDO:2100140	性分化疾患	Disorders of sex development
C0017920	MedGen UID:6640	Glycogen storage disease, type I	http://www.ncbi.nlm.nih.gov/medgen/6640	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002413	http://purl.obolibrary.org/obo/MONDO_0002413	NANDO:1201018	肝型糖原病I型	Hepatic glycogen storage disease type I
C0242666	MedGen UID:69229	Protein S deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/69229	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002304	http://purl.obolibrary.org/obo/MONDO_0002304	NANDO:1201081	先天性プロテインS欠乏症	Protein S deficiency
C1622345	MedGen UID:301243	Finnish type amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/301243	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007097	http://purl.obolibrary.org/obo/MONDO_0007097	NANDO:1201063	家族性アミロイドニューロパチーIV型	Familial amyloid polyneuropathy type 4
C0009326	MedGen UID:3157	Rheumatic disorder	http://www.ncbi.nlm.nih.gov/medgen/3157	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005554	http://purl.obolibrary.org/obo/MONDO_0005554	NANDO:2100151	膠原病	Collagen disease
C0009782	MedGen UID:1098	Connective tissue disorder	http://www.ncbi.nlm.nih.gov/medgen/1098	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003900	http://purl.obolibrary.org/obo/MONDO_0003900	NANDO:2100172	結合組織異常症	Connective tissue disorder
C0011848	MedGen UID:8349	Diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/8349	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004782	http://purl.obolibrary.org/obo/MONDO_0004782	NANDO:2100117	尿崩症	Diabetes insipidus
C0011849	MedGen UID:8350	Diabetes mellitus	http://www.ncbi.nlm.nih.gov/medgen/8350	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005015	http://purl.obolibrary.org/obo/MONDO_0005015	NANDO:2100157	糖尿病	Diabetes
C2932717	MedGen UID:444371	Pseudohypoparathyroidism type II	http://www.ncbi.nlm.nih.gov/medgen/444371	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008749	http://purl.obolibrary.org/obo/MONDO_0008749	NANDO:1201078	偽性副甲状腺機能低下症II型	Pseudohypoparathyroidism type 2
C3159322	MedGen UID:463613	Spondyloepimetaphyseal dysplasia, Maroteaux type	http://www.ncbi.nlm.nih.gov/medgen/463613	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008473	http://purl.obolibrary.org/obo/MONDO_0008473	NANDO:1201100	脊椎骨端骨幹端異形成症Maroteaux 型	Spondyloepimetaphyseal dysplasia, Maroteaux type 
CN030853	MedGen UID:1841549	Ehlers-Danlos syndrome progeroid type	http://www.ncbi.nlm.nih.gov/medgen/1841549	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007526	http://purl.obolibrary.org/obo/MONDO_0007526	NANDO:1201088	脊椎異形成型エーラス・ダンロス症候群	Spondylodysplastic Ehlers-Danlos syndrome
C0023418	MedGen UID:9725	Leukemia	http://www.ncbi.nlm.nih.gov/medgen/9725	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005059	http://purl.obolibrary.org/obo/MONDO_0005059	NANDO:2100002	白血病	Leukemia
C0024299	MedGen UID:44223	Lymphoma	http://www.ncbi.nlm.nih.gov/medgen/44223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005062	http://purl.obolibrary.org/obo/MONDO_0005062	NANDO:2100004	リンパ腫	Lymphoma
C0027341	MedGen UID:10257	Nail-patella syndrome	http://www.ncbi.nlm.nih.gov/medgen/10257	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008061	http://purl.obolibrary.org/obo/MONDO_0008061	NANDO:1200967	ネイル・パテラ症候群	Nail-patella syndrome
C0027726	MedGen UID:10308	Nephrotic syndrome	http://www.ncbi.nlm.nih.gov/medgen/10308	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005377	http://purl.obolibrary.org/obo/MONDO_0005377	NANDO:2100009	ネフローゼ症候群	Nephrotic syndrome
C0268347	MedGen UID:82791	Ehlers-Danlos syndrome, periodontitis type	http://www.ncbi.nlm.nih.gov/medgen/82791	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007527	http://purl.obolibrary.org/obo/MONDO_0007527	NANDO:1201091	歯周型エーラス・ダンロス症候群	Periodontal Ehlers-Danlos syndrome
C0348374	MedGen UID:87593	Malignant neoplasm of the central nervous system	http://www.ncbi.nlm.nih.gov/medgen/87593	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002714	http://purl.obolibrary.org/obo/MONDO_0002714	NANDO:2100007	中枢神経系腫瘍	Central nervous system tumors
C3494506	MedGen UID:488447	Pseudohypoparathyroidism type I A	http://www.ncbi.nlm.nih.gov/medgen/488447	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007078	http://purl.obolibrary.org/obo/MONDO_0007078	NANDO:1201075	偽性副甲状腺機能低下症Ia型	Pseudohypoparathyroidism type 1A
C0085215	MedGen UID:38820	Premature ovarian failure	http://www.ncbi.nlm.nih.gov/medgen/38820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005387	http://purl.obolibrary.org/obo/MONDO_0005387	NANDO:2100139	高ゴナドトロピン性性腺機能低下症	Hypergonadotropic hypogonadism
C0339273	MedGen UID:90939	Gelatinous droplike corneal dystrophy	http://www.ncbi.nlm.nih.gov/medgen/90939	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008777	http://purl.obolibrary.org/obo/MONDO_0008777	NANDO:1201006	膠様滴状角膜ジストロフィー	Gelatinous drop-like corneal dystrophy
C0342788	MedGen UID:90999	Renal carnitine transport defect	http://www.ncbi.nlm.nih.gov/medgen/90999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008919	http://purl.obolibrary.org/obo/MONDO_0008919	NANDO:1200973	カルニチントランスポーター欠損症	Systemic primary carnitine deficiency
C0342791	MedGen UID:91000	Carnitine acylcarnitine translocase deficiency	http://www.ncbi.nlm.nih.gov/medgen/91000	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008918	http://purl.obolibrary.org/obo/MONDO_0008918	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
C0033300	MedGen UID:46123	Hutchinson-Gilford syndrome	http://www.ncbi.nlm.nih.gov/medgen/46123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008310	http://purl.obolibrary.org/obo/MONDO_0008310	NANDO:1201007	ハッチンソン・ギルフォード症候群	Hutchinson-Gilford syndrome
C0042514	MedGen UID:12068	Ventricular tachycardia	http://www.ncbi.nlm.nih.gov/medgen/12068	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005477	http://purl.obolibrary.org/obo/MONDO_0005477	NANDO:2100049	心室頻拍	Ventricular tachycardia
C0014130	MedGen UID:4043	Disorder of endocrine system	http://www.ncbi.nlm.nih.gov/medgen/4043	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005151	http://purl.obolibrary.org/obo/MONDO_0005151	NANDO:2100109	内分泌疾患	Endocrine disease
C0018817	MedGen UID:6753	Atrial septal defect	http://www.ncbi.nlm.nih.gov/medgen/6753	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006664	http://purl.obolibrary.org/obo/MONDO_0006664	NANDO:2100085	心房中隔欠損症	Atrial septal defect
C0018824	MedGen UID:5463	cardiac valvular disease	http://www.ncbi.nlm.nih.gov/medgen/5463	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002869	http://purl.obolibrary.org/obo/MONDO_0002869	NANDO:2100105	心臓弁膜症	Valvular heart disease
C0018939	MedGen UID:5483	Hematologic disorder	http://www.ncbi.nlm.nih.gov/medgen/5483	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005570	http://purl.obolibrary.org/obo/MONDO_0005570	NANDO:2100175	血液疾患	Blood disease
C0019618	MedGen UID:6845	Histiocytosis	http://www.ncbi.nlm.nih.gov/medgen/6845	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002637	http://purl.obolibrary.org/obo/MONDO_0002637	NANDO:2100005	組織球症	Histiocytosis
C0019880	MedGen UID:42485	Homocystinuria	http://www.ncbi.nlm.nih.gov/medgen/42485	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004737	http://purl.obolibrary.org/obo/MONDO_0004737	NANDO:1201038	ホモシスチン尿症	Homocystinuria
C0020635	MedGen UID:9386	Hypopituitarism	http://www.ncbi.nlm.nih.gov/medgen/9386	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005152	http://purl.obolibrary.org/obo/MONDO_0005152	NANDO:2100110	下垂体機能低下症	Hypopituitarism
C0020676	MedGen UID:6991	Hypothyroidism	http://www.ncbi.nlm.nih.gov/medgen/6991	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005420	http://purl.obolibrary.org/obo/MONDO_0005420	NANDO:2100120	甲状腺機能低下症	Hypothyroidism
C0265280	MedGen UID:82698	Spondylometaphyseal dysplasia, Kozlowski type	http://www.ncbi.nlm.nih.gov/medgen/82698	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008477	http://purl.obolibrary.org/obo/MONDO_0008477	NANDO:1201101	脊椎骨幹端異形成症Kozlowski 型	Spondylometaphyseal dysplasia, Kozlowski type
C0265281	MedGen UID:82699	Metatropic dysplasia	http://www.ncbi.nlm.nih.gov/medgen/82699	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007986	http://purl.obolibrary.org/obo/MONDO_0007986	NANDO:1201099	変容性骨異形成症	Metatropic dysplasia
C1536500	MedGen UID:280689	Deficiency of acetyl-CoA acetyltransferase	http://www.ncbi.nlm.nih.gov/medgen/280689	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008760	http://purl.obolibrary.org/obo/MONDO_0008760	NANDO:1200987	β-ケトチオラーゼ欠損症	Beta-ketothiolase deficiency
C0002881	MedGen UID:1919	Familial hemolytic anemia	http://www.ncbi.nlm.nih.gov/medgen/1919	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003689	http://purl.obolibrary.org/obo/MONDO_0003689	NANDO:2100183	遺伝性溶血性貧血	Hereditary hemolytic anemia
C0005940	MedGen UID:14182	Disorder of bone	http://www.ncbi.nlm.nih.gov/medgen/14182	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005381	http://purl.obolibrary.org/obo/MONDO_0005381	NANDO:2100291	骨系統疾患	Bone disease
C0007134	MedGen UID:766	Renal cell carcinoma	http://www.ncbi.nlm.nih.gov/medgen/766	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005086	http://purl.obolibrary.org/obo/MONDO_0005086	NANDO:2200045	腎細胞癌	Renal cell carcinoma
C0008441	MedGen UID:40270	Chondroblastoma	http://www.ncbi.nlm.nih.gov/medgen/40270	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004997	http://purl.obolibrary.org/obo/MONDO_0004997	NANDO:2200051	軟骨芽細胞腫	Chondroblastoma
C0008479	MedGen UID:3054	Chondrosarcoma	http://www.ncbi.nlm.nih.gov/medgen/3054	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008977	http://purl.obolibrary.org/obo/MONDO_0008977	NANDO:2200050	軟骨肉腫	Chondrosarcoma
C0206718	MedGen UID:60218	Ganglioneuroblastoma	http://www.ncbi.nlm.nih.gov/medgen/60218	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005035	http://purl.obolibrary.org/obo/MONDO_0005035	NANDO:2200041	神経節芽腫	Ganglioneuroblastoma
C2239176	MedGen UID:389187	Hepatocellular carcinoma	http://www.ncbi.nlm.nih.gov/medgen/389187	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007256	http://purl.obolibrary.org/obo/MONDO_0007256	NANDO:2200047	肝細胞癌	Hepatocellular carcinoma
C0023465	MedGen UID:7319	Acute monocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/7319	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007896	http://purl.obolibrary.org/obo/MONDO_0007896	NANDO:2200009	急性単球性白血病	Acute monocytic leukemia
C0026998	MedGen UID:10232	Acute myeloblastic leukemia without maturation	http://www.ncbi.nlm.nih.gov/medgen/10232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005224	http://purl.obolibrary.org/obo/MONDO_0005224	NANDO:2200005	成熟を伴わない急性骨髄性白血病	Acute myeloid leukemia without maturation
C0027819	MedGen UID:18012	Neuroblastoma	http://www.ncbi.nlm.nih.gov/medgen/18012	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005072	http://purl.obolibrary.org/obo/MONDO_0005072	NANDO:2200040	神経芽腫	Neuroblastoma
C0522631	MedGen UID:101100	Acute myeloid leukemia with minimal differentiation	http://www.ncbi.nlm.nih.gov/medgen/101100	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005223	http://purl.obolibrary.org/obo/MONDO_0005223	NANDO:2200004	急性骨髄性白血病、最未分化	Acute myeloid leukemia with minimal differentiation
C1260325	MedGen UID:220355	Follicular dendritic cell sarcoma	http://www.ncbi.nlm.nih.gov/medgen/220355	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005764	http://purl.obolibrary.org/obo/MONDO_0005764	NANDO:2200034	濾胞樹状細胞肉腫	Follicular dendritic cell sarcoma
C1260326	MedGen UID:266040	Interdigitating dendritic cell sarcoma	http://www.ncbi.nlm.nih.gov/medgen/266040	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005813	http://purl.obolibrary.org/obo/MONDO_0005813	NANDO:2200035	指状嵌入樹状細胞肉腫	Interdigitating dendritic cell sarcoma
C0334488	MedGen UID:90791	Clear cell sarcoma of kidney	http://www.ncbi.nlm.nih.gov/medgen/90791	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005006	http://purl.obolibrary.org/obo/MONDO_0005006	NANDO:2200044	腎明細胞肉腫	Clear cell sarcoma of the kidney
C0334552	MedGen UID:87263	Malignancy in giant cell tumor of bone	http://www.ncbi.nlm.nih.gov/medgen/87263	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006287	http://purl.obolibrary.org/obo/MONDO_0006287	NANDO:2200052	悪性骨巨細胞腫	Malignancy in giant cell tumour of bone
C0035335	MedGen UID:20552	Retinoblastoma	http://www.ncbi.nlm.nih.gov/medgen/20552	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008380	http://purl.obolibrary.org/obo/MONDO_0008380	NANDO:2200042	網膜芽細胞腫	Retinoblastoma
C0035412	MedGen UID:20561	Rhabdomyosarcoma	http://www.ncbi.nlm.nih.gov/medgen/20561	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005212	http://purl.obolibrary.org/obo/MONDO_0005212	NANDO:2200056	横紋筋肉腫	Rhabdomyosarcoma
C0037274	MedGen UID:20777	Skin disorder	http://www.ncbi.nlm.nih.gov/medgen/20777	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005093	http://purl.obolibrary.org/obo/MONDO_0005093	NANDO:2100281	皮膚疾患群	Skin disease
C0042373	MedGen UID:22621	Vascular disorder	http://www.ncbi.nlm.nih.gov/medgen/22621	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005385	http://purl.obolibrary.org/obo/MONDO_0005385	NANDO:2100294	脈管系疾患	Vascular disease
C1961099	MedGen UID:368378	T-cell acute lymphoblastic leukemia	http://www.ncbi.nlm.nih.gov/medgen/368378	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004963	http://purl.obolibrary.org/obo/MONDO_0004963	NANDO:2200003	T細胞急性リンパ性白血病	T-cell lymphoblastic leukemia
C0019625	MedGen UID:9266	Sinus histiocytosis with massive lymphadenopathy	http://www.ncbi.nlm.nih.gov/medgen/9266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006412	http://purl.obolibrary.org/obo/MONDO_0006412	NANDO:2200039	ロサイ・ドルフマン病	Rosai-Dorfman disease
C0020981	MedGen UID:7025	Angioimmunoblastic T-cell lymphoma	http://www.ncbi.nlm.nih.gov/medgen/7025	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004977	http://purl.obolibrary.org/obo/MONDO_0004977	NANDO:2200029	血管免疫芽球性T細胞リンパ腫	Angioimmunoblastic T-cell lymphoma
C0021053	MedGen UID:5759	Immune system disorder	http://www.ncbi.nlm.nih.gov/medgen/5759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005046	http://purl.obolibrary.org/obo/MONDO_0005046	NANDO:2100202	免疫疾患	Immune system disease
C0021390	MedGen UID:43877	Inflammatory bowel disease	http://www.ncbi.nlm.nih.gov/medgen/43877	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005265	http://purl.obolibrary.org/obo/MONDO_0005265	NANDO:2100259	炎症性腸疾患	Inflammatory bowel disease
CN294497	MedGen UID:978369	Hodgkins lymphoma	http://www.ncbi.nlm.nih.gov/medgen/978369	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004952	http://purl.obolibrary.org/obo/MONDO_0004952	NANDO:2200024	ホジキンリンパ腫	Hodgkin lymphoma
CN377655	MedGen UID:1052483	Peripheral T-cell lymphoma, not otherwise specified	http://www.ncbi.nlm.nih.gov/medgen/1052483	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004964	http://purl.obolibrary.org/obo/MONDO_0004964	NANDO:2200028	末梢性T細胞リンパ腫-非特定型	Peripheral T-cell lymphoma, not otherwise specified
C0008497	MedGen UID:40278	Choriocarcinoma	http://www.ncbi.nlm.nih.gov/medgen/40278	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005207	http://purl.obolibrary.org/obo/MONDO_0005207	NANDO:2200070	絨毛癌	Choriocarcinoma
C0205969	MedGen UID:60049	Thymic carcinoma	http://www.ncbi.nlm.nih.gov/medgen/60049	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006451	http://purl.obolibrary.org/obo/MONDO_0006451	NANDO:2200079	悪性胸腺腫	Malignant thymoma
C0206651	MedGen UID:104909	Clear cell sarcoma	http://www.ncbi.nlm.nih.gov/medgen/104909	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002926	http://purl.obolibrary.org/obo/MONDO_0002926	NANDO:2200062	明細胞肉腫	Clear cell sarcoma
C0206659	MedGen UID:61653	Embryonal carcinoma	http://www.ncbi.nlm.nih.gov/medgen/61653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005440	http://purl.obolibrary.org/obo/MONDO_0005440	NANDO:2200067	胎児性癌	Embryonal carcinoma
C0206686	MedGen UID:104917	Adrenal cortex carcinoma	http://www.ncbi.nlm.nih.gov/medgen/104917	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006639	http://purl.obolibrary.org/obo/MONDO_0006639	NANDO:2200073	副腎皮質癌	Adrenocortical carcinoma
C0206724	MedGen UID:104926	Sex cord-stromal tumor	http://www.ncbi.nlm.nih.gov/medgen/104926	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006055	http://purl.obolibrary.org/obo/MONDO_0006055	NANDO:2200072	性索間質性腫瘍	Sex-cord stromal tumour
C0206743	MedGen UID:64646	Rhabdoid tumor	http://www.ncbi.nlm.nih.gov/medgen/64646	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002728	http://purl.obolibrary.org/obo/MONDO_0002728	NANDO:2200057	悪性ラブドイド腫瘍	Malignant rhabdoid tumour
C0023269	MedGen UID:9711	Leiomyosarcoma	http://www.ncbi.nlm.nih.gov/medgen/9711	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005058	http://purl.obolibrary.org/obo/MONDO_0005058	NANDO:2200064	平滑筋肉腫	Leiomyosarcoma
C0023827	MedGen UID:44177	Liposarcoma	http://www.ncbi.nlm.nih.gov/medgen/44177	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005060	http://purl.obolibrary.org/obo/MONDO_0005060	NANDO:2200065	脂肪肉腫	Liposarcoma
C0025202	MedGen UID:9944	Melanoma	http://www.ncbi.nlm.nih.gov/medgen/9944	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005105	http://purl.obolibrary.org/obo/MONDO_0005105	NANDO:2200077	悪性黒色腫	Malignant melanoma
C4551683	MedGen UID:1636437	Adrenal pheochromocytoma	http://www.ncbi.nlm.nih.gov/medgen/1636437	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004974	http://purl.obolibrary.org/obo/MONDO_0004974	NANDO:2200078	褐色細胞腫	Pheochromocytoma
C0013377	MedGen UID:41680	Dysgerminoma	http://www.ncbi.nlm.nih.gov/medgen/41680	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003002	http://purl.obolibrary.org/obo/MONDO_0003002	NANDO:2200066	未分化胚細胞腫	Dysgerminoma
C0014145	MedGen UID:41782	Yolk sac tumor	http://www.ncbi.nlm.nih.gov/medgen/41782	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005744	http://purl.obolibrary.org/obo/MONDO_0005744	NANDO:2200069	卵黄嚢腫	Yolk sac tumour
C0016057	MedGen UID:5178	Fibrosarcoma	http://www.ncbi.nlm.nih.gov/medgen/5178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005164	http://purl.obolibrary.org/obo/MONDO_0005164	NANDO:2200060	線維肉腫	Fibrosarcoma
C0855073	MedGen UID:163512	Undifferentiated (embryonal) sarcoma	http://www.ncbi.nlm.nih.gov/medgen/163512	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005102	http://purl.obolibrary.org/obo/MONDO_0005102	NANDO:2200058	未分化肉腫	Undifferentiated sarcoma
C0268374	MedGen UID:82798	Junctional epidermolysis bullosa, non-Herlitz type	http://www.ncbi.nlm.nih.gov/medgen/82798	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009180	http://purl.obolibrary.org/obo/MONDO_0009180	NANDO:1201066	接合部型表皮水疱症（非ヘルリッツ型）	Non-Herlitz junctional epidermolysis bullosa
C0393929	MedGen UID:140751	Familial infantile myasthenia	http://www.ncbi.nlm.nih.gov/medgen/140751	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009689	http://purl.obolibrary.org/obo/MONDO_0009689	NANDO:1201057	発作性無呼吸を伴う先天性筋無力症	Congenital myasthenic syndrome with episodic apnoea
C1856061	MedGen UID:343470	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	http://www.ncbi.nlm.nih.gov/medgen/343470	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009353	http://purl.obolibrary.org/obo/MONDO_0009353	NANDO:1201041	ホモシスチン尿症III型	Homocystinuria type 3
C0079683	MedGen UID:36328	Junctional epidermolysis bullosa gravis of Herlitz	http://www.ncbi.nlm.nih.gov/medgen/36328	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009182	http://purl.obolibrary.org/obo/MONDO_0009182	NANDO:1201065	接合部型表皮水疱症（ヘルリッツ型）	Herlitz junctional epidermolysis bullosa
C0342727	MedGen UID:90994	3-methylglutaconic aciduria type 1	http://www.ncbi.nlm.nih.gov/medgen/90994	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009610	http://purl.obolibrary.org/obo/MONDO_0009610	NANDO:1200990	メチルグルタコン酸尿症I型	3-methylglutaconic aciduria type I
C4303789	MedGen UID:929458	Ehlers-Danlos syndrome, cardiac valvular type	http://www.ncbi.nlm.nih.gov/medgen/929458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009159	http://purl.obolibrary.org/obo/MONDO_0009159	NANDO:1201086	心臓弁型エーラス・ダンロス症候群	Cardiac-valvular Ehlers-Danlos syndrome
C0265219	MedGen UID:78538	Miller Dieker syndrome	http://www.ncbi.nlm.nih.gov/medgen/78538	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009532	http://purl.obolibrary.org/obo/MONDO_0009532	NANDO:1201083	ミラー・ディカー症候群	Miller Dieker syndrome
C0265308	MedGen UID:120532	Baller-Gerold syndrome	http://www.ncbi.nlm.nih.gov/medgen/120532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009039	http://purl.obolibrary.org/obo/MONDO_0009039	NANDO:1201059	バレー・ジェロルド症候群	Baller-Gerold syndrome
C0751202	MedGen UID:199606	Classic homocystinuria	http://www.ncbi.nlm.nih.gov/medgen/199606	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009352	http://purl.obolibrary.org/obo/MONDO_0009352	NANDO:1201039	ホモシスチン尿症I型	Homocystinuria type 1
CN263128	MedGen UID:946156	Brittle cornea syndrome	http://www.ncbi.nlm.nih.gov/medgen/946156	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009242	http://purl.obolibrary.org/obo/MONDO_0009242	NANDO:1201087	脆弱角膜症候群	Brittle cornea syndrome
C0001126	MedGen UID:90	Renal tubular acidosis	http://www.ncbi.nlm.nih.gov/medgen/90	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001909	http://purl.obolibrary.org/obo/MONDO_0001909	NANDO:2200144	尿細管性アシドーシス	Renal tubular acidosis
C0006264	MedGen UID:2735	Bronchial neoplasm	http://www.ncbi.nlm.nih.gov/medgen/2735	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002807	http://purl.obolibrary.org/obo/MONDO_0002807	NANDO:2200081	気管支腫瘍	Bronchial tumour
C0006267	MedGen UID:14234	Bronchiectasis	http://www.ncbi.nlm.nih.gov/medgen/14234	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004822	http://purl.obolibrary.org/obo/MONDO_0004822	NANDO:2200206	気管支拡張症	Bronchiectasis
C0008487	MedGen UID:40277	Chordoma	http://www.ncbi.nlm.nih.gov/medgen/40277	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008978	http://purl.obolibrary.org/obo/MONDO_0008978	NANDO:2200098	脊索腫	Chordoma
C0010674	MedGen UID:41393	Cystic fibrosis	http://www.ncbi.nlm.nih.gov/medgen/41393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009061	http://purl.obolibrary.org/obo/MONDO_0009061	NANDO:2200205	嚢胞性線維症	Cystic fibrosis
C0155700	MedGen UID:102340	Mobitz II atrioventricular block	http://www.ncbi.nlm.nih.gov/medgen/102340	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001261	http://purl.obolibrary.org/obo/MONDO_0001261	NANDO:2200213	モビッツ2型ブロック	Mobitz type II second degree atrioventricular block
C0178426	MedGen UID:472617	Potter sequence	http://www.ncbi.nlm.nih.gov/medgen/472617	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001558	http://purl.obolibrary.org/obo/MONDO_0001558	NANDO:2200157	ポッター症候群	Potter syndrome
C0178879	MedGen UID:64247	Urinary tract obstruction	http://www.ncbi.nlm.nih.gov/medgen/64247	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003330	http://purl.obolibrary.org/obo/MONDO_0003330	NANDO:2200178	閉塞性尿路疾患	Obstructive uropathy
C0221238	MedGen UID:66364	Mesangial proliferative glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/66364	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003139	http://purl.obolibrary.org/obo/MONDO_0003139	NANDO:2200122	メサンギウム増殖性糸球体腎炎	Mesangial proliferative glomerulonephritis
C2350236	MedGen UID:389939	Idiopathic interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/389939	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002429	http://purl.obolibrary.org/obo/MONDO_0002429	NANDO:2200199	特発性間質性肺炎	Idiopathic interstitial pneumonia
C0024143	MedGen UID:6147	Lupus nephritis	http://www.ncbi.nlm.nih.gov/medgen/6147	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005556	http://purl.obolibrary.org/obo/MONDO_0005556	NANDO:2200128	ループス腎炎	Lupus nephritis
C0025149	MedGen UID:7517	Medulloblastoma	http://www.ncbi.nlm.nih.gov/medgen/7517	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007959	http://purl.obolibrary.org/obo/MONDO_0007959	NANDO:2200090	髄芽腫	Medulloblastoma
C0027341	MedGen UID:10257	Nail-patella syndrome	http://www.ncbi.nlm.nih.gov/medgen/10257	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008061	http://purl.obolibrary.org/obo/MONDO_0008061	NANDO:2200132	ネイル・パテラ症候群	Nail-patella syndrome
C0027721	MedGen UID:10307	Lipoid nephrosis	http://www.ncbi.nlm.nih.gov/medgen/10307	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006835	http://purl.obolibrary.org/obo/MONDO_0006835	NANDO:2200112	微小変化型ネフローゼ症候群	Minimal change nephrotic syndrome
C0027809	MedGen UID:45053	Schwannoma	http://www.ncbi.nlm.nih.gov/medgen/45053	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002546	http://purl.obolibrary.org/obo/MONDO_0002546	NANDO:2200103	神経鞘腫	Neurinoma
C0266316	MedGen UID:78594	Congenital hydronephrosis	http://www.ncbi.nlm.nih.gov/medgen/78594	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007741	http://purl.obolibrary.org/obo/MONDO_0007741	NANDO:2200176	先天性水腎症	Ureteropelvic junction obstruction
C0268113	MedGen UID:75651	Familial juvenile gout	http://www.ncbi.nlm.nih.gov/medgen/75651	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000608	http://purl.obolibrary.org/obo/MONDO_0000608	NANDO:2200139	家族性若年性高尿酸血症性腎症	Familial juvenile hyperuricemic nephropathy
C0403529	MedGen UID:140788	Anti-glomerular basement membrane disease	http://www.ncbi.nlm.nih.gov/medgen/140788	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009303	http://purl.obolibrary.org/obo/MONDO_0009303	NANDO:2200125	抗糸球体基底膜腎炎	Goodpasture syndrome
C0950121	MedGen UID:181980	Drash syndrome	http://www.ncbi.nlm.nih.gov/medgen/181980	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008682	http://purl.obolibrary.org/obo/MONDO_0008682	NANDO:2200116	Denys-Drash症候群	Denys-Drash syndrome
C0085413	MedGen UID:88404	Autosomal dominant polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/88404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004691	http://purl.obolibrary.org/obo/MONDO_0004691	NANDO:2200153	常染色体優性多発性嚢胞腎	Autosomal dominant polycystic kidney disease
C0085697	MedGen UID:39090	Chronic pyelonephritis	http://www.ncbi.nlm.nih.gov/medgen/39090	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001110	http://purl.obolibrary.org/obo/MONDO_0001110	NANDO:2200137	慢性腎盂腎炎	Chronic pyelonephritis
C0151517	MedGen UID:56230	Third degree atrioventricular block	http://www.ncbi.nlm.nih.gov/medgen/56230	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000468	http://purl.obolibrary.org/obo/MONDO_0000468	NANDO:2200214	完全房室ブロック	Complete atrio-ventricular block
C0334523	MedGen UID:87256	Teratoma with malignant transformation	http://www.ncbi.nlm.nih.gov/medgen/87256	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006444	http://purl.obolibrary.org/obo/MONDO_0006444	NANDO:2200107	悪性転化を伴う奇形腫	Teratoma with malignant transformation
C1368910	MedGen UID:277967	Mature teratoma	http://www.ncbi.nlm.nih.gov/medgen/277967	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003517	http://purl.obolibrary.org/obo/MONDO_0003517	NANDO:2200105	成熟奇形腫	Mature teratoma
C1377598	MedGen UID:277987	Childhood germ cell brain tumor	http://www.ncbi.nlm.nih.gov/medgen/277987	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004218	http://purl.obolibrary.org/obo/MONDO_0004218	NANDO:2200108	頭蓋内胚細胞腫瘍	Intracranial germ cell tumour
C3887499	MedGen UID:854361	Renal cyst	http://www.ncbi.nlm.nih.gov/medgen/854361	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002473	http://purl.obolibrary.org/obo/MONDO_0002473	NANDO:2200172	単純性腎嚢胞	Simple renal cyst
C3887678	MedGen UID:854517	Central primitive neuroectodermal tumor	http://www.ncbi.nlm.nih.gov/medgen/854517	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000640	http://purl.obolibrary.org/obo/MONDO_0000640	NANDO:2200099	未分化神経外胚葉性腫瘍（中枢性のものに限る。）	Primitive neuroectodermal tumour of the central nervous system
C3888104	MedGen UID:854773	Fibronectin glomerulopathy	http://www.ncbi.nlm.nih.gov/medgen/854773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007671	http://purl.obolibrary.org/obo/MONDO_0007671	NANDO:2200133	フィブロネクチン腎症	Glomerulopathy with fibronectin deposits, fibronectin nephropathy
C0032000	MedGen UID:45933	Pituitary adenoma	http://www.ncbi.nlm.nih.gov/medgen/45933	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006373	http://purl.obolibrary.org/obo/MONDO_0006373	NANDO:2200095	下垂体腺腫	Pituitary adenoma
C0033770	MedGen UID:18718	Prune belly syndrome	http://www.ncbi.nlm.nih.gov/medgen/18718	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007032	http://purl.obolibrary.org/obo/MONDO_0007032	NANDO:2200185	Prune belly症候群	Prune belly syndrome
C0037052	MedGen UID:20749	Sick sinus syndrome	http://www.ncbi.nlm.nih.gov/medgen/20749	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001823	http://purl.obolibrary.org/obo/MONDO_0001823	NANDO:2200212	洞不全症候群	Sick sinus syndrome
C0040583	MedGen UID:21227	Tracheal stenosis	http://www.ncbi.nlm.nih.gov/medgen/21227	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002568	http://purl.obolibrary.org/obo/MONDO_0002568	NANDO:2200194	気管狭窄	Tracheal stenosis
C0041349	MedGen UID:11952	Interstitial nephritis	http://www.ncbi.nlm.nih.gov/medgen/11952	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001085	http://purl.obolibrary.org/obo/MONDO_0001085	NANDO:2200136	慢性尿細管間質性腎炎	Tubulointerstitial nephritis
C0041960	MedGen UID:21778	Ureterocele	http://www.ncbi.nlm.nih.gov/medgen/21778	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008628	http://purl.obolibrary.org/obo/MONDO_0008628	NANDO:2200183	尿管瘤	Ureteroceles
C0042580	MedGen UID:21852	Vesicoureteral reflux	http://www.ncbi.nlm.nih.gov/medgen/21852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006007	http://purl.obolibrary.org/obo/MONDO_0006007	NANDO:2200179	膀胱尿管逆流	Vesicoureteral reflux
C0015624	MedGen UID:4653	Fanconi syndrome	http://www.ncbi.nlm.nih.gov/medgen/4653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001083	http://purl.obolibrary.org/obo/MONDO_0001083	NANDO:2200187	ファンコーニ症候群	Fanconi syndrome
C0017661	MedGen UID:9032	IgA glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/9032	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005342	http://purl.obolibrary.org/obo/MONDO_0005342	NANDO:2200121	IgA腎症	IgA nephropathy
C0017662	MedGen UID:9033	Mesangiocapillary glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/9033	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002461	http://purl.obolibrary.org/obo/MONDO_0002461	NANDO:2200123	膜性増殖性糸球体腎炎	Membranoproliferative glomerulonephritis
C0017665	MedGen UID:42231	Membranous nephropathy	http://www.ncbi.nlm.nih.gov/medgen/42231	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005376	http://purl.obolibrary.org/obo/MONDO_0005376	NANDO:2200114	膜性腎症	Membranous nephropathy
C0020545	MedGen UID:43786	Renovascular hypertension	http://www.ncbi.nlm.nih.gov/medgen/43786	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006947	http://purl.obolibrary.org/obo/MONDO_0006947	NANDO:2200141	腎血管性高血圧	Renovascular hypertension
C0020807	MedGen UID:9403	Idiopathic pulmonary hemosiderosis	http://www.ncbi.nlm.nih.gov/medgen/9403	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008346	http://purl.obolibrary.org/obo/MONDO_0008346	NANDO:2200207	特発性肺ヘモジデローシス	Idiopathic pulmonary hemosiderosis
C0235833	MedGen UID:68625	Congenital diaphragmatic hernia	http://www.ncbi.nlm.nih.gov/medgen/68625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005711	http://purl.obolibrary.org/obo/MONDO_0005711	NANDO:2200210	先天性横隔膜ヘルニア	Congenital diaphragmatic hernia
C1332895	MedGen UID:234105	Central nervous system teratoma	http://www.ncbi.nlm.nih.gov/medgen/234105	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002718	http://purl.obolibrary.org/obo/MONDO_0002718	NANDO:2200104	奇形腫	Teratoma of the central nervous system
CN327126	MedGen UID:1008296	Inherited focal segmental glomerulosclerosis	http://www.ncbi.nlm.nih.gov/medgen/1008296	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005363	http://purl.obolibrary.org/obo/MONDO_0005363	NANDO:2200113	巣状分節性糸球体硬化症	Focal segmental glomerulosclerosis
C1735886	MedGen UID:760471	Anomalous origin of left coronary artery from the pulmonary artery	http://www.ncbi.nlm.nih.gov/medgen/760471	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000811	http://purl.obolibrary.org/obo/MONDO_0000811	NANDO:2200242	左冠動脈肺動脈起始症	Abnormal origin of left coronary artery from pulmonary artery
C0003486	MedGen UID:362	Aortic aneurysm	http://www.ncbi.nlm.nih.gov/medgen/362	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005160	http://purl.obolibrary.org/obo/MONDO_0005160	NANDO:2200294	大動脈瘤	Aortic aneurysm
C0003492	MedGen UID:1617	Coarctation of aorta	http://www.ncbi.nlm.nih.gov/medgen/1617	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007345	http://purl.obolibrary.org/obo/MONDO_0007345	NANDO:2200283	大動脈縮窄症	Coarctation of the aorta
C0003499	MedGen UID:2001	Supravalvar aortic stenosis	http://www.ncbi.nlm.nih.gov/medgen/2001	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008504	http://purl.obolibrary.org/obo/MONDO_0008504	NANDO:2200285	大動脈弁上狭窄症	Supravalvular aortic stenosis
C0003504	MedGen UID:8153	Aortic regurgitation	http://www.ncbi.nlm.nih.gov/medgen/8153	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005648	http://purl.obolibrary.org/obo/MONDO_0005648	NANDO:2200307	大動脈弁閉鎖不全症	Aortic valve regurgitation
C0004238	MedGen UID:445	Atrial fibrillation	http://www.ncbi.nlm.nih.gov/medgen/445	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004981	http://purl.obolibrary.org/obo/MONDO_0004981	NANDO:2200226	心房細動	Atrial fibrillation
C0004239	MedGen UID:13955	Atrial flutter	http://www.ncbi.nlm.nih.gov/medgen/13955	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005310	http://purl.obolibrary.org/obo/MONDO_0005310	NANDO:2200225	心房粗動	Atrial flutter
C0007193	MedGen UID:2880	Primary dilated cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/2880	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005021	http://purl.obolibrary.org/obo/MONDO_0005021	NANDO:2200232	拡張型心筋症	Dilated cardiomyopathy
C0007194	MedGen UID:2881	Hypertrophic cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/2881	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005045	http://purl.obolibrary.org/obo/MONDO_0005045	NANDO:2200229	肥大型心筋症	Hypertrophic cardiomyopathy
C0007196	MedGen UID:40111	Restrictive cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/40111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005201	http://purl.obolibrary.org/obo/MONDO_0005201	NANDO:2200233	拘束型心筋症	Restrictive cardiomyopathy
C0158619	MedGen UID:510600	Congenital mitral valve insufficiency	http://www.ncbi.nlm.nih.gov/medgen/510600	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001298	http://purl.obolibrary.org/obo/MONDO_0001298	NANDO:2200303	僧帽弁閉鎖不全症	Mitral regurgitation
C0175702	MedGen UID:59799	Williams syndrome	http://www.ncbi.nlm.nih.gov/medgen/59799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008678	http://purl.obolibrary.org/obo/MONDO_0008678	NANDO:2200286	ウィリアムズ症候群	Williams syndrome
C0023976	MedGen UID:44193	Long QT syndrome	http://www.ncbi.nlm.nih.gov/medgen/44193	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002442	http://purl.obolibrary.org/obo/MONDO_0002442	NANDO:2200228	QT延長症候群	Long qt syndrome
C0026269	MedGen UID:44466	Mitral stenosis	http://www.ncbi.nlm.nih.gov/medgen/44466	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005852	http://purl.obolibrary.org/obo/MONDO_0005852	NANDO:2200302	僧帽弁狭窄症	Mitral valve stenosis
C0027051	MedGen UID:10150	Myocardial infarction	http://www.ncbi.nlm.nih.gov/medgen/10150	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005068	http://purl.obolibrary.org/obo/MONDO_0005068	NANDO:2200248	心筋梗塞	Myocardial infarction
C0031048	MedGen UID:18378	Constrictive pericarditis	http://www.ncbi.nlm.nih.gov/medgen/18378	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006711	http://purl.obolibrary.org/obo/MONDO_0006711	NANDO:2200239	収縮性心膜炎	Constrictive pericarditis
C0152101	MedGen UID:57746	Hypoplastic left heart syndrome	http://www.ncbi.nlm.nih.gov/medgen/57746	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004933	http://purl.obolibrary.org/obo/MONDO_0004933	NANDO:2200249	左心低形成症候群	Hypoplastic left heart syndrome
C0152419	MedGen UID:57773	Aortic arch interruption	http://www.ncbi.nlm.nih.gov/medgen/57773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009010	http://purl.obolibrary.org/obo/MONDO_0009010	NANDO:2200288	大動脈弓離断複合	Interruption of aortic arch complex
C0340375	MedGen UID:90950	Subvalvular aortic stenosis	http://www.ncbi.nlm.nih.gov/medgen/90950	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006987	http://purl.obolibrary.org/obo/MONDO_0006987	NANDO:2200277	大動脈弁下狭窄症	Subvalvular aortic stenosis
C0344976	MedGen UID:87492	Pulmonary atresia with ventricular septal defect	http://www.ncbi.nlm.nih.gov/medgen/87492	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008343	http://purl.obolibrary.org/obo/MONDO_0008343	NANDO:2200252	心室中隔欠損を伴う肺動脈閉鎖症	Pulmonary atresia with ventricular septal defect
C4551903	MedGen UID:1648157	Congenital total pulmonary venous return anomaly	http://www.ncbi.nlm.nih.gov/medgen/1648157	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007130	http://purl.obolibrary.org/obo/MONDO_0007130	NANDO:2200271	総肺静脈還流異常症	Total anomalous pulmonary venous connection
C0034084	MedGen UID:11030	Pulmonary subvalvular stenosis	http://www.ncbi.nlm.nih.gov/medgen/11030	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006935	http://purl.obolibrary.org/obo/MONDO_0006935	NANDO:2200276	肺動脈弁下狭窄症	Subvalvular pulmonary stenosis
C0034088	MedGen UID:11031	Pulmonary valve insufficiency	http://www.ncbi.nlm.nih.gov/medgen/11031	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001927	http://purl.obolibrary.org/obo/MONDO_0001927	NANDO:2200305	肺動脈弁閉鎖不全症	Pulmonary valve regurgitation
C0034089	MedGen UID:18768	Pulmonary valve stenosis	http://www.ncbi.nlm.nih.gov/medgen/18768	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006936	http://purl.obolibrary.org/obo/MONDO_0006936	NANDO:2200304	肺動脈弁狭窄症	Pulmonary valve stenosis
C0039685	MedGen UID:21498	Tetralogy of Fallot	http://www.ncbi.nlm.nih.gov/medgen/21498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008542	http://purl.obolibrary.org/obo/MONDO_0008542	NANDO:2200254	ファロー四徴症	Tetralogy of Fallot
C0040761	MedGen UID:21245	Transposition of the great arteries	http://www.ncbi.nlm.nih.gov/medgen/21245	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000153	http://purl.obolibrary.org/obo/MONDO_0000153	NANDO:2200258	完全大血管転位症	Complete transposition of the great arteries
C0040961	MedGen UID:11911	Tricuspid regurgitation	http://www.ncbi.nlm.nih.gov/medgen/11911	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002870	http://purl.obolibrary.org/obo/MONDO_0002870	NANDO:2200301	三尖弁閉鎖不全症	Tricuspid valve regurgitation
C0040963	MedGen UID:21678	Tricuspid stenosis	http://www.ncbi.nlm.nih.gov/medgen/21678	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005997	http://purl.obolibrary.org/obo/MONDO_0005997	NANDO:2200300	三尖弁狭窄症	Tricuspid valve stenosis
C0042510	MedGen UID:21844	Ventricular fibrillation	http://www.ncbi.nlm.nih.gov/medgen/21844	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000190	http://purl.obolibrary.org/obo/MONDO_0000190	NANDO:2200227	心室細動	Ventricular fibrillation
C0043202	MedGen UID:12162	Wolff-Parkinson-White pattern	http://www.ncbi.nlm.nih.gov/medgen/12162	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008685	http://purl.obolibrary.org/obo/MONDO_0008685	NANDO:2200217	上室頻拍	Supraventricular tachycardia due to WPW syndrome
C0013481	MedGen UID:4435	Ebstein anomaly	http://www.ncbi.nlm.nih.gov/medgen/4435	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009144	http://purl.obolibrary.org/obo/MONDO_0009144	NANDO:2200260	エプスタイン病	Ebstein's anomaly
C0014117	MedGen UID:4041	Endocardial fibroelastosis	http://www.ncbi.nlm.nih.gov/medgen/4041	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009169	http://purl.obolibrary.org/obo/MONDO_0009169	NANDO:2200235	心内膜線維弾性症	Endocardial fibroelastosis
C0018213	MedGen UID:6677	Graves disease	http://www.ncbi.nlm.nih.gov/medgen/6677	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005364	http://purl.obolibrary.org/obo/MONDO_0005364	NANDO:2200328	バセドウ病	Basedow disease
C0018789	MedGen UID:42360	Heart aneurysm	http://www.ncbi.nlm.nih.gov/medgen/42360	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006779	http://purl.obolibrary.org/obo/MONDO_0006779	NANDO:2200234	心室瘤	Aneurysm of ventricle
C0018818	MedGen UID:42366	Ventricular septal defect	http://www.ncbi.nlm.nih.gov/medgen/42366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002070	http://purl.obolibrary.org/obo/MONDO_0002070	NANDO:2200270	心室中隔欠損症	Ventricular septal defect
C0020514	MedGen UID:5698	Hyperprolactinemia	http://www.ncbi.nlm.nih.gov/medgen/5698	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005804	http://purl.obolibrary.org/obo/MONDO_0005804	NANDO:2200322	高プロラクチン血症	Hyperprolactinemia
C0021141	MedGen UID:5772	Inappropriate antidiuretic hormone secretion	http://www.ncbi.nlm.nih.gov/medgen/5772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006802	http://purl.obolibrary.org/obo/MONDO_0006802	NANDO:2200323	抗利尿ホルモン不適切分泌症候群	Syndrome of inappropriate secretion of antidiuretic hormone
C0238074	MedGen UID:116042	Chronic pulmonary heart disease	http://www.ncbi.nlm.nih.gov/medgen/116042	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001493	http://purl.obolibrary.org/obo/MONDO_0001493	NANDO:2200299	慢性肺性心	Chronic cor pulmonale
C0242231	MedGen UID:66859	Coronary artery stenosis	http://www.ncbi.nlm.nih.gov/medgen/66859	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006715	http://purl.obolibrary.org/obo/MONDO_0006715	NANDO:2200246	冠動脈狭窄症	Stenosis or atresia of coronary artery
C5679572	MedGen UID:1843308	Isolated congenital growth hormone deficiency	http://www.ncbi.nlm.nih.gov/medgen/1843308	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000050	http://purl.obolibrary.org/obo/MONDO_0000050	NANDO:2200317	器質的成長ホルモン分泌不全性低身長症	Congenital growth hormone deficiency
C0011854	MedGen UID:41522	Diabetes mellitus type 1	http://www.ncbi.nlm.nih.gov/medgen/41522	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005147	http://purl.obolibrary.org/obo/MONDO_0005147	NANDO:2200460	1型糖尿病	Diabetes mellitus type 1
C0011859	MedGen UID:4256	Lipoatrophic diabetes	http://www.ncbi.nlm.nih.gov/medgen/4256	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005827	http://purl.obolibrary.org/obo/MONDO_0005827	NANDO:2200465	脂肪萎縮性糖尿病	Lipoatrophic diabetes
C0011860	MedGen UID:41523	Type 2 diabetes mellitus	http://www.ncbi.nlm.nih.gov/medgen/41523	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005148	http://purl.obolibrary.org/obo/MONDO_0005148	NANDO:2200461	2型糖尿病	Diabetes mellitus type 2
C0206667	MedGen UID:61654	Adrenocortical adenoma	http://www.ncbi.nlm.nih.gov/medgen/61654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003924	http://purl.obolibrary.org/obo/MONDO_0003924	NANDO:2200352	副腎腺腫	Adrenal adenoma
C2940786	MedGen UID:424854	Thyroid hormone resistance syndrome	http://www.ncbi.nlm.nih.gov/medgen/424854	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001328	http://purl.obolibrary.org/obo/MONDO_0001328	NANDO:2200341	甲状腺ホルモン不応症	Resistance to thyroid hormone
C0023786	MedGen UID:44171	Mucopolysaccharidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/44171	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001586	http://purl.obolibrary.org/obo/MONDO_0001586	NANDO:2200547	ムコ多糖症I型	Mucopolysaccharidosis type I
C0023787	MedGen UID:6111	Lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006573	http://purl.obolibrary.org/obo/MONDO_0006573	NANDO:2200404	脂肪萎縮症	Lipodystrophy
C0026272	MedGen UID:10069	Mixed connective tissue disease	http://www.ncbi.nlm.nih.gov/medgen/10069	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005854	http://purl.obolibrary.org/obo/MONDO_0005854	NANDO:2200430	混合性結合組織病	Mixed connective tissue disease
C0268583	MedGen UID:120654	Methylmalonic acidemia	http://www.ncbi.nlm.nih.gov/medgen/120654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002012	http://purl.obolibrary.org/obo/MONDO_0002012	NANDO:2200491	メチルマロン酸血症	Methylmalonic acidemia
C1384514	MedGen UID:278002	Primary aldosteronism	http://www.ncbi.nlm.nih.gov/medgen/278002	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001422	http://purl.obolibrary.org/obo/MONDO_0001422	NANDO:2200361	アルドステロン症	Aldosteronism
C0036421	MedGen UID:19897	Systemic sclerosis	http://www.ncbi.nlm.nih.gov/medgen/19897	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005100	http://purl.obolibrary.org/obo/MONDO_0005100	NANDO:2200429	全身性強皮症	Systemic sclerosis
C1864903	MedGen UID:351247	Hyperinsulinemic hypoglycemia	http://www.ncbi.nlm.nih.gov/medgen/351247	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005803	http://purl.obolibrary.org/obo/MONDO_0005803	NANDO:2200399	先天性高インスリン血症	Congenital hyperinsulinemia
C2919755	MedGen UID:754060	Testicular dysgenesis syndrome	http://www.ncbi.nlm.nih.gov/medgen/754060	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005437	http://purl.obolibrary.org/obo/MONDO_0005437	NANDO:2200383	精巣形成不全	Testicular dysgenesis
C0017150	MedGen UID:6551	Gastrin-producing neuroendocrine tumor	http://www.ncbi.nlm.nih.gov/medgen/6551	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003523	http://purl.obolibrary.org/obo/MONDO_0003523	NANDO:2200395	ガストリノーマ	Gastrinoma
C0017920	MedGen UID:6640	Glycogen storage disease, type I	http://www.ncbi.nlm.nih.gov/medgen/6640	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002413	http://purl.obolibrary.org/obo/MONDO_0002413	NANDO:2200538	糖原病I型	Glycogen storage disease type I
C0018055	MedGen UID:6654	Mixed gonadal dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/6654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001969	http://purl.obolibrary.org/obo/MONDO_0001969	NANDO:2200388	混合性性腺異形成症	Mixed gonadal dysgenesis
C0019880	MedGen UID:42485	Homocystinuria	http://www.ncbi.nlm.nih.gov/medgen/42485	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004737	http://purl.obolibrary.org/obo/MONDO_0004737	NANDO:2200474	ホモシスチン尿症	Homocystinuria
C0020501	MedGen UID:5697	Primary hyperoxaluria	http://www.ncbi.nlm.nih.gov/medgen/5697	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002474	http://purl.obolibrary.org/obo/MONDO_0002474	NANDO:2200503	原発性高シュウ酸尿症	Primary hyperoxaluria
C0020502	MedGen UID:6967	Hyperparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/6967	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001741	http://purl.obolibrary.org/obo/MONDO_0001741	NANDO:2200343	副甲状腺機能亢進症	Hyperparathyroidism
C0020550	MedGen UID:6972	Hyperthyroidism	http://www.ncbi.nlm.nih.gov/medgen/6972	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004425	http://purl.obolibrary.org/obo/MONDO_0004425	NANDO:2200329	甲状腺機能亢進症	Hyperthyroidism
C0020626	MedGen UID:6985	Hypoparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/6985	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001220	http://purl.obolibrary.org/obo/MONDO_0001220	NANDO:2200345	副甲状腺機能低下症	Hypoparathyroidism
C0238183	MedGen UID:536775	Atrophic thyroiditis	http://www.ncbi.nlm.nih.gov/medgen/536775	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005624	http://purl.obolibrary.org/obo/MONDO_0005624	NANDO:2200336	萎縮性甲状腺炎	Atrophic thyroiditis
C4048705	MedGen UID:887708	Hypermethioninemia	http://www.ncbi.nlm.nih.gov/medgen/887708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000351	http://purl.obolibrary.org/obo/MONDO_0000351	NANDO:2200475	高メチオニン血症	Hypermethioninemia
C0004943	MedGen UID:2568	Behcet disease	http://www.ncbi.nlm.nih.gov/medgen/2568	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007191	http://purl.obolibrary.org/obo/MONDO_0007191	NANDO:2200422	ベーチェット病	Behcet's disease
C0008029	MedGen UID:40219	Fibrous dysplasia of jaw	http://www.ncbi.nlm.nih.gov/medgen/40219	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007315	http://purl.obolibrary.org/obo/MONDO_0007315	NANDO:2200444	ケルビズム	Cherubism
C0221043	MedGen UID:67439	Liddle syndrome	http://www.ncbi.nlm.nih.gov/medgen/67439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008323	http://purl.obolibrary.org/obo/MONDO_0008323	NANDO:2200363	リドル症候群	Liddle syndrome
C0221406	MedGen UID:66381	Pituitary dependent hypercortisolism	http://www.ncbi.nlm.nih.gov/medgen/66381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009050	http://purl.obolibrary.org/obo/MONDO_0009050	NANDO:2200350	クッシング病	Cushing disease
C2062388	MedGen UID:923388	Cushing syndrome due to macronodular adrenal hyperplasia	http://www.ncbi.nlm.nih.gov/medgen/923388	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009049	http://purl.obolibrary.org/obo/MONDO_0009049	NANDO:2200353	副腎皮質結節性過形成	ACTH-independent macronodular adrenal hyperplasia
C2936858	MedGen UID:424833	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/424833	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008728	http://purl.obolibrary.org/obo/MONDO_0008728	NANDO:2200374	21-水酸化酵素欠損症	21-Hydroxylase deficiency
C0022735	MedGen UID:44033	Klinefelter syndrome	http://www.ncbi.nlm.nih.gov/medgen/44033	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006823	http://purl.obolibrary.org/obo/MONDO_0006823	NANDO:2200386	Klinefelter症候群	Klinefelter syndrome
C0024141	MedGen UID:6146	Systemic lupus erythematosus	http://www.ncbi.nlm.nih.gov/medgen/6146	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007915	http://purl.obolibrary.org/obo/MONDO_0007915	NANDO:2200416	全身性エリテマトーデス	Systemic lupus erythematosus
C0025267	MedGen UID:9957	Multiple endocrine neoplasia, type 1	http://www.ncbi.nlm.nih.gov/medgen/9957	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007540	http://purl.obolibrary.org/obo/MONDO_0007540	NANDO:2200405	多発性内分泌腫瘍1型	Multiple endocrine neoplasia type 1
C0268285	MedGen UID:82782	Deficiency of steroid 17-alpha-monooxygenase	http://www.ncbi.nlm.nih.gov/medgen/82782	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008730	http://purl.obolibrary.org/obo/MONDO_0008730	NANDO:2200373	17α-水酸化酵素欠損症	17 alpha-hydroxylase deficiency
C0268292	MedGen UID:82783	Deficiency of steroid 11-beta-monooxygenase	http://www.ncbi.nlm.nih.gov/medgen/82783	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008729	http://purl.obolibrary.org/obo/MONDO_0008729	NANDO:2200372	11β-水酸化酵素欠損症	11-β-Hydroxylase deficiency
C0268532	MedGen UID:120647	Prolidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/120647	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008221	http://purl.obolibrary.org/obo/MONDO_0008221	NANDO:2200472	プロリダーゼ欠損症	Prolidase deficiency
C0268543	MedGen UID:120649	Hyperammonemia, type III	http://www.ncbi.nlm.nih.gov/medgen/120649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009377	http://purl.obolibrary.org/obo/MONDO_0009377	NANDO:2200477	N-アセチルグルタミン酸合成酵素欠損症	N-acetylglutamate synthetase deficiency
C0268547	MedGen UID:78687	Argininosuccinate lyase deficiency	http://www.ncbi.nlm.nih.gov/medgen/78687	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008815	http://purl.obolibrary.org/obo/MONDO_0008815	NANDO:2200481	アルギニノコハク酸尿症	Argininosuccinic aciduria
C1275126	MedGen UID:226899	TNF receptor-associated periodic fever syndrome (TRAPS)	http://www.ncbi.nlm.nih.gov/medgen/226899	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007727	http://purl.obolibrary.org/obo/MONDO_0007727	NANDO:2200433	TNF受容体関連周期性症候群	TNF receptor-associated periodic fever syndrome
C4082171	MedGen UID:907954	Congenital hyperammonemia, type I	http://www.ncbi.nlm.nih.gov/medgen/907954	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009376	http://purl.obolibrary.org/obo/MONDO_0009376	NANDO:2200478	カルバミルリン酸合成酵素欠損症	Carbamoylphosphate synthetase deficiency
C4721769	MedGen UID:1648491	Citrullinemia type I	http://www.ncbi.nlm.nih.gov/medgen/1648491	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008988	http://purl.obolibrary.org/obo/MONDO_0008988	NANDO:2200480	アルギニノコハク酸合成酵素欠損症	Argininosuccinate synthetase deficiency
C5201146	MedGen UID:1684759	Blau syndrome	http://www.ncbi.nlm.nih.gov/medgen/1684759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008523	http://purl.obolibrary.org/obo/MONDO_0008523	NANDO:2200434	ブラウ症候群	Blau syndrome, early onset sarcoidosis
C0342471	MedGen UID:452446	3 beta-Hydroxysteroid dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/452446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008727	http://purl.obolibrary.org/obo/MONDO_0008727	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
C0342488	MedGen UID:90983	Apparent mineralocorticoid excess	http://www.ncbi.nlm.nih.gov/medgen/90983	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009025	http://purl.obolibrary.org/obo/MONDO_0009025	NANDO:2200362	見かけの鉱質コルチコイド過剰症候群	Apparent mineralocorticoid excess syndrome
C0677607	MedGen UID:151769	Hashimoto thyroiditis	http://www.ncbi.nlm.nih.gov/medgen/151769	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007699	http://purl.obolibrary.org/obo/MONDO_0007699	NANDO:2200335	橋本病	Hashimoto disease
C0685837	MedGen UID:146899	46 XX gonadal dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/146899	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009299	http://purl.obolibrary.org/obo/MONDO_0009299	NANDO:2200384	卵巣形成不全	Ovarian dysgenesis
C0032460	MedGen UID:10836	Polycystic ovaries	http://www.ncbi.nlm.nih.gov/medgen/10836	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008487	http://purl.obolibrary.org/obo/MONDO_0008487	NANDO:2200409	多嚢胞性卵巣症候群	Polycystic ovary syndrome
C0032897	MedGen UID:46057	Prader-Willi syndrome	http://www.ncbi.nlm.nih.gov/medgen/46057	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008300	http://purl.obolibrary.org/obo/MONDO_0008300	NANDO:2200411	プラダー・ウィリ症候群	Prader-Willi syndrome
C0263666	MedGen UID:120486	Childhood type dermatomyositis	http://www.ncbi.nlm.nih.gov/medgen/120486	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008054	http://purl.obolibrary.org/obo/MONDO_0008054	NANDO:2200418	若年性皮膚筋炎	Juvenile dermatomyositis
C0002066	MedGen UID:1413	Alkaptonuria	http://www.ncbi.nlm.nih.gov/medgen/1413	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008753	http://purl.obolibrary.org/obo/MONDO_0008753	NANDO:2200504	アルカプトン尿症	Alkaptonuria
C0010691	MedGen UID:8226	Cystinuria	http://www.ncbi.nlm.nih.gov/medgen/8226	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009067	http://purl.obolibrary.org/obo/MONDO_0009067	NANDO:2200489	シスチン尿症	Cystinuria
C0220710	MedGen UID:65086	Medium-chain acyl-coenzyme A dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/65086	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008721	http://purl.obolibrary.org/obo/MONDO_0008721	NANDO:2200513	中鎖アシルCoA脱水素酵素欠損症	Medium-chain acyl-CoA dehydrogenase deficiency
C0268151	MedGen UID:82777	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/medgen/82777	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009258	http://purl.obolibrary.org/obo/MONDO_0009258	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
C0268155	MedGen UID:120614	Deficiency of galactokinase	http://www.ncbi.nlm.nih.gov/medgen/120614	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009255	http://purl.obolibrary.org/obo/MONDO_0009255	NANDO:2200533	ガラクトキナーゼ欠損症	Galactokinase deficiency
C0268548	MedGen UID:78688	Arginase deficiency	http://www.ncbi.nlm.nih.gov/medgen/78688	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008814	http://purl.obolibrary.org/obo/MONDO_0008814	NANDO:2200482	高アルギニン血症	Hyperargininemia
C0268595	MedGen UID:124337	Glutaric aciduria, type 1	http://www.ncbi.nlm.nih.gov/medgen/124337	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009281	http://purl.obolibrary.org/obo/MONDO_0009281	NANDO:2200501	グルタル酸血症1型	Glutaric acidemia type 1
C0268596	MedGen UID:75696	Multiple acyl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75696	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009282	http://purl.obolibrary.org/obo/MONDO_0009282	NANDO:2200502	グルタル酸血症2型	Glutaric acidemia type 2
C0268647	MedGen UID:75704	Lysinuric protein intolerance	http://www.ncbi.nlm.nih.gov/medgen/75704	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009109	http://purl.obolibrary.org/obo/MONDO_0009109	NANDO:2200488	リジン尿性蛋白不耐症	Lysinuric protein intolerance
C0342783	MedGen UID:90998	Deficiency of butyryl-CoA dehydrogenase	http://www.ncbi.nlm.nih.gov/medgen/90998	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008722	http://purl.obolibrary.org/obo/MONDO_0008722	NANDO:2200514	短鎖アシルCoA脱水素酵素欠損症	Short-chain acyl-CoA dehydrogenase deficiency
C0342788	MedGen UID:90999	Renal carnitine transport defect	http://www.ncbi.nlm.nih.gov/medgen/90999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008919	http://purl.obolibrary.org/obo/MONDO_0008919	NANDO:2200508	全身性カルニチン欠損症	Organic cation transporter 2 deficiency
C0342791	MedGen UID:91000	Carnitine acylcarnitine translocase deficiency	http://www.ncbi.nlm.nih.gov/medgen/91000	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008918	http://purl.obolibrary.org/obo/MONDO_0008918	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
C3887523	MedGen UID:854382	Very long chain acyl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/854382	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008723	http://purl.obolibrary.org/obo/MONDO_0008723	NANDO:2200512	極長鎖アシルCoA脱水素酵素欠損症	Very-long-chain acyl-CoA dehydrogenase deficiency
C0016751	MedGen UID:42105	Hereditary fructosuria	http://www.ncbi.nlm.nih.gov/medgen/42105	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009249	http://purl.obolibrary.org/obo/MONDO_0009249	NANDO:2200531	遺伝性フルクトース不耐症	Hereditary fructose intolerance
C0016756	MedGen UID:42106	Fructose-biphosphatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/42106	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009251	http://purl.obolibrary.org/obo/MONDO_0009251	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
C0017922	MedGen UID:6641	Glycogen storage disease type III	http://www.ncbi.nlm.nih.gov/medgen/6641	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	NANDO:2200539	糖原病III型	Glycogen storage disease type III
C0017923	MedGen UID:6642	Glycogen storage disease, type IV	http://www.ncbi.nlm.nih.gov/medgen/6642	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009292	http://purl.obolibrary.org/obo/MONDO_0009292	NANDO:2200540	糖原病IV型	Glycogen storage disease type IV
C0017924	MedGen UID:5341	Glycogen storage disease, type V	http://www.ncbi.nlm.nih.gov/medgen/5341	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009293	http://purl.obolibrary.org/obo/MONDO_0009293	NANDO:2200541	糖原病V型	Glycogen storage disease type V
C0017925	MedGen UID:6643	Glycogen storage disease, type VI	http://www.ncbi.nlm.nih.gov/medgen/6643	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009294	http://purl.obolibrary.org/obo/MONDO_0009294	NANDO:2200542	糖原病VI型	Glycogen storage disease type VI
C0018609	MedGen UID:6723	Neutral 1 amino acid transport defect	http://www.ncbi.nlm.nih.gov/medgen/6723	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009324	http://purl.obolibrary.org/obo/MONDO_0009324	NANDO:2200487	ハートナップ病	Hartnup disease
C0751161	MedGen UID:199598	UDPglucose-4-epimerase deficiency	http://www.ncbi.nlm.nih.gov/medgen/199598	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009257	http://purl.obolibrary.org/obo/MONDO_0009257	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
C1536500	MedGen UID:280689	Deficiency of acetyl-CoA acetyltransferase	http://www.ncbi.nlm.nih.gov/medgen/280689	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008760	http://purl.obolibrary.org/obo/MONDO_0008760	NANDO:2200493	β-ケトチオラーゼ欠損症	Beta-ketothiolase deficiency
C0017926	MedGen UID:5342	Glycogen storage disease, type VII	http://www.ncbi.nlm.nih.gov/medgen/5342	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009295	http://purl.obolibrary.org/obo/MONDO_0009295	NANDO:2200543	糖原病VII型	Glycogen storage disease type VII
C0024776	MedGen UID:6217	Maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/6217	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009563	http://purl.obolibrary.org/obo/MONDO_0009563	NANDO:2200473	メープルシロップ尿症	Maple syrup urine disease
C0026709	MedGen UID:44514	Mucopolysaccharidosis type 6	http://www.ncbi.nlm.nih.gov/medgen/44514	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	NANDO:2200551	ムコ多糖症VI型	Mucopolysaccharidosis type VI
C0268540	MedGen UID:82815	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	http://www.ncbi.nlm.nih.gov/medgen/82815	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009393	http://purl.obolibrary.org/obo/MONDO_0009393	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
C0268575	MedGen UID:82822	Isovaleryl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/82822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009475	http://purl.obolibrary.org/obo/MONDO_0009475	NANDO:2200494	イソ吉草酸血症	Isovaleric acidemia
C0268601	MedGen UID:78692	Deficiency of hydroxymethylglutaryl-CoA lyase	http://www.ncbi.nlm.nih.gov/medgen/78692	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009520	http://purl.obolibrary.org/obo/MONDO_0009520	NANDO:2200497	3-ヒドロキシ-3-メチルグルタル酸血症	3-hydroxy-3-methylglutaric acidemia
C0342792	MedGen UID:137979	Succinyl-CoA acetoacetate transferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/137979	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009492	http://purl.obolibrary.org/obo/MONDO_0009492	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
C0000744	MedGen UID:1253	Abetalipoproteinaemia	http://www.ncbi.nlm.nih.gov/medgen/1253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008692	http://purl.obolibrary.org/obo/MONDO_0008692	NANDO:2200604	無βリポタンパク血症	Abetalipoproteinemia
C0001193	MedGen UID:7858	Acrocephalosyndactyly type I	http://www.ncbi.nlm.nih.gov/medgen/7858	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007041	http://purl.obolibrary.org/obo/MONDO_0007041	NANDO:2200844	アペール症候群	Apert syndrome
C0002878	MedGen UID:1916	Hemolytic anemia	http://www.ncbi.nlm.nih.gov/medgen/1916	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003664	http://purl.obolibrary.org/obo/MONDO_0003664	NANDO:2200636	溶血性貧血（脾機能亢進症によるものに限る。）	Hemolytic anemia
C0002888	MedGen UID:1527	Megaloblastic anemia	http://www.ncbi.nlm.nih.gov/medgen/1527	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001700	http://purl.obolibrary.org/obo/MONDO_0001700	NANDO:2200612	巨赤芽球性貧血	Megaloblastic anemia
C0004779	MedGen UID:2554	Gorlin syndrome	http://www.ncbi.nlm.nih.gov/medgen/2554	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007187	http://purl.obolibrary.org/obo/MONDO_0007187	NANDO:2200828	ゴーリン症候群	Gorlin syndrome
C0010273	MedGen UID:1162	Crouzon syndrome	http://www.ncbi.nlm.nih.gov/medgen/1162	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007405	http://purl.obolibrary.org/obo/MONDO_0007405	NANDO:2200845	クルーゾン病	Crouzon disease
C0175699	MedGen UID:64221	Saethre-Chotzen syndrome	http://www.ncbi.nlm.nih.gov/medgen/64221	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007042	http://purl.obolibrary.org/obo/MONDO_0007042	NANDO:2200848	Seather-Chotzen症候群	Saethre-Chotzen syndrome
C0220988	MedGen UID:450997	Xanthinuria	http://www.ncbi.nlm.nih.gov/medgen/450997	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000721	http://purl.obolibrary.org/obo/MONDO_0000721	NANDO:2200588	キサンチン尿症	Xanthinuria
C0221023	MedGen UID:65121	Cyclical neutropenia	http://www.ncbi.nlm.nih.gov/medgen/65121	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008090	http://purl.obolibrary.org/obo/MONDO_0008090	NANDO:2200746	周期性好中球減少症	Cyclic neutropenia
C2939465	MedGen UID:473706	G6PD deficiency	http://www.ncbi.nlm.nih.gov/medgen/473706	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005775	http://purl.obolibrary.org/obo/MONDO_0005775	NANDO:2200627	グルコース-6-リン酸脱水素酵素欠乏症	Glucose-6-phosphate dehydrogenase deficiency
C5244016	MedGen UID:1826001	Cerebral creatine deficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/1826001	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000456	http://purl.obolibrary.org/obo/MONDO_0000456	NANDO:2200842	脳クレアチン欠乏症候群	Cerebral creatine deficiency syndrome
C0028064	MedGen UID:10348	Sphingomyelin/cholesterol lipidosis	http://www.ncbi.nlm.nih.gov/medgen/10348	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001982	http://purl.obolibrary.org/obo/MONDO_0001982	NANDO:2200561	ニーマン・ピック病	Niemann-Pick disease
C0347446	MedGen UID:91131	Spinal cord lipoma	http://www.ncbi.nlm.nih.gov/medgen/91131	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001790	http://purl.obolibrary.org/obo/MONDO_0001790	NANDO:2200815	脊髄脂肪腫	Spinal lipoma
C0398650	MedGen UID:584986	Autoimmune thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/584986	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008558	http://purl.obolibrary.org/obo/MONDO_0008558	NANDO:2200645	免疫性血小板減少性紫斑病	Immune thrombocytopenic purpura
C0398788	MedGen UID:140770	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/140770	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000133	http://purl.obolibrary.org/obo/MONDO_0000133	NANDO:2200708	ICF症候群	ICF syndrome
C1280798	MedGen UID:226914	Pseudo von Willebrand disease	http://www.ncbi.nlm.nih.gov/medgen/226914	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008332	http://purl.obolibrary.org/obo/MONDO_0008332	NANDO:2200668	血小板型フォンウィルブランド病	Platelet-type von Willebrand disease
C1861185	MedGen UID:349976	Thrombocytopenia 2	http://www.ncbi.nlm.nih.gov/medgen/349976	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008555	http://purl.obolibrary.org/obo/MONDO_0008555	NANDO:2200663	常染色体優性遺伝性血小板減少症	Autosomal dominant thrombocytopenia 2
C1863236	MedGen UID:354935	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	http://www.ncbi.nlm.nih.gov/medgen/354935	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007064	http://purl.obolibrary.org/obo/MONDO_0007064	NANDO:2200696	アデノシンデアミナーゼ欠損症	Adenosine deaminase deficiency
C0152264	MedGen UID:57520	Familial erythrocytosis	http://www.ncbi.nlm.nih.gov/medgen/57520	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001115	http://purl.obolibrary.org/obo/MONDO_0001115	NANDO:2200644	家族性赤血球増加症	Familial polycythemia
C0338503	MedGen UID:90926	Septo-optic dysplasia sequence	http://www.ncbi.nlm.nih.gov/medgen/90926	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008428	http://purl.obolibrary.org/obo/MONDO_0008428	NANDO:2200820	中隔視神経形成異常症	Septo-optic dysplasia
C0700623	MedGen UID:675194	Familial hyperlipidemia	http://www.ncbi.nlm.nih.gov/medgen/675194	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001336	http://purl.obolibrary.org/obo/MONDO_0001336	NANDO:2200603	家族性複合型高脂血症	Familial combined hyperlipidemia
C0033300	MedGen UID:46123	Hutchinson-Gilford syndrome	http://www.ncbi.nlm.nih.gov/medgen/46123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008310	http://purl.obolibrary.org/obo/MONDO_0008310	NANDO:2200833	ハッチンソン・ギルフォード症候群	Hutchinson-Gilford syndrome
C0038505	MedGen UID:21361	Sturge-Weber syndrome	http://www.ncbi.nlm.nih.gov/medgen/21361	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008501	http://purl.obolibrary.org/obo/MONDO_0008501	NANDO:2200830	スタージ・ウェーバー症候群	Sturge-Weber syndrome
C0039730	MedGen UID:21121	Thalassemia	http://www.ncbi.nlm.nih.gov/medgen/21121	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000984	http://purl.obolibrary.org/obo/MONDO_0000984	NANDO:2200626	サラセミア	Thalassemia
C0040028	MedGen UID:11797	Essential thrombocythemia	http://www.ncbi.nlm.nih.gov/medgen/11797	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005029	http://purl.obolibrary.org/obo/MONDO_0005029	NANDO:2200655	本態性血小板血症	Essential thrombocythemia
C0041227	MedGen UID:52872	Trypanosomiasis	http://www.ncbi.nlm.nih.gov/medgen/52872	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000940	http://purl.obolibrary.org/obo/MONDO_0000940	NANDO:2200774	トリパノソーマ感染症	Trypanosomiasis
C0041341	MedGen UID:22518	Tuberous sclerosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/22518	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001734	http://purl.obolibrary.org/obo/MONDO_0001734	NANDO:2200826	結節性硬化症	Tuberous sclerosis complex
C0272236	MedGen UID:124420	Hyperimmunoglobulin M syndrome	http://www.ncbi.nlm.nih.gov/medgen/124420	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003947	http://purl.obolibrary.org/obo/MONDO_0003947	NANDO:2200718	高IgM症候群	Hyper-IgM syndrome
C0272242	MedGen UID:82898	Reduced circulating complement concentration	http://www.ncbi.nlm.nih.gov/medgen/82898	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003832	http://purl.obolibrary.org/obo/MONDO_0003832	NANDO:2200776	先天性補体欠損症	Inherited deficiency of complement system
C0272282	MedGen UID:78799	Cyclic thrombocytopenia	http://www.ncbi.nlm.nih.gov/medgen/78799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008556	http://purl.obolibrary.org/obo/MONDO_0008556	NANDO:2200653	周期性血小板減少症	Cyclic thrombocytopenia
C1867339	MedGen UID:357960	Red cell phospholipid defect with hemolysis	http://www.ncbi.nlm.nih.gov/medgen/357960	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008367	http://purl.obolibrary.org/obo/MONDO_0008367	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
C4316906	MedGen UID:1385982	Factor XIII deficiency	http://www.ncbi.nlm.nih.gov/medgen/1385982	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002241	http://purl.obolibrary.org/obo/MONDO_0002241	NANDO:2200681	第XIII因子欠乏症	Factor XIII deficiency
C0015503	MedGen UID:8769	Factor VII deficiency	http://www.ncbi.nlm.nih.gov/medgen/8769	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002244	http://purl.obolibrary.org/obo/MONDO_0002244	NANDO:2200675	第VII因子欠乏症	Factor VII deficiency
C0015519	MedGen UID:4635	Factor X deficiency	http://www.ncbi.nlm.nih.gov/medgen/4635	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002247	http://purl.obolibrary.org/obo/MONDO_0002247	NANDO:2200678	第Ⅹ因子欠乏症	Factor X deficiency
C0019562	MedGen UID:42458	Von Hippel-Lindau syndrome	http://www.ncbi.nlm.nih.gov/medgen/42458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008667	http://purl.obolibrary.org/obo/MONDO_0008667	NANDO:2200829	フォンヒッペル・リンドウ病	von Hippel-Lindau disease
C0019693	MedGen UID:5583	Human immunodeficiency virus infection	http://www.ncbi.nlm.nih.gov/medgen/5583	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005109	http://purl.obolibrary.org/obo/MONDO_0005109	NANDO:2200810	ヒト免疫不全ウイルス	HIV infection
C0020445	MedGen UID:5688	Familial hypercholesterolemia	http://www.ncbi.nlm.nih.gov/medgen/5688	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005439	http://purl.obolibrary.org/obo/MONDO_0005439	NANDO:2200602	家族性高コレステロール血症	Familial hypercholesterolemia
C0020532	MedGen UID:9372	Hypersplenism	http://www.ncbi.nlm.nih.gov/medgen/9372	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006795	http://purl.obolibrary.org/obo/MONDO_0006795	NANDO:2200637	脾機能亢進症	Hypersplenism
C0012739	MedGen UID:41620	Disseminated intravascular coagulation	http://www.ncbi.nlm.nih.gov/medgen/41620	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001243	http://purl.obolibrary.org/obo/MONDO_0001243	NANDO:2200639	播種性血管内凝固症候群	Disseminated intravascular coagulation
C0242666	MedGen UID:69229	Protein S deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/69229	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002304	http://purl.obolibrary.org/obo/MONDO_0002304	NANDO:2200690	先天性プロテインS欠乏症	Protein S deficiency
C4049006	MedGen UID:883982	Selective IgA deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/883982	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001341	http://purl.obolibrary.org/obo/MONDO_0001341	NANDO:2200720	選択的IgA欠損症	Selective IgA deficiency
C0026847	MedGen UID:7755	Spinal muscular atrophy	http://www.ncbi.nlm.nih.gov/medgen/7755	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001516	http://purl.obolibrary.org/obo/MONDO_0001516	NANDO:2200853	脊髄性筋萎縮症	Spinal muscular atrophy
C0917804	MedGen UID:214590	Cerebral arteriovenous malformation	http://www.ncbi.nlm.nih.gov/medgen/214590	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007154	http://purl.obolibrary.org/obo/MONDO_0007154	NANDO:2200851	脳動静脈奇形	Cerebral arteriovenous malformation
C1334237	MedGen UID:232659	Intracranial cavernous angioma	http://www.ncbi.nlm.nih.gov/medgen/232659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002327	http://purl.obolibrary.org/obo/MONDO_0002327	NANDO:2200852	海綿状血管腫（脳脊髄）	Cavernous angioma of the brain and spinal cord
C4551860	MedGen UID:1642667	Ullrich congenital muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/1642667	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000355	http://purl.obolibrary.org/obo/MONDO_0000355	NANDO:2200862	ウルリヒ型先天性筋ジストロフィー	Ullrich congenital muscular dystrophy
C0238288	MedGen UID:65956	Facioscapulohumeral muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/65956	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001347	http://purl.obolibrary.org/obo/MONDO_0001347	NANDO:2200859	顔面肩甲上腕型筋ジストロフィー	Facioscapulohumeral muscular dystrophy
C0751951	MedGen UID:199773	Central core myopathy	http://www.ncbi.nlm.nih.gov/medgen/199773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007294	http://purl.obolibrary.org/obo/MONDO_0007294	NANDO:2200870	セントラルコア病	Central core disease
C0004135	MedGen UID:439	Ataxia-telangiectasia syndrome	http://www.ncbi.nlm.nih.gov/medgen/439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008840	http://purl.obolibrary.org/obo/MONDO_0008840	NANDO:2200705	毛細血管拡張性運動失調症	Ataxia telangiectasia
C0005129	MedGen UID:2212	Bernard Soulier syndrome	http://www.ncbi.nlm.nih.gov/medgen/2212	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009276	http://purl.obolibrary.org/obo/MONDO_0009276	NANDO:2200656	ベルナール・スーリエ症候群	Bernard-Soulier syndrome
C0005859	MedGen UID:2685	Bloom syndrome	http://www.ncbi.nlm.nih.gov/medgen/2685	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008876	http://purl.obolibrary.org/obo/MONDO_0008876	NANDO:2200707	ブルーム症候群	Bloom syndrome
C0007965	MedGen UID:3347	Chédiak-Higashi syndrome	http://www.ncbi.nlm.nih.gov/medgen/3347	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008963	http://purl.obolibrary.org/obo/MONDO_0008963	NANDO:2200724	チェディアック・東症候群	Chédiak-Higashi syndrome
C0221036	MedGen UID:66355	Hereditary acrodermatitis enteropathica	http://www.ncbi.nlm.nih.gov/medgen/66355	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008713	http://purl.obolibrary.org/obo/MONDO_0008713	NANDO:2200584	先天性腸性肢端皮膚炎	Acrodermatitis enteropathica
C2584774	MedGen UID:749036	Congenital afibrinogenemia	http://www.ncbi.nlm.nih.gov/medgen/749036	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008737	http://purl.obolibrary.org/obo/MONDO_0008737	NANDO:2200672	先天性フィブリノーゲン欠乏症	Afibrinogenemia
C2673377	MedGen UID:435914	Mucolipidosis type II	http://www.ncbi.nlm.nih.gov/medgen/435914	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009650	http://purl.obolibrary.org/obo/MONDO_0009650	NANDO:2200567	ムコリピドーシスII型	Mucolipidosis II
C2931418	MedGen UID:444051	MHC class II deficiency	http://www.ncbi.nlm.nih.gov/medgen/444051	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008855	http://purl.obolibrary.org/obo/MONDO_0008855	NANDO:2200702	MHCクラスII欠損症	MHC class II deficiency
C0023521	MedGen UID:44131	Galactosylceramide beta-galactosidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/44131	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009499	http://purl.obolibrary.org/obo/MONDO_0009499	NANDO:2200564	クラッベ病	Krabbe disease
C0023795	MedGen UID:6112	Lipid proteinosis	http://www.ncbi.nlm.nih.gov/medgen/6112	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009530	http://purl.obolibrary.org/obo/MONDO_0009530	NANDO:2200608	リポイドタンパク症	Lipoid proteinosis
C0268225	MedGen UID:78649	Aspartylglucosaminuria	http://www.ncbi.nlm.nih.gov/medgen/78649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008830	http://purl.obolibrary.org/obo/MONDO_0008830	NANDO:2200555	アスパルチルグルコサミン尿症	Aspartylglucosaminuria
C0268255	MedGen UID:78654	Farber lipogranulomatosis	http://www.ncbi.nlm.nih.gov/medgen/78654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009218	http://purl.obolibrary.org/obo/MONDO_0009218	NANDO:2200565	ファーバー病	Farber disease
C0398791	MedGen UID:140771	Microcephaly, normal intelligence and immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/140771	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009623	http://purl.obolibrary.org/obo/MONDO_0009623	NANDO:2200706	ナイミーヘン染色体不安定症候群	Nijmegen breakage syndrome
C0521802	MedGen UID:105489	Atransferrinemia	http://www.ncbi.nlm.nih.gov/medgen/105489	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008846	http://purl.obolibrary.org/obo/MONDO_0008846	NANDO:2200617	無トランスフェリン血症	Congenital atransferrinemia
C1856128	MedGen UID:344659	Hepatic veno-occlusive disease-immunodeficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/344659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009338	http://purl.obolibrary.org/obo/MONDO_0009338	NANDO:2200714	肝中心静脈閉鎖症を伴う免疫不全症	Hepatic veno-occlusive disease with immunodeficiency
C4746777	MedGen UID:1648402	Orthostatic hypotension 1	http://www.ncbi.nlm.nih.gov/medgen/1648402	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009123	http://purl.obolibrary.org/obo/MONDO_0009123	NANDO:2200597	ドーパミンβ-水酸化酵素欠損症	Dopamine beta hydroxylase deficiency
C0085132	MedGen UID:43108	Mucopolysaccharidosis type 7	http://www.ncbi.nlm.nih.gov/medgen/43108	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009662	http://purl.obolibrary.org/obo/MONDO_0009662	NANDO:2200552	ムコ多糖症VII型	Mucopolysaccharidosis type VII
C0342705	MedGen UID:83348	Congenital defect of folate absorption	http://www.ncbi.nlm.nih.gov/medgen/83348	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009238	http://purl.obolibrary.org/obo/MONDO_0009238	NANDO:2200592	先天性葉酸吸収不全症	Hereditary folate malabsorption
C0272340	MedGen UID:75780	High molecular weight kininogen deficiency	http://www.ncbi.nlm.nih.gov/medgen/75780	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009234	http://purl.obolibrary.org/obo/MONDO_0009234	NANDO:2200685	先天性高分子キニノゲン欠乏症	High molecular weight kininogen deficiency
C0015526	MedGen UID:8772	Factor XII deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/8772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009315	http://purl.obolibrary.org/obo/MONDO_0009315	NANDO:2200680	第XII因子欠乏症	Factor XII deficiency
C0016788	MedGen UID:5288	Fucosidosis	http://www.ncbi.nlm.nih.gov/medgen/5288	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009254	http://purl.obolibrary.org/obo/MONDO_0009254	NANDO:2200553	フコシドーシス	Fucosidosis
C0017921	MedGen UID:5340	Glycogen storage disease, type II	http://www.ncbi.nlm.nih.gov/medgen/5340	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009290	http://purl.obolibrary.org/obo/MONDO_0009290	NANDO:2200569	ポンペ病	Pompe disease
C0877024	MedGen UID:164078	Schimke immuno-osseous dysplasia	http://www.ncbi.nlm.nih.gov/medgen/164078	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009458	http://purl.obolibrary.org/obo/MONDO_0009458	NANDO:2200711	シムケ症候群	Schimke syndrome
C0010964	MedGen UID:4150	Dandy-Walker syndrome	http://www.ncbi.nlm.nih.gov/medgen/4150	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009072	http://purl.obolibrary.org/obo/MONDO_0009072	NANDO:2200821	ダンディー・ウォーカー症候群	Dandy-Walker syndrome
C0410174	MedGen UID:140820	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	http://www.ncbi.nlm.nih.gov/medgen/140820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009678	http://purl.obolibrary.org/obo/MONDO_0009678	NANDO:2200860	福山型先天性筋ジストロフィー	Fukuyama type congenital muscular dystrophy
C3150275	MedGen UID:461625	Complement component 2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/461625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009006	http://purl.obolibrary.org/obo/MONDO_0009006	NANDO:2200781	C2 欠損症	C2 deficiency
C0270726	MedGen UID:78724	Alexander disease	http://www.ncbi.nlm.nih.gov/medgen/78724	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008752	http://purl.obolibrary.org/obo/MONDO_0008752	NANDO:2200835	アレキサンダー病	Alexander disease
C0398595	MedGen UID:96015	Myeloperoxidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/96015	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009694	http://purl.obolibrary.org/obo/MONDO_0009694	NANDO:2200758	ミエロペルオキシダーゼ欠損症	Myeloperoxidase deficiency
C0544862	MedGen UID:154259	Neurocutaneous melanocytosis	http://www.ncbi.nlm.nih.gov/medgen/154259	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009578	http://purl.obolibrary.org/obo/MONDO_0009578	NANDO:2200827	神経皮膚黒色症	Neurocutaneous melanosis
C1859353	MedGen UID:347128	Predisposition to invasive fungal disease due to CARD9 deficiency	http://www.ncbi.nlm.nih.gov/medgen/347128	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008905	http://purl.obolibrary.org/obo/MONDO_0008905	NANDO:2200773	CARD9欠損症	CARD9 deficiency
C4016741	MedGen UID:865178	Immunodeficiency 32B	http://www.ncbi.nlm.nih.gov/medgen/865178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009194	http://purl.obolibrary.org/obo/MONDO_0009194	NANDO:2200808	慢性活動性EBウイルス感染症	Chronic active EB virus infection
C0014522	MedGen UID:41831	Epidermodysplasia verruciformis	http://www.ncbi.nlm.nih.gov/medgen/41831	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009176	http://purl.obolibrary.org/obo/MONDO_0009176	NANDO:2200768	疣贅状表皮発育異常症	Epidermodysplasia verruciformis
C1851945	MedGen UID:338823	Early-onset generalized limb-onset dystonia	http://www.ncbi.nlm.nih.gov/medgen/338823	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007492	http://purl.obolibrary.org/obo/MONDO_0007492	NANDO:2200884	変形性筋ジストニー	Dystonia musculorum deformans
C1852093	MedGen UID:377589	Maturity-onset diabetes of the young type 1	http://www.ncbi.nlm.nih.gov/medgen/377589	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007452	http://purl.obolibrary.org/obo/MONDO_0007452	NANDO:2201069	MODY1	Maturity-onset diabetes of the young type 1
C0001080	MedGen UID:1289	Achondroplasia	http://www.ncbi.nlm.nih.gov/medgen/1289	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007037	http://purl.obolibrary.org/obo/MONDO_0007037	NANDO:2201009	軟骨無形成症	Achondroplasia
C0004903	MedGen UID:2562	Beckwith-Wiedemann syndrome	http://www.ncbi.nlm.nih.gov/medgen/2562	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007534	http://purl.obolibrary.org/obo/MONDO_0007534	NANDO:2200959	ベックウィズ・ヴィーデマン症候群	Beckwith-Wiedemann syndrome
C0009324	MedGen UID:3532	Ulcerative colitis	http://www.ncbi.nlm.nih.gov/medgen/3532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005101	http://purl.obolibrary.org/obo/MONDO_0005101	NANDO:2200920	潰瘍性大腸炎	Ulcerative colitis
C0010314	MedGen UID:41345	5p partial monosomy syndrome	http://www.ncbi.nlm.nih.gov/medgen/41345	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007404	http://purl.obolibrary.org/obo/MONDO_0007404	NANDO:2200961	5p-症候群	5p- syndrome
C0010346	MedGen UID:3664	Crohn disease	http://www.ncbi.nlm.nih.gov/medgen/3664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005011	http://purl.obolibrary.org/obo/MONDO_0005011	NANDO:2200921	クローン病	Crohn's disease
C0011989	MedGen UID:4268	Diaphyseal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/4268	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007542	http://purl.obolibrary.org/obo/MONDO_0007542	NANDO:2200970	カムラティ・エンゲルマン症候群	Camurati-Engelmann disease
C0162635	MedGen UID:58144	Angelman syndrome	http://www.ncbi.nlm.nih.gov/medgen/58144	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007113	http://purl.obolibrary.org/obo/MONDO_0007113	NANDO:2200960	アンジェルマン症候群	Angelman syndrome
C0220658	MedGen UID:67390	Pfeiffer syndrome	http://www.ncbi.nlm.nih.gov/medgen/67390	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007043	http://purl.obolibrary.org/obo/MONDO_0007043	NANDO:2200976	ファイファー症候群	Pfeiffer syndrome
C0220668	MedGen UID:67391	Congenital contractural arachnodactyly	http://www.ncbi.nlm.nih.gov/medgen/67391	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007363	http://purl.obolibrary.org/obo/MONDO_0007363	NANDO:2201026	ビールズ症候群	Beals syndrome
C0023890	MedGen UID:7368	Cirrhosis of liver	http://www.ncbi.nlm.nih.gov/medgen/7368	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005155	http://purl.obolibrary.org/obo/MONDO_0005155	NANDO:2200937	肝硬変症	Liver cirrhosis
C0024221	MedGen UID:6153	Lymphangioma	http://www.ncbi.nlm.nih.gov/medgen/6153	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002013	http://purl.obolibrary.org/obo/MONDO_0002013	NANDO:2201032	リンパ管腫	Lymphangioma
C0026769	MedGen UID:10123	Multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/10123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005301	http://purl.obolibrary.org/obo/MONDO_0005301	NANDO:2200904	多発性硬化症	Multiple sclerosis
C0029455	MedGen UID:45251	Osteopoikilosis	http://www.ncbi.nlm.nih.gov/medgen/45251	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001414	http://purl.obolibrary.org/obo/MONDO_0001414	NANDO:2201024	骨斑紋症	Osteopoikilosis
C0029464	MedGen UID:10502	Increased bone mineral density	http://www.ncbi.nlm.nih.gov/medgen/10502	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002933	http://purl.obolibrary.org/obo/MONDO_0002933	NANDO:2201022	骨硬化性疾患	Osteosclerotic diseases
C0346072	MedGen UID:83401	Blue rubber bleb nevus	http://www.ncbi.nlm.nih.gov/medgen/83401	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007203	http://purl.obolibrary.org/obo/MONDO_0007203	NANDO:2201027	青色ゴムまり様母斑症候群	Blue rubber bleb nevus syndrome
C0393819	MedGen UID:98292	Chronic inflammatory demyelinating polyradiculoneuropathy	http://www.ncbi.nlm.nih.gov/medgen/98292	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006702	http://purl.obolibrary.org/obo/MONDO_0006702	NANDO:2200905	慢性炎症性脱髄性多発神経炎	Chronic inflammatory demyelinating polyneuropathy
C0431693	MedGen UID:96569	Renal cysts and diabetes syndrome	http://www.ncbi.nlm.nih.gov/medgen/96569	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007669	http://purl.obolibrary.org/obo/MONDO_0007669	NANDO:2201073	MODY5	Maturity-onset diabetes of the young type 5
C0085280	MedGen UID:39014	Arteriohepatic dysplasia	http://www.ncbi.nlm.nih.gov/medgen/39014	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007318	http://purl.obolibrary.org/obo/MONDO_0007318	NANDO:2200931	アラジール症候群	Alagille syndrome
C0342277	MedGen UID:87434	Maturity-onset diabetes of the young type 2	http://www.ncbi.nlm.nih.gov/medgen/87434	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007453	http://purl.obolibrary.org/obo/MONDO_0007453	NANDO:2201070	MODY2	Maturity-onset diabetes of the young type 2
C0342394	MedGen UID:574999	Neurohypophyseal diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/574999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007450	http://purl.obolibrary.org/obo/MONDO_0007450	NANDO:2201050	家族性中枢性尿崩症	Familial central diabetes insipidus
C0040560	MedGen UID:52799	Congenital toxoplasmosis	http://www.ncbi.nlm.nih.gov/medgen/52799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005715	http://purl.obolibrary.org/obo/MONDO_0005715	NANDO:2200892	先天性トキソプラズマ感染症	Congenital toxoplasmosis
C0014527	MedGen UID:41832	Epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/41832	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006541	http://purl.obolibrary.org/obo/MONDO_0006541	NANDO:2201000	表皮水疱症	Epidermolysis bullosa
C0015306	MedGen UID:4612	Multiple congenital exostosis	http://www.ncbi.nlm.nih.gov/medgen/4612	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005508	http://purl.obolibrary.org/obo/MONDO_0005508	NANDO:2201015	内軟骨腫症	Enchondromatosis
C0016037	MedGen UID:4698	Progressive myositis ossificans	http://www.ncbi.nlm.nih.gov/medgen/4698	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007606	http://purl.obolibrary.org/obo/MONDO_0007606	NANDO:2201020	進行性骨化性線維異形成症	Fibrodysplasia ossificans progressiva
C0020541	MedGen UID:9375	Portal hypertension	http://www.ncbi.nlm.nih.gov/medgen/9375	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005080	http://purl.obolibrary.org/obo/MONDO_0005080	NANDO:2200938	門脈圧亢進症	Portal hypertension
C0854914	MedGen UID:163163	bilateral retinoblastoma	http://www.ncbi.nlm.nih.gov/medgen/163163	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003075	http://purl.obolibrary.org/obo/MONDO_0003075	NANDO:2201038	両側性網膜芽細胞腫	Bilateral retinoblastoma
C0005411	MedGen UID:14117	Biliary atresia	http://www.ncbi.nlm.nih.gov/medgen/14117	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008867	http://purl.obolibrary.org/obo/MONDO_0008867	NANDO:2200930	胆道閉鎖症	biliary atresia
C0175778	MedGen UID:104500	Larsen syndrome	http://www.ncbi.nlm.nih.gov/medgen/104500	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007875	http://purl.obolibrary.org/obo/MONDO_0007875	NANDO:2201019	ラーセン症候群	Larsen syndrome
C0221025	MedGen UID:65122	Kasabach-Merritt syndrome	http://www.ncbi.nlm.nih.gov/medgen/65122	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007708	http://purl.obolibrary.org/obo/MONDO_0007708	NANDO:2201035	カサバッハ・メリット症候群	Kasabach-Merritt syndrome
C0221060	MedGen UID:66357	Oromandibular-limb hypogenesis spectrum	http://www.ncbi.nlm.nih.gov/medgen/66357	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008006	http://purl.obolibrary.org/obo/MONDO_0008006	NANDO:2200980	メビウス症候群	Moebius syndrome
C0410529	MedGen UID:98376	Hypochondroplasia	http://www.ncbi.nlm.nih.gov/medgen/98376	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007793	http://purl.obolibrary.org/obo/MONDO_0007793	NANDO:2201010	軟骨低形成症	Hypochondroplasia
C0410538	MedGen UID:98378	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	http://www.ncbi.nlm.nih.gov/medgen/98378	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008322	http://purl.obolibrary.org/obo/MONDO_0008322	NANDO:2201018	偽性軟骨無形成症	Pseudoachondroplasia
C5234850	MedGen UID:1714404	Antley-Bixler syndrome	http://www.ncbi.nlm.nih.gov/medgen/1714404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008803	http://purl.obolibrary.org/obo/MONDO_0008803	NANDO:2200975	アントレー・ビクスラー症候群	Antley-Bixler syndrome
C0022739	MedGen UID:9646	Angioosteohypertrophic syndrome	http://www.ncbi.nlm.nih.gov/medgen/9646	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007864	http://purl.obolibrary.org/obo/MONDO_0007864	NANDO:2201030	クリッペル・トレノネー・ウェーバー症候群	Klippel-Trenaunay-Weber syndrome
C0024796	MedGen UID:44287	Marfan syndrome	http://www.ncbi.nlm.nih.gov/medgen/44287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007947	http://purl.obolibrary.org/obo/MONDO_0007947	NANDO:2200968	マルファン症候群	Marfan syndrome
C0025268	MedGen UID:9958	Multiple endocrine neoplasia type 2A	http://www.ncbi.nlm.nih.gov/medgen/9958	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008234	http://purl.obolibrary.org/obo/MONDO_0008234	NANDO:2201052	MEN2A	Multiple endocrine neoplasia type 2A
C0025269	MedGen UID:9959	Multiple endocrine neoplasia type 2B	http://www.ncbi.nlm.nih.gov/medgen/9959	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008082	http://purl.obolibrary.org/obo/MONDO_0008082	NANDO:2201053	MEN2B	Multiple endocrine neoplasia type 2B
C0031269	MedGen UID:18404	Peutz-Jeghers syndrome	http://www.ncbi.nlm.nih.gov/medgen/18404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008280	http://purl.obolibrary.org/obo/MONDO_0008280	NANDO:2200917	ポイツ・ジェガース症候群	Peutz-Jeghers syndrome
C0268059	MedGen UID:82768	Neonatal hemochromatosis	http://www.ncbi.nlm.nih.gov/medgen/82768	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009275	http://purl.obolibrary.org/obo/MONDO_0009275	NANDO:2200927	新生児ヘモクロマトーシス	Neonatal hemochromatosis
C0268416	MedGen UID:82802	Enterokinase deficiency	http://www.ncbi.nlm.nih.gov/medgen/82802	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009173	http://purl.obolibrary.org/obo/MONDO_0009173	NANDO:2200910	エンテロキナーゼ欠損症	Enterokinase deficiency
C0432306	MedGen UID:98153	Ichthyosis bullosa of Siemens	http://www.ncbi.nlm.nih.gov/medgen/98153	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007813	http://purl.obolibrary.org/obo/MONDO_0007813	NANDO:2200990	表在性表皮融解性魚鱗癬	Superficial epidermolytic ichthyosis
C1283620	MedGen UID:220924	Sucrase-isomaltase deficiency	http://www.ncbi.nlm.nih.gov/medgen/220924	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009114	http://purl.obolibrary.org/obo/MONDO_0009114	NANDO:2200908	ショ糖イソ麦芽糖分解酵素欠損症	Congenital sucrase-isomaltase deficiency
C1856113	MedGen UID:341067	Mowat-Wilson syndrome	http://www.ncbi.nlm.nih.gov/medgen/341067	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009341	http://purl.obolibrary.org/obo/MONDO_0009341	NANDO:2200981	モワット・ウィルソン症候群	Mowat-Wilson syndrome
C4225671	MedGen UID:902479	VATER association	http://www.ncbi.nlm.nih.gov/medgen/902479	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008642	http://purl.obolibrary.org/obo/MONDO_0008642	NANDO:2200983	VATER症候群	VATER syndrome
C0340231	MedGen UID:137939	Tracheobronchomalacia	http://www.ncbi.nlm.nih.gov/medgen/137939	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008888	http://purl.obolibrary.org/obo/MONDO_0008888	NANDO:2201040	気管支軟化症	Bronchomalacia
C0587248	MedGen UID:108454	Costello syndrome	http://www.ncbi.nlm.nih.gov/medgen/108454	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009026	http://purl.obolibrary.org/obo/MONDO_0009026	NANDO:2200971	コステロ症候群	Costello syndrome
C0598226	MedGen UID:108615	Autosomal recessive congenital ichthyosis 4B	http://www.ncbi.nlm.nih.gov/medgen/108615	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009443	http://purl.obolibrary.org/obo/MONDO_0009443	NANDO:2200992	道化師様魚鱗癬	Harlequin ichthyosis
C5551003	MedGen UID:1789261	Crigler-Najjar syndrome	http://www.ncbi.nlm.nih.gov/medgen/1789261	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009044	http://purl.obolibrary.org/obo/MONDO_0009044	NANDO:2200941	クリグラー・ナジャー症候群	Crigler-Najjar syndrome
C1956097	MedGen UID:408255	4p partial monosomy syndrome	http://www.ncbi.nlm.nih.gov/medgen/408255	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008684	http://purl.obolibrary.org/obo/MONDO_0008684	NANDO:2200962	4p-症候群	4p- Syndrome
C0013080	MedGen UID:4385	Down syndrome	http://www.ncbi.nlm.nih.gov/medgen/4385	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008608	http://purl.obolibrary.org/obo/MONDO_0008608	NANDO:2200965	ダウン症候群	Down syndrome
C0014084	MedGen UID:41775	Enchondromatosis	http://www.ncbi.nlm.nih.gov/medgen/41775	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008145	http://purl.obolibrary.org/obo/MONDO_0008145	NANDO:2201015	内軟骨腫症	Enchondromatosis
C0018522	MedGen UID:5414	Hallermann-Streiff syndrome	http://www.ncbi.nlm.nih.gov/medgen/5414	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009318	http://purl.obolibrary.org/obo/MONDO_0009318	NANDO:2200973	ハーラマン・ストライフ症候群	Hallermann-Streiff syndrome
C0018523	MedGen UID:6708	Pigmentary pallidal degeneration	http://www.ncbi.nlm.nih.gov/medgen/6708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009319	http://purl.obolibrary.org/obo/MONDO_0009319	NANDO:2200886	パントテン酸キナーゼ関連神経変性症	Pantothenate kinase-associated neurodegeneration
C0238339	MedGen UID:116056	Hereditary pancreatitis	http://www.ncbi.nlm.nih.gov/medgen/116056	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008185	http://purl.obolibrary.org/obo/MONDO_0008185	NANDO:2200942	遺伝性膵炎	Hereditary pancreatitis
C0265354	MedGen UID:75567	CHARGE syndrome	http://www.ncbi.nlm.nih.gov/medgen/75567	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008965	http://purl.obolibrary.org/obo/MONDO_0008965	NANDO:2200972	チャージ症候群	CHARGE syndrome
C0795864	MedGen UID:162881	Smith-Magenis syndrome	http://www.ncbi.nlm.nih.gov/medgen/162881	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008434	http://purl.obolibrary.org/obo/MONDO_0008434	NANDO:2200954	スミス・マギニス症候群	Smith-Magenis syndrome
C1855109	MedGen UID:344422	Methylmalonic aciduria, cblA type	http://www.ncbi.nlm.nih.gov/medgen/344422	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009613	http://purl.obolibrary.org/obo/MONDO_0009613	NANDO:2201105	コバラミン代謝異常 cblA	Methylmalonic acidemia cblA type
C1855128	MedGen UID:344426	Methylcobalamin deficiency type cblG	http://www.ncbi.nlm.nih.gov/medgen/344426	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009609	http://purl.obolibrary.org/obo/MONDO_0009609	NANDO:2201111	コバラミン代謝異常 cblG	Methylcobalamin deficiency cblG type 
C0268146	MedGen UID:78644	Glucose-6-phosphate transport defect	http://www.ncbi.nlm.nih.gov/medgen/78644	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009288	http://purl.obolibrary.org/obo/MONDO_0009288	NANDO:2201154	糖原病Ib型	Glycogen storage disease type 1b
C0268250	MedGen UID:78652	Gaucher disease type II	http://www.ncbi.nlm.nih.gov/medgen/78652	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009266	http://purl.obolibrary.org/obo/MONDO_0009266	NANDO:2201211	ゴーシェ病2型	Gaucher disease type 2
C0268251	MedGen UID:78653	Gaucher disease type III	http://www.ncbi.nlm.nih.gov/medgen/78653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009267	http://purl.obolibrary.org/obo/MONDO_0009267	NANDO:2201212	ゴーシェ病3型	Gaucher disease type 3
C0268262	MedGen UID:120624	Sphingolipid activator protein 1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/120624	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009590	http://purl.obolibrary.org/obo/MONDO_0009590	NANDO:2201205	サポシンB欠損症	Saposin B deficiency
C0268271	MedGen UID:75665	Infantile GM1 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/75665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009260	http://purl.obolibrary.org/obo/MONDO_0009260	NANDO:2201196	乳児型GM1-ガングリオシドーシス	GM1 gangliosidosis, infantile form
C0268272	MedGen UID:120625	GM1 gangliosidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/120625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009261	http://purl.obolibrary.org/obo/MONDO_0009261	NANDO:2201197	若年型GM1-ガングリオシドーシス	GM1 gangliosidosis, juvenile form
C0268273	MedGen UID:78655	GM1 gangliosidosis type 3	http://www.ncbi.nlm.nih.gov/medgen/78655	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009262	http://purl.obolibrary.org/obo/MONDO_0009262	NANDO:2201198	成人型GM1-ガングリオシドーシス	GM1 gangliosidosis, adult form
C0268390	MedGen UID:120634	Familial amyloid nephropathy with urticaria AND deafness	http://www.ncbi.nlm.nih.gov/medgen/120634	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008633	http://purl.obolibrary.org/obo/MONDO_0008633	NANDO:2201067	マックル・ウェルズ症候群	Muckle-Wells syndrome
C1855861	MedGen UID:343430	Glycogen storage disorder due to hepatic glycogen synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/343430	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	NANDO:2201151	糖原病0a型	Glycogen storage disease type 0a
C1856057	MedGen UID:344640	Methylcobalamin deficiency type cblE	http://www.ncbi.nlm.nih.gov/medgen/344640	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009354	http://purl.obolibrary.org/obo/MONDO_0009354	NANDO:2201109	コバラミン代謝異常 cblE	Methylcobalamin deficiency cblE type 
C1961835	MedGen UID:409531	Gaucher disease type I	http://www.ncbi.nlm.nih.gov/medgen/409531	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009265	http://purl.obolibrary.org/obo/MONDO_0009265	NANDO:2201210	ゴーシェ病1型	Gaucher disease type 1
C2919796	MedGen UID:415885	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	http://www.ncbi.nlm.nih.gov/medgen/415885	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009287	http://purl.obolibrary.org/obo/MONDO_0009287	NANDO:2201153	糖原病Ia型	Glycogen storage disease type 1a
C0751276	MedGen UID:155528	Metachromatic leukodystrophy, juvenile type	http://www.ncbi.nlm.nih.gov/medgen/155528	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009591	http://purl.obolibrary.org/obo/MONDO_0009591	NANDO:2201203	若年型異染性白質ジストロフィー	Metachromatic leukodystrophy, juvenile form
C4048196	MedGen UID:888408	Beta-D-mannosidosis	http://www.ncbi.nlm.nih.gov/medgen/888408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009562	http://purl.obolibrary.org/obo/MONDO_0009562	NANDO:2201190	β-マンノシドーシス	Beta-mannosidosis
C1855102	MedGen UID:344420	Methylmalonic aciduria, cblB type	http://www.ncbi.nlm.nih.gov/medgen/344420	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009614	http://purl.obolibrary.org/obo/MONDO_0009614	NANDO:2201106	コバラミン代謝異常 cblB	Methylmalonic acidemia cblB type
C0026896	MedGen UID:7764	Myasthenia gravis	http://www.ncbi.nlm.nih.gov/medgen/7764	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009688	http://purl.obolibrary.org/obo/MONDO_0009688	NANDO:2200906	重症筋無力症	Myasthenia gravis
C0086647	MedGen UID:39264	Mucopolysaccharidosis, MPS-III-A	http://www.ncbi.nlm.nih.gov/medgen/39264	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009655	http://purl.obolibrary.org/obo/MONDO_0009655	NANDO:2201174	A型ムコ多糖症III型	Mucopolysaccharidosis type III A
C0086648	MedGen UID:88601	Mucopolysaccharidosis, MPS-III-B	http://www.ncbi.nlm.nih.gov/medgen/88601	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009656	http://purl.obolibrary.org/obo/MONDO_0009656	NANDO:2201175	B型ムコ多糖症III型	Mucopolysaccharidosis type III B
C0086649	MedGen UID:39477	Mucopolysaccharidosis, MPS-III-C	http://www.ncbi.nlm.nih.gov/medgen/39477	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009657	http://purl.obolibrary.org/obo/MONDO_0009657	NANDO:2201176	C型ムコ多糖症III型	Mucopolysaccharidosis type III C
C0086650	MedGen UID:88602	Mucopolysaccharidosis, MPS-III-D	http://www.ncbi.nlm.nih.gov/medgen/88602	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009658	http://purl.obolibrary.org/obo/MONDO_0009658	NANDO:2201177	D型ムコ多糖症III型	Mucopolysaccharidosis type III D
C0086651	MedGen UID:43375	Mucopolysaccharidosis, MPS-IV-A	http://www.ncbi.nlm.nih.gov/medgen/43375	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009659	http://purl.obolibrary.org/obo/MONDO_0009659	NANDO:2201178	A型ムコ多糖症IV型	Mucopolysaccharidosis type IV A
C0086652	MedGen UID:43376	Mucopolysaccharidosis, MPS-IV-B	http://www.ncbi.nlm.nih.gov/medgen/43376	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009660	http://purl.obolibrary.org/obo/MONDO_0009660	NANDO:2201179	B型ムコ多糖症IV型	Mucopolysaccharidosis type IV B
C0341306	MedGen UID:137954	Congenital microvillous atrophy	http://www.ncbi.nlm.nih.gov/medgen/137954	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009635	http://purl.obolibrary.org/obo/MONDO_0009635	NANDO:2200913	微絨毛封入体病	Microvillus inclusion disease
C0751783	MedGen UID:155631	Lafora disease	http://www.ncbi.nlm.nih.gov/medgen/155631	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009697	http://purl.obolibrary.org/obo/MONDO_0009697	NANDO:2200881	ラフォラ病	Lafora disease
C1835437	MedGen UID:331974	Platyspondylic dysplasia, Torrance type	http://www.ncbi.nlm.nih.gov/medgen/331974	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007895	http://purl.obolibrary.org/obo/MONDO_0007895	NANDO:2201347	扁平椎異形成症 Torrance型	Platyspondylic dysplasia, Torrance type
C0162531	MedGen UID:57931	Hereditary coproporphyria	http://www.ncbi.nlm.nih.gov/medgen/57931	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007369	http://purl.obolibrary.org/obo/MONDO_0007369	NANDO:2201264	遺伝性コプロポルフィリン症	Hereditary coproporphyria
C0162532	MedGen UID:58118	Variegate porphyria	http://www.ncbi.nlm.nih.gov/medgen/58118	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008297	http://purl.obolibrary.org/obo/MONDO_0008297	NANDO:2201265	異型ポルフィリン症	Variegate porphyria
C0162565	MedGen UID:56452	Acute intermittent porphyria	http://www.ncbi.nlm.nih.gov/medgen/56452	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008294	http://purl.obolibrary.org/obo/MONDO_0008294	NANDO:2201263	急性間欠性ポルフィリン症	Acute intermittent porphyria
C0162568	MedGen UID:56455	Erythropoietic protoporphyria	http://www.ncbi.nlm.nih.gov/medgen/56455	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001676	http://purl.obolibrary.org/obo/MONDO_0001676	NANDO:2201266	赤芽球性プロトポルフィリン症	Erythropoietic protoporphyria
C0220685	MedGen UID:66315	Achondrogenesis type II	http://www.ncbi.nlm.nih.gov/medgen/66315	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008702	http://purl.obolibrary.org/obo/MONDO_0008702	NANDO:2201345	軟骨無発生症2型	Achondrogenesis type 2
C0410539	MedGen UID:96080	Craniodiaphyseal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/96080	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009031	http://purl.obolibrary.org/obo/MONDO_0009031	NANDO:2201368	頭蓋骨幹異形成症	Craniodiaphyseal dysplasia
C2020284	MedGen UID:810955	Stickler syndrome type 1	http://www.ncbi.nlm.nih.gov/medgen/810955	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007160	http://purl.obolibrary.org/obo/MONDO_0007160	NANDO:2201354	Stickler症候群1型	Stickler syndrome type 1
C3149631	MedGen UID:460981	Melorheostosis	http://www.ncbi.nlm.nih.gov/medgen/460981	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007970	http://purl.obolibrary.org/obo/MONDO_0007970	NANDO:2201364	流蝋骨症	Melorheostosis
C0268337	MedGen UID:75670	Ehlers-Danlos syndrome, type 3	http://www.ncbi.nlm.nih.gov/medgen/75670	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007523	http://purl.obolibrary.org/obo/MONDO_0007523	NANDO:2201257	関節型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, hypermobility type
C0268374	MedGen UID:82798	Junctional epidermolysis bullosa, non-Herlitz type	http://www.ncbi.nlm.nih.gov/medgen/82798	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009180	http://purl.obolibrary.org/obo/MONDO_0009180	NANDO:2201379	非ヘルリッツ型表皮水疱症	Non-Herlitz junctional epidermolysis bullosa
C0268626	MedGen UID:75701	Juvenile nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/75701	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009066	http://purl.obolibrary.org/obo/MONDO_0009066	NANDO:2201235	中間型シスチン症	Intermediate cystinosis
C0432224	MedGen UID:98147	Chondrodysplasia punctata, MT type	http://www.ncbi.nlm.nih.gov/medgen/98147	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007322	http://purl.obolibrary.org/obo/MONDO_0007322	NANDO:2201359	脛骨・中手骨型点状軟骨異形成症	Chondrodysplasia punctata, tibial-metacarpal type
C0432262	MedGen UID:98150	Dysosteosclerosis	http://www.ncbi.nlm.nih.gov/medgen/98150	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009138	http://purl.obolibrary.org/obo/MONDO_0009138	NANDO:2201365	異骨性骨硬化症	Dysosteosclerosis
C1856245	MedGen UID:383869	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	http://www.ncbi.nlm.nih.gov/medgen/383869	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009310	http://purl.obolibrary.org/obo/MONDO_0009310	NANDO:2201282	p67phox欠損慢性肉芽腫症	p67phox-deficient chronic granulomatous disease
C1856251	MedGen UID:341102	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	http://www.ncbi.nlm.nih.gov/medgen/341102	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009309	http://purl.obolibrary.org/obo/MONDO_0009309	NANDO:2201281	p47phox欠損慢性肉芽腫症	p47phox-deficient chronic granulomatous disease
C1856255	MedGen UID:383872	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	http://www.ncbi.nlm.nih.gov/medgen/383872	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009308	http://purl.obolibrary.org/obo/MONDO_0009308	NANDO:2201280	p22phox欠損慢性肉芽腫症	p22phox-deficient chronic granulomatous disease
C4225429	MedGen UID:909864	Ehlers-Danlos syndrome, classic type	http://www.ncbi.nlm.nih.gov/medgen/909864	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007522	http://purl.obolibrary.org/obo/MONDO_0007522	NANDO:2201256	古典型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, classical type
C0079474	MedGen UID:36311	Recessive dystrophic epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/36311	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009179	http://purl.obolibrary.org/obo/MONDO_0009179	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
C0079683	MedGen UID:36328	Junctional epidermolysis bullosa gravis of Herlitz	http://www.ncbi.nlm.nih.gov/medgen/36328	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009182	http://purl.obolibrary.org/obo/MONDO_0009182	NANDO:2201378	ヘルリッツ型表皮水疱症	Herlitz junctional epidermolysis bullosa
C0700635	MedGen UID:147134	Spondyloepimetaphyseal dysplasia, Strudwick type	http://www.ncbi.nlm.nih.gov/medgen/147134	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008476	http://purl.obolibrary.org/obo/MONDO_0008476	NANDO:2201349	脊椎骨端骨幹端異形成症 Strudwick型	Spondyloepimetaphyseal dysplasia, Strudwick type
C4551623	MedGen UID:1645042	Ehlers-Danlos syndrome, arthrochalasia type	http://www.ncbi.nlm.nih.gov/medgen/1645042	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007525	http://purl.obolibrary.org/obo/MONDO_0007525	NANDO:2201260	多発関節弛緩型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, arthrochalasis type
C5676875	MedGen UID:1810975	Junctional epidermolysis bullosa with pyloric atresia	http://www.ncbi.nlm.nih.gov/medgen/1810975	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009183	http://purl.obolibrary.org/obo/MONDO_0009183	NANDO:2201380	幽門閉鎖合併型表皮水疱症	Junctional epidermolysis bullosa with pyloric atresia
C2700425	MedGen UID:397792	Ehlers-Danlos syndrome, dermatosparaxis type	http://www.ncbi.nlm.nih.gov/medgen/397792	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009161	http://purl.obolibrary.org/obo/MONDO_0009161	NANDO:2201261	皮膚脆弱型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, dermatosparaxis type
C2745959	MedGen UID:412530	Spondyloepiphyseal dysplasia congenita	http://www.ncbi.nlm.nih.gov/medgen/412530	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008471	http://purl.obolibrary.org/obo/MONDO_0008471	NANDO:2201348	先天性脊椎骨端異形成症	Spondyloepiphyseal dysplasia congenita
C2931013	MedGen UID:419313	Ocular cystinosis	http://www.ncbi.nlm.nih.gov/medgen/419313	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009064	http://purl.obolibrary.org/obo/MONDO_0009064	NANDO:2201236	非腎型シスチン症	Non-nephropathic cystinosis 
C2931048	MedGen UID:418969	Greenberg dysplasia	http://www.ncbi.nlm.nih.gov/medgen/418969	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008974	http://purl.obolibrary.org/obo/MONDO_0008974	NANDO:2201361	Greenberg骨異形成症	Greenberg dysplasia
C2931072	MedGen UID:418981	Epidermolysis bullosa simplex 5B, with muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/418981	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009181	http://purl.obolibrary.org/obo/MONDO_0009181	NANDO:2201376	筋ジストロフィー合併型表皮水疱症	Epidermolysis bullosa simplex with muscular dystrophy
C0265279	MedGen UID:75559	Kniest dysplasia	http://www.ncbi.nlm.nih.gov/medgen/75559	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007987	http://purl.obolibrary.org/obo/MONDO_0007987	NANDO:2201350	Kniest異形成症	Kniest dysplasia
C0751964	MedGen UID:155968	Primary progressive multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155968	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000451	http://purl.obolibrary.org/obo/MONDO_0000451	NANDO:2201320	一次性進行型多発性硬化症	Primary progressive multiple sclerosis
C0751965	MedGen UID:155969	Secondary progressive multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155969	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000450	http://purl.obolibrary.org/obo/MONDO_0000450	NANDO:2201321	二次性進行型多発性硬化症	Secondary progressive multiple sclerosis
C0751967	MedGen UID:155669	Relapsing remitting multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155669	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005314	http://purl.obolibrary.org/obo/MONDO_0005314	NANDO:2201319	再発寛解型多発性硬化症	Relapsing-remitting multiple sclerosis
C5681331	MedGen UID:1826154	Inherited aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/1826154	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001713	http://purl.obolibrary.org/obo/MONDO_0001713	NANDO:2201275	先天性再生不良性貧血	Congenital aplastic anemia
C1853271	MedGen UID:501133	Autosomal recessive hypophosphatemic bone disease	http://www.ncbi.nlm.nih.gov/medgen/501133	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009431	http://purl.obolibrary.org/obo/MONDO_0009431	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
C0221032	MedGen UID:67438	Congenital generalized lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/67438	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006536	http://purl.obolibrary.org/obo/MONDO_0006536	NANDO:2201444	先天性全身性脂肪萎縮症	Generalized congenital lipodystrophy
C0221055	MedGen UID:113142	Paramyotonia congenita of Von Eulenburg	http://www.ncbi.nlm.nih.gov/medgen/113142	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008195	http://purl.obolibrary.org/obo/MONDO_0008195	NANDO:2201512	先天性パラミオトニー	Paramyotonia congenita
C5848259	MedGen UID:1845578	Werdnig-Hoffmann disease	http://www.ncbi.nlm.nih.gov/medgen/1845578	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009669	http://purl.obolibrary.org/obo/MONDO_0009669	NANDO:2201430	脊髄性筋萎縮症I型	Spinal muscular atrophy type I
C0024796	MedGen UID:44287	Marfan syndrome	http://www.ncbi.nlm.nih.gov/medgen/44287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007947	http://purl.obolibrary.org/obo/MONDO_0007947	NANDO:1201158	マルファン症候群	Marfan syndrome
C0030443	MedGen UID:18291	Familial periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/18291	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000995	http://purl.obolibrary.org/obo/MONDO_0000995	NANDO:2100307	遺伝性周期性四肢麻痺	Hereditary hyperkalemic periodic paralysis
C0393538	MedGen UID:95975	Spinal muscular atrophy, type II	http://www.ncbi.nlm.nih.gov/medgen/95975	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009673	http://purl.obolibrary.org/obo/MONDO_0009673	NANDO:2201431	脊髄性筋萎縮症II型	Spinal muscular atrophy type II
C0152109	MedGen UID:101816	Kugelberg-Welander disease	http://www.ncbi.nlm.nih.gov/medgen/101816	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009672	http://purl.obolibrary.org/obo/MONDO_0009672	NANDO:2201432	脊髄性筋萎縮症III型	Spinal muscular atrophy type III
C0341106	MedGen UID:83318	Eosinophilic esophagitis	http://www.ncbi.nlm.nih.gov/medgen/83318	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005361	http://purl.obolibrary.org/obo/MONDO_0005361	NANDO:2201439	好酸球性食道炎	Eosinophilic esophagitis
C0342418	MedGen UID:137970	Hamartoma of hypothalamus	http://www.ncbi.nlm.nih.gov/medgen/137970	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009436	http://purl.obolibrary.org/obo/MONDO_0009436	NANDO:2201401	視床下部過誤腫症候群	Hypothalamic hamartoma syndrome
C3887523	MedGen UID:854382	Very long chain acyl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/854382	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008723	http://purl.obolibrary.org/obo/MONDO_0008723	NANDO:1201109	極長鎖アシル-CoA 脱水素酵素欠損症	very long-chain acyl-CoA dehydrogenase
C4551898	MedGen UID:1645830	Progressive familial intrahepatic cholestasis type 1	http://www.ncbi.nlm.nih.gov/medgen/1645830	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008892	http://purl.obolibrary.org/obo/MONDO_0008892	NANDO:2201436	進行性家族性肝内胆汁うっ滞症1型	Progressive familial intrahepatic cholestasis type 1
C0282512	MedGen UID:79465	Landau-Kleffner syndrome	http://www.ncbi.nlm.nih.gov/medgen/79465	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009509	http://purl.obolibrary.org/obo/MONDO_0009509	NANDO:2201429	ランドウ・クレフナー症候群	Landau-Kleffner syndrome
C1868678	MedGen UID:358383	Thanatophoric dysplasia type 1	http://www.ncbi.nlm.nih.gov/medgen/358383	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008546	http://purl.obolibrary.org/obo/MONDO_0008546	NANDO:2201427	タナトフォリック骨異形成症1型	Thanatophoric dysplasia type 1
C4511620	MedGen UID:1377523	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	http://www.ncbi.nlm.nih.gov/medgen/1377523	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008264	http://purl.obolibrary.org/obo/MONDO_0008264	NANDO:2201386	常染色体優性尿細管間質性腎疾患	Autosomal dominant tubulointerstitial kidney disease
C0019829	MedGen UID:9283	Classic Hodgkin lymphoma	http://www.ncbi.nlm.nih.gov/medgen/9283	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009348	http://purl.obolibrary.org/obo/MONDO_0009348	NANDO:2201476	古典的ホジキンリンパ腫	Classical Hodgkin's lymphoma
C0022387	MedGen UID:5929	Jervell and Lange-Nielsen syndrome	http://www.ncbi.nlm.nih.gov/medgen/5929	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002441	http://purl.obolibrary.org/obo/MONDO_0002441	NANDO:2201453	Jervell Lange Nielsen症候群	Jervell Lange Nielsen syndrome
C0238357	MedGen UID:68665	Familial hyperkalemic periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/68665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008224	http://purl.obolibrary.org/obo/MONDO_0008224	NANDO:2201514	遺伝性高カリウム性周期性四肢麻痺	Hereditary hyperkalemic periodic paralysis
C0238358	MedGen UID:116058	Hypokalemic periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/116058	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008223	http://purl.obolibrary.org/obo/MONDO_0008223	NANDO:2201515	遺伝性低カリウム性周期性四肢麻痺	Hereditary hypokalemic periodic paralysis
C0263666	MedGen UID:120486	Childhood type dermatomyositis	http://www.ncbi.nlm.nih.gov/medgen/120486	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008054	http://purl.obolibrary.org/obo/MONDO_0008054	NANDO:1201132	若年性皮膚筋炎	juvnile dermatomyositis
C0265223	MedGen UID:78539	Cohen syndrome	http://www.ncbi.nlm.nih.gov/medgen/78539	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008999	http://purl.obolibrary.org/obo/MONDO_0008999	NANDO:2201418	コーエン症候群	Cohen syndrome
C0265234	MedGen UID:82693	Melnick-Fraser syndrome	http://www.ncbi.nlm.nih.gov/medgen/82693	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007029	http://purl.obolibrary.org/obo/MONDO_0007029	NANDO:2201391	鰓耳腎症候群	Branchio-oto-renal syndrome
C0265264	MedGen UID:120524	Holt-Oram syndrome	http://www.ncbi.nlm.nih.gov/medgen/120524	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007732	http://purl.obolibrary.org/obo/MONDO_0007732	NANDO:2201392	ホルト・オーラム症候群	Holt-Oram syndrome
C0265308	MedGen UID:120532	Baller-Gerold syndrome	http://www.ncbi.nlm.nih.gov/medgen/120532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009039	http://purl.obolibrary.org/obo/MONDO_0009039	NANDO:2201530	バレー・ジェロルド症候群	Baller-Gerold symdrome
C0795949	MedGen UID:167086	Galloway-Mowat syndrome	http://www.ncbi.nlm.nih.gov/medgen/167086	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009627	http://purl.obolibrary.org/obo/MONDO_0009627	NANDO:2201385	ギャロウェイ・モワト症候群	Galloway-Mowat syndrome
C1300257	MedGen UID:226975	Thanatophoric dysplasia, type 2	http://www.ncbi.nlm.nih.gov/medgen/226975	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008547	http://purl.obolibrary.org/obo/MONDO_0008547	NANDO:2201428	タナトフォリック骨異形成症2型	Thanatophoric dysplasia type 2
C1848533	MedGen UID:341248	Familial isolated deficiency of vitamin E	http://www.ncbi.nlm.nih.gov/medgen/341248	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010188	http://purl.obolibrary.org/obo/MONDO_0010188	NANDO:1200050	ビタミンE単独欠乏性失調症	Ataxia with isolated vitamin E deficiency
C0002986	MedGen UID:8083	Fabry disease	http://www.ncbi.nlm.nih.gov/medgen/8083	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010526	http://purl.obolibrary.org/obo/MONDO_0010526	NANDO:1200157	ファブリー病	Fabry disease
C0162671	MedGen UID:56485	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	http://www.ncbi.nlm.nih.gov/medgen/56485	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010789	http://purl.obolibrary.org/obo/MONDO_0010789	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
C2026514	MedGen UID:1708324	X-linked cerebral adrenoleukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/1708324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010247	http://purl.obolibrary.org/obo/MONDO_0010247	NANDO:1200166	小児大脳型副腎白質ジストロフィー	Childhood cerebral adrenoleukodystrophy
C0023264	MedGen UID:44095	Leigh syndrome	http://www.ncbi.nlm.nih.gov/medgen/44095	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009723	http://purl.obolibrary.org/obo/MONDO_0009723	NANDO:1200175	リー脳症	Leigh's encephalomyelopathy
C0026705	MedGen UID:7734	Mucopolysaccharidosis, MPS-II	http://www.ncbi.nlm.nih.gov/medgen/7734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010674	http://purl.obolibrary.org/obo/MONDO_0010674	NANDO:1200097	Hunter症候群	Hunter syndrome
C0268233	MedGen UID:82779	Combined deficiency of sialidase AND beta galactosidase	http://www.ncbi.nlm.nih.gov/medgen/82779	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009737	http://purl.obolibrary.org/obo/MONDO_0009737	NANDO:1200119	ガラクトシアリドーシス	Galactosialidosis
C0268242	MedGen UID:78650	Niemann-Pick disease, type A	http://www.ncbi.nlm.nih.gov/medgen/78650	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009756	http://purl.obolibrary.org/obo/MONDO_0009756	NANDO:1200061	ニーマン・ピック病A型	Niemann-Pick disease type A
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	NANDO:1200083	マルチプルサルファターゼ欠損症	Multiple sulfatase deficiency
C0268275	MedGen UID:78657	Tay-Sachs disease, variant AB	http://www.ncbi.nlm.nih.gov/medgen/78657	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010099	http://purl.obolibrary.org/obo/MONDO_0010099	NANDO:1200073	AB型GM2ガングリオシドーシス	GM2 gangliosidosis AB variant
C1096902	MedGen UID:203367	Sialic acid storage disease, severe infantile type	http://www.ncbi.nlm.nih.gov/medgen/203367	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010027	http://purl.obolibrary.org/obo/MONDO_0010027	NANDO:1200147	乳児型遊離シアル酸蓄積症	Infantile free sialic acid storage disease
C4282398	MedGen UID:924303	Sialidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/924303	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	NANDO:1200118	シアリドーシスII型	Sialidosis type 2
C1838230	MedGen UID:325364	Spinal muscular atrophy, type IV	http://www.ncbi.nlm.nih.gov/medgen/325364	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010056	http://purl.obolibrary.org/obo/MONDO_0010056	NANDO:1200007	脊髄性筋萎縮症IV型	Spinal muscular atrophy type IV
C1839259	MedGen UID:333282	Kennedy disease	http://www.ncbi.nlm.nih.gov/medgen/333282	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010735	http://purl.obolibrary.org/obo/MONDO_0010735	NANDO:1200001	球脊髄性筋萎縮症	Spinal and bulbar muscular atrophy
C0036161	MedGen UID:11313	Sandhoff disease	http://www.ncbi.nlm.nih.gov/medgen/11313	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010006	http://purl.obolibrary.org/obo/MONDO_0010006	NANDO:1200072	サンドホフ病	Sandhoff disease
C0038522	MedGen UID:52527	Subacute sclerosing panencephalitis	http://www.ncbi.nlm.nih.gov/medgen/52527	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	NANDO:1200195	亜急性硬化性全脳炎	Subacute sclerosing panencephalitis
C0039373	MedGen UID:11713	Tay-Sachs disease	http://www.ncbi.nlm.nih.gov/medgen/11713	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010100	http://purl.obolibrary.org/obo/MONDO_0010100	NANDO:1200071	Tay-Sachs病	Tay-Sachs disease
C0878677	MedGen UID:209235	Danon disease	http://www.ncbi.nlm.nih.gov/medgen/209235	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010281	http://purl.obolibrary.org/obo/MONDO_0010281	NANDO:1200222	ダノン病	Danon disease
C0004712	MedGen UID:498	Balo concentric sclerosis	http://www.ncbi.nlm.nih.gov/medgen/498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016430	http://purl.obolibrary.org/obo/MONDO_0016430	NANDO:1200028	Baló病	Baló concentric sclerosis
C0007959	MedGen UID:2980	Charcot-Marie-Tooth disease	http://www.ncbi.nlm.nih.gov/medgen/2980	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015626	http://purl.obolibrary.org/obo/MONDO_0015626	NANDO:1200016	シャルコー・マリー・トゥース病	Charcot-Marie-Tooth disease
C0008626	MedGen UID:3441	Congenital chromosomal disease	http://www.ncbi.nlm.nih.gov/medgen/3441	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019040	http://purl.obolibrary.org/obo/MONDO_0019040	NANDO:1100014	染色体または遺伝子に変化を伴う症候群	Chromosome abnormality
C0220756	MedGen UID:67399	Niemann-Pick disease, type C	http://www.ncbi.nlm.nih.gov/medgen/67399	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018982	http://purl.obolibrary.org/obo/MONDO_0018982	NANDO:1200063	ニーマン・ピック病C型	Niemann-Pick disease type C
C0023522	MedGen UID:6071	Metachromatic leukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6071	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018868	http://purl.obolibrary.org/obo/MONDO_0018868	NANDO:1200078	異染性白質ジストロフィー	Metachromatic leukodystrophy
C0023806	MedGen UID:44174	Sialidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/44174	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019346	http://purl.obolibrary.org/obo/MONDO_0019346	NANDO:1200117	シアリドーシスI型	Sialidosis type 1
C0026706	MedGen UID:6452	Sanfilippo syndrome	http://www.ncbi.nlm.nih.gov/medgen/6452	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018937	http://purl.obolibrary.org/obo/MONDO_0018937	NANDO:1200100	サンフィリッポ症候群	Sanfilippo disease
C0026707	MedGen UID:44513	Morquio syndrome	http://www.ncbi.nlm.nih.gov/medgen/44513	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018938	http://purl.obolibrary.org/obo/MONDO_0018938	NANDO:1200105	モルキオ症候群	Morquio syndrome
C0026708	MedGen UID:6453	Mucopolysaccharidosis, MPS-I-S	http://www.ncbi.nlm.nih.gov/medgen/6453	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011760	http://purl.obolibrary.org/obo/MONDO_0011760	NANDO:1200095	シェイエ病	Scheie disease
C0027868	MedGen UID:10323	Neuromuscular disease	http://www.ncbi.nlm.nih.gov/medgen/10323	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019056	http://purl.obolibrary.org/obo/MONDO_0019056	NANDO:1100001	神経・筋疾患	Neuromuscular disease
C0027873	MedGen UID:45063	Neuromyelitis optica	http://www.ncbi.nlm.nih.gov/medgen/45063	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019100	http://purl.obolibrary.org/obo/MONDO_0019100	NANDO:1200027	視神経脊髄炎	Neuromyelitis optica spectrum disorders
C0268226	MedGen UID:120621	Sialidosis	http://www.ncbi.nlm.nih.gov/medgen/120621	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017734	http://purl.obolibrary.org/obo/MONDO_0017734	NANDO:1200116	シアリドーシス	Sialidosis
C0268243	MedGen UID:78651	Niemann-Pick disease, type B	http://www.ncbi.nlm.nih.gov/medgen/78651	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011871	http://purl.obolibrary.org/obo/MONDO_0011871	NANDO:1200062	ニーマン・ピック病B型	Niemann-Pick disease type B
C0268252	MedGen UID:120623	Adult Krabbe disease	http://www.ncbi.nlm.nih.gov/medgen/120623	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016091	http://purl.obolibrary.org/obo/MONDO_0016091	NANDO:1200077	成人型クラッベ病	Adult Krabbe disease
C0268274	MedGen UID:78656	GM2 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/78656	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017720	http://purl.obolibrary.org/obo/MONDO_0017720	NANDO:1200070	GM2ガングリオシドーシス	GM2 gangliosidosis
C0270914	MedGen UID:124378	Charcot-Marie-Tooth disease type 2	http://www.ncbi.nlm.nih.gov/medgen/124378	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018993	http://purl.obolibrary.org/obo/MONDO_0018993	NANDO:1200018	軸索型シャルコー・マリー・トゥース病	Charcot-Marie-Tooth disease type 2
C0393555	MedGen UID:581445	Pure hereditary spastic paraplegia	http://www.ncbi.nlm.nih.gov/medgen/581445	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015149	http://purl.obolibrary.org/obo/MONDO_0015149	NANDO:1200053	痙性対麻痺（純粋型）	Pure hereditary spastic paraplegia
C0393556	MedGen UID:581446	Complex hereditary spastic paraplegia	http://www.ncbi.nlm.nih.gov/medgen/581446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015150	http://purl.obolibrary.org/obo/MONDO_0015150	NANDO:1200054	痙性対麻痺（複合型）	Complex hereditary spastic paraplegia
C0393847	MedGen UID:581615	Multifocal motor neuropathy	http://www.ncbi.nlm.nih.gov/medgen/581615	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018979	http://purl.obolibrary.org/obo/MONDO_0018979	NANDO:1200031	多巣性運動ニューロパチー	Multifocal motor neuropathy
C0398568	MedGen UID:140765	McLeod neuroacanthocytosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/140765	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018945	http://purl.obolibrary.org/obo/MONDO_0018945	NANDO:1200015	Mcleod症候群	McLeod syndrome
C3472711	MedGen UID:483339	Spinocerebellar ataxia type 36	http://www.ncbi.nlm.nih.gov/medgen/483339	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013594	http://purl.obolibrary.org/obo/MONDO_0013594	NANDO:1200048	脊髄小脳失調症36型	Spinocerebellar ataxia type 36
C0085131	MedGen UID:43107	GM1 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/43107	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018149	http://purl.obolibrary.org/obo/MONDO_0018149	NANDO:1200066	GM1ガングリオシドーシス	GM1 gangliosidosis
C0085404	MedGen UID:39276	POEMS syndrome	http://www.ncbi.nlm.nih.gov/medgen/39276	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017364	http://purl.obolibrary.org/obo/MONDO_0017364	NANDO:1200033	クロウ・深瀬症候群	Crow-Fukase syndrome
C0086431	MedGen UID:88566	Mucopolysaccharidosis, MPS-I-H/S	http://www.ncbi.nlm.nih.gov/medgen/88566	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011759	http://purl.obolibrary.org/obo/MONDO_0011759	NANDO:1200096	ハーラー／シェイエ病	Hurler-Scheie disease
C0086795	MedGen UID:39698	Hurler syndrome	http://www.ncbi.nlm.nih.gov/medgen/39698	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011758	http://purl.obolibrary.org/obo/MONDO_0011758	NANDO:1200094	ハーラー病	Hurler disease
C0154682	MedGen UID:57591	Primary lateral sclerosis	http://www.ncbi.nlm.nih.gov/medgen/57591	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018155	http://purl.obolibrary.org/obo/MONDO_0018155	NANDO:1200008	原発性側索硬化症	Primary lateral sclerosis
C0342841	MedGen UID:575246	Mucopolysaccharidosis type 2, severe form	http://www.ncbi.nlm.nih.gov/medgen/575246	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016315	http://purl.obolibrary.org/obo/MONDO_0016315	NANDO:1200098	ハンター症候群（重症型）	Hunter syndrome type A
C0751036	MedGen UID:155486	Charcot-Marie-Tooth disease, type I	http://www.ncbi.nlm.nih.gov/medgen/155486	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019011	http://purl.obolibrary.org/obo/MONDO_0019011	NANDO:1200017	脱髄型シャルコー・マリー・トゥース病	Charcot-Marie-Tooth disease type 1
C5554234	MedGen UID:1843304	Multiple system atrophy, cerebellar type	http://www.ncbi.nlm.nih.gov/medgen/1843304	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016418	http://purl.obolibrary.org/obo/MONDO_0016418	NANDO:1200035	MSA-C	Multiple system atrophy, cerebellar type
C0033788	MedGen UID:10988	Pseudo-Hurler polydystrophy	http://www.ncbi.nlm.nih.gov/medgen/10988	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018931	http://purl.obolibrary.org/obo/MONDO_0018931	NANDO:1200125	ムコリピドーシスIII型	Mucolipidosis III
C0037773	MedGen UID:20844	Hereditary spastic paraplegia	http://www.ncbi.nlm.nih.gov/medgen/20844	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019064	http://purl.obolibrary.org/obo/MONDO_0019064	NANDO:1200052	痙性対麻痺	Hereditary spastic paraplegia
C0038868	MedGen UID:21026	Progressive supranuclear palsy	http://www.ncbi.nlm.nih.gov/medgen/21026	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019037	http://purl.obolibrary.org/obo/MONDO_0019037	NANDO:1200009	進行性核上性麻痺	Progressive supranuclear palsy
C0017205	MedGen UID:42164	Gaucher disease	http://www.ncbi.nlm.nih.gov/medgen/42164	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018150	http://purl.obolibrary.org/obo/MONDO_0018150	NANDO:1200056	ゴーシェ病	Gaucher disease
C0751273	MedGen UID:148270	Infantile Krabbe disease	http://www.ncbi.nlm.nih.gov/medgen/148270	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016089	http://purl.obolibrary.org/obo/MONDO_0016089	NANDO:1200075	乳児型クラッベ病	Infantile Krabbe disease
C0751278	MedGen UID:155529	Metachromatic leukodystrophy, late infantile form	http://www.ncbi.nlm.nih.gov/medgen/155529	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017729	http://purl.obolibrary.org/obo/MONDO_0017729	NANDO:1200079	後期乳児型異染性白質ジストロフィー	Late infantile metachromatic leukodystrophy
C0751279	MedGen UID:199625	Metachromatic leukodystrophy, adult type	http://www.ncbi.nlm.nih.gov/medgen/199625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017730	http://purl.obolibrary.org/obo/MONDO_0017730	NANDO:1200081	成人型異染性白質ジストロフィー	Adult metachromatic leukodystrophy
C0751882	MedGen UID:155650	Congenital myasthenic syndrome	http://www.ncbi.nlm.nih.gov/medgen/155650	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018940	http://purl.obolibrary.org/obo/MONDO_0018940	NANDO:1200021	先天性筋無力症候群	Congenital myasthenic syndrome
C1291490	MedGen UID:226942	Deficiency of hyaluronoglucosaminidase	http://www.ncbi.nlm.nih.gov/medgen/226942	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011093	http://purl.obolibrary.org/obo/MONDO_0011093	NANDO:1200115	ヒアルロニダーゼ欠損症	Hyaluronidase deficiency
C5679815	MedGen UID:1826165	Mucopolysaccharidosis type 2, attenuated form	http://www.ncbi.nlm.nih.gov/medgen/1826165	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016316	http://purl.obolibrary.org/obo/MONDO_0016316	NANDO:1200099	ハンター症候群（軽症型）	Hunter syndrome type B
C5680108	MedGen UID:1826149	Charcot-Marie-Tooth disease, intermediate type	http://www.ncbi.nlm.nih.gov/medgen/1826149	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018778	http://purl.obolibrary.org/obo/MONDO_0018778	NANDO:1200019	中間型シャルコー・マリー・トゥース病	Intermediate Charcot-Marie-Tooth disease
C5680869	MedGen UID:1826101	Niemann-Pick disease type C, adult neurologic onset	http://www.ncbi.nlm.nih.gov/medgen/1826101	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016310	http://purl.obolibrary.org/obo/MONDO_0016310	NANDO:1200065	成人型ニーマン・ピック病C型	Adult-onset Niemann-Pick disease type C
CN294033	MedGen UID:976451	Neuroacanthocytosis	http://www.ncbi.nlm.nih.gov/medgen/976451	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016987	http://purl.obolibrary.org/obo/MONDO_0016987	NANDO:1200013	神経有棘赤血球症	Neuroacanthocytosis
C1852467	MedGen UID:377682	Creutzfeldt-Jakob disease, sporadic	http://www.ncbi.nlm.nih.gov/medgen/377682	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016079	http://purl.obolibrary.org/obo/MONDO_0016079	NANDO:1200187	孤発性クロイツフェルト・ヤコブ病	Sporadic Creutzfeldt-Jakob disease
C1853926	MedGen UID:381298	GNE myopathy	http://www.ncbi.nlm.nih.gov/medgen/381298	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011603	http://purl.obolibrary.org/obo/MONDO_0011603	NANDO:1200218	縁取り空胞を伴う遠位型ミオパチー	Distal myopathy with rimmed vacuoles
C0008384	MedGen UID:40266	Cholesteryl ester storage disease	http://www.ncbi.nlm.nih.gov/medgen/40266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019149	http://purl.obolibrary.org/obo/MONDO_0019149	NANDO:1200144	コレステロールエステル蓄積症	Cholesterol ester storage disease
C0162309	MedGen UID:57667	Adrenoleukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/57667	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018544	http://purl.obolibrary.org/obo/MONDO_0018544	NANDO:1200165	副腎白質ジストロフィー	Adrenoleukodystrophy
C0162672	MedGen UID:56486	MERRF syndrome	http://www.ncbi.nlm.nih.gov/medgen/56486	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010790	http://purl.obolibrary.org/obo/MONDO_0010790	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
C0206042	MedGen UID:104768	Fatal familial insomnia	http://www.ncbi.nlm.nih.gov/medgen/104768	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010808	http://purl.obolibrary.org/obo/MONDO_0010808	NANDO:1200191	致死性家族性不眠症	Fatal familial insomnia
C2931872	MedGen UID:419512	Free sialic acid storage disease	http://www.ncbi.nlm.nih.gov/medgen/419512	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019366	http://purl.obolibrary.org/obo/MONDO_0019366	NANDO:1200146	遊離シアル酸蓄積症	Free sialic acid storage disease
C5848084	MedGen UID:1845666	Alpha-N-acetylgalactosaminidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/1845666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017779	http://purl.obolibrary.org/obo/MONDO_0017779	NANDO:1200134	シンドラー病	Schindler disease
C0022797	MedGen UID:7230	Adult neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/7230	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019260	http://purl.obolibrary.org/obo/MONDO_0019260	NANDO:1200155	成人型神経セロイドリポフスチン症	Adult neuronal ceroid lipofuscinosis
C0023524	MedGen UID:7327	Progressive multifocal leukoencephalopathy	http://www.ncbi.nlm.nih.gov/medgen/7327	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016318	http://purl.obolibrary.org/obo/MONDO_0016318	NANDO:1200205	進行性多巣性白質脳症	Progressive multifocal leukoencephalopathy
C0026654	MedGen UID:7726	Moyamoya disease	http://www.ncbi.nlm.nih.gov/medgen/7726	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016820	http://purl.obolibrary.org/obo/MONDO_0016820	NANDO:1200183	もやもや病	Moyamoya disease
C0027877	MedGen UID:10326	Neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/10326	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016295	http://purl.obolibrary.org/obo/MONDO_0016295	NANDO:1200150	セロイドリポフスチノーシス	Neuronal ceroid-lipofuscinosis
C0268281	MedGen UID:75666	Infantile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/75666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019261	http://purl.obolibrary.org/obo/MONDO_0019261	NANDO:1200152	乳児型神経セロイドリポフスチン症	Infantile neuronal ceroid lipofuscinosis
C0342623	MedGen UID:87446	Wild type ATTR amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/87446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018018	http://purl.obolibrary.org/obo/MONDO_0018018	NANDO:1200212	全身性野生型トランスサイレチンアミロイドーシス	wild-type transthyretin amyloidosis
C1836522	MedGen UID:324539	Alpha-N-acetylgalactosaminidase deficiency type 2	http://www.ncbi.nlm.nih.gov/medgen/324539	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012222	http://purl.obolibrary.org/obo/MONDO_0012222	NANDO:1200136	シンドラー病II型	Schindler disease type 2
C1836544	MedGen UID:373113	Alpha-N-acetylgalactosaminidase deficiency type 1	http://www.ncbi.nlm.nih.gov/medgen/373113	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012221	http://purl.obolibrary.org/obo/MONDO_0012221	NANDO:1200135	シンドラー病I型	Schindler disease type I
C3888924	MedGen UID:923868	Glycogen storage disease due to acid maltase deficiency, infantile onset	http://www.ncbi.nlm.nih.gov/medgen/923868	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017694	http://purl.obolibrary.org/obo/MONDO_0017694	NANDO:1200139	乳児型ポンペ病	Classic infantile Pompe disease
C0043208	MedGen UID:53088	Wolman disease	http://www.ncbi.nlm.nih.gov/medgen/53088	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	NANDO:1200143	ウォルマン病	Wolman disease
C0281479	MedGen UID:129028	Primary systemic amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/129028	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017816	http://purl.obolibrary.org/obo/MONDO_0017816	NANDO:1200209	全身性アミロイドーシス	Systemic amyloidosis
C4316899	MedGen UID:1384792	Cystinosis	http://www.ncbi.nlm.nih.gov/medgen/1384792	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016239	http://purl.obolibrary.org/obo/MONDO_0016239	NANDO:1200161	シスチン症	Cystinosis
C5437471	MedGen UID:1772900	Alpha-N-acetylgalactosaminidase deficiency type 3	http://www.ncbi.nlm.nih.gov/medgen/1772900	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019264	http://purl.obolibrary.org/obo/MONDO_0019264	NANDO:1200137	シンドラー病III型	Schindler disease type 3
C0022340	MedGen UID:9589	Late-infantile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/9589	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015674	http://purl.obolibrary.org/obo/MONDO_0015674	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
C0751336	MedGen UID:155541	Distal myopathy	http://www.ncbi.nlm.nih.gov/medgen/155541	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018949	http://purl.obolibrary.org/obo/MONDO_0018949	NANDO:1200216	遠位型ミオパチー	Distal myopathy
C1527231	MedGen UID:315918	Adrenomyeloneuropathy	http://www.ncbi.nlm.nih.gov/medgen/315918	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015339	http://purl.obolibrary.org/obo/MONDO_0015339	NANDO:1200168	副腎脊髄ニューロパチー	Adrenomyeloneuropathy
C5679974	MedGen UID:1843432	Alpha-mannosidosis, adult form	http://www.ncbi.nlm.nih.gov/medgen/1843432	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017733	http://purl.obolibrary.org/obo/MONDO_0017733	NANDO:1200128	若年成人型α - マンノシドーシス	Alpha-mannosidosis, adult form
C5681076	MedGen UID:1843217	Intermediate severe Salla disease	http://www.ncbi.nlm.nih.gov/medgen/1843217	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017737	http://purl.obolibrary.org/obo/MONDO_0017737	NANDO:1200148	中間型遊離シアル酸蓄積症	Intermediate severe Salla disease
C5681100	MedGen UID:1826177	Acquired Creutzfeldt-Jakob disease	http://www.ncbi.nlm.nih.gov/medgen/1826177	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018686	http://purl.obolibrary.org/obo/MONDO_0018686	NANDO:1200192	獲得性クロイツフェルト・ヤコブ病	Environmentally acquired Creutzfeldt-Jakob disease
CN293564	MedGen UID:978346	Juvenile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/978346	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019262	http://purl.obolibrary.org/obo/MONDO_0019262	NANDO:1200154	若年型神経セロイドリポフスチン症	Juvenile neuronal ceroid lipofuscinosis
C0002874	MedGen UID:8063	Aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/8063	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015909	http://purl.obolibrary.org/obo/MONDO_0015909	NANDO:1200295	再生不良性貧血	Aplastic anemia
C0008728	MedGen UID:3088	Eosinophilic granulomatosis with polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/3088	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015943	http://purl.obolibrary.org/obo/MONDO_0015943	NANDO:1200264	好酸球性多発血管炎性肉芽腫症	Eosinophilic granulomatosis with polyangiitis
C0009447	MedGen UID:40407	Common variable immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/40407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015517	http://purl.obolibrary.org/obo/MONDO_0015517	NANDO:1200344	分類不能型免疫不全症	Common variable immunodeficiency
C0221026	MedGen UID:65123	X-linked agammaglobulinemia	http://www.ncbi.nlm.nih.gov/medgen/65123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010421	http://purl.obolibrary.org/obo/MONDO_0010421	NANDO:1200343	X連鎖無ガンマグロブリン血症	X-linked agammaglobulinemia
C2677092	MedGen UID:383023	Pyogenic bacterial infections due to MyD88 deficiency	http://www.ncbi.nlm.nih.gov/medgen/383023	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012839	http://purl.obolibrary.org/obo/MONDO_0012839	NANDO:1200362	MyD88欠損症	MyD88 deficiency
C2677792	MedGen UID:394368	RIDDLE syndrome	http://www.ncbi.nlm.nih.gov/medgen/394368	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012764	http://purl.obolibrary.org/obo/MONDO_0012764	NANDO:1200336	RIDDLE症候群	RIDDLE syndrome
C0265965	MedGen UID:78580	Dyskeratosis congenita	http://www.ncbi.nlm.nih.gov/medgen/78580	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015780	http://purl.obolibrary.org/obo/MONDO_0015780	NANDO:1200304	先天性角化不全症	Dyskeratosis congenita
C0268125	MedGen UID:75653	Purine-nucleoside phosphorylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013171	http://purl.obolibrary.org/obo/MONDO_0013171	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
C0348890	MedGen UID:87595	Idiopathic aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/87595	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012197	http://purl.obolibrary.org/obo/MONDO_0012197	NANDO:1200296	特発性再生不良性貧血	Idiopathic aplastic anemia
C0392439	MedGen UID:581114	Acrodermatitis continua suppurativa of Hallopeau	http://www.ncbi.nlm.nih.gov/medgen/581114	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013626	http://purl.obolibrary.org/obo/MONDO_0013626	NANDO:1200244	稽留性肢端皮膚炎の汎発化	Acrodermatitis continua of Hallopeau
C0549463	MedGen UID:107498	X-linked lymphoproliferative syndrome	http://www.ncbi.nlm.nih.gov/medgen/107498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010627	http://purl.obolibrary.org/obo/MONDO_0010627	NANDO:1200351	X連鎖リンパ増殖症候群	X-linked lymphoproliferative syndrome
C1268935	MedGen UID:224783	Upshaw-Schulman syndrome	http://www.ncbi.nlm.nih.gov/medgen/224783	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010122	http://purl.obolibrary.org/obo/MONDO_0010122	NANDO:1200317	先天性血栓性血小板減少性紫斑病	Congenital thrombotic thrombocytopenic purpura
C1279481	MedGen UID:220906	X-linked severe combined immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/220906	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010315	http://purl.obolibrary.org/obo/MONDO_0010315	NANDO:1200321	X連鎖重症複合免疫不全症	X-linked severe combined immunodeficiency
C1858266	MedGen UID:346868	MHC class I deficiency	http://www.ncbi.nlm.nih.gov/medgen/346868	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011476	http://purl.obolibrary.org/obo/MONDO_0011476	NANDO:1200328	MHCクラスI欠損症	MHC class I deficiency
C3495801	MedGen UID:811223	Granulomatosis with polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/811223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012105	http://purl.obolibrary.org/obo/MONDO_0012105	NANDO:1200263	多発血管炎性肉芽腫症	Granulomatosis with polyangiitis
C1837065	MedGen UID:323058	Susceptibility to respiratory infections associated with CD8alpha chain mutation	http://www.ncbi.nlm.nih.gov/medgen/323058	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012161	http://purl.obolibrary.org/obo/MONDO_0012161	NANDO:1200326	CD8欠損症	CD8 deficiency
C1839615	MedGen UID:374264	X-linked myopathy with excessive autophagy	http://www.ncbi.nlm.nih.gov/medgen/374264	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010684	http://purl.obolibrary.org/obo/MONDO_0010684	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
C1843256	MedGen UID:375137	Immunodeficiency 67	http://www.ncbi.nlm.nih.gov/medgen/375137	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011888	http://purl.obolibrary.org/obo/MONDO_0011888	NANDO:1200361	IRAK4欠損症	IRAK4 deficiency
C1846006	MedGen UID:375786	Ectodermal dysplasia and immune deficiency	http://www.ncbi.nlm.nih.gov/medgen/375786	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010293	http://purl.obolibrary.org/obo/MONDO_0010293	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
C5574950	MedGen UID:1802991	Netherton syndrome	http://www.ncbi.nlm.nih.gov/medgen/1802991	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009735	http://purl.obolibrary.org/obo/MONDO_0009735	NANDO:1200338	ネザートン症候群	Netherton syndrome
C5575025	MedGen UID:1809040	Combined immunodeficiency due to ZAP70 deficiency	http://www.ncbi.nlm.nih.gov/medgen/1809040	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010023	http://purl.obolibrary.org/obo/MONDO_0010023	NANDO:1200327	ZAP-70欠損症	Zap-70 deficiency
C0036391	MedGen UID:19892	Schwartz-Jampel syndrome	http://www.ncbi.nlm.nih.gov/medgen/19892	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009717	http://purl.obolibrary.org/obo/MONDO_0009717	NANDO:1200224	シュワルツ・ヤンペル症候群	Schwartz-Jampel syndrome
C0043194	MedGen UID:21921	Wiskott-Aldrich syndrome	http://www.ncbi.nlm.nih.gov/medgen/21921	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010518	http://purl.obolibrary.org/obo/MONDO_0010518	NANDO:1200330	ウィスコット・オルドリッチ症候群	Wiskott-Aldrich syndrome
C0272167	MedGen UID:124417	Reticular dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/124417	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009973	http://purl.obolibrary.org/obo/MONDO_0009973	NANDO:1200322	細網異形成症	Reticular dysgenesis
C0272170	MedGen UID:124418	Shwachman syndrome	http://www.ncbi.nlm.nih.gov/medgen/124418	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009833	http://purl.obolibrary.org/obo/MONDO_0009833	NANDO:1200356	シュワッハマン・ダイアモンド症候群	Shwachman-Diamond syndrome
C0272238	MedGen UID:124421	Transient hypogammaglobulinemia of infancy	http://www.ncbi.nlm.nih.gov/medgen/124421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015698	http://purl.obolibrary.org/obo/MONDO_0015698	NANDO:1200349	乳児一過性低ガンマグロブリン血症	Transient hypogammaglobulinemia of infancy with normal numbers of B cells
C2700553	MedGen UID:398130	Histiocytic medullary reticulosis	http://www.ncbi.nlm.nih.gov/medgen/398130	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011338	http://purl.obolibrary.org/obo/MONDO_0011338	NANDO:1200324	オーメン症候群	Omenn syndrome
C1527336	MedGen UID:282890	Sjogren syndrome	http://www.ncbi.nlm.nih.gov/medgen/282890	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	NANDO:1200279	シェーグレン症候群	Sjogren's syndrome
C1848296	MedGen UID:341190	46,XY sex reversal 2	http://www.ncbi.nlm.nih.gov/medgen/341190	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010226	http://purl.obolibrary.org/obo/MONDO_0010226	NANDO:1200404	NR0B1異常症	NR0B1　abnormality
C0001403	MedGen UID:1324	Primary adrenocortical insufficiency	http://www.ncbi.nlm.nih.gov/medgen/1324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015129	http://purl.obolibrary.org/obo/MONDO_0015129	NANDO:1200411	アジソン病	Addison's disease
C0006845	MedGen UID:2426	Chronic mucocutaneous candidiasis	http://www.ncbi.nlm.nih.gov/medgen/2426	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015279	http://purl.obolibrary.org/obo/MONDO_0015279	NANDO:1200363	慢性皮膚粘膜カンジダ症	Chronic mucocutaneous candidiasis
C2973725	MedGen UID:425404	Pulmonary arterial hypertension	http://www.ncbi.nlm.nih.gov/medgen/425404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015924	http://purl.obolibrary.org/obo/MONDO_0015924	NANDO:1200425	肺動脈性肺高血圧症	Pulmonary arterial hypertension
C1860042	MedGen UID:348008	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	http://www.ncbi.nlm.nih.gov/medgen/348008	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013310	http://purl.obolibrary.org/obo/MONDO_0013310	NANDO:1200402	P450酸化還元酵素欠損症	P450 oxidoreductase deficiency
C3489793	MedGen UID:483746	46,XY sex reversal 3	http://www.ncbi.nlm.nih.gov/medgen/483746	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013066	http://purl.obolibrary.org/obo/MONDO_0013066	NANDO:1200405	NR5A1異常症	NR5A1 abnormality
C4275066	MedGen UID:909851	Familial avascular necrosis of the femoral head	http://www.ncbi.nlm.nih.gov/medgen/909851	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012126	http://purl.obolibrary.org/obo/MONDO_0012126	NANDO:1200373	特発性大腿骨頭壊死症	Idiopathic osteonecrosis of femoral head
C0085548	MedGen UID:39076	Autosomal recessive polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/39076	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009889	http://purl.obolibrary.org/obo/MONDO_0009889	NANDO:1200369	常染色体劣性多発性嚢胞腎	Autosomal recessive polycystic kidney disease
C0687720	MedGen UID:146919	Central diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/146919	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015790	http://purl.obolibrary.org/obo/MONDO_0015790	NANDO:1200375	中枢性尿崩症	Central diabetes insipidus
C1846009	MedGen UID:337364	IMAGe syndrome	http://www.ncbi.nlm.nih.gov/medgen/337364	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013873	http://purl.obolibrary.org/obo/MONDO_0013873	NANDO:1200406	IMAge症候群	IMAge syndrome
C0033375	MedGen UID:10936	Prolactin-producing pituitary gland adenoma	http://www.ncbi.nlm.nih.gov/medgen/10936	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010911	http://purl.obolibrary.org/obo/MONDO_0010911	NANDO:1200378	下垂体性PRL分泌亢進症	Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome
C0034091	MedGen UID:18769	Pulmonary venoocclusive disease	http://www.ncbi.nlm.nih.gov/medgen/18769	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009937	http://purl.obolibrary.org/obo/MONDO_0009937	NANDO:1200427	肺静脈閉塞症	Pulmonary veno-occlusive disease
C1865343	MedGen UID:355447	Ossification of the posterior longitudinal ligament of the spine	http://www.ncbi.nlm.nih.gov/medgen/355447	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011230	http://purl.obolibrary.org/obo/MONDO_0011230	NANDO:1200371	後縦靱帯骨化症	Ossification of posterior longitudinal ligament
C2748504	MedGen UID:440560	Chronic thromboembolic pulmonary hypertension	http://www.ncbi.nlm.nih.gov/medgen/440560	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013024	http://purl.obolibrary.org/obo/MONDO_0013024	NANDO:1200429	慢性血栓塞栓性肺高血圧症	Chronic thromboembolic pulmonary hypertension
C0238378	MedGen UID:65962	Desquamative interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/65962	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009887	http://purl.obolibrary.org/obo/MONDO_0009887	NANDO:1200422	剥離型間質性肺炎 	Desquamative interstitial pneumonia
C0242770	MedGen UID:116663	Bronchiolitis obliterans organizing pneumonia	http://www.ncbi.nlm.nih.gov/medgen/116663	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015264	http://purl.obolibrary.org/obo/MONDO_0015264	NANDO:1200421	特発性器質化肺炎	Cryptogenic organizing pneumonia
C0566602	MedGen UID:107565	Primary sclerosing cholangitis	http://www.ncbi.nlm.nih.gov/medgen/107565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013433	http://purl.obolibrary.org/obo/MONDO_0013433	NANDO:1200440	原発性硬化性胆管炎	Primary sclerosing cholangitis
C0751674	MedGen UID:148366	Lymphangiomyomatosis	http://www.ncbi.nlm.nih.gov/medgen/148366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011705	http://purl.obolibrary.org/obo/MONDO_0011705	NANDO:1200430	リンパ脈管筋腫症	Lymphangioleiomyomatosis
C0856761	MedGen UID:163632	Budd-Chiari syndrome	http://www.ncbi.nlm.nih.gov/medgen/163632	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010947	http://purl.obolibrary.org/obo/MONDO_0010947	NANDO:1200437	バッド・キアリ症候群	Budd-Chiari syndrome
C1853118	MedGen UID:343974	Severe congenital neutropenia	http://www.ncbi.nlm.nih.gov/medgen/343974	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018542	http://purl.obolibrary.org/obo/MONDO_0018542	NANDO:1200353	重症先天性好中球減少症	Severe congenital neutropenia
C0001627	MedGen UID:7900	Congenital adrenal hyperplasia	http://www.ncbi.nlm.nih.gov/medgen/7900	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018479	http://purl.obolibrary.org/obo/MONDO_0018479	NANDO:1200397	リポイド副腎過形成症	Congenital lipoid adrenal hyperplasia
C0011633	MedGen UID:8331	Dermatomyositis	http://www.ncbi.nlm.nih.gov/medgen/8331	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016367	http://purl.obolibrary.org/obo/MONDO_0016367	NANDO:1200274	皮膚筋炎	Dermatomyositis
C2347126	MedGen UID:389393	Microscopic polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/389393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019124	http://purl.obolibrary.org/obo/MONDO_0019124	NANDO:1200262	顕微鏡的多発血管炎	Microscopic polyangiitis
C0027831	MedGen UID:18013	Neurofibromatosis, type 1	http://www.ncbi.nlm.nih.gov/medgen/18013	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018975	http://purl.obolibrary.org/obo/MONDO_0018975	NANDO:1200226	神経線維腫症I型	Neurofibromatosis type 1
C0031036	MedGen UID:14681	Polyarteritis nodosa	http://www.ncbi.nlm.nih.gov/medgen/14681	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019170	http://purl.obolibrary.org/obo/MONDO_0019170	NANDO:1200261	結節性多発動脈炎	Polyarteritis nodosa
C1112570	MedGen UID:798302	Paraneoplastic pemphigus	http://www.ncbi.nlm.nih.gov/medgen/798302	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018974	http://purl.obolibrary.org/obo/MONDO_0018974	NANDO:1200231	腫瘍随伴性天疱瘡	Paraneoplastic pemphigus
C1262481	MedGen UID:220382	Eosinophilic gastroenteritis	http://www.ncbi.nlm.nih.gov/medgen/220382	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016129	http://purl.obolibrary.org/obo/MONDO_0016129	NANDO:1200457	好酸球性胃腸炎	Eosinophilic gastroenteritis
C1264008	MedGen UID:688249	Cold agglutinin disease	http://www.ncbi.nlm.nih.gov/medgen/688249	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018922	http://purl.obolibrary.org/obo/MONDO_0018922	NANDO:1200307	寒冷凝集素症	Cold agglutinin disease
C1279945	MedGen UID:224822	Acute interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/224822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019203	http://purl.obolibrary.org/obo/MONDO_0019203	NANDO:1200420	急性間質性肺炎	Acute interstitial pneumonia
C3266863	MedGen UID:473805	Inherited susceptibility to mycobacterial diseases	http://www.ncbi.nlm.nih.gov/medgen/473805	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019146	http://purl.obolibrary.org/obo/MONDO_0019146	NANDO:1200359	メンデル遺伝型マイコバクテリア易感染症	Mendelian susceptibility to mycobacterial disease
C3662487	MedGen UID:783641	Catastrophic antiphospholipid syndrome	http://www.ncbi.nlm.nih.gov/medgen/783641	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018737	http://purl.obolibrary.org/obo/MONDO_0018737	NANDO:1200270	劇症型原発性抗リン脂質抗体症候群	Catastrophic antiphospholipid syndrome
C3698354	MedGen UID:785618	Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	http://www.ncbi.nlm.nih.gov/medgen/785618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018554	http://purl.obolibrary.org/obo/MONDO_0018554	NANDO:1200426	肺静脈閉塞症／肺毛細血管腫症	Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis
C4302200	MedGen UID:927869	Congenital central hypothyroidism	http://www.ncbi.nlm.nih.gov/medgen/927869	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016410	http://purl.obolibrary.org/obo/MONDO_0016410	NANDO:1200390	甲状腺刺激ホルモン分泌低下症	Thyroid-stimulating hormone deficiency
C4721555	MedGen UID:1666753	Autoimmune hepatitis	http://www.ncbi.nlm.nih.gov/medgen/1666753	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016264	http://purl.obolibrary.org/obo/MONDO_0016264	NANDO:1200441	自己免疫性肝炎	Autoimmune hepatitis
C0079298	MedGen UID:86896	Epidermolysis bullosa simplex	http://www.ncbi.nlm.nih.gov/medgen/86896	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017610	http://purl.obolibrary.org/obo/MONDO_0017610	NANDO:1200235	単純型表皮水疱症	Epidermolysis bullosa simplex
C0079301	MedGen UID:86898	Junctional epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/86898	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017612	http://purl.obolibrary.org/obo/MONDO_0017612	NANDO:1200236	接合部型表皮水疱症	Junctional epidermolysis bullosa
C0085253	MedGen UID:39007	Adult-onset Still disease	http://www.ncbi.nlm.nih.gov/medgen/39007	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019355	http://purl.obolibrary.org/obo/MONDO_0019355	NANDO:1200282	成人発症スチル病	Adult-onset Still disease
C0085655	MedGen UID:39086	Polymyositis	http://www.ncbi.nlm.nih.gov/medgen/39086	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019127	http://purl.obolibrary.org/obo/MONDO_0019127	NANDO:1200276	多発性筋炎	Polymyositis
C0342543	MedGen UID:90985	Central precocious puberty	http://www.ncbi.nlm.nih.gov/medgen/90985	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019165	http://purl.obolibrary.org/obo/MONDO_0019165	NANDO:1200381	中枢性思春期早発症	Central precocious puberty
C0342881	MedGen UID:575266	Homozygous familial hypercholesterolemia	http://www.ncbi.nlm.nih.gov/medgen/575266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018328	http://purl.obolibrary.org/obo/MONDO_0018328	NANDO:1200394	家族性高コレステロール血症ホモ接合体	Homozygous familial hypercholesterolemia
C3887645	MedGen UID:854488	Hyper-IgE syndrome	http://www.ncbi.nlm.nih.gov/medgen/854488	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018037	http://purl.obolibrary.org/obo/MONDO_0018037	NANDO:1200340	高IgE症候群	Hyper-IgE syndrome
C0032453	MedGen UID:45995	Relapsing polychondritis	http://www.ncbi.nlm.nih.gov/medgen/45995	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019125	http://purl.obolibrary.org/obo/MONDO_0019125	NANDO:1200283	再発性多発軟骨炎	Relapsing polychondritis
C0034155	MedGen UID:48266	Thrombotic thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/48266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018896	http://purl.obolibrary.org/obo/MONDO_0018896	NANDO:1200316	血栓性血小板減少性紫斑病	Thrombotic thrombocytopenic purpura
C0035334	MedGen UID:20551	Retinitis pigmentosa	http://www.ncbi.nlm.nih.gov/medgen/20551	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019200	http://purl.obolibrary.org/obo/MONDO_0019200	NANDO:1200431	網膜色素変性症	Retinitis pigmentosa
C0036202	MedGen UID:48554	Sarcoidosis	http://www.ncbi.nlm.nih.gov/medgen/48554	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019338	http://purl.obolibrary.org/obo/MONDO_0019338	NANDO:1200415	サルコイドーシス	Sarcoidosis
C0038325	MedGen UID:20955	Stevens-Johnson syndrome	http://www.ncbi.nlm.nih.gov/medgen/20955	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018229	http://purl.obolibrary.org/obo/MONDO_0018229	NANDO:1200245	スティーヴンス・ジョンソン症候群	Stevens-Johnson syndrome
C0039263	MedGen UID:21458	Takayasu arteritis	http://www.ncbi.nlm.nih.gov/medgen/21458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017991	http://purl.obolibrary.org/obo/MONDO_0017991	NANDO:1200251	高安動脈炎	Takayasu arteritis
C0271623	MedGen UID:82883	Hypogonadotropic hypogonadism	http://www.ncbi.nlm.nih.gov/medgen/82883	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018555	http://purl.obolibrary.org/obo/MONDO_0018555	NANDO:1200388	ゴナドトロピン分泌低下症	Hypogonadotropic hypogonadism
C0272126	MedGen UID:75773	Evans syndrome	http://www.ncbi.nlm.nih.gov/medgen/75773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016030	http://purl.obolibrary.org/obo/MONDO_0016030	NANDO:1200310	エヴァンズ症候群	Evans syndrome
C0272187	MedGen UID:124419	Leukocyte adhesion deficiency	http://www.ncbi.nlm.nih.gov/medgen/124419	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017570	http://purl.obolibrary.org/obo/MONDO_0017570	NANDO:1200355	白血球接着不全症	Leukocyte adhesion deficiency
C0018203	MedGen UID:5377	Chronic granulomatous disease	http://www.ncbi.nlm.nih.gov/medgen/5377	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018305	http://purl.obolibrary.org/obo/MONDO_0018305	NANDO:1200357	慢性肉芽腫症	Chronic granulomatous disease
C0238062	MedGen UID:536759	Chronic intestinal pseudoobstruction	http://www.ncbi.nlm.nih.gov/medgen/536759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017574	http://purl.obolibrary.org/obo/MONDO_0017574	NANDO:1200458	慢性特発性偽性腸閉塞症	Chronic idiopathic intestinal pseudo-obstruction
C0263312	MedGen UID:537812	Pemphigus erythematosus	http://www.ncbi.nlm.nih.gov/medgen/537812	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019323	http://purl.obolibrary.org/obo/MONDO_0019323	NANDO:1200233	紅斑性天疱瘡	Pemphigus erythematosus
C0263313	MedGen UID:75513	Pemphigus foliaceus	http://www.ncbi.nlm.nih.gov/medgen/75513	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019324	http://purl.obolibrary.org/obo/MONDO_0019324	NANDO:1200230	落葉状天疱瘡	Pemphigus foliaceus
C0263316	MedGen UID:537814	Pemphigus vegetans	http://www.ncbi.nlm.nih.gov/medgen/537814	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019322	http://purl.obolibrary.org/obo/MONDO_0019322	NANDO:1200232	増殖性天疱瘡	Pemphigus vegetans
C5680014	MedGen UID:1826142	Eosinophilic gastrointestinal disease	http://www.ncbi.nlm.nih.gov/medgen/1826142	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018438	http://purl.obolibrary.org/obo/MONDO_0018438	NANDO:1200454	好酸球性消化管疾患	Eosinophilic gastrointestinal disorders
C5680885	MedGen UID:1843079	Non-familial restrictive cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/1843079	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016345	http://purl.obolibrary.org/obo/MONDO_0016345	NANDO:1200294	二次性拘束型心筋症	Secondary restrictive cardiomyopathy
CN301239	MedGen UID:985772	Autoimmune lymphoproliferative syndrome	http://www.ncbi.nlm.nih.gov/medgen/985772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017979	http://purl.obolibrary.org/obo/MONDO_0017979	NANDO:1200352	自己免疫性リンパ増殖症候群	Autoimmune lymphoproliferative syndrome
C1832466	MedGen UID:318633	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	http://www.ncbi.nlm.nih.gov/medgen/318633	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011038	http://purl.obolibrary.org/obo/MONDO_0011038	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
C1832855	MedGen UID:371427	Dystonia 9	http://www.ncbi.nlm.nih.gov/medgen/371427	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010983	http://purl.obolibrary.org/obo/MONDO_0010983	NANDO:1200520	DYT9ジストニア	Dystonia 9
C0175709	MedGen UID:104495	Centronuclear myopathy	http://www.ncbi.nlm.nih.gov/medgen/104495	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018947	http://purl.obolibrary.org/obo/MONDO_0018947	NANDO:1200482	中心核ミオパチー	Centronuclear myopathy
C0206157	MedGen UID:61528	Nemaline myopathy	http://www.ncbi.nlm.nih.gov/medgen/61528	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018958	http://purl.obolibrary.org/obo/MONDO_0018958	NANDO:1200478	ネマリンミオパチー	Nemaline myopathy
C0409818	MedGen UID:98370	Chronic infantile neurological, cutaneous and articular syndrome	http://www.ncbi.nlm.nih.gov/medgen/98370	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011776	http://purl.obolibrary.org/obo/MONDO_0011776	NANDO:1200468	慢性乳児神経皮膚関節症候群	Chronic infantile neurological cutaneous articular syndrome
C0410189	MedGen UID:96078	Emery-Dreifuss muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/96078	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016830	http://purl.obolibrary.org/obo/MONDO_0016830	NANDO:1200492	エメリー・ドレイフス型筋ジストロフィー	Emery-Dreifuss muscular dystrophy
C1970149	MedGen UID:370188	Paroxysmal nonkinesigenic dyskinesia 2	http://www.ncbi.nlm.nih.gov/medgen/370188	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012629	http://purl.obolibrary.org/obo/MONDO_0012629	NANDO:1200533	DYT20ジストニア	Dystonia 20
C1970238	MedGen UID:410022	Episodic kinesigenic dyskinesia 2	http://www.ncbi.nlm.nih.gov/medgen/410022	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012603	http://purl.obolibrary.org/obo/MONDO_0012603	NANDO:1200532	DYT19ジストニア	Dystonia 19
C2316212	MedGen UID:412215	Cryopyrin associated periodic syndrome	http://www.ncbi.nlm.nih.gov/medgen/412215	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016168	http://purl.obolibrary.org/obo/MONDO_0016168	NANDO:1200465	クリオピリン関連周期熱症候群	Cryopyrin-associated periodic syndrome
C2676281	MedGen UID:391003	Torsion dystonia 17	http://www.ncbi.nlm.nih.gov/medgen/391003	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012895	http://purl.obolibrary.org/obo/MONDO_0012895	NANDO:1200530	DYT17ジストニア	Dystonia 17
C2677567	MedGen UID:436979	Dystonia 16	http://www.ncbi.nlm.nih.gov/medgen/436979	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012789	http://purl.obolibrary.org/obo/MONDO_0012789	NANDO:1200529	DYT16ジストニア	Dystonia 16
C2931788	MedGen UID:444141	Atypical hemolytic-uremic syndrome	http://www.ncbi.nlm.nih.gov/medgen/444141	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016244	http://purl.obolibrary.org/obo/MONDO_0016244	NANDO:1200473	非典型溶血性尿毒症症候群	Atypical hemolytic uremic syndrome
C2931826	MedGen UID:444151	Potassium-aggravated myotonia	http://www.ncbi.nlm.nih.gov/medgen/444151	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018959	http://purl.obolibrary.org/obo/MONDO_0018959	NANDO:1200500	ナトリウムチャネルミオトニー	Sodium channel myotonia
C2938918	MedGen UID:1371500	Superficial siderosis	http://www.ncbi.nlm.nih.gov/medgen/1371500	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016594	http://purl.obolibrary.org/obo/MONDO_0016594	NANDO:1200543	脳表ヘモジデリン沈着症	Superficial siderosis
C0027126	MedGen UID:10239	Myotonic dystrophy	http://www.ncbi.nlm.nih.gov/medgen/10239	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016107	http://purl.obolibrary.org/obo/MONDO_0016107	NANDO:1200495	筋強直性ジストロフィー	Myotonic dystrophy
C0270962	MedGen UID:75731	Multiminicore myopathy	http://www.ncbi.nlm.nih.gov/medgen/75731	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018948	http://purl.obolibrary.org/obo/MONDO_0018948	NANDO:1200480	ミニコア病	Minicore myopathy
C0546264	MedGen UID:108177	Congenital myopathy with fiber type disproportion	http://www.ncbi.nlm.nih.gov/medgen/108177	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009711	http://purl.obolibrary.org/obo/MONDO_0009711	NANDO:1200483	先天性筋線維タイプ不均等症	Congenital fiber-type disproportion myopathy
C1275081	MedGen UID:266149	Cardio-facio-cutaneous syndrome	http://www.ncbi.nlm.nih.gov/medgen/266149	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015280	http://purl.obolibrary.org/obo/MONDO_0015280	NANDO:1200462	CFC症候群	CFC Syndrome
C3280371	MedGen UID:482001	Neurodegeneration with brain iron accumulation 4	http://www.ncbi.nlm.nih.gov/medgen/482001	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013674	http://purl.obolibrary.org/obo/MONDO_0013674	NANDO:1200540	脳内鉄沈着神経変性症4型	Neurodegeneration with brain iron accumulation type 4
C3495559	MedGen UID:760659	Juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/760659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011429	http://purl.obolibrary.org/obo/MONDO_0011429	NANDO:1200469	若年性特発性関節炎	Juvenile idiopathic arthritis
C3668943	MedGen UID:777150	Fatty acid hydroxylase-associated neurodegeneration	http://www.ncbi.nlm.nih.gov/medgen/777150	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017999	http://purl.obolibrary.org/obo/MONDO_0017999	NANDO:1200541	FAHN	Fatty acid hydroxylase-associated neurodegeneration
C0338451	MedGen UID:83266	Frontotemporal dementia	http://www.ncbi.nlm.nih.gov/medgen/83266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017276	http://purl.obolibrary.org/obo/MONDO_0017276	NANDO:1200548	前頭側頭葉変性症	Frontotemporal lobar degeneration
C0338488	MedGen UID:90925	Alternating hemiplegia of childhood	http://www.ncbi.nlm.nih.gov/medgen/90925	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016241	http://purl.obolibrary.org/obo/MONDO_0016241	NANDO:1200525	小児交互性片麻痺	Alternating hemiplegia of childhood
C0343068	MedGen UID:137986	Familial cold autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/137986	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018768	http://purl.obolibrary.org/obo/MONDO_0018768	NANDO:1200466	家族性寒冷蕁麻疹	Familial cold autoinflammatorysyndrome
C0686353	MedGen UID:151940	Limb-girdle muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/151940	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016971	http://purl.obolibrary.org/obo/MONDO_0016971	NANDO:1200490	肢帯型筋ジストロフィー	Limb-girdle muscular dystrophy
C1414216	MedGen UID:236274	Torsion dystonia 6	http://www.ncbi.nlm.nih.gov/medgen/236274	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011264	http://purl.obolibrary.org/obo/MONDO_0011264	NANDO:1200517	DYT6ジストニア	Dystonia 6 
C1838577	MedGen UID:325051	CARASIL syndrome	http://www.ncbi.nlm.nih.gov/medgen/325051	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010829	http://purl.obolibrary.org/obo/MONDO_0010829	NANDO:1200544	HTRA1関連脳小血管病	HTRA1-Related Cerebral Small Vessel Disease
C1839130	MedGen UID:326820	X-linked dystonia-parkinsonism	http://www.ncbi.nlm.nih.gov/medgen/326820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010747	http://purl.obolibrary.org/obo/MONDO_0010747	NANDO:1200514	DYT3ジストニア	Dystonia 3
C1842534	MedGen UID:330866	Childhood onset GLUT1 deficiency syndrome 2	http://www.ncbi.nlm.nih.gov/medgen/330866	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012805	http://purl.obolibrary.org/obo/MONDO_0012805	NANDO:1200531	DYT18ジストニア	Dystonia 18
C1843264	MedGen UID:335918	Torsion dystonia 13	http://www.ncbi.nlm.nih.gov/medgen/335918	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011886	http://purl.obolibrary.org/obo/MONDO_0011886	NANDO:1200527	DYT13ジストニア	Dystonia 13
C1843786	MedGen UID:334492	Myoclonic dystonia 15	http://www.ncbi.nlm.nih.gov/medgen/334492	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011844	http://purl.obolibrary.org/obo/MONDO_0011844	NANDO:1200528	DYT15ジストニア	Dystonia 15
C4011788	MedGen UID:860225	Behavioral variant of frontotemporal dementia	http://www.ncbi.nlm.nih.gov/medgen/860225	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017160	http://purl.obolibrary.org/obo/MONDO_0017160	NANDO:1200549	（行動異常型）前頭側頭型認知症	Behavioral variant frontotemporal dementia
C5568621	MedGen UID:1800044	Atypical pantothenate kinase-associated neurodegeneration	http://www.ncbi.nlm.nih.gov/medgen/1800044	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016305	http://purl.obolibrary.org/obo/MONDO_0016305	NANDO:1200536	パントテン酸キナーゼ変異に伴う神経変性症（非典型例）	Atypical pantothenate kinase-associated neurodegeneration
C0035934	MedGen UID:48517	Rubinstein-Taybi syndrome	http://www.ncbi.nlm.nih.gov/medgen/48517	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019188	http://purl.obolibrary.org/obo/MONDO_0019188	NANDO:1200461	ルビンシュタイン・テイビ症候群	Rubinstein-Taybi syndrome
C0039144	MedGen UID:21449	Syringomyelia	http://www.ncbi.nlm.nih.gov/medgen/21449	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017987	http://purl.obolibrary.org/obo/MONDO_0017987	NANDO:1200506	脊髄空洞症	Syringomyelia
C1865818	MedGen UID:355560	Torsion dystonia 7	http://www.ncbi.nlm.nih.gov/medgen/355560	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011200	http://purl.obolibrary.org/obo/MONDO_0011200	NANDO:1200518	DYT7ジストニア	Dystonia 7
C0013264	MedGen UID:3925	Duchenne muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/3925	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010679	http://purl.obolibrary.org/obo/MONDO_0010679	NANDO:1200488	デュシェンヌ型筋ジストロフィー	Duchenne muscular dystrophy
C0751360	MedGen UID:155852	Congenital myotonia, autosomal recessive form	http://www.ncbi.nlm.nih.gov/medgen/155852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009715	http://purl.obolibrary.org/obo/MONDO_0009715	NANDO:1200499	ベッカー病	Becker disease
C0917713	MedGen UID:182959	Becker muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/182959	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010311	http://purl.obolibrary.org/obo/MONDO_0010311	NANDO:1200489	ベッカー型筋ジストロフィー	Becker muscular dystrophy
C5679787	MedGen UID:1826053	Qualitative or quantitative defects of dystrophin	http://www.ncbi.nlm.nih.gov/medgen/1826053	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016147	http://purl.obolibrary.org/obo/MONDO_0016147	NANDO:1200487	ジストロフィン異常症	Dystrophinopathies
C5679812	MedGen UID:1826057	Classic pantothenate kinase-associated neurodegeneration	http://www.ncbi.nlm.nih.gov/medgen/1826057	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016304	http://purl.obolibrary.org/obo/MONDO_0016304	NANDO:1200535	パントテン酸キナーゼ変異に伴う神経変性症（古典型）	Classic pantothenate kinase-associated neurodegeneration
CN221588	MedGen UID:808180	Dopa-responsive dystonia	http://www.ncbi.nlm.nih.gov/medgen/808180	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016812	http://purl.obolibrary.org/obo/MONDO_0016812	NANDO:1200516	DYT5aジストニア	Dystonia 5a
CN311573	MedGen UID:992104	Thomsen and Becker disease	http://www.ncbi.nlm.nih.gov/medgen/992104	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009710	http://purl.obolibrary.org/obo/MONDO_0009710	NANDO:1200497	先天性ミオトニー	Myotonia congenita
C1846386	MedGen UID:375876	Isolated focal cortical dysplasia type IIa	http://www.ncbi.nlm.nih.gov/medgen/375876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017101	http://purl.obolibrary.org/obo/MONDO_0017101	NANDO:1200568	限局性皮質異形成タイプ2a	Focal cortical dysplasia type 2a
C1848137	MedGen UID:338393	Developmental and epileptic encephalopathy, 9	http://www.ncbi.nlm.nih.gov/medgen/338393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010246	http://purl.obolibrary.org/obo/MONDO_0010246	NANDO:1200599	PCDH19関連症候群	PCDH19-related syndrome
C0175713	MedGen UID:61236	Aicardi syndrome	http://www.ncbi.nlm.nih.gov/medgen/61236	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010568	http://purl.obolibrary.org/obo/MONDO_0010568	NANDO:1200562	アイカルディ症候群	Aicardi syndrome
C0205711	MedGen UID:61440	Pelizaeus-Merzbacher disease	http://www.ncbi.nlm.nih.gov/medgen/61440	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010714	http://purl.obolibrary.org/obo/MONDO_0010714	NANDO:1200576	ペリツェウス・メルツバッハ病	Pelizaeus-Merzbacher disease
C2676243	MedGen UID:390993	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	http://www.ncbi.nlm.nih.gov/medgen/390993	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011897	http://purl.obolibrary.org/obo/MONDO_0011897	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
C2676244	MedGen UID:436642	Hypomyelinating leukodystrophy 6	http://www.ncbi.nlm.nih.gov/medgen/436642	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012905	http://purl.obolibrary.org/obo/MONDO_0012905	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
C2677109	MedGen UID:383026	Hypomyelinating leukodystrophy 4	http://www.ncbi.nlm.nih.gov/medgen/383026	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012824	http://purl.obolibrary.org/obo/MONDO_0012824	NANDO:1200581	HSP60シャペロン病	Mitochondrial Hsp60 chaperonopathy
C5848247	MedGen UID:1852191	Lamellar ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1852191	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017778	http://purl.obolibrary.org/obo/MONDO_0017778	NANDO:1200617	葉状魚鱗癬	Lamellar ichthyosis
C0023520	MedGen UID:6070	Leukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6070	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019046	http://purl.obolibrary.org/obo/MONDO_0019046	NANDO:1200575	先天性大脳白質形成不全症	Congenital hypomyelinating leukodystrophy
C0266463	MedGen UID:78604	Lissencephaly	http://www.ncbi.nlm.nih.gov/medgen/78604	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018838	http://purl.obolibrary.org/obo/MONDO_0018838	NANDO:1200574	神経細胞移動異常症	Neuronal migration defects
C0432443	MedGen UID:96605	Deletion of long arm of chromosome 18	http://www.ncbi.nlm.nih.gov/medgen/96605	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011147	http://purl.obolibrary.org/obo/MONDO_0011147	NANDO:1200579	18q欠失症候群	18q-syndrome
C1096903	MedGen UID:203368	Salla disease	http://www.ncbi.nlm.nih.gov/medgen/203368	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011449	http://purl.obolibrary.org/obo/MONDO_0011449	NANDO:1200582	サラ病	Salla disease
C1274215	MedGen UID:697564	Autosomal recessive congenital ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/697564	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017265	http://purl.obolibrary.org/obo/MONDO_0017265	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
C3494976	MedGen UID:782160	Malignant migrating partial seizures of infancy	http://www.ncbi.nlm.nih.gov/medgen/782160	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017385	http://purl.obolibrary.org/obo/MONDO_0017385	NANDO:1200595	遊走性焦点発作を伴う乳児てんかん	Epilepsy of infancy with migrating focal seizures
C4274084	MedGen UID:894734	Pelizaeus Merzbacher like disease	http://www.ncbi.nlm.nih.gov/medgen/894734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017226	http://purl.obolibrary.org/obo/MONDO_0017226	NANDO:1200577	ペリツェウス・メルツバッハ様病１	Pelizaeus-Merzbacher like disease
C4707658	MedGen UID:1645136	Acute encephalopathy with biphasic seizures and late reduced diffusion	http://www.ncbi.nlm.nih.gov/medgen/1645136	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018198	http://purl.obolibrary.org/obo/MONDO_0018198	NANDO:1200552	痙攣重積型（二相性）急性脳症	Acute encephalopathy with biphasic seizures and late reduced diffusion
C4707795	MedGen UID:1645432	Isolated focal cortical dysplasia	http://www.ncbi.nlm.nih.gov/medgen/1645432	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019009	http://purl.obolibrary.org/obo/MONDO_0019009	NANDO:1200564	限局性皮質異形成	Focal cortical dysplasia
C0338462	MedGen UID:83268	Semantic dementia	http://www.ncbi.nlm.nih.gov/medgen/83268	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010857	http://purl.obolibrary.org/obo/MONDO_0010857	NANDO:1200550	意味性認知症	Semantic dementia
C1836727	MedGen UID:373160	PCWH syndrome	http://www.ncbi.nlm.nih.gov/medgen/373160	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012198	http://purl.obolibrary.org/obo/MONDO_0012198	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
C0035372	MedGen UID:48441	Rett syndrome	http://www.ncbi.nlm.nih.gov/medgen/48441	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010726	http://purl.obolibrary.org/obo/MONDO_0010726	NANDO:1200603	レット症候群	Rett syndrome
C0037769	MedGen UID:11519	West syndrome	http://www.ncbi.nlm.nih.gov/medgen/11519	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018097	http://purl.obolibrary.org/obo/MONDO_0018097	NANDO:1200592	ウエスト症候群	West syndrome
C1864663	MedGen UID:501134	Hypomyelination and Congenital Cataract	http://www.ncbi.nlm.nih.gov/medgen/501134	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012514	http://purl.obolibrary.org/obo/MONDO_0012514	NANDO:1200584	先天性白内障を伴う髄鞘形成不全症	Hypomyelination and congenital cataract
C2748910	MedGen UID:440664	Atypical Rett syndrome	http://www.ncbi.nlm.nih.gov/medgen/440664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017746	http://purl.obolibrary.org/obo/MONDO_0017746	NANDO:1200605	非典型的レット症候群	Atypical Rett syndrome
C2930868	MedGen UID:418934	Rasmussen subacute encephalitis	http://www.ncbi.nlm.nih.gov/medgen/418934	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016019	http://purl.obolibrary.org/obo/MONDO_0016019	NANDO:1200598	ラスムッセン脳炎	Rasmussen's encephalitis
C4511307	MedGen UID:1393111	Keratinopathic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1393111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017266	http://purl.obolibrary.org/obo/MONDO_0017266	NANDO:1200610	ケラチン症性魚鱗癬	Keratinopathic ichthyosis
C0020074	MedGen UID:6915	Hereditary insensitivity to pain with anhidrosis	http://www.ncbi.nlm.nih.gov/medgen/6915	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009746	http://purl.obolibrary.org/obo/MONDO_0009746	NANDO:1200553	先天性無痛無汗症	Congenital insensitivity to pain with anhidrosis
C0238111	MedGen UID:116044	Lennox-Gastaut syndrome	http://www.ncbi.nlm.nih.gov/medgen/116044	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016532	http://purl.obolibrary.org/obo/MONDO_0016532	NANDO:1200591	レノックス・ガストー症候群	Lennox-Gastaut syndrome
C0265482	MedGen UID:489853	Ring chromosome 20 syndrome	http://www.ncbi.nlm.nih.gov/medgen/489853	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015436	http://purl.obolibrary.org/obo/MONDO_0015436	NANDO:1200597	環状20番染色体症候群	Ring chromosome 20 syndrome
C0795889	MedGen UID:208645	Allan-Herndon-Dudley syndrome	http://www.ncbi.nlm.nih.gov/medgen/208645	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010354	http://purl.obolibrary.org/obo/MONDO_0010354	NANDO:1200580	アラン・ハーンドン・タドリー症候群	Allan-Herndon-Dudley syndrome
C0856562	MedGen UID:797407	Inherited ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/797407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015947	http://purl.obolibrary.org/obo/MONDO_0015947	NANDO:1200609	先天性魚鱗癬	Congenital ichthyosis
C4049262	MedGen UID:1381987	Febrile infection-related epilepsy syndrome	http://www.ncbi.nlm.nih.gov/medgen/1381987	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015584	http://purl.obolibrary.org/obo/MONDO_0015584	NANDO:1200600	難治頻回部分発作重積型急性脳炎	Acute encephalitis with refractory, repetitive partial seizures
C5679765	MedGen UID:1842666	Isolated focal cortical dysplasia type Ib	http://www.ncbi.nlm.nih.gov/medgen/1842666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017097	http://purl.obolibrary.org/obo/MONDO_0017097	NANDO:1200566	限局性皮質異形成タイプ1b	Focal cortical dysplasia type 1b
C5679767	MedGen UID:1843115	Isolated focal cortical dysplasia type Ia	http://www.ncbi.nlm.nih.gov/medgen/1843115	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017096	http://purl.obolibrary.org/obo/MONDO_0017096	NANDO:1200565	限局性皮質異形成タイプ1a	Focal cortical dysplasia type 1a
C5679768	MedGen UID:1842232	Isolated focal cortical dysplasia type IIb	http://www.ncbi.nlm.nih.gov/medgen/1842232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017102	http://purl.obolibrary.org/obo/MONDO_0017102	NANDO:1200569	限局性皮質異形成タイプ2b	Focal cortical dysplasia type 2b
C5679914	MedGen UID:1842714	Alexander disease type II	http://www.ncbi.nlm.nih.gov/medgen/1842714	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018210	http://purl.obolibrary.org/obo/MONDO_0018210	NANDO:1200556	延髄・脊髄優位型アレキサンダー病	Alexander disease type II
C5679915	MedGen UID:1842668	Alexander disease type I	http://www.ncbi.nlm.nih.gov/medgen/1842668	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018209	http://purl.obolibrary.org/obo/MONDO_0018209	NANDO:1200555	大脳優位型アレキサンダー病	Alexander disease type I
C0079154	MedGen UID:38180	Congenital nonbullous ichthyosiform erythroderma	http://www.ncbi.nlm.nih.gov/medgen/38180	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019306	http://purl.obolibrary.org/obo/MONDO_0019306	NANDO:1200616	先天性魚鱗癬様紅皮症	Congenital ichthyosiform erythroderma
C1960543	MedGen UID:743311	Bickerstaff brainstem encephalitis	http://www.ncbi.nlm.nih.gov/medgen/743311	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019208	http://purl.obolibrary.org/obo/MONDO_0019208	NANDO:1200551	ビッカースタッフ脳幹脳炎	Bickerstaff's brainstem encephalitis
C2931171	MedGen UID:443993	Oligoarticular juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/443993	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019433	http://purl.obolibrary.org/obo/MONDO_0019433	NANDO:1200471	関節型若年性特発性関節炎	Articular-type juvenile idiopathic arthritis
C0242287	MedGen UID:116151	Isaac syndrome	http://www.ncbi.nlm.nih.gov/medgen/116151	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019399	http://purl.obolibrary.org/obo/MONDO_0019399	NANDO:1200510	アイザックス症候群	Isaacs syndrome
C1849678	MedGen UID:376636	Acyl-CoA oxidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/376636	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009919	http://purl.obolibrary.org/obo/MONDO_0009919	NANDO:1200765	アシル CoA オキシダーゼ欠損症 	Peroxisomal acyl-CoA oxidase deficiency
C0022716	MedGen UID:44030	Menkes kinky-hair syndrome	http://www.ncbi.nlm.nih.gov/medgen/44030	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010651	http://purl.obolibrary.org/obo/MONDO_0010651	NANDO:1200653	メンケス病	Menkes disease
C0031485	MedGen UID:19244	Phenylketonuria	http://www.ncbi.nlm.nih.gov/medgen/19244	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	NANDO:1200784	フェニルケトン尿症	Phenylketonuria
C0031880	MedGen UID:18472	Extreme obesity with alveolar hypoventilation	http://www.ncbi.nlm.nih.gov/medgen/18472	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009763	http://purl.obolibrary.org/obo/MONDO_0009763	NANDO:1200752	肥満低換気症候群	Obesity hypoventilation syndrome
C0268164	MedGen UID:75658	Primary hyperoxaluria, type I	http://www.ncbi.nlm.nih.gov/medgen/75658	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009823	http://purl.obolibrary.org/obo/MONDO_0009823	NANDO:1200773	原発性高シュウ酸尿症I型	Primary hyperoxaluria type 1
C0268238	MedGen UID:82780	Triglyceride storage disease with ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/82780	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010155	http://purl.obolibrary.org/obo/MONDO_0010155	NANDO:1200622	ドルフマン・シャナリン症候群	Dorfman-Chanarin syndrome
C0268353	MedGen UID:82793	Cutis laxa, X-linked	http://www.ncbi.nlm.nih.gov/medgen/82793	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010572	http://purl.obolibrary.org/obo/MONDO_0010572	NANDO:1200654	オクシピタル・ホーン症候群	Occipital horn syndrome
C0268490	MedGen UID:75688	Tyrosinemia type I	http://www.ncbi.nlm.nih.gov/medgen/75688	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010161	http://purl.obolibrary.org/obo/MONDO_0010161	NANDO:1200788	高チロシン血症1型	Tyrosinemia type 1
C0268689	MedGen UID:124344	Vitamin D-dependent rickets, type 1	http://www.ncbi.nlm.nih.gov/medgen/124344	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009924	http://purl.obolibrary.org/obo/MONDO_0009924	NANDO:1200782	ビタミンD依存症1型	Vitamin D-dependent rickets, type 1
C1863557	MedGen UID:350209	Blepharophimosis - intellectual disability syndrome, SBBYS type	http://www.ncbi.nlm.nih.gov/medgen/350209	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011365	http://purl.obolibrary.org/obo/MONDO_0011365	NANDO:1200681	ヤング・シンプソン症候群	Young-Simpson syndrome
C0079588	MedGen UID:86937	X-linked ichthyosis with steryl-sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/86937	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010622	http://purl.obolibrary.org/obo/MONDO_0010622	NANDO:1200625	X連鎖性劣性魚鱗癬症候群	Recessive X-linked ichtyosis
C0342870	MedGen UID:137982	Bifunctional peroxisomal enzyme deficiency	http://www.ncbi.nlm.nih.gov/medgen/137982	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009855	http://purl.obolibrary.org/obo/MONDO_0009855	NANDO:1200766	D-二頭酵素欠損症	D-bifunctional protein deficiency
C0344975	MedGen UID:87491	Pulmonary atresia with intact ventricular septum	http://www.ncbi.nlm.nih.gov/medgen/87491	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009931	http://purl.obolibrary.org/obo/MONDO_0009931	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
C1838612	MedGen UID:374012	Rhizomelic chondrodysplasia punctata type 3	http://www.ncbi.nlm.nih.gov/medgen/374012	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010823	http://purl.obolibrary.org/obo/MONDO_0010823	NANDO:1200772	根性点状軟骨異形成症3型	Rhizomelic chondrodysplasia punctata type 3
C1839780	MedGen UID:333403	Fragile X-associated tremor/ataxia syndrome	http://www.ncbi.nlm.nih.gov/medgen/333403	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010382	http://purl.obolibrary.org/obo/MONDO_0010382	NANDO:1200691	脆弱 X 随伴振戦/失調症候群	Fragile X tremor/ataxia syndrome
C1842870	MedGen UID:334629	Chromosome 1p36 deletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/334629	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011929	http://purl.obolibrary.org/obo/MONDO_0011929	NANDO:1200682	1ｐ36欠失症候群	1p36 deletion syndrome
C1845055	MedGen UID:337145	Alpha thalassemia-X-linked intellectual disability syndrome	http://www.ncbi.nlm.nih.gov/medgen/337145	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010519	http://purl.obolibrary.org/obo/MONDO_0010519	NANDO:1200665	ATR-X症候群	ATR-X syndrome
C0032339	MedGen UID:10819	Rothmund-Thomson syndrome	http://www.ncbi.nlm.nih.gov/medgen/10819	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010002	http://purl.obolibrary.org/obo/MONDO_0010002	NANDO:1200671	ロスムンド・トムソン症候群	Rothmund-Thomson syndrome
C0034960	MedGen UID:11161	Phytanic acid storage disease	http://www.ncbi.nlm.nih.gov/medgen/11161	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009958	http://purl.obolibrary.org/obo/MONDO_0009958	NANDO:1200769	レフサム病	Refsum disease
C0037231	MedGen UID:11443	Sjögren-Larsson syndrome	http://www.ncbi.nlm.nih.gov/medgen/11443	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010031	http://purl.obolibrary.org/obo/MONDO_0010031	NANDO:1200620	シェーグレン・ラルソン症候群	Sjögren-Larsson syndrome
C0043119	MedGen UID:12147	Werner syndrome	http://www.ncbi.nlm.nih.gov/medgen/12147	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010196	http://purl.obolibrary.org/obo/MONDO_0010196	NANDO:1200676	ウェルナー症候群	Werner syndrome
C0016667	MedGen UID:8912	Fragile X syndrome	http://www.ncbi.nlm.nih.gov/medgen/8912	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010383	http://purl.obolibrary.org/obo/MONDO_0010383	NANDO:1200692	脆弱X症候群	Fragile X syndrome
C0019202	MedGen UID:42426	Wilson disease	http://www.ncbi.nlm.nih.gov/medgen/42426	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010200	http://purl.obolibrary.org/obo/MONDO_0010200	NANDO:1200655	ウィルソン病	Wilson disease
C0243002	MedGen UID:67034	Tricuspid atresia	http://www.ncbi.nlm.nih.gov/medgen/67034	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011514	http://purl.obolibrary.org/obo/MONDO_0011514	NANDO:1200706	三尖弁閉鎖症	Tricuspid atresia
C0265210	MedGen UID:120511	Weaver syndrome	http://www.ncbi.nlm.nih.gov/medgen/120511	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010193	http://purl.obolibrary.org/obo/MONDO_0010193	NANDO:1200659	ウィーバー症候群	Weaver syndrome
C0265252	MedGen UID:75556	Coffin-Lowry syndrome	http://www.ncbi.nlm.nih.gov/medgen/75556	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010561	http://purl.obolibrary.org/obo/MONDO_0010561	NANDO:1200660	コフィン・ローリー症候群	Coffin-Lowry syndrome
C5680251	MedGen UID:1843450	Paternal uniparental disomy of chromosome 14	http://www.ncbi.nlm.nih.gov/medgen/1843450	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011975	http://purl.obolibrary.org/obo/MONDO_0011975	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
C1848552	MedGen UID:341253	Methylmalonic aciduria and homocystinuria type cblD	http://www.ncbi.nlm.nih.gov/medgen/341253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010185	http://purl.obolibrary.org/obo/MONDO_0010185	NANDO:1200797	コバラミン代謝異常 cblD	Methylmalonic acidemia CblD type
C0268487	MedGen UID:75687	Tyrosinemia type II	http://www.ncbi.nlm.nih.gov/medgen/75687	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010160	http://purl.obolibrary.org/obo/MONDO_0010160	NANDO:1200789	高チロシン血症2型	Tyrosinemia type 2
C0268542	MedGen UID:75692	Ornithine carbamoyltransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75692	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010703	http://purl.obolibrary.org/obo/MONDO_0010703	NANDO:1200804	OTC欠損症	Ornithine transcarbamylase deficiency
C0268579	MedGen UID:75694	Propionic acidemia	http://www.ncbi.nlm.nih.gov/medgen/75694	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011628	http://purl.obolibrary.org/obo/MONDO_0011628	NANDO:1200792	プロピオン酸血症	Propionic acidemia
C0268623	MedGen UID:78694	Tyrosinemia type III	http://www.ncbi.nlm.nih.gov/medgen/78694	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010162	http://purl.obolibrary.org/obo/MONDO_0010162	NANDO:1200790	高チロシン血症3型	Tyrosinemia type 3
C1567741	MedGen UID:339209	Alport syndrome	http://www.ncbi.nlm.nih.gov/medgen/339209	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018965	http://purl.obolibrary.org/obo/MONDO_0018965	NANDO:1200712	アルポート症候群	Alport's syndrome
C1832200	MedGen UID:330407	Peroxisome biogenesis disorder	http://www.ncbi.nlm.nih.gov/medgen/330407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019234	http://purl.obolibrary.org/obo/MONDO_0019234	NANDO:1200759	ペルオキシソーム形成異常症	Peroxisome biogenesis disorders
C0006272	MedGen UID:665	Bronchiolitis obliterans with obstructive pulmonary disease	http://www.ncbi.nlm.nih.gov/medgen/665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015265	http://purl.obolibrary.org/obo/MONDO_0015265	NANDO:1200745	閉塞性細気管支炎	Bronchiolitis obliterans
C0009207	MedGen UID:40363	Cockayne syndrome	http://www.ncbi.nlm.nih.gov/medgen/40363	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016006	http://purl.obolibrary.org/obo/MONDO_0016006	NANDO:1200677	コケイン症候群	Cockayne syndrome
C0162283	MedGen UID:57876	Nephrogenic diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/57876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016383	http://purl.obolibrary.org/obo/MONDO_0016383	NANDO:1200742	先天性腎性尿崩症	Congenital nephrogenic diabetes insipidus
C0175695	MedGen UID:61232	Sotos syndrome	http://www.ncbi.nlm.nih.gov/medgen/61232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019349	http://purl.obolibrary.org/obo/MONDO_0019349	NANDO:1200679	ソトス症候群	Sotos syndrome
C0221239	MedGen UID:113155	Rapidly progressive glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/113155	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017236	http://purl.obolibrary.org/obo/MONDO_0017236	NANDO:1200714	急速進行性糸球体腎炎	Rapidly progressive glomerulonephritis
C0221757	MedGen UID:67461	Alpha-1-antitrypsin deficiency	http://www.ncbi.nlm.nih.gov/medgen/67461	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013282	http://purl.obolibrary.org/obo/MONDO_0013282	NANDO:1200755	α1-アンチトリプシン欠損症	Alpha-1-antitrypsin deficiency
C0406810	MedGen UID:140810	Carney complex	http://www.ncbi.nlm.nih.gov/medgen/140810	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015285	http://purl.obolibrary.org/obo/MONDO_0015285	NANDO:1200756	カーニー複合	Carney complex
C1970472	MedGen UID:410079	Autoimmune pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/410079	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012579	http://purl.obolibrary.org/obo/MONDO_0012579	NANDO:1200747	自己免疫性肺胞蛋白症	Autoimmune pulmonary alveolar proteinosis
C0028326	MedGen UID:18073	Noonan syndrome	http://www.ncbi.nlm.nih.gov/medgen/18073	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018997	http://purl.obolibrary.org/obo/MONDO_0018997	NANDO:1200680	ヌーナン症候群	Noonan syndrome
C0029411	MedGen UID:18210	Pachydermoperiostosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/18210	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016620	http://purl.obolibrary.org/obo/MONDO_0016620	NANDO:1200642	肥厚性皮膚骨膜症	Pachydermoperiostosis
C0030804	MedGen UID:10619	Mucous membrane pemphigoid	http://www.ncbi.nlm.nih.gov/medgen/10619	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018746	http://purl.obolibrary.org/obo/MONDO_0018746	NANDO:1200634	粘膜類天疱瘡	Mucous membrane pemphigoid
C0030805	MedGen UID:10620	Bullous pemphigoid	http://www.ncbi.nlm.nih.gov/medgen/10620	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019082	http://purl.obolibrary.org/obo/MONDO_0019082	NANDO:1200633	水疱性類天疱瘡	Bullous pemphigoid
C0268338	MedGen UID:82790	Ehlers-Danlos syndrome, type 4	http://www.ncbi.nlm.nih.gov/medgen/82790	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017314	http://purl.obolibrary.org/obo/MONDO_0017314	NANDO:1200648	血管型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, vascular type
C0398794	MedGen UID:585090	Griscelli syndrome	http://www.ncbi.nlm.nih.gov/medgen/585090	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018306	http://purl.obolibrary.org/obo/MONDO_0018306	NANDO:1200640	グリセリ症候群	Griscelli syndrome
C3496337	MedGen UID:501252	Idiopathic nephrotic syndrome	http://www.ncbi.nlm.nih.gov/medgen/501252	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018170	http://purl.obolibrary.org/obo/MONDO_0018170	NANDO:1200719	一次性ネフローゼ症候群	Primary nephrotic syndrome
C3554330	MedGen UID:767244	Immunoglobulin-mediated membranoproliferative glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/767244	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014005	http://purl.obolibrary.org/obo/MONDO_0014005	NANDO:1200726	一次性膜性増殖性糸球体腎炎I型	Primary membranoproliferative glomerulonephritis type I
C3665333	MedGen UID:777082	Keratitis ichthyosis and deafness syndrome	http://www.ncbi.nlm.nih.gov/medgen/777082	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018781	http://purl.obolibrary.org/obo/MONDO_0018781	NANDO:1200621	KID症候群	Keratitis-ichthyosis-deafness syndrome
C3711368	MedGen UID:777976	Hereditary pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/777976	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012580	http://purl.obolibrary.org/obo/MONDO_0012580	NANDO:1200750	先天性肺胞蛋白症	Congenital alveolar proteinosis
C0079293	MedGen UID:37178	Acquired epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/37178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018747	http://purl.obolibrary.org/obo/MONDO_0018747	NANDO:1200635	後天性表皮水疱症	Epidermolysis bullosa acquisita
C0079504	MedGen UID:36313	Hermansky-Pudlak syndrome	http://www.ncbi.nlm.nih.gov/medgen/36313	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019312	http://purl.obolibrary.org/obo/MONDO_0019312	NANDO:1200638	ヘルマンスキー・パドラック症候群	Hermansky-Pudlak syndrome
C0344616	MedGen UID:87489	Congenitally corrected transposition of the great arteries	http://www.ncbi.nlm.nih.gov/medgen/87489	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016301	http://purl.obolibrary.org/obo/MONDO_0016301	NANDO:1200699	完全大血管転位症	Complete transposition of the great arteries
C0344622	MedGen UID:488862	Double inlet left ventricle	http://www.ncbi.nlm.nih.gov/medgen/488862	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015451	http://purl.obolibrary.org/obo/MONDO_0015451	NANDO:1200704	単心室症	Single ventricle
C1836929	MedGen UID:323030	Emanuel syndrome	http://www.ncbi.nlm.nih.gov/medgen/323030	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012176	http://purl.obolibrary.org/obo/MONDO_0012176	NANDO:1200689	エマヌエル症候群	Emanuel syndrome
C3873302	MedGen UID:845105	Secondary pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/845105	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018483	http://purl.obolibrary.org/obo/MONDO_0018483	NANDO:1200749	続発性肺胞蛋白症	Secondary Pulmonary Alveolar Proteinosis
C0039445	MedGen UID:52657	Hereditary hemorrhagic telangiectasia	http://www.ncbi.nlm.nih.gov/medgen/52657	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019180	http://purl.obolibrary.org/obo/MONDO_0019180	NANDO:1200744	オスラー病	Osler disease
C0041207	MedGen UID:52867	Persistent truncus arteriosus	http://www.ncbi.nlm.nih.gov/medgen/52867	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018072	http://purl.obolibrary.org/obo/MONDO_0018072	NANDO:1200693	総動脈幹遺残症	Truncus arteriosus communis
C0043207	MedGen UID:21923	Wolfram syndrome	http://www.ncbi.nlm.nih.gov/medgen/21923	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018105	http://purl.obolibrary.org/obo/MONDO_0018105	NANDO:1200757	ウォルフラム症候群	Wolfram syndrome
C0078918	MedGen UID:36250	Oculocutaneous albinism	http://www.ncbi.nlm.nih.gov/medgen/36250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018910	http://purl.obolibrary.org/obo/MONDO_0018910	NANDO:1200637	眼皮膚白皮症	Oculocutaneous albinism
C0282488	MedGen UID:129176	Interstitial cystitis	http://www.ncbi.nlm.nih.gov/medgen/129176	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018301	http://purl.obolibrary.org/obo/MONDO_0018301	NANDO:1200743	間質性膀胱炎（ハンナ型）	Interstitial cystitis (Hunner type)
C0282528	MedGen UID:129185	Peroxisomal disorder	http://www.ncbi.nlm.nih.gov/medgen/129185	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019053	http://purl.obolibrary.org/obo/MONDO_0019053	NANDO:1200758	ペルオキシソーム病	Peroxisomal disorder
C1955934	MedGen UID:363064	Trichothiodystrophy	http://www.ncbi.nlm.nih.gov/medgen/363064	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018053	http://purl.obolibrary.org/obo/MONDO_0018053	NANDO:1200627	硫黄欠乏性毛髪発育異常症	Trichothiodystrophy
C0013069	MedGen UID:41649	Double outlet right ventricle	http://www.ncbi.nlm.nih.gov/medgen/41649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018089	http://purl.obolibrary.org/obo/MONDO_0018089	NANDO:1200710	両大血管右室起始症	Double outlet right ventricle
C0020630	MedGen UID:43799	Hypophosphatasia	http://www.ncbi.nlm.nih.gov/medgen/43799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018570	http://purl.obolibrary.org/obo/MONDO_0018570	NANDO:1200656	低ホスファターゼ症	Hypophosphatasia
C0020757	MedGen UID:7002	Ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/7002	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019269	http://purl.obolibrary.org/obo/MONDO_0019269	NANDO:1200618	魚鱗癬症候群	Ichthyosis syndrome
C0265338	MedGen UID:75565	Coffin-Siris syndrome	http://www.ncbi.nlm.nih.gov/medgen/75565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015452	http://purl.obolibrary.org/obo/MONDO_0015452	NANDO:1200670	コフィン・シリス症候群	Coffin-Siris syndrome
C0796004	MedGen UID:162897	Kabuki syndrome	http://www.ncbi.nlm.nih.gov/medgen/162897	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016512	http://purl.obolibrary.org/obo/MONDO_0016512	NANDO:1200672	歌舞伎症候群	Kabuki syndrome
C5679612	MedGen UID:1826007	Joubert syndrome and related disorders	http://www.ncbi.nlm.nih.gov/medgen/1826007	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015369	http://purl.obolibrary.org/obo/MONDO_0015369	NANDO:1200661	ジュベール症候群関連疾患	Joubert syndrome and related disorders
CN294181	MedGen UID:977689	22q11.2 deletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/977689	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018923	http://purl.obolibrary.org/obo/MONDO_0018923	NANDO:1200688	22q11.2欠失症候群	22q11.2 deletion syndrome
CN304703	MedGen UID:988496	Primary membranoproliferative glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/988496	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018904	http://purl.obolibrary.org/obo/MONDO_0018904	NANDO:1200725	一次性膜性増殖性糸球体腎炎	Primary membranoproliferative glomerulonephritis
C0162566	MedGen UID:56453	Porphyria cutanea tarda	http://www.ncbi.nlm.nih.gov/medgen/56453	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015104	http://purl.obolibrary.org/obo/MONDO_0015104	NANDO:1200816	晩発性皮膚ポルフィリン症	Porphyria cutanea tarda
C3150990	MedGen UID:462340	Sterol carrier protein 2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/462340	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013391	http://purl.obolibrary.org/obo/MONDO_0013391	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
C0268419	MedGen UID:75679	Acatalasia	http://www.ncbi.nlm.nih.gov/medgen/75679	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013571	http://purl.obolibrary.org/obo/MONDO_0013571	NANDO:1200774	アカタラセミア	Acatalasemia
C3280428	MedGen UID:482058	Alpha-methylacyl-CoA racemase deficiency	http://www.ncbi.nlm.nih.gov/medgen/482058	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013681	http://purl.obolibrary.org/obo/MONDO_0013681	NANDO:1200768	２-メチルアシルCoAラセマーゼ欠損症	Alpha-methylacyl-CoA racemase deficiency
C0751436	MedGen UID:199656	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	http://www.ncbi.nlm.nih.gov/medgen/199656	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016543	http://purl.obolibrary.org/obo/MONDO_0016543	NANDO:1200786	ビオプテリン代謝異常症	Tetrahydrobiopterin deficiency
C5681192	MedGen UID:1842510	Disorder of plasmalogens biosynthesis	http://www.ncbi.nlm.nih.gov/medgen/1842510	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017986	http://purl.obolibrary.org/obo/MONDO_0017986	NANDO:1200770	プラスマローゲン合成系酵素欠損症	Plasmalogen biosynthesis enzyme deficiency
C5681280	MedGen UID:1843097	Disorder of peroxisomal beta oxidation	http://www.ncbi.nlm.nih.gov/medgen/1843097	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019233	http://purl.obolibrary.org/obo/MONDO_0019233	NANDO:1200764	ペルオキシソームβ酸化系酵素欠損症	Peroxisomal beta-oxidation enzyme deficiency
C1568247	MedGen UID:292820	Usher syndrome type 1	http://www.ncbi.nlm.nih.gov/medgen/292820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010168	http://purl.obolibrary.org/obo/MONDO_0010168	NANDO:1200942	アッシャー症候群1型	Usher syndrome type I
C1829703	MedGen UID:316820	Carnitine palmitoyl transferase 1A deficiency	http://www.ncbi.nlm.nih.gov/medgen/316820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009705	http://purl.obolibrary.org/obo/MONDO_0009705	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
C1848561	MedGen UID:341256	Cobalamin C disease	http://www.ncbi.nlm.nih.gov/medgen/341256	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010184	http://purl.obolibrary.org/obo/MONDO_0010184	NANDO:1201040	ホモシスチン尿症II型	Homocystinuria type 2
C1850568	MedGen UID:376827	Proteosome-associated autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/376827	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009726	http://purl.obolibrary.org/obo/MONDO_0009726	NANDO:1200867	中條・西村症候群	Nakajo-Nishimura syndrome
C0162530	MedGen UID:102408	Cutaneous porphyria	http://www.ncbi.nlm.nih.gov/medgen/102408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009902	http://purl.obolibrary.org/obo/MONDO_0009902	NANDO:1200817	先天性骨髄性ポルフィリン症	Congenital erythropoietic porphyria
C0175694	MedGen UID:61231	Smith-Lemli-Opitz syndrome	http://www.ncbi.nlm.nih.gov/medgen/61231	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010035	http://purl.obolibrary.org/obo/MONDO_0010035	NANDO:1200961	スミス・レムリ・オピッツ症候群	Smith-lemli-opitz syndrome
C0206307	MedGen UID:61565	Spongy degeneration of central nervous system	http://www.ncbi.nlm.nih.gov/medgen/61565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010079	http://purl.obolibrary.org/obo/MONDO_0010079	NANDO:1200948	カナバン病	Canavan disease
C0410422	MedGen UID:140822	Chronic multifocal osteomyelitis	http://www.ncbi.nlm.nih.gov/medgen/140822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009813	http://purl.obolibrary.org/obo/MONDO_0009813	NANDO:1200869	慢性再発性多発性骨髄炎	Chronic recurrent multifocal osteomyelitis
C1970848	MedGen UID:410166	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/410166	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010392	http://purl.obolibrary.org/obo/MONDO_0010392	NANDO:1200831	ホスホグリセリン酸キナーゼ欠損症	Phosphoglycerate kinase deficiency
C2677889	MedGen UID:394385	X-linked erythropoietic protoporphyria	http://www.ncbi.nlm.nih.gov/medgen/394385	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010420	http://purl.obolibrary.org/obo/MONDO_0010420	NANDO:1200818	X連鎖優性プロトポルフィリン症	X-linked dominant protoporphyria
C0268149	MedGen UID:120613	Glycogen storage disease type X	http://www.ncbi.nlm.nih.gov/medgen/120613	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009865	http://purl.obolibrary.org/obo/MONDO_0009865	NANDO:1200832	筋型糖原病X型	Glycogen storage diseases type X
C0543514	MedGen UID:107772	Glycogen storage disease IXb	http://www.ncbi.nlm.nih.gov/medgen/107772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009868	http://purl.obolibrary.org/obo/MONDO_0009868	NANDO:1200848	肝型糖原病IXb型	Hepatic glycogen storage disease type IXb
C0345217	MedGen UID:83377	Cloacal exstrophy	http://www.ncbi.nlm.nih.gov/medgen/83377	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009774	http://purl.obolibrary.org/obo/MONDO_0009774	NANDO:1200909	総排泄腔外反症	Cloacal exstrophy
C1845151	MedGen UID:335112	Glycogen storage disease IXd	http://www.ncbi.nlm.nih.gov/medgen/335112	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010362	http://purl.obolibrary.org/obo/MONDO_0010362	NANDO:1200830	筋型糖原病IXd型	Glycogen storage diseases type IXd
C1845862	MedGen UID:337451	Creatine transporter deficiency	http://www.ncbi.nlm.nih.gov/medgen/337451	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010305	http://purl.obolibrary.org/obo/MONDO_0010305	NANDO:1201035	クレアチントランスポーター欠損症	Creatine transporter deficiency
C0574084	MedGen UID:108273	3-Methylglutaconic aciduria type 3	http://www.ncbi.nlm.nih.gov/medgen/108273	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009787	http://purl.obolibrary.org/obo/MONDO_0009787	NANDO:1200992	メチルグルタコン酸尿症III型	3-methylglutaconic aciduria type III
C1568248	MedGen UID:339336	Usher syndrome type 3	http://www.ncbi.nlm.nih.gov/medgen/339336	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016485	http://purl.obolibrary.org/obo/MONDO_0016485	NANDO:1200944	アッシャー症候群3型	Usher syndrome Type III
C0002876	MedGen UID:8064	Congenital dyserythropoietic anemia	http://www.ncbi.nlm.nih.gov/medgen/8064	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019403	http://purl.obolibrary.org/obo/MONDO_0019403	NANDO:1200885	先天性赤血球形成異常性貧血	Congenital dyserythropoietic anemia
C0220989	MedGen UID:66352	Acquired partial lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/66352	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012104	http://purl.obolibrary.org/obo/MONDO_0012104	NANDO:1200862	後天性部分性脂肪萎縮症	Acquired partial lipodystrophy
C2609129	MedGen UID:750633	Autoimmune pancreatitis	http://www.ncbi.nlm.nih.gov/medgen/750633	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015175	http://purl.obolibrary.org/obo/MONDO_0015175	NANDO:1200925	自己免疫性膵炎	Autoimmune pancreatitis
C2931743	MedGen UID:419152	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	http://www.ncbi.nlm.nih.gov/medgen/419152	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013047	http://purl.obolibrary.org/obo/MONDO_0013047	NANDO:1200833	筋型糖原病XI型	Glycogen storage diseases type XI
C3150754	MedGen UID:462104	Glycogen storage disease XV	http://www.ncbi.nlm.nih.gov/medgen/462104	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013291	http://purl.obolibrary.org/obo/MONDO_0013291	NANDO:1200837	筋型糖原病XV型	Glycogen storage diseases type XV
C3150833	MedGen UID:462183	Occult macular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/462183	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013316	http://purl.obolibrary.org/obo/MONDO_0013316	NANDO:1200934	オカルト黄斑ジストロフィー	Occult macular dystrophy
C5392056	MedGen UID:1708840	IgG4-related kidney disease	http://www.ncbi.nlm.nih.gov/medgen/1708840	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018671	http://purl.obolibrary.org/obo/MONDO_0018671	NANDO:1200930	IgG4関連腎臓病	IgG4-related kidney disease
C5779633	MedGen UID:1830326	LCAT deficiency	http://www.ncbi.nlm.nih.gov/medgen/1830326	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018999	http://purl.obolibrary.org/obo/MONDO_0018999	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
C0026103	MedGen UID:6399	IgG4-related dacryoadenitis and sialadenitis	http://www.ncbi.nlm.nih.gov/medgen/6399	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019191	http://purl.obolibrary.org/obo/MONDO_0019191	NANDO:1200929	IgG4関連涙腺・眼窩および唾液腺病変	IgG4-related dacryoadenitis and sialadenitis
C0026755	MedGen UID:10119	Multiple carboxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/10119	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015454	http://purl.obolibrary.org/obo/MONDO_0015454	NANDO:1200820	複合カルボキシラーゼ欠損症	Multiple carboxylase deficiency
C0029434	MedGen UID:45246	Osteogenesis imperfecta	http://www.ncbi.nlm.nih.gov/medgen/45246	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019019	http://purl.obolibrary.org/obo/MONDO_0019019	NANDO:1200873	骨形成不全症	Osteogenesis imperfecta
C0031069	MedGen UID:45811	Familial Mediterranean fever	http://www.ncbi.nlm.nih.gov/medgen/45811	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018088	http://purl.obolibrary.org/obo/MONDO_0018088	NANDO:1200863	家族性地中海熱	Familial Mediterranean fever
C0271093	MedGen UID:75734	Stargardt disease	http://www.ncbi.nlm.nih.gov/medgen/75734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019353	http://purl.obolibrary.org/obo/MONDO_0019353	NANDO:1200933	Stargardt病	Stargardt disease
C0917796	MedGen UID:182973	Leber optic atrophy	http://www.ncbi.nlm.nih.gov/medgen/182973	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010788	http://purl.obolibrary.org/obo/MONDO_0010788	NANDO:1200940	レーベル遺伝性視神経症	Leber hereditary optic neuropathy
C1096116	MedGen UID:204253	Acquired hemophilia	http://www.ncbi.nlm.nih.gov/medgen/204253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019139	http://purl.obolibrary.org/obo/MONDO_0019139	NANDO:1200898	自己免疫性後天性凝固第 VIII/8 因子欠乏症	Acquired hemophilia A
C1260899	MedGen UID:266045	Diamond-Blackfan anemia	http://www.ncbi.nlm.nih.gov/medgen/266045	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015253	http://purl.obolibrary.org/obo/MONDO_0015253	NANDO:1200890	ダイアモンド・ブラックファン貧血	Diamond-Blackfan anemia
C1858361	MedGen UID:346801	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	http://www.ncbi.nlm.nih.gov/medgen/346801	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011462	http://purl.obolibrary.org/obo/MONDO_0011462	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
C1858854	MedGen UID:347006	Megalencephalic leukoencephalopathy with subcortical cysts	http://www.ncbi.nlm.nih.gov/medgen/347006	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011391	http://purl.obolibrary.org/obo/MONDO_0011391	NANDO:1200950	皮質下嚢胞をもつ大頭型白質脳症	Megaloencephalic leukoencephalopathy with subcortical cysts
C3203653	MedGen UID:473761	IgG4-related disease	http://www.ncbi.nlm.nih.gov/medgen/473761	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017287	http://purl.obolibrary.org/obo/MONDO_0017287	NANDO:1200923	IgG4関連疾患	IgG4-related disease
C3694531	MedGen UID:854172	Glycogen storage disease IXa1	http://www.ncbi.nlm.nih.gov/medgen/854172	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010598	http://purl.obolibrary.org/obo/MONDO_0010598	NANDO:1200847	肝型糖原病IXa型	Hepatic glycogen storage disease type IXa
C3714753	MedGen UID:811458	Juvenile retinoschisis	http://www.ncbi.nlm.nih.gov/medgen/811458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010725	http://purl.obolibrary.org/obo/MONDO_0010725	NANDO:1200938	X連鎖性若年網膜分離症	X-linked juvenile retinoschisis
C4085590	MedGen UID:896366	Cone-rod dystrophy	http://www.ncbi.nlm.nih.gov/medgen/896366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015993	http://purl.obolibrary.org/obo/MONDO_0015993	NANDO:1200937	錐体杆体ジストロフィー	Cone-rod dystrophy
C4302109	MedGen UID:927778	IgG4-related sclerosing cholangitis	http://www.ncbi.nlm.nih.gov/medgen/927778	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018645	http://purl.obolibrary.org/obo/MONDO_0018645	NANDO:1200928	IgG4関連硬化性胆管炎	IgG4-related sclerosing cholangitis
C0039743	MedGen UID:21124	Thanatophoric dysplasia	http://www.ncbi.nlm.nih.gov/medgen/21124	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017042	http://purl.obolibrary.org/obo/MONDO_0017042	NANDO:1200874	タナトフォリック骨異形成症	Thanatophoric dysplasia
C0271693	MedGen UID:543499	Acquired generalized lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/543499	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019193	http://purl.obolibrary.org/obo/MONDO_0019193	NANDO:1200860	後天性全身性脂肪萎縮症	Acquired generalized lipodystrophy
C0272066	MedGen UID:82895	HNSHA due to aldolase A deficiency	http://www.ncbi.nlm.nih.gov/medgen/82895	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012747	http://purl.obolibrary.org/obo/MONDO_0012747	NANDO:1200834	筋型糖原病XII型	Glycogen storage diseases type XII
C2751643	MedGen UID:442778	Glycogen storage disease IXc	http://www.ncbi.nlm.nih.gov/medgen/442778	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013091	http://purl.obolibrary.org/obo/MONDO_0013091	NANDO:1200849	肝型糖原病IXc型	Hepatic glycogen storage disease type IXc
C2752015	MedGen UID:414536	PGM1-congenital disorder of glycosylation	http://www.ncbi.nlm.nih.gov/medgen/414536	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013968	http://purl.obolibrary.org/obo/MONDO_0013968	NANDO:1200836	筋型糖原病XIV型	Glycogen storage diseases type XIV
C2752027	MedGen UID:442873	Glycogen storage disease due to muscle beta-enolase deficiency	http://www.ncbi.nlm.nih.gov/medgen/442873	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013046	http://purl.obolibrary.org/obo/MONDO_0013046	NANDO:1200835	筋型糖原病XIII型	Glycogen storage diseases type XIII
C0015625	MedGen UID:41967	Fanconi anemia	http://www.ncbi.nlm.nih.gov/medgen/41967	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019391	http://purl.obolibrary.org/obo/MONDO_0019391	NANDO:1200891	ファンコニ貧血	Fanconi anemia
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:1200903	ヒルシュスプルング病	Hirschsprung disease
CN262437	MedGen UID:945467	Berardinelli-Seip congenital lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/945467	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018883	http://purl.obolibrary.org/obo/MONDO_0018883	NANDO:1200859	先天性全身性脂肪萎縮症	Generalized congenital lipodystrophy
C1853942	MedGen UID:340091	Neonatal intrahepatic cholestasis due to citrin deficiency	http://www.ncbi.nlm.nih.gov/medgen/340091	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011601	http://purl.obolibrary.org/obo/MONDO_0011601	NANDO:1200979	新生児肝内胆汁うっ滞症	Neonatal intrahepatic cholestasis caused by citrin deficiency
C0003076	MedGen UID:1941	Congenital aniridia	http://www.ncbi.nlm.nih.gov/medgen/1941	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019172	http://purl.obolibrary.org/obo/MONDO_0019172	NANDO:1201001	無虹彩症	Aniridia
C1997910	MedGen UID:372684	Citrin deficiency	http://www.ncbi.nlm.nih.gov/medgen/372684	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016602	http://purl.obolibrary.org/obo/MONDO_0016602	NANDO:1200978	シトリン欠損症	Citrin deficiency
C2675179	MedGen UID:436367	Arginine:glycine amidinotransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/436367	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012996	http://purl.obolibrary.org/obo/MONDO_0012996	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
C0029454	MedGen UID:18223	Osteopetrosis	http://www.ncbi.nlm.nih.gov/medgen/18223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017198	http://purl.obolibrary.org/obo/MONDO_0017198	NANDO:1200998	大理石骨病	Osteopetrosis
C0268312	MedGen UID:75668	Progressive familial intrahepatic cholestasis	http://www.ncbi.nlm.nih.gov/medgen/75668	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015762	http://purl.obolibrary.org/obo/MONDO_0015762	NANDO:1201042	進行性家族性肝内胆汁うっ滞症	Progressive familial intrahepatic cholestasis
C0268468	MedGen UID:120642	Dopa-responsive dystonia due to sepiapterin reductase deficiency	http://www.ncbi.nlm.nih.gov/medgen/120642	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012994	http://purl.obolibrary.org/obo/MONDO_0012994	NANDO:1200982	セピアプテリン還元酵素欠損症	Sepiapterin reductase deficiency
C0270972	MedGen UID:78752	De Lange syndrome	http://www.ncbi.nlm.nih.gov/medgen/78752	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016033	http://purl.obolibrary.org/obo/MONDO_0016033	NANDO:1200960	コルネリア・デランゲ症候群	Cornelia de lange syndrome
C0393591	MedGen UID:97953	Aicardi Goutieres syndrome	http://www.ncbi.nlm.nih.gov/medgen/97953	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018866	http://purl.obolibrary.org/obo/MONDO_0018866	NANDO:1200996	エカルディ・グティエール症候群	Aicardi-Goutières Syndrome
C0396051	MedGen UID:97973	Congenital subglottic stenosis	http://www.ncbi.nlm.nih.gov/medgen/97973	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015395	http://purl.obolibrary.org/obo/MONDO_0015395	NANDO:1201004	先天性声門下狭窄症	Congenital subglottic stenosis
C3489789	MedGen UID:483742	Progressive familial intrahepatic cholestasis type 2	http://www.ncbi.nlm.nih.gov/medgen/483742	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011156	http://purl.obolibrary.org/obo/MONDO_0011156	NANDO:1201044	進行性家族性肝内胆汁うっ滞症2型	Progressive familial intrahepatic cholestasis type 2
C3696376	MedGen UID:777186	3-Methylglutaconic aciduria	http://www.ncbi.nlm.nih.gov/medgen/777186	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017359	http://purl.obolibrary.org/obo/MONDO_0017359	NANDO:1200989	メチルグルタコン酸尿症	Methylglutaconic aciduria
C4708598	MedGen UID:1642329	Partial duplication of the long arm of chromosome 1	http://www.ncbi.nlm.nih.gov/medgen/1642329	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016952	http://purl.obolibrary.org/obo/MONDO_0016952	NANDO:1200958	1q部分重複症候群	Partial trisomy 1q
C5201145	MedGen UID:1684821	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	http://www.ncbi.nlm.nih.gov/medgen/1684821	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012465	http://purl.obolibrary.org/obo/MONDO_0012465	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
C0342790	MedGen UID:137978	Carnitine palmitoyltransferase II deficiency	http://www.ncbi.nlm.nih.gov/medgen/137978	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015515	http://purl.obolibrary.org/obo/MONDO_0015515	NANDO:1200971	カルニチンパルミトイルトランスフェラーゼII欠損症	Carnitine palmitoyltransferase II deficiency
C0687120	MedGen UID:146912	Nephronophthisis	http://www.ncbi.nlm.nih.gov/medgen/146912	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019005	http://purl.obolibrary.org/obo/MONDO_0019005	NANDO:1201036	ネフロン癆	Nephronophthisis
C0748540	MedGen UID:148187	Limited cutaneous systemic sclerosis	http://www.ncbi.nlm.nih.gov/medgen/148187	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016358	http://purl.obolibrary.org/obo/MONDO_0016358	NANDO:1201011	限局皮膚硬化型全身性強皮症	Limited cutaneous systemic sclerosis
C3887654	MedGen UID:854497	Vasculitis due to ADA2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/854497	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014306	http://purl.obolibrary.org/obo/MONDO_0014306	NANDO:1200995	ADA2欠損症	Adenosine deaminase 2 deficiency
C4014588	MedGen UID:863025	Leukoencephalopathy, progressive, with ovarian failure	http://www.ncbi.nlm.nih.gov/medgen/863025	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014387	http://purl.obolibrary.org/obo/MONDO_0014387	NANDO:1200952	卵巣機能障害を伴う進行性白質脳症	Leukoencephalopathy, progressive, with ovarian failure
C4015067	MedGen UID:863504	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/863504	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014472	http://purl.obolibrary.org/obo/MONDO_0014472	NANDO:1200994	NLRC4異常症	NLRC4 mutation
C4551771	MedGen UID:1684615	Kleefstra syndrome	http://www.ncbi.nlm.nih.gov/medgen/1684615	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012455	http://purl.obolibrary.org/obo/MONDO_0012455	NANDO:1200959	9q34欠失症候群	9q34 deletion syndrome
C4551990	MedGen UID:1639219	Familial hypobetalipoproteinemia 1	http://www.ncbi.nlm.nih.gov/medgen/1639219	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014252	http://purl.obolibrary.org/obo/MONDO_0014252	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
C5548200	MedGen UID:1785446	Neonatal glycine encephalopathy	http://www.ncbi.nlm.nih.gov/medgen/1785446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017353	http://purl.obolibrary.org/obo/MONDO_0017353	NANDO:1200985	新生児型非ケトーシス型高グリシン血症	Neonatal nonketotic hyperglycinemia
C5548209	MedGen UID:1781124	Infantile glycine encephalopathy	http://www.ncbi.nlm.nih.gov/medgen/1781124	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017354	http://purl.obolibrary.org/obo/MONDO_0017354	NANDO:1200986	乳児型非ケトーシス型高グリシン血症	Infantile nonketotic hyperglycinemia
C1863844	MedGen UID:350276	Citrullinemia type II	http://www.ncbi.nlm.nih.gov/medgen/350276	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016603	http://purl.obolibrary.org/obo/MONDO_0016603	NANDO:1200980	成人発症II型シトルリン血症	Adult-onset type II citrullinemia
C1865643	MedGen UID:356333	Progressive familial intrahepatic cholestasis type 3	http://www.ncbi.nlm.nih.gov/medgen/356333	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011214	http://purl.obolibrary.org/obo/MONDO_0011214	NANDO:1201045	進行性家族性肝内胆汁うっ滞症3型	Progressive familial intrahepatic cholestasis type 3
C1969443	MedGen UID:370665	Mitochondrial trifunctional protein deficiency	http://www.ncbi.nlm.nih.gov/medgen/370665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012172	http://purl.obolibrary.org/obo/MONDO_0012172	NANDO:1200974	三頭酵素欠損症	Trifunctional protein deficiency
C2931067	MedGen UID:418976	Cholestasis, progressive familial intrahepatic, 4	http://www.ncbi.nlm.nih.gov/medgen/418976	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014381	http://purl.obolibrary.org/obo/MONDO_0014381	NANDO:1201046	進行性家族性肝内胆汁うっ滞症4型	Progressive familial intrahepatic cholestasis type 4
C0265767	MedGen UID:120556	Congenital tracheal stenosis	http://www.ncbi.nlm.nih.gov/medgen/120556	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011340	http://purl.obolibrary.org/obo/MONDO_0011340	NANDO:1201003	先天性気管狭窄症	Congenital tracheal stenosis
C0574080	MedGen UID:154356	Deficiency of guanidinoacetate methyltransferase	http://www.ncbi.nlm.nih.gov/medgen/154356	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012999	http://purl.obolibrary.org/obo/MONDO_0012999	NANDO:1201034	グアニジノ酢酸メチル基転位酵素欠損症	Guanidinoacetate methyltransferase deficiency
C0574083	MedGen UID:107893	3-Methylglutaconic aciduria type 2	http://www.ncbi.nlm.nih.gov/medgen/107893	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010543	http://purl.obolibrary.org/obo/MONDO_0010543	NANDO:1200991	メチルグルタコン酸尿症II型	3-methylglutaconicaciduria type II
C0751748	MedGen UID:155625	Non-ketotic hyperglycinemia	http://www.ncbi.nlm.nih.gov/medgen/155625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011612	http://purl.obolibrary.org/obo/MONDO_0011612	NANDO:1200984	非ケトーシス型高グリシン血症	Nonketotic hyperglycinemia
C1291564	MedGen UID:220945	Deficiency of aromatic-L-amino-acid decarboxylase	http://www.ncbi.nlm.nih.gov/medgen/220945	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012084	http://purl.obolibrary.org/obo/MONDO_0012084	NANDO:1200988	芳香族L－アミノ酸脱炭酸酵素欠損症	Aromatic L-amino acid decarboxylase deficiency
C5680865	MedGen UID:1826176	Congenital pulmonary veins atresia or stenosis	http://www.ncbi.nlm.nih.gov/medgen/1826176	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017864	http://purl.obolibrary.org/obo/MONDO_0017864	NANDO:1200964	先天性肺静脈狭窄症	Congenital pulmonary vein stenosis
C5681080	MedGen UID:1842227	Disorder of carnitine cycle and carnitine transport	http://www.ncbi.nlm.nih.gov/medgen/1842227	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017716	http://purl.obolibrary.org/obo/MONDO_0017716	NANDO:1200969	カルニチン回路異常症	Carnitine cycle disorders
CN282059	MedGen UID:965566	Diffuse cutaneous systemic sclerosis	http://www.ncbi.nlm.nih.gov/medgen/965566	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016356	http://purl.obolibrary.org/obo/MONDO_0016356	NANDO:1201010	びまん皮膚硬化型全身性強皮症	Diffuse cutaneous systemic sclerosis
C1847406	MedGen UID:335678	Familial digital arthropathy-brachydactyly	http://www.ncbi.nlm.nih.gov/medgen/335678	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011732	http://purl.obolibrary.org/obo/MONDO_0011732	NANDO:1201103	短指を伴う家族性指関節症	Familial digital arthropathy with brachydactyly
C1849453	MedGen UID:336602	Rapadilino syndrome	http://www.ncbi.nlm.nih.gov/medgen/336602	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009955	http://purl.obolibrary.org/obo/MONDO_0009955	NANDO:1201058	ラパデリノ症候群	RAPADILINO syndrome
C0155912	MedGen UID:56374	PULMONARY ALVEOLAR MICROLITHIASIS	http://www.ncbi.nlm.nih.gov/medgen/56374	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009928	http://purl.obolibrary.org/obo/MONDO_0009928	NANDO:2200202	肺胞微石症	Pulmonary alveolar microlithiasis
C0205770	MedGen UID:64439	Choroid plexus papilloma	http://www.ncbi.nlm.nih.gov/medgen/64439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009837	http://purl.obolibrary.org/obo/MONDO_0009837	NANDO:2200093	脈絡叢乳頭腫	Choroid plexus papilloma
C0206657	MedGen UID:61652	Alveolar soft part sarcoma	http://www.ncbi.nlm.nih.gov/medgen/61652	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011655	http://purl.obolibrary.org/obo/MONDO_0011655	NANDO:2200063	胞巣状軟部肉腫	Alveolar soft part sarcoma
C0028860	MedGen UID:18145	Lowe syndrome	http://www.ncbi.nlm.nih.gov/medgen/18145	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010645	http://purl.obolibrary.org/obo/MONDO_0010645	NANDO:2200188	ロウ症候群	Lowe syndrome
C0029463	MedGen UID:10501	Osteosarcoma	http://www.ncbi.nlm.nih.gov/medgen/10501	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009807	http://purl.obolibrary.org/obo/MONDO_0009807	NANDO:2200048	骨肉腫	Osteosarcoma
C0266484	MedGen UID:78606	Schizencephaly	http://www.ncbi.nlm.nih.gov/medgen/78606	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010011	http://purl.obolibrary.org/obo/MONDO_0010011	NANDO:1201073	裂脳症	Schizencephaly
C0268450	MedGen UID:75681	Familial hypokalemia-hypomagnesemia	http://www.ncbi.nlm.nih.gov/medgen/75681	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009904	http://purl.obolibrary.org/obo/MONDO_0009904	NANDO:2200145	ギッテルマン症候群	Gitelman syndrome
C0349639	MedGen UID:138109	Juvenile myelomonocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/138109	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011908	http://purl.obolibrary.org/obo/MONDO_0011908	NANDO:2200015	若年性骨髄単球性白血病	Juvenile myelomonocytic leukemia
C0403399	MedGen UID:98011	Finnish congenital nephrotic syndrome	http://www.ncbi.nlm.nih.gov/medgen/98011	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009732	http://purl.obolibrary.org/obo/MONDO_0009732	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
C1266144	MedGen UID:266105	Pleuropulmonary blastoma	http://www.ncbi.nlm.nih.gov/medgen/266105	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011014	http://purl.obolibrary.org/obo/MONDO_0011014	NANDO:2200080	胸膜肺芽腫	Pleuropulmonaryblastoma
C0085548	MedGen UID:39076	Autosomal recessive polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/39076	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009889	http://purl.obolibrary.org/obo/MONDO_0009889	NANDO:2200154	常染色体劣性多発性嚢胞腎	Autosomal recessive polycystic kidney disease
C1838657	MedGen UID:374020	Vitamin D hydroxylation-deficient rickets, type 1B	http://www.ncbi.nlm.nih.gov/medgen/374020	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010810	http://purl.obolibrary.org/obo/MONDO_0010810	NANDO:1201093	ビタミンD依存症 1B型	Vitamin D-dependent rickets, type 1B
C0039101	MedGen UID:21050	Synovial sarcoma	http://www.ncbi.nlm.nih.gov/medgen/21050	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010434	http://purl.obolibrary.org/obo/MONDO_0010434	NANDO:2200061	滑膜肉腫	Synovial sarcoma
C0279543	MedGen UID:75993	Chronic myelogenous leukemia, BCR-ABL1 positive	http://www.ncbi.nlm.nih.gov/medgen/75993	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011996	http://purl.obolibrary.org/obo/MONDO_0011996	NANDO:2200013	慢性骨髄性白血病	Chronic myeloid leukemia
C1864100	MedGen UID:350343	Pseudohypoparathyroidism type 1B	http://www.ncbi.nlm.nih.gov/medgen/350343	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011301	http://purl.obolibrary.org/obo/MONDO_0011301	NANDO:1201076	偽性副甲状腺機能低下症Ib型	Pseudohypoparathyroidism type 1B
C1864233	MedGen UID:400481	Congenital myasthenic syndrome 5	http://www.ncbi.nlm.nih.gov/medgen/400481	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011281	http://purl.obolibrary.org/obo/MONDO_0011281	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
C1866294	MedGen UID:356497	Ehlers-Danlos syndrome, musculocontractural type	http://www.ncbi.nlm.nih.gov/medgen/356497	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011142	http://purl.obolibrary.org/obo/MONDO_0011142	NANDO:1201089	筋拘縮型エーラス・ダンロス症候群	Musculocontractural Ehlers-Danlos syndrome
C1869116	MedGen UID:358271	Inherited susceptibility to asthma	http://www.ncbi.nlm.nih.gov/medgen/358271	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010940	http://purl.obolibrary.org/obo/MONDO_0010940	NANDO:2200197	気管支喘息	Bronchial asthma
C0022541	MedGen UID:9618	Kearns-Sayre syndrome	http://www.ncbi.nlm.nih.gov/medgen/9618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010787	http://purl.obolibrary.org/obo/MONDO_0010787	NANDO:1201064	カーンズ・セイヤー症候群	Kearns-Sayre syndrome
C0007001	MedGen UID:2825	Inborn carbohydrate metabolic disorder	http://www.ncbi.nlm.nih.gov/medgen/2825	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019214	http://purl.obolibrary.org/obo/MONDO_0019214	NANDO:2100164	糖質代謝異常症	Disorder of carbohydrate metabolism
C0008626	MedGen UID:3441	Congenital chromosomal disease	http://www.ncbi.nlm.nih.gov/medgen/3441	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019040	http://purl.obolibrary.org/obo/MONDO_0019040	NANDO:2100279	染色体または遺伝子に変化を伴う症候群	Chromosome abnormality
C0008780	MedGen UID:3467	Primary ciliary dyskinesia	http://www.ncbi.nlm.nih.gov/medgen/3467	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	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)
C0010278	MedGen UID:1163	Craniosynostosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/1163	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015469	http://purl.obolibrary.org/obo/MONDO_0015469	NANDO:2100227	頭蓋骨縫合早期癒合症	Craniosynostosis
C0431376	MedGen UID:96562	Cobblestone lissencephaly	http://www.ncbi.nlm.nih.gov/medgen/96562	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018869	http://purl.obolibrary.org/obo/MONDO_0018869	NANDO:1201072	敷石様皮質異形成	Cobblestone brain malformation
C2931845	MedGen UID:444156	Neurodegeneration with brain iron accumulation	http://www.ncbi.nlm.nih.gov/medgen/444156	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018307	http://purl.obolibrary.org/obo/MONDO_0018307	NANDO:2100241	脳の鉄沈着を伴う神経変性疾患	Neurodegeneration with brain iron accumulation
C2932716	MedGen UID:420958	Pseudohypoparathyroidism type 1C	http://www.ncbi.nlm.nih.gov/medgen/420958	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012911	http://purl.obolibrary.org/obo/MONDO_0012911	NANDO:1201077	偽性副甲状腺機能低下症Ic型	Pseudohypoparathyroidism type 1C
C0023440	MedGen UID:7316	Acute myeloid leukemia, M6 type	http://www.ncbi.nlm.nih.gov/medgen/7316	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017858	http://purl.obolibrary.org/obo/MONDO_0017858	NANDO:2200010	急性赤白血病	Acute erythremia
C0023462	MedGen UID:44124	Acute megakaryoblastic leukemia	http://www.ncbi.nlm.nih.gov/medgen/44124	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018872	http://purl.obolibrary.org/obo/MONDO_0018872	NANDO:2200011	急性巨核芽球性白血病	Acute megakaryoblastic leukemia
C0023487	MedGen UID:44127	Acute promyelocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/44127	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012883	http://purl.obolibrary.org/obo/MONDO_0012883	NANDO:2200007	急性前骨髄球性白血病	Acute promyelocytic leukemia
C0025521	MedGen UID:6323	Inborn errors of metabolism	http://www.ncbi.nlm.nih.gov/medgen/6323	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019052	http://purl.obolibrary.org/obo/MONDO_0019052	NANDO:2100159	先天性代謝異常	Inborn errors of metabolism
C0027662	MedGen UID:45036	Multiple endocrine neoplasia	http://www.ncbi.nlm.nih.gov/medgen/45036	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017169	http://purl.obolibrary.org/obo/MONDO_0017169	NANDO:2100148	多発性内分泌腫瘍	Multiple endocrine neoplasia
C0027868	MedGen UID:10323	Neuromuscular disease	http://www.ncbi.nlm.nih.gov/medgen/10323	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019056	http://purl.obolibrary.org/obo/MONDO_0019056	NANDO:2100214	神経・筋疾患	Neuromuscular disease
C0029294	MedGen UID:14518	Orofaciodigital syndrome	http://www.ncbi.nlm.nih.gov/medgen/14518	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015375	http://purl.obolibrary.org/obo/MONDO_0015375	NANDO:1201051	口-顔-指症候群	Oral-facial-digital syndrome
C0403553	MedGen UID:96045	Renal dysplasia and retinal aplasia	http://www.ncbi.nlm.nih.gov/medgen/96045	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017842	http://purl.obolibrary.org/obo/MONDO_0017842	NANDO:1201049	セニオール・ローケン症候群	Senior-Loken syndrome
C3463824	MedGen UID:483005	Myelodysplastic syndrome	http://www.ncbi.nlm.nih.gov/medgen/483005	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018881	http://purl.obolibrary.org/obo/MONDO_0018881	NANDO:2200019	骨髄異形成症候群	Myelodysplastic syndrome
C4082173	MedGen UID:901502	Porencephaly	http://www.ncbi.nlm.nih.gov/medgen/901502	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017410	http://purl.obolibrary.org/obo/MONDO_0017410	NANDO:1201074	孔脳症	Porencephaly
C0085409	MedGen UID:39042	Autoimmune polyendocrinopathy	http://www.ncbi.nlm.nih.gov/medgen/39042	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017278	http://purl.obolibrary.org/obo/MONDO_0017278	NANDO:2100125	自己免疫性多内分泌腺症候群	Autoimmune polyendocrinopathy
C0598221	MedGen UID:671121	Hereditary thrombophilia due to congenital protein C deficiency	http://www.ncbi.nlm.nih.gov/medgen/671121	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019145	http://purl.obolibrary.org/obo/MONDO_0019145	NANDO:1201080	先天性プロテインC欠乏症 	Protein C deficiency
C3887558	MedGen UID:854411	Hemophagocytic syndrome	http://www.ncbi.nlm.nih.gov/medgen/854411	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015540	http://purl.obolibrary.org/obo/MONDO_0015540	NANDO:2200032	血球貪食性リンパ組織球症	Hemophagocytic lymphohistiocytosis
C0043324	MedGen UID:12179	Juvenile xanthogranuloma	http://www.ncbi.nlm.nih.gov/medgen/12179	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015534	http://purl.obolibrary.org/obo/MONDO_0015534	NANDO:2200037	若年性黄色肉芽腫	Juvenile xanthogranuloma
C0282528	MedGen UID:129185	Peroxisomal disorder	http://www.ncbi.nlm.nih.gov/medgen/129185	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019053	http://purl.obolibrary.org/obo/MONDO_0019053	NANDO:2100166	ペルオキシソーム病	Peroxisomal disorder
C2711630	MedGen UID:751396	Combined immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/751396	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015131	http://purl.obolibrary.org/obo/MONDO_0015131	NANDO:2100203	複合免疫不全症	Combined immunodeficiency
C4310747	MedGen UID:934714	Cholestasis, progressive familial intrahepatic, 5	http://www.ncbi.nlm.nih.gov/medgen/934714	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014884	http://purl.obolibrary.org/obo/MONDO_0014884	NANDO:1201047	進行性家族性肝内胆汁うっ滞症5型	Progressive familial intrahepatic cholestasis type 5
C0019621	MedGen UID:5568	Langerhans cell histiocytosis	http://www.ncbi.nlm.nih.gov/medgen/5568	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018310	http://purl.obolibrary.org/obo/MONDO_0018310	NANDO:2200031	ランゲルハンス細胞組織球症	Langerhans cell histiocytosis
C0856562	MedGen UID:797407	Inherited ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/797407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015947	http://purl.obolibrary.org/obo/MONDO_0015947	NANDO:2100283	先天性魚鱗癬	Congenital ichthyosis
C0857899	MedGen UID:208996	Decreased circulating aldosterone concentration	http://www.ncbi.nlm.nih.gov/medgen/208996	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015900	http://purl.obolibrary.org/obo/MONDO_0015900	NANDO:2100132	低アルドステロン症	Hypoaldosteronism
C0878675	MedGen UID:163902	Erdheim-Chester disease	http://www.ncbi.nlm.nih.gov/medgen/163902	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018153	http://purl.obolibrary.org/obo/MONDO_0018153	NANDO:2200038	エルドハイム・チェスター病	Erdheim-Chester disease
CN199363	MedGen UID:799481	Progeroid syndrome	http://www.ncbi.nlm.nih.gov/medgen/799481	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015333	http://purl.obolibrary.org/obo/MONDO_0015333	NANDO:2100221	早老症	Progeroid syndromes
CN228979	MedGen UID:833238	B-cell non-Hodgkin lymphoma	http://www.ncbi.nlm.nih.gov/medgen/833238	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015759	http://purl.obolibrary.org/obo/MONDO_0015759	NANDO:2200020	成熟B細胞リンパ腫	Mature B-cell lymphoma
CN305775	MedGen UID:989515	Kidney Wilms tumor	http://www.ncbi.nlm.nih.gov/medgen/989515	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019004	http://purl.obolibrary.org/obo/MONDO_0019004	NANDO:2200043	ウィルムス腫瘍／腎芽腫	Wilms tumour
C1567741	MedGen UID:339209	Alport syndrome	http://www.ncbi.nlm.nih.gov/medgen/339209	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018965	http://purl.obolibrary.org/obo/MONDO_0018965	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
C0004775	MedGen UID:2172	Bartter syndrome	http://www.ncbi.nlm.nih.gov/medgen/2172	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015231	http://purl.obolibrary.org/obo/MONDO_0015231	NANDO:2200146	バーター症候群	Bartter syndrome
C0006272	MedGen UID:665	Bronchiolitis obliterans with obstructive pulmonary disease	http://www.ncbi.nlm.nih.gov/medgen/665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015265	http://purl.obolibrary.org/obo/MONDO_0015265	NANDO:2200209	閉塞性細気管支炎	Bronchiolitis obliterans
C0008780	MedGen UID:3467	Primary ciliary dyskinesia	http://www.ncbi.nlm.nih.gov/medgen/3467	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	NANDO:2200203	線毛機能不全症候群	Primary ciliary dyskinesia
C0010276	MedGen UID:41339	Craniopharyngioma	http://www.ncbi.nlm.nih.gov/medgen/41339	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018907	http://purl.obolibrary.org/obo/MONDO_0018907	NANDO:2200091	頭蓋咽頭腫	Craniopharyngioma
C0206624	MedGen UID:61644	Hepatoblastoma	http://www.ncbi.nlm.nih.gov/medgen/61644	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018666	http://purl.obolibrary.org/obo/MONDO_0018666	NANDO:2200046	肝芽腫	Hepatoblastoma
C0206716	MedGen UID:60216	Ganglioglioma	http://www.ncbi.nlm.nih.gov/medgen/60216	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016733	http://purl.obolibrary.org/obo/MONDO_0016733	NANDO:2200096	神経節膠腫	Ganglioglioma
C2673196	MedGen UID:382034	Lipoprotein glomerulopathy	http://www.ncbi.nlm.nih.gov/medgen/382034	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012725	http://purl.obolibrary.org/obo/MONDO_0012725	NANDO:2200134	リポタンパク糸球体症	Lipoprotein glomerulopathy
C2931788	MedGen UID:444141	Atypical hemolytic-uremic syndrome	http://www.ncbi.nlm.nih.gov/medgen/444141	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016244	http://purl.obolibrary.org/obo/MONDO_0016244	NANDO:2200131	非典型溶血性尿毒症症候群	Atypical hemolytic uremic syndrome
C5779630	MedGen UID:1830324	Gangliocytoma	http://www.ncbi.nlm.nih.gov/medgen/1830324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016730	http://purl.obolibrary.org/obo/MONDO_0016730	NANDO:2200097	神経節腫	Gangliocytoma
C0022681	MedGen UID:5970	Medullary sponge kidney	http://www.ncbi.nlm.nih.gov/medgen/5970	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015268	http://purl.obolibrary.org/obo/MONDO_0015268	NANDO:2200173	髄質海綿腎	Medullary sponge kidney
C0025286	MedGen UID:7532	Meningioma	http://www.ncbi.nlm.nih.gov/medgen/7532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016642	http://purl.obolibrary.org/obo/MONDO_0016642	NANDO:2200094	髄膜腫	Meningioma
C0028945	MedGen UID:45190	Oligodendroglioma	http://www.ncbi.nlm.nih.gov/medgen/45190	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016695	http://purl.obolibrary.org/obo/MONDO_0016695	NANDO:2200089	乏突起神経膠腫	Oligodendroglioma
C0349788	MedGen UID:87618	Arrhythmogenic right ventricular cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/87618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016587	http://purl.obolibrary.org/obo/MONDO_0016587	NANDO:2200230	不整脈源性右室心筋症	Arrhythmogenic right ventricular cardiomyopathy or dysplasia
C0431694	MedGen UID:609100	Oligomeganephronia	http://www.ncbi.nlm.nih.gov/medgen/609100	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016407	http://purl.obolibrary.org/obo/MONDO_0016407	NANDO:2200159	寡巨大糸球体症	Oligomeganephronia
C0542519	MedGen UID:154237	Renal agenesis	http://www.ncbi.nlm.nih.gov/medgen/154237	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018470	http://purl.obolibrary.org/obo/MONDO_0018470	NANDO:2200156	腎無形成	Renal aplasia
C0553580	MedGen UID:107816	Ewing sarcoma	http://www.ncbi.nlm.nih.gov/medgen/107816	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012817	http://purl.obolibrary.org/obo/MONDO_0012817	NANDO:2200053	ユーイング肉腫	Ewing's sarcoma
C0917890	MedGen UID:183004	Pineocytoma	http://www.ncbi.nlm.nih.gov/medgen/183004	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016723	http://purl.obolibrary.org/obo/MONDO_0016723	NANDO:2200092	松果体腫	Pineocytoma
C3711368	MedGen UID:777976	Hereditary pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/777976	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012580	http://purl.obolibrary.org/obo/MONDO_0012580	NANDO:2200200	先天性肺胞蛋白症	Congenital alveolar proteinosis
C3714581	MedGen UID:811388	Multicystic kidney dysplasia	http://www.ncbi.nlm.nih.gov/medgen/811388	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015988	http://purl.obolibrary.org/obo/MONDO_0015988	NANDO:2200158	多嚢胞性異形成腎	Multicystic dysplastic kidney
C4273898	MedGen UID:903364	Congenital primary megaureter	http://www.ncbi.nlm.nih.gov/medgen/903364	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018960	http://purl.obolibrary.org/obo/MONDO_0018960	NANDO:2200184	巨大尿管症	Megaureter
C0334489	MedGen UID:87250	Pancreatoblastoma	http://www.ncbi.nlm.nih.gov/medgen/87250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019035	http://purl.obolibrary.org/obo/MONDO_0019035	NANDO:2200082	膵芽腫	Pancreatoblastoma
C0334518	MedGen UID:83160	Polyembryoma	http://www.ncbi.nlm.nih.gov/medgen/83160	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015863	http://purl.obolibrary.org/obo/MONDO_0015863	NANDO:2200068	多胎芽腫	Polyembryoma
C0334524	MedGen UID:87257	Mixed germ cell tumor	http://www.ncbi.nlm.nih.gov/medgen/87257	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015864	http://purl.obolibrary.org/obo/MONDO_0015864	NANDO:2200071	混合性胚細胞腫瘍	Mixed germ cell tumour
C0334579	MedGen UID:137784	Astrocytoma, anaplastic	http://www.ncbi.nlm.nih.gov/medgen/137784	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016684	http://purl.obolibrary.org/obo/MONDO_0016684	NANDO:2200086	退形成性星細胞腫	Anaplastic astrocytoma
C0334583	MedGen UID:87271	Pilocytic astrocytoma	http://www.ncbi.nlm.nih.gov/medgen/87271	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016691	http://purl.obolibrary.org/obo/MONDO_0016691	NANDO:2200084	毛様細胞性星細胞腫	Pilocytic astrocytoma
C0684337	MedGen UID:151926	Peripheral primitive neuroectodermal tumor	http://www.ncbi.nlm.nih.gov/medgen/151926	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018271	http://purl.obolibrary.org/obo/MONDO_0018271	NANDO:2200055	末梢性未分化神経外胚葉性腫瘍	Peripheral primitive neuroectodermal tumors
C0687120	MedGen UID:146912	Nephronophthisis	http://www.ncbi.nlm.nih.gov/medgen/146912	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019005	http://purl.obolibrary.org/obo/MONDO_0019005	NANDO:2200140	ネフロン癆	Nephronophthisis
C1836876	MedGen UID:373199	Pierson syndrome	http://www.ncbi.nlm.nih.gov/medgen/373199	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012184	http://purl.obolibrary.org/obo/MONDO_0012184	NANDO:2200117	Pierson症候群	Pierson syndrome
C5574922	MedGen UID:1803763	Catecholaminergic polymorphic ventricular tachycardia	http://www.ncbi.nlm.nih.gov/medgen/1803763	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017990	http://purl.obolibrary.org/obo/MONDO_0017990	NANDO:2200221	カテコラミン誘発多形性心室頻拍	Catecholaminergic polymorphic ventricular tachycardia
C0280785	MedGen UID:83708	Diffuse astrocytoma	http://www.ncbi.nlm.nih.gov/medgen/83708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016686	http://purl.obolibrary.org/obo/MONDO_0016686	NANDO:2200085	びまん性星細胞腫	Diffuse astrocytoma
C0281508	MedGen UID:83833	Desmoplastic small round cell tumor	http://www.ncbi.nlm.nih.gov/medgen/83833	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019373	http://purl.obolibrary.org/obo/MONDO_0019373	NANDO:2200059	線維形成性小円形細胞腫瘍	Desmoplastic small round cell tumors
C0014474	MedGen UID:41825	Ependymoma	http://www.ncbi.nlm.nih.gov/medgen/41825	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016698	http://purl.obolibrary.org/obo/MONDO_0016698	NANDO:2200088	上衣腫	Ependymoma
C0017636	MedGen UID:42228	Glioblastoma	http://www.ncbi.nlm.nih.gov/medgen/42228	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018177	http://purl.obolibrary.org/obo/MONDO_0018177	NANDO:2200087	膠芽腫	Glioblastoma
C0751690	MedGen UID:155614	Malignant peripheral nerve sheath tumor	http://www.ncbi.nlm.nih.gov/medgen/155614	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017827	http://purl.obolibrary.org/obo/MONDO_0017827	NANDO:2200102	悪性神経鞘腫	Malignant neurinoma
C1849157	MedGen UID:338622	Growth delay due to insulin-like growth factor I resistance	http://www.ncbi.nlm.nih.gov/medgen/338622	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010038	http://purl.obolibrary.org/obo/MONDO_0010038	NANDO:2200320	インスリン様成長因子1不応症	IGF1 insensitivity
C0001403	MedGen UID:1324	Primary adrenocortical insufficiency	http://www.ncbi.nlm.nih.gov/medgen/1324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015129	http://purl.obolibrary.org/obo/MONDO_0015129	NANDO:2200360	アジソン病	Addison's disease
C0001627	MedGen UID:7900	Congenital adrenal hyperplasia	http://www.ncbi.nlm.nih.gov/medgen/7900	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018479	http://purl.obolibrary.org/obo/MONDO_0018479	NANDO:2200370	リポイド副腎過形成症	Congenital lipoid adrenal hyperplasia
C0008728	MedGen UID:3088	Eosinophilic granulomatosis with polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/3088	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015943	http://purl.obolibrary.org/obo/MONDO_0015943	NANDO:2200427	好酸球性多発血管炎性肉芽腫症	Eosinophilic granulomatosis with polyangiitis
C0009995	MedGen UID:3238	Triatrial heart	http://www.ncbi.nlm.nih.gov/medgen/3238	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015450	http://purl.obolibrary.org/obo/MONDO_0015450	NANDO:2200263	三心房心	Cor triatriatum
C0010308	MedGen UID:41344	Congenital hypothyroidism	http://www.ncbi.nlm.nih.gov/medgen/41344	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018612	http://purl.obolibrary.org/obo/MONDO_0018612	NANDO:2200333	先天性甲状腺機能低下症	Congenital hypothyroidism
C0162283	MedGen UID:57876	Nephrogenic diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/57876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016383	http://purl.obolibrary.org/obo/MONDO_0016383	NANDO:2200326	腎性尿崩症	Nephrogenic diabetes insipidus
C0162809	MedGen UID:102469	Hypogonadism with anosmia	http://www.ncbi.nlm.nih.gov/medgen/102469	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018800	http://purl.obolibrary.org/obo/MONDO_0018800	NANDO:2200381	カルマン症候群	Kallmann syndrome
C0221215	MedGen UID:65132	Complete atrioventricular canal	http://www.ncbi.nlm.nih.gov/medgen/65132	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015273	http://purl.obolibrary.org/obo/MONDO_0015273	NANDO:2200269	完全型房室中隔欠損症	Complete atrioventricular septal defect
C2239253	MedGen UID:853730	Aneurysm of sinus of Valsalva	http://www.ncbi.nlm.nih.gov/medgen/853730	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015197	http://purl.obolibrary.org/obo/MONDO_0015197	NANDO:2200293	バルサルバ洞動脈瘤	Aneurysm of sinus valsalva
C2973725	MedGen UID:425404	Pulmonary arterial hypertension	http://www.ncbi.nlm.nih.gov/medgen/425404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015924	http://purl.obolibrary.org/obo/MONDO_0015924	NANDO:2200298	肺動脈性肺高血圧症	Pulmonary arterial hypertension
C0265809	MedGen UID:120558	Double outlet left ventricle	http://www.ncbi.nlm.nih.gov/medgen/120558	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018090	http://purl.obolibrary.org/obo/MONDO_0018090	NANDO:2200257	両大血管左室起始症	Double-outlet left ventricle
C0265898	MedGen UID:488822	Coronary artery fistula	http://www.ncbi.nlm.nih.gov/medgen/488822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016081	http://purl.obolibrary.org/obo/MONDO_0016081	NANDO:2200296	冠動脈瘻	Coronary artery fistula
C0268296	MedGen UID:120626	Testosterone 17-beta-dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/120626	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009916	http://purl.obolibrary.org/obo/MONDO_0009916	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
C0268297	MedGen UID:75667	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75667	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009923	http://purl.obolibrary.org/obo/MONDO_0009923	NANDO:2200389	5α-還元酵素欠損症	5 alpha-reductase deficiency
C1857586	MedGen UID:341803	Conotruncal heart malformations	http://www.ncbi.nlm.nih.gov/medgen/341803	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016581	http://purl.obolibrary.org/obo/MONDO_0016581	NANDO:2200275	右室二腔症	Double-chambered right ventricle
C1860042	MedGen UID:348008	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	http://www.ncbi.nlm.nih.gov/medgen/348008	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013310	http://purl.obolibrary.org/obo/MONDO_0013310	NANDO:2200375	P450酸化還元酵素欠損症	P450 oxidoreductase deficiency
C3280212	MedGen UID:481842	Supravalvular pulmonary stenosis	http://www.ncbi.nlm.nih.gov/medgen/481842	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017870	http://purl.obolibrary.org/obo/MONDO_0017870	NANDO:2200278	肺動脈弁上狭窄症	Supravalvular pulmonary stenosis
C3495559	MedGen UID:760659	Juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/760659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011429	http://purl.obolibrary.org/obo/MONDO_0011429	NANDO:2200415	若年性特発性関節炎	Juvenile idiopathic arthritis
C3495801	MedGen UID:811223	Granulomatosis with polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/811223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012105	http://purl.obolibrary.org/obo/MONDO_0012105	NANDO:2200424	多発血管炎性肉芽腫症	Granulomatosis with polyangiitis
C4302200	MedGen UID:927869	Congenital central hypothyroidism	http://www.ncbi.nlm.nih.gov/medgen/927869	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016410	http://purl.obolibrary.org/obo/MONDO_0016410	NANDO:2200332	甲状腺刺激ホルモン分泌低下症	Thyroid-stimulating hormone deficiency
C4751433	MedGen UID:1651973	Late-onset isolated ACTH deficiency	http://www.ncbi.nlm.nih.gov/medgen/1651973	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016042	http://purl.obolibrary.org/obo/MONDO_0016042	NANDO:2200355	副腎皮質刺激ホルモン単独欠損症	Isolated ACTH deficiency
C0085860	MedGen UID:39126	Polyglandular autoimmune syndrome, type 2	http://www.ncbi.nlm.nih.gov/medgen/39126	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010012	http://purl.obolibrary.org/obo/MONDO_0010012	NANDO:2200347	自己免疫性多内分泌腺症候群2型	Autoimmune polyendocrinopathy type 2
C0344616	MedGen UID:87489	Congenitally corrected transposition of the great arteries	http://www.ncbi.nlm.nih.gov/medgen/87489	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016301	http://purl.obolibrary.org/obo/MONDO_0016301	NANDO:2200259	先天性修正大血管転位症	Congenitally corrected transposition of the great arteries
C0344622	MedGen UID:488862	Double inlet left ventricle	http://www.ncbi.nlm.nih.gov/medgen/488862	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015451	http://purl.obolibrary.org/obo/MONDO_0015451	NANDO:2200250	単心室症	Single ventricle
C0344975	MedGen UID:87491	Pulmonary atresia with intact ventricular septum	http://www.ncbi.nlm.nih.gov/medgen/87491	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009931	http://purl.obolibrary.org/obo/MONDO_0009931	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
C0687720	MedGen UID:146919	Central diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/146919	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015790	http://purl.obolibrary.org/obo/MONDO_0015790	NANDO:2200324	中枢性尿崩症	Central diabetes insipidus
C1841972	MedGen UID:333960	Glucocorticoid resistance	http://www.ncbi.nlm.nih.gov/medgen/333960	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014421	http://purl.obolibrary.org/obo/MONDO_0014421	NANDO:2200358	グルココルチコイド抵抗症	Glucocorticoid resistance
C0033805	MedGen UID:18721	Pseudohypoaldosteronism	http://www.ncbi.nlm.nih.gov/medgen/18721	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018638	http://purl.obolibrary.org/obo/MONDO_0018638	NANDO:2200367	偽性低アルドステロン症	Pseudohypoaldosteronism
C0033835	MedGen UID:10995	Pseudopseudohypoparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/10995	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012912	http://purl.obolibrary.org/obo/MONDO_0012912	NANDO:2200348	偽性偽性副甲状腺機能低下症	Pseudopseudohypoparathyroidism
C0039263	MedGen UID:21458	Takayasu arteritis	http://www.ncbi.nlm.nih.gov/medgen/21458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017991	http://purl.obolibrary.org/obo/MONDO_0017991	NANDO:2200423	高安動脈炎	Takayasu arteritis
C0041207	MedGen UID:52867	Persistent truncus arteriosus	http://www.ncbi.nlm.nih.gov/medgen/52867	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018072	http://purl.obolibrary.org/obo/MONDO_0018072	NANDO:2200261	総動脈幹遺残症	Truncus arteriosus communis
C0271623	MedGen UID:82883	Hypogonadotropic hypogonadism	http://www.ncbi.nlm.nih.gov/medgen/82883	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018555	http://purl.obolibrary.org/obo/MONDO_0018555	NANDO:2200382	低ゴナドトロピン性性腺機能低下症	Hypogonadotropic hypogonadism
C4318479	MedGen UID:1384226	Growth hormone insensitivity syndrome	http://www.ncbi.nlm.nih.gov/medgen/1384226	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015892	http://purl.obolibrary.org/obo/MONDO_0015892	NANDO:2200321	成長ホルモン不応性症候群	Growth hormone insensitivity
C0013069	MedGen UID:41649	Double outlet right ventricle	http://www.ncbi.nlm.nih.gov/medgen/41649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018089	http://purl.obolibrary.org/obo/MONDO_0018089	NANDO:2200256	両大血管右室起始症	Double outlet right ventricle
C0013274	MedGen UID:4415	Patent ductus arteriosus	http://www.ncbi.nlm.nih.gov/medgen/4415	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011827	http://purl.obolibrary.org/obo/MONDO_0011827	NANDO:2200264	動脈管開存症	Patent ductus arteriosus
C0243002	MedGen UID:67034	Tricuspid atresia	http://www.ncbi.nlm.nih.gov/medgen/67034	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011514	http://purl.obolibrary.org/obo/MONDO_0011514	NANDO:2200251	三尖弁閉鎖症	Tricuspid atresia
C0752166	MedGen UID:156019	Bardet-Biedl syndrome	http://www.ncbi.nlm.nih.gov/medgen/156019	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015229	http://purl.obolibrary.org/obo/MONDO_0015229	NANDO:2200414	バルデー・ビードル症候群	Bardet-Biedl syndrome
C1527336	MedGen UID:282890	Sjogren syndrome	http://www.ncbi.nlm.nih.gov/medgen/282890	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	NANDO:2200420	シェーグレン症候群	Sjogren's syndrome
C4023290	MedGen UID:868879	Partial atrioventricular canal	http://www.ncbi.nlm.nih.gov/medgen/868879	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015275	http://purl.obolibrary.org/obo/MONDO_0015275	NANDO:2200268	不完全型房室中隔欠損症	Incomplete atrioventricular septal defect
C5679613	MedGen UID:1814438	46,XX ovotesticular disorder of sex development	http://www.ncbi.nlm.nih.gov/medgen/1814438	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016281	http://purl.obolibrary.org/obo/MONDO_0016281	NANDO:2200387	卵精巣性性分化疾患	Ovotesticular dsd
C5680091	MedGen UID:1842250	Non-acquired combined pituitary hormone deficiency	http://www.ncbi.nlm.nih.gov/medgen/1842250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018762	http://purl.obolibrary.org/obo/MONDO_0018762	NANDO:2200312	先天性下垂体機能低下症	Congenital hypopituitarism
C5680513	MedGen UID:1842596	Peripheral precocious puberty	http://www.ncbi.nlm.nih.gov/medgen/1842596	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015791	http://purl.obolibrary.org/obo/MONDO_0015791	NANDO:2200378	ゴナドトロピン非依存性思春期早発症	Non-gonadotropin-dependent precocious puberty
C5680865	MedGen UID:1826176	Congenital pulmonary veins atresia or stenosis	http://www.ncbi.nlm.nih.gov/medgen/1826176	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017864	http://purl.obolibrary.org/obo/MONDO_0017864	NANDO:2200273	肺静脈狭窄症	Pulmonary venous obstruction
C1850568	MedGen UID:376827	Proteosome-associated autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/376827	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009726	http://purl.obolibrary.org/obo/MONDO_0009726	NANDO:2200435	中條・西村症候群	Nakajo-Nishimura syndrome
C0158981	MedGen UID:57645	Neonatal diabetes mellitus	http://www.ncbi.nlm.nih.gov/medgen/57645	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016391	http://purl.obolibrary.org/obo/MONDO_0016391	NANDO:2200463	新生児糖尿病	Neonatal diabetes mellitus
C0410422	MedGen UID:140822	Chronic multifocal osteomyelitis	http://www.ncbi.nlm.nih.gov/medgen/140822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009813	http://purl.obolibrary.org/obo/MONDO_0009813	NANDO:2200438	慢性再発性多発性骨髄炎	Chronic recurrent multifocal osteomyelitis
C2316212	MedGen UID:412215	Cryopyrin associated periodic syndrome	http://www.ncbi.nlm.nih.gov/medgen/412215	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016168	http://purl.obolibrary.org/obo/MONDO_0016168	NANDO:2200432	クリオピリン関連周期熱症候群	Cryopyrin-associated periodic syndrome
C2673198	MedGen UID:435869	Familial cold autoinflammatory syndrome 2	http://www.ncbi.nlm.nih.gov/medgen/435869	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012724	http://purl.obolibrary.org/obo/MONDO_0012724	NANDO:2200449	NLRP-12関連周期性症候群	NLRP12-associated periodic syndrome
C2675508	MedGen UID:393403	Inflammatory bowel disease 25	http://www.ncbi.nlm.nih.gov/medgen/393403	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012941	http://purl.obolibrary.org/obo/MONDO_0012941	NANDO:2200448	IL-10RB欠損症	IL-10RB deficiency
C0031069	MedGen UID:45811	Familial Mediterranean fever	http://www.ncbi.nlm.nih.gov/medgen/45811	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018088	http://purl.obolibrary.org/obo/MONDO_0018088	NANDO:2200431	家族性地中海熱	Familial Mediterranean fever
C0031485	MedGen UID:19244	Phenylketonuria	http://www.ncbi.nlm.nih.gov/medgen/19244	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	NANDO:2200467	フェニルケトン尿症	Phenylketonuria
C0268487	MedGen UID:75687	Tyrosinemia type II	http://www.ncbi.nlm.nih.gov/medgen/75687	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010160	http://purl.obolibrary.org/obo/MONDO_0010160	NANDO:2200469	高チロシン血症2型	Tyrosinemia type 2
C0268490	MedGen UID:75688	Tyrosinemia type I	http://www.ncbi.nlm.nih.gov/medgen/75688	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010161	http://purl.obolibrary.org/obo/MONDO_0010161	NANDO:2200468	高チロシン血症1型	Tyrosinemia type 1
C0268623	MedGen UID:78694	Tyrosinemia type III	http://www.ncbi.nlm.nih.gov/medgen/78694	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010162	http://purl.obolibrary.org/obo/MONDO_0010162	NANDO:2200470	高チロシン血症3型	Tyrosinemia type 3
C0392439	MedGen UID:581114	Acrodermatitis continua suppurativa of Hallopeau	http://www.ncbi.nlm.nih.gov/medgen/581114	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013626	http://purl.obolibrary.org/obo/MONDO_0013626	NANDO:2200452	IL36RN欠損症	IL36RN deficiency
C1858361	MedGen UID:346801	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	http://www.ncbi.nlm.nih.gov/medgen/346801	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011462	http://purl.obolibrary.org/obo/MONDO_0011462	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
C3280914	MedGen UID:482544	Familial cold autoinflammatory syndrome 3	http://www.ncbi.nlm.nih.gov/medgen/482544	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013766	http://purl.obolibrary.org/obo/MONDO_0013766	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
C3553961	MedGen UID:766875	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	http://www.ncbi.nlm.nih.gov/medgen/766875	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013944	http://purl.obolibrary.org/obo/MONDO_0013944	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
C4749850	MedGen UID:1661450	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	http://www.ncbi.nlm.nih.gov/medgen/1661450	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016542	http://purl.obolibrary.org/obo/MONDO_0016542	NANDO:2200446	IL10欠損症	IL10 deficiency
C0342731	MedGen UID:87453	Deficiency of mevalonate kinase	http://www.ncbi.nlm.nih.gov/medgen/87453	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017708	http://purl.obolibrary.org/obo/MONDO_0017708	NANDO:2200436	高IgD症候群	Hyper IgD syndrome
C3887654	MedGen UID:854497	Vasculitis due to ADA2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/854497	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014306	http://purl.obolibrary.org/obo/MONDO_0014306	NANDO:2200441	ADA2欠損症	Adenosine deaminase 2 deficiency
C4015067	MedGen UID:863504	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/863504	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014472	http://purl.obolibrary.org/obo/MONDO_0014472	NANDO:2200459	NLRC4異常症	NLRC4 mutation
C1864445	MedGen UID:400532	H syndrome	http://www.ncbi.nlm.nih.gov/medgen/400532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011273	http://purl.obolibrary.org/obo/MONDO_0011273	NANDO:2200457	SLC29A3異常症	SLC29A3 deficiency
C1864497	MedGen UID:351141	Psoriasis 2	http://www.ncbi.nlm.nih.gov/medgen/351141	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011269	http://purl.obolibrary.org/obo/MONDO_0011269	NANDO:2200443	CARD14異常症	CARD14 deficiency
C1864997	MedGen UID:351273	Majeed syndrome	http://www.ncbi.nlm.nih.gov/medgen/351273	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012316	http://purl.obolibrary.org/obo/MONDO_0012316	NANDO:2200453	Majeed症候群	Majeed syndrome
C2748507	MedGen UID:411230	Sterile multifocal osteomyelitis with periostitis and pustulosis	http://www.ncbi.nlm.nih.gov/medgen/411230	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013021	http://purl.obolibrary.org/obo/MONDO_0013021	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
C2751053	MedGen UID:442630	Inflammatory bowel disease 28	http://www.ncbi.nlm.nih.gov/medgen/442630	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013153	http://purl.obolibrary.org/obo/MONDO_0013153	NANDO:2200447	IL-10RA欠損症	IL-10RA deficiency
C2347126	MedGen UID:389393	Microscopic polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/389393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019124	http://purl.obolibrary.org/obo/MONDO_0019124	NANDO:2200426	顕微鏡的多発血管炎	Microscopic polyangiitis
C0028326	MedGen UID:18073	Noonan syndrome	http://www.ncbi.nlm.nih.gov/medgen/18073	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018997	http://purl.obolibrary.org/obo/MONDO_0018997	NANDO:2200413	ヌーナン症候群	Noonan syndrome
C0031036	MedGen UID:14681	Polyarteritis nodosa	http://www.ncbi.nlm.nih.gov/medgen/14681	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019170	http://purl.obolibrary.org/obo/MONDO_0019170	NANDO:2200425	結節性多発血管炎	Polyangiitis nodosa
C0268436	MedGen UID:82805	Pseudohypoaldosteronism type 1	http://www.ncbi.nlm.nih.gov/medgen/82805	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019161	http://purl.obolibrary.org/obo/MONDO_0019161	NANDO:2200368	偽性低アルドステロン症I型	Pseudohypoaldosteronism type I
C0342276	MedGen UID:87433	Maturity onset diabetes mellitus in young	http://www.ncbi.nlm.nih.gov/medgen/87433	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018911	http://purl.obolibrary.org/obo/MONDO_0018911	NANDO:2200462	若年発症成人型糖尿病	Maturity-onset diabetes of the young
C0342543	MedGen UID:90985	Central precocious puberty	http://www.ncbi.nlm.nih.gov/medgen/90985	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019165	http://purl.obolibrary.org/obo/MONDO_0019165	NANDO:2200377	ゴナドトロピン依存性思春期早発症	Gonadotropin-dependent precocious puberty
C0032453	MedGen UID:45995	Relapsing polychondritis	http://www.ncbi.nlm.nih.gov/medgen/45995	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019125	http://purl.obolibrary.org/obo/MONDO_0019125	NANDO:2200428	再発性多発軟骨炎	Relapsing polychondritis
C0039585	MedGen UID:21102	Androgen resistance syndrome	http://www.ncbi.nlm.nih.gov/medgen/21102	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019154	http://purl.obolibrary.org/obo/MONDO_0019154	NANDO:2200391	アンドロゲン不応症	Androgen insensitivity syndrome
C1960469	MedGen UID:450531	Left ventricular noncompaction	http://www.ncbi.nlm.nih.gov/medgen/450531	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018901	http://purl.obolibrary.org/obo/MONDO_0018901	NANDO:2200231	心筋緻密化障害	Non-compaction of the ventricle
C0242292	MedGen UID:69164	McCune-Albright syndrome	http://www.ncbi.nlm.nih.gov/medgen/69164	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018919	http://purl.obolibrary.org/obo/MONDO_0018919	NANDO:2200412	マッキューン・オルブライト症候群	McCune-Albright syndrome
C1449844	MedGen UID:259599	Pseudohypoaldosteronism, type 2	http://www.ncbi.nlm.nih.gov/medgen/259599	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019162	http://purl.obolibrary.org/obo/MONDO_0019162	NANDO:2200369	偽性低アルドステロン症II型	Pseudohypoaldosteronism type II
C4048306	MedGen UID:887211	Multiple endocrine neoplasia, type 2	http://www.ncbi.nlm.nih.gov/medgen/887211	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019003	http://purl.obolibrary.org/obo/MONDO_0019003	NANDO:2200406	多発性内分泌腫瘍2型	Multiple endocrine neoplasia type 2
C1829703	MedGen UID:316820	Carnitine palmitoyl transferase 1A deficiency	http://www.ncbi.nlm.nih.gov/medgen/316820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009705	http://purl.obolibrary.org/obo/MONDO_0009705	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
C0002986	MedGen UID:8083	Fabry disease	http://www.ncbi.nlm.nih.gov/medgen/8083	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010526	http://purl.obolibrary.org/obo/MONDO_0010526	NANDO:2200563	ファブリー病	Fabry disease
C0175703	MedGen UID:61235	Radial aplasia-thrombocytopenia syndrome	http://www.ncbi.nlm.nih.gov/medgen/61235	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010121	http://purl.obolibrary.org/obo/MONDO_0010121	NANDO:2200661	橈骨欠損を伴う血小板減少症	Thrombocytopenia with absent radii
C0220987	MedGen UID:472940	Hereditary orotic aciduria	http://www.ncbi.nlm.nih.gov/medgen/472940	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009797	http://purl.obolibrary.org/obo/MONDO_0009797	NANDO:2200590	オロト酸尿症	Orotic aciduria
C0022716	MedGen UID:44030	Menkes kinky-hair syndrome	http://www.ncbi.nlm.nih.gov/medgen/44030	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010651	http://purl.obolibrary.org/obo/MONDO_0010651	NANDO:2200580	メンケス病	Menkes disease
C0023264	MedGen UID:44095	Leigh syndrome	http://www.ncbi.nlm.nih.gov/medgen/44095	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009723	http://purl.obolibrary.org/obo/MONDO_0009723	NANDO:2200527	リー症候群	Leigh syndrome
C0026705	MedGen UID:7734	Mucopolysaccharidosis, MPS-II	http://www.ncbi.nlm.nih.gov/medgen/7734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010674	http://purl.obolibrary.org/obo/MONDO_0010674	NANDO:2200548	ムコ多糖症II型	Mucopolysaccharidosis type II
C0268233	MedGen UID:82779	Combined deficiency of sialidase AND beta galactosidase	http://www.ncbi.nlm.nih.gov/medgen/82779	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009737	http://purl.obolibrary.org/obo/MONDO_0009737	NANDO:2200557	ガラクトシアリドーシス	Galactosialidosis
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	NANDO:2200566	マルチプルスルファターゼ欠損症	Multiple sulfatase deficiency
C0268353	MedGen UID:82793	Cutis laxa, X-linked	http://www.ncbi.nlm.nih.gov/medgen/82793	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010572	http://purl.obolibrary.org/obo/MONDO_0010572	NANDO:2200581	オクシピタル・ホーン症候群	Occipital horn syndrome
C0268418	MedGen UID:82803	Inborn glycerol kinase deficiency	http://www.ncbi.nlm.nih.gov/medgen/82803	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010613	http://purl.obolibrary.org/obo/MONDO_0010613	NANDO:2200505	グリセロール尿症	Glycerol kinase deficiency
C0268624	MedGen UID:78695	Sulfite oxidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/78695	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010089	http://purl.obolibrary.org/obo/MONDO_0010089	NANDO:2200583	亜硫酸酸化酵素欠損症	Sulfite oxidase deficiency
C0268631	MedGen UID:124340	Succinate-semialdehyde dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/124340	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010083	http://purl.obolibrary.org/obo/MONDO_0010083	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
C0520739	MedGen UID:141708	Pyropoikilocytosis, hereditary	http://www.ncbi.nlm.nih.gov/medgen/141708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009948	http://purl.obolibrary.org/obo/MONDO_0009948	NANDO:2200631	遺伝性熱変形赤血球症	Hereditary pyropoikilocytosis
C0340968	MedGen UID:473069	Pyruvate kinase deficiency of red cells	http://www.ncbi.nlm.nih.gov/medgen/473069	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009950	http://purl.obolibrary.org/obo/MONDO_0009950	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
C0032463	MedGen UID:45996	Acquired polycythemia vera	http://www.ncbi.nlm.nih.gov/medgen/45996	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009891	http://purl.obolibrary.org/obo/MONDO_0009891	NANDO:2200643	真性多血症	Polycythemia vera
C0034341	MedGen UID:18801	Pyruvate carboxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/18801	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009949	http://purl.obolibrary.org/obo/MONDO_0009949	NANDO:2200519	ピルビン酸カルボキシラーゼ欠損症	Pyruvate carboxylase deficiency
C0034960	MedGen UID:11161	Phytanic acid storage disease	http://www.ncbi.nlm.nih.gov/medgen/11161	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009958	http://purl.obolibrary.org/obo/MONDO_0009958	NANDO:2200577	レフサム病	Refsum disease
C0019069	MedGen UID:5501	Hereditary factor VIII deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/5501	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010602	http://purl.obolibrary.org/obo/MONDO_0010602	NANDO:2200676	血友病Ａ	Hemophilia A
C0019202	MedGen UID:42426	Wilson disease	http://www.ncbi.nlm.nih.gov/medgen/42426	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010200	http://purl.obolibrary.org/obo/MONDO_0010200	NANDO:2200579	ウィルソン病	Wilson disease
C0796149	MedGen UID:167107	SCOTT SYNDROME	http://www.ncbi.nlm.nih.gov/medgen/167107	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009885	http://purl.obolibrary.org/obo/MONDO_0009885	NANDO:2200671	スコット症候群	Scott syndrome
C1832200	MedGen UID:330407	Peroxisome biogenesis disorder	http://www.ncbi.nlm.nih.gov/medgen/330407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019234	http://purl.obolibrary.org/obo/MONDO_0019234	NANDO:2200575	ペルオキシソーム形成異常症	Peroxisome biogenesis disorders
C0162309	MedGen UID:57667	Adrenoleukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/57667	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018544	http://purl.obolibrary.org/obo/MONDO_0018544	NANDO:2200576	副腎白質ジストロフィー	Adrenoleukodystrophy
C0162671	MedGen UID:56485	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	http://www.ncbi.nlm.nih.gov/medgen/56485	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010789	http://purl.obolibrary.org/obo/MONDO_0010789	NANDO:2200525	MELAS	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)
C0162672	MedGen UID:56486	MERRF syndrome	http://www.ncbi.nlm.nih.gov/medgen/56486	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010790	http://purl.obolibrary.org/obo/MONDO_0010790	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
C1997910	MedGen UID:372684	Citrin deficiency	http://www.ncbi.nlm.nih.gov/medgen/372684	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016602	http://purl.obolibrary.org/obo/MONDO_0016602	NANDO:2200483	シトリン欠損症	Citrin deficiency
C2931872	MedGen UID:419512	Free sialic acid storage disease	http://www.ncbi.nlm.nih.gov/medgen/419512	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019366	http://purl.obolibrary.org/obo/MONDO_0019366	NANDO:2200572	遊離シアル酸蓄積症	Free Sialic Acid Storage Disease
C0023522	MedGen UID:6071	Metachromatic leukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6071	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018868	http://purl.obolibrary.org/obo/MONDO_0018868	NANDO:2200560	異染性白質ジストロフィー	Metachromatic leukodystrophy
C0026706	MedGen UID:6452	Sanfilippo syndrome	http://www.ncbi.nlm.nih.gov/medgen/6452	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018937	http://purl.obolibrary.org/obo/MONDO_0018937	NANDO:2200549	ムコ多糖症III型	Mucopolysaccharidosis type III
C0026707	MedGen UID:44513	Morquio syndrome	http://www.ncbi.nlm.nih.gov/medgen/44513	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018938	http://purl.obolibrary.org/obo/MONDO_0018938	NANDO:2200550	ムコ多糖症IV型	Mucopolysaccharidosis type IV
C0026755	MedGen UID:10119	Multiple carboxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/10119	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015454	http://purl.obolibrary.org/obo/MONDO_0015454	NANDO:2200500	複合カルボキシラーゼ欠損症	Multiple carboxylase deficiency
C0027877	MedGen UID:10326	Neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/10326	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016295	http://purl.obolibrary.org/obo/MONDO_0016295	NANDO:2200573	神経セロイドリポフスチン症	Neuronal ceroid lipofuscinoses
C0268120	MedGen UID:82772	Adenine phosphoribosyltransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/82772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013869	http://purl.obolibrary.org/obo/MONDO_0013869	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
C0268194	MedGen UID:120618	Phosphoenolpyruvate carboxykinase (GTP) deficiency	http://www.ncbi.nlm.nih.gov/medgen/120618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017320	http://purl.obolibrary.org/obo/MONDO_0017320	NANDO:2200536	ホスホエノールピルビン酸カルボキシキナーゼ欠損症	Phosphoenolpyruvate carboxykinase deficiency
C0268226	MedGen UID:120621	Sialidosis	http://www.ncbi.nlm.nih.gov/medgen/120621	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017734	http://purl.obolibrary.org/obo/MONDO_0017734	NANDO:2200556	シアリドーシス	Sialidosis
C0268274	MedGen UID:78656	GM2 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/78656	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017720	http://purl.obolibrary.org/obo/MONDO_0017720	NANDO:2200559	GM2ガングリオシドーシス	GM2 gangliosidosis
C0268542	MedGen UID:75692	Ornithine carbamoyltransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75692	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010703	http://purl.obolibrary.org/obo/MONDO_0010703	NANDO:2200479	オルニチントランスカルバミラーゼ欠損症	Ornithine transcarbamylase deficiency
C0268579	MedGen UID:75694	Propionic acidemia	http://www.ncbi.nlm.nih.gov/medgen/75694	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011628	http://purl.obolibrary.org/obo/MONDO_0011628	NANDO:2200492	プロピオン酸血症	Propionic acidemia
C0400973	MedGen UID:98324	Inborn disorder of bile acid synthesis	http://www.ncbi.nlm.nih.gov/medgen/98324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019218	http://purl.obolibrary.org/obo/MONDO_0019218	NANDO:2200506	先天性胆汁酸代謝異常症	Inborn errors of bile acid metabolism
C3696376	MedGen UID:777186	3-Methylglutaconic aciduria	http://www.ncbi.nlm.nih.gov/medgen/777186	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017359	http://purl.obolibrary.org/obo/MONDO_0017359	NANDO:2200496	メチルグルタコン酸尿症	Methylglutaconic aciduria
C0085131	MedGen UID:43107	GM1 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/43107	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018149	http://purl.obolibrary.org/obo/MONDO_0018149	NANDO:2200558	GM1ガングリオシドーシス	GM1 Gangliosidosis
C0342770	MedGen UID:87458	Fumarase deficiency	http://www.ncbi.nlm.nih.gov/medgen/87458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011730	http://purl.obolibrary.org/obo/MONDO_0011730	NANDO:2200520	フマラーゼ欠損症	Fumarase deficiency
C0342782	MedGen UID:452449	Mitochondrial DNA depletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/452449	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018158	http://purl.obolibrary.org/obo/MONDO_0018158	NANDO:2200523	ミトコンドリアDNA枯渇症候群	Mitochondrial DNA depletion syndrome
C4551505	MedGen UID:1633312	Methylcrotonyl-CoA carboxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/1633312	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018950	http://purl.obolibrary.org/obo/MONDO_0018950	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
C4551966	MedGen UID:1645412	Encephalopathy due to GLUT1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/1645412	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011724	http://purl.obolibrary.org/obo/MONDO_0011724	NANDO:2200545	グルコーストランスポーター1欠損症	Glucose transporter 1 deficiency
C0033788	MedGen UID:10988	Pseudo-Hurler polydystrophy	http://www.ncbi.nlm.nih.gov/medgen/10988	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018931	http://purl.obolibrary.org/obo/MONDO_0018931	NANDO:2200568	ムコリピドーシスIII型	Mucolipidosis III
C0034345	MedGen UID:19610	Pyruvate dehydrogenase complex deficiency	http://www.ncbi.nlm.nih.gov/medgen/19610	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019169	http://purl.obolibrary.org/obo/MONDO_0019169	NANDO:2200518	ピルビン酸脱水素酵素複合体欠損症	Pyruvate dehydrogenase complex deficiency
C1969443	MedGen UID:370665	Mitochondrial trifunctional protein deficiency	http://www.ncbi.nlm.nih.gov/medgen/370665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012172	http://purl.obolibrary.org/obo/MONDO_0012172	NANDO:2200515	三頭酵素欠損症	Trifunctional protein deficiency
C2751532	MedGen UID:414399	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/414399	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011614	http://purl.obolibrary.org/obo/MONDO_0011614	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
C4316899	MedGen UID:1384792	Cystinosis	http://www.ncbi.nlm.nih.gov/medgen/1384792	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016239	http://purl.obolibrary.org/obo/MONDO_0016239	NANDO:2200571	シスチン症	Cystinosis
C0017205	MedGen UID:42164	Gaucher disease	http://www.ncbi.nlm.nih.gov/medgen/42164	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018150	http://purl.obolibrary.org/obo/MONDO_0018150	NANDO:2200562	ゴーシェ病	Gaucher disease
C0022541	MedGen UID:9618	Kearns-Sayre syndrome	http://www.ncbi.nlm.nih.gov/medgen/9618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010787	http://purl.obolibrary.org/obo/MONDO_0010787	NANDO:2200529	カーンズ・セイヤー症候群	Kearns-Sayre syndrome
C0751436	MedGen UID:199656	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	http://www.ncbi.nlm.nih.gov/medgen/199656	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016543	http://purl.obolibrary.org/obo/MONDO_0016543	NANDO:2200594	ビオプテリン代謝異常症	Tetrahydrobiopterin deficiency
C0751748	MedGen UID:155625	Non-ketotic hyperglycinemia	http://www.ncbi.nlm.nih.gov/medgen/155625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011612	http://purl.obolibrary.org/obo/MONDO_0011612	NANDO:2200476	非ケトーシス型高グリシン血症	Nonketotic hyperglycinemia
C0878682	MedGen UID:168057	Deficiency of ferroxidase	http://www.ncbi.nlm.nih.gov/medgen/168057	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011426	http://purl.obolibrary.org/obo/MONDO_0011426	NANDO:2200582	無セルロプラスミン血症	Aceruloplasminemia
CN305342	MedGen UID:988564	Hypoxanthine-guanine phosphoribosyltransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/988564	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016088	http://purl.obolibrary.org/obo/MONDO_0016088	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
C1853278	MedGen UID:344008	Platelet-type bleeding disorder 8	http://www.ncbi.nlm.nih.gov/medgen/344008	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012354	http://purl.obolibrary.org/obo/MONDO_0012354	NANDO:2200669	ADP受容体異常症	ADP receptor deficiencies
C1854273	MedGen UID:340183	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	http://www.ncbi.nlm.nih.gov/medgen/340183	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011555	http://purl.obolibrary.org/obo/MONDO_0011555	NANDO:2200660	橈骨尺骨融合を伴う血小板減少症	Congenital thrombocytopenia with radio-ulnar synostosis
C0002876	MedGen UID:8064	Congenital dyserythropoietic anemia	http://www.ncbi.nlm.nih.gov/medgen/8064	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019403	http://purl.obolibrary.org/obo/MONDO_0019403	NANDO:2200615	先天性赤血球形成異常性貧血	Congenital dyserythropoietic anemia
C0002895	MedGen UID:287	Hb SS disease	http://www.ncbi.nlm.nih.gov/medgen/287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011382	http://purl.obolibrary.org/obo/MONDO_0011382	NANDO:2200624	鎌状赤血球症	Sickle cell disease
C0002896	MedGen UID:8067	Sideroblastic anemia	http://www.ncbi.nlm.nih.gov/medgen/8067	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015194	http://purl.obolibrary.org/obo/MONDO_0015194	NANDO:2200616	鉄芽球性貧血	Sideroblastic anemia
C0221757	MedGen UID:67461	Alpha-1-antitrypsin deficiency	http://www.ncbi.nlm.nih.gov/medgen/67461	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013282	http://purl.obolibrary.org/obo/MONDO_0013282	NANDO:2200611	α1-アンチトリプシン欠損症	Alpha-1-antitrypsin deficiency
C1260899	MedGen UID:266045	Diamond-Blackfan anemia	http://www.ncbi.nlm.nih.gov/medgen/266045	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015253	http://purl.obolibrary.org/obo/MONDO_0015253	NANDO:2200614	先天性赤芽球癆	Congenital red cell aplasia
C1264008	MedGen UID:688249	Cold agglutinin disease	http://www.ncbi.nlm.nih.gov/medgen/688249	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018922	http://purl.obolibrary.org/obo/MONDO_0018922	NANDO:2200618	寒冷凝集素症	Cold agglutinin disease
C1275125	MedGen UID:698423	Inherited porphyria	http://www.ncbi.nlm.nih.gov/medgen/698423	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019142	http://purl.obolibrary.org/obo/MONDO_0019142	NANDO:2200610	先天性ポルフィリン症	Congenital porphyria
C3280120	MedGen UID:481750	Platelet-type bleeding disorder 11	http://www.ncbi.nlm.nih.gov/medgen/481750	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013623	http://purl.obolibrary.org/obo/MONDO_0013623	NANDO:2200670	コラーゲン受容体異常症	Abnormalities in platelet collagen receptors
C3554663	MedGen UID:767577	Platelet-type bleeding disorder 15	http://www.ncbi.nlm.nih.gov/medgen/767577	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014078	http://purl.obolibrary.org/obo/MONDO_0014078	NANDO:2200665	αアクチニン1異常症	ACTN1 mutations
C0151691	MedGen UID:57731	Decreased HDL cholesterol concentration	http://www.ncbi.nlm.nih.gov/medgen/57731	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017773	http://purl.obolibrary.org/obo/MONDO_0017773	NANDO:2200605	高比重リポタンパク欠乏症	HDL deficiency
C0342708	MedGen UID:137977	Gamma-aminobutyric acid transaminase deficiency	http://www.ncbi.nlm.nih.gov/medgen/137977	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013166	http://purl.obolibrary.org/obo/MONDO_0013166	NANDO:2200598	GABAアミノ基転移酵素欠損症	Gamma-amino butyrate aminotransferase deficiency
C3854603	MedGen UID:1720701	Fetal and neonatal alloimmune thrombocytopenia	http://www.ncbi.nlm.nih.gov/medgen/1720701	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019415	http://purl.obolibrary.org/obo/MONDO_0019415	NANDO:2200647	新生児同種免疫性血小板減少症	Neonatal alloimmune thrombocytopenia
C0034155	MedGen UID:48266	Thrombotic thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/48266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018896	http://purl.obolibrary.org/obo/MONDO_0018896	NANDO:2200649	血栓性血小板減少性紫斑病	Thrombotic thrombocytopenic purpura
C0037889	MedGen UID:52450	Hereditary spherocytosis	http://www.ncbi.nlm.nih.gov/medgen/52450	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019350	http://purl.obolibrary.org/obo/MONDO_0019350	NANDO:2200622	遺伝性球状赤血球症	Hereditary spherocytosis
C0272051	MedGen UID:124415	Xerocytosis	http://www.ncbi.nlm.nih.gov/medgen/124415	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017910	http://purl.obolibrary.org/obo/MONDO_0017910	NANDO:2200633	Stomatocytic Xerocytosis	Stomatocytic xerocytosis
C0272285	MedGen UID:124423	Heparin-induced thrombocytopenia	http://www.ncbi.nlm.nih.gov/medgen/124423	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018048	http://purl.obolibrary.org/obo/MONDO_0018048	NANDO:2200648	ヘパリン起因性血小板減少症	Heparin-induced thrombocytopenia
C0272317	MedGen UID:124425	Congenital prothrombin deficiency	http://www.ncbi.nlm.nih.gov/medgen/124425	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013361	http://purl.obolibrary.org/obo/MONDO_0013361	NANDO:2200673	先天性プロトロンビン欠乏症	Hypoprothrombinemia
C0013902	MedGen UID:41747	Hereditary elliptocytosis	http://www.ncbi.nlm.nih.gov/medgen/41747	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017319	http://purl.obolibrary.org/obo/MONDO_0017319	NANDO:2200630	遺伝性楕円赤血球症	Hereditary elliptocytosis
C0015625	MedGen UID:41967	Fanconi anemia	http://www.ncbi.nlm.nih.gov/medgen/41967	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019391	http://purl.obolibrary.org/obo/MONDO_0019391	NANDO:2200652	ファンコニ貧血	Fanconi anemia
C0019021	MedGen UID:6789	Hemoglobin C disease	http://www.ncbi.nlm.nih.gov/medgen/6789	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016242	http://purl.obolibrary.org/obo/MONDO_0016242	NANDO:2200635	ヘモグロビンC症	Hemoglobin C disease
C1291564	MedGen UID:220945	Deficiency of aromatic-L-amino-acid decarboxylase	http://www.ncbi.nlm.nih.gov/medgen/220945	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012084	http://purl.obolibrary.org/obo/MONDO_0012084	NANDO:2200596	芳香族L－アミノ酸脱炭酸酵素欠損症	Aromatic L-amino acid decarboxylase deficiency
C1846545	MedGen UID:339548	Autoimmune lymphoproliferative syndrome type 2B	http://www.ncbi.nlm.nih.gov/medgen/339548	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011804	http://purl.obolibrary.org/obo/MONDO_0011804	NANDO:2200740	カスペース8欠損症	Caspase-8 deficiency
C1853392	MedGen UID:377894	Immunodeficiency due to CD25 deficiency	http://www.ncbi.nlm.nih.gov/medgen/377894	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011664	http://purl.obolibrary.org/obo/MONDO_0011664	NANDO:2200736	CD25欠損症	Immunodeficiency 41 with lymphoproliferation and autoimmunity
C0002874	MedGen UID:8063	Aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/8063	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015909	http://purl.obolibrary.org/obo/MONDO_0015909	NANDO:2200693	再生不良性貧血	Aplastic anemia
C0008533	MedGen UID:945	Hereditary factor IX deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/945	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010604	http://purl.obolibrary.org/obo/MONDO_0010604	NANDO:2200677	血友病Ｂ	Hemophilia B
C0009447	MedGen UID:40407	Common variable immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/40407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015517	http://purl.obolibrary.org/obo/MONDO_0015517	NANDO:2200717	分類不能型免疫不全症	Common variable immunodeficiency
C0221026	MedGen UID:65123	X-linked agammaglobulinemia	http://www.ncbi.nlm.nih.gov/medgen/65123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010421	http://purl.obolibrary.org/obo/MONDO_0010421	NANDO:2200716	X連鎖無ガンマグロブリン血症	X-linked agammaglobulinemia
C2677792	MedGen UID:394368	RIDDLE syndrome	http://www.ncbi.nlm.nih.gov/medgen/394368	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012764	http://purl.obolibrary.org/obo/MONDO_0012764	NANDO:2200710	RIDDLE症候群	RIDDLE syndrome
C3150649	MedGen UID:461999	Syndromic multisystem autoimmune disease due to ITCH deficiency	http://www.ncbi.nlm.nih.gov/medgen/461999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013245	http://purl.obolibrary.org/obo/MONDO_0013245	NANDO:2200739	ITCH欠損症	Syndromic multisystem autoimmune disease due to Itch deficiency
C3151062	MedGen UID:462412	FADD-related immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/462412	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013408	http://purl.obolibrary.org/obo/MONDO_0013408	NANDO:2200741	FADD欠損症	Fas-associated death domain protein deficiency
C0265965	MedGen UID:78580	Dyskeratosis congenita	http://www.ncbi.nlm.nih.gov/medgen/78580	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015780	http://purl.obolibrary.org/obo/MONDO_0015780	NANDO:2200715	先天性角化異常症	Dyskeratosis congenita
C0268125	MedGen UID:75653	Purine-nucleoside phosphorylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013171	http://purl.obolibrary.org/obo/MONDO_0013171	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
C0549463	MedGen UID:107498	X-linked lymphoproliferative syndrome	http://www.ncbi.nlm.nih.gov/medgen/107498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010627	http://purl.obolibrary.org/obo/MONDO_0010627	NANDO:2200725	X連鎖リンパ増殖症候群	X-linked lymphoproliferative syndrome
C1279481	MedGen UID:220906	X-linked severe combined immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/220906	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010315	http://purl.obolibrary.org/obo/MONDO_0010315	NANDO:2200694	X連鎖重症複合免疫不全症	X-linked severe combined immunodeficiency
C1858266	MedGen UID:346868	MHC class I deficiency	http://www.ncbi.nlm.nih.gov/medgen/346868	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011476	http://purl.obolibrary.org/obo/MONDO_0011476	NANDO:2200701	MHCクラスI欠損症	MHC class I deficiency
C1858723	MedGen UID:388129	Poikiloderma with neutropenia	http://www.ncbi.nlm.nih.gov/medgen/388129	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011405	http://purl.obolibrary.org/obo/MONDO_0011405	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
C3279824	MedGen UID:481454	Recurrent infections associated with rare immunoglobulin isotypes deficiency	http://www.ncbi.nlm.nih.gov/medgen/481454	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013576	http://purl.obolibrary.org/obo/MONDO_0013576	NANDO:2200719	IgGサブクラス欠損症	Isolated IgG subclass deficiency
C3552634	MedGen UID:765548	Lymphoproliferative syndrome 1	http://www.ncbi.nlm.nih.gov/medgen/765548	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013081	http://purl.obolibrary.org/obo/MONDO_0013081	NANDO:2200734	ITK欠損症	IL-2-inducible T-cell kinase deficiency
C1837065	MedGen UID:323058	Susceptibility to respiratory infections associated with CD8alpha chain mutation	http://www.ncbi.nlm.nih.gov/medgen/323058	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012161	http://purl.obolibrary.org/obo/MONDO_0012161	NANDO:2200699	CD8欠損症	CD8 deficiency
C1837174	MedGen UID:332383	Familial hemophagocytic lymphohistiocytosis 3	http://www.ncbi.nlm.nih.gov/medgen/332383	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012146	http://purl.obolibrary.org/obo/MONDO_0012146	NANDO:2200729	UNC13D/Munc13-4欠損症	UNC13D/Munc13-4 deficiency
C1842362	MedGen UID:374912	Hermansky-Pudlak syndrome 2	http://www.ncbi.nlm.nih.gov/medgen/374912	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011997	http://purl.obolibrary.org/obo/MONDO_0011997	NANDO:2200733	Hermansky-Pudlak症候群2型	Hermansky-Pudlak syndrome type 2
C1842763	MedGen UID:375009	Spondyloenchondrodysplasia with immune dysregulation	http://www.ncbi.nlm.nih.gov/medgen/375009	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011939	http://purl.obolibrary.org/obo/MONDO_0011939	NANDO:2200744	SPENCDI	Spondylo enchondro-dysplasiawith immune dysregulation
C5575025	MedGen UID:1809040	Combined immunodeficiency due to ZAP70 deficiency	http://www.ncbi.nlm.nih.gov/medgen/1809040	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010023	http://purl.obolibrary.org/obo/MONDO_0010023	NANDO:2200700	ZAP-70欠損症	ZAP-70 deficiency
C0043194	MedGen UID:21921	Wiskott-Aldrich syndrome	http://www.ncbi.nlm.nih.gov/medgen/21921	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010518	http://purl.obolibrary.org/obo/MONDO_0010518	NANDO:2200704	ウィスコット・オルドリッチ症候群	Wiskott-Aldrich syndrome
C0272167	MedGen UID:124417	Reticular dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/124417	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009973	http://purl.obolibrary.org/obo/MONDO_0009973	NANDO:2200695	細網異形成症	Reticular dysgenesis
C0272238	MedGen UID:124421	Transient hypogammaglobulinemia of infancy	http://www.ncbi.nlm.nih.gov/medgen/124421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015698	http://purl.obolibrary.org/obo/MONDO_0015698	NANDO:2200722	乳児一過性低ガンマグロブリン血症	Transient hypogammaglobulinemia of infancy with normal numbers of B cells
C1863727	MedGen UID:400366	Familial hemophagocytic lymphohistiocytosis 2	http://www.ncbi.nlm.nih.gov/medgen/400366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011337	http://purl.obolibrary.org/obo/MONDO_0011337	NANDO:2200728	パーフォリン欠損症	Perforin deficiency
C1863728	MedGen UID:350245	Familial hemophagocytic lymphohistiocytosis 4	http://www.ncbi.nlm.nih.gov/medgen/350245	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011336	http://purl.obolibrary.org/obo/MONDO_0011336	NANDO:2200730	Syntaxin11欠損症	Syntaxin 11 deficiency
C1868679	MedGen UID:357030	Griscelli syndrome type 2	http://www.ncbi.nlm.nih.gov/medgen/357030	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011872	http://purl.obolibrary.org/obo/MONDO_0011872	NANDO:2200732	Griscelli症候群2型	Griscelli syndrome type 2
C2700553	MedGen UID:398130	Histiocytic medullary reticulosis	http://www.ncbi.nlm.nih.gov/medgen/398130	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011338	http://purl.obolibrary.org/obo/MONDO_0011338	NANDO:2200697	オーメン症候群	Omenn syndrome
C2750067	MedGen UID:412870	Congenital plasminogen activator inhibitor type 1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/412870	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013227	http://purl.obolibrary.org/obo/MONDO_0013227	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
C2751293	MedGen UID:416514	Familial hemophagocytic lymphohistiocytosis 5	http://www.ncbi.nlm.nih.gov/medgen/416514	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013135	http://purl.obolibrary.org/obo/MONDO_0013135	NANDO:2200731	STXBP2/Munc18-2欠損症	STXBP2/Munc18-2 deficiency
C2752081	MedGen UID:414178	Alpha-2-plasmin inhibitor deficiency	http://www.ncbi.nlm.nih.gov/medgen/414178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009883	http://purl.obolibrary.org/obo/MONDO_0009883	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
C0574083	MedGen UID:107893	3-Methylglutaconic aciduria type 2	http://www.ncbi.nlm.nih.gov/medgen/107893	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010543	http://purl.obolibrary.org/obo/MONDO_0010543	NANDO:2200751	Barth症候群	Barth syndrome
CN305372	MedGen UID:987194	Inherited prekallikrein deficiency	http://www.ncbi.nlm.nih.gov/medgen/987194	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012901	http://purl.obolibrary.org/obo/MONDO_0012901	NANDO:2200684	先天性プレカリクレイン欠乏症	Congenital prekallikrein deficiency
C0001175	MedGen UID:99	AIDS	http://www.ncbi.nlm.nih.gov/medgen/99	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012268	http://purl.obolibrary.org/obo/MONDO_0012268	NANDO:2200809	後天性免疫不全症候群	Acquired immune deficiency syndrome
C0006845	MedGen UID:2426	Chronic mucocutaneous candidiasis	http://www.ncbi.nlm.nih.gov/medgen/2426	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015279	http://purl.obolibrary.org/obo/MONDO_0015279	NANDO:2200764	慢性皮膚粘膜カンジダ症	Chronic mucocutaneous candidiasis
C0009207	MedGen UID:40363	Cockayne syndrome	http://www.ncbi.nlm.nih.gov/medgen/40363	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016006	http://purl.obolibrary.org/obo/MONDO_0016006	NANDO:2200832	コケイン症候群	Cockayne syndrome
C2676232	MedGen UID:436639	Complement component 6 deficiency	http://www.ncbi.nlm.nih.gov/medgen/436639	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012908	http://purl.obolibrary.org/obo/MONDO_0012908	NANDO:2200784	C6 欠損症	C6 deficiency
C2676767	MedGen UID:393582	Primary CD59 deficiency	http://www.ncbi.nlm.nih.gov/medgen/393582	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012858	http://purl.obolibrary.org/obo/MONDO_0012858	NANDO:2200804	CD59欠損症	Primary CD59 deficiency
C2677092	MedGen UID:383023	Pyogenic bacterial infections due to MyD88 deficiency	http://www.ncbi.nlm.nih.gov/medgen/383023	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012839	http://purl.obolibrary.org/obo/MONDO_0012839	NANDO:2200763	MyD88欠損症	MyD88 deficiency
C3150902	MedGen UID:462252	C1Q deficiency	http://www.ncbi.nlm.nih.gov/medgen/462252	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013343	http://purl.obolibrary.org/obo/MONDO_0013343	NANDO:2200777	C1q 欠損症	C1q deficiency
C3151071	MedGen UID:462421	Complement component 3 deficiency	http://www.ncbi.nlm.nih.gov/medgen/462421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013417	http://purl.obolibrary.org/obo/MONDO_0013417	NANDO:2200782	C3 欠損症	C3 deficiency
C3151078	MedGen UID:462428	Complement component C1s deficiency	http://www.ncbi.nlm.nih.gov/medgen/462428	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013419	http://purl.obolibrary.org/obo/MONDO_0013419	NANDO:2200779	C1s 欠損症	C1s deficiency
C3151085	MedGen UID:462435	Immunodeficiency due to MASP-2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/462435	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013423	http://purl.obolibrary.org/obo/MONDO_0013423	NANDO:2200793	MASP2 欠損症	MASP2 deficiency
C3151189	MedGen UID:462539	Complement component 9 deficiency	http://www.ncbi.nlm.nih.gov/medgen/462539	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013445	http://purl.obolibrary.org/obo/MONDO_0013445	NANDO:2200787	C9 欠損症	C9 deficiency
C3151226	MedGen UID:462576	Immunodeficiency due to ficolin3 deficiency	http://www.ncbi.nlm.nih.gov/medgen/462576	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013467	http://purl.obolibrary.org/obo/MONDO_0013467	NANDO:2200794	Ficolin3 関連免疫不全症	Ficolin 3 Deficiency
C0266484	MedGen UID:78606	Schizencephaly	http://www.ncbi.nlm.nih.gov/medgen/78606	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010011	http://purl.obolibrary.org/obo/MONDO_0010011	NANDO:2200818	裂脳症	Schizencephaly
C0398764	MedGen UID:97989	Recurrent Neisseria infections due to factor D deficiency	http://www.ncbi.nlm.nih.gov/medgen/97989	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013487	http://purl.obolibrary.org/obo/MONDO_0013487	NANDO:2200788	Factor D 欠損症	Factor D deficiency
C0398777	MedGen UID:96024	Factor H deficiency	http://www.ncbi.nlm.nih.gov/medgen/96024	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012350	http://purl.obolibrary.org/obo/MONDO_0012350	NANDO:2200791	Factor H 欠損症	Factor H deficiency
C3463916	MedGen UID:483045	Factor I deficiency	http://www.ncbi.nlm.nih.gov/medgen/483045	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012594	http://purl.obolibrary.org/obo/MONDO_0012594	NANDO:2200790	Factor I 欠損症	Factor In deficiency
C3542922	MedGen UID:762276	Immunodeficiency, common variable, 7	http://www.ncbi.nlm.nih.gov/medgen/762276	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013862	http://purl.obolibrary.org/obo/MONDO_0013862	NANDO:2200801	CR2欠損症	CD21 deficiency
C3809950	MedGen UID:816280	Complement factor b deficiency	http://www.ncbi.nlm.nih.gov/medgen/816280	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014255	http://purl.obolibrary.org/obo/MONDO_0014255	NANDO:2200797	B因子欠損症	Factor B deficiency
C4225260	MedGen UID:904009	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	http://www.ncbi.nlm.nih.gov/medgen/904009	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014715	http://purl.obolibrary.org/obo/MONDO_0014715	NANDO:2200770	STAT2欠損症	STAT2 deficiency
C0079541	MedGen UID:38214	Holoprosencephaly sequence	http://www.ncbi.nlm.nih.gov/medgen/38214	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016296	http://purl.obolibrary.org/obo/MONDO_0016296	NANDO:2200819	全前脳胞症	Holoprosencephaly
C0343047	MedGen UID:91003	Complement component 5 deficiency	http://www.ncbi.nlm.nih.gov/medgen/91003	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012295	http://purl.obolibrary.org/obo/MONDO_0012295	NANDO:2200783	C5 欠損症	C5 deficiency
C0685889	MedGen UID:151935	Familial isolated congenital asplenia	http://www.ncbi.nlm.nih.gov/medgen/151935	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010066	http://purl.obolibrary.org/obo/MONDO_0010066	NANDO:2200775	孤立性先天性無脾症	Isolated congenital asplenia
C1835829	MedGen UID:372135	Primary immunodeficiency syndrome due to p14 deficiency	http://www.ncbi.nlm.nih.gov/medgen/372135	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012559	http://purl.obolibrary.org/obo/MONDO_0012559	NANDO:2200752	P14欠損症	P14 deficiency
C1839454	MedGen UID:333322	Properdin deficiency, X-linked	http://www.ncbi.nlm.nih.gov/medgen/333322	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010713	http://purl.obolibrary.org/obo/MONDO_0010713	NANDO:2200789	Properdin 欠損症	Properdin deficiency
C1843256	MedGen UID:375137	Immunodeficiency 67	http://www.ncbi.nlm.nih.gov/medgen/375137	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011888	http://purl.obolibrary.org/obo/MONDO_0011888	NANDO:2200762	IRAK4欠損症	IRAK4 deficiency
C1845987	MedGen UID:335314	X-linked severe congenital neutropenia	http://www.ncbi.nlm.nih.gov/medgen/335314	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010294	http://purl.obolibrary.org/obo/MONDO_0010294	NANDO:2200753	X連鎖好中球減少症	X linked severe congenital neutropenia
C1846006	MedGen UID:375786	Ectodermal dysplasia and immune deficiency	http://www.ncbi.nlm.nih.gov/medgen/375786	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010293	http://purl.obolibrary.org/obo/MONDO_0010293	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
C4014605	MedGen UID:863042	Polyglucosan body myopathy type 1	http://www.ncbi.nlm.nih.gov/medgen/863042	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014389	http://purl.obolibrary.org/obo/MONDO_0014389	NANDO:2200766	HOIL1欠損症	HOIL-1 deficiency
C0035372	MedGen UID:48441	Rett syndrome	http://www.ncbi.nlm.nih.gov/medgen/48441	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010726	http://purl.obolibrary.org/obo/MONDO_0010726	NANDO:2200825	レット症候群	Rett syndrome
C0043119	MedGen UID:12147	Werner syndrome	http://www.ncbi.nlm.nih.gov/medgen/12147	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010196	http://purl.obolibrary.org/obo/MONDO_0010196	NANDO:2200831	ウェルナー症候群	Werner syndrome
C0272170	MedGen UID:124418	Shwachman syndrome	http://www.ncbi.nlm.nih.gov/medgen/124418	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009833	http://purl.obolibrary.org/obo/MONDO_0009833	NANDO:2200756	シュワッハマン・ダイアモンド症候群	Shwachman-Diamond syndrome
C0276226	MedGen UID:75794	Herpes simplex encephalitis	http://www.ncbi.nlm.nih.gov/medgen/75794	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012521	http://purl.obolibrary.org/obo/MONDO_0012521	NANDO:2200772	単純ヘルペス脳炎	Herpes simplex encephalitis
C1864694	MedGen UID:355270	Complement component 7 deficiency	http://www.ncbi.nlm.nih.gov/medgen/355270	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012412	http://purl.obolibrary.org/obo/MONDO_0012412	NANDO:2200785	C7 欠損症	C7 deficiency
C1864947	MedGen UID:351256	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	http://www.ncbi.nlm.nih.gov/medgen/351256	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012383	http://purl.obolibrary.org/obo/MONDO_0012383	NANDO:2200771	MCM4遺伝子異常症	MCM4 mutation
C1865285	MedGen UID:355421	Megalencephaly-capillary malformation-polymicrogyria syndrome	http://www.ncbi.nlm.nih.gov/medgen/355421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011240	http://purl.obolibrary.org/obo/MONDO_0011240	NANDO:2200823	巨脳症－毛細血管奇形症候群	Megalencephaly-capillary malformation syndrome
C2752040	MedGen UID:414167	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	http://www.ncbi.nlm.nih.gov/medgen/414167	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013040	http://purl.obolibrary.org/obo/MONDO_0013040	NANDO:2200803	CD46欠損症	CD46 deficiency
C1540912	MedGen UID:280990	Hypereosinophilic syndrome	http://www.ncbi.nlm.nih.gov/medgen/280990	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015691	http://purl.obolibrary.org/obo/MONDO_0015691	NANDO:2200806	特発性好酸球増加症	Hypereosinophilic syndrome
C5679612	MedGen UID:1826007	Joubert syndrome and related disorders	http://www.ncbi.nlm.nih.gov/medgen/1826007	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015369	http://purl.obolibrary.org/obo/MONDO_0015369	NANDO:2200824	ジュベール症候群関連疾患	Joubert syndrome related disorders
C1853118	MedGen UID:343974	Severe congenital neutropenia	http://www.ncbi.nlm.nih.gov/medgen/343974	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018542	http://purl.obolibrary.org/obo/MONDO_0018542	NANDO:2200745	重症先天性好中球減少症	Severe congenital neutropenia
C0266456	MedGen UID:82743	Meningoencephalocele	http://www.ncbi.nlm.nih.gov/medgen/82743	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017079	http://purl.obolibrary.org/obo/MONDO_0017079	NANDO:2200813	髄膜脳瘤	Meningoencephalocele
C0266463	MedGen UID:78604	Lissencephaly	http://www.ncbi.nlm.nih.gov/medgen/78604	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018838	http://purl.obolibrary.org/obo/MONDO_0018838	NANDO:2200817	滑脳症	Lissencephaly
C1856883	MedGen UID:384006	Combined deficiency of factor V and factor VIII	http://www.ncbi.nlm.nih.gov/medgen/384006	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018175	http://purl.obolibrary.org/obo/MONDO_0018175	NANDO:2200686	先天性第VおよびVIII因子合併欠乏症	Combined deficiency of coagulation factors V and VIII
C3266863	MedGen UID:473805	Inherited susceptibility to mycobacterial diseases	http://www.ncbi.nlm.nih.gov/medgen/473805	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019146	http://purl.obolibrary.org/obo/MONDO_0019146	NANDO:2200759	メンデル遺伝型マイコバクテリア易感染症	Mendelian susceptibility to mycobacterial disease
C0598221	MedGen UID:671121	Hereditary thrombophilia due to congenital protein C deficiency	http://www.ncbi.nlm.nih.gov/medgen/671121	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019145	http://purl.obolibrary.org/obo/MONDO_0019145	NANDO:2200689	先天性プロテインC欠乏症	Protein C deficiency
C3887645	MedGen UID:854488	Hyper-IgE syndrome	http://www.ncbi.nlm.nih.gov/medgen/854488	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018037	http://purl.obolibrary.org/obo/MONDO_0018037	NANDO:2200713	高IgE症候群	Hyper-IgE syndrome
C0272187	MedGen UID:124419	Leukocyte adhesion deficiency	http://www.ncbi.nlm.nih.gov/medgen/124419	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017570	http://purl.obolibrary.org/obo/MONDO_0017570	NANDO:2200755	白血球接着不全症	Leukocyte adhesion deficiency
C4303860	MedGen UID:929529	3MC syndrome	http://www.ncbi.nlm.nih.gov/medgen/929529	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017398	http://purl.obolibrary.org/obo/MONDO_0017398	NANDO:2200792	3MC 症候群	Malpuech-Michels-Mingarelli-Carnevale syndrome
C0018203	MedGen UID:5377	Chronic granulomatous disease	http://www.ncbi.nlm.nih.gov/medgen/5377	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018305	http://purl.obolibrary.org/obo/MONDO_0018305	NANDO:2200757	慢性肉芽腫症	Chronic granulomatous disease
C0020256	MedGen UID:9336	Congenital hydrocephalus	http://www.ncbi.nlm.nih.gov/medgen/9336	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016349	http://purl.obolibrary.org/obo/MONDO_0016349	NANDO:2200822	先天性水頭症	Congenital hydrocephalus
C5680014	MedGen UID:1826142	Eosinophilic gastrointestinal disease	http://www.ncbi.nlm.nih.gov/medgen/1826142	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018438	http://purl.obolibrary.org/obo/MONDO_0018438	NANDO:2200807	好酸球性消化管疾患	Eosinophilic gastrointestinal disorders
CN301239	MedGen UID:985772	Autoimmune lymphoproliferative syndrome	http://www.ncbi.nlm.nih.gov/medgen/985772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017979	http://purl.obolibrary.org/obo/MONDO_0017979	NANDO:2200726	自己免疫性リンパ増殖症候群	Autoimmune lymphoproliferative syndrome
C1850674	MedGen UID:340597	Congenital multicore myopathy with external ophthalmoplegia	http://www.ncbi.nlm.nih.gov/medgen/340597	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009712	http://purl.obolibrary.org/obo/MONDO_0009712	NANDO:2200872	ミニコア病	Minicore myopathy
C0206307	MedGen UID:61565	Spongy degeneration of central nervous system	http://www.ncbi.nlm.nih.gov/medgen/61565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010079	http://purl.obolibrary.org/obo/MONDO_0010079	NANDO:2200834	カナバン病	Canavan disease
C0410189	MedGen UID:96078	Emery-Dreifuss muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/96078	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016830	http://purl.obolibrary.org/obo/MONDO_0016830	NANDO:2200857	エメリー・ドレイフス型筋ジストロフィー	Emery-Dreifuss muscular dystrophy
C0026654	MedGen UID:7726	Moyamoya disease	http://www.ncbi.nlm.nih.gov/medgen/7726	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016820	http://purl.obolibrary.org/obo/MONDO_0016820	NANDO:2200850	もやもや病	Moyamoya disease
C0027126	MedGen UID:10239	Myotonic dystrophy	http://www.ncbi.nlm.nih.gov/medgen/10239	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016107	http://purl.obolibrary.org/obo/MONDO_0016107	NANDO:2200864	筋強直性ジストロフィー	Myotonic dystrophy
C0027888	MedGen UID:45066	Hereditary motor and sensory neuropathy	http://www.ncbi.nlm.nih.gov/medgen/45066	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015358	http://purl.obolibrary.org/obo/MONDO_0015358	NANDO:2200855	遺伝性運動感覚ニューロパチー	Hereditary Motor and Sensory Neuropathy
C0546264	MedGen UID:108177	Congenital myopathy with fiber type disproportion	http://www.ncbi.nlm.nih.gov/medgen/108177	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009711	http://purl.obolibrary.org/obo/MONDO_0009711	NANDO:2200868	先天性筋線維不均等症	Congenital fiber-type disproportion myopathy
C1263858	MedGen UID:224728	Merosin deficient congenital muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/224728	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011925	http://purl.obolibrary.org/obo/MONDO_0011925	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
C1858854	MedGen UID:347006	Megalencephalic leukoencephalopathy with subcortical cysts	http://www.ncbi.nlm.nih.gov/medgen/347006	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011391	http://purl.obolibrary.org/obo/MONDO_0011391	NANDO:2200837	皮質下嚢胞をもつ大頭型白質脳症	Megaloencephalic leukoencephalopathy with subcortical cysts
C3489724	MedGen UID:483677	Aicardi-Goutieres syndrome 2	http://www.ncbi.nlm.nih.gov/medgen/483677	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012429	http://purl.obolibrary.org/obo/MONDO_0012429	NANDO:2200894	RNASEH2B欠損症	Aicardi-Goutieres syndrome 2
C3539013	MedGen UID:761287	Aicardi-Goutieres syndrome 6	http://www.ncbi.nlm.nih.gov/medgen/761287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014007	http://purl.obolibrary.org/obo/MONDO_0014007	NANDO:2200898	ADAR1欠損症	Aicardi-Goutieres syndrome 6
C0338488	MedGen UID:90925	Alternating hemiplegia of childhood	http://www.ncbi.nlm.nih.gov/medgen/90925	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016241	http://purl.obolibrary.org/obo/MONDO_0016241	NANDO:2200883	小児交互性片麻痺	Alternating hemiplegia of childhood
C0686353	MedGen UID:151940	Limb-girdle muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/151940	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016971	http://purl.obolibrary.org/obo/MONDO_0016971	NANDO:2200858	肢帯型筋ジストロフィー	Limb-girdle muscular dystrophy
C1835916	MedGen UID:324389	Aicardi-Goutieres syndrome 3	http://www.ncbi.nlm.nih.gov/medgen/324389	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012471	http://purl.obolibrary.org/obo/MONDO_0012471	NANDO:2200895	RNASEH2C欠損症	Aicardi-Goutieres syndrome 3
C1845055	MedGen UID:337145	Alpha thalassemia-X-linked intellectual disability syndrome	http://www.ncbi.nlm.nih.gov/medgen/337145	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010519	http://purl.obolibrary.org/obo/MONDO_0010519	NANDO:2200839	ATR-X症候群	ATR-X syndrome
C0035921	MedGen UID:19841	Congenital rubella syndrome	http://www.ncbi.nlm.nih.gov/medgen/19841	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017361	http://purl.obolibrary.org/obo/MONDO_0017361	NANDO:2200890	先天性風疹症候群	Congenital rubella syndrome
C0036391	MedGen UID:19892	Schwartz-Jampel syndrome	http://www.ncbi.nlm.nih.gov/medgen/19892	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009717	http://purl.obolibrary.org/obo/MONDO_0009717	NANDO:2200876	シュワルツ・ヤンペル症候群	Schwartz-Jampel syndrome
C0038522	MedGen UID:52527	Subacute sclerosing panencephalitis	http://www.ncbi.nlm.nih.gov/medgen/52527	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	NANDO:2200899	亜急性硬化性全脳炎	Subacute sclerosing panencephalitis
C0276225	MedGen UID:82910	Congenital herpes simplex virus infection	http://www.ncbi.nlm.nih.gov/medgen/82910	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017381	http://purl.obolibrary.org/obo/MONDO_0017381	NANDO:2200889	先天性ヘルペスウイルス感染症	Congenital herpes simplex virus infection
C2749659	MedGen UID:413116	Aicardi-Goutieres syndrome 5	http://www.ncbi.nlm.nih.gov/medgen/413116	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013059	http://purl.obolibrary.org/obo/MONDO_0013059	NANDO:2200897	SAMHD1欠損症	Aicardi-Goutieres syndrome 5
C2750785	MedGen UID:413043	Congenital muscular dystrophy due to LMNA mutation	http://www.ncbi.nlm.nih.gov/medgen/413043	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013178	http://purl.obolibrary.org/obo/MONDO_0013178	NANDO:2200866	LMNA遺伝子変異型筋ジストロフィー	LMNA-related congenital muscular dystrophy
C2930868	MedGen UID:418934	Rasmussen subacute encephalitis	http://www.ncbi.nlm.nih.gov/medgen/418934	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016019	http://purl.obolibrary.org/obo/MONDO_0016019	NANDO:2200900	ラスムッセン脳炎	Rasmussen's encephalitis
C0013264	MedGen UID:3925	Duchenne muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/3925	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010679	http://purl.obolibrary.org/obo/MONDO_0010679	NANDO:2200856	デュシェンヌ型筋ジストロフィー	Duchenne muscular dystrophy
C0016667	MedGen UID:8912	Fragile X syndrome	http://www.ncbi.nlm.nih.gov/medgen/8912	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010383	http://purl.obolibrary.org/obo/MONDO_0010383	NANDO:2200840	脆弱Ｘ症候群	Fragile X syndrome
C0020074	MedGen UID:6915	Hereditary insensitivity to pain with anhidrosis	http://www.ncbi.nlm.nih.gov/medgen/6915	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009746	http://purl.obolibrary.org/obo/MONDO_0009746	NANDO:2200854	先天性無痛無汗症	Congenital insensitivity to pain with anhidrosis
C0238111	MedGen UID:116044	Lennox-Gastaut syndrome	http://www.ncbi.nlm.nih.gov/medgen/116044	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016532	http://purl.obolibrary.org/obo/MONDO_0016532	NANDO:2200879	レノックス・ガストー症候群	Lennox-Gastaut syndrome
C0751785	MedGen UID:155923	Unverricht-Lundborg syndrome	http://www.ncbi.nlm.nih.gov/medgen/155923	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009698	http://purl.obolibrary.org/obo/MONDO_0009698	NANDO:2200880	ウンフェルリヒト・ルントボルク病	Unverricht-Lundborg disease
C0795996	MedGen UID:167090	Infantile bilateral striatal necrosis	http://www.ncbi.nlm.nih.gov/medgen/167090	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015518	http://purl.obolibrary.org/obo/MONDO_0015518	NANDO:2200888	乳児両側線条体壊死	Infantile bilateral striatal necrosis
C0917713	MedGen UID:182959	Becker muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/182959	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010311	http://purl.obolibrary.org/obo/MONDO_0010311	NANDO:2200865	ベッカー型筋ジストロフィー	Becker muscular dystrophy
C4049262	MedGen UID:1381987	Febrile infection-related epilepsy syndrome	http://www.ncbi.nlm.nih.gov/medgen/1381987	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015584	http://purl.obolibrary.org/obo/MONDO_0015584	NANDO:2200903	難治頻回部分発作重積型急性脳炎	Acute encephalitis with refractory, repetitive partial seizures
CN221588	MedGen UID:808180	Dopa-responsive dystonia	http://www.ncbi.nlm.nih.gov/medgen/808180	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016812	http://purl.obolibrary.org/obo/MONDO_0016812	NANDO:2200885	瀬川病	Segawa syndrome
CN228925	MedGen UID:833284	Isolated craniosynostosis	http://www.ncbi.nlm.nih.gov/medgen/833284	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015337	http://purl.obolibrary.org/obo/MONDO_0015337	NANDO:2200843	非症候性頭蓋骨縫合早期癒合症	Non-syndromic craniosynostosis
C1846058	MedGen UID:337496	Syndromic X-linked intellectual disability Lubs type	http://www.ncbi.nlm.nih.gov/medgen/337496	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010283	http://purl.obolibrary.org/obo/MONDO_0010283	NANDO:2200984	MECP2重複症候群	MECP2 duplication syndrome
C0175694	MedGen UID:61231	Smith-Lemli-Opitz syndrome	http://www.ncbi.nlm.nih.gov/medgen/61231	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010035	http://purl.obolibrary.org/obo/MONDO_0010035	NANDO:2200979	スミス・レムリ・オピッツ症候群	Smith-Lemli-Opitz syndrome
C2609129	MedGen UID:750633	Autoimmune pancreatitis	http://www.ncbi.nlm.nih.gov/medgen/750633	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015175	http://purl.obolibrary.org/obo/MONDO_0015175	NANDO:2200943	自己免疫性膵炎	Autoimmune pancreatitis
C0268186	MedGen UID:78647	Congenital glucose-galactose malabsorption	http://www.ncbi.nlm.nih.gov/medgen/78647	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011731	http://purl.obolibrary.org/obo/MONDO_0011731	NANDO:2200909	先天性グルコース・ガラクトース吸収不良症	Glucose-galactose malabsorption
C0268312	MedGen UID:75668	Progressive familial intrahepatic cholestasis	http://www.ncbi.nlm.nih.gov/medgen/75668	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015762	http://purl.obolibrary.org/obo/MONDO_0015762	NANDO:2200933	進行性家族性肝内胆汁うっ滞症	Progressive familial intrahepatic cholestasis
C0270972	MedGen UID:78752	De Lange syndrome	http://www.ncbi.nlm.nih.gov/medgen/78752	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016033	http://purl.obolibrary.org/obo/MONDO_0016033	NANDO:2200958	コルネリア・デランゲ症候群	Cornelia de Lange syndrome
C0345893	MedGen UID:87518	Juvenile polyposis syndrome	http://www.ncbi.nlm.nih.gov/medgen/87518	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017380	http://purl.obolibrary.org/obo/MONDO_0017380	NANDO:2200916	若年性ポリポーシス	Juvenile polyposis
C1275081	MedGen UID:266149	Cardio-facio-cutaneous syndrome	http://www.ncbi.nlm.nih.gov/medgen/266149	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015280	http://purl.obolibrary.org/obo/MONDO_0015280	NANDO:2200967	CFC症候群	CFC Syndrome
C1863557	MedGen UID:350209	Blepharophimosis - intellectual disability syndrome, SBBYS type	http://www.ncbi.nlm.nih.gov/medgen/350209	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011365	http://purl.obolibrary.org/obo/MONDO_0011365	NANDO:2200982	ヤング・シンプソン症候群	Young-Simpson syndrome
C3280527	MedGen UID:482157	Pancreatic triacylglycerol lipase deficiency	http://www.ncbi.nlm.nih.gov/medgen/482157	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013700	http://purl.obolibrary.org/obo/MONDO_0013700	NANDO:2200912	リパーゼ欠損症	Lipase deficiency
C4225222	MedGen UID:906646	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	http://www.ncbi.nlm.nih.gov/medgen/906646	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014757	http://purl.obolibrary.org/obo/MONDO_0014757	NANDO:2200985	武内・小崎症候群	Takenouchi-Kosaki syndrome
C4275068	MedGen UID:898614	Chronic diarrhea due to glucoamylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/898614	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015169	http://purl.obolibrary.org/obo/MONDO_0015169	NANDO:2200911	アミラーゼ欠損症	Amylase deficiency
C4721555	MedGen UID:1666753	Autoimmune hepatitis	http://www.ncbi.nlm.nih.gov/medgen/1666753	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016264	http://purl.obolibrary.org/obo/MONDO_0016264	NANDO:2200928	自己免疫性肝炎	Autoimmune hepatitis
C0152164	MedGen UID:57509	Cyclical vomiting syndrome	http://www.ncbi.nlm.nih.gov/medgen/57509	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010778	http://purl.obolibrary.org/obo/MONDO_0010778	NANDO:2200919	周期性嘔吐症候群	Cyclic vomiting syndrome
C0342288	MedGen UID:83339	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	http://www.ncbi.nlm.nih.gov/medgen/83339	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010580	http://purl.obolibrary.org/obo/MONDO_0010580	NANDO:2200924	IPEX症候群	IPEX syndrome
C0345217	MedGen UID:83377	Cloacal exstrophy	http://www.ncbi.nlm.nih.gov/medgen/83377	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009774	http://purl.obolibrary.org/obo/MONDO_0009774	NANDO:2200951	総排泄腔外反症	Cloacal exstrophy
C0036992	MedGen UID:19966	Short bowel syndrome	http://www.ncbi.nlm.nih.gov/medgen/19966	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015183	http://purl.obolibrary.org/obo/MONDO_0015183	NANDO:2200944	短腸症	Short bowel syndrome
C4317043	MedGen UID:1387611	Simpson-Golabi-Behmel syndrome	http://www.ncbi.nlm.nih.gov/medgen/1387611	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010731	http://purl.obolibrary.org/obo/MONDO_0010731	NANDO:2200978	シンプソン・ゴラビ・ベーメル症候群	Simpson-Golabi-Behmel syndrome
C4511307	MedGen UID:1393111	Keratinopathic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1393111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017266	http://purl.obolibrary.org/obo/MONDO_0017266	NANDO:2200987	ケラチン症性魚鱗癬	Keratinopathic ichthyosis
C0018553	MedGen UID:5420	Cowden syndrome	http://www.ncbi.nlm.nih.gov/medgen/5420	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016063	http://purl.obolibrary.org/obo/MONDO_0016063	NANDO:2200918	カウデン症候群	Cowden syndrome
C0021171	MedGen UID:7049	Incontinentia pigmenti syndrome	http://www.ncbi.nlm.nih.gov/medgen/7049	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010631	http://purl.obolibrary.org/obo/MONDO_0010631	NANDO:2200974	色素失調症	Incontinentia pigmenti
C0265210	MedGen UID:120511	Weaver syndrome	http://www.ncbi.nlm.nih.gov/medgen/120511	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010193	http://purl.obolibrary.org/obo/MONDO_0010193	NANDO:2200957	ウィーバー症候群	Weaver syndrome
C0265252	MedGen UID:75556	Coffin-Lowry syndrome	http://www.ncbi.nlm.nih.gov/medgen/75556	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010561	http://purl.obolibrary.org/obo/MONDO_0010561	NANDO:2200952	コフィン・ローリー症候群	Coffin-Lowry syndrome
C0265338	MedGen UID:75565	Coffin-Siris syndrome	http://www.ncbi.nlm.nih.gov/medgen/75565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015452	http://purl.obolibrary.org/obo/MONDO_0015452	NANDO:2200977	コフィン・シリス症候群	Coffin-Siris syndrome
C0566602	MedGen UID:107565	Primary sclerosing cholangitis	http://www.ncbi.nlm.nih.gov/medgen/107565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013433	http://purl.obolibrary.org/obo/MONDO_0013433	NANDO:2200929	原発性硬化性胆管炎	Primary sclerosing cholangitis
C0796004	MedGen UID:162897	Kabuki syndrome	http://www.ncbi.nlm.nih.gov/medgen/162897	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016512	http://purl.obolibrary.org/obo/MONDO_0016512	NANDO:2200956	歌舞伎症候群	Kabuki syndrome
C0009714	MedGen UID:40449	Congenital hepatic fibrosis	http://www.ncbi.nlm.nih.gov/medgen/40449	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018840	http://purl.obolibrary.org/obo/MONDO_0018840	NANDO:2200936	先天性肝線維症	Congenital hepatic fibrosis
C0175695	MedGen UID:61232	Sotos syndrome	http://www.ncbi.nlm.nih.gov/medgen/61232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019349	http://purl.obolibrary.org/obo/MONDO_0019349	NANDO:2200953	ソトス症候群	Sotos syndrome
C0206157	MedGen UID:61528	Nemaline myopathy	http://www.ncbi.nlm.nih.gov/medgen/61528	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018958	http://purl.obolibrary.org/obo/MONDO_0018958	NANDO:2200869	ネマリンミオパチー	Nemaline myopathy
C0023520	MedGen UID:6070	Leukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6070	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019046	http://purl.obolibrary.org/obo/MONDO_0019046	NANDO:2200836	先天性大脳白質形成不全症	Congenital hypomyelinating leukodystrophy
C0024215	MedGen UID:9828	Intestinal lymphangiectasia	http://www.ncbi.nlm.nih.gov/medgen/9828	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018178	http://purl.obolibrary.org/obo/MONDO_0018178	NANDO:2200914	腸リンパ管拡張症	Intestinal lymphangiectasia
C0270962	MedGen UID:75731	Multiminicore myopathy	http://www.ncbi.nlm.nih.gov/medgen/75731	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018948	http://purl.obolibrary.org/obo/MONDO_0018948	NANDO:2200871	マルチコア病	Multicore disease
C0349499	MedGen UID:578789	Fetal cytomegalovirus syndrome	http://www.ncbi.nlm.nih.gov/medgen/578789	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017409	http://purl.obolibrary.org/obo/MONDO_0017409	NANDO:2200891	先天性サイトメガロウイルス感染症	Congenital cytomegalovirus infection
C0393591	MedGen UID:97953	Aicardi Goutieres syndrome	http://www.ncbi.nlm.nih.gov/medgen/97953	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018866	http://purl.obolibrary.org/obo/MONDO_0018866	NANDO:2200893	エカルディ・グティエール症候群	Aicardi-Goutières Syndrome
C1275078	MedGen UID:226897	Carpenter syndrome	http://www.ncbi.nlm.nih.gov/medgen/226897	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019012	http://purl.obolibrary.org/obo/MONDO_0019012	NANDO:2200847	Carpenter症候群	Carpenter syndrome
C4707658	MedGen UID:1645136	Acute encephalopathy with biphasic seizures and late reduced diffusion	http://www.ncbi.nlm.nih.gov/medgen/1645136	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018198	http://purl.obolibrary.org/obo/MONDO_0018198	NANDO:2200901	痙攣重積型急性脳症	Acute encephalopathy with biphasic seizures and late reduced diffusion
C0152095	MedGen UID:56261	Complete trisomy 13 syndrome	http://www.ncbi.nlm.nih.gov/medgen/56261	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018068	http://purl.obolibrary.org/obo/MONDO_0018068	NANDO:2200964	13トリソミー症候群	Trisomy 13
C5568838	MedGen UID:1800261	Chronic enteropathy associated with SLCO2A1 gene	http://www.ncbi.nlm.nih.gov/medgen/1800261	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018766	http://purl.obolibrary.org/obo/MONDO_0018766	NANDO:2200925	非特異性多発性小腸潰瘍症	Chronic nonspecific multiple ulcers of the small intestine
C0035934	MedGen UID:48517	Rubinstein-Taybi syndrome	http://www.ncbi.nlm.nih.gov/medgen/48517	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019188	http://purl.obolibrary.org/obo/MONDO_0019188	NANDO:2200955	ルビンシュタイン・テイビ症候群	Rubinstein-Taybi syndrome
C0037769	MedGen UID:11519	West syndrome	http://www.ncbi.nlm.nih.gov/medgen/11519	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018097	http://purl.obolibrary.org/obo/MONDO_0018097	NANDO:2200878	点頭てんかん	West syndrome
C0078918	MedGen UID:36250	Oculocutaneous albinism	http://www.ncbi.nlm.nih.gov/medgen/36250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018910	http://purl.obolibrary.org/obo/MONDO_0018910	NANDO:2200986	眼皮膚白皮症	Oculocutaneous albinism
C2697932	MedGen UID:395827	Loeys-Dietz syndrome	http://www.ncbi.nlm.nih.gov/medgen/395827	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018954	http://purl.obolibrary.org/obo/MONDO_0018954	NANDO:2200969	ロイス・ディーツ症候群	Loeys-Dietz syndrome
C4317091	MedGen UID:1384417	Trisomy 18	http://www.ncbi.nlm.nih.gov/medgen/1384417	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018071	http://purl.obolibrary.org/obo/MONDO_0018071	NANDO:2200963	18トリソミー症候群	Trisomy 18
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2200945	ヒルシュスプルング病	Hirschsprung disease
C0238062	MedGen UID:536759	Chronic intestinal pseudoobstruction	http://www.ncbi.nlm.nih.gov/medgen/536759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017574	http://purl.obolibrary.org/obo/MONDO_0017574	NANDO:2200946	慢性特発性偽性腸閉塞症	Chronic idiopathic intestinal pseudo-obstruction
C5700203	MedGen UID:1814547	Caroli syndrome	http://www.ncbi.nlm.nih.gov/medgen/1814547	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018808	http://purl.obolibrary.org/obo/MONDO_0018808	NANDO:2200934	先天性多発肝内胆管拡張症	Caroli disease
C1848552	MedGen UID:341253	Methylmalonic aciduria and homocystinuria type cblD	http://www.ncbi.nlm.nih.gov/medgen/341253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010185	http://purl.obolibrary.org/obo/MONDO_0010185	NANDO:2201108	コバラミン代謝異常 cblD	Methylmalonic acidemia CblD type
C1848561	MedGen UID:341256	Cobalamin C disease	http://www.ncbi.nlm.nih.gov/medgen/341256	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010184	http://purl.obolibrary.org/obo/MONDO_0010184	NANDO:2201107	コバラミン代謝異常 cblC	Methylmalonic aciduria and homocystinuria, cblC type
C1848578	MedGen UID:336373	Methylmalonic aciduria and homocystinuria type cblF	http://www.ncbi.nlm.nih.gov/medgen/336373	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010183	http://purl.obolibrary.org/obo/MONDO_0010183	NANDO:2201110	コバラミン代謝異常 cblF	Methylmalonic acidemia and homocystinuria cblF type
C1849722	MedGen UID:342338	Adult polyglucosan body disease	http://www.ncbi.nlm.nih.gov/medgen/342338	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009897	http://purl.obolibrary.org/obo/MONDO_0009897	NANDO:2201163	成人型糖原病IV型	Glycogen storage disease type IV, adult form
C0162530	MedGen UID:102408	Cutaneous porphyria	http://www.ncbi.nlm.nih.gov/medgen/102408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009902	http://purl.obolibrary.org/obo/MONDO_0009902	NANDO:2201268	先天性骨髄性ポルフィリン症	Congenital erythropoietic porphyria
C0268238	MedGen UID:82780	Triglyceride storage disease with ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/82780	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010155	http://purl.obolibrary.org/obo/MONDO_0010155	NANDO:2200997	ドルフマン・シャナリン症候群	Dorfman-Chanarin syndrome
C0268242	MedGen UID:78650	Niemann-Pick disease, type A	http://www.ncbi.nlm.nih.gov/medgen/78650	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009756	http://purl.obolibrary.org/obo/MONDO_0009756	NANDO:2201206	ニーマン・ピック病A型	Niemann-Pick disease type A
C0268275	MedGen UID:78657	Tay-Sachs disease, variant AB	http://www.ncbi.nlm.nih.gov/medgen/78657	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010099	http://purl.obolibrary.org/obo/MONDO_0010099	NANDO:2201201	AB型GM2ガングリオシドーシス	GM2 gangliosidosis AB variant
C0543514	MedGen UID:107772	Glycogen storage disease IXb	http://www.ncbi.nlm.nih.gov/medgen/107772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009868	http://purl.obolibrary.org/obo/MONDO_0009868	NANDO:2201165	糖原病IXb型	Glycogen storage disease type IXb
C1096902	MedGen UID:203367	Sialic acid storage disease, severe infantile type	http://www.ncbi.nlm.nih.gov/medgen/203367	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010027	http://purl.obolibrary.org/obo/MONDO_0010027	NANDO:2201237	乳児型遊離シアル酸蓄積症	Infantile free sialic acid storage disease
C4282398	MedGen UID:924303	Sialidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/924303	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	NANDO:2201192	シアリドーシスII型	Sialidosis type 2
C5574950	MedGen UID:1802991	Netherton syndrome	http://www.ncbi.nlm.nih.gov/medgen/1802991	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009735	http://purl.obolibrary.org/obo/MONDO_0009735	NANDO:2200993	ネザートン症候群	Netherton syndrome
C0036161	MedGen UID:11313	Sandhoff disease	http://www.ncbi.nlm.nih.gov/medgen/11313	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010006	http://purl.obolibrary.org/obo/MONDO_0010006	NANDO:2201200	サンドホフ病	Sandhoff disease
C0037231	MedGen UID:11443	Sjögren-Larsson syndrome	http://www.ncbi.nlm.nih.gov/medgen/11443	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010031	http://purl.obolibrary.org/obo/MONDO_0010031	NANDO:2200994	シェーグレン・ラルソン症候群	Sjögren-Larsson syndrome
C0039373	MedGen UID:11713	Tay-Sachs disease	http://www.ncbi.nlm.nih.gov/medgen/11713	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010100	http://purl.obolibrary.org/obo/MONDO_0010100	NANDO:2201199	テイ・サックス病	Tay-Sachs disease
C0238402	MedGen UID:116061	Pyknodysostosis	http://www.ncbi.nlm.nih.gov/medgen/116061	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009940	http://purl.obolibrary.org/obo/MONDO_0009940	NANDO:2201023	濃化異骨症	Pycnodysostosis
C1621920	MedGen UID:301223	Intermediate maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/301223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017052	http://purl.obolibrary.org/obo/MONDO_0017052	NANDO:2201079	中間型メープルシロップ尿症	Intermediate maple syrup urine disease
C1833382	MedGen UID:318863	Maturity-onset diabetes of the young type 4	http://www.ncbi.nlm.nih.gov/medgen/318863	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011667	http://purl.obolibrary.org/obo/MONDO_0011667	NANDO:2201072	MODY4	Maturity-onset diabetes of the young type 4
C1833518	MedGen UID:318896	Carnitine palmitoyl transferase II deficiency, neonatal form	http://www.ncbi.nlm.nih.gov/medgen/318896	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012136	http://purl.obolibrary.org/obo/MONDO_0012136	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
C0003872	MedGen UID:2077	Psoriatic arthritis	http://www.ncbi.nlm.nih.gov/medgen/2077	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011849	http://purl.obolibrary.org/obo/MONDO_0011849	NANDO:2201059	若年性特発性関節炎（乾癬性関節炎）	Psoriatic juvenile idiopathic arthritis
C0409818	MedGen UID:98370	Chronic infantile neurological, cutaneous and articular syndrome	http://www.ncbi.nlm.nih.gov/medgen/98370	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011776	http://purl.obolibrary.org/obo/MONDO_0011776	NANDO:2201066	慢性乳児神経皮膚関節症候群	Chronic infantile neurological cutaneous articular syndrome
C5848103	MedGen UID:1853123	Hypohidrotic ectodermal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/1853123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016535	http://purl.obolibrary.org/obo/MONDO_0016535	NANDO:2201005	無汗性外胚葉形成不全	Anhidrotic ectodermal dysplasia
C0029411	MedGen UID:18210	Pachydermoperiostosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/18210	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016620	http://purl.obolibrary.org/obo/MONDO_0016620	NANDO:2201004	肥厚性皮膚骨膜症	Pachydermoperiostosis
C0029454	MedGen UID:18223	Osteopetrosis	http://www.ncbi.nlm.nih.gov/medgen/18223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017198	http://purl.obolibrary.org/obo/MONDO_0017198	NANDO:2201013	大理石骨病	Osteopetrosis
C0268568	MedGen UID:78689	Classical maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/78689	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017051	http://purl.obolibrary.org/obo/MONDO_0017051	NANDO:2201078	古典型メープルシロップ尿症	Classic form maple syrup urine disease
C0268569	MedGen UID:78690	Intermittent maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/78690	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017053	http://purl.obolibrary.org/obo/MONDO_0017053	NANDO:2201080	間欠型メープルシロップ尿症	Intermittent maple syrup urine disease
C1274215	MedGen UID:697564	Autosomal recessive congenital ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/697564	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017265	http://purl.obolibrary.org/obo/MONDO_0017265	NANDO:2200991	常染色体劣性遺伝性魚鱗癬	Autosomal recessive congenital ichthyosis
C1856302	MedGen UID:344701	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	http://www.ncbi.nlm.nih.gov/medgen/344701	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017696	http://purl.obolibrary.org/obo/MONDO_0017696	NANDO:2201160	非進行性肝型糖原病IV型	Glycogen storage disease type IV, non-progressive hepatic form
C1856303	MedGen UID:383883	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	http://www.ncbi.nlm.nih.gov/medgen/383883	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017697	http://purl.obolibrary.org/obo/MONDO_0017697	NANDO:2201161	致死性神経・筋型糖原病IV型	Glycogen storage disease type IV, fatal neuromuscular form
C3665333	MedGen UID:777082	Keratitis ichthyosis and deafness syndrome	http://www.ncbi.nlm.nih.gov/medgen/777082	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018781	http://purl.obolibrary.org/obo/MONDO_0018781	NANDO:2200996	KID症候群	Keratitis-ichthyosis-deafness syndrome
C3694531	MedGen UID:854172	Glycogen storage disease IXa1	http://www.ncbi.nlm.nih.gov/medgen/854172	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010598	http://purl.obolibrary.org/obo/MONDO_0010598	NANDO:2201164	糖原病IXa型	Glycogen storage disease type IXa
C0340543	MedGen UID:90953	Heritable pulmonary arterial hypertension	http://www.ncbi.nlm.nih.gov/medgen/90953	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017148	http://purl.obolibrary.org/obo/MONDO_0017148	NANDO:2201047	家族性肺動脈性肺高血圧症	Familial pulmonary arterial hypertension
C0343068	MedGen UID:137986	Familial cold autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/137986	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018768	http://purl.obolibrary.org/obo/MONDO_0018768	NANDO:2201068	家族性寒冷自己炎症症候群	familial cold autoinflammatory syndrome
C1838100	MedGen UID:324942	Maturity-onset diabetes of the young type 3	http://www.ncbi.nlm.nih.gov/medgen/324942	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010894	http://purl.obolibrary.org/obo/MONDO_0010894	NANDO:2201071	MODY3	Maturity-onset diabetes of the young type 3
C3839921	MedGen UID:825766	Diffuse lymphatic malformation	http://www.ncbi.nlm.nih.gov/medgen/825766	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015408	http://purl.obolibrary.org/obo/MONDO_0015408	NANDO:2201033	リンパ管腫症	Lymphangiomatosis
C0038325	MedGen UID:20955	Stevens-Johnson syndrome	http://www.ncbi.nlm.nih.gov/medgen/20955	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018229	http://purl.obolibrary.org/obo/MONDO_0018229	NANDO:2201006	スティーヴンス・ジョンソン症候群	Stevens-Johnson syndrome
C1969054	MedGen UID:409741	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/409741	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012693	http://purl.obolibrary.org/obo/MONDO_0012693	NANDO:2201152	糖原病0b型	Glycogen storage disease type 0b
C2751643	MedGen UID:442778	Glycogen storage disease IXc	http://www.ncbi.nlm.nih.gov/medgen/442778	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013091	http://purl.obolibrary.org/obo/MONDO_0013091	NANDO:2201166	糖原病IXc型	Glycogen storage disease type IXc
C0020630	MedGen UID:43799	Hypophosphatasia	http://www.ncbi.nlm.nih.gov/medgen/43799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018570	http://purl.obolibrary.org/obo/MONDO_0018570	NANDO:2201012	低ホスファターゼ症	Hypophosphatasia
C0238462	MedGen UID:66772	Medullary thyroid carcinoma	http://www.ncbi.nlm.nih.gov/medgen/66772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015277	http://purl.obolibrary.org/obo/MONDO_0015277	NANDO:2201054	家族性甲状腺髄様癌	Medullary thyroid carcinoma
C0265267	MedGen UID:82697	Child syndrome	http://www.ncbi.nlm.nih.gov/medgen/82697	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010621	http://purl.obolibrary.org/obo/MONDO_0010621	NANDO:2200998	CHILD症候群	CHILD syndrome
C0751285	MedGen UID:199627	Thiamine-responsive maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/199627	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017054	http://purl.obolibrary.org/obo/MONDO_0017054	NANDO:2201081	チアミン反応型メープルシロップ尿症	Thiamine-responsive maple syrup urine disease
C5679618	MedGen UID:1843387	Acute neonatal citrullinemia type I	http://www.ncbi.nlm.nih.gov/medgen/1843387	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016600	http://purl.obolibrary.org/obo/MONDO_0016600	NANDO:2201094	新生児期発症型アルギニノコハク酸合成酵素欠損症	Neonatal-onset argininosuccinate synthetase deficiency
C5679972	MedGen UID:1826169	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	http://www.ncbi.nlm.nih.gov/medgen/1826169	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017695	http://purl.obolibrary.org/obo/MONDO_0017695	NANDO:2201159	肝型糖原病IV型	Glycogen storage disease type IV, hepatic form
C5680597	MedGen UID:1842414	Thoracic malformation	http://www.ncbi.nlm.nih.gov/medgen/1842414	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015929	http://purl.obolibrary.org/obo/MONDO_0015929	NANDO:2201008	胸郭不全症候群	Thoracic insufficiency syndrome
C5680977	MedGen UID:1842686	TRPV4-related bone disorder	http://www.ncbi.nlm.nih.gov/medgen/1842686	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018240	http://purl.obolibrary.org/obo/MONDO_0018240	NANDO:2201021	TRPV4異常症	Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders
CN201794	MedGen UID:831252	Adult-onset citrullinemia type I	http://www.ncbi.nlm.nih.gov/medgen/831252	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016601	http://purl.obolibrary.org/obo/MONDO_0016601	NANDO:2201095	遅発型アルギニノコハク酸合成酵素欠損症	Late-onset argininosuccinate synthetase deficiency
C0002312	MedGen UID:1434	alpha Thalassemia	http://www.ncbi.nlm.nih.gov/medgen/1434	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011399	http://purl.obolibrary.org/obo/MONDO_0011399	NANDO:2201273	α - サラセミア	α-thalassemia
C0162566	MedGen UID:56453	Porphyria cutanea tarda	http://www.ncbi.nlm.nih.gov/medgen/56453	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015104	http://purl.obolibrary.org/obo/MONDO_0015104	NANDO:2201267	晩発性皮膚ポルフィリン症	Porphyria cutanea tarda
C0205711	MedGen UID:61440	Pelizaeus-Merzbacher disease	http://www.ncbi.nlm.nih.gov/medgen/61440	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010714	http://purl.obolibrary.org/obo/MONDO_0010714	NANDO:2201288	ペリツェウス・メルツバッハ病	Pelizaeus-Merzbacher disease
C1970859	MedGen UID:370369	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	http://www.ncbi.nlm.nih.gov/medgen/370369	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010389	http://purl.obolibrary.org/obo/MONDO_0010389	NANDO:2201279	gp91phox欠損慢性肉芽腫症	gp91phox-deficient chronic granulomatous disease
C2026514	MedGen UID:1708324	X-linked cerebral adrenoleukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/1708324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010247	http://purl.obolibrary.org/obo/MONDO_0010247	NANDO:2201246	小児大脳型副腎白質ジストロフィー	Childhood cerebral adrenoleukodystrophy
C2676244	MedGen UID:436642	Hypomyelinating leukodystrophy 6	http://www.ncbi.nlm.nih.gov/medgen/436642	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012905	http://purl.obolibrary.org/obo/MONDO_0012905	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
C2677889	MedGen UID:394385	X-linked erythropoietic protoporphyria	http://www.ncbi.nlm.nih.gov/medgen/394385	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010420	http://purl.obolibrary.org/obo/MONDO_0010420	NANDO:2201269	X連鎖優性プロトポルフィリン症	X-linked dominant protoporphyria
C3151409	MedGen UID:462759	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	http://www.ncbi.nlm.nih.gov/medgen/462759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013507	http://purl.obolibrary.org/obo/MONDO_0013507	NANDO:2201283	p40phox欠損慢性肉芽腫症	p40phox-deficient chronic granulomatous disease
C0026708	MedGen UID:6453	Mucopolysaccharidosis, MPS-I-S	http://www.ncbi.nlm.nih.gov/medgen/6453	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011760	http://purl.obolibrary.org/obo/MONDO_0011760	NANDO:2201169	Scheie病	Scheie  disease
C0268243	MedGen UID:78651	Niemann-Pick disease, type B	http://www.ncbi.nlm.nih.gov/medgen/78651	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011871	http://purl.obolibrary.org/obo/MONDO_0011871	NANDO:2201207	ニーマン・ピック病B型	Niemann-Pick disease type B
C0268252	MedGen UID:120623	Adult Krabbe disease	http://www.ncbi.nlm.nih.gov/medgen/120623	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016091	http://purl.obolibrary.org/obo/MONDO_0016091	NANDO:2201219	成人型クラッベ病	Adult Krabbe disease
C0268338	MedGen UID:82790	Ehlers-Danlos syndrome, type 4	http://www.ncbi.nlm.nih.gov/medgen/82790	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017314	http://purl.obolibrary.org/obo/MONDO_0017314	NANDO:2201258	血管型エーラス・ダンロス症候群	Ehlers-Danlos syndrome, vascular type
C0348890	MedGen UID:87595	Idiopathic aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/87595	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012197	http://purl.obolibrary.org/obo/MONDO_0012197	NANDO:2201276	特発性再生不良性貧血	Idiopathic aplastic anemia
C0432443	MedGen UID:96605	Deletion of long arm of chromosome 18	http://www.ncbi.nlm.nih.gov/medgen/96605	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011147	http://purl.obolibrary.org/obo/MONDO_0011147	NANDO:2201291	18q欠失症候群	18q-syndrome
C4274084	MedGen UID:894734	Pelizaeus Merzbacher like disease	http://www.ncbi.nlm.nih.gov/medgen/894734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017226	http://purl.obolibrary.org/obo/MONDO_0017226	NANDO:2201289	ペリツェウス・メルツバッハ様病１	Pelizaeus-Merzbacher like disease
C0086431	MedGen UID:88566	Mucopolysaccharidosis, MPS-I-H/S	http://www.ncbi.nlm.nih.gov/medgen/88566	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011759	http://purl.obolibrary.org/obo/MONDO_0011759	NANDO:2201170	Hurler-Scheie病	Hurler-Scheie disease
C0342841	MedGen UID:575246	Mucopolysaccharidosis type 2, severe form	http://www.ncbi.nlm.nih.gov/medgen/575246	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016315	http://purl.obolibrary.org/obo/MONDO_0016315	NANDO:2201173	重症型ムコ多糖症II型	Mucopolysaccharidosis type II, severe form
C0342881	MedGen UID:575266	Homozygous familial hypercholesterolemia	http://www.ncbi.nlm.nih.gov/medgen/575266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018328	http://purl.obolibrary.org/obo/MONDO_0018328	NANDO:2201255	家族性高コレステロール血症ホモ接合体	Homozygous familial hypercholesterolemia
C1845151	MedGen UID:335112	Glycogen storage disease IXd	http://www.ncbi.nlm.nih.gov/medgen/335112	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010362	http://purl.obolibrary.org/obo/MONDO_0010362	NANDO:2201167	糖原病IXd型	Glycogen storage disease type IXd
C3888924	MedGen UID:923868	Glycogen storage disease due to acid maltase deficiency, infantile onset	http://www.ncbi.nlm.nih.gov/medgen/923868	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017694	http://purl.obolibrary.org/obo/MONDO_0017694	NANDO:2201229	乳児型ポンペ病	Classic infantile Pompe disease
C0271907	MedGen UID:543648	Acquired aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/543648	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015610	http://purl.obolibrary.org/obo/MONDO_0015610	NANDO:2201277	二次性再生不良性貧血	Secondary aplastic anemia
C1866294	MedGen UID:356497	Ehlers-Danlos syndrome, musculocontractural type	http://www.ncbi.nlm.nih.gov/medgen/356497	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011142	http://purl.obolibrary.org/obo/MONDO_0011142	NANDO:2201262	デルマタン4-O-硫酸基転移酵素-1欠損型エーラス・ダンロス症候群	Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome
C0022340	MedGen UID:9589	Late-infantile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/9589	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015674	http://purl.obolibrary.org/obo/MONDO_0015674	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
C0751273	MedGen UID:148270	Infantile Krabbe disease	http://www.ncbi.nlm.nih.gov/medgen/148270	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016089	http://purl.obolibrary.org/obo/MONDO_0016089	NANDO:2201216	乳児型クラッベ病	Infantile Krabbe disease
C0751278	MedGen UID:155529	Metachromatic leukodystrophy, late infantile form	http://www.ncbi.nlm.nih.gov/medgen/155529	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017729	http://purl.obolibrary.org/obo/MONDO_0017729	NANDO:2201202	後期乳児型異染性白質ジストロフィー	Metachromatic leukodystrophy, late infantile form
C0751279	MedGen UID:199625	Metachromatic leukodystrophy, adult type	http://www.ncbi.nlm.nih.gov/medgen/199625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017730	http://purl.obolibrary.org/obo/MONDO_0017730	NANDO:2201204	成人型異染性白質ジストロフィー	Metachromatic leukodystrophy, adult form
C0795889	MedGen UID:208645	Allan-Herndon-Dudley syndrome	http://www.ncbi.nlm.nih.gov/medgen/208645	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010354	http://purl.obolibrary.org/obo/MONDO_0010354	NANDO:2201292	アラン・ハーンドン・ダドリー症候群	Allan-Herndon-Dudley syndrome
C1527231	MedGen UID:315918	Adrenomyeloneuropathy	http://www.ncbi.nlm.nih.gov/medgen/315918	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015339	http://purl.obolibrary.org/obo/MONDO_0015339	NANDO:2201248	副腎脊髄ニューロパチー	Adrenomyeloneuropathy
C5679815	MedGen UID:1826165	Mucopolysaccharidosis type 2, attenuated form	http://www.ncbi.nlm.nih.gov/medgen/1826165	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016316	http://purl.obolibrary.org/obo/MONDO_0016316	NANDO:2201171	軽症型ムコ多糖症II型	Mucopolysaccharidosis type II, attenuated form
C5679974	MedGen UID:1843432	Alpha-mannosidosis, adult form	http://www.ncbi.nlm.nih.gov/medgen/1843432	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017733	http://purl.obolibrary.org/obo/MONDO_0017733	NANDO:2201189	若年成人型α - マンノシドーシス	Alpha-mannosidosis, adult form
C5680869	MedGen UID:1826101	Niemann-Pick disease type C, adult neurologic onset	http://www.ncbi.nlm.nih.gov/medgen/1826101	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016310	http://purl.obolibrary.org/obo/MONDO_0016310	NANDO:2201209	成人型ニーマン・ピック病C型	Adult-onset Niemann-Pick disease type C
C5681076	MedGen UID:1843217	Intermediate severe Salla disease	http://www.ncbi.nlm.nih.gov/medgen/1843217	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017737	http://purl.obolibrary.org/obo/MONDO_0017737	NANDO:2201238	中間型遊離シアル酸蓄積症	Intermediate severe Salla disease
C0005283	MedGen UID:2611	beta Thalassemia	http://www.ncbi.nlm.nih.gov/medgen/2611	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019402	http://purl.obolibrary.org/obo/MONDO_0019402	NANDO:2201274	β - サラセミア	β-thalassemia
C0008384	MedGen UID:40266	Cholesteryl ester storage disease	http://www.ncbi.nlm.nih.gov/medgen/40266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019149	http://purl.obolibrary.org/obo/MONDO_0019149	NANDO:2201233	コレステロールエステル蓄積症	Cholesterol ester storage disease
C0022797	MedGen UID:7230	Adult neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/7230	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019260	http://purl.obolibrary.org/obo/MONDO_0019260	NANDO:2201244	成人型神経セロイドリポフスチン症	Adult neuronal ceroid lipofuscinosis
C0023806	MedGen UID:44174	Sialidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/44174	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019346	http://purl.obolibrary.org/obo/MONDO_0019346	NANDO:2201191	シアリドーシスI型	Sialidosis type 1
C0027831	MedGen UID:18013	Neurofibromatosis, type 1	http://www.ncbi.nlm.nih.gov/medgen/18013	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018975	http://purl.obolibrary.org/obo/MONDO_0018975	NANDO:2201003	レックリングハウゼン病	von Recklinghausen's disease
C0029434	MedGen UID:45246	Osteogenesis imperfecta	http://www.ncbi.nlm.nih.gov/medgen/45246	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019019	http://purl.obolibrary.org/obo/MONDO_0019019	NANDO:2201011	骨形成不全症	Osteogenesis imperfecta
C0268281	MedGen UID:75666	Infantile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/75666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019261	http://purl.obolibrary.org/obo/MONDO_0019261	NANDO:2201241	乳児型神経セロイドリポフスチン症	Infantile neuronal ceroid lipofuscinosis
C5576443	MedGen UID:1804666	Primary lymphedema	http://www.ncbi.nlm.nih.gov/medgen/1804666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019175	http://purl.obolibrary.org/obo/MONDO_0019175	NANDO:2201031	原発性リンパ浮腫	Primary lymphedema
C0039445	MedGen UID:52657	Hereditary hemorrhagic telangiectasia	http://www.ncbi.nlm.nih.gov/medgen/52657	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019180	http://purl.obolibrary.org/obo/MONDO_0019180	NANDO:2201034	遺伝性出血性末梢血管拡張症	Hereditary hemorrhagic telangiectasia
C0043208	MedGen UID:53088	Wolman disease	http://www.ncbi.nlm.nih.gov/medgen/53088	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	NANDO:2201232	ウォルマン病	Wolman disease
C2931171	MedGen UID:443993	Oligoarticular juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/443993	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019433	http://purl.obolibrary.org/obo/MONDO_0019433	NANDO:2201056	若年性特発性関節炎（少関節炎）	Oligoarticular juvenile idiopathic arthritis
CN293564	MedGen UID:978346	Juvenile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/978346	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019262	http://purl.obolibrary.org/obo/MONDO_0019262	NANDO:2201243	若年型神経セロイドリポフスチン症	Juvenile neuronal ceroid lipofuscinosis
C1848137	MedGen UID:338393	Developmental and epileptic encephalopathy, 9	http://www.ncbi.nlm.nih.gov/medgen/338393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010246	http://purl.obolibrary.org/obo/MONDO_0010246	NANDO:2201404	PCDH19関連症候群	PCDH19-related syndrome
C1849508	MedGen UID:340341	Pyridoxine-dependent epilepsy	http://www.ncbi.nlm.nih.gov/medgen/340341	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009945	http://purl.obolibrary.org/obo/MONDO_0009945	NANDO:2201409	ビタミンB6依存性てんかん	Vitamine B6-dependent epilepsy
C1854630	MedGen UID:340266	Wiedemann-Steiner syndrome	http://www.ncbi.nlm.nih.gov/medgen/340266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011518	http://purl.obolibrary.org/obo/MONDO_0011518	NANDO:2201417	ヴィーデマン・スタイナー症候群	Wiedemann-Steiner syndrome
C0175713	MedGen UID:61236	Aicardi syndrome	http://www.ncbi.nlm.nih.gov/medgen/61236	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010568	http://purl.obolibrary.org/obo/MONDO_0010568	NANDO:2201397	アイカルディ症候群	Aicardi syndrome
C1970431	MedGen UID:370910	Pitt-Hopkins syndrome	http://www.ncbi.nlm.nih.gov/medgen/370910	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012589	http://purl.obolibrary.org/obo/MONDO_0012589	NANDO:2201419	ピット・ホプキンス症候群	Pitt-Hopkins syndrome
C2675179	MedGen UID:436367	Arginine:glycine amidinotransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/436367	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012996	http://purl.obolibrary.org/obo/MONDO_0012996	NANDO:2201299	AGAT欠損症	AGAT deficiency
C2676243	MedGen UID:390993	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	http://www.ncbi.nlm.nih.gov/medgen/390993	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011897	http://purl.obolibrary.org/obo/MONDO_0011897	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
C2677109	MedGen UID:383026	Hypomyelinating leukodystrophy 4	http://www.ncbi.nlm.nih.gov/medgen/383026	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012824	http://purl.obolibrary.org/obo/MONDO_0012824	NANDO:2201293	Hsp60シャペロン病	Mitochondrial Hsp60 chaperonopathy
C2677903	MedGen UID:437070	Syndromic X-linked intellectual disability Najm type	http://www.ncbi.nlm.nih.gov/medgen/437070	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010417	http://purl.obolibrary.org/obo/MONDO_0010417	NANDO:2201393	ＣＡＳＫ異常症	CASK abnormality
C5393299	MedGen UID:1715418	Intellectual disability, X-linked 102	http://www.ncbi.nlm.nih.gov/medgen/1715418	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010497	http://purl.obolibrary.org/obo/MONDO_0010497	NANDO:2201395	DDX3X関連神経発達異常症	DDX3X-related neurodevelopmental disorder
C0027873	MedGen UID:45063	Neuromyelitis optica	http://www.ncbi.nlm.nih.gov/medgen/45063	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019100	http://purl.obolibrary.org/obo/MONDO_0019100	NANDO:2201322	視神経脊髄炎	Neuromyelitis optica
C0432214	MedGen UID:609409	Namaqualand hip dysplasia	http://www.ncbi.nlm.nih.gov/medgen/609409	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011496	http://purl.obolibrary.org/obo/MONDO_0011496	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
C1096903	MedGen UID:203368	Salla disease	http://www.ncbi.nlm.nih.gov/medgen/203368	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011449	http://purl.obolibrary.org/obo/MONDO_0011449	NANDO:2201294	サラ病	Salla disease
C3494976	MedGen UID:782160	Malignant migrating partial seizures of infancy	http://www.ncbi.nlm.nih.gov/medgen/782160	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017385	http://purl.obolibrary.org/obo/MONDO_0017385	NANDO:2201408	遊走性焦点発作を伴う乳児てんかん	Epilepsy of infancy with migrating focal seizures
C3550973	MedGen UID:763887	Neurodegeneration with brain iron accumulation 5	http://www.ncbi.nlm.nih.gov/medgen/763887	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010476	http://purl.obolibrary.org/obo/MONDO_0010476	NANDO:2201414	WDR45関連神経変性症	WDR45 associated neurodegeneration
C3669395	MedGen UID:777171	X-linked chondrodysplasia punctata 1	http://www.ncbi.nlm.nih.gov/medgen/777171	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010555	http://purl.obolibrary.org/obo/MONDO_0010555	NANDO:2201360	末節骨短縮型点状軟骨異形成症	Brachytelephalangic chondrodysplasia punctata
C4750837	MedGen UID:1656239	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/1656239	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014205	http://purl.obolibrary.org/obo/MONDO_0014205	NANDO:2201416	バインブリッジ・ロパース症候群	Bainbridge–Ropers syndrome
C0079298	MedGen UID:86896	Epidermolysis bullosa simplex	http://www.ncbi.nlm.nih.gov/medgen/86896	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017610	http://purl.obolibrary.org/obo/MONDO_0017610	NANDO:2201341	単純型表皮水疱症	Epidermolysis bullosa simplex
C0079301	MedGen UID:86898	Junctional epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/86898	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017612	http://purl.obolibrary.org/obo/MONDO_0017612	NANDO:2201342	接合部型表皮水疱症	Junctional epidermolysis bullosa
C1836683	MedGen UID:324580	Spondyloepiphyseal dysplasia with metatarsal shortening	http://www.ncbi.nlm.nih.gov/medgen/324580	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012206	http://purl.obolibrary.org/obo/MONDO_0012206	NANDO:2201353	中足骨短縮を伴う脊椎骨端異形成症	Spondyloepiphyseal dysplasia with metatarsal shortening
C1836727	MedGen UID:373160	PCWH syndrome	http://www.ncbi.nlm.nih.gov/medgen/373160	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012198	http://purl.obolibrary.org/obo/MONDO_0012198	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
C1845862	MedGen UID:337451	Creatine transporter deficiency	http://www.ncbi.nlm.nih.gov/medgen/337451	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010305	http://purl.obolibrary.org/obo/MONDO_0010305	NANDO:2201301	SLC6A8欠損症	SLC6A8 deficiency
C0282577	MedGen UID:76469	Congenital disorder of glycosylation	http://www.ncbi.nlm.nih.gov/medgen/76469	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015286	http://purl.obolibrary.org/obo/MONDO_0015286	NANDO:2201396	先天性グリコシル化異常症	Congenital disorders of glycosylation
C1864663	MedGen UID:501134	Hypomyelination and Congenital Cataract	http://www.ncbi.nlm.nih.gov/medgen/501134	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012514	http://purl.obolibrary.org/obo/MONDO_0012514	NANDO:2201296	先天性白内障を伴う髄鞘形成不全症	Hypomyelination and congenital cataract
C1864723	MedGen UID:350498	Pyridoxal phosphate-responsive seizures	http://www.ncbi.nlm.nih.gov/medgen/350498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012407	http://purl.obolibrary.org/obo/MONDO_0012407	NANDO:2201411	ピリドキサール依存症	Pyridoxal 5'-phosphate-dependent epilepsy
C2751310	MedGen UID:414347	Familial juvenile hyperuricemic nephropathy type 2	http://www.ncbi.nlm.nih.gov/medgen/414347	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013128	http://purl.obolibrary.org/obo/MONDO_0013128	NANDO:2201389	ADTKD-REN	ADTKD-REN
C4310741	MedGen UID:934708	Hyperuricemic nephropathy, familial juvenile type 4	http://www.ncbi.nlm.nih.gov/medgen/934708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014891	http://purl.obolibrary.org/obo/MONDO_0014891	NANDO:2201390	ADTKD-SEC61A1	ADTKD-SEC61A1
C0265292	MedGen UID:82702	Craniometaphyseal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/82702	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015465	http://purl.obolibrary.org/obo/MONDO_0015465	NANDO:2201366	頭蓋骨幹端異形成症	Craniometaphyseal dysplasia
C0265294	MedGen UID:82704	Pyle metaphyseal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/82704	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009943	http://purl.obolibrary.org/obo/MONDO_0009943	NANDO:2201367	骨幹端異形成症	Metaphyseal dysplasias
C0265301	MedGen UID:120530	Sclerosteosis	http://www.ncbi.nlm.nih.gov/medgen/120530	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017838	http://purl.obolibrary.org/obo/MONDO_0017838	NANDO:2201369	硬化性骨症	Sclerosteosis
C0265482	MedGen UID:489853	Ring chromosome 20 syndrome	http://www.ncbi.nlm.nih.gov/medgen/489853	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015436	http://purl.obolibrary.org/obo/MONDO_0015436	NANDO:2201399	環状20番染色体症候群	Ring chromosome 20 syndrome
C0574080	MedGen UID:154356	Deficiency of guanidinoacetate methyltransferase	http://www.ncbi.nlm.nih.gov/medgen/154356	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012999	http://purl.obolibrary.org/obo/MONDO_0012999	NANDO:2201300	GAMT欠損症	GAMT deficiency
C0796173	MedGen UID:163223	Spondyloperipheral dysplasia	http://www.ncbi.nlm.nih.gov/medgen/163223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010078	http://purl.obolibrary.org/obo/MONDO_0010078	NANDO:2201351	脊椎末梢異形成症	Spondyloperipheral dysplasia
C1300228	MedGen UID:224886	Astley-Kendall dysplasia	http://www.ncbi.nlm.nih.gov/medgen/224886	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019408	http://purl.obolibrary.org/obo/MONDO_0019408	NANDO:2201362	Astley-Kendall骨異形成症	Astley-Kendall dysplasia
CN236409	MedGen UID:880851	Interfrontal craniofaciosynostosis	http://www.ncbi.nlm.nih.gov/medgen/880851	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018065	http://purl.obolibrary.org/obo/MONDO_0018065	NANDO:2201305	非症候性頭蓋骨縫合早期癒合症（前頭縫合）	Non-syndromic metopic craniosynostosis
C1609433	MedGen UID:296299	Bilateral renal agenesis	http://www.ncbi.nlm.nih.gov/medgen/296299	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015986	http://purl.obolibrary.org/obo/MONDO_0015986	NANDO:2201462	両側腎無発生	Bilateral renal agenesis
C1846386	MedGen UID:375876	Isolated focal cortical dysplasia type IIa	http://www.ncbi.nlm.nih.gov/medgen/375876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017101	http://purl.obolibrary.org/obo/MONDO_0017101	NANDO:2201502	限局性皮質異形成タイプ2a	Focal cortical dysplasia type 2a
C1849453	MedGen UID:336602	Rapadilino syndrome	http://www.ncbi.nlm.nih.gov/medgen/336602	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009955	http://purl.obolibrary.org/obo/MONDO_0009955	NANDO:2201531	ラパデリノ症候群	RAPADILINO symdrome
C0220989	MedGen UID:66352	Acquired partial lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/66352	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012104	http://purl.obolibrary.org/obo/MONDO_0012104	NANDO:2201447	後天性部分性脂肪萎縮症	Acquired partial lipodystrophy
C2931826	MedGen UID:444151	Potassium-aggravated myotonia	http://www.ncbi.nlm.nih.gov/medgen/444151	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018959	http://purl.obolibrary.org/obo/MONDO_0018959	NANDO:2201513	ナトリウムチャネルミオトニー	Sodium channel myotonia
C0028860	MedGen UID:18145	Lowe syndrome	http://www.ncbi.nlm.nih.gov/medgen/18145	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010645	http://purl.obolibrary.org/obo/MONDO_0010645	NANDO:1201116	ロウ症候群	Lowe syndrome
C1262481	MedGen UID:220382	Eosinophilic gastroenteritis	http://www.ncbi.nlm.nih.gov/medgen/220382	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016129	http://purl.obolibrary.org/obo/MONDO_0016129	NANDO:2201440	好酸球性胃腸炎	Eosinophilic gastroenteritis
C1274103	MedGen UID:226893	Tumor-induced osteomalacia	http://www.ncbi.nlm.nih.gov/medgen/226893	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018124	http://purl.obolibrary.org/obo/MONDO_0018124	NANDO:2201480	腫瘍性骨軟化症	Tumor-induced hypophosphatemic osteomalacia
C3489789	MedGen UID:483742	Progressive familial intrahepatic cholestasis type 2	http://www.ncbi.nlm.nih.gov/medgen/483742	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011156	http://purl.obolibrary.org/obo/MONDO_0011156	NANDO:2201437	進行性家族性肝内胆汁うっ滞症2型	Progressive familial intrahepatic cholestasis type 2
C3550973	MedGen UID:763887	Neurodegeneration with brain iron accumulation 5	http://www.ncbi.nlm.nih.gov/medgen/763887	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010476	http://purl.obolibrary.org/obo/MONDO_0010476	NANDO:1201150	脳内鉄沈着神経変性症5型	Neurodegeneration with brain iron accumulation type5
C3694531	MedGen UID:854172	Glycogen storage disease IXa1	http://www.ncbi.nlm.nih.gov/medgen/854172	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010598	http://purl.obolibrary.org/obo/MONDO_0010598	NANDO:1201175	ホスホリラーゼキナーゼ欠損症	Phosphorylase kinase deficiency
C4707795	MedGen UID:1645432	Isolated focal cortical dysplasia	http://www.ncbi.nlm.nih.gov/medgen/1645432	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019009	http://purl.obolibrary.org/obo/MONDO_0019009	NANDO:2201498	限局性皮質異形成	Focal cortical dysplasia
C4749332	MedGen UID:1669432	Proton-pump inhibitor-responsive esophageal eosinophilia	http://www.ncbi.nlm.nih.gov/medgen/1669432	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018468	http://purl.obolibrary.org/obo/MONDO_0018468	NANDO:2201441	Proton pump inhibitor-responsive esophageal eosinophilia	Proton-pump inhibitor-responsive esophageal eosinophilia
C1838230	MedGen UID:325364	Spinal muscular atrophy, type IV	http://www.ncbi.nlm.nih.gov/medgen/325364	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010056	http://purl.obolibrary.org/obo/MONDO_0010056	NANDO:2201433	脊髄性筋萎縮症IV型	Spinal muscular atrophy type IV
C0032339	MedGen UID:10819	Rothmund-Thomson syndrome	http://www.ncbi.nlm.nih.gov/medgen/10819	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010002	http://purl.obolibrary.org/obo/MONDO_0010002	NANDO:2201527	ロスムンド・トムソン症候群	Rothmund-Thomson syndrome
C0039144	MedGen UID:21449	Syringomyelia	http://www.ncbi.nlm.nih.gov/medgen/21449	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017987	http://purl.obolibrary.org/obo/MONDO_0017987	NANDO:2201488	脊髄空洞症	Syringomyelia
C0039743	MedGen UID:21124	Thanatophoric dysplasia	http://www.ncbi.nlm.nih.gov/medgen/21124	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017042	http://purl.obolibrary.org/obo/MONDO_0017042	NANDO:2201426	タナトフォリック骨異形成症	Thanatophoric dysplasia
C0271693	MedGen UID:543499	Acquired generalized lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/543499	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019193	http://purl.obolibrary.org/obo/MONDO_0019193	NANDO:2201445	後天性全身性脂肪萎縮症	Acquired generalized lipodystrophy
C1865643	MedGen UID:356333	Progressive familial intrahepatic cholestasis type 3	http://www.ncbi.nlm.nih.gov/medgen/356333	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011214	http://purl.obolibrary.org/obo/MONDO_0011214	NANDO:2201438	進行性家族性肝内胆汁うっ滞症3型	Progressive familial intrahepatic cholestasis type 3
C2697932	MedGen UID:395827	Loeys-Dietz syndrome	http://www.ncbi.nlm.nih.gov/medgen/395827	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018954	http://purl.obolibrary.org/obo/MONDO_0018954	NANDO:1201159	ロイス・ディーツ症候群	Loeys–Dietz syndrome
C2750067	MedGen UID:412870	Congenital plasminogen activator inhibitor type 1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/412870	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013227	http://purl.obolibrary.org/obo/MONDO_0013227	NANDO:1201113	PAI-1 欠乏症	PAI-1 deficiency
C2750481	MedGen UID:442490	Factor XIII, b subunit, deficiency of	http://www.ncbi.nlm.nih.gov/medgen/442490	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013190	http://purl.obolibrary.org/obo/MONDO_0013190	NANDO:2201459	第XIII因子欠乏症I型	Type I factor XIII deficiency
C2750514	MedGen UID:442497	Factor XIII, A subunit, deficiency of	http://www.ncbi.nlm.nih.gov/medgen/442497	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013187	http://purl.obolibrary.org/obo/MONDO_0013187	NANDO:2201460	第XIII因子欠乏症II型	Type II factor XIII deficiency
C2752081	MedGen UID:414178	Alpha-2-plasmin inhibitor deficiency	http://www.ncbi.nlm.nih.gov/medgen/414178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009883	http://purl.obolibrary.org/obo/MONDO_0009883	NANDO:1201114	α2-PI 欠乏症	α2-plasmin inhibitor deficiency
C5445164	MedGen UID:1778573	Juvenile polyposis of infancy	http://www.ncbi.nlm.nih.gov/medgen/1778573	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019190	http://purl.obolibrary.org/obo/MONDO_0019190	NANDO:2201458	新生児・乳児期発症型若年性ポリポーシス	Juvenile polyposis of infancy
C0751360	MedGen UID:155852	Congenital myotonia, autosomal recessive form	http://www.ncbi.nlm.nih.gov/medgen/155852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009715	http://purl.obolibrary.org/obo/MONDO_0009715	NANDO:2201511	ベッカー病	Becker disease
C0856761	MedGen UID:163632	Budd-Chiari syndrome	http://www.ncbi.nlm.nih.gov/medgen/163632	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010947	http://purl.obolibrary.org/obo/MONDO_0010947	NANDO:2201475	バッド・キアリ症候群	Budd-Chiari syndrome
C0878682	MedGen UID:168057	Deficiency of ferroxidase	http://www.ncbi.nlm.nih.gov/medgen/168057	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011426	http://purl.obolibrary.org/obo/MONDO_0011426	NANDO:1201152	無セルロプラスミン血症	Aceruloplasminemia
C5679765	MedGen UID:1842666	Isolated focal cortical dysplasia type Ib	http://www.ncbi.nlm.nih.gov/medgen/1842666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017097	http://purl.obolibrary.org/obo/MONDO_0017097	NANDO:2201500	限局性皮質異形成タイプ1b	Focal cortical dysplasia type 1b
C5679767	MedGen UID:1843115	Isolated focal cortical dysplasia type Ia	http://www.ncbi.nlm.nih.gov/medgen/1843115	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017096	http://purl.obolibrary.org/obo/MONDO_0017096	NANDO:2201499	限局性皮質異形成タイプ1a	Focal cortical dysplasia type 1a
C5679768	MedGen UID:1842232	Isolated focal cortical dysplasia type IIb	http://www.ncbi.nlm.nih.gov/medgen/1842232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017102	http://purl.obolibrary.org/obo/MONDO_0017102	NANDO:2201503	限局性皮質異形成タイプ2b	Focal cortical dysplasia type 2b
CN262437	MedGen UID:945467	Berardinelli-Seip congenital lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/945467	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018883	http://purl.obolibrary.org/obo/MONDO_0018883	NANDO:2201444	先天性全身性脂肪萎縮症	Generalized congenital lipodystrophy
CN311573	MedGen UID:992104	Thomsen and Becker disease	http://www.ncbi.nlm.nih.gov/medgen/992104	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009710	http://purl.obolibrary.org/obo/MONDO_0009710	NANDO:2201509	先天性ミオトニー	Myotonia congenita
C1834014	MedGen UID:320250	Oculopharyngodistal myopathy	http://www.ncbi.nlm.nih.gov/medgen/320250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0025193	http://purl.obolibrary.org/obo/MONDO_0025193	NANDO:1200219	眼咽頭遠位型ミオパチー	Oculopharyngodistal myopathy
C0002880	MedGen UID:1918	Autoimmune hemolytic anemia	http://www.ncbi.nlm.nih.gov/medgen/1918	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020108	http://purl.obolibrary.org/obo/MONDO_0020108	NANDO:1200305	自己免疫性溶血性貧血	Autoimmune hemolytic anemia
C0162678	MedGen UID:58149	Neurofibromatosis	http://www.ncbi.nlm.nih.gov/medgen/58149	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021061	http://purl.obolibrary.org/obo/MONDO_0021061	NANDO:1200225	神経線維腫症	Neurofibromatosis
C0406344	MedGen UID:98025	Follicular ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/98025	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043094	http://purl.obolibrary.org/obo/MONDO_0043094	NANDO:1200628	毛包性魚鱗癬	Ichthyosis follicularis
C0406645	MedGen UID:96065	Amyopathic dermatomyositis	http://www.ncbi.nlm.nih.gov/medgen/96065	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043317	http://purl.obolibrary.org/obo/MONDO_0043317	NANDO:1200275	無筋症性皮膚筋炎	Amyopathic dermatomyositis
C0431391	MedGen UID:140910	Hemimegalencephaly	http://www.ncbi.nlm.nih.gov/medgen/140910	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020492	http://purl.obolibrary.org/obo/MONDO_0020492	NANDO:1200563	片側巨脳症	Hemimegalencephaly
C2349757	MedGen UID:908476	Iatrogenic Creutzfeldt-Jakob disease	http://www.ncbi.nlm.nih.gov/medgen/908476	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0034976	http://purl.obolibrary.org/obo/MONDO_0034976	NANDO:1200193	医原性クロイツフェルト・ヤコブ病	Iatrogenic Creutzfeldt-Jakob disease
C2584778	MedGen UID:391723	Acquired thrombotic thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/391723	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019740	http://purl.obolibrary.org/obo/MONDO_0019740	NANDO:1200318	後天性原発性血栓性血小板減少性紫斑病	Acquired idiopathic thrombotic thrombocytopenic purpura
C5234937	MedGen UID:1720114	Decreased circulating IgG concentration	http://www.ncbi.nlm.nih.gov/medgen/1720114	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0045045	http://purl.obolibrary.org/obo/MONDO_0045045	NANDO:1200346	IgGサブクラス欠損症	IgG subclass deficiency
C0022680	MedGen UID:9639	Polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/9639	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020642	http://purl.obolibrary.org/obo/MONDO_0020642	NANDO:1200367	多発性嚢胞腎	Polycystic kidney disease
C0025312	MedGen UID:7538	Myelomeningocele	http://www.ncbi.nlm.nih.gov/medgen/7538	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019773	http://purl.obolibrary.org/obo/MONDO_0019773	NANDO:1200509	脊髄髄膜瘤	Myelomeningocele
C0026850	MedGen UID:44527	Muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/44527	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020121	http://purl.obolibrary.org/obo/MONDO_0020121	NANDO:1200486	筋ジストロフィー	Muscular dystrophy
C0268381	MedGen UID:75674	AL amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/75674	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019438	http://purl.obolibrary.org/obo/MONDO_0019438	NANDO:1200211	免疫グロブリン性アミロイドーシス	Amyloid light-chain amyloidosis
C0268743	MedGen UID:124345	Mesangiocapillary glomerulonephritis, type II	http://www.ncbi.nlm.nih.gov/medgen/124345	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019736	http://purl.obolibrary.org/obo/MONDO_0019736	NANDO:1200739	一次性膜性増殖性糸球体腎炎II型	Primary membranoproliferative glomerulonephritis type II
C0270724	MedGen UID:82852	Infantile neuroaxonal dystrophy	http://www.ncbi.nlm.nih.gov/medgen/82852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024457	http://purl.obolibrary.org/obo/MONDO_0024457	NANDO:1200537	脳内鉄沈着神経変性症2型	Neurodegeneration with brain iron accumulation type 2
C0270960	MedGen UID:124381	Congenital myopathy	http://www.ncbi.nlm.nih.gov/medgen/124381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019952	http://purl.obolibrary.org/obo/MONDO_0019952	NANDO:1200477	先天性ミオパチー	Congenital myopathy
C0346303	MedGen UID:87550	TSH-secreting pituitary adenoma	http://www.ncbi.nlm.nih.gov/medgen/87550	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019611	http://purl.obolibrary.org/obo/MONDO_0019611	NANDO:1200377	下垂体性TSH分泌亢進症	Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome
C0393570	MedGen UID:95979	Corticobasal degeneration disorder	http://www.ncbi.nlm.nih.gov/medgen/95979	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0022308	http://purl.obolibrary.org/obo/MONDO_0022308	NANDO:1200011	大脳皮質基底核変性症	Corticobasal degeneration
C0393703	MedGen UID:140741	Epilepsy with myoclonic absences	http://www.ncbi.nlm.nih.gov/medgen/140741	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019487	http://purl.obolibrary.org/obo/MONDO_0019487	NANDO:1200589	ミオクロニー欠神てんかん	Myoclonic absence epilepsy
C0393706	MedGen UID:97959	Early infantile epileptic encephalopathy with suppression bursts	http://www.ncbi.nlm.nih.gov/medgen/97959	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100062	http://purl.obolibrary.org/obo/MONDO_0100062	NANDO:1200593	大田原症候群	Ohtahara syndrome
C0549118	MedGen UID:639806	Idiopathic hemiconvulsion-hemiplegia syndrome	http://www.ncbi.nlm.nih.gov/medgen/639806	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019485	http://purl.obolibrary.org/obo/MONDO_0019485	NANDO:1200596	片側痙攣・片麻痺・てんかん症候群	Hemiconvulsion-hemiplegia-epilepsy syndrome
C1858558	MedGen UID:346934	Systemic-onset juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/346934	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019434	http://purl.obolibrary.org/obo/MONDO_0019434	NANDO:1200470	全身型若年性特発性関節炎	Systemic juvenile idiopathic arthritis
C4749367	MedGen UID:1659013	Mesial temporal lobe epilepsy with hippocampal sclerosis	http://www.ncbi.nlm.nih.gov/medgen/1659013	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020476	http://purl.obolibrary.org/obo/MONDO_0020476	NANDO:1200588	海馬硬化を伴う内側側頭葉てんかん	Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis
C0086774	MedGen UID:39693	Paroxysmal cold hemoglobinuria	http://www.ncbi.nlm.nih.gov/medgen/39693	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019533	http://purl.obolibrary.org/obo/MONDO_0019533	NANDO:1200308	発作性寒冷ヘモグロビン尿症	Paroxysmal cold hemoglobinuria
C0152081	MedGen UID:508876	Pustular psoriasis	http://www.ncbi.nlm.nih.gov/medgen/508876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0022205	http://purl.obolibrary.org/obo/MONDO_0022205	NANDO:1200240	膿疱性乾癬（汎発型）	Pustular psoriasis
C1838979	MedGen UID:374101	Mitochondrial complex I deficiency	http://www.ncbi.nlm.nih.gov/medgen/374101	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100133	http://purl.obolibrary.org/obo/MONDO_0100133	NANDO:1200180	複合体I欠損症	Mitochondrial complex I deficiency
C4551624	MedGen UID:1637664	Idiopathic basal ganglia calcification 1	http://www.ncbi.nlm.nih.gov/medgen/1637664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024538	http://purl.obolibrary.org/obo/MONDO_0024538	NANDO:1200208	家族性特発性基底核石灰化症	Familial idiopathic basal ganglia calcification
C5554235	MedGen UID:1842393	Multiple system atrophy, parkinsonian type	http://www.ncbi.nlm.nih.gov/medgen/1842393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020352	http://purl.obolibrary.org/obo/MONDO_0020352	NANDO:1200036	MSA-P	Multiple system atrophy, Parkinsonian type
C5671327	MedGen UID:1812310	Dextro-looped transposition of the great arteries	http://www.ncbi.nlm.nih.gov/medgen/1812310	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019443	http://purl.obolibrary.org/obo/MONDO_0019443	NANDO:1200698	修正大血管転位症	Corrected transposition of great arteries
C0033847	MedGen UID:18733	Pseudoxanthoma elasticum	http://www.ncbi.nlm.nih.gov/medgen/18733	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024308	http://purl.obolibrary.org/obo/MONDO_0024308	NANDO:1200643	弾性線維性仮性黄色腫	Pseudoxanthoma elasticum
C0043346	MedGen UID:21943	Xeroderma pigmentosum	http://www.ncbi.nlm.nih.gov/medgen/21943	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019600	http://purl.obolibrary.org/obo/MONDO_0019600	NANDO:1200608	色素性乾皮症	Xeroderma pigmentosum
C0043459	MedGen UID:21958	Zellweger spectrum disorders	http://www.ncbi.nlm.nih.gov/medgen/21958	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019609	http://purl.obolibrary.org/obo/MONDO_0019609	NANDO:1200760	ツェルベーガー症候群	Zellweger syndrome
C0272118	MedGen UID:450541	Autoimmune hemolytic anemia, warm type	http://www.ncbi.nlm.nih.gov/medgen/450541	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019532	http://purl.obolibrary.org/obo/MONDO_0019532	NANDO:1200306	温式自己免疫性溶血性貧血	Warm antibody hemolytic anemia
C0282102	MedGen UID:79381	Chondrodysplasia punctata 2 X-linked dominant	http://www.ncbi.nlm.nih.gov/medgen/79381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020603	http://purl.obolibrary.org/obo/MONDO_0020603	NANDO:1200630	Conradi-Hünermann-Happle 症候群	Conradi Hünermann Happle syndrome
C2931187	MedGen UID:419735	Nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/419735	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100151	http://purl.obolibrary.org/obo/MONDO_0100151	NANDO:1200162	腎型シスチン症	Nephropathic cystinosis
C4305257	MedGen UID:930926	Mixed-type autoimmune hemolytic anemia	http://www.ncbi.nlm.nih.gov/medgen/930926	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019534	http://purl.obolibrary.org/obo/MONDO_0019534	NANDO:1200309	混合型自己免疫性溶血性貧血	Mixed-type autoimmune hemolytic anemia
C5437635	MedGen UID:1725198	Autosomal recessive epidermolytic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1725198	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044742	http://purl.obolibrary.org/obo/MONDO_0044742	NANDO:1200612	常染色体劣性表皮融解性魚鱗癬	Autosomal recessive epidermolytic ichthyosis
C0013720	MedGen UID:41720	Ehlers-Danlos syndrome	http://www.ncbi.nlm.nih.gov/medgen/41720	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020066	http://purl.obolibrary.org/obo/MONDO_0020066	NANDO:1200645	エーラス・ダンロス症候群	Ehlers-Danlos Syndrome
C0014518	MedGen UID:4501	Toxic epidermal necrolysis	http://www.ncbi.nlm.nih.gov/medgen/4501	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019810	http://purl.obolibrary.org/obo/MONDO_0019810	NANDO:1200246	中毒性表皮壊死症	Toxic epidermal necrolysis
C0019243	MedGen UID:9229	Hereditary angioneurotic edema	http://www.ncbi.nlm.nih.gov/medgen/9229	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019623	http://purl.obolibrary.org/obo/MONDO_0019623	NANDO:1200365	遺伝性血管性浮腫	Hereditary angioedema
C0240903	MedGen UID:69122	Rheumatoid vasculitis	http://www.ncbi.nlm.nih.gov/medgen/69122	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043267	http://purl.obolibrary.org/obo/MONDO_0043267	NANDO:1200265	悪性関節リウマチ	Rheumatoid vasculitis
C0751122	MedGen UID:148243	Severe myoclonic epilepsy in infancy	http://www.ncbi.nlm.nih.gov/medgen/148243	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100135	http://purl.obolibrary.org/obo/MONDO_0100135	NANDO:1200587	ドラベ症候群	Dravet syndrome
C0751651	MedGen UID:155901	Mitochondrial disease	http://www.ncbi.nlm.nih.gov/medgen/155901	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044970	http://purl.obolibrary.org/obo/MONDO_0044970	NANDO:1200173	ミトコンドリア病	Mitochondrial diseases
C1290344	MedGen UID:220936	Non-specific interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/220936	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019622	http://purl.obolibrary.org/obo/MONDO_0019622	NANDO:1200419	非特異的間質性肺炎 	Non-specific interstitial pneumonia
C5680022	MedGen UID:1842468	Inherited dystonia	http://www.ncbi.nlm.nih.gov/medgen/1842468	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044807	http://purl.obolibrary.org/obo/MONDO_0044807	NANDO:1200511	遺伝性ジストニア	Hereditary dystonia
CN377632	MedGen UID:1052865	Autosomal dominant epidermolytic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1052865	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020702	http://purl.obolibrary.org/obo/MONDO_0020702	NANDO:1200611	常染色体優性表皮融解性魚鱗癬	Autosomal dominant epidermolytic ichthyosis
C1848201	MedGen UID:336288	Subcortical band heterotopia	http://www.ncbi.nlm.nih.gov/medgen/336288	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020491	http://purl.obolibrary.org/obo/MONDO_0020491	NANDO:1201070	皮質下帯状異所性灰白質	Subcortical band heterotopia
C0001169	MedGen UID:98	Acquired coagulation factor deficiency	http://www.ncbi.nlm.nih.gov/medgen/98	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020599	http://purl.obolibrary.org/obo/MONDO_0020599	NANDO:1200896	自己免疫性後天性凝固因子欠乏症	Autoimmune acquired coagulation factor deficiency
C0002880	MedGen UID:1918	Autoimmune hemolytic anemia	http://www.ncbi.nlm.nih.gov/medgen/1918	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020108	http://purl.obolibrary.org/obo/MONDO_0020108	NANDO:2100181	自己免疫性溶血性貧血	Autoimmune hemolytic anemia
C0158570	MedGen UID:56387	Vascular malformation	http://www.ncbi.nlm.nih.gov/medgen/56387	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024291	http://purl.obolibrary.org/obo/MONDO_0024291	NANDO:2100295	脈管奇形	Vascular malformation
C0158618	MedGen UID:57857	Congenital mitral stenosis	http://www.ncbi.nlm.nih.gov/medgen/57857	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020398	http://purl.obolibrary.org/obo/MONDO_0020398	NANDO:1200963	先天性僧帽弁狭窄症	Congenital mitral stenosis
C0162569	MedGen UID:57940	Hepatoerythropoietic porphyria	http://www.ncbi.nlm.nih.gov/medgen/57940	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019799	http://purl.obolibrary.org/obo/MONDO_0019799	NANDO:1200819	肝性骨髄性ポルフィリン症	Hepatoerythropoietic porphyria
C0221018	MedGen UID:65119	Hereditary sideroblastic anemia	http://www.ncbi.nlm.nih.gov/medgen/65119	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020099	http://purl.obolibrary.org/obo/MONDO_0020099	NANDO:1200892	遺伝性鉄芽球性貧血	Hereditary sideroblastic anemia
C0221468	MedGen UID:526251	Vitamin D-dependent rickets	http://www.ncbi.nlm.nih.gov/medgen/526251	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024299	http://purl.obolibrary.org/obo/MONDO_0024299	NANDO:1200781	ビタミンD依存性くる病/骨軟化症	Vitamin D-dependent rickets / Osteomalacia
C5243927	MedGen UID:1800807	Acid sphingomyelinase deficiency	http://www.ncbi.nlm.nih.gov/medgen/1800807	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100464	http://purl.obolibrary.org/obo/MONDO_0100464	NANDO:1201084	酸性スフィンゴミエリナーゼ欠損症	Acid sphingomyelinase deficiency
C5848305	MedGen UID:1844832	Porphyria	http://www.ncbi.nlm.nih.gov/medgen/1844832	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0037939	http://purl.obolibrary.org/obo/MONDO_0037939	NANDO:1200811	ポルフィリン症	Porphyria
C0022661	MedGen UID:9637	Chronic renal failure syndrome	http://www.ncbi.nlm.nih.gov/medgen/9637	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024327	http://purl.obolibrary.org/obo/MONDO_0024327	NANDO:2100023	慢性腎不全	Chronic renal failure
C0026850	MedGen UID:44527	Muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/44527	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020121	http://purl.obolibrary.org/obo/MONDO_0020121	NANDO:2100233	筋ジストロフィー	Muscular dystrophy
C0268634	MedGen UID:468968	Disorder of fatty acid metabolism	http://www.ncbi.nlm.nih.gov/medgen/468968	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0037858	http://purl.obolibrary.org/obo/MONDO_0037858	NANDO:2100162	脂肪酸代謝異常症	Disorder of fatty-acid metabolism
C0270960	MedGen UID:124381	Congenital myopathy	http://www.ncbi.nlm.nih.gov/medgen/124381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019952	http://purl.obolibrary.org/obo/MONDO_0019952	NANDO:2100234	先天性ミオパチー	Congenital myopathy
C0271097	MedGen UID:78754	Usher syndrome	http://www.ncbi.nlm.nih.gov/medgen/78754	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019501	http://purl.obolibrary.org/obo/MONDO_0019501	NANDO:1200941	アッシャー症候群	Usher syndrome
C0349636	MedGen UID:83896	Precursor B-cell acute lymphoblastic leukemia	http://www.ncbi.nlm.nih.gov/medgen/83896	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020511	http://purl.obolibrary.org/obo/MONDO_0020511	NANDO:2200001	前駆B細胞急性リンパ性白血病	B-cell precursor lymphoblastic leukemia
C1263739	MedGen UID:468982	Disorder of organic acid metabolism	http://www.ncbi.nlm.nih.gov/medgen/468982	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0045022	http://purl.obolibrary.org/obo/MONDO_0045022	NANDO:2100161	有機酸代謝異常症	Disorder of organic acid metabolism
C1862839	MedGen UID:350766	Anterior segment dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/350766	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019503	http://purl.obolibrary.org/obo/MONDO_0019503	NANDO:1201000	前眼部形成異常	Anterior segment dysgenesis
C3536983	MedGen UID:760752	Vitamin D-dependent rickets, type 2	http://www.ncbi.nlm.nih.gov/medgen/760752	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019642	http://purl.obolibrary.org/obo/MONDO_0019642	NANDO:1200783	ビタミンD依存症2型	Vitamin D-dependent rickets, type 2
C4273988	MedGen UID:908684	Benign adult familial myoclonic epilepsy	http://www.ncbi.nlm.nih.gov/medgen/908684	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019448	http://purl.obolibrary.org/obo/MONDO_0019448	NANDO:1200956	良性成人型家族性ミオクローヌスてんかん	Benign adult familial myoclonus epilepsy
C4707560	MedGen UID:1647585	Adult pure red cell aplasia	http://www.ncbi.nlm.nih.gov/medgen/1647585	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020338	http://purl.obolibrary.org/obo/MONDO_0020338	NANDO:1200889	後天性赤芽球癆	Acquired pure red cell aplasia
C0149670	MedGen UID:472889	Carbohydrate metabolism disease	http://www.ncbi.nlm.nih.gov/medgen/472889	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0037792	http://purl.obolibrary.org/obo/MONDO_0037792	NANDO:2100164	糖質代謝異常症	Disorder of carbohydrate metabolism
C0339508	MedGen UID:137919	Hereditary macular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/137919	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020242	http://purl.obolibrary.org/obo/MONDO_0020242	NANDO:1200931	黄斑ジストロフィー	Macular dystrophy
C0342844	MedGen UID:575248	Glycoprotein metabolism disease	http://www.ncbi.nlm.nih.gov/medgen/575248	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0045010	http://purl.obolibrary.org/obo/MONDO_0045010	NANDO:2100301	糖蛋白代謝障害	Disorders of glycoprotein metabolism
C3890737	MedGen UID:855741	Autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/855741	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019751	http://purl.obolibrary.org/obo/MONDO_0019751	NANDO:2100156	自己炎症性疾患	Autoinflammatory disease
C0033806	MedGen UID:46178	Pseudohypoparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/46178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019992	http://purl.obolibrary.org/obo/MONDO_0019992	NANDO:1200776	偽性副甲状腺機能低下症	Pseudohypoparathyroidism
C0271694	MedGen UID:124408	Familial partial lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/124408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020088	http://purl.obolibrary.org/obo/MONDO_0020088	NANDO:1200861	家族性部分性脂肪萎縮症	Familial partial lipodystrophy
C0271933	MedGen UID:82891	Congenital dyserythropoietic anemia, type I	http://www.ncbi.nlm.nih.gov/medgen/82891	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020337	http://purl.obolibrary.org/obo/MONDO_0020337	NANDO:1200886	先天性赤血球形成異常性貧血 Type I	Congenital dyserythropoietic anemia type I
C0272328	MedGen UID:543977	Acquired factor X deficiency	http://www.ncbi.nlm.nih.gov/medgen/543977	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021134	http://purl.obolibrary.org/obo/MONDO_0021134	NANDO:1201048	自己免疫性後天性凝固第X因子欠乏症	Acquired factor X inhibitor
C0272362	MedGen UID:543999	Acquired von willebrand syndrome	http://www.ncbi.nlm.nih.gov/medgen/543999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020460	http://purl.obolibrary.org/obo/MONDO_0020460	NANDO:1200899	自己免疫性後天性フォンウィルブランド因子欠乏症	Acquired von Willebrand disease
C1868720	MedGen UID:358387	Periventricular nodular heterotopia	http://www.ncbi.nlm.nih.gov/medgen/358387	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020341	http://purl.obolibrary.org/obo/MONDO_0020341	NANDO:1201079	脳室周囲結節状異所性灰白質	Periventricular nodular heterotopia
C1879321	MedGen UID:361829	Acute myeloblastic leukemia with maturation	http://www.ncbi.nlm.nih.gov/medgen/361829	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020320	http://purl.obolibrary.org/obo/MONDO_0020320	NANDO:2200006	成熟を伴う急性骨髄性白血病	Acute myeloid leukemia with maturation
C5436733	MedGen UID:1725534	Vitamin D-dependent rickets, type 3	http://www.ncbi.nlm.nih.gov/medgen/1725534	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0033640	http://purl.obolibrary.org/obo/MONDO_0033640	NANDO:1201094	ビタミンD依存症 3型	Vitamin D-dependent rickets, type 3
C0021051	MedGen UID:7034	Immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/7034	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021094	http://purl.obolibrary.org/obo/MONDO_0021094	NANDO:2100204	免疫不全を伴う特徴的な症候群	Immunodeficiency
C0238120	MedGen UID:1393253	Acquired factor XIII deficiency	http://www.ncbi.nlm.nih.gov/medgen/1393253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021133	http://purl.obolibrary.org/obo/MONDO_0021133	NANDO:1200897	自己免疫性後天性凝固第 XIII/13 因子欠乏症	Autoimmune hemorrhaphilia XIII/13
C0265316	MedGen UID:82706	Neurocutaneous syndrome	http://www.ncbi.nlm.nih.gov/medgen/82706	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0042983	http://purl.obolibrary.org/obo/MONDO_0042983	NANDO:2100220	神経皮膚症候群	Neurocutaneous syndrome
C0751651	MedGen UID:155901	Mitochondrial disease	http://www.ncbi.nlm.nih.gov/medgen/155901	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044970	http://purl.obolibrary.org/obo/MONDO_0044970	NANDO:2100163	ミトコンドリア病	Mitochondrial diseases
C0751778	MedGen UID:199732	Progressive myoclonic epilepsy	http://www.ncbi.nlm.nih.gov/medgen/199732	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020074	http://purl.obolibrary.org/obo/MONDO_0020074	NANDO:2100237	進行性ミオクローヌスてんかん	Progressive myoclonus epilepsy
C0751778	MedGen UID:199732	Progressive myoclonic epilepsy	http://www.ncbi.nlm.nih.gov/medgen/199732	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020074	http://purl.obolibrary.org/obo/MONDO_0020074	NANDO:1200953	進行性ミオクローヌスてんかん	Progressive myoclonus epilepsy
C0857305	MedGen UID:208992	Thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/208992	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043768	http://purl.obolibrary.org/obo/MONDO_0043768	NANDO:2100188	血小板減少性紫斑病	Thrombocytopenic purpura
C5680269	MedGen UID:1842920	AApoAI amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/1842920	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019731	http://purl.obolibrary.org/obo/MONDO_0019731	NANDO:1201062	家族性アミロイドニューロパチーIII型	Familial amyloid polyneuropathy type 3
CN283242	MedGen UID:968221	Vitamin D-dependent rickets, type 1A	http://www.ncbi.nlm.nih.gov/medgen/968221	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020723	http://purl.obolibrary.org/obo/MONDO_0020723	NANDO:1201092	ビタミンD依存症 1A型	Vitamin D-dependent rickets, type 1A
CN294825	MedGen UID:978099	A20 haploinsufficiency	http://www.ncbi.nlm.nih.gov/medgen/978099	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100222	http://purl.obolibrary.org/obo/MONDO_0100222	NANDO:1200997	A20ハプロ不全症	A20 haploinsufficiency
CN377664	MedGen UID:1052972	Amino acid metabolism disease	http://www.ncbi.nlm.nih.gov/medgen/1052972	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0037871	http://purl.obolibrary.org/obo/MONDO_0037871	NANDO:2100160	アミノ酸代謝異常症	Disorder of amino acid metabolism
C0001206	MedGen UID:1304	Acromegaly	http://www.ncbi.nlm.nih.gov/medgen/1304	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019933	http://purl.obolibrary.org/obo/MONDO_0019933	NANDO:2200315	先端巨大症	Acromegaly
C0001231	MedGen UID:103	Ectopic ACTH secretion syndrome	http://www.ncbi.nlm.nih.gov/medgen/103	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043472	http://purl.obolibrary.org/obo/MONDO_0043472	NANDO:2200351	異所性副腎皮質刺激ホルモン産生症候群	Ectopic ACTH syndrome
C0003507	MedGen UID:1621	Aortic valve stenosis	http://www.ncbi.nlm.nih.gov/medgen/1621	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0042981	http://purl.obolibrary.org/obo/MONDO_0042981	NANDO:2200306	大動脈弁狭窄症	Aortic valve stenosis
C0003516	MedGen UID:365	Aortopulmonary window	http://www.ncbi.nlm.nih.gov/medgen/365	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021902	http://purl.obolibrary.org/obo/MONDO_0021902	NANDO:2200262	大動脈肺動脈窓	Aorto-pulmonary window
C0011993	MedGen UID:41532	VIPoma	http://www.ncbi.nlm.nih.gov/medgen/41532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019960	http://purl.obolibrary.org/obo/MONDO_0019960	NANDO:2200394	VIP産生腫瘍	Vipoma
C0158634	MedGen UID:450995	Partial anomalous pulmonary venous return	http://www.ncbi.nlm.nih.gov/medgen/450995	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020453	http://purl.obolibrary.org/obo/MONDO_0020453	NANDO:2200272	部分肺静脈還流異常症	Partial anomalous pulmonary venous connection
C0206180	MedGen UID:61533	Anaplastic large cell lymphoma	http://www.ncbi.nlm.nih.gov/medgen/61533	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020325	http://purl.obolibrary.org/obo/MONDO_0020325	NANDO:2200021	未分化大細胞リンパ腫	Anaplastic large cell lymphoma
C0221468	MedGen UID:526251	Vitamin D-dependent rickets	http://www.ncbi.nlm.nih.gov/medgen/526251	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024299	http://purl.obolibrary.org/obo/MONDO_0024299	NANDO:2200401	ビタミンD依存性くる病	Vitamin D-dependent rickets
C0022680	MedGen UID:9639	Polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/9639	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020642	http://purl.obolibrary.org/obo/MONDO_0020642	NANDO:2200152	多発性嚢胞腎	Polycystic kidney disease
C0023480	MedGen UID:44125	Chronic myelomonocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/44125	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020311	http://purl.obolibrary.org/obo/MONDO_0020311	NANDO:2200014	慢性骨髄単球性白血病	Chronic myelomonocytic leukemia
C0265851	MedGen UID:539536	Congenital supravalvular mitral ring	http://www.ncbi.nlm.nih.gov/medgen/539536	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020400	http://purl.obolibrary.org/obo/MONDO_0020400	NANDO:2200308	僧帽弁弁上輪	Supramitral ring
C0265905	MedGen UID:120560	Absent pulmonary artery	http://www.ncbi.nlm.nih.gov/medgen/120560	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020007	http://purl.obolibrary.org/obo/MONDO_0020007	NANDO:2200282	一側肺動脈欠損	Unilateral absence of a pulmonary artery
C0266283	MedGen UID:78591	Ectopic thyroid	http://www.ncbi.nlm.nih.gov/medgen/78591	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019854	http://purl.obolibrary.org/obo/MONDO_0019854	NANDO:2200330	異所性甲状腺	Ectoic thyroid
C0266295	MedGen UID:120571	Renal hypoplasia	http://www.ncbi.nlm.nih.gov/medgen/120571	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019637	http://purl.obolibrary.org/obo/MONDO_0019637	NANDO:2200155	低形成腎	Hypoplastic kidney
C0392788	MedGen UID:140278	Extranodal nasal NK/T cell lymphoma	http://www.ncbi.nlm.nih.gov/medgen/140278	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019472	http://purl.obolibrary.org/obo/MONDO_0019472	NANDO:2200027	節外性NK/T細胞リンパ腫-鼻型	Extranodal NK/T-cell lymphoma, nasal type
C0431719	MedGen UID:609113	Multiloculated renal cyst	http://www.ncbi.nlm.nih.gov/medgen/609113	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019983	http://purl.obolibrary.org/obo/MONDO_0019983	NANDO:2200171	多房性腎嚢胞	Multilocular cysts of the kidney
C0522624	MedGen UID:99306	Subcutaneous panniculitis-like T-cell lymphoma	http://www.ncbi.nlm.nih.gov/medgen/99306	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019475	http://purl.obolibrary.org/obo/MONDO_0019475	NANDO:2200030	皮下脂肪織炎様T細胞リンパ腫	Sucutaneous panniculitis-like T-cell lymphoma
C0948187	MedGen UID:215296	Tracheomalacia	http://www.ncbi.nlm.nih.gov/medgen/215296	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019804	http://purl.obolibrary.org/obo/MONDO_0019804	NANDO:2200195	気管軟化症	Tracheomalacia
C1260327	MedGen UID:266041	Langerhans cell sarcoma	http://www.ncbi.nlm.nih.gov/medgen/266041	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019480	http://purl.obolibrary.org/obo/MONDO_0019480	NANDO:2200036	ランゲルハンス細胞肉腫	Langerhans cell sarcoma
C1266184	MedGen UID:226853	Atypical teratoid rhabdoid tumor	http://www.ncbi.nlm.nih.gov/medgen/226853	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020560	http://purl.obolibrary.org/obo/MONDO_0020560	NANDO:2200101	異型奇形腫瘍／ラブドイド腫瘍	Atypical teratoid, rhabdoid tumour
C3536714	MedGen UID:760690	Renal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/760690	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019638	http://purl.obolibrary.org/obo/MONDO_0019638	NANDO:2200161	腎異形成	Renal dysplasia
C0334520	MedGen UID:90798	Immature teratoma	http://www.ncbi.nlm.nih.gov/medgen/90798	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024746	http://purl.obolibrary.org/obo/MONDO_0024746	NANDO:2200106	未成熟奇形腫	Immature teratoma
C0344724	MedGen UID:91034	Atrial septal defect, ostium secundum type	http://www.ncbi.nlm.nih.gov/medgen/91034	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020434	http://purl.obolibrary.org/obo/MONDO_0020434	NANDO:2200266	二次孔型心房中隔欠損症	Atrial septal defect, ostium secundum type
C0344730	MedGen UID:138011	Sinus venosus atrial septal defect	http://www.ncbi.nlm.nih.gov/medgen/138011	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020436	http://purl.obolibrary.org/obo/MONDO_0020436	NANDO:2200267	静脈洞型心房中隔欠損症	Atrial septal defect, sinus venosus type
C0344947	MedGen UID:576645	Congenital Gerbode defect	http://www.ncbi.nlm.nih.gov/medgen/576645	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020428	http://purl.obolibrary.org/obo/MONDO_0020428	NANDO:2200274	左室右房交通症	Left ventricular-right atrial communication
C0344983	MedGen UID:576671	Pulmonary valve agenesis	http://www.ncbi.nlm.nih.gov/medgen/576671	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020064	http://purl.obolibrary.org/obo/MONDO_0020064	NANDO:2200280	肺動脈弁欠損	Absent pulmonary valve
C0749420	MedGen UID:155447	Thyroid agenesis	http://www.ncbi.nlm.nih.gov/medgen/155447	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019855	http://purl.obolibrary.org/obo/MONDO_0019855	NANDO:2200331	無甲状腺症	Thyroid agenesis
C1839543	MedGen UID:374250	Central nervous system malformation	http://www.ncbi.nlm.nih.gov/medgen/374250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020022	http://purl.obolibrary.org/obo/MONDO_0020022	NANDO:2200118	中枢神経奇形症候群	Central nervous system malformation syndrome
C3838927	MedGen UID:824773	Pulmonary artery coming from the aorta	http://www.ncbi.nlm.nih.gov/medgen/824773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020391	http://purl.obolibrary.org/obo/MONDO_0020391	NANDO:2200281	肺動脈上行大動脈起始症	Origin of pulmonary artery from ascending aorta
C0033806	MedGen UID:46178	Pseudohypoparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/46178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019992	http://purl.obolibrary.org/obo/MONDO_0019992	NANDO:2200349	偽性副甲状腺機能低下症	Pseudohypoparathyroidism
C0041408	MedGen UID:21734	Turner syndrome	http://www.ncbi.nlm.nih.gov/medgen/21734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019499	http://purl.obolibrary.org/obo/MONDO_0019499	NANDO:2200410	ターナー症候群	Turner syndrome
C0280141	MedGen UID:79081	Acute undifferentiated leukemia	http://www.ncbi.nlm.nih.gov/medgen/79081	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020321	http://purl.obolibrary.org/obo/MONDO_0020321	NANDO:2200017	急性未分化型白血病	Acute undifferentiated leukemia
C2751824	MedGen UID:414114	46,XY disorder of sex development	http://www.ncbi.nlm.nih.gov/medgen/414114	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020040	http://purl.obolibrary.org/obo/MONDO_0020040	NANDO:2200393	46,XX性分化疾患	Disorders of sex development of 46,XX
C2826025	MedGen UID:417342	Mixed phenotype acute leukemia	http://www.ncbi.nlm.nih.gov/medgen/417342	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020743	http://purl.obolibrary.org/obo/MONDO_0020743	NANDO:2200018	混合型急性白血病	Mixed phenotype acute leukemia
C5545379	MedGen UID:1782490	Congenital megacalycosis	http://www.ncbi.nlm.nih.gov/medgen/1782490	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019639	http://purl.obolibrary.org/obo/MONDO_0019639	NANDO:2200177	巨大腎杯症	Megacalycosis
C0017547	MedGen UID:6602	Gigantism	http://www.ncbi.nlm.nih.gov/medgen/6602	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020479	http://purl.obolibrary.org/obo/MONDO_0020479	NANDO:2200314	下垂体性巨人症	Pituitary gigantism
C0017689	MedGen UID:4908	Glucagonoma syndrome	http://www.ncbi.nlm.nih.gov/medgen/4908	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019959	http://purl.obolibrary.org/obo/MONDO_0019959	NANDO:2200397	グルカゴノーマ	Glucagonoma
C0018809	MedGen UID:9172	Neoplasm of the heart	http://www.ncbi.nlm.nih.gov/medgen/9172	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021209	http://purl.obolibrary.org/obo/MONDO_0021209	NANDO:2200236	心臓腫瘍	Cardiac tumor
C0021670	MedGen UID:43907	Pancreatic insulinoma	http://www.ncbi.nlm.nih.gov/medgen/43907	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024677	http://purl.obolibrary.org/obo/MONDO_0024677	NANDO:2200398	インスリノーマ	Insulinoma
C1292758	MedGen UID:266232	T-lymphoblastic lymphoma	http://www.ncbi.nlm.nih.gov/medgen/266232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044917	http://purl.obolibrary.org/obo/MONDO_0044917	NANDO:2200023	Tリンパ芽球性リンパ腫	Precursor T lymphoblastic lymphoma
C1292777	MedGen UID:266235	Aggressive NK-cell leukemia	http://www.ncbi.nlm.nih.gov/medgen/266235	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019470	http://purl.obolibrary.org/obo/MONDO_0019470	NANDO:2200012	NK細胞白血病	NK cell leukemia
C5681569	MedGen UID:1843262	Acquired pituitary hormone deficiency	http://www.ncbi.nlm.nih.gov/medgen/1843262	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019832	http://purl.obolibrary.org/obo/MONDO_0019832	NANDO:2200313	後天性下垂体機能低下症	Acquired hypopituitarism
C1832388	MedGen UID:321945	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	http://www.ncbi.nlm.nih.gov/medgen/321945	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100083	http://purl.obolibrary.org/obo/MONDO_0100083	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.
C0008445	MedGen UID:3052	Chondrodysplasia punctata	http://www.ncbi.nlm.nih.gov/medgen/3052	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019701	http://purl.obolibrary.org/obo/MONDO_0019701	NANDO:2201017	点状軟骨異形成症	Chondrodysplasia punctata
C0162569	MedGen UID:57940	Hepatoerythropoietic porphyria	http://www.ncbi.nlm.nih.gov/medgen/57940	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019799	http://purl.obolibrary.org/obo/MONDO_0019799	NANDO:2201270	肝性骨髄性ポルフィリン症	Hepatoerythropoietic porphyria
C2931825	MedGen UID:444150	Negative rheumatoid factor polyarthritis	http://www.ncbi.nlm.nih.gov/medgen/444150	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043152	http://purl.obolibrary.org/obo/MONDO_0043152	NANDO:2201057	若年性特発性関節炎（リウマトイド因子陰性多関節炎）	Rheumatoid factor-negative juvenile idiopathic arthritis
C2986717	MedGen UID:458943	Anti-NMDA receptor encephalitis	http://www.ncbi.nlm.nih.gov/medgen/458943	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021081	http://purl.obolibrary.org/obo/MONDO_0021081	NANDO:2201317	抗NMDA受容体脳炎	Anti-NMDA receptor encephalitis
C0025312	MedGen UID:7538	Myelomeningocele	http://www.ncbi.nlm.nih.gov/medgen/7538	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019773	http://purl.obolibrary.org/obo/MONDO_0019773	NANDO:2200814	脊髄髄膜瘤	Myelomeningocele
C0026987	MedGen UID:10146	Myelofibrosis	http://www.ncbi.nlm.nih.gov/medgen/10146	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044903	http://purl.obolibrary.org/obo/MONDO_0044903	NANDO:2200692	骨髄線維症	Myelofibrosis
C0268528	MedGen UID:75690	Hyperprolinemia	http://www.ncbi.nlm.nih.gov/medgen/75690	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0023419	http://purl.obolibrary.org/obo/MONDO_0023419	NANDO:2200471	高プロリン血症	Hyperprolinemia
C0270970	MedGen UID:543081	Reducing body myopathy	http://www.ncbi.nlm.nih.gov/medgen/543081	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019948	http://purl.obolibrary.org/obo/MONDO_0019948	NANDO:2200875	還元小体ミオパチー	Reducing body myopathy
C0542428	MedGen UID:107448	Hypochondrogenesis	http://www.ncbi.nlm.nih.gov/medgen/107448	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019669	http://purl.obolibrary.org/obo/MONDO_0019669	NANDO:2201346	軟骨低発生症	Hypochondrogenesis 
C1262483	MedGen UID:490161	Hereditary stomatocytosis	http://www.ncbi.nlm.nih.gov/medgen/490161	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020102	http://purl.obolibrary.org/obo/MONDO_0020102	NANDO:2200623	口唇赤血球症	Hereditary stomatocytosis
C1856143	MedGen UID:383843	Shiga toxin-associated hemolytic uremic syndrome	http://www.ncbi.nlm.nih.gov/medgen/383843	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019536	http://purl.obolibrary.org/obo/MONDO_0019536	NANDO:2200640	志賀毒素産生腸管出血性病原大腸菌による溶血性尿毒症症候群	Shiga toxin-producing escherichia coli hemolytic uremic syndrome
C1858558	MedGen UID:346934	Systemic-onset juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/346934	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019434	http://purl.obolibrary.org/obo/MONDO_0019434	NANDO:2201055	若年性特発性関節炎（全身型）	Systemic juvenile idiopathic arthritis
C3495919	MedGen UID:854059	Enthesitis-related juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/854059	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019437	http://purl.obolibrary.org/obo/MONDO_0019437	NANDO:2201060	若年性特発性関節炎（付着部炎関連関節炎）	Enthesitis-related juvenile idiopathic arthritis
C3826988	MedGen UID:819736	Juvenile polymyositis	http://www.ncbi.nlm.nih.gov/medgen/819736	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019734	http://purl.obolibrary.org/obo/MONDO_0019734	NANDO:2200419	若年性多発性筋炎	Juvenile polymyositis
C4707560	MedGen UID:1647585	Adult pure red cell aplasia	http://www.ncbi.nlm.nih.gov/medgen/1647585	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020338	http://purl.obolibrary.org/obo/MONDO_0020338	NANDO:2200613	後天性赤芽球癆	Acquired pure red cell aplasia
C0086774	MedGen UID:39693	Paroxysmal cold hemoglobinuria	http://www.ncbi.nlm.nih.gov/medgen/39693	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019533	http://purl.obolibrary.org/obo/MONDO_0019533	NANDO:2200619	発作性寒冷ヘモグロビン尿症	Paroxysmal cold hemoglobinuria
C0152081	MedGen UID:508876	Pustular psoriasis	http://www.ncbi.nlm.nih.gov/medgen/508876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0022205	http://purl.obolibrary.org/obo/MONDO_0022205	NANDO:2201001	膿疱性乾癬（汎発型）	Pustular psoriasis
C0341305	MedGen UID:83322	Autoimmune enteropathy	http://www.ncbi.nlm.nih.gov/medgen/83322	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019787	http://purl.obolibrary.org/obo/MONDO_0019787	NANDO:2200923	自己免疫性腸症	Autoimmune enteropathy
C3890733	MedGen UID:855737	Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/855737	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019435	http://purl.obolibrary.org/obo/MONDO_0019435	NANDO:2201058	若年性特発性関節炎（リウマトイド因子陽性多関節炎）	Rheumatoid factor-positive juvenile idiopathic arthritis
C5671289	MedGen UID:1804547	Autoimmune encephalitis	http://www.ncbi.nlm.nih.gov/medgen/1804547	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020640	http://purl.obolibrary.org/obo/MONDO_0020640	NANDO:2200902	自己免疫介在性脳炎・脳症	Autoimmune encephalitis
C0032580	MedGen UID:46010	Familial multiple polyposis syndrome	http://www.ncbi.nlm.nih.gov/medgen/46010	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021055	http://purl.obolibrary.org/obo/MONDO_0021055	NANDO:2200915	家族性腺腫性ポリポーシス	Familial adenomatous polyposis
C0042974	MedGen UID:22686	von Willebrand disorder	http://www.ncbi.nlm.nih.gov/medgen/22686	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024574	http://purl.obolibrary.org/obo/MONDO_0024574	NANDO:2200682	フォンウィルブランド病	Von Willebrand disease
C0043346	MedGen UID:21943	Xeroderma pigmentosum	http://www.ncbi.nlm.nih.gov/medgen/21943	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019600	http://purl.obolibrary.org/obo/MONDO_0019600	NANDO:2201002	色素性乾皮症	Xeroderma pigmentosum
C0272006	MedGen UID:82893	Unstable hemoglobin disease	http://www.ncbi.nlm.nih.gov/medgen/82893	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020459	http://purl.obolibrary.org/obo/MONDO_0020459	NANDO:2200625	不安定ヘモグロビン症	Unstable hemoglobin disease
C2931073	MedGen UID:419326	Type 2 collagenopathy	http://www.ncbi.nlm.nih.gov/medgen/419326	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0022800	http://purl.obolibrary.org/obo/MONDO_0022800	NANDO:2201016	2型コラーゲン異常症関連疾患	Type II collagenopathy
C2931187	MedGen UID:419735	Nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/419735	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100151	http://purl.obolibrary.org/obo/MONDO_0100151	NANDO:2201234	腎型シスチン症	Nephropathic cystinosis
C4317320	MedGen UID:1369551	Factor V deficiency	http://www.ncbi.nlm.nih.gov/medgen/1369551	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020586	http://purl.obolibrary.org/obo/MONDO_0020586	NANDO:2200674	第V因子欠乏症	Factor V deficiency
C4321502	MedGen UID:1386956	Factor XI deficiency	http://www.ncbi.nlm.nih.gov/medgen/1386956	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020587	http://purl.obolibrary.org/obo/MONDO_0020587	NANDO:2200679	第XI因子欠乏症	Factor XI deficiency
C5399971	MedGen UID:1746744	IFAP syndrome 1, with or without BRESHECK syndrome	http://www.ncbi.nlm.nih.gov/medgen/1746744	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100213	http://purl.obolibrary.org/obo/MONDO_0100213	NANDO:2200999	IFAP症候群	Ichthyosis-follicularis-atrichia-photophobia syndrome
C5435698	MedGen UID:1734133	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	http://www.ncbi.nlm.nih.gov/medgen/1734133	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100211	http://purl.obolibrary.org/obo/MONDO_0100211	NANDO:2200737	STAT5b欠損症	STAT5b deficiency
C5437635	MedGen UID:1725198	Autosomal recessive epidermolytic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1725198	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044742	http://purl.obolibrary.org/obo/MONDO_0044742	NANDO:2200989	常染色体劣性表皮融解性魚鱗癬	Autosomal recessive epidermolytic ichthyosis
C0013720	MedGen UID:41720	Ehlers-Danlos syndrome	http://www.ncbi.nlm.nih.gov/medgen/41720	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020066	http://purl.obolibrary.org/obo/MONDO_0020066	NANDO:2200607	エーラス・ダンロス症候群	Ehlers-Danlos syndrome
C0014518	MedGen UID:4501	Toxic epidermal necrolysis	http://www.ncbi.nlm.nih.gov/medgen/4501	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019810	http://purl.obolibrary.org/obo/MONDO_0019810	NANDO:2201007	中毒性表皮壊死症	Toxic epidermal necrolysis
C0019243	MedGen UID:9229	Hereditary angioneurotic edema	http://www.ncbi.nlm.nih.gov/medgen/9229	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019623	http://purl.obolibrary.org/obo/MONDO_0019623	NANDO:2200795	遺伝性血管性浮腫	Hereditary angioedema
C0559459	MedGen UID:107852	Sacrococcygeal teratoma	http://www.ncbi.nlm.nih.gov/medgen/107852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0042727	http://purl.obolibrary.org/obo/MONDO_0042727	NANDO:2200816	仙尾部奇形腫	Sacrococcygeal teratoma
C0751122	MedGen UID:148243	Severe myoclonic epilepsy in infancy	http://www.ncbi.nlm.nih.gov/medgen/148243	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100135	http://purl.obolibrary.org/obo/MONDO_0100135	NANDO:2200877	乳児重症ミオクロニーてんかん	Severe myoclonic epilepsy in infancy
C0867389	MedGen UID:167851	Chronic graft versus host disease	http://www.ncbi.nlm.nih.gov/medgen/167851	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020547	http://purl.obolibrary.org/obo/MONDO_0020547	NANDO:2200812	慢性移植片対宿主病	Chronic graft-versus-host disease
C5680196	MedGen UID:1842681	Unspecified juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/1842681	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019607	http://purl.obolibrary.org/obo/MONDO_0019607	NANDO:2201061	若年性特発性関節炎（分類不能関節炎）	Unclassifiable Juvenile idiopathic arthritis
C5700309	MedGen UID:1814581	Tyrosine hydroxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/1814581	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100064	http://purl.obolibrary.org/obo/MONDO_0100064	NANDO:2200595	チロシン水酸化酵素欠損症	Tyrosine hydroxylase deficiency
CN294825	MedGen UID:978099	A20 haploinsufficiency	http://www.ncbi.nlm.nih.gov/medgen/978099	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100222	http://purl.obolibrary.org/obo/MONDO_0100222	NANDO:2200458	A20ハプロ不全症	A20 haploinsufficiency
CN377632	MedGen UID:1052865	Autosomal dominant epidermolytic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1052865	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020702	http://purl.obolibrary.org/obo/MONDO_0020702	NANDO:2200988	常染色体優性表皮融解性魚鱗癬	Autosomal dominant epidermolytic ichthyosis
C1833104	MedGen UID:371484	Permanent neonatal diabetes mellitus	http://www.ncbi.nlm.nih.gov/medgen/371484	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100164	http://purl.obolibrary.org/obo/MONDO_0100164	NANDO:2201435	永続性新生児糖尿病	Permanent neonatal diabetes mellitus
C0221018	MedGen UID:65119	Hereditary sideroblastic anemia	http://www.ncbi.nlm.nih.gov/medgen/65119	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020099	http://purl.obolibrary.org/obo/MONDO_0020099	NANDO:2201470	遺伝性鉄芽球性貧血	Hereditary sideroblastic anemia
C0431391	MedGen UID:140910	Hemimegalencephaly	http://www.ncbi.nlm.nih.gov/medgen/140910	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020492	http://purl.obolibrary.org/obo/MONDO_0020492	NANDO:2201394	片側巨脳症	Hemimegaloencephaly
C0266294	MedGen UID:75607	Unilateral renal agenesis	http://www.ncbi.nlm.nih.gov/medgen/75607	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019636	http://purl.obolibrary.org/obo/MONDO_0019636	NANDO:2201461	一側腎無形成	Unilateral renal agenesis
C0268381	MedGen UID:75674	AL amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/75674	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019438	http://purl.obolibrary.org/obo/MONDO_0019438	NANDO:1201121	全身性 AL アミロイドーシス	Systemic AL Amyloidosis
C0270724	MedGen UID:82852	Infantile neuroaxonal dystrophy	http://www.ncbi.nlm.nih.gov/medgen/82852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024457	http://purl.obolibrary.org/obo/MONDO_0024457	NANDO:1201155	脳内鉄沈着神経変性症2A型	Neurodegeneration with brain iron accumulation type2A
C0393703	MedGen UID:140741	Epilepsy with myoclonic absences	http://www.ncbi.nlm.nih.gov/medgen/140741	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019487	http://purl.obolibrary.org/obo/MONDO_0019487	NANDO:2201406	ミオクロニー欠神てんかん	Epilepsy with myoclonic absence
C0393706	MedGen UID:97959	Early infantile epileptic encephalopathy with suppression bursts	http://www.ncbi.nlm.nih.gov/medgen/97959	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100062	http://purl.obolibrary.org/obo/MONDO_0100062	NANDO:2201398	大田原症候群	Ohtahara syndrome
C3826988	MedGen UID:819736	Juvenile polymyositis	http://www.ncbi.nlm.nih.gov/medgen/819736	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019734	http://purl.obolibrary.org/obo/MONDO_0019734	NANDO:1201133	若年性多発性筋炎	juvenile polymyositis
C0342273	MedGen UID:449530	Transitory neonatal diabetes mellitus	http://www.ncbi.nlm.nih.gov/medgen/449530	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020525	http://purl.obolibrary.org/obo/MONDO_0020525	NANDO:2201434	一過性新生児糖尿病	Transient neonatal diabetes mellitus
C0036420	MedGen UID:48586	Localized scleroderma	http://www.ncbi.nlm.nih.gov/medgen/48586	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019562	http://purl.obolibrary.org/obo/MONDO_0019562	NANDO:2201420	限局性強皮症	Localized scleroderma/morphea
C0271694	MedGen UID:124408	Familial partial lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/124408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020088	http://purl.obolibrary.org/obo/MONDO_0020088	NANDO:2201446	先天性部分性脂肪萎縮症	Familial partial lipodystrophy
C0282102	MedGen UID:79381	Chondrodysplasia punctata 2 X-linked dominant	http://www.ncbi.nlm.nih.gov/medgen/79381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020603	http://purl.obolibrary.org/obo/MONDO_0020603	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
C1868139	MedGen UID:358137	Tubulointerstitial kidney disease, autosomal dominant, 2	http://www.ncbi.nlm.nih.gov/medgen/358137	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020726	http://purl.obolibrary.org/obo/MONDO_0020726	NANDO:2201388	ADTKD-MUC1	ADTKD-MUC1
C4316789	MedGen UID:1386287	Partial lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/1386287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0027767	http://purl.obolibrary.org/obo/MONDO_0027767	NANDO:2201443	部分的脂肪萎縮症	Partial lipodystrophy
C4317112	MedGen UID:1369615	Generalized lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/1369615	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0027766	http://purl.obolibrary.org/obo/MONDO_0027766	NANDO:2201442	全身性脂肪萎縮症	Generalized lipodystrophy
C0263409	MedGen UID:75518	Linear scleroderma	http://www.ncbi.nlm.nih.gov/medgen/75518	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043294	http://purl.obolibrary.org/obo/MONDO_0043294	NANDO:2201422	線状強皮症	Linear scleroderma
CN293409	MedGen UID:976783	Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant	http://www.ncbi.nlm.nih.gov/medgen/976783	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020741	http://purl.obolibrary.org/obo/MONDO_0020741	NANDO:2201410	ピリドキシン依存性てんかん	Pyridoxine-dependent seizures
C0270733	MedGen UID:124366	Striatonigral degeneration	http://www.ncbi.nlm.nih.gov/medgen/124366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003122	http://purl.obolibrary.org/obo/MONDO_0003122	NANDO:1201118	線条体黒質変性症	striatonigral degeneration
C0028968	MedGen UID:10435	Olivopontocerebellar atrophy	http://www.ncbi.nlm.nih.gov/medgen/10435	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002017	http://purl.obolibrary.org/obo/MONDO_0002017	NANDO:1201119	オリーブ橋小脳萎縮症	olivopontocerebellar atrophy
C0242387	MedGen UID:66078	Treacher Collins syndrome	http://www.ncbi.nlm.nih.gov/medgen/66078	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002457	http://purl.obolibrary.org/obo/MONDO_0002457	NANDO:2201526	トリーチャーコリンズ症候群	Treacher Collins syndrome
C1563715	MedGen UID:327586	Andersen Tawil syndrome	http://www.ncbi.nlm.nih.gov/medgen/327586	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008222	http://purl.obolibrary.org/obo/MONDO_0008222	NANDO:1201117	Andersen-Tawil症候群	Andersen-Tawil syndrome
C1563715	MedGen UID:327586	Andersen Tawil syndrome	http://www.ncbi.nlm.nih.gov/medgen/327586	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008222	http://purl.obolibrary.org/obo/MONDO_0008222	NANDO:2201516	Andersen-Tawil症候群	Andersen-Tawil syndrome
C2936781	MedGen UID:422446	Congenital myotonia, autosomal dominant form	http://www.ncbi.nlm.nih.gov/medgen/422446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008055	http://purl.obolibrary.org/obo/MONDO_0008055	NANDO:2201510	トムゼン病	Thomsen disease
C0040588	MedGen UID:21228	Tracheoesophageal fistula	http://www.ncbi.nlm.nih.gov/medgen/21228	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008586	http://purl.obolibrary.org/obo/MONDO_0008586	NANDO:2201517	先天性食道閉鎖症	Congenital esophageal atresia
C1868512	MedGen UID:356995	Adult-onset autosomal dominant demyelinating leukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/356995	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008215	http://purl.obolibrary.org/obo/MONDO_0008215	NANDO:1201107	LMNB1 関連大脳白質脳症	Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
C0342286	MedGen UID:83337	Woodhouse-Sakati syndrome	http://www.ncbi.nlm.nih.gov/medgen/83337	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009419	http://purl.obolibrary.org/obo/MONDO_0009419	NANDO:1201154	Woodhouse-Sakati症候群	Woodhouse-Sakati syndrome
C0751037	MedGen UID:196713	Cockayne syndrome type 3	http://www.ncbi.nlm.nih.gov/medgen/196713	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008998	http://purl.obolibrary.org/obo/MONDO_0008998	NANDO:1201165	コケイン症候群III型	Cockayne syndrome type 3
C4304411	MedGen UID:930080	Xeroderma pigmentosum-Cockayne syndrome complex	http://www.ncbi.nlm.nih.gov/medgen/930080	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016354	http://purl.obolibrary.org/obo/MONDO_0016354	NANDO:1201166	コケイン症候群合併型	Xeroderma pigmentosum-Cockayne syndrome
C1847640	MedGen UID:338281	Kufor-Rakeb syndrome	http://www.ncbi.nlm.nih.gov/medgen/338281	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011706	http://purl.obolibrary.org/obo/MONDO_0011706	NANDO:1201153	Kufor-Rakeb症候群	Kufor-Rakeb syndrome
C5779872	MedGen UID:1830421	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	http://www.ncbi.nlm.nih.gov/medgen/1830421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016779	http://purl.obolibrary.org/obo/MONDO_0016779	NANDO:2201523	鏡・緒方症候群	Kagami-Ogata syndrome
C1857747	MedGen UID:346658	Neurodegeneration with brain iron accumulation 2B	http://www.ncbi.nlm.nih.gov/medgen/346658	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012444	http://purl.obolibrary.org/obo/MONDO_0012444	NANDO:1201156	脳内鉄沈着神経変性症2B型	Neurodegeneration with brain iron accumulation type2B
C3554374	MedGen UID:767288	Dystonia 24	http://www.ncbi.nlm.nih.gov/medgen/767288	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014019	http://purl.obolibrary.org/obo/MONDO_0014019	NANDO:1201143	DYT24 ジストニア	DYT24 Dystonia
C4225336	MedGen UID:907580	Dystonia 27	http://www.ncbi.nlm.nih.gov/medgen/907580	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014627	http://purl.obolibrary.org/obo/MONDO_0014627	NANDO:1201146	DYT27 ジストニア	DYT27 Dystonia
C4225341	MedGen UID:904244	Myoclonic dystonia 26	http://www.ncbi.nlm.nih.gov/medgen/904244	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014620	http://purl.obolibrary.org/obo/MONDO_0014620	NANDO:1201145	DYT26 ジストニア	DYT26 Dystonia
C4014419	MedGen UID:862856	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	http://www.ncbi.nlm.nih.gov/medgen/862856	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014358	http://purl.obolibrary.org/obo/MONDO_0014358	NANDO:2201524	シア・ギブス症候群	Xia-Gibbs syndrome
C4014722	MedGen UID:863159	STING-associated vasculopathy with onset in infancy	http://www.ncbi.nlm.nih.gov/medgen/863159	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014405	http://purl.obolibrary.org/obo/MONDO_0014405	NANDO:1201110	乳児発症 STING 関連血管炎	STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy
C4014722	MedGen UID:863159	STING-associated vasculopathy with onset in infancy	http://www.ncbi.nlm.nih.gov/medgen/863159	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014405	http://purl.obolibrary.org/obo/MONDO_0014405	NANDO:2201487	乳児発症ＳＴＩＮＧ関連血管炎	STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy
C5575066	MedGen UID:1807366	Schaaf-Yang syndrome	http://www.ncbi.nlm.nih.gov/medgen/1807366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014243	http://purl.obolibrary.org/obo/MONDO_0014243	NANDO:2201525	シャーフ・ヤング症候群	Schaaf-Yang syndrome
C4304670	MedGen UID:930339	Dystonia 25	http://www.ncbi.nlm.nih.gov/medgen/930339	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014033	http://purl.obolibrary.org/obo/MONDO_0014033	NANDO:1201144	DYT25 ジストニア	DYT25 Dystonia
C4517377	MedGen UID:1387791	Neurodegeneration with brain iron accumulation 6	http://www.ncbi.nlm.nih.gov/medgen/1387791	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014290	http://purl.obolibrary.org/obo/MONDO_0014290	NANDO:1201151	脳内鉄沈着神経変性症6型	Neurodegeneration with brain iron accumulation type6
CN924912	MedGen UID:1564287	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	http://www.ncbi.nlm.nih.gov/medgen/1564287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014512	http://purl.obolibrary.org/obo/MONDO_0014512	NANDO:1201108	PURA関連神経発達異常症	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
C5203410	MedGen UID:1684753	Rothmund-Thomson syndrome type 2	http://www.ncbi.nlm.nih.gov/medgen/1684753	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016369	http://purl.obolibrary.org/obo/MONDO_0016369	NANDO:2201529	ロスムンド・トムソン症候群 type2	Rothmund-Thomson syndrome type2
C5231433	MedGen UID:1684764	Rothmund-Thomson syndrome type 1	http://www.ncbi.nlm.nih.gov/medgen/1684764	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016368	http://purl.obolibrary.org/obo/MONDO_0016368	NANDO:2201528	ロスムンド・トムソン症候群 type1	Rothmund-Thomson syndrome type1
C4310633	MedGen UID:934600	Dystonia 28, childhood-onset	http://www.ncbi.nlm.nih.gov/medgen/934600	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015004	http://purl.obolibrary.org/obo/MONDO_0015004	NANDO:1201147	DYT28 ジストニア	DYT28 Dystonia
C4310634	MedGen UID:934601	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	http://www.ncbi.nlm.nih.gov/medgen/934601	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015003	http://purl.obolibrary.org/obo/MONDO_0015003	NANDO:1201148	DYT29 ジストニア	DYT29 Dystonia
C5679845	MedGen UID:1842484	Apolipoprotein A-II amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/1842484	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016533	http://purl.obolibrary.org/obo/MONDO_0016533	NANDO:1201125	遺伝性アポリポ蛋白 A-II アミロイドーシス	Hereditary apolipoprotein A-II amyloidosis
CN305473	MedGen UID:987242	Peroxisomal single enzyme/protein defect	http://www.ncbi.nlm.nih.gov/medgen/987242	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100257	http://purl.obolibrary.org/obo/MONDO_0100257	NANDO:1201169	ペルオキシソーム単独欠損症	single peroxisomal enzyme deficiency
C5204115	MedGen UID:1684787	AH amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/1684787	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018613	http://purl.obolibrary.org/obo/MONDO_0018613	NANDO:1201122	AH アミロイド－シス 	AH amyloidosis
C5438812	MedGen UID:1726699	Pfeiffer syndrome type 1	http://www.ncbi.nlm.nih.gov/medgen/1726699	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019659	http://purl.obolibrary.org/obo/MONDO_0019659	NANDO:1201160	ファイファー症候群1型	Pfeiffer syndrome type 1
C5438849	MedGen UID:1761826	Pfeiffer syndrome type 2	http://www.ncbi.nlm.nih.gov/medgen/1761826	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019660	http://purl.obolibrary.org/obo/MONDO_0019660	NANDO:1201161	ファイファー症候群2型	Pfeiffer syndrome type 2
C5438850	MedGen UID:1748161	Pfeiffer syndrome type 3	http://www.ncbi.nlm.nih.gov/medgen/1748161	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019661	http://purl.obolibrary.org/obo/MONDO_0019661	NANDO:1201162	ファイファー症候群3型	Pfeiffer syndrome type 3
C0751038	MedGen UID:155487	Cockayne syndrome type 2	http://www.ncbi.nlm.nih.gov/medgen/155487	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019570	http://purl.obolibrary.org/obo/MONDO_0019570	NANDO:1201164	コケイン症候群II型	Cockayne syndrome type 2
C0751039	MedGen UID:155488	Cockayne syndrome type 1	http://www.ncbi.nlm.nih.gov/medgen/155488	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019569	http://purl.obolibrary.org/obo/MONDO_0019569	NANDO:1201163	コケイン症候群I型	Cockayne syndrome type 1
C5680100	MedGen UID:1826070	MYO5B-related progressive familial intrahepatic cholestasis	http://www.ncbi.nlm.nih.gov/medgen/1826070	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018804	http://purl.obolibrary.org/obo/MONDO_0018804	NANDO:1201174	進行性家族性肝内胆汁うっ滞症　その他の型	Progressive Familial Intrahepatic Cholestasis, other types
C4749399	MedGen UID:1649806	Secondary syringomyelia	http://www.ncbi.nlm.nih.gov/medgen/1649806	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020509	http://purl.obolibrary.org/obo/MONDO_0020509	NANDO:2201533	続発性脊髄空洞症	secondary syringomyelia
C5543312	MedGen UID:1785079	Dystonia 30	http://www.ncbi.nlm.nih.gov/medgen/1785079	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0025691	http://purl.obolibrary.org/obo/MONDO_0025691	NANDO:1201149	DYT30 ジストニア	DYT30 Dystonia