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lesion)" }, { "id": "C0206138", "id2": "MedGen UID:60083", "medgen_label": "CREST syndrome", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/60083", "property": "http://www.w3.org/2004/02/skos/core#closeMatch", "mondo_id": "MONDO:0019563", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0019563", "nando_id": "NANDO:1201011", "nando_label_je": "限局皮膚硬化型全身性強皮症", "nanado_label_en": "Limited cutaneous systemic sclerosis" }, { "id": "C0431375", "id2": "MedGen UID:98463", "medgen_label": "Classic lissencephaly", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/98463", "property": "http://www.w3.org/2004/02/skos/core#closeMatch", "mondo_id": "MONDO:0015146", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0015146", "nando_id": "NANDO:1201069", "nando_label_je": "厚脳回", "nanado_label_en": "Pachygyria" }, { "id": "C0431375", "id2": "MedGen UID:98463", "medgen_label": "Classic lissencephaly", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/98463", "property": 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"nando_id": "NANDO:1200841", "nando_label_je": "肝型糖原病Ib型", "nanado_label_en": "Hepatic glycogen storage disease type Ib" }, { "id": "C0023195", "id2": "MedGen UID:9698", "medgen_label": "Norum disease", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/9698", "property": "http://www.w3.org/2004/02/skos/core#closeMatch", "mondo_id": "MONDO:0009515", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0009515", "nando_id": "NANDO:1200852", "nando_label_je": "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", "nanado_label_en": "Lecithin cholesterol acyltransferase deficiency" }, { "id": "C0265836", "id2": "MedGen UID:539527", "medgen_label": "Congenital tricuspid stenosis", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/539527", "property": "http://www.w3.org/2004/02/skos/core#closeMatch", "mondo_id": "MONDO:0019813", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0019813", "nando_id": "NANDO:1200962", "nando_label_je": "先天性三尖弁狭窄症", "nanado_label_en": "Congenital tricuspid stenosis" }, { 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"MONDO:0007041", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0007041", "nando_id": "NANDO:2200844", "nando_label_je": "アペール症候群", "nanado_label_en": "Apert syndrome" }, { "id": "C0002878", "id2": "MedGen UID:1916", "medgen_label": "Hemolytic anemia", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/1916", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0003664", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0003664", "nando_id": "NANDO:2200636", "nando_label_je": "溶血性貧血（脾機能亢進症によるものに限る。）", "nanado_label_en": "Hemolytic anemia" }, { "id": "C0002888", "id2": "MedGen UID:1527", "medgen_label": "Megaloblastic anemia", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/1527", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0001700", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0001700", "nando_id": "NANDO:2200612", "nando_label_je": "巨赤芽球性貧血", "nanado_label_en": "Megaloblastic anemia" }, { "id": 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"mondo_id": "MONDO:0007042", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0007042", "nando_id": "NANDO:2200848", "nando_label_je": "Seather-Chotzen症候群", "nanado_label_en": "Saethre-Chotzen syndrome" }, { "id": "C0220988", "id2": "MedGen UID:450997", "medgen_label": "Xanthinuria", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/450997", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0000721", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0000721", "nando_id": "NANDO:2200588", "nando_label_je": "キサンチン尿症", "nanado_label_en": "Xanthinuria" }, { "id": "C0221023", "id2": "MedGen UID:65121", "medgen_label": "Cyclical neutropenia", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/65121", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0008090", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0008090", "nando_id": "NANDO:2200746", "nando_label_je": "周期性好中球減少症", "nanado_label_en": "Cyclic neutropenia" 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"http://purl.obolibrary.org/obo/MONDO_0019180", "nando_id": "NANDO:1200744", "nando_label_je": "オスラー病", "nanado_label_en": "Osler disease" }, { "id": "C0041207", "id2": "MedGen UID:52867", "medgen_label": "Persistent truncus arteriosus", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/52867", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0018072", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0018072", "nando_id": "NANDO:1200693", "nando_label_je": "総動脈幹遺残症", "nanado_label_en": "Truncus arteriosus communis" }, { "id": "C0043207", "id2": "MedGen UID:21923", "medgen_label": "Wolfram syndrome", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/21923", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0018105", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0018105", "nando_id": "NANDO:1200757", "nando_label_je": "ウォルフラム症候群", "nanado_label_en": "Wolfram syndrome" }, { "id": "C0078918", "id2": "MedGen UID:36250", "medgen_label": "Oculocutaneous albinism", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/36250", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0018910", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0018910", "nando_id": "NANDO:1200637", "nando_label_je": "眼皮膚白皮症", "nanado_label_en": "Oculocutaneous albinism" }, { "id": "C0282488", "id2": "MedGen UID:129176", "medgen_label": "Interstitial cystitis", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/129176", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0018301", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0018301", "nando_id": "NANDO:1200743", "nando_label_je": "間質性膀胱炎（ハンナ型）", "nanado_label_en": "Interstitial cystitis (Hunner type)" }, { "id": "C0282528", "id2": "MedGen UID:129185", "medgen_label": "Peroxisomal disorder", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/129185", "property": 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"http://purl.obolibrary.org/obo/MONDO_0015369", "nando_id": "NANDO:1200661", "nando_label_je": "ジュベール症候群関連疾患", "nanado_label_en": "Joubert syndrome and related disorders" }, { "id": "CN294181", "id2": "MedGen UID:977689", "medgen_label": "22q11.2 deletion syndrome", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/977689", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0018923", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0018923", "nando_id": "NANDO:1200688", "nando_label_je": "22q11.2欠失症候群", "nanado_label_en": "22q11.2 deletion syndrome" }, { "id": "CN304703", "id2": "MedGen UID:988496", "medgen_label": "Primary membranoproliferative glomerulonephritis", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/988496", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0018904", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0018904", "nando_id": "NANDO:1200725", "nando_label_je": "一次性膜性増殖性糸球体腎炎", 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"id": "C0039101", "id2": "MedGen UID:21050", "medgen_label": "Synovial sarcoma", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/21050", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0010434", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0010434", "nando_id": "NANDO:2200061", "nando_label_je": "滑膜肉腫", "nanado_label_en": "Synovial sarcoma" }, { "id": "C0279543", "id2": "MedGen UID:75993", "medgen_label": "Chronic myelogenous leukemia, BCR-ABL1 positive", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/75993", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0011996", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0011996", "nando_id": "NANDO:2200013", "nando_label_je": "慢性骨髄性白血病", "nanado_label_en": "Chronic myeloid leukemia" }, { "id": "C1864100", "id2": "MedGen UID:350343", "medgen_label": "Pseudohypoparathyroidism type 1B", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/350343", 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"mondolink": "http://purl.obolibrary.org/obo/MONDO_0011142", "nando_id": "NANDO:1201089", "nando_label_je": "筋拘縮型エーラス・ダンロス症候群", "nanado_label_en": "Musculocontractural Ehlers-Danlos syndrome" }, { "id": "C1869116", "id2": "MedGen UID:358271", "medgen_label": "Inherited susceptibility to asthma", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/358271", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0010940", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0010940", "nando_id": "NANDO:2200197", "nando_label_je": "気管支喘息", "nanado_label_en": "Bronchial asthma" }, { "id": "C0022541", "id2": "MedGen UID:9618", "medgen_label": "Kearns-Sayre syndrome", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/9618", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0010787", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0010787", "nando_id": "NANDO:1201064", "nando_label_je": "カーンズ・セイヤー症候群", "nanado_label_en": 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"http://purl.obolibrary.org/obo/MONDO_0019503", "nando_id": "NANDO:1201000", "nando_label_je": "前眼部形成異常", "nanado_label_en": "Anterior segment dysgenesis" }, { "id": "C3536983", "id2": "MedGen UID:760752", "medgen_label": "Vitamin D-dependent rickets, type 2", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/760752", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0019642", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0019642", "nando_id": "NANDO:1200783", "nando_label_je": "ビタミンD依存症2型", "nanado_label_en": "Vitamin D-dependent rickets, type 2" }, { "id": "C4273988", "id2": "MedGen UID:908684", "medgen_label": "Benign adult familial myoclonic epilepsy", "original_disease": "http://www.ncbi.nlm.nih.gov/medgen/908684", "property": "http://www.w3.org/2004/02/skos/core#exactMatch", "mondo_id": "MONDO:0019448", "mondolink": "http://purl.obolibrary.org/obo/MONDO_0019448", "nando_id": "NANDO:1200956", "nando_label_je": "良性成人型家族性ミオクローヌスてんかん", 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