DisGeNET - a database of gene-disease associations

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Semantic type

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Type

HPO Term

DO Class

CUI	Disease	Type	Disease Class	Semantic type	DO Class	HPO Term	Num. genes
C0685837	Pure Gonadal Dysgenesis, 46, XX	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases	Congenital Abnormality	disease of anatomical entity		8