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	Num. SNPs
C0392607	Severe combined immunodeficiency due to adenosine deaminase deficiency	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases	Disease or Syndrome	disease of anatomical entity		1	12