DisGeNET - a database of gene-disease associations

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DO Class

CUI	Disease	Type	Disease Class	Semantic type	DO Class	HPO Term	Num. genes
C1866174	Phosphoglycerate Dehydrogenase Deficiency	disease	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms	Disease or Syndrome	genetic disease; disease of metabolism		1