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
C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases	Disease or Syndrome	genetic disease; disease of metabolism		36	12