DisGeNET - a database of gene-disease associations

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Type

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DO Class

CUI	Disease	Type	Disease Class	Semantic type	DO Class	HPO Term	Num. genes	Num. SNPs
C1865285	Megalencephaly cutis marmorata telangiectatica congenita	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases	Disease or Syndrome			18	18