DisGeNET - a database of gene-disease associations

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Variant

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Semantic type

Disease Class

Type

HPO Term

DO Class

CUI	Disease	Type	Disease Class	Semantic type	DO Class	HPO Term	Num. genes
C4319565	Microcephalic osteodysplastic primordial dwarfism types I and III	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases	Congenital Abnormality	genetic disease; disease of anatomical entity		1