congenital generalized lipodystrophy type 3 Disease Ontology Browser

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Disease Ontology Browser

congenital generalized lipodystrophy type 3 (DOID:0111137)
Alliance: disease page
Synonyms: Berardinelli-Seip congenital lipodystrophy type 3
Alt IDs: OMIM:612526, ICD10CM:E88.1
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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