Term Name: | congenital generalized lipodystrophy type 3 |
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Synonyms: | Berardinelli-Seip congenital lipodystrophy type 3 |
Definition: | A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. |
Ontology: | Human Disease [DOID:0111137] ( DOID:0111137 ) |