OBO ID: DOID:0111137
Term Name: congenital generalized lipodystrophy type 3 Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/18237401
References:
Ontology: Human Disease   (DOID:0111137)
OTHER congenital generalized lipodystrophy type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CAV1 ?Lipodystrophy, congenital generalized, type 3 612526
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None