OBO ID: DOID:0111138
Term Name: congenital generalized lipodystrophy type 4 Search Ontology:
Synonyms:
  • Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
  • Brunzell syndrome AGPAT2-related
  • congenital generalised lipodystrophy type 4
  • generalised congenital lipodystrophy type 4
  • generalised congenital lipodystrophy with myopathy
  • generalized congenital lipodystrophy type 4
  • generalized congenital lipodystrophy with myopathy
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. https://www.ncbi.nlm.nih.gov/pubmed/19726876
References:
Ontology: Human Disease   ( DOID:0111138 )
OTHER congenital generalized lipodystrophy type 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CAVIN1 Lipodystrophy, congenital generalized, type 4 613327
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None