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Human Disease

congenital generalized lipodystrophy type 4

Term ID
DOID:0111138
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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