Search Ontology:
Human Disease

congenital generalized lipodystrophy type 3

Term ID
DOID:0111137
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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