OBO ID: DOID:0111136
Term Name: congenital generalized lipodystrophy type 2 Search Ontology:
Synonyms:
  • Berardinelli-Seip congenital lipodystrophy type 2
  • Berardinelli-Seip syndrome
  • Brunzell syndrome BSCL2-related
  • CGL2
  • congenital lipoatrophic diabetes
  • total lipodystrophy and acromegaloid gigantism
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. https://www.ncbi.nlm.nih.gov/pubmed/11479539
References:
Ontology: Human Disease   ( DOID:0111136 )
Relationships
is a type of:
inverse disjoint_from:
OTHER congenital generalized lipodystrophy type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BSCL2 Lipodystrophy, congenital generalized, type 2 269700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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