Search Ontology:
Human Disease

congenital generalized lipodystrophy type 1

Term ID
DOID:0111135
Synonyms
  • Berardinelli-Seip Congenital Lipodystrophy, Type 1
  • Brunzell syndrome AGPAT2-related
Definition
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. https://www.ncbi.nlm.nih.gov/pubmed/11967537
References
Ontology
Human Disease   ( DOID:0111135 )
Relationships
is a type of
disjoint_from
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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