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Metadata
ID DOID:0111135
Name congenital generalized lipodystrophy type 1
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
Xrefs

GARD:84

ICD10CM:E88.1

MIM:608594

Subsets

DO_rare_slim

Synonyms

Berardinelli-Seip Congenital Lipodystrophy, Type 1 [EXACT]

Brunzell syndrome AGPAT2-related [EXACT]

Parent Relationships

is_a congenital generalized lipodystrophy

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