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Metadata
ID DOID:0111137
Name congenital generalized 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
Xrefs

ICD10CM:E88.1

OMIM:612526

Synonyms

Berardinelli-Seip congenital lipodystrophy type 3 [EXACT]

Parent Relationships

is_a congenital generalized lipodystrophy

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