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Metadata
ID DOID:0111138
Name congenital generalized lipodystrophy type 4
Definition A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.
https://www.ncbi.nlm.nih.gov/pubmed/19726876
Xrefs

GARD:10937

ICD10CM:E88.1

MIM:613327

ORDO:228429

Subsets

DO_rare_slim

Synonyms

Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy [EXACT]

congenital generalised lipodystrophy type 4 [EXACT]

generalised congenital lipodystrophy type 4 [EXACT]

generalised congenital lipodystrophy with myopathy [EXACT]

generalized congenital lipodystrophy type 4 [EXACT]

generalized congenital lipodystrophy with myopathy [EXACT]

Parent Relationships

is_a congenital generalized lipodystrophy

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