Metadata | |
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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 |
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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] |
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