Metadata | |
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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 | |
Synonyms |
Berardinelli-Seip congenital lipodystrophy type 3 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |