Metadata | |
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ID | DOID:0070206 |
Name | familial partial lipodystrophy type 6 |
Definition | A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/24848981 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
familial partial lipodystrophy associated with LIPE mutations [EXACT] FPLD6 [EXACT] LIPE-related familial partial lipodystrophy [EXACT] LIPE-related FPLD [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |