Familial Partial Lipodystrophy Type 4
Disease ID: disease_node_20142
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| Dbxref | GARD:12601, MIM:613877, ORDO:280356 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050440 |
| Data Source | DOID |
| Synonyms | FPLD4, PLIN1-related FPLD, PLIN1-related familial partial lipodystrophy, familial partial lipodystrophy associated with PLIN1 mutations |
| Disease Has Location | UBERON_0001013 |
| Doid Label | familial partial lipodystrophy type 4 |
| Doid Description | A familial partial lipodystrophy characterized by autosomal domit inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20142 |
| Doid Id | DOID_0070205 |
| Label | Familial Partial Lipodystrophy Type 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)