Lipodystrophy, Familial Partial
Disease ID: disease_node_11541
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| Dbxref | GARD:3126, MESH:D052496, MIM:151660, NCI:C165527, ORDO:2348, SNOMEDCT_US_2023_03_01:715439000, UMLS_CUI:C1720860 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050440 |
| Data Source | DOID, MESH |
| Synonyms | FPLD2, familial lipodystrophy of limbs and lower trunk, familial partial lipodystrophy Dunnigan type, reverse partial lipodystrophy |
| Mesh Id | D052496 |
| Mesh Label | Lipodystrophy, Familial Partial |
| Mesh Subclassof | D008052, D000083083, D008060 |
| Doid Label | familial partial lipodystrophy type 2 |
| Doid Description | A familial partial lipodystrophy characterized by autosomal domit inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_11541 |
| Doid Id | DOID_0070202 |
| Label | Lipodystrophy, Familial Partial |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)