Congenital Generalized Lipodystrophy Type 4
Disease ID: disease_node_20149
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| Dbxref | GARD:10937, ICD10CM:E88.1, MIM:613327, ORDO:228429 |
|---|---|
| Subclassof | DOID_0050585 |
| Data Source | DOID |
| Synonyms | Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy, congenital generalised lipodystrophy type 4, generalised congenital lipodystrophy type 4, generalised congenital lipodystrophy with myopathy, generalized congenital lipodystrophy type 4, generalized congenital lipodystrophy with myopathy |
| Doid Label | congenital generalized lipodystrophy type 4 |
| Doid Description | A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. |
| Disease Node Id | disease_node_20149 |
| Doid Id | DOID_0111138 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Generalized Lipodystrophy Type 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Generalized Lipodystrophy(ID:disease_node_20148) (Disease)