Congenital Generalized Lipodystrophy Type 3
Disease ID: disease_node_20150
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| Dbxref | ICD10CM:E88.1, MIM:612526 |
|---|---|
| Subclassof | DOID_0050585 |
| Data Source | DOID |
| Synonyms | Berardinelli-Seip congenital lipodystrophy type 3 |
| Doid Label | congenital generalized lipodystrophy type 3 |
| Doid Description | A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. |
| Disease Node Id | disease_node_20150 |
| Doid Id | DOID_0111137 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Generalized Lipodystrophy Type 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Generalized Lipodystrophy(ID:disease_node_20148) (Disease)