Congenital Generalized Lipodystrophy Type 2
Disease ID: disease_node_20151
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| Dbxref | GARD:10212, ICD10CM:E88.1, MIM:269700 |
|---|---|
| Subclassof | DOID_0050585 |
| Data Source | DOID |
| Synonyms | Berardinelli-Seip congenital lipodystrophy type 2, Berardinelli-Seip syndrome, Brunzell syndrome BSCL2-related, CGL2, congenital lipoatrophic diabetes, total lipodystrophy and acromegaloid gigantism |
| Doid Label | congenital generalized lipodystrophy type 2 |
| Doid Description | A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. |
| Disease Node Id | disease_node_20151 |
| Doid Id | DOID_0111136 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Generalized Lipodystrophy Type 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Generalized Lipodystrophy(ID:disease_node_20148) (Disease)