congenital generalized lipodystrophy type 2
Information
- Disease name
- congenital generalized lipodystrophy type 2
- Disease ID
- DOID:0111136
- Description
- "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11479539]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050585
- Cross Reference ID (Disease Ontology)
- GARD:10212
- Cross Reference ID (Disease Ontology)
- ICD10CM:E88.1
- Cross Reference ID (Disease Ontology)
- MIM:269700
- Exact Synonym (Disease Ontology)
- Berardinelli-Seip congenital lipodystrophy type 2
- Exact Synonym (Disease Ontology)
- Berardinelli-Seip syndrome
- Exact Synonym (Disease Ontology)
- Brunzell syndrome BSCL2-related
- Exact Synonym (Disease Ontology)
- CGL2
- Exact Synonym (Disease Ontology)
- congenital lipoatrophic diabetes
- Exact Synonym (Disease Ontology)
- total lipodystrophy and acromegaloid gigantism