Beare-Stevenson cutis gyrata syndrome
Information
- Disease name
- Beare-Stevenson cutis gyrata syndrome
- Disease ID
- DOID:0050660
- Description
- "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." [url:https\://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:332
- Cross Reference ID (Disease Ontology)
- MIM:123790