Crouzon syndrome-acanthosis nigricans syndrome
Information
- Disease name
- Crouzon syndrome-acanthosis nigricans syndrome
- Disease ID
- DOID:0111161
- Description
- "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." [url:https\://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans, url:https\://www.ncbi.nlm.nih.gov/pubmed/2650599, url:https\://www.ncbi.nlm.nih.gov/pubmed/7493034]
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)
- MIM:612247
- Cross Reference ID (Disease Ontology)
- ORDO:93262
- Exact Synonym (Disease Ontology)
- CAN
- Exact Synonym (Disease Ontology)
- Crouzon-dermoskeletal syndrome
- Exact Synonym (Disease Ontology)
- Crouzonodermoskeletal syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 93262