camptodactyly-tall stature-scoliosis-hearing loss syndrome
Information
- Disease name
- camptodactyly-tall stature-scoliosis-hearing loss syndrome
- Disease ID
- DOID:0111160
- Description
- "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." [url:https\://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/17033969]
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)
- MESH:C537975
- Cross Reference ID (Disease Ontology)
- MIM:610474
- Cross Reference ID (Disease Ontology)
- ORDO:85164
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:720601000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1864852
- Exact Synonym (Disease Ontology)
- CATSHL syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 85164