craniofacial-deafness-hand syndrome
Information
- Disease name
- craniofacial-deafness-hand syndrome
- Disease ID
- DOID:0111336
- Description
- "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6859126, url:https\://www.ncbi.nlm.nih.gov/pubmed/8664898]
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:1571
- Cross Reference ID (Disease Ontology)
- MESH:C536453
- Cross Reference ID (Disease Ontology)
- MIM:122880
- Cross Reference ID (Disease Ontology)
- ORDO:1529
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:702362004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1852510
- Exact Synonym (Disease Ontology)
- CDHS
- Exact Synonym (Disease Ontology)
- Sommer-Young-Wee-Frye syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 1529