palmoplantar keratoderma-deafness syndrome
Information
- Disease name
- palmoplantar keratoderma-deafness syndrome
- Disease ID
- DOID:0111505
- Description
- "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10633135, url:https\://www.ncbi.nlm.nih.gov/pubmed/1532426]
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:3094
- Cross Reference ID (Disease Ontology)
- MESH:C536152
- Cross Reference ID (Disease Ontology)
- MIM:148350
- Cross Reference ID (Disease Ontology)
- ORDO:2202
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:722203001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1835672
- Exact Synonym (Disease Ontology)
- keratoderma palmoplantar deafness
- Exact Synonym (Disease Ontology)
- palmoplantar hyperkeratosis-deafness syndrome
- Exact Synonym (Disease Ontology)
- palmoplantar hyperkeratosis-hearing loss syndrome
- Exact Synonym (Disease Ontology)
- palmoplantar keratoderma with deafness
- Exact Synonym (Disease Ontology)
- palmoplantar keratoderma-hearing loss syndrome
- Exact Synonym (Disease Ontology)
- PPK-deafness syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 2202