| Metadata | |
|---|---|
| ID | DOID:0111505 |
| Name | palmoplantar keratoderma-deafness syndrome |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/1532426, https://www.ncbi.nlm.nih.gov/pubmed/10633135 |
| Xrefs |
SNOMEDCT_US_2023_03_01:722203001 |
| Subsets |
DO_rare_slim |
| Synonyms |
keratoderma palmoplantar deafness [EXACT] palmoplantar hyperkeratosis-deafness syndrome [EXACT] palmoplantar hyperkeratosis-hearing loss syndrome [EXACT] palmoplantar keratoderma with deafness [EXACT] palmoplantar keratoderma-hearing loss syndrome [EXACT] PPK-deafness syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |