Search Ontology:
Human Disease
palmoplantar keratoderma-deafness syndrome
- Term ID
- DOID:0111505
- Synonyms
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- keratoderma palmoplantar deafness
- palmoplantar hyperkeratosis-deafness syndrome
- palmoplantar hyperkeratosis-hearing loss syndrome
- palmoplantar keratoderma with deafness
- palmoplantar keratoderma-hearing loss syndrome
- PPK-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. (2)
- References
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- GARD:3094
- MESH:C536152
- MIM:148350
- ORDO:2202
- SNOMEDCT_US_2023_03_01:722203001
- UMLS_CUI:C1835672
- Ontology
- Human Disease ( DOID:0111505 )
- is a type of
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