Search Ontology:
Human Disease

palmoplantar keratoderma-deafness syndrome

Term ID
DOID:0111505
Synonyms
  • keratoderma palmoplantar deafness
  • palmoplantar hyperkeratosis-deafness syndrome
  • palmoplantar hyperkeratosis-hearing loss syndrome
  • palmoplantar keratoderma with deafness
  • palmoplantar keratoderma-hearing loss syndrome
  • PPK-deafness syndrome
(all 6)
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
(all 6)
Ontology
Human Disease   ( DOID:0111505 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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