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DO Term : palmoplantar keratoderma-deafness syndrome [DOID:0111505] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • UMLS_CUI:C1835672,
  • palmoplantar hyperkeratosis-hearing loss syndrome,
  • SNOMEDCT_US_2023_03_01:722203001,
  • ORDO:2202,
  • palmoplantar keratoderma with deafness,
  • palmoplantar hyperkeratosis-deafness syndrome,
  • OMIM:148350,
  • keratoderma palmoplantar deafness,
  • 148350,
  • GARD:3094,
  • MESH:C536152,
  • palmoplantar keratoderma-hearing loss syndrome,
  • PPK-deafness syndrome
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