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| Term | palmoplantar keratoderma-deafness syndrome | ID (Ontology) | DOID:0111505 (Human Disease) |
| 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. | ||
| Also Known As | "keratoderma palmoplantar deafness" ; "palmoplantar hyperkeratosis-deafness syndrome" ; "palmoplantar hyperkeratosis-hearing loss syndrome" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| palmoplantar keratoderma-deafness syndrome |
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autosomal dominant disease syndrome |
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GARD:3094 MESH:C536152 MIM:148350 ORDO:2202 SNOMEDCT_US_2023_03_01:722203001 UMLS_CUI:C1835672 |
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