ZFIN Human Disease: palmoplantar keratoderma-deafness syndrome

OBO ID: DOID:0111505

Term Name:	palmoplantar keratoderma-deafness syndrome		Search Ontology:
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
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:	GARD:3094 MESH:C536152 OMIM:148350 ORDO:2202 SNOMEDCT_US_2023_03_01:722203001 UMLS_CUI:C1835672
Ontology:	Human Disease ( DOID:0111505 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER palmoplantar keratoderma-deafness syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GJB2	gjb8	Keratoderma, palmoplantar, with deafness	148350
GJB6	gjb8	Keratoderma, palmoplantar, with deafness	148350

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None