ZFIN Human Disease: autosomal dominant keratitis-ichthyosis-deafness syndrome

OBO ID: DOID:0060871

Term Name:	autosomal dominant keratitis-ichthyosis-deafness syndrome		Search Ontology:
Synonyms:	autosomal dominant KID syndrome
Definition:	A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. (3)
References:	ICD10CM:Q80.8 OMIM:148210 ORDO:477
Ontology:	Human Disease ( DOID:0060871 )

Relationships

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

OTHER autosomal dominant keratitis-ichthyosis-deafness syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GJB2	gjb8	Keratitis-ichthyosis-deafness syndrome	148210
GJB6	gjb8	Keratitis-ichthyosis-deafness syndrome	148210

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None