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Human Disease

autosomal dominant keratitis-ichthyosis-deafness syndrome

Term ID
DOID:0060871
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
Ontology
Human Disease   ( DOID:0060871 )
Relationships
is a type of
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Genes Involved
Zebrafish Models