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Human Disease
autosomal dominant keratitis-ichthyosis-deafness syndrome
- Term ID
- DOID:0060871
- Synonyms
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- 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
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- ICD10CM:Q80.8
- MIM:148210
- ORDO:477
- Ontology
- Human Disease ( DOID:0060871 )
- is a type of
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Genes Involved
Zebrafish Models