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autosomal dominant keratitis-ichthyosis-deafness syndrome (DOID:0060871)
Alliance: disease page
Synonyms: autosomal dominant KID syndrome
Alt IDs: OMIM:148210, ICD10CM:Q80.8, ORDO:477
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.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory