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Ontology Browser

Term:
autosomal dominant keratitis-ichthyosis-deafness syndrome (DOID:0060871)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
autosomal dominant keratitis-ichthyosis-deafness syndrome  
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. (DO)
Ichthyosiform Erythroderma, Corneal Involvement, Deafness  

Synonyms
Exact Synonyms: KID syndrome ;   autosomal dominant KID syndrome ;   keratitis, ichthyosis, and deafness (KID) syndrome
Primary IDs: MESH:C536168
Alternate IDs: OMIM:148210
Xrefs: ICD10CM:Q80.8 ;   ORDO:477
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11912510 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11918723 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3579358 "DO"

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