| Metadata | |
|---|---|
| ID | DOID:0060871 |
| Name | autosomal dominant keratitis-ichthyosis-deafness 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. https://www.ncbi.nlm.nih.gov/pubmed/11912510, https://www.ncbi.nlm.nih.gov/pubmed/3579358, https://www.ncbi.nlm.nih.gov/pubmed/11918723 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant KID syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |