Autosomal Domit Keratitis-Ichthyosis-Deafness Syndrome
Disease ID: disease_node_20156
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| Dbxref | ICD10CM:Q80.8, MIM:148210, ORDO:477 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | autosomal dominant KID syndrome |
| Doid Label | autosomal domit keratitis-ichthyosis-deafness syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20156 |
| Doid Id | DOID_0060871 |
| Label | Autosomal Domit Keratitis-Ichthyosis-Deafness Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)