loading...| Preferred Name |
Keratitis, Ichthyosis, and Deafness (KID) Syndrome |
| Synonyms |
Kid Syndrome, Autosomal Dominant |
| ID |
http://purl.bioontology.org/ontology/MESH/C536168 |
| altLabel |
Kid Syndrome, Autosomal Dominant Keratitis-ichthyosis-deafness syndrome, autosomal dominant KID syndrome |
| cui |
C0265336 |
| HM |
D007634 D007057 D003638 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D007057 |
| MDA |
20100825 |
| MeSH Frequency |
48 |
| MMR |
20150818 |
| notation |
C536168 |
| prefLabel |
Keratitis, Ichthyosis, and Deafness (KID) Syndrome |
| SC |
3 |
| Scope Statement |
A very rare, inherited,autosomal dominant multi-system disorder; fewer than 100 cases have ever been reported. It is characterized by keratitis, icthyosis (specifically erythrokeratoderma); and sensorineural deafness. The skin on the palms of the hands and soles of the feet as well as the nails may also be affected. Mutations in the GJB2 gene have been identified. OMIM: 148210 |
| TERMUI |
T738475 T800898 T738478 T738476 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/148210 | Online Mendelian Inheritance in Man | CUI | |
| http://purl.bioontology.org/ontology/OMIM/121011 | Online Mendelian Inheritance in Man | CUI |