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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C536168
http://purl.bioontology.org/ontology/MESH/C536168
|
|---|---|
| Preferred Name | Keratitis, Ichthyosis, and Deafness (KID) Syndrome |
| Synonyms |
Kid Syndrome, Autosomal Dominant
KID syndrome
Keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Kid Syndrome, Autosomal Dominant
KID syndrome
Keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
|---|---|
| prefLabel | Keratitis, Ichthyosis, and Deafness (KID) Syndrome
|
| 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
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| type | |
| tui | T047
|
| HM |
D007634
D007057
D003638
|
| SC | 3
|
| TERMUI |
T738475
T738476
T800898
T738478
|
| TH |
OMIM (2013)
GHR (2014)
ORD (2010)
|
| MMR | 20150818
|
| notation | C536168
|
| Semantic type UMLS property | |
| cui | C0265336
|
| MeSH Frequency | 58
|
| DSC | 20100825
|
| Inverse of RB | 0
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| Mapped to | |
| MDA | 20100825
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