Search Ontology:
Human Disease
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
- Term ID
- DOID:0112013
- Synonyms
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- autosomal dominant Olmsted syndrome
- OLMS1
- Olmsted syndrome 1
- Definition
- A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (2)
- References
- Ontology
- Human Disease ( DOID:0112013 )
- is a type of
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Genes Involved
Zebrafish Models