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Human Disease

autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques

Term ID
DOID:0112013
Synonyms
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models