ZFIN Human Disease: autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques

OBO ID: DOID:0112013

Term Name:	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques		Search Ontology:
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:	OMIM:614594
Ontology:	Human Disease ( DOID:0112013 )

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TRPV3		Olmsted syndrome 1

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None