About: autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques

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About: autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk)
exact match	wds:Q102295502-580B0C8A-4008-4177-BBB2-E755FAA2C78C wds:Q102295502-BE5FD51E-DFA9-47E9-80AC-0D9D0892F076
exact match	http://purl.obolibrary.org/obo/DOID_0112013 http://identifiers.org/doid/DOID:0112013
Mondo ID	wds:Q102295502-64258E5D-649C-4F4C-834A-019273E7EB6F
Disease Ontology ID	wds:Q102295502-8DB16048-8EFA-478B-AD7D-1FE46C9E7A5A
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0100296
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0112013
Mondo ID	MONDO_0100296
Disease Ontology ID	DOID:0112013
rdfs:label	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques (en)
skos:prefLabel	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques (en)
name	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques (en)
instance of	wds:Q102295502-69BD3563-F82E-471C-AD4E-4226C3A642AA
instance of	class of disease
subclass of	wds:Q102295502-32F65BC3-DDC1-4BED-8E22-F58355A55BA8 wds:Q102295502-392D40A0-96E3-4965-AB4F-424A21BD44E6
subclass of	Olmsted syndrome autosomal dominant disease
UniProt disease ID	wds:Q102295502-c91d160e-4ebd-ddfd-d84d-341d9db8f6c9
genetic association	wds:Q102295502-46e9cd22-4d97-bc08-1468-0c2d3ff3e8b7
OMIM ID	wds:Q102295502-b9d8402c-4207-9ab8-f435-05b5115ee166
UniProt disease ID	DI-03430
genetic association	TRPV3
OMIM ID	614594
skos:altLabel	OLMS1 (en) Olmsted syndrome 1 (en) autosomal dominant Olmsted syndrome (en)
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q102295502

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