About: Olmsted syndrome

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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:Q7088441-0151780F-847B-4F8B-8399-13CCDEEDD251 wds:Q7088441-0BD4E652-47E8-42D8-B056-3A7AE782A8B5 wds:Q7088441-DFD26D68-7270-4D6A-A8AB-EF5B57A4791A
exact match	http://www.orpha.net/ORDO/Orphanet_659 http://purl.obolibrary.org/obo/DOID_0112011 http://identifiers.org/doid/DOID:0112011
Mondo ID	wds:Q7088441-38C36A18-7A25-44DA-AC87-CC5DE0C0C2A7
DiseasesDB	wds:q7088441-62485187-68ED-4838-8039-62F4E3D38748
Disease Ontology ID	wds:Q7088441-5C08A6A5-54D3-4C94-958E-3EAADDEA202F
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0019014
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0112011
Mondo ID	MONDO_0019014
DiseasesDB	32827
Disease Ontology ID	DOID:0112011
rdfs:label	Olmsted syndrome (en) オルムステッド症候群 (ja) Olmsted-Syndrom (de) syndrome d'Olmsted (fr)
skos:prefLabel	Olmsted syndrome (en) オルムステッド症候群 (ja) Olmsted-Syndrom (de) syndrome d'Olmsted (fr)
name	Olmsted syndrome (en) オルムステッド症候群 (ja) Olmsted-Syndrom (de) syndrome d'Olmsted (fr)
instance of	wds:Q7088441-4C86B1EF-AC89-4543-A17C-3B253959808D wds:Q7088441-6985FC60-1197-4B12-8ADF-FEE1A2ACA801
instance of	class of disease rare disease
subclass of	wds:Q7088441-082481d5-40a7-13be-66c0-9f450e524e1e wds:Q7088441-0EFABEE5-E93A-4547-A03B-11EE026C23B5
subclass of	keratosis palmoplantar keratosis
Orphanet ID	wds:Q7088441-0B96325E-ABCB-4380-B74E-2F9AC8803175 wds:Q7088441-1bce3c6f-43db-9301-5f6a-55bf20e0fb08
genetic association	wds:Q7088441-893EEC47-438A-4DB3-8184-5FD11EA6D10A wds:Q7088441-C18D25AA-9743-410B-AD7F-B0BA7ABF9AC0
ICD-10-CM	wds:Q7088441-D25AA566-C024-4A04-96A0-4C2EEC49BD2C
GARD rare disease ID	wds:Q7088441-54B8F759-A305-43C8-BDB6-AC41DBD6351F
Orphanet ID	659
genetic association	TRPV3 MBTPS2
ICD-10-CM	Q82.8
GARD rare disease ID	4075
skos:altLabel	Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques (en) Palmoplantar and periorificial keratoderma (en) Palmoplantare und periorifizielle Keratosen (de) mutilating palmoplantar keratoderma with periorificial keratotic plaques (en) kératodermie palmoplantaire mutilante avec plaques kératosiques péri-orificielles (fr) Mutilierende Palmoplantarkeratose mit periorifiziellen Hyperkeratosen (de) オルムステッド・シンドローム (ja)
UMLS CUI	wds:Q7088441-12642a84-4f2b-3960-4009-3af5d72509da wds:Q7088441-B1885985-2DB6-47A0-90DE-8AF8DD627D30 wds:Q7088441-b6977761-4bb2-5257-69f6-86a3d2f94d3e
UMLS CUI	C2609071 C0406761
is owl:sameAs of	Olmsted syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q7088441 Olmsted syndrome https://de.wikipedia.org/wiki/Olmsted-Syndrom
is subclass of of	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
is subclass of of	wds:Q102295502-32F65BC3-DDC1-4BED-8E22-F58355A55BA8 wds:Q102296585-064500B4-01E0-4E05-9154-809C0849B5B5
is main subject of	Olmsted syndrome: report of a new case Olmsted syndrome: report of a new case with unusual features. Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted's syndrome) Olmsted syndrome: report of two cases Olmsted syndrome in twins Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma Olmsted syndrome: a case report and review of literature Palmoplantar keratoderma and skin grafting: postsurgical long-term follow-up of two cases with Olmsted syndrome Olmsted syndrome: report of two new cases and literature review Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome Olmsted syndrome in an Iranian family: report of two new cases Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations Olmsted syndrome caused by a homozygous recessive mutation in TRPV3 Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? Olmsted syndrome: clinical, molecular and therapeutic aspects Olmsted syndrome: exploration of the immunological phenotype Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3 Olmsted syndrome—congenital palmoplantar and periorificial keratoderma Olmsted Syndrome in a Family Olmsted syndrome Olmsted syndrome with hypotrichosis Keratin expression in Olmsted syndrome What syndrome is this? Olmsted syndrome TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes Olmsted syndrome in three sisters in a family The Olmsted syndrome: mutilating palmoplantar and periorificial keratoderma Partial improvement of Olmsted syndrome with etretinate

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