About: Waardenburg syndrome type 1

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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
owl:sameAs	Waardenburg syndrome type 1
description	human disease (en) Krankheit (de) malattia (it) մարդու հիվանդություն (hy) maladie rare (fr) хвороба людини (uk)
exact match	wds:Q3508711-482E6F2B-34A3-44D3-830C-7073E4EDC89A wds:Q3508711-4E45DB34-1A68-4311-ACFE-122D951C57A9 wds:Q3508711-91AFD1E0-0B9C-41A2-B725-56218F2F4BA4
exact match	http://www.orpha.net/ORDO/Orphanet_894 http://purl.obolibrary.org/obo/DOID_0110948 http://identifiers.org/doid/DOID:0110948
Mondo ID	wds:Q3508711-DA45B143-7C8C-4521-BDB7-9E340FEA1F6A
DiseasesDB	wds:Q3508711-37b9db36-49fd-0145-2ef8-8f01d29932a7
Disease Ontology ID	wds:Q3508711-528BA763-53ED-48E7-8F55-D2CFCB7AEAB9
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008670
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110948
Mondo ID	MONDO_0008670
DiseasesDB	14021
Disease Ontology ID	DOID:0110948
rdfs:label	Waardenburg syndrome type 1 (en) syndrome de Waardenburg type 1 (fr)
skos:prefLabel	Waardenburg syndrome type 1 (en) syndrome de Waardenburg type 1 (fr)
name	Waardenburg syndrome type 1 (en) syndrome de Waardenburg type 1 (fr)
instance of	wds:Q3508711-709130A1-B9A8-463F-BFE8-058FDA4833B0
instance of	class of disease
subclass of	wds:Q3508711-36435027-4fb3-52b1-e63d-607c26fbb347
subclass of	Waardenburg's syndrome
Google Knowledge Graph ID	wds:Q3508711-B596DEBA-407A-4EEF-AB22-8E684143F18F
Google Knowledge Graph ID	http://g.co/kg/g/122hplq6
Google Knowledge Graph ID	/g/122hplq6
UniProt disease ID	wds:Q3508711-52d55d54-475f-a741-df80-51205106c716
Orphanet ID	wds:Q3508711-883dee56-469d-7290-d983-f15c6d914230
GARD rare disease ID	wds:Q3508711-39D80972-CD68-4499-8934-BDED036B1ED5
OMIM ID	wds:Q3508711-c284c302-4935-cee4-43bb-0518f9007673
UniProt disease ID	DI-01133
Orphanet ID	894
GARD rare disease ID	5519
OMIM ID	193500
skos:altLabel	WS1 (en) WS1 (fr) Syndrome de waardenburg type 1 (fr) Waardenburg Syndrome Type 1 (en) Waardenburg syndrome type I (en) Waardenburg syndrome with dystopia canthorum (en)
NCI Thesaurus ID	wds:Q3508711-2AEE25E3-9390-44B8-9F31-300324270BAD
UMLS CUI	wds:Q3508711-FB9F0501-D5BF-4D48-8CBA-86F3F26BDB68
on focus list of Wikimedia project	wds:Q3508711-3BDB0043-0AF8-4379-A09F-E65750A16008
ICD-11 (foundation)	wds:Q3508711-B05032EB-6B3C-4050-BA61-640066D93426
NCI Thesaurus ID	C75008
UMLS CUI	C1847800
on focus list of Wikimedia project	WikiProject Medicine
ICD-11 (foundation)	547536187
WikiProjectMed ID	wds:Q3508711-2CB830A3-38D6-4FC3-98DD-2FD1EB399576
WikiProjectMed ID	Waardenburg Syndrome Type 1
is owl:sameAs of	Waardenburg syndrome type 1
is about of	Waardenburg syndrome type 1 https://www.wikidata.org/wiki/Special:EntityData/Q3508711 Waardenburg syndrome type 1 https://fr.wikipedia.org/wiki/Syndrome_de_Waardenburg_type_1
is main subject of	A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2 A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1) Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1 Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1 Waardenburg Syndrome type 1: A case report The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1) Multicystic dysplastic kidney associated with Waardenburg syndrome type 1 Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1 A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1 WAARDENBURG SYNDROME TYPE 1 AND A RARE FINDING OF ANAL ATRESIA A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report Multiple hyperpigmented patches in Waardenburg syndrome type 1: An unusual presentation
is main subject of	wds:Q28207993-0F443FE8-3D17-4AB0-AFCF-D519ED351E11 wds:Q82783615-29B82AC3-8753-409E-B31C-AE832FC796E7 wds:Q24672431-53DC77DB-A335-46DC-8200-C91601353308 wds:Q73149787-F1180141-CD84-4EEE-A1E5-D242E72187DE wds:Q70708772-61FC35DF-1947-44C8-93EF-025D7A144D1C wds:Q74075905-69898A95-BC50-44F6-850C-4E196A428F61 wds:Q91586543-DB674346-039A-46D4-85B5-281530C299BD wds:Q95549190-864D177C-56E2-4D4A-8A9F-07406372D8E5 wds:Q58825131-BF3605DC-738B-4877-8E88-9B45ADF1E05D wds:Q33678917-8F3CF96D-F16B-48E9-A584-2AA5E37C5B6C wds:Q72449502-C6904B93-77E5-4072-A15A-546624203E58 wds:Q46705305-D3995E7C-BF3F-4BD9-95D0-4685AD2A1CDC wds:Q57474740-75A48726-DFB0-468E-A718-890B4DE17CC6 wds:Q33980620-DE23875D-EA30-4D2F-AC3B-0A90326291C0 wds:Q72658346-AC7E0C1F-DF5B-4BDC-BF58-11F392144287 wds:Q73033685-21A2A541-3206-4845-8711-85C1BCA9697E
is established from medical condition of	ZZUPMCi001-A CSUXHi004-A
is established from medical condition of	wds:Q110434452-E3E2E076-90D2-4028-BD25-D0E8345D592F wds:Q105506721-9557119A-F3CF-42BE-8F2A-99414654C5E3

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