About: Usher syndrome type 1F

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Usher syndrome type 1 that has material basis in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q

Attributes	Values
rdf:type	Item
description	Usher syndrome type 1 that has material basis in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q (en)
exact match	wds:Q32143548-348746A9-D35F-40BD-A224-A1B770113008 wds:Q32143548-6162264C-3DF0-4E52-AD22-47771CC5BF5A wds:Q32143548-9DE4E50D-84E9-44A7-A904-723B0C47BD74 wds:Q32143548-CBDECB2C-5218-4DB0-8825-A9828F4556BC
exact match	http://www.orpha.net/ORDO/Orphanet_231169 http://www.orpha.net/ORDO/Orphanet_886 http://purl.obolibrary.org/obo/DOID_0110832 http://identifiers.org/doid/DOID:0110832
Mondo ID	wds:Q32143548-1C3BA46B-1024-4BB8-9126-1EE0359C2065
Disease Ontology ID	wds:Q32143548-B76DF303-9490-4616-8E5E-98526746EA0F
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011186
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110832
Mondo ID	MONDO_0011186
Disease Ontology ID	DOID:0110832
rdfs:label	Usher syndrome type 1F (en)
skos:prefLabel	Usher syndrome type 1F (en)
name	Usher syndrome type 1F (en)
instance of	wds:Q32143548-C74B4742-C884-463C-AFB6-788629B6A5EA wds:Q32143548-E0C55A27-99C9-474F-8D5A-3DDD8E88B11C
instance of	class of disease rare disease
subclass of	wds:Q32143548-9C6F73AD-A607-4740-B8D2-4BD8416108A0
subclass of	Usher syndrome type 1
UniProt disease ID	wds:Q32143548-6e462305-4014-6352-89a6-dea440c94534
genetic association	wds:Q32143548-0BB7D28D-66A5-4C27-87E1-12EC03A511FC
ICD-10-CM	wds:Q32143548-B437EABB-1B64-4915-A0AC-9463A8C8F988
GARD rare disease ID	wds:Q32143548-B1844009-E48C-46DB-8F82-7F723B8A4848
OMIM ID	wds:Q32143548-B223553D-36B0-4E84-9CE9-437846E80C9D wds:Q32143548-E6B53C11-73E2-41B7-82C8-8E71D1E5603A
UniProt disease ID	DI-01116
genetic association	PCDH15
ICD-10-CM	H35.5
GARD rare disease ID	10043
OMIM ID	602083
skos:altLabel	USH1F (en) USHER SYNDROME, TYPE IF (en) USHER SYNDROME, TYPE IF; USH1F (en) Usher syndrome type IF (en) Usher syndrome, type 1F (en)
UMLS CUI	wds:Q32143548-14002023-890D-47A8-A737-1D9C4B6FF476
on focus list of Wikimedia project	wds:Q32143548-4DB53677-7AA8-4AE5-9BF1-C8E41ECF288A
UMLS CUI	C1865885
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q32143548
is main subject of	Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
is main subject of	wds:Q24291312-550BED84-E1EF-4258-9335-9508D8EA041F wds:Q24291535-37DC89C0-F57B-4513-A284-D9BFE7FDFF84
is genetic association of	PCDH15
is genetic association of	wds:Q18045862-28D425EE-ED71-4019-B05F-A91EA8838A31

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