About: Usher syndrome type 1C

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Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15

Attributes	Values
rdf:type	Item
description	Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15 (en)
exact match	wds:Q32143522-174ACDA5-D509-4337-AB3C-7D6F4D0C0CEF wds:Q32143522-7B56773A-64D7-4319-B85C-6A38E1A1661B wds:Q32143522-B939F1F0-6351-49B8-B9D4-95AC9F72C6D1 wds:Q32143522-F78BEC51-B4D3-4326-AA06-C72C501A1FDC
exact match	http://www.orpha.net/ORDO/Orphanet_231169 http://www.orpha.net/ORDO/Orphanet_886 http://purl.obolibrary.org/obo/DOID_0110830 http://identifiers.org/doid/DOID:0110830
Mondo ID	wds:Q32143522-E632DA62-B7A0-41E8-8AAA-9CEA87B27DDB
Disease Ontology ID	wds:Q32143522-CD8B58EB-2D1B-474F-8BCD-810AF7E23ECC
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010171
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110830
Mondo ID	MONDO_0010171
Disease Ontology ID	DOID:0110830
rdfs:label	Usher syndrome type 1C (en)
skos:prefLabel	Usher syndrome type 1C (en)
name	Usher syndrome type 1C (en)
instance of	wds:Q32143522-97557BA6-6196-40EB-90C7-7539D23F00F2 wds:Q32143522-B7FF38CA-B551-4AF8-A142-61EA0886753A
instance of	class of disease rare disease
subclass of	wds:Q32143522-41AFE41C-36CE-4FB8-A709-57FE20962C2C
subclass of	Usher syndrome type 1
UniProt disease ID	wds:Q32143522-f3989a75-477f-0262-30bd-c9fc7b9d3eb7
genetic association	wds:Q32143522-A74181C6-86FB-4746-91AD-49A94CA42768
ICD-10-CM	wds:Q32143522-86AF3499-18E7-4A6B-B211-3CA149F623B7
GARD rare disease ID	wds:Q32143522-01A83375-384D-47F1-A983-CF5B8A524915
OMIM ID	wds:Q32143522-409DC1EA-4AF8-4586-86D9-A6D7AE16DAFB wds:Q32143522-7774AF3E-FF94-42AE-969F-919535F2B0BB
UniProt disease ID	DI-01113
genetic association	USH1C
ICD-10-CM	H35.5
GARD rare disease ID	5437
OMIM ID	276904
skos:altLabel	USH1C (en) USHER SYNDROME, TYPE IC (en) USHER SYNDROME, TYPE IC; USH1C (en) Usher Syndrome, Type I, Acadian Variety (en) Usher syndrome type I Acadian variety (en) Usher syndrome type IC (en) Usher syndrome, Acadian variety (en) Usher syndrome, type 1C (en)
UMLS CUI	wds:Q32143522-A175CEA3-3DAE-46F4-8B8D-2BFE14C0EB7C
on focus list of Wikimedia project	wds:Q32143522-0B57D790-776B-4F47-ABB6-A13BA0C35EA1
UMLS CUI	C1848604
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q32143522
is main subject of	A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C Therapy strategies for Usher syndrome Type 1C in the retina Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.
is main subject of	wds:Q38199050-372A5B7D-053C-448B-9D6D-C3658021C19C wds:Q48016075-CDBB17EE-94D8-4C6A-8C77-98480AC67C2B wds:Q24290185-BDA834BF-D9FE-465A-AAA3-8BBCA12049E5 wds:Q71582228-49F94FE3-C3D2-40C2-B278-5380A8FA362D wds:Q55067605-D924A544-1B7F-441C-8DAA-A4DE4C5586FC
is genetic association of	USH1C
is genetic association of	wds:Q18035012-EF001FF4-5F17-4D59-B5BD-91298730D695

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