About: Usher syndrome type 1

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Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa

Attributes	Values
rdf:type	Item
description	Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa (en) Usherjev sindrom, za katerega so značilni globoka kongenitalna gluhost, vestibularna disfunkcija in zgodnji razvoj pigmentnega retinitisa (sl)
exact match	wds:Q32143464-1473C2EC-F2F9-4B1E-A555-A539A7508F85 wds:Q32143464-1F81939C-39FC-433D-9CB9-9130AC4AB5CC wds:Q32143464-F37EA9D7-BF95-492F-83F4-C2F8167C8DF1
exact match	http://www.orpha.net/ORDO/Orphanet_231169 http://purl.obolibrary.org/obo/DOID_0110826 http://identifiers.org/doid/DOID:0110826
Disease Ontology ID	wds:Q32143464-2A2711C6-AE40-40C6-9E63-CE5596FED91D
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110826
Disease Ontology ID	DOID:0110826
rdfs:label	Usher syndrome type 1 (en) Usherjev sindrom tipa 1 (sl)
skos:prefLabel	Usher syndrome type 1 (en) Usherjev sindrom tipa 1 (sl)
name	Usher syndrome type 1 (en) Usherjev sindrom tipa 1 (sl)
instance of	wds:Q32143464-50179FD8-002F-40A8-B5BC-2AC00B402B28
instance of	class of disease
subclass of	wds:Q32143464-B0642495-2F09-4045-844C-2177A856C454
subclass of	Usher syndrome
Orphanet ID	wds:Q32143464-157B0E3F-30EB-475A-B6F5-6A71F1CF81CD
ICD-10-CM	wds:Q32143464-A07325C0-6512-4B2F-AEF4-0047613962EA
GARD rare disease ID	wds:Q32143464-4880E282-13C5-4D21-8097-A35B994A393D
OMIM ID	wds:Q32143464-ED8D41BA-5A16-4C61-BD41-96D094DCCAFF
Orphanet ID	231169
ICD-10-CM	H35.5
GARD rare disease ID	5435
OMIM ID	276900
skos:altLabel	US1 (en) US1 (sl) USH1 (en) USH1 (sl)
NCI Thesaurus ID	wds:Q32143464-f02b12c4-491d-e72c-ac44-6ad1a82a15c4
UMLS CUI	wds:Q32143464-C36572A9-48B7-4CFF-8F72-B5BFCACB5AE3
on focus list of Wikimedia project	wds:Q32143464-EC7360DC-D8EE-419D-97E9-2FA4E226762A
NCI Thesaurus ID	C126327
UMLS CUI	C0339533
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q32143464
is subclass of of	Usher syndrome type 1G Usher syndrome type 1J Usher syndrome type 1C Usher syndrome type 1D Usher syndrome type 1F Usher syndrome type 1E Usher syndrome type 1H Usher syndrome type 1K
is subclass of of	wds:Q32143604-D2E83FA6-7EA3-4869-899F-688493DF8E5F wds:Q32143548-9C6F73AD-A607-4740-B8D2-4BD8416108A0 wds:Q32143522-41AFE41C-36CE-4FB8-A709-57FE20962C2C wds:Q32143561-A02759E0-8C76-4784-AA94-4DBD0B7739F5 wds:Q32143535-6D272DD3-2B34-4347-B286-293FBECB1404 wds:Q32143575-F6AB985D-D09E-4D03-903A-BA9443DCF9B7 wds:Q32143588-8F60C2D1-B181-4895-9D1B-92146C1089A2 wds:Q32143616-626EF502-C6C1-41D1-B8AA-699F9742E684
is main subject of	Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2 Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing. Genetic heterogeneity of Usher syndrome type 1 in French families. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients Interactions in the network of Usher syndrome type 1 proteins Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C) Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1 Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1 Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2. An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation Usher syndrome type 1: early detection of electroretinographic changes Cognitive skills in children with Usher syndrome type 1 and cochlear implants. A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family. Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1 Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing Usher syndrome type 1: genotype-phenotype relationships Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1 Clinicopathologic reports, case reports, and small case series: usher syndrome type 1 associated with primary ciliary aplasia Early diagnosis of Usher Syndrome Type 1 now possible. A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1 Are Consanguineous Marriages to Blame for Usher Syndrome Type 1, a Rare Disease in Pakistan? Report on attempts to localize Usher syndrome type 1 by linkage analysis to selected candidate regions Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.
is main subject of	wds:Q28119203-0E8FC674-D68E-4DA7-A551-A3D592EE56F9 wds:Q33618805-E79A3115-6018-47E8-B3D7-A178D3F51BBD wds:Q37108023-06D90625-DD35-4760-8EDB-BD55EC292F3C wds:Q44460467-FCD4A881-01DC-492C-8D74-964B6B27A4FF wds:Q46248890-3D9BA6E0-8CED-4087-8071-5425C0D64C72 wds:Q50357934-49B27769-36EA-458D-B89E-EBCC581E2231 wds:Q50429836-0A7CCDAD-CFC4-4BC8-AD97-11CC8E4A91FD wds:Q50308139-CCB6AB7A-1A19-4D45-B9C3-0D56746BED02 wds:Q104571966-D332E2B4-7FA1-485C-B527-33BC9DE0B3D9 wds:Q36351421-165F75DA-F68A-41A9-A595-97718CB5CF47 wds:Q36969957-4162FE3B-2846-461B-9F13-5EC29F8754CB wds:Q35117928-60692205-E7FB-4F83-9468-A81AD5C5358B wds:Q50535483-53DA0B7E-6966-4838-AF9A-34B863C8D26E wds:Q97883676-984034E0-A71A-439F-B8EE-2F30412F9F50 wds:Q28593040-AC0BF1D9-112A-4B88-B284-8FACE8C684CE

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