About: Usher syndrome type 1D

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Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22

Attributes	Values
rdf:type	Item
description	Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22 (en)
exact match	wds:Q32143535-3AC60AD2-4A7D-465B-B1EC-F6570FFDC7A5 wds:Q32143535-B2A251A5-7356-4FCC-BDFF-7BD561248552 wds:Q32143535-E4DFBC1E-7CAE-4091-A91E-73ECD3D9232A wds:Q32143535-E9DDD1CC-D649-42ED-88FA-FA1F0FBCAA95
exact match	http://www.orpha.net/ORDO/Orphanet_231169 http://www.orpha.net/ORDO/Orphanet_886 http://purl.obolibrary.org/obo/DOID_0110831 http://identifiers.org/doid/DOID:0110831
Mondo ID	wds:Q32143535-D6162BE1-B63B-4E65-8301-4E2D83689510
Disease Ontology ID	wds:Q32143535-2A8E7E48-B3A7-4805-B392-193D9CEA0BC8
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010984
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110831
Mondo ID	MONDO_0010984
Disease Ontology ID	DOID:0110831
rdfs:label	Usher syndrome type 1D (en)
skos:prefLabel	Usher syndrome type 1D (en)
name	Usher syndrome type 1D (en)
instance of	wds:Q32143535-C05A9261-2D67-4AEA-BE14-2C10334ECC3E wds:Q32143535-C9D32527-218D-47F0-A6C4-E40F2DA74041
instance of	class of disease rare disease
subclass of	wds:Q32143535-48A533F2-79A2-4F13-BC21-DF5F48CA9723 wds:Q32143535-6D272DD3-2B34-4347-B286-293FBECB1404
subclass of	Usher syndrome type 1 digenic disease
UniProt disease ID	wds:Q32143535-86b72c75-4881-2cf2-d480-377a91cc2feb
genetic association	wds:Q32143535-102292C6-FEB8-48D7-B6E7-861B5E790276 wds:Q32143535-CFC055BB-659B-42AF-AB0B-150D97C74EA0
ICD-10-CM	wds:Q32143535-87FD91B5-AC4C-45EA-B7A8-845B79779684
GARD rare disease ID	wds:Q32143535-6993B4A4-5E8C-4B78-A36E-9701CFF303B4
OMIM ID	wds:Q32143535-69D207FF-DEC2-443F-8484-82B00E450347 wds:Q32143535-D2519BAB-8F66-4A43-A745-E58E34BD4FDE
UniProt disease ID	DI-01114
genetic association	CDH23 PCDH15
ICD-10-CM	H35.5
GARD rare disease ID	5438
OMIM ID	601067
skos:altLabel	USH1D (en) USHER SYNDROME, TYPE ID (en) USHER SYNDROME, TYPE ID; USH1D (en) Ush1D/F, Cdh23/Pcdh15, Digenic (en) Usher Syndrome, Type Id/F, Cdh23/Pcdh15, Digenic (en) Usher syndrome type ID (en) Usher syndrome, type 1D (en)
UMLS CUI	wds:Q32143535-1AAD59C3-90A3-4D51-A033-003C9EC3627C wds:Q32143535-90D3D128-770F-4D47-B4B5-1E894CEC7821 wds:Q32143535-C9AC5C16-0FA5-4961-A867-6BA4CFFAC8A9
on focus list of Wikimedia project	wds:Q32143535-6010ABCD-51D7-4FD3-8E90-FEE84FBA583E
UMLS CUI	C1832845 C3152102 C3275872
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q32143535
is main subject of	Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D
is main subject of	wds:Q37346464-9A1777E7-9738-411E-9DFC-630E3600D84C wds:Q28589238-D07EE5B4-9E62-4522-A24F-5846396DADFC wds:Q24290695-B3BA30F7-8FFC-4EC8-83EF-D8CDEF4034DF
is genetic association of	CDH23 PCDH15
is genetic association of	wds:Q18045862-82118D82-5BD1-4AAF-8996-C0434D6A0E6F wds:Q18045544-66D4A6C7-2CA8-46BF-8DD5-CFB8F870384D

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