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rdfs:label
|
"Usher syndrome type 2C"@en
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|
skos:altLabel
|
"USH2C"@en
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|
"USHER SYNDROME, TYPE IIC"@en
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|
"USHER SYNDROME, TYPE IIC; USH2C"@en
|
|
"Usher Syndrome, Type Iib"@en
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|
"Usher Syndrome, Type Iib, Formerly"@en
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|
"Usher Syndrome, Type Iic, Gpr98/Pdzd7, Digenic"@en
|
|
"Usher syndrome type IIC"@en
|
|
"Usher syndrome, type 2C"@en
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|
schema:description
|
"Usher syndrome type 2 that has material basis in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14"@en
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|
schema:dateModified
|
"2024-02-25T23:51:05+00:00"^^xsd:dateTime
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schema:version
|
2087294707
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|
wikibase:identifiers
|
12
|
|
wikibase:sitelinks
|
0
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|
wikibase:statements
|
23
|
|
p:P11430
|
wd:statement/Q32143643-0fe3908d-41e0-679b-51ee-c269a0074303
|
|
p:P1748
|
wd:statement/Q32143643-1d7b7dc9-422d-1984-5af6-b7852a1a47a0
|
|
p:P2293
|
wd:statement/Q32143643-63115751-85FF-4DE0-8662-2E903ABD3D27
|
|
wd:statement/Q32143643-9681D272-35FF-4DF3-84C4-DF94D0C267FF
|
|
p:P279
|
wd:statement/Q32143643-2F1ADA7E-F655-4A1D-A6FC-7979E0C2AFFD
|
|
p:P2888
|
wd:statement/Q32143643-2DC1D0AD-0311-47B6-AFC4-18DCEDF9D0C3
|
|
wd:statement/Q32143643-61E580B6-BDBB-4FFA-9720-BD2EFA4302E7
|
|
wd:statement/Q32143643-9350AE70-76D6-4803-9474-56CEE7A8B65F
|
|
wd:statement/Q32143643-CFA2796C-6560-4031-ABC4-4E929890131C
|
|
p:P2892
|
wd:statement/Q32143643-169D6E11-2AF5-496E-A3F6-D8B61AF51EC1
|
|
wd:statement/Q32143643-5FD10777-A5B8-4030-A4E2-AD4764A71F98
|
|
wd:statement/Q32143643-7F57A28E-D939-41FE-8724-D61D8D740D26
|
|
wd:statement/Q32143643-D3C9D94F-EF49-4F5C-8533-55516A74585B
|
|
p:P31
|
wd:statement/Q32143643-04DDB61F-69F3-4CEA-BA06-297822306AA6
|
|
wd:statement/Q32143643-4218616F-ABA7-4CDC-AD9E-0108040037CA
|
|
p:P4229
|
wd:statement/Q32143643-DAA7EA97-1A81-4EB5-BAD1-823375B63128
|
|
p:P4317
|
wd:statement/Q32143643-3CAF9C57-5E91-4F6A-941E-BC6A85A5BF84
|
|
p:P486
|
wd:statement/Q32143643-54599C73-E0AC-47E5-A6B8-B4B72EB8C33F
|
|
p:P492
|
wd:statement/Q32143643-30DACB15-8F2D-4F2C-899B-ED195BCA3932
|
|
wd:statement/Q32143643-3498DE5E-A14C-4E4B-BE53-7D7C8508AAB4
|
|
p:P5008
|
wd:statement/Q32143643-E7568522-712D-4FE0-9462-F3570ABEC30C
|
|
p:P5270
|
wd:statement/Q32143643-481F47B5-B07E-47AA-B821-A9427922F5DF
|
|
p:P699
|
wd:statement/Q32143643-8DAEE53D-99EE-42DC-8A06-D151E663E405
|
|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/C536492>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0011558>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0110839>
|
|
wdt:P11430
|
"DI-01119"
|
|
wdt:P1748
|
"C153174"
|
|
wdt:P2293
|
PDZD7
|
|
ADGRV1
|
|
wdt:P279
|
Usher syndrome type 2
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0110839>
|
|
<http://purl.obolibrary.org/obo/DOID_0110839>
|
|
<http://www.orpha.net/ORDO/Orphanet_231178>
|
|
<http://www.orpha.net/ORDO/Orphanet_886>
|
|
wdt:P2892
|
"C1854237"
|
|
"C2676439"
|
|
"C2931213"
|
|
"C3148929"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P4229
|
"H35.5"
|
|
wdt:P4317
|
"8497"
|
|
wdt:P486
|
"C536492"
|
|
wdt:P492
|
"605472"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0011558"
|
|
wdt:P699
|
"DOID:0110839"
|