|
rdfs:label
|
"cone-rod dystrophy 18"@en
|
|
skos:altLabel
|
"CONE-ROD DYSTROPHY 18"@en
|
|
"CONE-ROD DYSTROPHY 18; CORD18"@en
|
|
"CORD18"@en
|
|
"cone-rod dystrophy type 18"@en
|
|
schema:description
|
"cone-rod dystrophy that has material basis in homozygous mutation in the RAB28 gene on chromosome 4p15"@en
|
|
schema:dateModified
|
"2024-02-25T23:57:35+00:00"^^xsd:dateTime
|
|
schema:version
|
2087298652
|
|
wikibase:identifiers
|
6
|
|
wikibase:sitelinks
|
0
|
|
wikibase:statements
|
14
|
|
p:P11430
|
wd:statement/Q32146202-bdd148a5-494b-fb44-d9e8-ba0852764d85
|
|
p:P2293
|
wd:statement/Q32146202-4527482B-6F38-44F4-AD7F-25BCCACE9204
|
|
p:P279
|
wd:statement/Q32146202-D0B81EA3-216C-4DC1-B490-FF6F30AB1F9E
|
|
p:P2888
|
wd:statement/Q32146202-42719CBF-117F-46F2-B0AF-8A54E99BE602
|
|
wd:statement/Q32146202-592B04FC-C668-4F79-B88D-AB27685BAFB8
|
|
wd:statement/Q32146202-FAA178C6-B7AF-4074-8F9B-E0C2FB7F1AA8
|
|
p:P2892
|
wd:statement/Q32146202-BE3D95B6-6A4B-47A2-AFB0-64EDCD8C6E5C
|
|
p:P31
|
wd:statement/Q32146202-8CF6F446-7021-449B-B0BA-BED0BDD287EF
|
|
wd:statement/Q32146202-B2B64C1D-FFE4-4986-982D-A24FDE0B10B8
|
|
p:P492
|
wd:statement/Q32146202-1A588D94-9300-4722-B09B-FC588987DD57
|
|
wd:statement/Q32146202-E7477A34-3FC2-48C1-931D-CC70ADB9990C
|
|
p:P5008
|
wd:statement/Q32146202-C42A049D-75F1-4DD0-9647-6F7E971C62A2
|
|
p:P5270
|
wd:statement/Q32146202-23367F13-3D54-46D5-B24D-9A1D78B2A489
|
|
p:P699
|
wd:statement/Q32146202-DD3541BD-4E97-4240-BCE0-43786AAA8A10
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0014153>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0111024>
|
|
wdt:P11430
|
"DI-03861"
|
|
wdt:P2293
|
RAB28
|
|
wdt:P279
|
cone-rod dystrophy
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0111024>
|
|
<http://purl.obolibrary.org/obo/DOID_0111024>
|
|
<http://www.orpha.net/ORDO/Orphanet_1872>
|
|
wdt:P2892
|
"C3809299"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P492
|
"615374"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0014153"
|
|
wdt:P699
|
"DOID:0111024"
|