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rdfs:label
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"Leber congenital amaurosis 11"@en
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skos:altLabel
|
"Amaurosis congenita of Leber, type 11"@en
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"LCA11"@en
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"LEBER CONGENITAL AMAUROSIS 11"@en
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|
"LEBER CONGENITAL AMAUROSIS 11; LCA11"@en
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|
"Leber congenital amaurosis type 11"@en
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|
schema:description
|
"Krankheit"@de
"Leber congenital amaurosis that has material basis in mutation n the IMPDH1 gene on chromosome 7q31.3-q32"@en
"хвороба"@uk
"مرض يصيب الإنسان"@ar
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schema:dateModified
|
"2026-07-05T10:59:50+00:00"^^xsd:dateTime
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schema:version
|
2514100479
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wikibase:identifiers
|
9
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|
wikibase:sitelinks
|
0
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|
wikibase:statements
|
18
|
|
p:P11430
|
wd:statement/Q27677680-74c40362-406b-3148-9ec1-27ae83b253f5
|
|
p:P2293
|
wd:statement/Q27677680-7B45F537-E8FB-4149-9DB8-D6FD5923403C
|
|
p:P279
|
wd:statement/Q27677680-2E72E43C-C557-4C5C-AFA1-97B65BA93637
|
|
wd:statement/Q27677680-992572D3-C52B-4B9D-8DCF-D34DC28290A2
|
|
wd:statement/Q27677680-C38F90DF-7E16-4B72-849A-F1AD00B722BD
|
|
p:P2888
|
wd:statement/Q27677680-2B4BBEE6-2DF4-48D0-B9A5-87F42945B239
|
|
wd:statement/Q27677680-BED9F4A1-79F2-4599-9FF7-599565DE4357
|
|
p:P2892
|
wd:statement/Q27677680-647FEB5F-1F70-48FE-9544-3DCB9CAFF045
|
|
p:P31
|
wd:statement/Q27677680-6148FD53-585E-44A2-B5C5-F6681B8C69A7
|
|
wd:statement/Q27677680-8FCD80AB-BE54-4C16-8DB1-65C786AFA321
|
|
p:P4229
|
wd:statement/Q27677680-017DA00D-CBAB-4522-9BB5-16BB77F372D5
|
|
p:P4317
|
wd:statement/Q27677680-E6EEE8E5-250B-46E1-AAFA-37C5BAFE527B
|
|
p:P486
|
wd:statement/Q27677680-B51CAF5A-09B6-4F68-94C8-EF90D9B4A168
|
|
p:P492
|
wd:statement/Q27677680-0CC1297A-E9DB-4C9F-8CEA-25137BEB43C7
|
|
wd:statement/Q27677680-AE11654F-7DC1-49DC-80EC-41069C3EB68C
|
|
p:P5008
|
wd:statement/Q27677680-319F7DA4-A104-4F20-9CDD-38DD0197DA46
|
|
p:P5270
|
wd:statement/Q27677680-4C855F43-8D0D-48E5-B325-3B94FC453D09
|
|
p:P699
|
wd:statement/Q27677680-99651CCF-DAD0-43A1-A8F7-90F7B6C8A25F
|
|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/C564140>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0013454>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0110216>
|
|
wdt:P11430
|
"DI-03048"
|
|
wdt:P2293
|
IMPDH1
|
|
wdt:P279
|
Leber congenital amaurosis
|
|
autosomal dominant disease
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0110216>
|
|
<http://purl.obolibrary.org/obo/DOID_0110216>
|
|
wdt:P2892
|
"C1840284"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P4229
|
"H35.5"
|
|
wdt:P4317
|
"10488"
|
|
wdt:P486
|
"C564140"
|
|
wdt:P492
|
"146690"
|
|
"613837"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0013454"
|
|
wdt:P699
|
"DOID:0110216"
|