|
rdfs:label
|
"Albinismo oculocutâneo"@pt
"Albinismo oculocutâneo"@pt-br
"Okulokutaner Albinismus"@de
"albinisme oculocutané"@fr
"oculocutaneous albinism"@en
"眼皮膚白化症"@zh
"眼皮膚白化症"@zh-hans
"眼面板白化症"@zh-hant
|
|
skos:altLabel
|
"Albinism, Oculocutaneous"@en
"I型眼皮肤型白化病"@zh
"OCA"@en
"Oculocutaner Albinismus"@de
"albinisme oculo-cutané"@fr
"眼睛皮膚白化症"@zh
|
|
schema:description
|
"Krankheit"@de
"autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes"@en
"malattia"@it
"хвороба"@uk
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|
schema:dateModified
|
"2026-10-24T00:26:18+00:00"^^xsd:dateTime
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schema:version
|
2560165810
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wikibase:identifiers
|
25
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|
27
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wikibase:sitelinks
|
2
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wikibase:statements
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51
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p:P10283
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p:P1692
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wd:statement/Q2017741-CCA404FF-1F04-4DDF-B22F-5D0C1F5FE907
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p:P1748
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wd:statement/Q2017741-63DC6202-0DD5-44A9-84C4-A6DD97543F10
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p:P1995
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wd:statement/Q2017741-451290cd-47a4-3515-5b67-df25ceec8c8a
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wd:statement/Q2017741-5ec9be1d-4fa3-ef38-ff6c-f3cf9ac65aed
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p:P2293
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wd:statement/Q2017741-2E238ACB-0D93-4B68-8219-577791A95D0C
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wd:statement/Q2017741-31BF1EA5-F2BF-466F-95D7-CFE51C598BFF
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wd:statement/Q2017741-5052F5F0-22CA-4BA5-B8E9-ED6197F98FC5
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wd:statement/Q2017741-87579867-F98E-42A4-9F20-519BD296DC6A
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wd:statement/Q2017741-8D8BB11E-848B-4B19-9697-423F8AE586C3
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wd:statement/Q2017741-AE435FAA-12ED-4720-9BD1-3EC9440C27F7
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wd:statement/Q2017741-E51845B8-AB37-4821-8A9E-F89C7D2B6149
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wd:statement/Q2017741-F39C881D-BDA4-42AD-9547-D6A480604259
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p:P279
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wd:statement/Q2017741-3ed150ad-4099-6c16-7819-8e7ab57663e6
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wd:statement/Q2017741-BA5DB1C7-A538-41C0-B58C-702C5453F443
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p:P2841
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wd:statement/Q2017741-112A3959-3B0C-40C2-82B7-D5D5FAD34A58
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p:P2888
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wd:statement/Q2017741-0A997CF8-8B0F-4EA8-B6FB-F0E28BE67347
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wd:statement/Q2017741-160998D3-5B9C-4588-99CD-871E58CCE71D
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wd:statement/Q2017741-CCB8A1DA-0B04-4C3F-9BD5-434333917696
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p:P2892
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wd:statement/Q2017741-236A2BB0-81EE-488D-BC44-B1FB75A4A0F0
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p:P31
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wd:statement/Q2017741-8C6DEE9B-9B4C-43E6-9AD5-6F51865501E9
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wd:statement/Q2017741-A2EE8666-9F40-4B8F-8281-2ECD38D7BC79
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wd:statement/Q2017741-BE68AF16-2188-4579-ACCB-0B7828233C36
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p:P4229
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wd:statement/Q2017741-8C6D08B5-3323-47F5-8250-2E0A87F160B6
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p:P4233
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wd:statement/Q2017741-993818be-4335-c877-999a-adc46547e6cb
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p:P4317
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wd:statement/Q2017741-A0B7CDC7-A77E-4BB6-993A-339C0BFD8546
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p:P486
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wd:statement/Q2017741-DE3483CB-4CC8-4D1E-99F1-88B106DE137D
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p:P492
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wd:statement/Q2017741-5626A49D-2060-49BD-8D36-B2962B8817DA
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p:P493
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wd:statement/q2017741-94D7FDC1-33B9-4A69-BA7F-E827ECB29BA4
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p:P5008
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wd:statement/Q2017741-79089D81-3B46-4D52-A4C5-9CE2C344E759
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p:P5270
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wd:statement/Q2017741-436439E4-C4FE-43FC-92A5-78269B93315C
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p:P6366
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wd:statement/Q2017741-958F1478-ACF1-4B53-94C1-88323F4A9606
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p:P665
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wd:statement/Q2017741-32DFA761-3799-4A31-8699-87D884681A7E
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p:P672
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wd:statement/Q2017741-11699185-B01B-4FF5-AF0C-235AEF2258A8
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wd:statement/Q2017741-291714BB-652C-410E-BBE8-C0345A12AD86
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wd:statement/Q2017741-3A6176F0-61C2-44B4-820F-E2823C5B91AA
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wd:statement/Q2017741-ACBB8EE0-F403-4F4E-BB0A-347A0DBA6E1B
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wd:statement/Q2017741-BB5B440E-3D94-43A2-837D-CECEA9C817AB
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wd:statement/Q2017741-C6BE1DF6-9C61-4B57-A552-A52A7868A272
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wd:statement/Q2017741-C72997F6-9DA4-4A68-9F21-631556D15411
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p:P699
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wd:statement/Q2017741-DADC9C88-A90E-4295-9464-27DD10F60CCE
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p:P7329
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wd:statement/Q2017741-3a10ea97-9c23-4b8c-b7d9-d4eb7a8c00b3
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p:P7464
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wd:statement/Q2017741-86930703-A931-49BE-8C8F-192F10F9C24C
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p:P7807
|
wd:statement/Q2017741-5ec9f577-4219-9365-f6fd-13c82812f944
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|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/D016115>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0018910>
|
|
p:direct-normalized/P6366
|
<https://makg.org/entity/2775849878>
|
|
p:direct-normalized/P665
|
<http://www.kegg.jp/entry/H00168>
|
|
p:direct-normalized/P672
|
<http://id.nlm.nih.gov/mesh/C11.270.040.545>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.290.040.100>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.565.100.102.100>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.850.080.100>
|
|
<http://id.nlm.nih.gov/mesh/C17.800.621.440.102.100>
|
|
<http://id.nlm.nih.gov/mesh/C17.800.827.080.100>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.648.100.102.100>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0050632>
|
|
wdt:P10283
|
"C2775849878"
|
|
wdt:P11143
|
"Oculocutaneous albinism"
|
|
wdt:P1193
|
0.00005^^xsd:decimal
|
|
wdt:P1325
|
<http://www.nanbyou.or.jp/entry/4492>
|
|
wdt:P1417
|
"science/oculocutaneous-albinism"
|
|
wdt:P14914
|
"D00055"
|
|
wdt:P1550
|
"55"
|
|
wdt:P1692
|
"270.2"
|
|
wdt:P1748
|
"C84941"
|
|
wdt:P1995
|
ophthalmology
|
|
dermatology
|
|
wdt:P2293
|
DCT
|
|
TYR
|
|
SLC24A5
|
|
ABCC6
|
|
MC1R
|
|
OCA2
|
|
TYRP1
|
|
SLC45A2
|
|
LRMDA
|
|
wdt:P279
|
autosomal recessive disease
|
|
albinism
|
|
wdt:P2841
|
neonatal onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0050632>
|
|
<http://purl.obolibrary.org/obo/DOID_0050632>
|
|
<http://www.orpha.net/ORDO/Orphanet_55>
|
|
wdt:P2892
|
"C0078918"
|
|
wdt:P31
|
type of disease
|
|
designated intractable/rare disease
|
|
rare disease
|
|
wdt:P4229
|
"E70.3"
|
|
wdt:P4233
|
"oculocutaneous-albinism"
|
|
wdt:P4317
|
"10958"
|
|
wdt:P486
|
"D016115"
|
|
wdt:P492
|
"203100"
|
|
wdt:P493
|
"270.265856"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0018910"
|
|
wdt:P6366
|
"2775849878"
|
|
wdt:P665
|
"H00168"
|
|
wdt:P672
|
"C11.270.040.545"
|
|
"C16.320.290.040.100"
|
|
"C16.320.565.100.102.100"
|
|
"C16.320.850.080.100"
|
|
"C17.800.621.440.102.100"
|
|
"C17.800.827.080.100"
|
|
"C18.452.648.100.102.100"
|
|
wdt:P699
|
"DOID:0050632"
|
|
wdt:P7329
|
"EC23.20"
|
|
wdt:P7464
|
"oculocutaneous-albinism"
|
|
wdt:P7807
|
"1189424097"
|