temperature-sensitive oculocutaneous albinism type 1

rdfs:label
"temperature-sensitive oculocutaneous albinism type 1"@en
skos:altLabel "OCA1-TS"@en
"TS OCA type 1"@en
schema:dateModified "2026-10-24T00:10:54+00:00"^^xsd:dateTime
schema:version 2560163226
wikibase:identifiers 6
wikibase:sitelinks 0
wikibase:statements 14
p:P1193 wd:statement/Q56014095-16D3868C-44C8-4FD3-80CB-5FDFC6C6323D
p:P14914 wd:statement/Q56014095-014FD15A-5AC5-4397-BE7D-960B25A11B6D
p:P1550 wd:statement/Q56014095-DAFBF0AD-AE79-4B56-B311-5C29B4986953
p:P2293 wd:statement/Q56014095-CF6F25DF-00A6-49A5-BD12-4B0882D9F943
wd:statement/Q56014095-DCA62AB0-3EE9-4F94-A89E-9A511F9554AA
p:P279 wd:statement/Q56014095-B5DA24D9-5FD8-4985-83AB-F23E35D2EC03
p:P2841 wd:statement/Q56014095-2B8EC2BD-0476-4378-8E02-2908B0DEBD0D
wd:statement/Q56014095-9206CDA4-C4C8-46F3-B718-E8437CEEA07B
p:P2888 wd:statement/Q56014095-7DEF47D2-8BB7-44E0-B3B6-95AB7BEFE596
p:P2892 wd:statement/Q56014095-FD1490ED-2E12-4A57-83DD-513484837788
p:P31 wd:statement/Q56014095-5D6A7A2C-19FD-498B-877F-69117C956BBD
p:P4229 wd:statement/Q56014095-D64A825E-C497-4B90-BECF-BED309371C7E
p:P5270 wd:statement/Q56014095-496B7D84-A3C1-4BBB-B260-091B51134AB3
p:P7807 wd:statement/Q56014095-1D88C11E-C1E3-4EB3-8D04-EA89FD2D59E1
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0018137>
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D352737"
wdt:P1550 "352737"
wdt:P2293 TYR
monophenol monooxygenase
wdt:P279 oculocutaneous albinism type 1
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://www.orpha.net/ORDO/Orphanet_352737>
wdt:P2892 "C1847132"
wdt:P31 type of disease
wdt:P4229 "E70.3"
wdt:P5270 "MONDO_0018137"
wdt:P7807 "1954386024"
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