oculocutaneous albinism type 1

medical condition
rdfs:label
"oculocutaneous albinism type 1"@en
skos:altLabel
"OCA1"@en
"Oculocutaneous albinism type I"@en
schema:description
"medical condition"@en
schema:dateModified "2026-10-24T00:10:53+00:00"^^xsd:dateTime
schema:version 2560163223
wikibase:identifiers 11
wikibase:sitelinks 3
wikibase:statements 31
p:P1193 wd:statement/Q1401065-6CDDC0A4-8245-40D8-BD48-BC0EFDB11CF2
p:P14914 wd:statement/Q1401065-52C6AE0C-8E46-41E7-B892-17790256B61D
p:P1550 wd:statement/Q1401065-6F57E5C0-32CD-4BE8-8AC4-1249B0B59DCD
p:P18 wd:statement/Q1401065-A5EB5950-66D1-4CDA-8B5B-DA60232967FF
p:P2293 wd:statement/Q1401065-22F72A92-102F-4DBF-92EE-9F954AB5E1A3
wd:statement/Q1401065-799D5F17-59DC-4FFF-978F-EF9334D24E54
p:P279 wd:statement/Q1401065-5b035089-469f-835a-b082-40cddd7f5178
p:P2841 wd:statement/Q1401065-99026E23-0056-43F6-A5ED-38AC83CAC0F6
wd:statement/Q1401065-D94714FA-05F4-4EEB-8713-1317735668AB
p:P2888 wd:statement/Q1401065-3BB799E6-B0EA-4693-8EF4-F1A78E5FDBAA
p:P2892 wd:statement/Q1401065-02EBE895-9C68-429C-8D55-9CE350FB0ED4
wd:statement/Q1401065-90416D77-1797-44E9-8EEA-C63CBE644C3F
p:P31 wd:statement/Q1401065-73F9674A-F4D2-4CF0-810C-19EC61CE24D9
p:P4229 wd:statement/Q1401065-7FBBCF1D-CADE-4F1B-A6B9-B45D41C4C998
p:P4317 wd:statement/Q1401065-5EA0FF2E-BECA-46D1-9290-4913255EC4CC
p:P486 wd:statement/Q1401065-68269fe0-4f1b-d34a-c075-5c555e3ef0ea
p:P492 wd:statement/Q1401065-1bf04c17-4ea7-c719-1bbe-0dd84b07d197
wd:statement/Q1401065-c1372b1c-437e-c353-c2eb-22430c9209b9
p:P5270 wd:statement/Q1401065-65DB3B7E-B677-416C-8087-8A517D17C615
p:P6366 wd:statement/Q1401065-94341F58-9F37-4695-A87A-D78DCB6B6932
p:P6532 wd:statement/Q1401065-173D843E-8B71-4481-A753-C88AF89623F2
wd:statement/Q1401065-1BB0D263-5E6D-43A8-9BCB-845394BE30E6
wd:statement/Q1401065-1DB71E95-AB95-4EA9-968E-4BA5223092A8
wd:statement/Q1401065-49458A26-CF67-4DAE-A3DF-8A634A26ACCA
wd:statement/Q1401065-842514A4-5B66-4DDF-9B24-F9E6963CAC25
wd:statement/Q1401065-9877398C-8C71-470E-89F9-BBD3146A5ECC
wd:statement/Q1401065-B00540B2-A137-4A5A-B5A8-B5C2050A4F8A
wd:statement/Q1401065-BBF59606-9DD4-4932-9554-25AFE5E457B0
wd:statement/Q1401065-E37AF176-D9F4-4AC6-A3C8-353001212762
wd:statement/Q1401065-ED3168A5-6702-4994-BAA5-2938690F6499
wd:statement/Q1401065-F3D871A7-F57A-41FA-9735-BE9221D90AE8
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C537729>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0018135>
p:direct-normalized/P6366 <https://makg.org/entity/2781331152>
wdt:P1193 0.00005^^xsd:decimal
wdt:P14914 "D352731"
wdt:P1550 "352731"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Albinistic%20girl%20papua%20new%20guinea.jpg>
wdt:P2293 TYR
monophenol monooxygenase
wdt:P279 oculocutaneous albinism
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://www.orpha.net/ORDO/Orphanet_352731>
wdt:P2892 "C0268494"
"C1847024"
wdt:P31 type of disease
wdt:P4229 "E70.3"
wdt:P4317 "4037"
wdt:P486 "C537729"
wdt:P492 "203100"
"606952"
wdt:P5270 "MONDO_0018135"
wdt:P6366 "2781331152"
wdt:P6532 Blue irides
Generalized hypopigmentation
Reduced visual acuity
Iris transillumination defect
strabismus
pathologic nystagmus
pigment dispersion syndrome of iris
amblyopia
photophobia
photosensitivity
actinic keratosis
Download as:
TurtleJSON-LDRDF/XML
data from SPARQL profile: Wikidata