foveal hypoplasia-presenile cataract syndrome

human disease
rdfs:label
"foveal hypoplasia-presenile cataract syndrome"@en
skos:altLabel
"O'Donnell-Pappas syndrome"@en
schema:description
"human disease"@en
schema:dateModified "2026-10-23T23:41:20+00:00"^^xsd:dateTime
schema:version 2560157353
wikibase:identifiers 6
wikibase:sitelinks 0
wikibase:statements 19
p:P1193 wd:statement/Q56013824-24F82F92-D1F3-4DD5-A9FB-5B03A4C9265D
p:P14914 wd:statement/Q56013824-7017352E-0CFD-49D9-A6FB-18C922D4BF2E
p:P1550 wd:statement/Q56013824-E93BAB34-1BC6-4179-9386-67CF91AAE302
p:P2293 wd:statement/Q56013824-F2F6B256-5D49-40A9-A0C8-7EE60F4B896B
p:P279 wd:statement/Q56013824-32af876f-4e30-ec7c-cb75-aa7a6964cc62
p:P2841 wd:statement/Q56013824-F320E2B2-881A-4F54-AE2D-CBF4651F40D4
p:P2888 wd:statement/Q56013824-912BCC36-56A3-4CFD-90A3-D8E17069EE6C
p:P2892 wd:statement/Q56013824-49135B7D-86F8-47E6-906D-34CEA487D7E7
p:P31 wd:statement/Q56013824-4074D7B2-210E-4B15-A7DC-13894EF24A51
p:P4229 wd:statement/Q56013824-D4CA62BD-1B03-4897-9B29-C930FF1B3E50
p:P486 wd:statement/Q56013824-5B741971-8E52-498B-9156-D3A3E9C9AF75
p:P5270 wd:statement/Q56013824-947C8F8F-8A76-44D5-981C-0CC4C629AD23
p:P6532 wd:statement/Q56013824-150F200A-8003-43BE-9EDB-CC3DC7AB7076
wd:statement/Q56013824-52DD637E-FBD0-40CD-860A-40F997CBA092
wd:statement/Q56013824-AF4333B5-CDFB-45EA-9926-E433C1591A5B
wd:statement/Q56013824-D5AB74B3-75A0-4700-853C-C2EDD3B7E80A
wd:statement/Q56013824-E54B0313-0A59-4B05-9EC0-BF8A3BBD93D6
wd:statement/Q56013824-FA3ACAB1-DD23-4B65-9583-21E025974FD0
wd:statement/Q56013824-FE63A960-2E6F-468A-9307-3980530FE669
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C537858>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0016395>
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D02253"
wdt:P1550 "2253"
wdt:P2293 PAX6
wdt:P279 Macular hypoplasia
wdt:P2841 adult onset
wdt:P2888 <http://www.orpha.net/ORDO/Orphanet_2253>
wdt:P2892 "C2931644"
wdt:P31 type of disease
wdt:P4229 "H26.0"
wdt:P486 "C537858"
wdt:P5270 "MONDO_0016395"
wdt:P6532 cataract
Generalized hyperpigmentation
strabismus
pathologic nystagmus
eye disease
optic atrophy
distorted vision
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