isolated microphthalmia 3

microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has material basis in compound heterozygous mutation in the RAX gene on chromosome 18q21
rdfs:label "isolated microphthalmia 3"@en
skos:altLabel "MCOP3"@en
schema:description
"microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has material basis in compound heterozygous mutation in the RAX gene on chromosome 18q21"@en
schema:dateModified "2026-07-05T11:11:46+00:00"^^xsd:dateTime
schema:version 2514103960
wikibase:identifiers 7
wikibase:sitelinks 0
wikibase:statements 20
p:P11430 wd:statement/Q28065646-076ca493-4624-2ff9-9751-6b43844e16ad
p:P1550 wd:statement/Q28065646-9A5FCBE1-B502-4BD0-B4F3-1C0567C81B8B
p:P1995 wd:statement/Q28065646-CFE940F9-26AF-4D5F-B3A6-9184D600D34B
p:P2293 wd:statement/Q28065646-9C0CD4DB-DBFA-4C5F-8F92-DC3C9E3CA9B0
wd:statement/Q28065646-A27345E8-DB50-4AB5-917E-F7A11E367DC7
wd:statement/Q28065646-CDD582BF-98B1-429E-BC34-40EAA5F69DB0
wd:statement/Q28065646-DA3B58E2-1B1C-4536-93D5-B57AD4DE2B29
p:P279 wd:statement/Q28065646-1776F618-0679-4FD3-9B50-D06626528075
wd:statement/Q28065646-BDEFE06C-D615-4DBA-8930-70E47D59641D
wd:statement/Q28065646-DE8DB8EB-C35F-4C2F-8C04-92985C95146C
p:P2888 wd:statement/Q28065646-862B3662-AAAE-4DF1-8A94-8D9513F30473
wd:statement/Q28065646-AD994161-3C7D-4CB0-B263-4EFE75CABB41
p:P2892 wd:statement/Q28065646-FE642C01-54D8-4E7F-A0B2-C9C8129D3D87
p:P31 wd:statement/Q28065646-4C97E0B8-4945-4C37-9950-8E6912AB5384
wd:statement/Q28065646-518A4764-2A19-4FAF-BC1F-54B71CCF15C7
p:P4229 wd:statement/Q28065646-CE2BE7DD-5F39-4153-8DE5-F7E238C2CD84
p:P492 wd:statement/Q28065646-8CFA081F-8F10-446E-B7D4-7027BE47DEFA
p:P5008 wd:statement/Q28065646-F7FE3B4D-23B9-43EB-8506-D2542E9AE691
p:P5270 wd:statement/Q28065646-DE9BEBEA-2B0C-415B-A590-61136FBCA6FD
p:P699 wd:statement/Q28065646-F33BD765-4CE5-4BCA-BA53-2D75D8273FA6
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0012604>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0060842>
wdt:P11430 "DI-00756"
wdt:P1550 "2542"
wdt:P1995 medical genetics
wdt:P2293 GDF6
RAX
VSX2
PRSS56
wdt:P279 autosomal recessive disease
isolated microphthalmia
wdt:P2888 <http://identifiers.org/doid/DOID:0060842>
<http://purl.obolibrary.org/obo/DOID_0060842>
wdt:P2892 "C5679828"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q11.0"
wdt:P492 "611038"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0012604"
wdt:P699 "DOID:0060842"
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