SHMARQL

3-methylglutaconic aciduria type 3

<http://www.wikidata.org/entity/Q2823332>

3-methylglutaconic aciduria that has material basis in mutation in the OPA3 gene
rdfs:label
"3-methylglutaconic aciduria type 3"@en
skos:altLabel
"3-METHYLGLUTACONIC ACIDURIA, TYPE III"@en
"3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3"@en
"3-methylglutaconic aciduria type III"@en
"Costeff optic atrophy syndrome"@en
"Costeff syndrome"@en
"Iraqi-Jewish 'Optic Atrophy Plus'"@en
"Iraqi-Jewish optic atrophy plus"@en
"MGA3"@en
"MGCA3"@en
"Mga, Type 3"@en
"Opa3, Autosomal Recessive"@en
"Optic Atrophy 3, Autosomal Recessive"@en
"Optic Atrophy Plus Syndrome"@en
"Optic Atrophy, Infantile, With Chorea and Spastic Paraplegia"@en
"autosomal recessive optic atrophy plus syndrome"@en
"autosomal recessive optic atrophy type 3"@en
"infantile optic atrophy with chorea and spastic paraplegia"@en
schema:description
"3-methylglutaconic aciduria that has material basis in mutation in the OPA3 gene"@en
schema:dateModified "2026-10-24T00:30:22+00:00"^^xsd:dateTime
schema:version 2560166394
wikibase:identifiers 15
wikibase:sitelinks 7
wikibase:statements 38
p:P11430 wd:statement/Q2823332-fa7c154a-4ade-2a29-0472-7c7af0b620b8
p:P138 wd:statement/Q2823332-11ecf758-4644-603d-1078-46a078129093
p:P14914 wd:statement/Q2823332-5B2B2E9E-4D09-4653-B6E9-1A095BE2E90A
p:P1550 wd:statement/Q2823332-9e3f3acf-4c96-94d1-2562-4d76f5aafd01
p:P2293 wd:statement/Q2823332-4A13F031-2D9C-4ABE-9F79-F9681D321A1C
wd:statement/Q2823332-D5B24542-BE9A-4E6B-8C59-E012A8E477D4
p:P2671 wd:statement/Q2823332-4D2A1665-784E-4BCA-A8D0-8583A7BF0017
p:P279 wd:statement/Q2823332-2d97ddab-4551-5b33-6805-1b7c15323b01
wd:statement/Q2823332-41586AE3-73B5-4284-AF49-38364D544CDF
wd:statement/Q2823332-43B704C6-DECF-47F6-AE23-C2FA0814B7F7
wd:statement/Q2823332-44663A1A-02C0-4608-A97D-90C4A20BC4F8
wd:statement/Q2823332-9feea57f-466f-3219-47be-8ff1a9df65d1
p:P2841 wd:statement/Q2823332-BBC537E1-54A5-4ED4-92DC-3C582B5FD1FC
p:P2888 wd:statement/Q2823332-5EF2C1E1-C16F-41D8-97B2-9575D921E8E8
wd:statement/Q2823332-BE3B2371-D73D-4E37-86A5-DD8BAE6FEB25
p:P2892 wd:statement/Q2823332-F8366188-02F4-453D-9C69-5BB6CA23D929
p:P31 wd:statement/Q2823332-0C966E9C-59A4-4EEE-A81D-221C86D59EE6
wd:statement/Q2823332-70CB9092-BBE4-48D2-92C2-A682A848B88F
p:P4229 wd:statement/Q2823332-4ae15f68-43de-c4f3-994e-3e1061793d8c
wd:statement/Q2823332-724017FC-C400-4A9A-B661-0C300943CBB3
p:P4317 wd:statement/Q2823332-46f49db0-4994-2091-4840-9754d6c35c39
p:P486 wd:statement/Q2823332-1667e508-40ac-e53c-5690-a516ecd9caeb
p:P492 wd:statement/Q2823332-e99e3094-4705-da44-a7f9-10c3bbf28549
p:P5008 wd:statement/Q2823332-4E429599-8486-4DF3-B5B0-FC8493956C27
p:P5270 wd:statement/Q2823332-C1BC65AC-20B4-41BD-8BDF-FC1210FE34EE
p:P61 wd:statement/Q2823332-6426b66d-484b-d015-c7fd-b0899be91b92
p:P6532 wd:statement/Q2823332-0B3F2F57-ED62-4B9B-82BC-8606339A77EE
wd:statement/Q2823332-451F5BFD-176F-4FD0-90C3-38DDF43DC184
wd:statement/Q2823332-53BDFABE-ECBC-49EB-9EB3-AF780F04945E
wd:statement/Q2823332-7A5AAF92-2CAF-43F2-8AEE-046B832038E4
wd:statement/Q2823332-977A5990-54CA-424A-A1C1-6F4C1B4735A3
wd:statement/Q2823332-B280C147-0CFC-4C58-9582-C50E5E8FB66C
wd:statement/Q2823332-C7DADC37-4AD0-4905-AC5A-B1061FC296AE
wd:statement/Q2823332-FEFA573F-3E08-4151-B474-3933BAAEAC3B
p:P668 wd:statement/Q2823332-f10366e3-441d-9048-e4bd-5dd7914943b5
p:P699 wd:statement/Q2823332-7386426C-B9A0-440C-8D11-A2AF965617BB
p:P7464 wd:statement/Q2823332-E685CFB0-07D7-438C-A8B5-C7266480E0B7
p:P7807 wd:statement/Q2823332-9f0e8fd6-4136-1877-3cdd-4b8f78bbcd1f
p:direct-normalized/P2671 <http://g.co/kg/g/122z2q4d>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C535311>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0009787>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0110004>
wdt:P11430 "DI-00006"
wdt:P138 Hanan Costeff
wdt:P14914 "D67047"
wdt:P1550 "67047"
wdt:P2293 OPA3
MICOS13
wdt:P2671 "/g/122z2q4d"
wdt:P279 autosomal recessive disease
3-methylglutaconic aciduria
autosomal dominant optic atrophy and cataract
syndromic hereditary optic neuropathy
wdt:P2841 childhood onset
wdt:P2888 <http://identifiers.org/doid/DOID:0110004>
<http://purl.obolibrary.org/obo/DOID_0110004>
wdt:P2892 "C0574084"
wdt:P31 type of disease
rare disease
wdt:P4229 "E71.1"
"E71.111"
wdt:P4317 "5663"
wdt:P486 "C535311"
wdt:P492 "258501"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0009787"
wdt:P61 Hanan Costeff
wdt:P6532 cerebellar ataxia
pathologic nystagmus
dysarthria
disability affecting intellectual abilities
Choreoathetosis
spastic paraparesis
visual impairment
gait abnormality
wdt:P668 "NBK1473"
wdt:P699 "DOID:0110004"
wdt:P7464 "costeff-syndrome"
wdt:P7807 "535412248"
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