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rdfs:label
|
"Paraplegia espástica autossômica recessiva tipo 46"@pt
"Paraplegia espástica autossômica recessiva tipo 46"@pt-br
"hereditary spastic paraplegia 46"@en
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|
skos:altLabel
|
"SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE"@en
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|
"SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46"@en
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|
"SPG46"@en
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|
"autosomal recessive spastic paraplegia 46"@en
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|
"autosomal recessive spastic paraplegia type 46"@en
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|
"hereditary spastic paraplegia type 46"@en
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schema:description
|
"gene (9p13.2) encoding non-lysosomal glucosylceramidase."@en
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|
schema:dateModified
|
"2026-10-24T00:06:10+00:00"^^xsd:dateTime
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schema:version
|
2560162470
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|
wikibase:identifiers
|
8
|
|
wikibase:sitelinks
|
0
|
|
wikibase:statements
|
33
|
|
p:P11430
|
wd:statement/Q32143076-081ce85e-46ec-03d3-1545-06fc189280f0
|
|
p:P1193
|
wd:statement/Q32143076-A460EAE8-5452-422A-8070-01AB6B82D260
|
|
p:P14914
|
wd:statement/Q32143076-B86D7C29-0558-4D1F-9EF1-60F4078F432F
|
|
p:P1550
|
wd:statement/Q32143076-CCA384EA-9372-45A3-85F9-74DFD534068F
|
|
p:P1995
|
wd:statement/Q32143076-9274EAB6-F529-49CA-8237-9BFF1B6A8C25
|
|
p:P2293
|
wd:statement/Q32143076-AD7EE570-C53A-4BA1-928B-B14042107E63
|
|
p:P279
|
wd:statement/Q32143076-1AFF7560-16B3-4B7B-A938-8AC8ADD66CEF
|
|
wd:statement/Q32143076-AC227A5B-EA85-42B4-8782-F6468781EF83
|
|
wd:statement/Q32143076-D31A6BD9-C5F2-4C2E-A482-C5F04F6B8B46
|
|
p:P2841
|
wd:statement/Q32143076-3442ECD9-906C-4403-97FE-948030439DB9
|
|
wd:statement/Q32143076-457F47E4-4DBE-47A2-80BD-8D3B414B2EB3
|
|
p:P2888
|
wd:statement/Q32143076-8EE2E747-3A7B-4778-A201-88D352DC8BC0
|
|
wd:statement/Q32143076-E129997A-0712-4307-B745-9EA677741B9D
|
|
wd:statement/Q32143076-F1D599FC-885A-4E9F-B41F-ACDADAAB595B
|
|
p:P2892
|
wd:statement/Q32143076-97C5A3AA-CEAC-489B-BCC3-FB6E3109CD98
|
|
p:P31
|
wd:statement/Q32143076-75FBCCC1-6F79-4DE6-B649-4EC9D823F9F9
|
|
wd:statement/Q32143076-D2590826-3EE5-42C7-8A9A-BBB91698E94E
|
|
p:P4229
|
wd:statement/Q32143076-268DD5A5-D925-4672-81DA-A0E969AC123A
|
|
p:P492
|
wd:statement/Q32143076-46FEC7EA-896C-4A87-99DD-C3568E8D93E6
|
|
p:P5008
|
wd:statement/Q32143076-663C82DD-7F3A-4ACB-8943-E02C6E4D570B
|
|
p:P5270
|
wd:statement/Q32143076-03ACBB35-6036-4514-A94F-C68D18832446
|
|
p:P6532
|
wd:statement/Q32143076-08537C4A-E528-4E7E-99D7-DB6D5692A7E1
|
|
wd:statement/Q32143076-1068627F-CC1F-4AFC-B330-4A6907C714E0
|
|
wd:statement/Q32143076-1AECD11F-8237-487D-9B42-606D7F1B6A92
|
|
wd:statement/Q32143076-1CB43CA4-8445-4A4C-BFD2-30AE7781E81E
|
|
wd:statement/Q32143076-222D2A3C-7D84-48CE-A995-E93BF57ED14D
|
|
wd:statement/Q32143076-342732C3-B467-4DB1-A559-06065F391DFD
|
|
wd:statement/Q32143076-3E993F23-FDAA-4EA4-AC41-8EAE4ECD7A1A
|
|
wd:statement/Q32143076-5CDA22E2-BCEF-4019-9311-332BCA132E15
|
|
wd:statement/Q32143076-C61ECC38-462D-4B01-8D49-B52C087C093A
|
|
wd:statement/Q32143076-FA1FBA57-7FB0-4AC5-901D-77730AB1D7EE
|
|
wd:statement/Q32143076-FAC2AEE1-8AD2-425A-8129-47E855688AA1
|
|
p:P699
|
wd:statement/Q32143076-132C007B-97DD-465C-9A7F-5FFA902B79C6
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0013737>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0110798>
|
|
wdt:P11430
|
"DI-03745"
|
|
wdt:P1193
|
0.000001^^xsd:decimal
|
|
wdt:P14914
|
"D320391"
|
|
wdt:P1550
|
"320391"
|
|
wdt:P1995
|
neurology
|
|
wdt:P2293
|
GBA2
|
|
wdt:P279
|
autosomal recessive complex spastic paraplegia
|
|
wdt:P2841
|
infantile onset
|
|
childhood onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0110798>
|
|
<http://purl.obolibrary.org/obo/DOID_0110798>
|
|
<http://www.orpha.net/ORDO/Orphanet_320391>
|
|
wdt:P2892
|
"C2828721"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P4229
|
"G11.4"
|
|
wdt:P492
|
"614409"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0013737"
|
|
wdt:P6532
|
deafness
|
|
pyramidal sign
|
|
Abnormal sperm head morphology
|
|
cerebellar ataxia
|
|
leukoaraiosis
|
|
urinary incontinence
|
|
broad-based gait
|
|
cerebellar atrophy
|
|
cognitive dysfunction
|
|
truncal ataxia
|
|
gait abnormality
|
|
wdt:P699
|
"DOID:0110798"
|