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rdfs:label
|
"Acaeruloplasminämie"@de
"Aceruloplazminemija"@hr
"aceruloplasminemia"@en
"aceruloplasminemia"@it
"aceruloplasminemia"@nl
"aceruloplasminemia"@pt
"aceruloplasminèmia"@ca
"acéruléoplasminémie"@fr
"Ацерулоплазминемия"@ru
"آسرولوپلاسمینمی"@fa
"أسترولوبلاسمينيا"@ar
"セルロプラスミン欠損症"@ja
"原血漿銅藍蛋白缺乏症"@zh
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skos:altLabel
|
"ACERULOPLASMINEMIA"@en
"Aceruleoplasminemie"@fr
"Aceruloplasminemia congenita"@it
"Acéruléoplasmine"@fr
"Ceruloplasmin Deficiency"@en
"Familial apoceruloplasmin deficiency"@en
"Hemosiderosis, Systemic, Due to Aceruloplasminemia"@en
"Hereditary ceruloplasmin deficiency"@en
"Hypoceruloplasminemia"@en
"Systemic hemosiderosis due to aceruloplasminemia"@en
"Гипоцерулоплазминемия"@ru
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schema:description
|
"Krankheit"@de
"adult-onset disorder of neurodegeneration with brain iron accumulation"@en
"maladie neurodégénérative avec accumulation de fer dans le cerveau"@fr
"malattia genetica a carattere autosomico recessivo, determinata dalla mancanza di ceruloplasmina."@it
"хвороба"@uk
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schema:dateModified
|
"2026-10-24T00:23:36+00:00"^^xsd:dateTime
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schema:version
|
2560165383
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wikibase:identifiers
|
20
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|
23
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wikibase:sitelinks
|
11
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wikibase:statements
|
65
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p:P11143
|
wd:statement/Q337604-FBFB1119-A81D-4D28-8A57-D10575180301
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p:P11430
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wd:statement/Q337604-f1146e2d-458a-16a4-6d25-d8e3a60d8d1f
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wd:statement/Q337604-9570D36E-728F-406F-A729-0E11FC9FB2B1
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wd:statement/Q337604-D980ABBD-74D6-4BAF-A8D8-4DEC741D5BB9
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wd:statement/Q337604-896491F0-381A-4E98-A2A5-854948F6A322
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wd:statement/Q337604-54D30087-CAF9-4CA0-BD1F-A56D7D070F4E
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wd:statement/Q337604-f0f77c63-4787-5a8c-dfb2-ac7d02649ea7
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p:P1995
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wd:statement/Q337604-9EE1F636-95F7-40EB-9976-37F8D8A2AC5F
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p:P2293
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wd:statement/Q337604-90EDE34D-8D7B-422A-8D3D-C0B2C5B344B5
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wd:statement/Q337604-1352E49F-3FA8-47C3-8B84-E1B065025170
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wd:statement/Q337604-837A3975-1BFA-47D8-B355-F601267904B2
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wd:statement/Q337604-96045B1E-F6AF-45ED-B279-09008449202B
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wd:statement/Q337604-F9FE0F12-472D-4DE4-9C07-08B87B719557
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wd:statement/Q337604-cffabce0-4a17-1f18-18bc-1156fdc21a20
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p:P2841
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wd:statement/Q337604-E0797E48-5803-4064-BE7E-C14CC3C93619
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wd:statement/Q337604-F6FD3AFA-C4A9-45D4-A497-C3DF201EF0B2
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p:P2888
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wd:statement/Q337604-422B9023-6021-41E3-8AF3-D5F68DA29AEC
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wd:statement/Q337604-5772571A-F83F-48E3-81DD-987015A86B0A
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wd:statement/Q337604-AFF01B54-FCAF-4C77-911C-DDAC2DB11700
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p:P2892
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wd:statement/Q337604-A6B15210-79A0-484A-88DA-172211980F42
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wd:statement/Q337604-B5554FA8-5FC2-4CDD-9045-A4EDE6D4653C
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p:P31
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wd:statement/Q337604-5B8EF09D-6470-4AA2-AFE1-57E9ACC550FA
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wd:statement/Q337604-9B604718-C5A8-4377-A33E-5162C928C46D
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p:P3201
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wd:statement/Q337604-5DDF066B-61C8-4553-9E14-0324B05A6109
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p:P3841
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wd:statement/Q337604-D624C3DA-1B6B-4A31-95F0-94D4F56DAAA1
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p:P4229
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wd:statement/Q337604-C5F8F229-7066-49CE-9983-C506D6A2C3CE
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p:P4317
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wd:statement/Q337604-BAA01E9E-1E1E-4179-8844-530347DD2448
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p:P486
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wd:statement/Q337604-050b4216-46ad-c490-f344-554b6b27cc39
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p:P492
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wd:statement/Q337604-1DED6841-9476-4D22-B3FF-66B2CE998079
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|
p:P493
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wd:statement/q337604-B4E71F56-12BE-48E3-8705-B011BA0F5C0B
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p:P494
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wd:statement/q337604-BAFAB6AB-D2F9-4D40-9FEC-643706F46B8B
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p:P5008
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wd:statement/Q337604-BE5D13A6-9566-4FF0-9A73-2AB4E47E2E14
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p:P5270
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wd:statement/Q337604-C2827086-8D3E-412C-A2D6-59E204BD801F
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p:P557
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wd:statement/q337604-2485CF56-FE36-47AE-A10B-D9C24D4FC92F
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p:P6366
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wd:statement/Q337604-A7A0DF8A-CCB2-4AC0-BC08-069B52F64B06
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p:P646
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wd:statement/Q337604-383FA8B2-4491-4BE5-83AF-E721AC23C3AE
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p:P6532
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wd:statement/Q337604-02B41FCE-8FD9-4C99-AFD0-EB504E852000
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wd:statement/Q337604-3334B2E9-E304-4BF4-B2F3-855EE4CD06DB
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wd:statement/Q337604-3AB2E7CF-EB5A-4447-907F-727E36DF133D
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wd:statement/Q337604-3C5C38EB-20CE-4BA6-8E9C-ED0F6ACBDC0D
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wd:statement/Q337604-50B78060-FF32-4811-86BB-4406BD41C918
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wd:statement/Q337604-5660F1C4-7796-4F8A-93AD-3E5E1A09AEA7
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wd:statement/Q337604-5956BEEF-0EAE-45A7-8BDF-0504B455A963
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wd:statement/Q337604-5D641DAB-6E7B-4367-8057-0FC3D11475A3
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wd:statement/Q337604-60A14560-02AA-4A14-BD90-06188CD5A0C9
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wd:statement/Q337604-6218AAFD-A88E-41CE-A3A6-E98CC83FE6B8
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wd:statement/Q337604-956ABF60-865D-4BDC-9051-331056E10C8A
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wd:statement/Q337604-96857969-6DE2-40B9-A17A-9D751DAB167D
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wd:statement/Q337604-9C3FEFF4-3F91-4049-B32D-58B3A7F40238
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wd:statement/Q337604-B4ED7134-6BBB-4756-BE04-FC8BF994F1C3
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wd:statement/Q337604-BE67219C-C59F-472A-9A1C-0528ECA289FB
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wd:statement/Q337604-C91AEB60-7E22-4404-AC68-5093F1421080
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wd:statement/Q337604-C9DE9E58-869C-4107-83CD-F675857EF4E1
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wd:statement/Q337604-D3E48EB9-1292-431B-AD2B-8D1F1C6FE78F
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wd:statement/Q337604-F699F8D1-22FC-4E3A-80BA-1B0D4FE57368
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p:P665
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wd:statement/Q337604-45B98AE2-889D-4200-83F1-5A26210BDBFC
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p:P699
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wd:statement/Q337604-C8CF27C8-5BBC-455F-9AE1-89D0146B0E68
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p:P7464
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wd:statement/Q337604-B36DCE15-A3FD-426E-BC04-C3B0FB52C76A
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p:P7807
|
wd:statement/Q337604-6250dc9c-46fe-a0db-f99c-bdf598b0634b
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|
p:direct-normalized/P3201
|
<http://purl.bioontology.org/ontology/MDRFRE/10022983>
|
|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/C536004>
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|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0011426>
|
|
p:direct-normalized/P6366
|
<https://makg.org/entity/2779734066>
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|
p:direct-normalized/P665
|
<http://www.kegg.jp/entry/H02206>
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|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0050711>
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|
wdt:P11143
|
"Aceruloplasminemia"
|
|
wdt:P11430
|
"DI-00017"
|
|
wdt:P1193
|
0.000001^^xsd:decimal
|
|
wdt:P14914
|
"D48818"
|
|
wdt:P1550
|
"48818"
|
|
wdt:P1692
|
"277.6"
|
|
wdt:P1748
|
"C189281"
|
|
wdt:P1995
|
endocrinology
|
|
wdt:P2293
|
CP
|
|
wdt:P279
|
autosomal recessive disease
|
|
neurodegeneration with brain iron accumulation
|
|
hereditary retinal dystrophy
|
|
iron overload
|
|
constitutional anemia due to iron metabolism disorder
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|
metabolic disease with pigmentary retinitis
|
|
wdt:P2841
|
adult onset
|
|
late onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0050711>
|
|
<http://purl.obolibrary.org/obo/DOID_0050711>
|
|
<http://www.orpha.net/ORDO/Orphanet_48818>
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|
wdt:P2892
|
"C0878682"
|
|
"C1858583"
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|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P3201
|
"10022983"
|
|
wdt:P3841
|
"HP:0025498"
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|
wdt:P4229
|
"G23.0"
|
|
wdt:P4317
|
"9499"
|
|
wdt:P486
|
"C536004"
|
|
wdt:P492
|
"604290"
|
|
wdt:P493
|
"275.0"
|
|
wdt:P494
|
"E83.1"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0011426"
|
|
wdt:P557
|
"30055"
|
|
wdt:P6366
|
"2779734066"
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|
wdt:P646
|
"/m/097s6z"
|
|
wdt:P6532
|
diabetes
|
|
Abnormal corpus striatum morphology
|
|
Abnormal pancreas morphology
|
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copper deficiency
|
|
muscle rigidity
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parkinsonian syndrome
|
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cerebellar ataxia
|
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pathologic nystagmus
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ataxia
|
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tremor
|
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dysarthria
|
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macular degeneration
|
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retinal degeneration
|
|
apathy
|
|
aceruloplasminemia
|
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congenital torticollis
|
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akinesia
|
|
cognitive dysfunction
|
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nervous system malformations
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blepharospasm
|
|
dystonia
|
|
wdt:P665
|
"H02206"
|
|
wdt:P699
|
"DOID:0050711"
|
|
wdt:P7464
|
"aceruloplasminemia"
|
|
wdt:P7807
|
"688027972"
|