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rdfs:label
|
"Argininemia"@fi
"Argininemia"@pl
"argininemia"@en
"argininemia"@es
"argininemia"@nl
"argininemia"@pt
"argininémie"@fr
"ariginasbrist"@sv
"آرژینینمی"@fa
"فرط أرجينين الدم"@ar
"精氨酸酶缺乏症"@zh
"精氨酸酶缺乏症"@zh-cn
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skos:altLabel
|
"Arg1 Deficiency"@en
"Arginase deficiency"@en
"Arginase deficiency (disorder)"@en
"Argininemie"@fr
"deficiencia de arginasas"@es
"deficiency of canavanase"@en
"hyperargininemia"@en
"فرط أرجنين الدم"@ar
"精氨酸血症"@zh
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schema:description
|
"Krankheit"@de
"enfermedad relacionada con el metabolismo de los aminoácidos"@es
"rzadka wada wrodzona"@pl
"urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine"@en
"хвороба"@uk
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schema:dateModified
|
"2026-10-24T00:40:59+00:00"^^xsd:dateTime
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schema:version
|
2560167947
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wikibase:identifiers
|
23
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|
25
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wikibase:sitelinks
|
8
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wikibase:statements
|
52
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p:P11143
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wd:statement/Q890367-B02F88B8-CEF7-4FB9-B5A5-E4D30BE4E14E
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p:P11430
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wd:statement/Q890367-da268c36-4874-1d83-572e-7a6838a84a98
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p:P1193
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wd:statement/Q890367-112909EC-A545-48FF-8A71-77C813C0EE72
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wd:statement/Q890367-E8D22BA0-269E-4758-8D50-3BCFEE04EB4A
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p:P1748
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wd:statement/Q890367-6D6EB060-6BE1-4657-BA29-C83DB2E77A3B
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wd:statement/Q890367-2A190C58-EB3A-4CF5-BEF5-BDF9492E42EF
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p:P2293
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wd:statement/Q890367-1A3C0F29-EAEB-441C-A50F-1A61E7AAD134
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p:P279
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wd:statement/Q890367-11DE3BC8-DA62-4D8C-BFB2-59DABD161DF9
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p:P2841
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wd:statement/Q890367-32C269B3-B28D-4C21-8EFA-1C38C86AA908
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wd:statement/Q890367-8FE87A7D-17CC-4196-8107-9067E91E1C2B
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p:P2888
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wd:statement/Q890367-1983DA2A-0F62-4A26-ABA9-51314A35C1CD
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wd:statement/Q890367-5C1E64EA-948A-4505-825A-3F7F59D7BFBB
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wd:statement/Q890367-F541268E-12C5-480B-A468-39759CAF67F7
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p:P2892
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wd:statement/Q890367-D180A4D8-33C5-4E6C-83F5-A1B93BA8219D
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p:P31
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wd:statement/Q890367-5C0F7CD3-A50E-4916-A912-C959CC813E5C
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wd:statement/Q890367-DEC52398-B8A3-46E2-9E72-C9D286C36541
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p:P4229
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wd:statement/Q890367-635E9CF0-5621-43B5-B412-E9352AE906B4
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wd:statement/Q890367-E6E7BB50-2815-4303-B620-67EE34D3D9E4
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p:P4317
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wd:statement/Q890367-8534C499-7E9B-4FED-A46F-A03E09707806
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p:P486
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wd:statement/Q890367-D60DBBFE-33FB-4FB8-8310-B19E592860B6
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p:P492
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wd:statement/Q890367-0D6DFAD5-537D-452F-B825-0F49863ED55C
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p:P5008
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wd:statement/Q890367-828677D5-B2BE-4F83-A651-5B7F7046BCB6
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p:P5270
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wd:statement/Q890367-27DAE66E-E859-4252-8C84-C70476B2047A
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p:P557
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wd:statement/Q890367-DF87FD8D-03F9-43B0-8C09-DC99413F535F
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p:P6366
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wd:statement/Q890367-0A052850-60F1-4FD1-A6AC-54757DE25428
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wd:statement/Q890367-519A45D2-77A2-4271-BAB5-625A9BC2F711
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p:P6532
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wd:statement/Q890367-203D7FC3-3023-431F-B423-9C87F544E765
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wd:statement/Q890367-2D6A0560-89F4-477F-A325-0964A0A427CC
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wd:statement/Q890367-3179A7C0-8813-4724-B645-1BF9F09D52DA
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wd:statement/Q890367-31D3477A-8F1F-4E2F-94A7-7FED8463A5E1
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wd:statement/Q890367-43F6ADD7-2DF6-4E35-9039-198E9976008D
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wd:statement/Q890367-4D02E8E6-2237-43BE-A2FC-43B7E6D4F37C
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wd:statement/Q890367-5424D03D-2F36-4A54-A072-FBDA3E14B070
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wd:statement/Q890367-96BD06A5-DF39-4A3A-8432-9309FF7FDEB2
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wd:statement/Q890367-B804678C-42E1-4EC3-9CC8-88501E78CF1F
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wd:statement/Q890367-BC909990-CF1A-417E-AA48-C120E0F6203C
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wd:statement/Q890367-DF339386-080F-497A-81E5-324688C0B194
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wd:statement/Q890367-F6F52EB9-ED38-425A-8BAF-234778ADA795
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wd:statement/Q890367-FD4960A9-71FF-4FA0-8BAB-CEADD4281BCE
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p:P665
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wd:statement/Q890367-630D1BC0-A106-4715-95BB-A385455BB01D
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p:P672
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wd:statement/Q890367-339C271F-A197-4984-B2C8-F3D0E8CEAF78
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wd:statement/Q890367-38A916EB-1A8D-4D65-8F06-156930F156CC
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wd:statement/Q890367-4156E50A-3CD4-40C1-96C8-97EA24A1C3C0
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wd:statement/Q890367-83E3CE31-3726-4DEB-B186-C929B210A439
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wd:statement/Q890367-9D18BD7B-C9EE-490C-846B-F6FA93CE4AF1
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wd:statement/Q890367-BDEADD27-3E22-4ADB-B31E-279B4AB86841
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p:P699
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wd:statement/Q890367-4D3ABB7E-4792-4508-97B7-12D463BB26D3
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p:P7329
|
wd:statement/Q890367-75015322-CD95-4178-9CBE-76AA8BB2B87E
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|
p:P7807
|
wd:statement/Q890367-76AC7160-EF14-4373-A59C-9795A6D445FE
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|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/D020162>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0008814>
|
|
p:direct-normalized/P6366
|
<https://makg.org/entity/2780163581>
|
|
<https://makg.org/entity/2910728524>
|
|
p:direct-normalized/P665
|
<http://www.kegg.jp/entry/H00186>
|
|
p:direct-normalized/P672
|
<http://id.nlm.nih.gov/mesh/C10.228.140.163.100.937.500>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.565.100.940.500>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.565.189.937.500>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.132.100.937.437>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.648.100.940.437>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.648.189.937.437>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:9278>
|
|
wdt:P11143
|
"Argininemia"
|
|
wdt:P11430
|
"DI-00132"
|
|
wdt:P1193
|
0.000001^^xsd:decimal
|
|
wdt:P14914
|
"D00090"
|
|
wdt:P1550
|
"90"
|
|
wdt:P1748
|
"C84568"
|
|
wdt:P1995
|
medical genetics
|
|
endocrinology
|
|
neurology
|
|
wdt:P2293
|
ARG1
|
|
wdt:P279
|
urea cycle disorder
|
|
wdt:P2841
|
infantile onset
|
|
childhood onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:9278>
|
|
<http://purl.obolibrary.org/obo/DOID_9278>
|
|
<http://www.orpha.net/ORDO/Orphanet_90>
|
|
wdt:P2892
|
"C0268548"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P4229
|
"E72.2"
|
|
"E72.21"
|
|
wdt:P4317
|
"5840"
|
|
wdt:P486
|
"D020162"
|
|
wdt:P492
|
"207800"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0008814"
|
|
wdt:P557
|
"29677"
|
|
wdt:P6366
|
"2780163581"
|
|
"2910728524"
|
|
wdt:P6532
|
cholestasis
|
|
Severe mental retardation
|
|
speech disorder
|
|
hepatomegaly
|
|
Micronodular cirrhosis
|
|
Frequent falls
|
|
childhood onset
|
|
global developmental delay
|
|
electroencephalography abnormalities
|
|
cerebellar atrophy
|
|
behavioral abnormality
|
|
seizure
|
|
gait abnormality
|
|
wdt:P665
|
"H00186"
|
|
wdt:P672
|
"C10.228.140.163.100.937.500"
|
|
"C16.320.565.100.940.500"
|
|
"C16.320.565.189.937.500"
|
|
"C18.452.132.100.937.437"
|
|
"C18.452.648.100.940.437"
|
|
"C18.452.648.189.937.437"
|
|
wdt:P699
|
"DOID:9278"
|
|
wdt:P7329
|
"5C50.A2"
|
|
wdt:P7807
|
"1619102598"
|