|
rdfs:label
|
"Déficit de OCT"@es
"OTC urritasun"@eu
"Ornitiinitranskarbamylaasin puutos"@fi
"Ornitin Transkarmabilaz yetmezliği"@tr
"deficiência da ornitina transcarbamilase"@pt
"déficit en ornithine carbamyl transférase"@fr
"niedobór karbamoilotransferazy ornitynowej"@pl
"ornithine carbamoyltransferase deficiency"@en
"عوز الأورنيثين ناقل الكربامويل"@ar
"نقص اورنیتین ترانس کاربامیلاز"@fa
"鳥氨酸氨甲酰基轉移酶缺乏症"@zh
"鳥氨酸氨甲酰基轉移酶缺乏症"@zh-hans
"鳥氨酸氨甲醯基轉移酶缺乏症"@zh-hant
|
|
skos:altLabel
|
"Deficit de OCT"@es
"Deficit en ornithine carbamyl transferase"@fr
"Déficit En Ornithine Carbamyl Transférase"@fr
"Déficit en ornithine transcarbamylase"@fr
"OCT deficiency"@en
"ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO"@en
"OTC urritasuna"@eu
"Ornithine Carbamoyltransferase Deficiency"@en
"Ornithine Carbamoyltransferase Deficiency Disease"@en
"Otc Deficiency"@en
"Transcarbamilase"@pt
"Valproate Sensitivity"@en
"deficiency of citrulline phosphorylase"@en
"niedobór OCT"@pl
"niedobór transkarbamoilazy ornitynowej"@pl
"ornithine transcarbamylase deficiency"@en
|
|
schema:description
|
"Krankheit"@de
"choroba"@pl
"maladie de Gilber"@fr
"urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase"@en
"хвороба"@uk
|
|
schema:dateModified
|
"2026-10-24T00:29:52+00:00"^^xsd:dateTime
|
|
schema:version
|
2560166327
|
|
wikibase:identifiers
|
30
|
|
32
|
|
wikibase:sitelinks
|
10
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|
wikibase:statements
|
65
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|
p:P10283
|
wd:statement/Q3043161-1DD86DB7-A99E-4F27-A4A2-CEFF4304F10A
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|
p:P11143
|
wd:statement/Q3043161-A14672B9-D8A8-4E18-A9E0-CFC6C63351FD
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|
p:P11430
|
wd:statement/Q3043161-16e99492-47d4-dde7-fbc5-18e8180ef2ca
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p:P1193
|
wd:statement/Q3043161-4A168B6C-F96E-4389-A27F-8D8D6F17C0AF
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|
p:P11956
|
wd:statement/Q3043161-649879BF-30B7-404A-AA4F-B4960FD8C703
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|
p:P1417
|
wd:statement/Q3043161-3EC1C146-4150-4369-8616-C5BCB0161E64
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p:P14914
|
wd:statement/Q3043161-8735CAE7-F759-4E94-8B86-5013FF22B8F6
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|
p:P1550
|
wd:statement/Q3043161-78BE70E1-9A40-4E25-98A3-480BFF40DD56
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|
p:P1748
|
wd:statement/Q3043161-8523E82F-3B34-48B1-B2E1-50DFD6086B04
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|
p:P1995
|
wd:statement/Q3043161-0bc1377c-4c6f-1ec5-8c64-3a22ef57da80
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|
wd:statement/Q3043161-D4A7ADAC-7C1D-40DC-8BC1-99BFFC5F9E79
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|
wd:statement/Q3043161-bafea36f-4a2c-ece7-3d62-89918afb2415
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|
p:P2293
|
wd:statement/Q3043161-95E33887-1D17-42D5-9526-1DCBA3B54223
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|
p:P279
|
wd:statement/Q3043161-0264FE51-B79F-4CBE-8323-5F0977DC75C4
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|
wd:statement/Q3043161-04bff661-4ba2-d2cb-48da-3ef41a7cb902
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|
wd:statement/Q3043161-D7D23AD5-C49D-49D3-B8ED-66A6B9040316
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|
p:P2841
|
wd:statement/Q3043161-51771B0F-271F-4182-98D8-C42FF0A7BDB1
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|
p:P2888
|
wd:statement/Q3043161-5EEA5F7B-5E48-4151-96E4-462AA4D53270
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|
wd:statement/Q3043161-68BBC132-C671-46A6-9719-4E0BBCD354B2
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|
p:P2892
|
wd:statement/Q3043161-123BF87F-7EC3-42DD-A79E-2A5BEB49EF27
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|
wd:statement/Q3043161-995F06C7-329E-4131-AA57-EB5449D4D6E3
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|
p:P31
|
wd:statement/Q3043161-8db8273c-4ab9-d452-11ed-f99abfe89730
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|
wd:statement/Q3043161-C7C54A2B-0840-4F32-8C16-0C8B376FA1F0
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|
wd:statement/Q3043161-E7279DC8-F3B1-464D-BEC1-496AFC64DE77
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|
p:P4229
|
wd:statement/Q3043161-C842B296-429A-4129-AEE2-B1250C507839
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|
p:P4317
|
wd:statement/Q3043161-D7C61F99-C4E2-4D23-9EA7-E84DE4454283
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|
p:P4527
|
wd:statement/Q3043161-38415c06-46b0-1127-05e2-7a60f6516b5c
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|
p:P486
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wd:statement/Q3043161-F6CB36EE-661B-4C1E-B9BA-5E5177AB4369
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|
p:P492
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wd:statement/Q3043161-759F9118-4427-43A2-AF92-34914BE5BC8A
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|
p:P493
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wd:statement/q3043161-2F7B1475-9CE8-49A1-BB89-8D5897D7A514
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|
p:P5008
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wd:statement/Q3043161-CA0CF5A8-3098-4AB0-8CE4-C23F58F2712B
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|
p:P5270
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wd:statement/Q3043161-2D8ED4C7-1875-4B23-83C6-F1120526707F
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|
p:P557
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wd:statement/q3043161-918AB22C-F321-40C3-AC5F-08EEB4C3C310
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|
p:P604
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wd:statement/q3043161-A5559954-3793-4149-9C7B-7053838D7FA4
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|
p:P6366
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wd:statement/Q3043161-40FE080C-8A77-4DC3-A655-4D7A18B00D19
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|
wd:statement/Q3043161-97A616FA-19AF-4DED-8872-268715FCCCC0
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|
p:P6532
|
wd:statement/Q3043161-1416DA22-62A5-4099-B136-62C6CBFA0593
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|
wd:statement/Q3043161-16CDBDDC-F348-4CF7-A485-1675A336C13A
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|
wd:statement/Q3043161-170E8D0D-7D65-432A-8134-18E15D47B9E9
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|
wd:statement/Q3043161-47E96FFC-CDE5-48A3-A97B-6F796DFDE2D2
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|
wd:statement/Q3043161-4B29501B-18E8-4D0F-864F-EA1EF2545038
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|
wd:statement/Q3043161-62CA6679-4AE6-4C62-9828-8D8B7D6F10E7
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|
wd:statement/Q3043161-65CCF3B3-CD4A-4D62-8665-D6A8BF803DFE
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wd:statement/Q3043161-8D8B330A-DD44-40E6-AC51-F1477C35786F
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|
wd:statement/Q3043161-8D962C90-EFAF-4169-90B3-81A55A2572EF
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wd:statement/Q3043161-9A318B62-69AD-4EBC-91FC-D4BF67EB5CAC
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|
wd:statement/Q3043161-B5081DFE-1A22-4E4A-BF1B-BC971E48E6B2
|
|
wd:statement/Q3043161-B897133F-E587-44E7-A687-41226D7DE472
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|
wd:statement/Q3043161-CD6F7CCD-F1BA-4361-9FFB-0242176CE70D
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|
wd:statement/Q3043161-F721B164-C60F-413B-A935-7ECDD886CBC6
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|
wd:statement/Q3043161-F8CF167A-6846-442D-B3A4-AA4EF0A32A33
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|
wd:statement/Q3043161-FB8AEA71-226B-41F6-9F96-17359A37C219
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wd:statement/Q3043161-FEA472B9-20FD-419E-8B1F-215B158D269E
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|
wd:statement/Q3043161-FEAD24C9-57EC-4920-8DC6-8C3DC3DCD70C
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p:P665
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wd:statement/Q3043161-20B08BFC-4521-4054-AD7C-8D5A13E7369A
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|
p:P672
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wd:statement/Q3043161-0AD4DBB4-E70A-420B-AC6C-640A77D7D86E
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wd:statement/Q3043161-1F9460A0-5806-4CB6-BA46-B64A5E71A5E5
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wd:statement/Q3043161-78A55CF7-80FB-4679-A80B-2B52609B7A3D
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|
wd:statement/Q3043161-8178672D-E910-4D04-BAB4-A90423FE417F
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wd:statement/Q3043161-C4766FAE-90C1-4403-8840-F42F2D30855C
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wd:statement/Q3043161-CF233F47-54F1-49D9-813B-F1D032A27186
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|
wd:statement/Q3043161-D7B4F12A-2536-43C5-BEC5-0C236F648E40
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p:P673
|
wd:statement/q3043161-FEE242F4-3FB8-49FE-AD53-F1B804A155CB
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|
p:P699
|
wd:statement/Q3043161-F6E3068A-596B-4D59-82BB-26BE276CCB85
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|
p:P7464
|
wd:statement/Q3043161-95A4F0EF-268A-4518-98A3-FDEBAB147559
|
|
p:direct-normalized/P4527
|
<http://data.parliament.uk/terms/529346>
|
|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/D020163>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0010703>
|
|
p:direct-normalized/P6366
|
<https://makg.org/entity/2780469793>
|
|
<https://makg.org/entity/2910125208>
|
|
p:direct-normalized/P665
|
<http://www.kegg.jp/entry/H00187>
|
|
p:direct-normalized/P672
|
<http://id.nlm.nih.gov/mesh/C10.228.140.163.100.937.750>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.322.828>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.565.100.940.750>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.565.189.937.750>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.132.100.937.500>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.648.100.940.500>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.648.189.937.500>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:9271>
|
|
wdt:P10283
|
"C2780469793"
|
|
wdt:P11143
|
"Ornithine transcarbamylase deficiency"
|
|
wdt:P11430
|
"DI-00883"
|
|
wdt:P1193
|
0.00005^^xsd:decimal
|
|
wdt:P11956
|
"0007409"
|
|
wdt:P1417
|
"topic/ornithine-transcarbamylase-deficiency"
|
|
wdt:P14914
|
"D00664"
|
|
wdt:P1550
|
"664"
|
|
wdt:P1748
|
"C84957"
|
|
wdt:P1995
|
metabolic syndrome
|
|
wdt:P2293
|
OTC
|
|
wdt:P279
|
urea cycle disorder
|
|
syndromic neurometabolic disease with X-linked intellectual disability
|
|
metabolic syndrome
|
|
wdt:P2841
|
any age
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:9271>
|
|
<http://purl.obolibrary.org/obo/DOID_9271>
|
|
wdt:P2892
|
"C0268542"
|
|
"C1839530"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P4229
|
"E72.4"
|
|
wdt:P4317
|
"8391"
|
|
wdt:P4527
|
"529346"
|
|
wdt:P486
|
"D020163"
|
|
wdt:P492
|
"311250"
|
|
wdt:P493
|
"270.6"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0010703"
|
|
wdt:P557
|
"9286"
|
|
wdt:P604
|
"000372"
|
|
wdt:P6366
|
"2780469793"
|
|
"2910125208"
|
|
wdt:P6532
|
decreased sucking
|
|
hypothermia
|
|
splenomegaly
|
|
Protein avoidance
|
|
failure to thrive
|
|
anxiety
|
|
delirium
|
|
attention deficit hyperactivity disorder
|
|
respiratory alkalosis
|
|
hypoglycemia
|
|
specific learning disability
|
|
elevated transaminases
|
|
anorexia
|
|
conjugated hyperbilirubinemia
|
|
sleep
|
|
depression
|
|
aminoaciduria
|
|
liver failure
|
|
wdt:P665
|
"H00187"
|
|
wdt:P672
|
"C10.228.140.163.100.937.750"
|
|
"C16.320.322.828"
|
|
"C16.320.565.100.940.750"
|
|
"C16.320.565.189.937.750"
|
|
"C18.452.132.100.937.500"
|
|
"C18.452.648.100.940.500"
|
|
"C18.452.648.189.937.500"
|
|
wdt:P673
|
"950672"
|
|
wdt:P699
|
"DOID:9271"
|
|
wdt:P7464
|
"ornithine-transcarbamylase-deficiency"
|