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rdfs:label
|
"Gomosisteinemiya"@uz-cyrl
"Gomosistinuriya"@uz
"Homocistinurija"@bs
"Homocistinurija"@lt
"Homocystinuria"@en-us
"Homocystinuria"@rup
"Homocystinurie"@de
"Homokystinuria"@fi
"Homosistinuriya"@az
"Homozistinuria"@eu
"homocistinuria"@es
"homocistinúria"@ca
"homocistinúria"@pt
"homocystinuri"@nn
"homocystinuri"@sv
"homocystinuria"@en
"homocystinurie"@cs
"homocystinurie"@fr
"homocystinurie"@nl
"homocystynuria"@pl
"omocistinuria"@it
"Гомоцистинурия"@tt
"Гомоцистинурія"@uk
"Хомоцистинурија"@mk
"Хомоцистинурија"@sr
"הומוציסטינוריה"@he
"بيلة هوموسيستينية"@ar
"هموسیستینوری"@fa
"ホモシスチン尿症"@ja
"高胱胺酸尿症"@zh
"호모시스틴뇨증"@ko
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|
skos:altLabel
|
"CBS deficiency"@en
"CBS-mangel"@nn
"HCU"@nn
"Homocystinuria"@en
"Homocystinuria (disorder)"@en
"cystathionine beta synthase deficiency"@en
"cystathionine synthase deficiency"@en
"cystationin-beta-syntasemangel"@nn
"cystationin-β-syntasemangel"@nn
|
|
schema:description
|
"Genetic disorder"@en-us
"Krankheit"@de
"Qon va siydikda gomosistein va metionin aminokislotalarining miqdori ortishi"@uz
"amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine"@en
"maladie métabolique héréditaire rare"@fr
"malattia rara, dovuta a un errore congenito del metabolismo"@it
"qon va siydikda gomosistein va metionin aminokislotalarining miqdori ortishi"@uz-cyrl
"trastorn del metabolisme dels aminoàcids"@ca
"uwarunkowana genetycznie choroba metaboliczna (metionina)"@pl
"хвороба"@uk
"一種遺傳疾病"@zh-hant
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schema:dateModified
|
"2026-10-24T00:14:24+00:00"^^xsd:dateTime
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schema:version
|
2560163814
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wikibase:identifiers
|
38
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|
40
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wikibase:sitelinks
|
26
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wikibase:statements
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63
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p:P10283
|
wd:statement/Q994859-97801A08-F5F8-48A7-9C39-22687F8DF081
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p:P11143
|
wd:statement/Q994859-E7923C64-02D1-4EE1-99FF-98B4ED345D96
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p:P1193
|
wd:statement/Q994859-F3700E84-4193-478D-84BE-CC4BCB8F33A0
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p:P13204
|
wd:statement/Q994859-DAAB6F2A-C341-44BC-8314-ED630048BB0E
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p:P1343
|
wd:statement/Q994859-8a5d4a33-4d04-d4bc-c2c8-9573a7e549a2
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p:P1417
|
wd:statement/Q994859-9E2FD289-B671-41F2-9B94-B3875F6A47BC
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p:P1461
|
wd:statement/Q994859-40709915-C2D9-46D5-B66D-C83E4E9C2A1C
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p:P14914
|
wd:statement/Q994859-004E6620-7D6B-4FE1-8528-48F17D4C33D3
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p:P1550
|
wd:statement/Q994859-B8ECA799-ECB7-4300-B8C4-E6611F985C9A
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p:P1748
|
wd:statement/Q994859-06EFBA3B-839B-4C72-AB6A-C2BD417C9746
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p:P18
|
wd:statement/Q994859-365C024E-0DB0-4C8C-A2A0-8529A5A5A3ED
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p:P1995
|
wd:statement/Q994859-5942F03B-9B71-487A-B329-486DF02FA05F
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|
wd:statement/Q994859-da05a833-4d30-af55-43c8-28f2b368909d
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p:P2176
|
wd:statement/Q994859-28C5CDA7-B9E1-493A-8163-C1F066178945
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p:P2293
|
wd:statement/Q994859-BCE0B9CC-2B7D-4ED4-B798-1C5889EF55E4
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p:P279
|
wd:statement/Q994859-2996D49F-C454-408D-B3B8-CD4EFF815A3E
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|
wd:statement/Q994859-736A7EE5-A74B-408E-97C5-45E775DDD8E4
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wd:statement/Q994859-99a1156f-43b9-93a2-f160-e542dc20f78c
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p:P2841
|
wd:statement/Q994859-28F402E4-5092-42C8-B37F-D103064531B4
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|
wd:statement/Q994859-AC1BD34D-8EFE-427C-8555-634D3787A43E
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|
wd:statement/Q994859-B72B98E8-DCCD-4E0F-B1E7-ACD416731E82
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p:P2888
|
wd:statement/Q994859-2D89A5CB-4955-44D6-BBF8-352EFCA079E3
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|
wd:statement/Q994859-77804E6E-FE0B-4699-9E7A-5A7417891E92
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wd:statement/Q994859-901BCD9B-4787-49C4-BC0D-FB61559B6CCF
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wd:statement/Q994859-A0001FC6-8BDE-4EC1-8F3F-534B8D65462A
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p:P2892
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wd:statement/Q994859-18A8319B-721C-4A61-A13C-D46C53AAAC9E
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|
wd:statement/Q994859-7FF31F1B-E670-438F-A83B-1A3CD11F69B5
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p:P31
|
wd:statement/Q994859-2D0813E5-71D0-4FEC-8E9F-4BB3BA46255C
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|
wd:statement/Q994859-B5FC0FB9-A335-40CF-8423-1DCB5717CE05
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p:P373
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wd:statement/Q994859-085F4E10-AF63-454B-A7AD-4420093321C9
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p:P3827
|
wd:statement/Q994859-9E2C4E11-BAD4-4140-BEDE-4D9FA2400E43
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p:P3841
|
wd:statement/Q994859-0B372252-6258-4EFC-97F2-6A14F4D525D6
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p:P4229
|
wd:statement/Q994859-4ED7EAD0-5F38-40A8-A0EE-BB24134F67F3
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p:P4233
|
wd:statement/Q994859-4de7cc15-4b28-8e75-1aae-8a9953ad94dc
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p:P4317
|
wd:statement/Q994859-DE5996D0-271C-4C53-AE38-EFFE126D59DF
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p:P486
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wd:statement/Q994859-F6794703-0902-4152-A624-7818558073BB
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p:P492
|
wd:statement/Q994859-380C09E8-738C-4C64-8229-A76E6D60CA60
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|
wd:statement/q994859-12578202-E225-4144-BD1A-2A5C1FBC1D3E
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p:P493
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wd:statement/q994859-F0D6A565-E014-40B8-8709-F1CBF030C68D
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p:P5008
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wd:statement/Q994859-94982335-D011-4390-8C54-FDBFBF9D3869
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p:P5082
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wd:statement/Q994859-1820a3c7-a3fa-4563-9238-9157d297588a
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p:P5270
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wd:statement/Q994859-389A0FF1-377C-4193-928B-77C420642181
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p:P557
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wd:statement/q994859-AD061EEA-3AA5-4501-80A3-BB3FEC1A219F
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p:P5806
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wd:statement/Q994859-8C192787-D570-44B0-B714-261AAAA90166
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p:P604
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wd:statement/q994859-6B538DE6-DF53-4EF5-8707-E9ED0467DE26
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p:P6366
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wd:statement/Q994859-2CC81A58-F18D-4295-A6B7-5D54D6E58B78
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p:P646
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wd:statement/Q994859-69166722-0FF5-4104-AD38-75DFF052CFEB
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p:P6532
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wd:statement/Q994859-422D4AD6-7A31-4E71-8375-882F480BD335
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|
wd:statement/Q994859-4F2CD15E-9732-4B0E-A067-7EDECBC08204
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p:P665
|
wd:statement/Q994859-4C5629A8-7CCB-4417-BDB6-F586F31D1A0A
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p:P668
|
wd:statement/q994859-9C79E301-6228-465B-A7F2-55A77C630E0D
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p:P672
|
wd:statement/Q994859-40276D14-46A0-46FE-A5E5-57B81AA480F0
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|
wd:statement/Q994859-5B00D94B-BD66-45B8-8BC0-B38649DD4872
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wd:statement/Q994859-7C7BC601-F484-4B0F-9BD0-A2D2DBF41B39
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wd:statement/Q994859-83BE650D-26CB-467F-B1EC-40416A9ED7F9
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wd:statement/Q994859-C974FB58-9835-41EF-9764-55D251D8C7F9
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wd:statement/Q994859-F7CC9E5A-ACAB-4B3F-97C6-43ECE5EC6626
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wd:statement/Q994859-F86B68CA-422A-4DEE-8381-7F675BDB7479
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p:P673
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wd:statement/q994859-A9792D06-FAE1-42CC-9898-44D75D840C96
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p:P691
|
wd:statement/Q994859-717779B5-D3ED-4595-97CB-2167C15792B6
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p:P699
|
wd:statement/Q994859-106472FC-D0EF-4814-A20B-7B1EEF14FA25
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p:P7464
|
wd:statement/Q994859-6CF09F3E-F5D6-4D3D-AFCB-5721C8D55012
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p:P7995
|
wd:statement/Q994859-630F8B39-EEB0-4424-A7BB-9F3B7CF38723
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|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/D006712>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0004737>
|
|
p:direct-normalized/P5806
|
<http://snomed.info/id/11282001>
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|
p:direct-normalized/P6366
|
<https://makg.org/entity/2909143356>
|
|
p:direct-normalized/P665
|
<http://www.kegg.jp/entry/H00183>
|
|
p:direct-normalized/P672
|
<http://id.nlm.nih.gov/mesh/C10.228.140.163.100.365>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.565.100.480.500>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.565.189.365>
|
|
<http://id.nlm.nih.gov/mesh/C17.300.428>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.132.100.365>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.648.100.480.500>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.648.189.365>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:9263>
|
|
wdt:P10283
|
"C2779375456"
|
|
wdt:P11143
|
"Homocystinuria"
|
|
wdt:P1193
|
0.00005^^xsd:decimal
|
|
wdt:P13204
|
"vus9aa4c"
|
|
wdt:P1343
|
The Unified Medical Dictionary (Librairie du Liban, 2009)
|
|
wdt:P1417
|
"science/homocystinuria"
|
|
wdt:P1461
|
"homocystinuria"
|
|
wdt:P14914
|
"D00394"
|
|
wdt:P1550
|
"394"
|
|
wdt:P1748
|
"C84765"
|
|
wdt:P18
|
<http://commons.wikimedia.org/wiki/Special:FilePath/L-Homocysteine.svg>
|
|
wdt:P1995
|
medical genetics
|
|
endocrinology
|
|
wdt:P2176
|
betaine
|
|
wdt:P2293
|
CBS
|
|
wdt:P279
|
sulfuraminoacidemia
|
|
wdt:P2841
|
childhood onset
|
|
juvenile onset
|
|
adult onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:9263>
|
|
<http://purl.obolibrary.org/obo/DOID_9263>
|
|
<http://purl.obolibrary.org/obo/HP_0002156>
|
|
<http://www.orpha.net/ORDO/Orphanet_394>
|
|
wdt:P2892
|
"C0019880"
|
|
"C0751202"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P373
|
"Homocystinuria"
|
|
wdt:P3827
|
"homocystinuria"
|
|
wdt:P3841
|
"HP:0002156"
|
|
wdt:P4229
|
"E72.11"
|
|
wdt:P4233
|
"homocystinuria"
|
|
wdt:P4317
|
"10770"
|
|
wdt:P486
|
"D006712"
|
|
wdt:P492
|
"236200"
|
|
"236250"
|
|
wdt:P493
|
"270.4"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5082
|
"homocystinuri"
|
|
wdt:P5270
|
"MONDO_0004737"
|
|
wdt:P557
|
"5991"
|
|
wdt:P5806
|
"11282001"
|
|
wdt:P604
|
"001199"
|
|
wdt:P6366
|
"2909143356"
|
|
wdt:P646
|
"/m/030sd6"
|
|
wdt:P6532
|
failure to thrive
|
|
dolichostenomelia
|
|
wdt:P665
|
"H00183"
|
|
wdt:P668
|
"NBK1524"
|
|
wdt:P672
|
"C10.228.140.163.100.365"
|
|
"C16.320.565.100.480.500"
|
|
"C16.320.565.189.365"
|
|
"C17.300.428"
|
|
"C18.452.132.100.365"
|
|
"C18.452.648.100.480.500"
|
|
"C18.452.648.189.365"
|
|
wdt:P673
|
"1115062"
|
|
wdt:P691
|
"ph180722"
|
|
wdt:P699
|
"DOID:9263"
|
|
wdt:P7464
|
"homocystinuria"
|
|
wdt:P7995
|
"homocystinuria"
|
