@prefix p: <http://www.wikidata.org/prop/> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix schema1: <http://schema.org/> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix wd: <http://www.wikidata.org/entity/> .
@prefix wds: <http://www.wikidata.org/entity/statement/> .
@prefix wdt: <http://www.wikidata.org/prop/direct/> .
@prefix wdtn: <http://www.wikidata.org/prop/direct-normalized/> .
@prefix wikibase: <http://wikiba.se/ontology#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

wd:Q994859 rdfs:label "بيلة هوموسيستينية"@ar,
        "Homosistinuriya"@az,
        "Homocistinurija"@bs,
        "homocistinúria"@ca,
        "homocystinurie"@cs,
        "Homocystinurie"@de,
        "homocystinuria"@en,
        "Homocystinuria"@en-us,
        "homocistinuria"@es,
        "Homozistinuria"@eu,
        "هموسیستینوری"@fa,
        "Homokystinuria"@fi,
        "homocystinurie"@fr,
        "הומוציסטינוריה"@he,
        "omocistinuria"@it,
        "ホモシスチン尿症"@ja,
        "호모시스틴뇨증"@ko,
        "Homocistinurija"@lt,
        "Хомоцистинурија"@mk,
        "homocystinurie"@nl,
        "homocystinuri"@nn,
        "homocystynuria"@pl,
        "homocistinúria"@pt,
        "Homocystinuria"@rup,
        "Хомоцистинурија"@sr,
        "homocystinuri"@sv,
        "Гомоцистинурия"@tt,
        "Гомоцистинурія"@uk,
        "Gomosistinuriya"@uz,
        "Gomosisteinemiya"@uz-cyrl,
        "高胱胺酸尿症"@zh ;
    schema1:dateModified "2026-10-24T00:14:24+00:00"^^xsd:dateTime ;
    schema1:description "trastorn del metabolisme dels aminoàcids"@ca,
        "Krankheit"@de,
        "amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine"@en,
        "Genetic disorder"@en-us,
        "maladie métabolique héréditaire rare"@fr,
        "malattia rara, dovuta a un errore congenito del metabolismo"@it,
        "uwarunkowana genetycznie choroba metaboliczna (metionina)"@pl,
        "хвороба"@uk,
        "Qon va siydikda gomosistein va metionin aminokislotalarining miqdori ortishi"@uz,
        "qon va siydikda gomosistein va metionin aminokislotalarining miqdori ortishi"@uz-cyrl,
        "一種遺傳疾病"@zh-hant ;
    schema1:version 2560163814 ;
    wikibase:identifiers 38,
        40 ;
    wikibase:sitelinks 26 ;
    wikibase:statements 63 ;
    skos:altLabel "CBS deficiency"@en,
        "Homocystinuria"@en,
        "Homocystinuria (disorder)"@en,
        "cystathionine beta synthase deficiency"@en,
        "cystathionine synthase deficiency"@en,
        "CBS-mangel"@nn,
        "HCU"@nn,
        "cystationin-beta-syntasemangel"@nn,
        "cystationin-β-syntasemangel"@nn ;
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    wdtn:P5270 <http://purl.obolibrary.org/obo/MONDO_0004737> ;
    wdtn:P5806 <http://snomed.info/id/11282001> ;
    wdtn:P6366 <https://makg.org/entity/2909143356> ;
    wdtn:P665 <http://www.kegg.jp/entry/H00183> ;
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        <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> ;
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    wdt:P10283 "C2779375456" ;
    wdt:P11143 "Homocystinuria" ;
    wdt:P1193 0.00005 ;
    wdt:P13204 "vus9aa4c" ;
    wdt:P1343 wd:Q113466993 ;
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    wdt:P1461 "homocystinuria" ;
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    wdt:P1550 "394" ;
    wdt:P1748 "C84765" ;
    wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/L-Homocysteine.svg> ;
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        <http://www.orpha.net/ORDO/Orphanet_394> ;
    wdt:P2892 "C0019880",
        "C0751202" ;
    wdt:P31 wd:Q112193867,
        wd:Q929833 ;
    wdt:P373 "Homocystinuria" ;
    wdt:P3827 "homocystinuria" ;
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    wdt:P492 "236200",
        "236250" ;
    wdt:P493 "270.4" ;
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    wdt:P5082 "homocystinuri" ;
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    wdt:P604 "001199" ;
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        "C16.320.565.100.480.500",
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        "C18.452.648.100.480.500",
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    wdt:P691 "ph180722" ;
    wdt:P699 "DOID:9263" ;
    wdt:P7464 "homocystinuria" ;
    wdt:P7995 "homocystinuria" .

