@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:Q7109017 rdfs:label "Otospondilomegaepifizna displazija"@bs,
        "Oto-spondylo-megaepiphysäre Dysplasie"@de,
        "otospondylomegaepiphyseal dysplasia"@en,
        "dysplasie oto-spondylo-mégaépiphysaire"@fr,
        "Displasia oto-espondilo-megaepifisária"@pt,
        "Displasia oto-espondilo-megaepifisária"@pt-br ;
    schema1:dateModified "2026-10-23T23:25:03+00:00"^^xsd:dateTime ;
    schema1:description "Krankheit"@de,
        "osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss"@en,
        "хвороба"@uk ;
    schema1:version 2560154300 ;
    wikibase:identifiers 15 ;
    wikibase:sitelinks 3 ;
    wikibase:statements 41 ;
    skos:altLabel "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS"@en,
        "NANCE-INSLEY SYNDROME"@en,
        "NANCE-SWEENEY CHONDRODYSPLASIA"@en,
        "OSMED"@en,
        "OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA"@en,
        "OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED"@en,
        "otospondylomegaepiphyseal dysplasia, autosomal recessive"@en,
        "OSMED"@fr ;
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    wdtn:P5270 <http://purl.obolibrary.org/obo/MONDO_0008975> ;
    wdtn:P6366 <https://makg.org/entity/2777500591> ;
    wdtn:P665 <http://www.kegg.jp/entry/H02079> ;
    wdtn:P699 <http://purl.obolibrary.org/obo/DOID_DOID:0080026> ;
    wdt:P11143 "Otospondylomegaepiphyseal dysplasia" ;
    wdt:P1193 0.000001 ;
    wdt:P14914 "D01427" ;
    wdt:P1550 "1427" ;
    wdt:P1692 "759.89" ;
    wdt:P1995 wd:Q1071953 ;
    wdt:P2293 wd:Q14877681,
        wd:Q17908457 ;
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        wd:Q3251367,
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        <http://purl.obolibrary.org/obo/DOID_0080026>,
        <http://www.orpha.net/ORDO/Orphanet_1427> ;
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        "C4520892" ;
    wdt:P31 wd:Q112193867,
        wd:Q929833 ;
    wdt:P4229 "Q77.7" ;
    wdt:P4317 "4130" ;
    wdt:P492 "215150" ;
    wdt:P494 "Q77.7" ;
    wdt:P5008 wd:Q4099686 ;
    wdt:P5270 "MONDO_0008975" ;
    wdt:P557 "32024" ;
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    wdt:P6532 wd:Q141816317,
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        wd:Q55788825,
        wd:Q62736 ;
    wdt:P665 "H02079" ;
    wdt:P699 "DOID:0080026" ;
    wdt:P7464 "otospondylomegaepiphyseal-dysplasia" .

