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Statements

Subject Item
dbr:Otospondylomegaepiphyseal_dysplasia
rdf:type
yago:IllHealth114052046 yago:WikicatAutosomalRecessiveDisorders owl:Thing umbel-rc:AilmentCondition yago:Condition113920835 yago:Abstraction100002137 yago:PhysicalCondition114034177 yago:Disorder114052403 yago:Attribute100024264 dbo:Disease yago:State100024720 yago:Disease114070360 yago:PathologicalState114051917 wikidata:Q12136 yago:Illness114061805
rdfs:label
Oto-spondylo-megaepiphysäre Dysplasie Otospondylomegaepiphyseal dysplasia
rdfs:comment
Die Oto-spondylo-megaepiphysäre Dysplasie kurz OSMED ist eine vererbbare Skelettdysplasie mit einer Kombination von Innenohrschwerhörigkeit („oto“) und charakteristischen Röntgenbefunden an der Wirbelsäule („spondylo“) und vergrößerten Epiphysen. Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. The name of the condition indicates that it affects hearing (oto-) and the bones of the spine (spondylo-), and enlarges the ends of bones. The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymüller syndrome. Otospondylomegaepiphyseal dysplasia is a subtype of collagenopathy, types II and XI.
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dbp:caption
Otospondylomegaepiphyseal dysplasia has an autosomal recessive pattern of inheritance.
dbo:abstract
Die Oto-spondylo-megaepiphysäre Dysplasie kurz OSMED ist eine vererbbare Skelettdysplasie mit einer Kombination von Innenohrschwerhörigkeit („oto“) und charakteristischen Röntgenbefunden an der Wirbelsäule („spondylo“) und vergrößerten Epiphysen. Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. The name of the condition indicates that it affects hearing (oto-) and the bones of the spine (spondylo-), and enlarges the ends of bones. The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymüller syndrome. Otospondylomegaepiphyseal dysplasia is a subtype of collagenopathy, types II and XI.
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