About: Otospondylomegaepiphyseal dysplasia

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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.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720 umbel-rc:AilmentCondition
rdfs:label	Oto-spondylo-megaepiphysäre Dysplasie (de) Otospondylomegaepiphyseal dysplasia (en)
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. (de) 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. (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Rare diseases Collagen disease
Wikipage page ID	2573885 (xsd:integer)
Wikipage revision ID	1048874211 (xsd:integer)
Link from a Wikipage to another Wikipage	Bone Vertebrae Cleft palate Gene Connective tissue Autosomal recessive disorders Autosomal recessive Hearing loss Rare diseases Arthritis Collagen disease Collagen Collagenopathy, types II and XI Autosome Recessive gene COL11A2 Epiphyses Weissenbacher-Zweymüller syndrome dbr:Megaepiphyse
Link from a Wikipage to an external page	https://repository.ubn.ru.nl/bitstream/2066/24596/1/24596___.PDF https://web.archive.org/web/20130801115921/http:/boobies.nlm.nih.gov/
sameAs	Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia
dbp:wikiPageUsesTemplate	dbt:Cite_journal dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Refimprove dbt:Osteochondrodysplasia dbt:Scleroprotein_disease
thumbnail	wiki-commons:Special:FilePath/autorecessive.svg?width=300
DiseasesDB	32024 (xsd:integer)
OMIM	215150 (xsd:integer)
caption	Otospondylomegaepiphyseal dysplasia has an autosomal recessive pattern of inheritance. (en)
has 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. (de) 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. (en)
gold:hypernym	Disorder
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
prov:wasDerivedFrom	wikipedia-en:Otospondylomegaepiphyseal_dysplasia?oldid=1048874211&ns=0
page length (characters) of wiki page	5055 (xsd:nonNegativeInteger)
DiseasesDB	32024
OMIM id	215150 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:Otospondylomegaepiphyseal_dysplasia
is Link from a Wikipage to another Wikipage of	List of diseases (O) Insley-Astley syndrome Chromosome 6 List of OMIM disorder codes Collagen, type XI, alpha 2 Collagenopathy, types II and XI Osmed Syndrome Osmed syndrome Chondrodystrophy with sensorineural deafness OSMED Mega-epiphyseal dwarfism Megaepiphyseal dwarfism Oto-spondylo-megaepiphyseal dysplasia Nance-Insley syndrome Nance-Sweeney chondrodysplasia
is Wikipage redirect of	Insley-Astley syndrome Osmed Syndrome Osmed syndrome Chondrodystrophy with sensorineural deafness OSMED Mega-epiphyseal dwarfism Megaepiphyseal dwarfism Oto-spondylo-megaepiphyseal dysplasia Nance-Insley syndrome Nance-Sweeney chondrodysplasia
is foaf:primaryTopic of	wikipedia-en:Otospondylomegaepiphyseal_dysplasia

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