About: Atelosteogenesis, type II     Goto   Sponge   NotDistinct   Permalink

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Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is rare, and infants with the disorder are usually stillborn; those who survive birth die soon after.

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  • Atelosteogenesis, type II (en)
  • Atélostéogenèse de type II (fr)
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  • Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is rare, and infants with the disorder are usually stillborn; those who survive birth die soon after. (en)
  • L’atélostéogenèse type 2 est un nanisme létal avec un faciès particulier. Le tableau clinique comprend par un raccourcissement des membres avec un crâne de taille normale, un pouce dévié rappelant l’aspect du pouce faisant de l’auto-stop, petit thorax avec un abdomen proéminent (fr)
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  • Atelosteogenesis, type II (en)
name
  • Atelosteogenesis, type II (en)
foaf:depiction
  • http://commons.wikimedia.org/wiki/Special:FilePath/autorecessive.svg
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DiseasesDB
ICD
  • Q77.5 (en)
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  • Atelosteogenesis, type II has an autosomal recessive pattern of inheritance. (en)
has abstract
  • Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is rare, and infants with the disorder are usually stillborn; those who survive birth die soon after. (en)
  • L’atélostéogenèse type 2 est un nanisme létal avec un faciès particulier. Le tableau clinique comprend par un raccourcissement des membres avec un crâne de taille normale, un pouce dévié rappelant l’aspect du pouce faisant de l’auto-stop, petit thorax avec un abdomen proéminent (fr)
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MeSH ID
  • C535395
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page length (characters) of wiki page
DiseasesDB
  • 33349
ICD10
  • Q77.5
OMIM id
ORPHA
  • 56304
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