DOOR (Deafness, Onychdystrophy, Osteodystrophy, and Mental Retardation) Syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by mental retardation, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. A similar deafness-onychodystrophy syndrome is transmitted as an autosomal dominant trait and has no mental retardation.

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dbpedia-owl:diseasesdb
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dbpedia-owl:meshId
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dbpedia-owl:omim
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dbpprop:abstract
  • DOOR (Deafness, Onychdystrophy, Osteodystrophy, and Mental Retardation) Syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by mental retardation, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. A similar deafness-onychodystrophy syndrome is transmitted as an autosomal dominant trait and has no mental retardation. Some authors have proposed that it may be the same as Eronen Syndrome, but since both disorders are extremely rare it is hard to make a determination.
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  • 32494 (xsd:integer)
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dbpprop:name
  • DOOR syndrome
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dbpprop:reference
dbpprop:wikiPageUsesTemplate
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rdfs:comment
  • DOOR (Deafness, Onychdystrophy, Osteodystrophy, and Mental Retardation) Syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by mental retardation, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. A similar deafness-onychodystrophy syndrome is transmitted as an autosomal dominant trait and has no mental retardation.
rdfs:label
  • DOOR syndrome
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foaf:name
  • DOOR syndrome
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