An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Autosomal dominant genetic condition

Property Value
dbo:alias
  • Au–Kline syndrome (AKS), neurodevelopmental disorder–craniofacial dysmorphism–cardiac defect–skeletal anomalies syndrome, congenital hydronephrosis with cleft palate, characteristic facies, hypotonia and mental retardation (en)
dbo:description
  • Autosomal dominant genetic condition (en)
dbo:geneReviewsId
  • NBK540283
dbo:geneReviewsName
  • Au–Kline Syndrome (en)
dbo:gradName
  • Okamoto syndrome
dbo:gradNum
  • 4064
dbo:meshId
  • C565736
dbo:omim
  • 604916 (xsd:integer)
dbo:orpha
  • 2729
dbo:thumbnail
dbo:wikiPageExternalLink
dbo:wikiPageWikiLink
dbp:caption
  • Boy with Okamoto syndrome, showing the characteristic facial features (en)
dbp:causes
  • Genetic (en)
dbp:complications
dbp:diagnosis
  • Based on symptoms, genetic testing (en)
dbp:frequency
  • Not yet known. 26 individuals known to be affected . (en)
dbp:gardname
  • Okamoto syndrome (en)
dbp:gardnum
  • 4064 (xsd:integer)
dbp:genereviewsname
  • Au–Kline Syndrome (en)
dbp:genereviewsnbk
  • NBK540283 (en)
dbp:meshid
  • 565736.0 (dbd:nicaraguanCórdoba)
dbp:omim
  • 604916 (xsd:integer)
dbp:orphanet
  • 2729 (xsd:integer)
dbp:prognosis
  • Not yet certain. Most patients have at least lived through childhood; mortality in infancy in a minority. (en)
dbp:symptoms
  • Congenital hydronephrosis, congenital heart defects, intellectual disability, dysautonomia, characteristic facial features (en)
dbp:synonyms
  • Au–Kline syndrome , neurodevelopmental disorder–craniofacial dysmorphism–cardiac defect–skeletal anomalies syndrome, congenital hydronephrosis with cleft palate, characteristic facies, hypotonia and mental retardation (en)
dbp:treatment
  • Symptomatic (en)
dbp:wikiPageUsesTemplate
dct:subject
rdf:type
rdfs:label
  • Okamoto syndrome (en)
  • متلازمة أوكاموتو (ar)
  • Σύνδρομο Οκαμότο (el)
owl:sameAs
prov:wasDerivedFrom
foaf:depiction
foaf:isPrimaryTopicOf
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is dbo:wikiPageWikiLink of
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