About: Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome

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

Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome is an extremely rare multi-systemic genetic disorder which is characterized by congenital ocular, muscular, and heart abnormalities. It was first described in the children of a consanguineous couple, and it is thought to be autosomal recessive disorder with variable expressity. No new cases have been described in medical literature since 1992.

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dbo:abstract
  • Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome is an extremely rare multi-systemic genetic disorder which is characterized by congenital ocular, muscular, and heart abnormalities. It was first described in the children of a consanguineous couple, and it is thought to be autosomal recessive disorder with variable expressity. No new cases have been described in medical literature since 1992. (en)
dbo:alias
  • (en)
  • None. (en)
dbo:wikiPageID
  • 70822761 (xsd:integer)
dbo:wikiPageLength
  • 3282 (xsd:nonNegativeInteger)
dbo:wikiPageRevisionID
  • 1104941858 (xsd:integer)
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dbp:causes
  • Autosomal recessive inheritance (en)
dbp:complications
dbp:diagnosis
  • Physical examination (en)
dbp:duration
  • Life-long (en)
dbp:frequency
  • Very rare. (en)
dbp:name
  • Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome (en)
dbp:onset
  • Birth (en)
dbp:prevention
  • none (en)
dbp:specialty
dbp:symptoms
  • ocular, muscular, heart and skeletal anomalies (en)
dbp:synonyms
  • None. (en)
dbp:wikiPageUsesTemplate
dcterms:subject
rdf:type
rdfs:comment
  • Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome is an extremely rare multi-systemic genetic disorder which is characterized by congenital ocular, muscular, and heart abnormalities. It was first described in the children of a consanguineous couple, and it is thought to be autosomal recessive disorder with variable expressity. No new cases have been described in medical literature since 1992. (en)
rdfs:label
  • Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome (en)
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