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Human Disease

right atrial isomerism

Term ID
DOID:0060856
Synonyms
  • asplenia with cardiovascular anomalies
  • Ivemark syndrome
Definition
A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. (2)
References
  • ICD10CM:Q20.6
  • MIM:208530
  • ORDO:97548
Ontology
Human Disease   ( DOID:0060856 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations