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Summary Literature (0)
DOID:0060856 - right atrial isomerism


Disease Ontology 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.

Synonyms: asplenia with cardiovascular anomalies, Ivemark syndrome

Xenbase Genes : gdf1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008832 - right atrial isomerism


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), visceral heterotaxy (is_a)