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right atrial isomerism
Summary
- Synonym
-
- Ivemark syndrome
- asplenia with cardiovascular anomalies
- 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.
- Super Class
- autosomal recessive disease visceral heterotaxy
External Links
- Disease Ontology
- DOID:0060856
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
