| Metadata | |
|---|---|
| ID | DOID:0060856 |
| Name | right atrial isomerism |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/14648004, https://www.ncbi.nlm.nih.gov/pubmed/20413652 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
asplenia with cardiovascular anomalies [EXACT] Ivemark syndrome [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a visceral heterotaxy |