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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

ICD10CM:Q20.6

OMIM:208530

ORDO:97548

Synonyms

asplenia with cardiovascular anomalies [EXACT]

Ivemark syndrome [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a visceral heterotaxy

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