right atrial isomerism
A visceral heterotaxy 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 may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.
MONDO:0018677
visceral heterotaxy
is_a
Ivemark Syndrome
exact
Ivemark syndrome
exact
RAI
related
asplenia syndrome
related
asplenia with cardiovascular anomalies
exact
bilateral right-sidedness sequence
related
right atrial isomerism
exact
right atrial isomerism (disease)
exact
right atrial isomerism (ivemark)
exact
splenic agenesis syndrome
related