right atrial isomerism
http://purl.obolibrary.org/obo/MONDO_0008832
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. [ DOID:0060856 PMID:20413652 PMID:14648004 ]
Term info
- GARD:0006795 (MONDO:equivalentTo)
- Orphanet:97548 (OMIM:208530)
- DOID:0060856 (MONDO:equivalentTo)
- MedDRA:10068335 (Orphanet:97548/e)
- HP:0011536 (MONDO:otherHierarchy)
- OMIM:208530 (Orphanet:97548/e)
ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/4521
right atrial isomerism (disease)
http://identifiers.org/meddra/10068335
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.
http://purl.obolibrary.org/obo/DOID_0060856, https://omim.org/entry/208530, http://purl.obolibrary.org/obo/Orphanet_97548
right atrial isomerism, right atrial isomerism (disease), right atrial isomerism (ivemark), Ivemark syndrome, asplenia with cardiovascular anomalies
bilateral right-sidedness sequence, heterotaxy, Visceroatrial, autosomal recessive, Vah, autosomal recessive, polysplenia syndrome, right isomerism, Polyasplenia, RAI, splenic agenesis syndrome, asplenia syndrome
MONDO:0008832