loading...| Preferred Name |
right atrial isomerism |
| Synonyms |
Vah, autosomal recessive right atrial isomerism (ivemark) heterotaxy, Visceroatrial, autosomal recessive polysplenia syndrome Polyasplenia right atrial isomerism (disease) Ivemark syndrome right atrial isomerism asplenia with cardiovascular anomalies RAI splenic agenesis syndrome asplenia syndrome right isomerism bilateral right-sidedness sequence |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0008832 |
| closeMatch | |
| database_cross_reference |
Orphanet:97548 HP:0011536 OMIM:208530 DOID:0060856 MedDRA:10068335 GARD:0006795 |
| definition |
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. |
| exactMatch | |
| has_exact_synonym |
right atrial isomerism (ivemark) right atrial isomerism (disease) Ivemark syndrome right atrial isomerism asplenia with cardiovascular anomalies |
| has_related_synonym |
Vah, autosomal recessive heterotaxy, Visceroatrial, autosomal recessive polysplenia syndrome Polyasplenia RAI splenic agenesis syndrome asplenia syndrome right isomerism bilateral right-sidedness sequence |
| IAO_0000233 | |
| IAO_0000589 |
right atrial isomerism (disease) |
| id |
MONDO:0008832 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
right atrial isomerism |
| notation |
MONDO:0008832 |
| prefLabel |
right atrial isomerism |
| treeView | |
| subClassOf |