loading...| Preferred Name |
right atrial isomerism |
| Synonyms |
asplenia with cardiovascular anomalies |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060856 |
| database_cross_reference |
OMIM:208530 ORDO:97548 ICD10CM:Q20.6 |
| 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. |
| has exact synonym |
asplenia with cardiovascular anomalies Ivemark syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0060856 |
| in_subset | |
| label |
right atrial isomerism |
| notation |
DOID:0060856 |
| prefLabel |
right atrial isomerism |
| subClassOf |