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 ICD10CM:Q20.6 ORDO:97548 |
|
| 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 |
|
| textual 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. |
|
| subClassOf |