Right Atrial Isomerism
Disease ID: disease_node_19910
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q20.6, MIM:208530, ORDO:97548 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050545 |
| Data Source | DOID |
| Synonyms | Ivemark syndrome, asplenia with cardiovascular anomalies |
| Doid Label | right atrial isomerism |
| Doid Description | 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 Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19910 |
| Doid Id | DOID_0060856 |
| Label | Right Atrial Isomerism |
- Outgoing r'ship
SUBCLASS_OFto/from Visceral Heterotaxy(ID:disease_node_19897) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)