right atrial isomerism
Information
- Disease name
- right atrial isomerism
- Disease ID
- DOID:0060856
- 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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14648004, url:https\://www.ncbi.nlm.nih.gov/pubmed/20413652]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050545
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q20.6
- Cross Reference ID (Disease Ontology)
- MIM:208530
- Cross Reference ID (Disease Ontology)
- ORDO:97548
- Exact Synonym (Disease Ontology)
- asplenia with cardiovascular anomalies
- Exact Synonym (Disease Ontology)
- Ivemark syndrome
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0011536