loading...| Preferred Name | right atrial isomerism | |
| Synonyms |
bilateral right-sidedness sequence heterotaxy, Visceroatrial, autosomal recessive polysplenia syndrome Vah, autosomal recessive Polyasplenia asplenia syndrome splenic agenesis syndrome right isomerism RAI right atrial isomerism (disease) Ivemark syndrome right atrial isomerism (ivemark) asplenia with cardiovascular anomalies right atrial isomerism |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008832 |
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| altLabel |
bilateral right-sidedness sequence heterotaxy, Visceroatrial, autosomal recessive polysplenia syndrome Vah, autosomal recessive Polyasplenia asplenia syndrome splenic agenesis syndrome right isomerism RAI right atrial isomerism (disease) Ivemark syndrome right atrial isomerism (ivemark) asplenia with cardiovascular anomalies right atrial isomerism |
|
| 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. |
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| has_exact_synonym |
right atrial isomerism (disease) Ivemark syndrome right atrial isomerism (ivemark) asplenia with cardiovascular anomalies right atrial isomerism |
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| has_related_synonym |
bilateral right-sidedness sequence heterotaxy, Visceroatrial, autosomal recessive polysplenia syndrome Vah, autosomal recessive Polyasplenia asplenia syndrome splenic agenesis syndrome right isomerism RAI |
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| IAO_0000233 | ||
| IAO_0000589 |
right atrial isomerism (disease) |
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| label |
right atrial isomerism |
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| prefixIRI |
MONDO:0008832 |
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| prefLabel |
right atrial isomerism |
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| textual 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. |
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| subClassOf |