loading...| Preferred Name | right atrial isomerism | |
| Synonyms |
Vah, autosomal recessive splenic agenesis syndrome asplenia syndrome bilateral right-sidedness sequence Polyasplenia heterotaxy, Visceroatrial, autosomal recessive polysplenia syndrome right isomerism RAI Ivemark Syndrome right atrial isomerism (ivemark) asplenia with cardiovascular anomalies Ivemark syndrome right atrial isomerism right atrial isomerism (disease) |
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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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| closeMatch | ||
| database_cross_reference |
OMIM:208530 MedDRA:10068335 DOID:0060856 Orphanet:97548 MEDGEN:465274 UMLS:C3178806 GARD:6795 HP:0011536 NORD:1305 |
|
| 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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| exactMatch |
http://purl.obolibrary.org/obo/DOID_0060856 http://purl.obolibrary.org/obo/Orphanet_97548 |
|
| has_exact_synonym |
Ivemark Syndrome right atrial isomerism (ivemark) asplenia with cardiovascular anomalies Ivemark syndrome right atrial isomerism right atrial isomerism (disease) |
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| has_related_synonym |
Vah, autosomal recessive splenic agenesis syndrome asplenia syndrome bilateral right-sidedness sequence Polyasplenia heterotaxy, Visceroatrial, autosomal recessive polysplenia syndrome right isomerism RAI |
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| IAO_0000233 | ||
| IAO_0000589 |
right atrial isomerism (disease) |
|
| id |
MONDO:0008832 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
right atrial isomerism |
|
| notation |
MONDO:0008832 |
|
| preferred label |
right atrial isomerism |
|
| prefLabel |
right atrial isomerism |
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| subClassOf |