loading...| Preferred Name |
RIGHT ATRIAL ISOMERISM |
| Synonyms |
HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE |
| ID |
http://purl.bioontology.org/ontology/OMIM/208530 |
| altLabel |
HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE ASPLENIA WITH CARDIOVASCULAR ANOMALIES IVEMARK SYNDROME POLYSPLENIA SYNDROME RAI RIGHT ISOMERISM POLYASPLENIA VAH, AUTOSOMAL RECESSIVE |
| cui |
C0265357 C1876171 C1876173 C3178806 C0175707 |
| Gene Locus |
19p12 |
| Gene Symbol |
DTGA3 CHTD6 DORV RAI GDF1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU004094 http://purl.bioontology.org/ontology/OMIM/MTHU041718 http://purl.bioontology.org/ontology/OMIM/MTHU041722 http://purl.bioontology.org/ontology/OMIM/MTHU041720 http://purl.bioontology.org/ontology/OMIM/MTHU041726 http://purl.bioontology.org/ontology/OMIM/MTHU041724 http://purl.bioontology.org/ontology/OMIM/MTHU037624 http://purl.bioontology.org/ontology/OMIM/MTHU025200 http://purl.bioontology.org/ontology/OMIM/MTHU041725 http://purl.bioontology.org/ontology/OMIM/MTHU041719 http://purl.bioontology.org/ontology/OMIM/MTHU001474 http://purl.bioontology.org/ontology/OMIM/MTHU004506 http://purl.bioontology.org/ontology/OMIM/MTHU041727 http://purl.bioontology.org/ontology/OMIM/MTHU041723 http://purl.bioontology.org/ontology/OMIM/MTHU041721 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
208530 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
RIGHT ATRIAL ISOMERISM |
| Scope Statement |
Caused by mutation in the growth/differentiation factor 1 gene (GDF1, 602880.0001) [MOLECULAR BASIS] Poor outcome [MISCELLANEOUS] One family with confirmed genetic basis has been reported (last curated September 2013) [MISCELLANEOUS] Cardiac failure at birth [MISCELLANEOUS] |
| tui |
T019 T047 |