visceral heterotaxy
http://purl.obolibrary.org/obo/MONDO_0018677
A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. [ NCIT:C117273 ]
Term info
- NCIT:C117273 (MONDO:equivalentTo)
- EFO:0009081 (MONDO:equivalentTo)
- MedDRA:10059119 (Orphanet:157769/e)
- Orphanet:450 (MONDO:equivalentTo)
- DOID:0050545 (MONDO:equivalentTo)
- SCTID:14821001 (MONDO:equivalentTo)
- Orphanet:157769 (MONDO:equivalentTo)
- OMIMPS:306955 (MONDO:equivalentTo)
- MedDRA:10067265 (Orphanet:450/e)
- GARD:0010875 (MONDO:equivalentTo)
- UMLS:C3178805 (Orphanet:450/e)
disease_grouping, ordo_morphological_anomaly, clingen, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/2826
http://identifiers.org/meddra/10059119, http://identifiers.org/meddra/10067265
A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.
http://purl.obolibrary.org/obo/NCIT_C117273, http://identifiers.org/snomedct/14821001, http://linkedlifedata.com/resource/umls/id/C3178805, http://purl.obolibrary.org/obo/Orphanet_157769, http://purl.obolibrary.org/obo/DOID_0050545, http://purl.obolibrary.org/obo/Orphanet_450, https://omim.org/phenotypicSeries/PS306955
heterotaxia, heterotaxia syndrome, incomplete situs inversus, situs ambiguus, visceral heterotaxy, partial situs inversus, situs ambiguous, lateralization defect, heterotaxy syndrome, heterotaxy, visceral
MONDO:0018677