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visceral heterotaxy

Go to external page 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 ]

Synonyms: heterotaxia heterotaxia syndrome incomplete situs inversus visceral heterotaxy situs ambiguus partial situs inversus situs ambiguous lateralization defect heterotaxy syndrome heterotaxy, visceral

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:306955 (https://orcid.org/0000-0002-6601-2165)
  • DOID:0050545 (MONDO:equivalentTo)
  • MedDRA:10059119 (Orphanet:157769/e)
  • NCIT:C117273 (MONDO:equivalentTo)
  • UMLS:C3178805 (MONDO:equivalentTo)
  • GARD:10875 (MONDO:GARD)
  • MedDRA:10067265 (Orphanet:450/e)
  • Orphanet:450 (MONDO:equivalentTo)
  • MEDGEN:465273 (MONDO:equivalentTo)
  • SCTID:14821001 (MONDO:equivalentTo)
  • Orphanet:157769 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, disease_grouping, rare, ordo_morphological_anomaly, nord_rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6740

https://github.com/monarch-initiative/mondo/issues/2826

closeMatch

http://identifiers.org/meddra/10059119

http://identifiers.org/meddra/10067265

exactMatch

http://purl.obolibrary.org/obo/NCIT_C117273

http://identifiers.org/medgen/465273

http://linkedlifedata.com/resource/umls/id/C3178805

http://identifiers.org/snomedct/14821001

http://www.orpha.net/ORDO/Orphanet_157769

http://purl.obolibrary.org/obo/DOID_0050545

http://www.orpha.net/ORDO/Orphanet_450

https://omim.org/phenotypicSeries/PS306955

id

MONDO:0018677