Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

visceral heterotaxy
Synonyms

heterotaxia syndrome

visceral heterotaxy

heterotaxy, visceral

situs ambiguous

lateralization defect

partial situs inversus

situs ambiguus

incomplete situs inversus

heterotaxia

heterotaxy syndrome

Definitions

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.

ID

http://purl.obolibrary.org/obo/MONDO_0018677

database_cross_reference

Orphanet:450

MedDRA:10067265

SCTID:14821001

NCIT:C117273

DOID:0050545

Orphanet:157769

MedDRA:10059119

icd11.foundation:780273165

OMIMPS:306955

MEDGEN:465273

UMLS:C3178805

GARD:10875

definition

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.

has_exact_synonym

heterotaxia syndrome

visceral heterotaxy

heterotaxy, visceral

situs ambiguous

lateralization defect

partial situs inversus

situs ambiguus

incomplete situs inversus

heterotaxia

heterotaxy syndrome

IAO_0000233

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

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

id

MONDO:0018677

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_morphological_anomaly

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#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

visceral heterotaxy

notation

MONDO:0018677

preferred label

visceral heterotaxy

prefLabel

visceral heterotaxy

skos_closeMatch

http://identifiers.org/meddra/10059119

http://identifiers.org/meddra/10067265

skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_157769

http://identifiers.org/snomedct/14821001

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

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

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/780273165

http://purl.obolibrary.org/obo/Orphanet_450

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

https://omim.org/phenotypicSeries/PS306955

http://identifiers.org/medgen/465273

subClassOf

http://www.ebi.ac.uk/efo/EFO_0005269

http://purl.obolibrary.org/obo/MONDO_0002254

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