Heterotaxy
cv_term_accession
KW-1056
canonical
uniprot_keyword
KW-1056
canonical
name
Heterotaxy
uniprot
synonym
Heterotaxia
uniprot
synonym
Situs ambiguous
uniprot
synonym
Situs ambiguus
uniprot
synonym
Visceral heterotaxy
uniprot
definition
Protein which, if defective, causes heterotaxy, a broad group of disorders caused by failure to correctly establish left-right patterning during embryogenesis with consequent abnormal segmental arrangements of cardiac chambers, vessels, lungs, and/or abdominal organs. Heterotaxy include complex cardiac malformations, situs inversus, situs ambiguus, isomerism. Situs inversus indicates complete left-right reversal of organ position and is not usually associated with structural anomalies. Situs ambiguus is an abnormal arrangement of viscera almost invariably associated with complex cardiovascular malformations as well as anomalies of the spleen and the gastrointestinal system. Isomerism is a defect in asymmetry of paired organs that usually have distinct right and left forms, but in this condition, are mirror images.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords