Term ID:
31854
Name:
Left Isomerism
Synonym:
Left-sided isomerism
Definition:
A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.
Comments:
Reference:
HP:0031854
Genes and Diseases: Child Nodes: ........Left atrial isomerism (HP:0011537) Sister Nodes: ..Bronchial isomerism (HP:0031564) ..Right isomerism (HP:0031855) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0031854 HP:0031854 Left Isomerism 0 CFC1 CL E G H 55997 18292 OMIM:605376 Heterotaxy, visceral, 2, autosomal 13 HP:0031854 HP:0031854 Left Isomerism 0 CIROP CL E G H 100128908 53647 OMIM:619702 HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 HP:0031854 HP:0031854 Left Isomerism 0 DNAH9 CL E G H 1770 2953 OMIM:618300 Ciliary dyskinesia, primary, 40 18 HP:0031854 HP:0011537 Left atrial isomerism 1 CFC1 CL E G H 55997 18292 OMIM:605376 Heterotaxy, visceral, 2, autosomal . 13
Genes (3) :CFC1 CIROP DNAH9 Diseases (3) :OMIM:605376 OMIM:619702 OMIM:618300
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.