Human Phenotype
Ontology
Grandparent Node: Growth abnormality (HP:0001507) Parent Node: Heterotaxy (HP:0030853) ..Starting node Isomerism (HP:0031853)
Term ID: 31853
Name: Isomerism
Synonym:
Definition: Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.
Comments:
Reference: HP:0031853
Genes and Diseases: Child Nodes: ........Bronchial isomerism (HP:0031564) ........Left Isomerism (HP:0031854) HP:0011537 Left atrial isomerism ........Right isomerism (HP:0031855) HP:0011536 Right atrial isomerism Sister Nodes: ..Abnormality of abdominal situs (HP:0011620) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0031853 HP:0031853 Isomerism 0 CFC1 CL E G H 55997 18292 OMIM:605376 Heterotaxy, visceral, 2, autosomal 13 HP:0031853 HP:0031853 Isomerism 0 CIROP CL E G H 100128908 53647 OMIM:619702 HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 HP:0031853 HP:0031853 Isomerism 0 DNAH9 CL E G H 1770 2953 OMIM:618300 Ciliary dyskinesia, primary, 40 18 HP:0031853 HP:0031853 Isomerism 0 FANCB CL E G H 2187 3583 OMIM:314390 VACTERL association, X-linked . 58 HP:0031853 HP:0031853 Isomerism 0 GDF1 CL E G H 2657 4214 OMIM:208530 Right atrial isomerism (Ivemark) 28 HP:0031853 HP:0031853 Isomerism 0 NODAL CL E G H 4838 7865 OMIM:270100 Heterotaxy, visceral, 5 45 HP:0031853 HP:0031853 Isomerism 0 SMAD2 CL E G H 4087 6768 OMIM:619657 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 7 HP:0031853 HP:0031853 Isomerism 0 ZIC3 CL E G H 7547 12874 OMIM:306955 Heterotaxy, visceral, 1, X-linked 39 HP:0031853 HP:0031853 Isomerism 0 ZIC3 CL E G H 7547 12874 OMIM:314390 VACTERL association, X-linked . 39 HP:0031853 HP:0031564 Bronchial isomerism 1 CL E G H HP:0031853 HP:0031854 Left Isomerism 1 CFC1 CL E G H 55997 18292 OMIM:605376 Heterotaxy, visceral, 2, autosomal 13 HP:0031853 HP:0031854 Left Isomerism 1 CIROP CL E G H 100128908 53647 OMIM:619702 HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 HP:0031853 HP:0031854 Left Isomerism 1 DNAH9 CL E G H 1770 2953 OMIM:618300 Ciliary dyskinesia, primary, 40 18 HP:0031853 HP:0031855 Right isomerism 1 GDF1 CL E G H 2657 4214 OMIM:208530 Right atrial isomerism (Ivemark) 28 HP:0031853 HP:0031855 Right isomerism 1 NODAL CL E G H 4838 7865 OMIM:270100 Heterotaxy, visceral, 5 45 HP:0031853 HP:0031855 Right isomerism 1 ZIC3 CL E G H 7547 12874 OMIM:306955 Heterotaxy, visceral, 1, X-linked 39 HP:0031853 HP:0011537 Left atrial isomerism 2 CFC1 CL E G H 55997 18292 OMIM:605376 Heterotaxy, visceral, 2, autosomal . 13 HP:0031853 HP:0011536 Right atrial isomerism 2 GDF1 CL E G H 2657 4214 OMIM:208530 Right atrial isomerism (Ivemark) 28 HP:0031853 HP:0011536 Right atrial isomerism 2 NODAL CL E G H 4838 7865 OMIM:270100 Heterotaxy, visceral, 5 45 HP:0031853 HP:0011536 Right atrial isomerism 2 ZIC3 CL E G H 7547 12874 OMIM:306955 Heterotaxy, visceral, 1, X-linked 39
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
