Term ID: 1750
Name: Single ventricle
Synonym: Common ventricle
Definition: The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.
Comments:
Reference: HP:0001750
Genes and Diseases: Child Nodes: ........Double inlet left ventricle (HP:0011555) ........Double inlet right ventricle (HP:0011556) ........Double inlet to single ventricle of indeterminate morphology (HP:0011557) HP:0011558 Double inlet to single ventricle with common atrioventricular orificeHP:0011559 Double inlet to single ventricle with two atrioventricular valves ........Single ventricle of indeterminate morphology (HP:0011680) Sister Nodes: ..Abnormal left ventricle morphology (HP:0001711) ..Abnormal right ventricle morphology (HP:0001707) ..Abnormal ventricular septum morphology (HP:0010438) ..Cardiac diverticulum (HP:0100571) ..Dilatation of the ventricular cavity (HP:0006698) ..Myocardial calcification (HP:0006690) ..Myocardial steatosis (HP:0006693) ..Ventricular hypertrophy (HP:0001714) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0001750 HP:0001750 Single ventricle 0 CIROP CL E G H 100128908 53647 OMIM:619702 HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 HP:0001750 HP:0001750 Single ventricle 0 GDF1 CL E G H 2657 4214 OMIM:613854 Congenital heart defects, multiple types, 6 . 28 HP:0001750 HP:0001750 Single ventricle 0 GDF1 CL E G H 2657 4214 OMIM:208530 Right atrial isomerism (Ivemark) 28 HP:0001750 HP:0001750 Single ventricle 0 MAPKAPK5 CL E G H 8550 6889 OMIM:619869 HP:0001750 HP:0001750 Single ventricle 0 NODAL CL E G H 4838 7865 OMIM:270100 Heterotaxy, visceral, 5 45 HP:0001750 HP:0001750 Single ventricle 0 NSDHL CL E G H 50814 13398 OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects . 34 HP:0001750 HP:0001750 Single ventricle 0 PLD1 CL E G H 5337 9067 OMIM:212093 Cardiac valvular defect, developmental 4 HP:0001750 HP:0001750 Single ventricle 0 SIX3 CL E G H 6496 10889 OMIM:157170 Holoprosencephaly 2 . 32 HP:0001750 HP:0001750 Single ventricle 0 STRA6 CL E G H 64220 30650 OMIM:601186 Microphthalmia, syndromic 9 . 71 HP:0001750 HP:0001750 Single ventricle 0 TXNDC15 CL E G H 79770 20652 OMIM:619879 2 HP:0001750 HP:0001750 Single ventricle 0 ZIC3 CL E G H 7547 12874 OMIM:306955 Heterotaxy, visceral, 1, X-linked 39 HP:0001750 HP:0011680 Single ventricle of indeterminate morphology 1 CL E G H HP:0001750 HP:0011557 Double inlet to single ventricle of indeterminate morphology 1 CL E G H HP:0001750 HP:0011556 Double inlet right ventricle 1 CIROP CL E G H 100128908 53647 OMIM:619702 HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 HP:0001750 HP:0011555 Double inlet left ventricle 1 MAPKAPK5 CL E G H 8550 6889 OMIM:619869 HP:0001750 HP:0011555 Double inlet left ventricle 1 NODAL CL E G H 4838 7865 OMIM:270100 Heterotaxy, visceral, 5 45 HP:0001750 HP:0011555 Double inlet left ventricle 1 PLD1 CL E G H 5337 9067 OMIM:212093 Cardiac valvular defect, developmental 4 HP:0001750 HP:0011559 Double inlet to single ventricle with two atrioventricular valves 2 CL E G H HP:0001750 HP:0011558 Double inlet to single ventricle with common atrioventricular orifice 2 CL E G H
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
