Human Phenotype
Ontology
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Grandparent Node: Phenotypic abnormality (HP:0000118) | Parent Node: Growth abnormality (HP:0001507) | ..Starting node ..Heterotaxy (HP:0030853)
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Term ID: |
30853 |
Name: |
Heterotaxy |
Synonym: |
Heterotaxia |
Definition: |
An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. |
Comments: |
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Reference: |
HP:0030853 |
Genes and Diseases: | | Child Nodes: | ........Abnormality of abdominal situs (HP:0011620) ................... HP:0003363 Abdominal situs inversus ................... HP:0031565 Abdominal situs ambiguus | ........Isomerism (HP:0031853) ................... HP:0031564 Bronchial isomerism ................... HP:0031854 Left Isomerism ................... HP:0031855 Right isomerism | Sister Nodes: | ..Abnormality of body height (HP:0000002)
| ..Abnormality of body weight (HP:0004323)
| ..Asymmetric growth (HP:0100555)
| ..Growth delay (HP:0001510)
| ..Increased body fat percentage (HP:0025521)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0030853 | HP:0030853 | Heterotaxy | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | | | | 23 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | CFAP52 CL E G H | 146845 | 16053 | OMIM:619607 | HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10 | | | | | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | | | | 17 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | | | | 13 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | DNAH9 CL E G H | 1770 | 2953 | OMIM:618300 | Ciliary dyskinesia, primary, 40 | | | | 18 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | FOXJ1 CL E G H | 2302 | 3816 | OMIM:618699 | CILIARY DYSKINESIA, PRIMARY, 43; CILD43 | | | | | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | MMP21 CL E G H | 118856 | 14357 | OMIM:616749 | Heterotaxy, visceral, 7, autosomal | | | | 3 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | | | | 3 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | | HP:0030853 | HP:0030853 | Heterotaxy | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | | | | 23 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | CFAP52 CL E G H | 146845 | 16053 | OMIM:619607 | HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10 | | | | | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | | | | 17 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | | | | 13 | | | HP:0030853 | HP:0031853 | Isomerism | 1 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | | | | 13 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | | HP:0030853 | HP:0031853 | Isomerism | 1 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | | HP:0030853 | HP:0031853 | Isomerism | 1 | DNAH9 CL E G H | 1770 | 2953 | OMIM:618300 | Ciliary dyskinesia, primary, 40 | | | | 18 | | | HP:0030853 | HP:0031853 | Isomerism | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | . | | | 58 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | FOXJ1 CL E G H | 2302 | 3816 | OMIM:618699 | CILIARY DYSKINESIA, PRIMARY, 43; CILD43 | | | | | | | HP:0030853 | HP:0031853 | Isomerism | 1 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | | HP:0030853 | HP:0031853 | Isomerism | 1 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | | | | 3 | | | HP:0030853 | HP:0031853 | Isomerism | 1 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | | HP:0030853 | HP:0031853 | Isomerism | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | | HP:0030853 | HP:0011620 | Abnormality of abdominal situs | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | | HP:0030853 | HP:0031853 | Isomerism | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | . | | | 39 | | | HP:0030853 | HP:0031564 | Bronchial isomerism | 2 | CL E G H | | | | | | | | | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | CFAP52 CL E G H | 146845 | 16053 | OMIM:619607 | HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10 | | | | | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | . | | | 17 | | | HP:0030853 | HP:0031854 | Left Isomerism | 2 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | | | | 13 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | . | | | 13 | | | HP:0030853 | HP:0031854 | Left Isomerism | 2 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | | HP:0030853 | HP:0031565 | Abdominal situs ambiguus | 2 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | | HP:0030853 | HP:0031854 | Left Isomerism | 2 | DNAH9 CL E G H | 1770 | 2953 | OMIM:618300 | Ciliary dyskinesia, primary, 40 | | | | 18 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | FOXJ1 CL E G H | 2302 | 3816 | OMIM:618699 | CILIARY DYSKINESIA, PRIMARY, 43; CILD43 | | | | | | | HP:0030853 | HP:0031855 | Right isomerism | 2 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | | HP:0030853 | HP:0031565 | Abdominal situs ambiguus | 2 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | | HP:0030853 | HP:0031855 | Right isomerism | 2 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | | HP:0030853 | HP:0031565 | Abdominal situs ambiguus | 2 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 7 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | . | | | 3 | | | HP:0030853 | HP:0031855 | Right isomerism | 2 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | | HP:0030853 | HP:0003363 | Abdominal situs inversus | 2 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | | HP:0030853 | HP:0011537 | Left atrial isomerism | 3 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | . | | | 13 | | | HP:0030853 | HP:0011536 | Right atrial isomerism | 3 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | | HP:0030853 | HP:0011536 | Right atrial isomerism | 3 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | | HP:0030853 | HP:0011536 | Right atrial isomerism | 3 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
Genes (23) :ACTG2 CCDC32 CCDC39 CFAP52 CFAP53 CFC1 CIROP CPLX1 CTBP1 DNAH9 FANCB FOXJ1 GDF1 KDM3B LETM1 MMP21 NELFA NODAL NSD2 PIGG PKD1L1 SMAD2 ZIC3
Diseases (18) :ORPHA:2604 OMIM:619123 OMIM:613807 OMIM:619607 OMIM:614779 OMIM:605376 OMIM:619702 ORPHA:280 OMIM:618300 OMIM:314390 OMIM:618699 OMIM:208530 OMIM:618846 OMIM:616749 OMIM:270100 OMIM:617205 OMIM:619657 OMIM:306955 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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