Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Phenotypic abnormality (HP:0000118)

Parent Node:
Growth abnormality (HP:0001507)

..Starting node
..Heterotaxy (HP:0030853)

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:

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	ClinVar variants
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: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	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal		13
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	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:0011620	Abnormality of abdominal situs	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
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	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:0011620	Abnormality of abdominal situs	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
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	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:0031565	Abdominal situs ambiguus	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0030853	HP:0031855	Right isomerism	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:0003363	Abdominal situs inversus	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
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	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:0003363	Abdominal situs inversus	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
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: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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