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:
Abnormal heart morphology (HP:0001627)

Parent Node:
Abnormal connection of the cardiac segments (HP:0011545)

..Starting node
..Abnormal atrioventricular connection (HP:0011546)

Term ID:

11546

Name:

Abnormal atrioventricular connection

Synonym:

Abnormal atrioventricular connexion

Definition:

An abnormality of the circulatory connection between atria and ventricles.

Comments:

Reference:

HP:0011546

Genes and Diseases:

Child Nodes:

........

Absent left sided atrioventricular connection (HP:0011547)

................... HP:0011549 Univentricular heart with absent left sided atrioventricular connection
................... HP:0011550 Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection
................... HP:0011551 Right sided atrium to left ventricle and absent left sided atrioventricular connection

........

Absent right sided atrioventricular connection (HP:0011548)

........

Ambiguous atrioventricular connection (HP:0011552)

........

Discordant atrioventricular connection (HP:0011553)

........

Double inlet atrioventricular connection (HP:0011554)

................... HP:0011555 Double inlet left ventricle
................... HP:0011556 Double inlet right ventricle
................... HP:0011557 Double inlet to single ventricle of indeterminate morphology

........

Mitral atresia (HP:0011560)

........

Overriding atrioventricular valve (HP:0011561)

........

Straddling atrioventricular valve (HP:0011562)

Sister Nodes:

Abnormal ventriculoarterial connection (HP:0011563)

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:0011546	HP:0011546	Abnormal atrioventricular connection	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome		68
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome		90
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2		90
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1		452
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0011546	HP:0011546	Abnormal atrioventricular connection	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0011546	HP:0011548	Absent right sided atrioventricular connection	1	CL E G H
HP:0011546	HP:0011547	Absent left sided atrioventricular connection	1	CL E G H
HP:0011546	HP:0011552	Ambiguous atrioventricular connection	1	CL E G H
HP:0011546	HP:0011562	Straddling atrioventricular valve	1	CL E G H
HP:0011546	HP:0011561	Overriding atrioventricular valve	1	CL E G H
HP:0011546	HP:0011560	Mitral atresia	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0011546	HP:0011554	Double inlet atrioventricular connection	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011546	HP:0011553	Discordant atrioventricular connection	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011546	HP:0011560	Mitral atresia	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	68
HP:0011546	HP:0011560	Mitral atresia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011546	HP:0011554	Double inlet atrioventricular connection	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011546	HP:0011560	Mitral atresia	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0011546	HP:0011560	Mitral atresia	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0011546	HP:0011560	Mitral atresia	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	90
HP:0011546	HP:0011560	Mitral atresia	1	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.	90
HP:0011546	HP:0011554	Double inlet atrioventricular connection	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0011546	HP:0011560	Mitral atresia	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare	452
HP:0011546	HP:0011554	Double inlet atrioventricular connection	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0011546	HP:0011560	Mitral atresia	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39
HP:0011546	HP:0011557	Double inlet to single ventricle of indeterminate morphology	2	CL E G H
HP:0011546	HP:0011551	Right sided atrium to left ventricle and absent left sided atrioventricular connection	2	CL E G H
HP:0011546	HP:0011550	Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection	2	CL E G H
HP:0011546	HP:0011549	Univentricular heart with absent left sided atrioventricular connection	2	CL E G H
HP:0011546	HP:0011556	Double inlet right ventricle	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011546	HP:0011555	Double inlet left ventricle	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011546	HP:0011555	Double inlet left ventricle	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0011546	HP:0011555	Double inlet left ventricle	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0011546	HP:0011558	Double inlet to single ventricle with common atrioventricular orifice	3	CL E G H
HP:0011546	HP:0011559	Double inlet to single ventricle with two atrioventricular valves	3	CL E G H

Genes (12) :CCNQ CIROP GJA1 GNB2 MAPKAPK5 MCTP2 MMP21 NKX2-5 NODAL NOTCH1 PLD1 ZIC3

Diseases (12) :ORPHA:140952 OMIM:619702 ORPHA:2248 OMIM:619503 OMIM:619869 ORPHA:1596 OMIM:616749 OMIM:614435 OMIM:270100 OMIM:109730 OMIM:212093 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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