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 cardiac septum morphology (HP:0001671)

..Starting node
..Atrioventricular canal defect (HP:0006695)

Term ID:

6695

Name:

Atrioventricular canal defect

Synonym:

Atrioventricular septal defect; Endocardial cushion defect; Hole in center of heart; Hole in centre of heart

Definition:

A defect of the atrioventricular septum of the heart.

Comments:

Reference:

HP:0006695

Genes and Diseases:

Child Nodes:

........

Complete atrioventricular canal defect (HP:0001674)

........

Primum atrial septal defect (HP:0010445)

........

Intermediate atrioventricular canal defect (HP:0011576)

........

Partial atrioventricular canal defect (HP:0011577)

........

Transitional atrioventricular canal defect (HP:0011578)

........

Unbalanced atrioventricular canal defect (HP:0011579)

Sister Nodes:

Abnormal atrial septum morphology (HP:0011994)

Abnormal ventricular septum morphology (HP:0010438)

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:0006695	HP:0006695	Atrioventricular canal defect	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	.	161
HP:0006695	HP:0006695	Atrioventricular canal defect	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	276
HP:0006695	HP:0006695	Atrioventricular canal defect	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0006695	HP:0006695	Atrioventricular canal defect	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0006695	HP:0006695	Atrioventricular canal defect	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0006695	HP:0006695	Atrioventricular canal defect	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0006695	HP:0006695	Atrioventricular canal defect	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0006695	HP:0006695	Atrioventricular canal defect	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0006695	HP:0006695	Atrioventricular canal defect	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0006695	HP:0006695	Atrioventricular canal defect	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0006695	HP:0006695	Atrioventricular canal defect	0	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.	19
HP:0006695	HP:0006695	Atrioventricular canal defect	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0006695	HP:0006695	Atrioventricular canal defect	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0006695	HP:0006695	Atrioventricular canal defect	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0006695	HP:0006695	Atrioventricular canal defect	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0006695	HP:0006695	Atrioventricular canal defect	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	7
HP:0006695	HP:0006695	Atrioventricular canal defect	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0006695	HP:0006695	Atrioventricular canal defect	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0006695	HP:0006695	Atrioventricular canal defect	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	209
HP:0006695	HP:0006695	Atrioventricular canal defect	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	137
HP:0006695	HP:0006695	Atrioventricular canal defect	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0006695	HP:0006695	Atrioventricular canal defect	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0006695	HP:0006695	Atrioventricular canal defect	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2	HP:0040283 - Occasional	87
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4		87
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1		87
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5	.	37
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations		37
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	1
HP:0006695	HP:0006695	Atrioventricular canal defect	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0006695	HP:0006695	Atrioventricular canal defect	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0006695	HP:0006695	Atrioventricular canal defect	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0006695	HP:0006695	Atrioventricular canal defect	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0006695	HP:0006695	Atrioventricular canal defect	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0006695	HP:0006695	Atrioventricular canal defect	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	HP:0040283 - Occasional	53
HP:0006695	HP:0006695	Atrioventricular canal defect	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0006695	HP:0006695	Atrioventricular canal defect	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0006695	HP:0006695	Atrioventricular canal defect	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal	.	3
HP:0006695	HP:0006695	Atrioventricular canal defect	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0006695	HP:0006695	Atrioventricular canal defect	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations		90
HP:0006695	HP:0006695	Atrioventricular canal defect	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations		3
HP:0006695	HP:0006695	Atrioventricular canal defect	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0006695	HP:0006695	Atrioventricular canal defect	0	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.	13
HP:0006695	HP:0006695	Atrioventricular canal defect	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0006695	HP:0006695	Atrioventricular canal defect	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0006695	HP:0006695	Atrioventricular canal defect	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0006695	HP:0006695	Atrioventricular canal defect	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0006695	HP:0006695	Atrioventricular canal defect	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0006695	HP:0006695	Atrioventricular canal defect	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	291
HP:0006695	HP:0006695	Atrioventricular canal defect	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0006695	HP:0006695	Atrioventricular canal defect	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0006695	HP:0006695	Atrioventricular canal defect	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	212
HP:0006695	HP:0006695	Atrioventricular canal defect	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006695	HP:0006695	Atrioventricular canal defect	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0006695	HP:0006695	Atrioventricular canal defect	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0006695	HP:0006695	Atrioventricular canal defect	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations		32
HP:0006695	HP:0006695	Atrioventricular canal defect	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040283 - Occasional	123
HP:0006695	HP:0006695	Atrioventricular canal defect	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0006695	HP:0006695	Atrioventricular canal defect	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0006695	HP:0006695	Atrioventricular canal defect	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006695	HP:0006695	Atrioventricular canal defect	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0006695	HP:0006695	Atrioventricular canal defect	0	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly		60
HP:0006695	HP:0006695	Atrioventricular canal defect	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0006695	HP:0006695	Atrioventricular canal defect	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39
HP:0006695	HP:0011578	Transitional atrioventricular canal defect	1	CL E G H
HP:0006695	HP:0011576	Intermediate atrioventricular canal defect	1	CL E G H
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0006695	HP:0011577	Partial atrioventricular canal defect	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0006695	HP:0010445	Primum atrial septal defect	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0006695	HP:0011579	Unbalanced atrioventricular canal defect	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0006695	HP:0011579	Unbalanced atrioventricular canal defect	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0006695	HP:0011577	Partial atrioventricular canal defect	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0006695	HP:0010445	Primum atrial septal defect	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0006695	HP:0010445	Primum atrial septal defect	1	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4	.	87
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.	37
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.	28
HP:0006695	HP:0010445	Primum atrial septal defect	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.	90
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.	3
HP:0006695	HP:0011579	Unbalanced atrioventricular canal defect	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0006695	HP:0011579	Unbalanced atrioventricular canal defect	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.	32
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0006695	HP:0010445	Primum atrial septal defect	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0006695	HP:0011579	Unbalanced atrioventricular canal defect	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	.	60
HP:0006695	HP:0001674	Complete atrioventricular canal defect	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39

Genes (58) :ACVR2B BRAF CCDC22 CCDC32 CDC45 CDH2 CFAP45 CFAP53 CFC1 CIROP CRELD1 DEF6 DHCR7 DNAH9 DOHH DYNC2LI1 ERCC4 EVC EVC2 FANCB FOXF1 GATA1 GATA4 GATA6 GDF1 GJA1 GLI1 GLI3 HYLS1 INTU IRX5 KAT6B KDM6A LONP1 LZTR1 MMP21 NEK1 NKX2-5 NKX2-6 NODAL NR2F2 PKD1L1 PRKACA PRKACB PTPN11 PUF60 RAF1 RBM8A SMAD2 SUPT16H TBX1 TBX5 TRIO TTC26 VPS35L WASHC5 WDPCP ZIC3

Diseases (57) :OMIM:613751 ORPHA:500 ORPHA:7 OMIM:619123 OMIM:617063 OMIM:618929 OMIM:619608 OMIM:614779 OMIM:605376 OMIM:619702 OMIM:606217 OMIM:619573 ORPHA:818 OMIM:618300 OMIM:620066 ORPHA:289 OMIM:617088 OMIM:615272 OMIM:314390 OMIM:265380 ORPHA:210122 OMIM:190685 ORPHA:251071 OMIM:607941 OMIM:614430 OMIM:614429 OMIM:614474 OMIM:217095 OMIM:613854 OMIM:208530 OMIM:600309 ORPHA:672 OMIM:236680 OMIM:617925 OMIM:611174 ORPHA:3047 OMIM:300867 OMIM:600373 OMIM:605275 OMIM:616749 ORPHA:2751 OMIM:270100 OMIM:615779 OMIM:617205 OMIM:619142 OMIM:619143 ORPHA:508488 ORPHA:508498 OMIM:274000 OMIM:619657 OMIM:619480 ORPHA:392 ORPHA:476126 OMIM:619534 OMIM:619135 OMIM:217085 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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