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 cardiac septum morphology (HP:0001671)

Parent Node:
Atrioventricular canal defect (HP:0006695)

..Starting node
..Complete atrioventricular canal defect (HP:0001674)

Term ID:

1674

Name:

Complete atrioventricular canal defect

Synonym:

Atrioventricular canal; Common atrioventricular canal; Complete atrioventricular septal defect; Complete common AV canal

Definition:

A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.

Comments:

Reference:

HP:0001674

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intermediate atrioventricular canal defect (HP:0011576)

Partial atrioventricular canal defect (HP:0011577)

Primum atrial septal defect (HP:0010445)

Transitional atrioventricular canal defect (HP:0011578)

Unbalanced atrioventricular canal defect (HP:0011579)

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:0001674	HP:0001674	Complete atrioventricular canal defect	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.	37
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.	28
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.	90
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.	3
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.	32
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	.	60
HP:0001674	HP:0001674	Complete atrioventricular canal defect	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39

Genes (17) :ACVR2B CDC45 CIROP GATA1 GATA6 GDF1 HYLS1 INTU IRX5 NKX2-5 NKX2-6 PRKACA PUF60 TBX1 TRIO WDPCP ZIC3

Diseases (15) :OMIM:613751 OMIM:617063 OMIM:619702 OMIM:190685 OMIM:217095 OMIM:613854 OMIM:208530 OMIM:236680 OMIM:617925 OMIM:611174 OMIM:619142 ORPHA:508488 ORPHA:476126 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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