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 connection of the cardiac segments (HP:0011545)

Parent Node:
Abnormal atrioventricular connection (HP:0011546)

..Starting node
..Discordant atrioventricular connection (HP:0011553)

Term ID:

11553

Name:

Discordant atrioventricular connection

Synonym:

Discordant atrioventricular connexion

Definition:

Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.

Comments:

Reference:

HP:0011553

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent left sided atrioventricular connection (HP:0011547)

Absent right sided atrioventricular connection (HP:0011548)

Ambiguous atrioventricular connection (HP:0011552)

Double inlet atrioventricular connection (HP:0011554)

Mitral atresia (HP:0011560)

Overriding atrioventricular valve (HP:0011561)

Straddling atrioventricular valve (HP:0011562)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011553	HP:0011553	Discordant atrioventricular connection	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12

Genes (1) :CIROP

Diseases (1) :OMIM:619702

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.