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
..Overriding atrioventricular valve (HP:0011561)

Term ID:

11561

Name:

Overriding atrioventricular valve

Synonym:

Definition:

An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.

Comments:

Reference:

HP:0011561

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)

Discordant atrioventricular connection (HP:0011553)

Double inlet atrioventricular connection (HP:0011554)

Mitral atresia (HP:0011560)

Straddling atrioventricular valve (HP:0011562)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011561	HP:0011561	Overriding atrioventricular valve	0	CL E G H

Genes (0) :

Diseases (0) :

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