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 atrioventricular conduction (HP:0005150)

Grandparent Node:
Heart block (HP:0012722)

Parent Node:
Atrioventricular block (HP:0001678)

..Starting node
..Absent atrioventricular node (HP:0006681)

Term ID:

6681

Name:

Absent atrioventricular node

Synonym:

Definition:

Comments:

Reference:

HP:0006681

Genes and Diseases:

Child Nodes:

Sister Nodes:

First degree atrioventricular block (HP:0011705)

Second degree atrioventricular block (HP:0011706)

Third degree atrioventricular block (HP:0001709)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006681	HP:0006681	Absent atrioventricular node	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.