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 connection (HP:0011546)

Parent Node:
Absent left sided atrioventricular connection (HP:0011547)

..Starting node
..Univentricular heart with absent left sided atrioventricular connection (HP:0011549)

Term ID:

11549

Name:

Univentricular heart with absent left sided atrioventricular connection

Synonym:

Univentricular heart with absent left sided atrioventricular connexion

Definition:

Comments:

Reference:

HP:0011549

Genes and Diseases:

Child Nodes:

Sister Nodes:

Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection (HP:0011550)

Right sided atrium to left ventricle and absent left sided atrioventricular connection (HP:0011551)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011549	HP:0011549	Univentricular heart with absent left sided atrioventricular connection	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.