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 heart morphology (HP:0001627)

Parent Node:
Abnormal spatial orientation of the cardiac segments (HP:0011534)

..Starting node
..L-looping of the right ventricle (HP:0011544)

Term ID:

11544

Name:

L-looping of the right ventricle

Synonym:

Definition:

Comments:

Reference:

HP:0011544

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal atrial arrangement (HP:0011535)

Congenitally corrected transposition of the great arteries (HP:0011540)

Criss-cross atrioventricular valves (HP:0011541)

Situs inversus totalis (HP:0001696)

Situs inversus with levocardia (HP:0031592)

Superior-inferior ventricles without criss-cross atrioventricular valves (HP:0011543)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011544	HP:0011544	L-looping of the right ventricle	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.