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 cardiac atrium morphology (HP:0005120)

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

Parent Node:
Abnormal atrial arrangement (HP:0011535)

..Starting node
..Atrial situs inversus (HP:0011538)

Term ID:

11538

Name:

Atrial situs inversus

Synonym:

Definition:

Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.

Comments:

Reference:

HP:0011538

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrial situs ambiguous (HP:0011539)

Left atrial isomerism (HP:0011537)

Right atrial isomerism (HP:0011536)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011538	HP:0011538	Atrial situs inversus	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	3

Genes (1) :PKD1L1

Diseases (1) :OMIM:617205

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