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)

Parent Node:
Cor triatriatum (HP:0010774)

..Starting node
..Cor triatrium sinister (HP:0031134)

Term ID:

31134

Name:

Cor triatrium sinister

Synonym:

Definition:

A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.

Comments:

Reference:

HP:0031134

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cor triatriatum dexter (HP:0011566)

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:0031134	HP:0031134	Cor triatrium sinister	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	2

Genes (1) :MYRF

Diseases (1) :OMIM:618280

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