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 ventricle morphology (HP:0001713)

Grandparent Node:
Vascular dilatation (HP:0002617)

Parent Node:
Cardiac diverticulum (HP:0100571)

Parent Node:
Dilatation of the ventricular cavity (HP:0006698)

..Starting node
..Fibrous cardiac diverticulum (HP:0100572)

Term ID:

100572

Name:

Fibrous cardiac diverticulum

Synonym:

Congenital ventricular aneurysm

Definition:

A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.

Comments:

Reference:

HP:0100572

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100572	HP:0100572	Fibrous cardiac diverticulum	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.