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:
obsolete Abnormal test result (HP:0500014)

Parent Node:
Abnormal cardiac test (HP:0500015)

..Starting node
..Abnormal cardiac catheterization (HP:0500017)

Term ID:

500017

Name:

Abnormal cardiac catheterization

Synonym:

Abnormal cardiac cath

Definition:

Abnormal results from the diagnostic tests resulting from cardiac catheterization.

Comments:

Reference:

HP:0500017

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cardiac biomarker test (HP:0500020)

Abnormal cardiac exercise stress test (HP:0500018)

Abnormal cardiac MRI (HP:0500016)

Abnormal echocardiogram (HP:0003116)

Abnormal EKG (HP:0003115)

Abnormal resting energy expenditure from metabolic cart test (HP:0500019)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0500017	HP:0500017	Abnormal cardiac catheterization	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.