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 exercise stress test (HP:0500018)

Term ID:

500018

Name:

Abnormal cardiac exercise stress test

Synonym:

Abnormal cardiac exercise test; Abnormal exercise test; Abnormal treadmill test

Definition:

Abnormal results of exercise on heart function.

Comments:

Reference:

HP:0500018

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cardiac biomarker test (HP:0500020)

Abnormal cardiac catheterization (HP:0500017)

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	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	289
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	539
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	572
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	18
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	13
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	16
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	148
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	148
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	43
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	901
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	128
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	730
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	4
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	146
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	110
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	1134
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	118
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	123
HP:0500018	HP:0500018	Abnormal cardiac exercise stress test	0	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	145

Genes (19) :AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 NOS1AP SCN10A SCN4B SCN5A SNTA1 TBX5 TRDN

Diseases (1) :ORPHA:101016

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

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