Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 biomarker test (HP:0500020)

Term ID:

500020

Name:

Abnormal cardiac biomarker test

Synonym:

Definition:

Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.

Comments:

Reference:

HP:0500020

Genes and Diseases:

Child Nodes:

........

Increased troponin I level in blood (HP:0410173)

........

Increased troponin T level in blood (HP:0410174)

Sister Nodes:

Abnormal cardiac catheterization (HP:0500017)

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	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:0500020	HP:0500020	Abnormal cardiac biomarker test	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0500020	HP:0500020	Abnormal cardiac biomarker test	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0500020	HP:0500020	Abnormal cardiac biomarker test	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0500020	HP:0500020	Abnormal cardiac biomarker test	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0500020	HP:0500020	Abnormal cardiac biomarker test	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0500020	HP:0410173	Increased circulating troponin I concentration	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0500020	HP:0410174	Increased circulating troponin T concentration	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	13
HP:0500020	HP:0410174	Increased circulating troponin T concentration	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	1134
HP:0500020	HP:0410173	Increased circulating troponin I concentration	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0500020	HP:0410174	Increased circulating troponin T concentration	1	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107

Genes (5) :DSG2 NPPA SCN5A SVIL TTR

Diseases (4) :OMIM:610193 ORPHA:1344 OMIM:619040 ORPHA:85451

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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