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:
Abnormal cardiac test (HP:0500015)

Grandparent Node:
Abnormality of cardiovascular system electrophysiology (HP:0030956)

Parent Node:
Abnormal EKG (HP:0003115)

..Starting node
..Abnormal P wave (HP:0031595)

Term ID:

31595

Name:

Abnormal P wave

Synonym:

Definition:

Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.

Comments:

Reference:

HP:0031595

Genes and Diseases:

Child Nodes:

........

Notched P wave (HP:0031598)

........

P mitrale (HP:0031599)

........

P wave inversion (HP:0031600)

........

P pulmonale (HP:0031601)

Sister Nodes:

Abnormal PR interval (HP:0031593)

Abnormal PR segment (HP:0031596)

Abnormal QRS complex (HP:0025074)

Abnormal QT interval (HP:0031547)

Abnormal ST segment (HP:0012249)

Abnormal T-wave (HP:0005135)

Abnormal U wave (HP:0025070)

J wave (HP:0012272)

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:0031595	HP:0031595	Abnormal P wave	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0031595	HP:0031595	Abnormal P wave	0	GJA5 CL E G H	2702	4279	OMIM:614049	Atrial fibrillation, familial, 11		39
HP:0031595	HP:0031595	Abnormal P wave	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040281 - Very frequent	13
HP:0031595	HP:0031595	Abnormal P wave	0	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2		13
HP:0031595	HP:0031595	Abnormal P wave	0	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0031595	HP:0031595	Abnormal P wave	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040281 - Very frequent	1134
HP:0031595	HP:0031595	Abnormal P wave	0	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0031595	HP:0031595	Abnormal P wave	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0031595	HP:0031601	P pulmonale	1	CL E G H
HP:0031595	HP:0031600	P wave inversion	1	CL E G H
HP:0031595	HP:0031599	P mitrale	1	CL E G H
HP:0031595	HP:0031598	Notched P wave	1	CL E G H
HP:0031595	HP:0033122	Absent P wave	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0031595	HP:0034308	Prolonged P wave	1	GJA5 CL E G H	2702	4279	OMIM:614049	Atrial fibrillation, familial, 11		39
HP:0031595	HP:0033122	Absent P wave	1	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2		13
HP:0031595	HP:0034308	Prolonged P wave	1	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0031595	HP:0033122	Absent P wave	1	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134

Genes (6) :EMD GJA5 NPPA SCN3B SCN5A TLL1

Diseases (7) :OMIM:310300 OMIM:614049 ORPHA:1344 OMIM:615745 OMIM:613120 OMIM:608567 ORPHA:99106

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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