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

..Starting node
..Absent P wave (HP:0033122)

Term ID:

33122

Name:

Absent P wave

Synonym:

Absence of P wave on electrocardiography

Definition:

The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.

Comments:

Reference:

HP:0033122

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033122	HP:0033122	Absent P wave	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	107
HP:0033122	HP:0033122	Absent P wave	0	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2	13
HP:0033122	HP:0033122	Absent P wave	0	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1	1134

Genes (3) :EMD NPPA SCN5A

Diseases (3) :OMIM:310300 OMIM:615745 OMIM:608567

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