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:
Arrhythmia (HP:0011675)

Parent Node:
Cardiac arrest (HP:0001695)

..Starting node
..Aborted sudden cardiac death (HP:0031628)

Term ID:

31628

Name:

Aborted sudden cardiac death

Synonym:

Sudden cardiac arrest

Definition:

Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.

Comments:

Reference:

HP:0031628

Genes and Diseases:

Child Nodes:

Sister Nodes:

Sudden cardiac death (HP:0001645)

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:0031628	HP:0031628	Aborted sudden cardiac death	0	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8	572
HP:0031628	HP:0031628	Aborted sudden cardiac death	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	58
HP:0031628	HP:0031628	Aborted sudden cardiac death	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	235
HP:0031628	HP:0031628	Aborted sudden cardiac death	0	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA	1103

Genes (4) :CACNA1C PGM1 PRKAG2 RYR2

Diseases (4) :OMIM:618447 OMIM:614921 OMIM:600858 OMIM:115000

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