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:
Interictal epileptiform activity (HP:0011182)

Parent Node:
EEG with generalized epileptiform discharges (HP:0011198)

..Starting node
..EEG with generalized spikes (HP:0012000)

Term ID:

12000

Name:

EEG with generalized spikes

Synonym:

EEG with generalised spikes

Definition:

EEG with generalized sharp transient waves of a duration less than 80 msec.

Comments:

Reference:

HP:0012000

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with burst suppression (HP:0010851)

EEG with generalized polymorphic epileptiform discharges (HP:0011200)

EEG with generalized polyspikes (HP:0012001)

EEG with generalized sharp slow waves (HP:0011199)

EEG with spike-wave complexes (HP:0010850)

Hypsarrhythmia (HP:0002521)

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:0012000	HP:0012000	EEG with generalized spikes	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	146
HP:0012000	HP:0012000	EEG with generalized spikes	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC	227

Genes (2) :CACNB4 CHD2

Diseases (2) :OMIM:613855 OMIM:615369

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