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:
EEG with focal epileptiform discharges (HP:0011185)

Parent Node:
EEG with focal spikes (HP:0011193)

..Starting node
..EEG with series of focal spikes (HP:0011194)

Term ID:

11194

Name:

EEG with series of focal spikes

Synonym:

Definition:

Focal spikes occurring for several seconds.

Comments:

Reference:

HP:0011194

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with central focal spikes (HP:0012014)

EEG with frontal focal spikes (HP:0012015)

EEG with occipital focal spikes (HP:0012016)

EEG with parietal focal spikes (HP:0012017)

EEG with temporal focal spikes (HP:0012018)

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:0011194	HP:0011194	EEG with series of focal spikes	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1

Genes (1) :SYT1

Diseases (1) :ORPHA:522077

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