Human Phenotype Ontology

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:
EEG with focal epileptiform discharges (HP:0011185)

Parent Node:
EEG with focal spike waves (HP:0011197)

..Starting node
..EEG with parietal focal spike waves (HP:0012012)

Term ID:

12012

Name:

EEG with parietal focal spike waves

Synonym:

Definition:

EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.

Comments:

Reference:

HP:0012012

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with central focal spike waves (HP:0012009)

EEG with centrotemporal focal spike waves (HP:0012557)

EEG with frontal focal spike waves (HP:0012010)

EEG with occipital focal spike waves (HP:0012011)

EEG with temporal focal spike waves (HP:0012013)

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:0012012	HP:0012012	EEG with parietal focal spike waves	0	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	HP:0040282 - Frequent	271

Genes (1) :TBC1D24

Diseases (1) :ORPHA:163727

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