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 focal epileptiform discharges (HP:0011185)

..Starting node
..Focal EEG discharges with secondary generalization (HP:0011188)

Term ID:

11188

Name:

Focal EEG discharges with secondary generalization

Synonym:

Focal EEG discharges with secondary generalisation

Definition:

Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.

Comments:

Reference:

HP:0011188

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with focal sharp slow waves (HP:0011195)

EEG with focal sharp waves (HP:0011196)

EEG with focal spike waves (HP:0011197)

EEG with focal spikes (HP:0011193)

Focal EEG discharges with propagation to ipsilateral hemisphere (HP:0011187)

Focal epileptiform discharges with limited propagation to contralateral hemisphere (HP:0011186)

Hemihypsarrhythmia (HP:0011215)

Multifocal epileptiform discharges (HP:0010841)

Polymorphic focal epileptiform discharges (HP:0011192)

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:0011188	HP:0011188	Focal EEG discharges with secondary generalization	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040281 - Very frequent	528
HP:0011188	HP:0011188	Focal EEG discharges with secondary generalization	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040281 - Very frequent	302
HP:0011188	HP:0011188	Focal EEG discharges with secondary generalization	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent	106
HP:0011188	HP:0011188	Focal EEG discharges with secondary generalization	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent	950

Genes (4) :KCNQ2 KCNQ3 KCTD7 MECP2

Diseases (3) :ORPHA:1949 ORPHA:263516 ORPHA:3077

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