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:
Focal motor seizure (HP:0011153)

Parent Node:
Focal clonic seizure (HP:0002266)

..Starting node
..Focal hemifacial clonic seizure (HP:0007332)

Term ID:

7332

Name:

Focal hemifacial clonic seizure

Synonym:

Hemifacial seizures

Definition:

Focal seizure characterized at onset by clonic movements affecting half of the face.

Comments:

Reference:

HP:0007332

Genes and Diseases:

Child Nodes:

Sister Nodes:

Focal hemiclonic seizure (HP:0006813)

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:0007332	HP:0007332	Focal hemifacial clonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	139
HP:0007332	HP:0007332	Focal hemifacial clonic seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	434
HP:0007332	HP:0007332	Focal hemifacial clonic seizure	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	50
HP:0007332	HP:0007332	Focal hemifacial clonic seizure	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.	271
HP:0007332	HP:0007332	Focal hemifacial clonic seizure	0	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	HP:0040282 - Frequent	271
HP:0007332	HP:0032854	Focal aware hemifacial clonic seizure	1	CL E G H
HP:0007332	HP:0032847	Focal impaired awareness hemifacial clonic seizure	1	CL E G H

Genes (4) :GABRG2 GRIN2A SRPX2 TBC1D24

Diseases (3) :ORPHA:1945 OMIM:608105 ORPHA:163727

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