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
..Hemihypsarrhythmia (HP:0011215)

Term ID:

11215

Name:

Hemihypsarrhythmia

Synonym:

Definition:

Hypsarrhythmia occurring in one hemisphere.

Comments:

Reference:

HP:0011215

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 EEG discharges with secondary generalization (HP:0011188)

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

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:0011215	HP:0011215	Hemihypsarrhythmia	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0011215	HP:0011215	Hemihypsarrhythmia	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0011215	HP:0011215	Hemihypsarrhythmia	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162

Genes (3) :AKT3 MTOR PIK3CA

Diseases (1) :ORPHA:99802

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