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 generalized epileptiform discharges (HP:0011198)

..Starting node
..EEG with generalized polymorphic epileptiform discharges (HP:0011200)

Term ID:

11200

Name:

EEG with generalized polymorphic epileptiform discharges

Synonym:

EEG with generalised polymorphic epileptiform discharges

Definition:

Generalized epileptiform discharges of different shapes and frequencies.

Comments:

Reference:

HP:0011200

Genes and Diseases:

Child Nodes:

........

EEG with periodic abnormalities (HP:0010857)

................... HP:0010856 EEG with periodic complexes

Sister Nodes:

EEG with burst suppression (HP:0010851)

EEG with generalized polyspikes (HP:0012001)

EEG with generalized sharp slow waves (HP:0011199)

EEG with generalized spikes (HP:0012000)

EEG with spike-wave complexes (HP:0010850)

Hypsarrhythmia (HP:0002521)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011200	HP:0011200	EEG with generalized polymorphic epileptiform discharges	0	CL E G H
HP:0011200	HP:0010857	EEG with periodic abnormalities	1	CL E G H
HP:0011200	HP:0010856	EEG with periodic complexes	2	CL E G H

Genes (0) :

Diseases (0) :

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