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:
Abnormality of central nervous system electrophysiology (HP:0030178)

Parent Node:
EEG abnormality (HP:0002353)

..Starting node
..EEG with constitutional variants (HP:0011176)

Term ID:

11176

Name:

EEG with constitutional variants

Synonym:

Definition:

An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.

Comments:

Reference:

HP:0011176

Genes and Diseases:

Child Nodes:

........

EEG with persistent abnormal rhythmic activity (HP:0010846)

........

EEG with 4-5/second background activity (HP:0011177)

........

Alpha-EEG (HP:0011178)

........

Beta-EEG (HP:0011179)

................... HP:0011180 Partial beta-EEG

........

Low voltage EEG (HP:0011181)

Sister Nodes:

EEG with abnormally slow frequencies (HP:0011203)

EEG with changes in voltage (HP:0011201)

EEG with diffuse acceleration (HP:0011202)

EEG with photoparoxysmal response (HP:0010852)

Interictal EEG abnormality (HP:0025373)

Interictal epileptiform activity (HP:0011182)

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:0011176	HP:0011176	EEG with constitutional variants	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0011176	HP:0011176	EEG with constitutional variants	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0011176	HP:0011181	Low voltage EEG	1	CL E G H
HP:0011176	HP:0011179	Beta-EEG	1	CL E G H
HP:0011176	HP:0011178	Alpha-EEG	1	CL E G H
HP:0011176	HP:0011177	EEG with 4-5/second background activity	1	CL E G H
HP:0011176	HP:0010846	EEG with persistent abnormal rhythmic activity	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0011176	HP:0010846	EEG with persistent abnormal rhythmic activity	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0011176	HP:0011180	Partial beta-EEG	2	CL E G H

Genes (2) :GALC PRNP

Diseases (2) :ORPHA:206443 ORPHA:282166

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