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:
EEG abnormality (HP:0002353)

Parent Node:
EEG with abnormally slow frequencies (HP:0011203)

..Starting node
..EEG with focal slow activity (HP:0010843)

Term ID:

10843

Name:

EEG with focal slow activity

Synonym:

EEG: focal slow activity; EEG: localised slow activity; EEG: localized slow activity

Definition:

Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).

Comments:

Reference:

HP:0010843

Genes and Diseases:

Child Nodes:

........

EEG with occipital slowing (HP:0011210)

Sister Nodes:

EEG with generalized slow activity (HP:0010845)

EEG with multifocal slow activity (HP:0010844)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010843	HP:0010843	EEG with focal slow activity	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	12
HP:0010843	HP:0011210	EEG with occipital slowing	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	12

Genes (1) :GNB1

Diseases (1) :OMIM:616973

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