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

..Starting node
..EEG with occipital epileptiform discharges (HP:0033720)

Term ID:

33720

Name:

EEG with occipital epileptiform discharges

Synonym:

Definition:

Focal epileptiform EEG discharges recorded in the occipital region.

Comments:

Reference:

HP:0033720

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033720	HP:0033720	EEG with occipital epileptiform discharges	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0033720	HP:0033720	EEG with occipital epileptiform discharges	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0033720	HP:0033720	EEG with occipital epileptiform discharges	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS	1
HP:0033720	HP:0012011	EEG with occipital focal spike waves	1	CL E G H
HP:0033720	HP:0011292	EEG with occipital sharp waves	1	CL E G H
HP:0033720	HP:0011287	EEG with occipital sharp slow waves	1	CL E G H
HP:0033720	HP:0012016	EEG with occipital focal spikes	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF

Genes (3) :TBC1D2B TFE3 TRIM8

Diseases (3) :OMIM:619323 OMIM:301066 OMIM:619428

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