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:
Focal-onset seizure (HP:0007359)

Parent Node:
Focal sensory seizure (HP:0011157)

..Starting node
..Focal sensory seizure with visual features (HP:0011165)

Term ID:

11165

Name:

Focal sensory seizure with visual features

Synonym:

Focal visual seizure; Partial visual seizure; Simple partial occipital seizures; Visual aura; Visual auras

Definition:

A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.

Comments:

Reference:

HP:0011165

Genes and Diseases:

Child Nodes:

Sister Nodes:

Experiential epileptic aura (HP:0012002)

Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena (HP:0011159)

Focal sensory seizure with auditory features (HP:0011158)

Focal sensory seizure with gustatory features (HP:0011160)

Focal sensory seizure with olfactory features (HP:0011161)

Focal sensory seizure with somatosensory features (HP:0011163)

obsolete Psychic auras (HP:0011162)

obsolete Vegetative auras (HP:0011164)

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:0011165	HP:0011165	Focal sensory seizure with visual features	0	CNTN2 CL E G H	6900	2172	OMIM:615400	Epilepsy, familial adult myoclonic, 5	.	9
HP:0011165	HP:0011165	Focal sensory seizure with visual features	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional	83
HP:0011165	HP:0011165	Focal sensory seizure with visual features	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora		83
HP:0011165	HP:0011165	Focal sensory seizure with visual features	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0011165	HP:0011165	Focal sensory seizure with visual features	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0011165	HP:0011165	Focal sensory seizure with visual features	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional	77
HP:0011165	HP:0011165	Focal sensory seizure with visual features	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora		77
HP:0011165	HP:0011165	Focal sensory seizure with visual features	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0011165	HP:0032851	Focal aware sensory seizure with visual features	1	CL E G H
HP:0011165	HP:0032806	Focal impaired awareness sensory seizure with visual features	1	CL E G H

Genes (6) :CNTN2 EPM2A LGI1 MICAL1 NHLRC1 RELN

Diseases (4) :OMIM:615400 ORPHA:501 OMIM:254780 OMIM:600512

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

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