Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 somatosensory features (HP:0011163)

Term ID:

11163

Name:

Focal sensory seizure with somatosensory features

Synonym:

Focal somatosensory seizure; Partial somatosensory seizure; Somatosensory aura; Somatosensory auras

Definition:

A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.

Comments:

Reference:

HP:0011163

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 visual features (HP:0011165)

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:0011163	HP:0011163	Focal sensory seizure with somatosensory features	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0011163	HP:0032890	Focal impaired awareness sensory seizure with somatosensory features	1	CL E G H
HP:0011163	HP:0032884	Focal aware sensory seizure with somatosensory features	1	CL E G H

Genes (1) :TREX1

Diseases (1) :ORPHA:247691

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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