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
..Focal aware sensory seizure with auditory features (HP:0032864)

Term ID:

32864

Name:

Focal aware sensory seizure with auditory features

Synonym:

Definition:

A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.

Comments:

Reference:

HP:0032864

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:0032864	HP:0032864	Focal aware sensory seizure with auditory features	0	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8	1
HP:0032864	HP:0032864	Focal aware sensory seizure with auditory features	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1	75
HP:0032864	HP:0032864	Focal aware sensory seizure with auditory features	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0032864	HP:0032864	Focal aware sensory seizure with auditory features	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1	334

Genes (4) :GAL LGI1 MICAL1 RELN

Diseases (2) :OMIM:616461 OMIM:600512

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