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 sensory seizure (HP:0011157)

Parent Node:
Experiential epileptic aura (HP:0012002)

..Starting node
..Focal cognitive seizure with deja vu/jamais vu (HP:0012004)

Term ID:

12004

Name:

Focal cognitive seizure with deja vu/jamais vu

Synonym:

Mnemonic aura; Mnemonic auras

Definition:

A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.

Comments:

Reference:

HP:0012004

Genes and Diseases:

Child Nodes:

........

Deja vu (HP:0012005)

........

Jamais vu (HP:0012006)

Sister Nodes:

Affective epileptic aura (HP:0012003)

Focal cognitive seizure with hallucination (HP:0012007)

Focal cognitive seizure with illusion (HP:0012008)

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:0012004	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci		172
HP:0012004	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	0	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0012004	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0012004	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0012004	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci		4
HP:0012004	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci		7
HP:0012004	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0012004	HP:0012006	Jamais vu aura	1	CL E G H
HP:0012004	HP:0032883	Focal aware cognitive seizure with deja vu/jamais vu	1	CL E G H
HP:0012004	HP:0032882	Focal impaired awareness cognitive seizure with deja vu/jamais vu	1	CL E G H
HP:0012004	HP:0012005	Deja vu aura	1	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	172
HP:0012004	HP:0012005	Deja vu aura	1	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0012004	HP:0012005	Deja vu aura	1	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0012004	HP:0012005	Deja vu aura	1	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0012004	HP:0012005	Deja vu aura	1	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	4
HP:0012004	HP:0012005	Deja vu aura	1	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	7
HP:0012004	HP:0012005	Deja vu aura	1	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334

Genes (7) :DEPDC5 GAL LGI1 MICAL1 NPRL2 NPRL3 RELN

Diseases (3) :ORPHA:98820 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.

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