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:
Cognitive impairment (HP:0100543)

Parent Node:
Memory impairment (HP:0002354)

..Starting node
..Transient global amnesia (HP:0010534)

Term ID:

10534

Name:

Transient global amnesia

Synonym:

Definition:

A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.

Comments:

Reference:

HP:0010534

Genes and Diseases:

Child Nodes:

Sister Nodes:

Deficit in phonologic short-term memory (HP:0002549)

Progressive forgetfulness (HP:0007017)

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:0010534	HP:0010534	Transient global amnesia	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0010534	HP:0010534	Transient global amnesia	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0010534	HP:0010534	Transient global amnesia	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0010534	HP:0010534	Transient global amnesia	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0010534	HP:0010534	Transient global amnesia	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0010534	HP:0010534	Transient global amnesia	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	2
HP:0010534	HP:0010534	Transient global amnesia	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0010534	HP:0010534	Transient global amnesia	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0010534	HP:0010534	Transient global amnesia	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0010534	HP:0010534	Transient global amnesia	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	2
HP:0010534	HP:0010534	Transient global amnesia	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0010534	HP:0010534	Transient global amnesia	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0010534	HP:0010534	Transient global amnesia	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0010534	HP:0010534	Transient global amnesia	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0010534	HP:0010534	Transient global amnesia	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0010534	HP:0010534	Transient global amnesia	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0010534	HP:0010534	Transient global amnesia	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0010534	HP:0010534	Transient global amnesia	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0010534	HP:0010534	Transient global amnesia	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0010534	HP:0010534	Transient global amnesia	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7
HP:0010534	HP:0010534	Transient global amnesia	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	3

Genes (21) :AKT1 BAP1 CTSH HCRT HLA-DQB1 HLA-DRB1 MEN1 MOG NF2 P2RY11 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TNFSF4 TRAF7 YY1 ZNF365

Diseases (3) :ORPHA:2495 ORPHA:2073 ORPHA:97279

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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