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
..Short term memory impairment (HP:0033687)

Term ID:

33687

Name:

Short term memory impairment

Synonym:

Short term memory loss

Definition:

A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).

Comments:

Reference:

HP:0033687

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033687	HP:0033687	Short term memory impairment	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0033687	HP:0033687	Short term memory impairment	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome		140
HP:0033687	HP:0033687	Short term memory impairment	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease		69
HP:0033687	HP:0033687	Short term memory impairment	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0033687	HP:0033687	Short term memory impairment	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0033687	HP:0033687	Short term memory impairment	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0033687	HP:0002549	Deficit in phonologic short-term memory	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040284 - Very rare	53
HP:0033687	HP:0002549	Deficit in phonologic short-term memory	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent	140
HP:0033687	HP:0002549	Deficit in phonologic short-term memory	1	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent	69
HP:0033687	HP:0002549	Deficit in phonologic short-term memory	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	3
HP:0033687	HP:0002549	Deficit in phonologic short-term memory	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	125

Genes (6) :GSN MAPT PRNP RNASEH1 RRM2B TTPA

Diseases (5) :ORPHA:85448 ORPHA:240112 ORPHA:280397 ORPHA:329336 OMIM:277460

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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