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:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Language impairment (HP:0002463)

..Starting node
..Spoken word recognition deficit (HP:0030391)

Term ID:

30391

Name:

Spoken word recognition deficit

Synonym:

Definition:

Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.

Comments:

Reference:

HP:0030391

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:0030391	HP:0030391	Spoken word recognition deficit	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	56
HP:0030391	HP:0030391	Spoken word recognition deficit	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	42
HP:0030391	HP:0030391	Spoken word recognition deficit	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent	434
HP:0030391	HP:0030391	Spoken word recognition deficit	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	126
HP:0030391	HP:0030391	Spoken word recognition deficit	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0030391	HP:0030391	Spoken word recognition deficit	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	140
HP:0030391	HP:0030391	Spoken word recognition deficit	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent	140
HP:0030391	HP:0030391	Spoken word recognition deficit	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	241
HP:0030391	HP:0030391	Spoken word recognition deficit	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0030391	HP:0030391	Spoken word recognition deficit	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	31
HP:0030391	HP:0030391	Spoken word recognition deficit	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	63

Genes (10) :C9ORF72 CHMP2B GRIN2A GRN HSD17B10 MAPT PSEN1 TMEM106B TREM2 VCP

Diseases (4) :ORPHA:100070 ORPHA:98818 ORPHA:391428 ORPHA:240112

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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