Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Neurological speech impairment (HP:0002167)

..Starting node
..Grammar-specific speech disorder (HP:0006977)

Term ID:

6977

Name:

Grammar-specific speech disorder

Synonym:

Grammar-specific speech disorder

Definition:

Comments:

Reference:

HP:0006977

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent speech (HP:0001344)

Alexia (HP:0010523)

Anarthria (HP:0002425)

Anomic aphasia (HP:0030784)

Aphasia (HP:0002381)

Deficit in nonword repetition (HP:0002526)

Dysarthria (HP:0001260)

Dysgraphia (HP:0010526)

Dysphonia (HP:0001618)

Echolalia (HP:0010529)

Incomprehensible speech (HP:0002546)

Loss of speech (HP:0002371)

Mutism (HP:0002300)

obsolete Dysphasia (HP:0002357)

Palilalia (HP:0031814)

Poor speech (HP:0002465)

Scanning speech (HP:0002168)

Stuttering (HP:0025268)

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:0006977	HP:0006977	Grammar-specific speech disorder	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	56
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	42
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent	143
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1		143
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	126
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	140
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent	140
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	241
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	31
HP:0006977	HP:0006977	Grammar-specific speech disorder	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	63

Genes (10) :C9ORF72 CHMP2B FOXP2 GALT GRN MAPT PSEN1 TMEM106B TREM2 VCP

Diseases (5) :ORPHA:100070 ORPHA:209908 OMIM:602081 ORPHA:79239 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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