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:
Neurological speech impairment (HP:0002167)

..Starting node
..Anarthria (HP:0002425)

Term ID:

2425

Name:

Anarthria

Synonym:

Loss of articulate speech

Definition:

A defect in the motor ability that enables speech.

Comments:

Reference:

HP:0002425

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent speech (HP:0001344)

Alexia (HP:0010523)

Anomic aphasia (HP:0030784)

Aphasia (HP:0002381)

Deficit in nonword repetition (HP:0002526)

Dysarthria (HP:0001260)

Dysgraphia (HP:0010526)

Dysphasia (HP:0002357)

Dysphonia (HP:0001618)

Echolalia (HP:0010529)

Grammar-specific speech disorder (HP:0006977)

Incomprehensible speech (HP:0002546)

Loss of speech (HP:0002371)

Mutism (HP:0002300)

Palilalia (HP:0031814)

Poor speech (HP:0002465)

Scanning speech (HP:0002168)

Stuttering (HP:0025268)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002425	HP:0002425	Anarthria	0	ALS2 CL E G H	57679	293168				ORPHA	1	947	443	606352
HP:0002425	HP:0002425	Anarthria	0	ALS2 CL E G H	57679	205100	Amyotrophic lateral sclerosis type 2	205100	C1859807	OMIM	1	947	443	606352
HP:0002425	HP:0002425	Anarthria	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	947	443	606352
HP:0002425	HP:0002425	Anarthria	0	ATP13A2 CL E G H	23400	306674				ORPHA	1	974	30213	610513
HP:0002425	HP:0002425	Anarthria	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	974	30213	610513
HP:0002425	HP:0002425	Anarthria	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	185	3999	134790
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002425	HP:0002425	Anarthria	0	ALDH18A1 CL E G H	5832	447753				ORPHA	0	586	9722	138250
HP:0002425	HP:0002425	Anarthria	0	DNAJC6 CL E G H	9829	391411				ORPHA	0	310	15469	608375
HP:0002425	HP:0002425	Anarthria	0	PODXL CL E G H	5420	391411				ORPHA	0	200	9171	602632
HP:0002425	HP:0002425	Anarthria	0	SYNJ1 CL E G H	8867	391411				ORPHA	0	1315	11503	604297
HP:0002425	HP:0002425	Anarthria	0	TBCE CL E G H	6905	496756				ORPHA	0	456	11582	604934

Genes (8) :ALDH18A1 ALS2 ATP13A2 DNAJC6 FTL PODXL SYNJ1 TBCE

Diseases (9) :447753 293168 205100 607225 306674 606693 391411 606159 496756

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.