Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Neurological speech impairment (HP:0002167)help
..Starting node
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Anarthria (HP:0002425)help
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: 
..expandAbsent speech (HP:0001344) help
..expandAlexia (HP:0010523) help
..expandAnomic aphasia (HP:0030784) help
..expandAphasia (HP:0002381) help
..expandDeficit in nonword repetition (HP:0002526) help
..expandDysarthria (HP:0001260) help
..expandDysgraphia (HP:0010526) help
..expandDysphonia (HP:0001618) help
..expandEcholalia (HP:0010529) help
..expandGrammar-specific speech disorder (HP:0006977) help
..expandIncomprehensible speech (HP:0002546) help
..expandLoss of speech (HP:0002371) help
..expandMutism (HP:0002300) help
..expandobsolete Dysphasia (HP:0002357) help
..expandPalilalia (HP:0031814) help
..expandPoor speech (HP:0002465) help
..expandScanning speech (HP:0002168) help
..expandStuttering (HP:0025268) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002425HP:0002425Anarthria0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional89
HP:0002425HP:0002425Anarthria0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0002425HP:0002425Anarthria0ALS2 CL E G H57679443ORPHA:293168Infantile-onset ascending hereditary spastic paralysisHP:0040281 - Very frequent114
HP:0002425HP:0002425Anarthria0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0002425HP:0002425Anarthria0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0002425HP:0002425Anarthria0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0002425HP:0002425Anarthria0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0002425HP:0002425Anarthria0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040283 - Occasional6
HP:0002425HP:0002425Anarthria0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0002425HP:0002425Anarthria0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional7
HP:0002425HP:0002425Anarthria0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0002425HP:0002425Anarthria0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0002425HP:0002425Anarthria0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0002425HP:0002425Anarthria0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040283 - Occasional6
HP:0002425HP:0002425Anarthria0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0002425HP:0002425Anarthria0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0002425HP:0002425Anarthria0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0002425HP:0002425Anarthria0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040283 - Occasional9
HP:0002425HP:0002425Anarthria0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040283 - Occasional52
HP:0002425HP:0002425Anarthria0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040282 - Frequent35


Genes (16) :ALDH18A1 ALS2 ATP13A2 DNAJC6 FA2H FAR1 FTL FUS KMT2B PODXL SIGMAR1 SPG11 SPTLC1 SYNJ1 TBCE UBA1

Diseases (13) :ORPHA:447753 OMIM:205100 ORPHA:293168 ORPHA:300605 OMIM:607225 OMIM:606693 ORPHA:306674 ORPHA:391411 ORPHA:329308 OMIM:606159 ORPHA:589618 ORPHA:496756 ORPHA:1145
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.