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
..expand
Loss of speech (HP:0002371)help
Term ID: 2371
Name: Loss of speech
Synonym: Loss of speech
Definition:
Comments:
Reference: HP:0002371
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent speech (HP:0001344) help
..expandAlexia (HP:0010523) help
..expandAnarthria (HP:0002425) 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
..expandDysphasia (HP:0002357) help
..expandDysphonia (HP:0001618) help
..expandEcholalia (HP:0010529) help
..expandGrammar-specific speech disorder (HP:0006977) help
..expandIncomprehensible speech (HP:0002546) help
..expandMutism (HP:0002300) help
..expandPalilalia (HP:0031814) help
..expandPoor speech (HP:0002465) help
..expandScanning speech (HP:0002168) help
..expandStuttering (HP:0025268) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002371HP:0002371Loss of speech0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0002371HP:0002371Loss of speech0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1122061300371
HP:0002371HP:0002371Loss of speech0ADAR CL E G H10351ORPHA1818225146920
HP:0002371HP:0002371Loss of speech0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1818225146920
HP:0002371HP:0002371Loss of speech0ALS2 CL E G H57679247604ORPHA1754443606352
HP:0002371HP:0002371Loss of speech0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1953713607574
HP:0002371HP:0002371Loss of speech0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM143515832606158
HP:0002371HP:0002371Loss of speech0C9orf72 CL E G H203228275864ORPHA117328337614260
HP:0002371HP:0002371Loss of speech0CHMP2B CL E G H25978275864ORPHA114124537609512
HP:0002371HP:0002371Loss of speech0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM114124537609512
HP:0002371HP:0002371Loss of speech0ERLIN2 CL E G H11160247604ORPHA11591356611605
HP:0002371HP:0002371Loss of speech0GM2A CL E G H2760309246ORPHA11664367613109
HP:0002371HP:0002371Loss of speech0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11664367613109
HP:0002371HP:0002371Loss of speech0GRN CL E G H2896275864ORPHA14174601138945
HP:0002371HP:0002371Loss of speech0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0002371HP:0002371Loss of speech0IFIH1 CL E G H6413551ORPHA189218873606951
HP:0002371HP:0002371Loss of speech0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM116714282611720
HP:0002371HP:0002371Loss of speech0MAPT CL E G H4137275864ORPHA15146893157140
HP:0002371HP:0002371Loss of speech0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM116937897607623
HP:0002371HP:0002371Loss of speech0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM118314537601015
HP:0002371HP:0002371Loss of speech0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM15169325600722
HP:0002371HP:0002371Loss of speech0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM15989498176801
HP:0002371HP:0002371Loss of speech0PSEN1 CL E G H5663275864ORPHA14529508104311
HP:0002371HP:0002371Loss of speech0RNASEH2A CL E G H1053551ORPHA131418518606034
HP:0002371HP:0002371Loss of speech0RNASEH2B CL E G H7962151ORPHA133425671610326
HP:0002371HP:0002371Loss of speech0RNASEH2C CL E G H8415351ORPHA123524116610330
HP:0002371HP:0002371Loss of speech0SAMHD1 CL E G H2593951ORPHA154815925606754
HP:0002371HP:0002371Loss of speech0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1301329604604
HP:0002371HP:0002371Loss of speech0SPG7 CL E G H668735689ORPHA177811237602783
HP:0002371HP:0002371Loss of speech0SQSTM1 CL E G H8878275864ORPHA154211280601530
HP:0002371HP:0002371Loss of speech0TMEM106B CL E G H54664275864ORPHA18722407613413
HP:0002371HP:0002371Loss of speech0TREM2 CL E G H54209275864ORPHA111017761605086
HP:0002371HP:0002371Loss of speech0TREX1 CL E G H1127751ORPHA132712269606609
HP:0002371HP:0002371Loss of speech0VCP CL E G H7415275864ORPHA147312666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002371HP:0002371Loss of speech0ALDH18A1 CL E G H5832447760ORPHA04379722138250
HP:0002371HP:0002371Loss of speech0ARSA CL E G H410309256ORPHA0953713607574
HP:0002371HP:0002371Loss of speech0ARSA CL E G H410309271ORPHA0953713607574
HP:0002371HP:0002371Loss of speech0ARSA CL E G H410309263ORPHA0953713607574
HP:0002371HP:0002371Loss of speech0PSAP CL E G H5660309263ORPHA05989498176801
HP:0002371HP:0002371Loss of speech0PSAP CL E G H5660309256ORPHA05989498176801
HP:0002371HP:0002371Loss of speech0PSAP CL E G H5660309271ORPHA05989498176801
HP:0002371HP:0002371Loss of speech0TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM026117358606370


Genes (34) :AARS2 ABCD1 ADAR ALDH18A1 ALS2 ARSA BSCL2 C9ORF72 C9orf72 CHMP2B ERLIN2 GM2A GRN HGSNAT IFIH1 IRF2BPL MAPT NPC1 NPC2 PPT1 PSAP PSEN1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 SLC30A9 SPG7 SQSTM1 TMEM106B TPK1 TREM2 TREX1 VCP

Diseases (24) :615889 300100 51 615010 447760 247604 309271 309263 309256 250100 615924 275864 600795 309246 272750 252930 618088 257220 607625 256730 249900 617595 35689 614458
 

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