Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Neurological speech impairment (HP:0002167)help
..Starting node
..expand
Mutism (HP:0002300)help
Term ID: 2300
Name: Mutism
Synonym: Inability to speak; Muteness
Definition:
Comments:
Reference: HP:0002300
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent speech (HP:0001344) help
..expandAlexia (HP:0010523) help
..expandAnarthria (HP:0002425) help
..expandAnomia (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
..expandLoss of speech (HP:0002371) 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:0002300HP:0002300Mutism0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0002300HP:0002300Mutism0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0002300HP:0002300Mutism0ADAMTS2 CL E G H95091901ORPHA112577218604539
HP:0002300HP:0002300Mutism0ATP1A3 CL E G H47871517ORPHA1122407801182350
HP:0002300HP:0002300Mutism0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1122407801182350
HP:0002300HP:0002300Mutism0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM1229624537609512
HP:0002300HP:0002300Mutism0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA174226877616174
HP:0002300HP:0002300Mutism0COL1A1 CL E G H12771899ORPHA196711052197120150
HP:0002300HP:0002300Mutism0COL1A2 CL E G H12781899ORPHA15237942198120160
HP:0002300HP:0002300Mutism0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM11002582433164770
HP:0002300HP:0002300Mutism0EHMT1 CL E G H7981396147ORPHA19474624650607001
HP:0002300HP:0002300Mutism0FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0002300HP:0002300Mutism0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM164913999134790
HP:0002300HP:0002300Mutism0GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM12312684601138945
HP:0002300HP:0002300Mutism0KRAS CL E G H38452396ORPHA1452746407190070
HP:0002300HP:0002300Mutism0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM11203796893157140
HP:0002300HP:0002300Mutism0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM13407690602138
HP:0002300HP:0002300Mutism0PLEC CL E G H5339257ORPHA110427619069601282
HP:0002300HP:0002300Mutism0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM1117013993616639
HP:0002300HP:0002300Mutism0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM13831816266606152
HP:0002300HP:0002300Mutism0SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0002300HP:0002300Mutism0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0002300HP:0002300Mutism0SMARCA2 CL E G H65953051ORPHA17844511098600014
HP:0002300HP:0002300Mutism0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM19826711280601530
HP:0002300HP:0002300Mutism0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM113711811584604834
HP:0002300HP:0002300Mutism0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM1189111588600075
HP:0002300HP:0002300Mutism0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002300HP:0002300Mutism0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA04121926837300647
HP:0002300HP:0002300Mutism0C9orf72 CL E G H203228275864ORPHA02415828337614260
HP:0002300HP:0002300Mutism0C9orf72 CL E G H203228275872ORPHA02415828337614260
HP:0002300HP:0002300Mutism0C9orf72 CL E G H203228100070ORPHA02415828337614260
HP:0002300HP:0002300Mutism0CHCHD10 CL E G H400916275872ORPHA02716315559615903
HP:0002300HP:0002300Mutism0CHMP2B CL E G H25978275864ORPHA0229624537609512
HP:0002300HP:0002300Mutism0CHMP2B CL E G H25978100070ORPHA0229624537609512
HP:0002300HP:0002300Mutism0COX7B CL E G H13492556ORPHA051642291300885
HP:0002300HP:0002300Mutism0FUS CL E G H2521275872ORPHA01132644010137070
HP:0002300HP:0002300Mutism0GRN CL E G H2896100070ORPHA02312684601138945
HP:0002300HP:0002300Mutism0GRN CL E G H2896275864ORPHA02312684601138945
HP:0002300HP:0002300Mutism0HCCS CL E G H30522556ORPHA0142014837300056
HP:0002300HP:0002300Mutism0HNRNPA1 CL E G H317852430ORPHA012535031164017
HP:0002300HP:0002300Mutism0HNRNPA2B1 CL E G H318152430ORPHA05735033600124
HP:0002300HP:0002300Mutism0MAPT CL E G H4137100070ORPHA01203796893157140
HP:0002300HP:0002300Mutism0MAPT CL E G H4137275864ORPHA01203796893157140
HP:0002300HP:0002300Mutism0NDUFB11 CL E G H545392556ORPHA0616320372300403
HP:0002300HP:0002300Mutism0PRDM8 CL E G H56978324290ORPHA0117013993616639
HP:0002300HP:0002300Mutism0PSEN1 CL E G H5663100070ORPHA03203699508104311
HP:0002300HP:0002300Mutism0PSEN1 CL E G H5663275864ORPHA03203699508104311
HP:0002300HP:0002300Mutism0SQSTM1 CL E G H8878275864ORPHA09826711280601530
HP:0002300HP:0002300Mutism0SQSTM1 CL E G H8878275872ORPHA09826711280601530
HP:0002300HP:0002300Mutism0TARDBP CL E G H23435275872ORPHA07018411571605078
HP:0002300HP:0002300Mutism0TBK1 CL E G H29110275872ORPHA013711811584604834
HP:0002300HP:0002300Mutism0TMEM106B CL E G H54664100070ORPHA035222407613413
HP:0002300HP:0002300Mutism0TMEM106B CL E G H54664275864ORPHA035222407613413
HP:0002300HP:0002300Mutism0TREM2 CL E G H54209100070ORPHA0565917761605086
HP:0002300HP:0002300Mutism0TREM2 CL E G H54209275864ORPHA0565917761605086
HP:0002300HP:0002300Mutism0VCP CL E G H7415100070ORPHA06526012666601023
HP:0002300HP:0002300Mutism0VCP CL E G H7415275864ORPHA06526012666601023
HP:0002300HP:0002300Mutism0VCP CL E G H741552430ORPHA06526012666601023
HP:0002300HP:0002300Mutism0VCP CL E G H7415275872ORPHA06526012666601023


Genes (39) :ACTB ACTG1 ADAMTS2 AMER1 ATP1A3 C9ORF72 CHCHD10 CHMP2B CKAP2L COL1A1 COL1A2 COX7B CSF1R EHMT1 FGFR1 FTL FUS GRN HCCS HNRNPA1 HNRNPA2B1 KRAS MAPT NDUFA6 NDUFB11 PLEC PRDM8 PSEN1 SLC19A3 SLC9A6 SMARCA2 SQSTM1 TARDBP TBK1 TBP TCF4 TMEM106B TREM2 VCP

Diseases (31) :2995 1901 2780 71517 128235 275864 100070 275872 600795 3255 1899 2556 221820 96147 2396 606159 607485 52430 601104 618253 257 324290 616640 607483 85278 300243 3051 616437 616439 607136 2896
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.