Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of higher mental function (HP:0011446)help
Parent Node:
expandNeurological speech impairment (HP:0002167)help
..Starting node
..expandDysphasia (HP:0002357)help
Term ID: 2357
Name: Dysphasia
Synonym:
Definition:
Comments:
Reference: HP:0002357
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
..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
..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:0002357HP:0002357Dysphasia0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1512132102630
HP:0002357HP:0002357Dysphasia0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1499144102560
HP:0002357HP:0002357Dysphasia0ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0002357HP:0002357Dysphasia0ARVCF CL E G H421567ORPHA1620728602269
HP:0002357HP:0002357Dysphasia0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM11117800182340
HP:0002357HP:0002357Dysphasia0ATRX CL E G H546847ORPHA11925886300032
HP:0002357HP:0002357Dysphasia0C9orf72 CL E G H203228100070ORPHA117728337614260
HP:0002357HP:0002357Dysphasia0C9orf72 CL E G H203228275864ORPHA117728337614260
HP:0002357HP:0002357Dysphasia0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM132481388601011
HP:0002357HP:0002357Dysphasia0CHMP2B CL E G H25978100070ORPHA116024537609512
HP:0002357HP:0002357Dysphasia0CHMP2B CL E G H25978275864ORPHA116024537609512
HP:0002357HP:0002357Dysphasia0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0002357HP:0002357Dysphasia0COL1A1 CL E G H12771899ORPHA124282197120150
HP:0002357HP:0002357Dysphasia0COL1A2 CL E G H12781899ORPHA117592198120160
HP:0002357HP:0002357Dysphasia0COMT CL E G H1312567ORPHA16102228116790
HP:0002357HP:0002357Dysphasia0EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0002357HP:0002357Dysphasia0FGFR1 CL E G H22602396ORPHA19363688136350
HP:0002357HP:0002357Dysphasia0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1218527310607273
HP:0002357HP:0002357Dysphasia0GP1BB CL E G H2812567ORPHA14794440138720
HP:0002357HP:0002357Dysphasia0GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM118364585138253
HP:0002357HP:0002357Dysphasia0GRN CL E G H2896100070ORPHA15944601138945
HP:0002357HP:0002357Dysphasia0GRN CL E G H2896275864ORPHA15944601138945
HP:0002357HP:0002357Dysphasia0GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM15944601138945
HP:0002357HP:0002357Dysphasia0HIRA CL E G H7290567ORPHA14764916600237
HP:0002357HP:0002357Dysphasia0JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0002357HP:0002357Dysphasia0KRAS CL E G H38452396ORPHA14806407190070
HP:0002357HP:0002357Dysphasia0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002357HP:0002357Dysphasia0MAPT CL E G H4137100070ORPHA15816893157140
HP:0002357HP:0002357Dysphasia0MAPT CL E G H4137275864ORPHA15816893157140
HP:0002357HP:0002357Dysphasia0MECP2 CL E G H4204778ORPHA119256990300005
HP:0002357HP:0002357Dysphasia0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA16438108300535
HP:0002357HP:0002357Dysphasia0PLEC CL E G H5339257ORPHA150689069601282
HP:0002357HP:0002357Dysphasia0PSEN1 CL E G H5663100070ORPHA15019508104311
HP:0002357HP:0002357Dysphasia0PSEN1 CL E G H5663275864ORPHA15019508104311
HP:0002357HP:0002357Dysphasia0RAI1 CL E G H107431713ORPHA116089834607642
HP:0002357HP:0002357Dysphasia0RREB1 CL E G H6239567ORPHA129710449602209
HP:0002357HP:0002357Dysphasia0SEC24C CL E G H9632567ORPHA15810705607185
HP:0002357HP:0002357Dysphasia0SMARCA2 CL E G H65953051ORPHA1113011098600014
HP:0002357HP:0002357Dysphasia0SQSTM1 CL E G H8878275864ORPHA167711280601530
HP:0002357HP:0002357Dysphasia0STS CL E G H412281090ORPHA147511425300747
HP:0002357HP:0002357Dysphasia0TBX1 CL E G H6899567ORPHA1116911592602054
HP:0002357HP:0002357Dysphasia0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0002357HP:0002357Dysphasia0TMEM106B CL E G H54664275864ORPHA112822407613413
HP:0002357HP:0002357Dysphasia0TMEM106B CL E G H54664100070ORPHA112822407613413
HP:0002357HP:0002357Dysphasia0TREM2 CL E G H54209275864ORPHA115417761605086
HP:0002357HP:0002357Dysphasia0TREM2 CL E G H54209100070ORPHA115417761605086
HP:0002357HP:0002357Dysphasia0UFD1 CL E G H7353567ORPHA141512520601754
HP:0002357HP:0002357Dysphasia0VCP CL E G H7415100070ORPHA160712666601023
HP:0002357HP:0002357Dysphasia0VCP CL E G H7415275864ORPHA160712666601023
HP:0002357HP:0002357Dysphasia0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002357HP:0002357Dysphasia0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA045026837300647
HP:0002357HP:0002357Dysphasia0ATP1A2 CL E G H477569ORPHA01117800182340
HP:0002357HP:0002357Dysphasia0CACNA1A CL E G H773569ORPHA032481388601011
HP:0002357HP:0002357Dysphasia0COX7B CL E G H13492556ORPHA01812291300885
HP:0002357HP:0002357Dysphasia0HCCS CL E G H30522556ORPHA02344837300056
HP:0002357HP:0002357Dysphasia0KCNQ2 CL E G H3785306ORPHA019626296602235
HP:0002357HP:0002357Dysphasia0KCNQ3 CL E G H3786306ORPHA012276297602232
HP:0002357HP:0002357Dysphasia0L2HGDH CL E G H7994479314ORPHA025320499609584
HP:0002357HP:0002357Dysphasia0NDUFB11 CL E G H545392556ORPHA020920372300403
HP:0002357HP:0002357Dysphasia0POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002357HP:0002357Dysphasia0POLR1D CL E G H51082861ORPHA011120422613715
HP:0002357HP:0002357Dysphasia0PRRT2 CL E G H112476306ORPHA079930500614386
HP:0002357HP:0002357Dysphasia0PRRT2 CL E G H112476569ORPHA079930500614386
HP:0002357HP:0002357Dysphasia0SCN1A CL E G H6323569ORPHA0403010585182389
HP:0002357HP:0002357Dysphasia0SCN2A CL E G H6326306ORPHA0228010588182390
HP:0002357HP:0002357Dysphasia0SCN8A CL E G H6334306ORPHA0179910596600702
HP:0002357HP:0002357Dysphasia0TCOF1 CL E G H6949861ORPHA069511654606847


Genes (54) :ACTB ACTG1 ADAMTS2 AMER1 ARVCF ATP1A2 ATRX C9ORF72 C9orf72 CACNA1A CHMP2B CKAP2L COL1A1 COL1A2 COMT COX7B EHMT1 FGFR1 FLCN GP1BB GRIN2A GRN HCCS HIRA JMJD1C KCNQ2 KCNQ3 KRAS L2HGDH MAPT MECP2 NDUFB11 OCRL PLEC POLR1C POLR1D PRRT2 PSEN1 RAI1 RREB1 SCN1A SCN2A SCN8A SEC24C SMARCA2 SQSTM1 STS TBX1 TCF4 TCOF1 TMEM106B TREM2 UFD1 VCP

Diseases (30) :2995 1901 2780 567 569 602481 847 100070 275864 141500 3255 1899 2556 96147 2396 610883 245570 607485 306 79314 236792 778 534 257 861 1713 3051 281090 2896 167320
 

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