Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nervous system (HP:0000707)help
Parent Node:
expand
Abnormal esophagus physiology (HP:0025270)help
Parent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
..Starting node
..expand
Dysphagia (HP:0002015)help
Term ID: 2015
Name: Dysphagia
Synonym: Deglutition disorder; Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty
Definition: Difficulty in swallowing.
Comments:
Reference: HP:0002015
Genes and Diseases:
 
       Child Nodes:
........expandNeuromuscular dysphagia (HP:0002068) help
........expandPseudobulbar paralysis (HP:0007024) help
........expandImpaired oral bolus formation (HP:0031146) help
........expandImpaired oropharyngeal swallow response (HP:0031162) help
........expandOral-pharyngeal dysphagia (HP:0200136) help

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002015HP:0002015Dysphagia0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58171433ORPHA1392129102610
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58171430ORPHA1392129102610
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0002015HP:0002015Dysphagia0ACTB CL E G H6079107ORPHA1406132102630
HP:0002015HP:0002015Dysphagia0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM175145102545
HP:0002015HP:0002015Dysphagia0ADAR CL E G H103225154ORPHA1818225146920
HP:0002015HP:0002015Dysphagia0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1117245601568
HP:0002015HP:0002015Dysphagia0AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002015HP:0002015Dysphagia0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0002015HP:0002015Dysphagia0AGRN CL E G H37579098914ORPHA11782329103320
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679247604ORPHA1754443606352
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1754443606352
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1754443606352
HP:0002015HP:0002015Dysphagia0APP CL E G H351324708ORPHA1404620104760
HP:0002015HP:0002015Dysphagia0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0002015HP:0002015Dysphagia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0002015HP:0002015Dysphagia0ASPA CL E G H443314911ORPHA1319756608034
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H47871517ORPHA1790801182350
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1790801182350
HP:0002015HP:0002015Dysphagia0ATP7A CL E G H538198ORPHA11283869300011
HP:0002015HP:0002015Dysphagia0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0002015HP:0002015Dysphagia0ATXN1 CL E G H631098755ORPHA18610548601556
HP:0002015HP:0002015Dysphagia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002015HP:0002015Dysphagia0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0002015HP:0002015Dysphagia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002015HP:0002015Dysphagia0ATXN7 CL E G H631494147ORPHA14210560607640
HP:0002015HP:0002015Dysphagia0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM14210560607640
HP:0002015HP:0002015Dysphagia0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002015HP:0002015Dysphagia0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0002015HP:0002015Dysphagia0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM19481097164757
HP:0002015HP:0002015Dysphagia0C19orf12 CL E G H83636289560ORPHA127625443614297
HP:0002015HP:0002015Dysphagia0C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002015HP:0002015Dysphagia0CACNA1A CL E G H77398758ORPHA126891388601011
HP:0002015HP:0002015Dysphagia0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0002015HP:0002015Dysphagia0CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0002015HP:0002015Dysphagia0CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM149427089610859
HP:0002015HP:0002015Dysphagia0CAV1 CL E G H857220393ORPHA11151527601047
HP:0002015HP:0002015Dysphagia0CAV1 CL E G H857220402ORPHA11151527601047
HP:0002015HP:0002015Dysphagia0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0002015HP:0002015Dysphagia0CCN2 CL E G H1490220402ORPHA1262500121009
HP:0002015HP:0002015Dysphagia0CCN2 CL E G H1490220393ORPHA1262500121009
HP:0002015HP:0002015Dysphagia0CCR6 CL E G H1235220393ORPHA1531607601835
HP:0002015HP:0002015Dysphagia0CCR6 CL E G H1235220402ORPHA1531607601835
HP:0002015HP:0002015Dysphagia0CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0002015HP:0002015Dysphagia0CDC73 CL E G H79577143ORPHA1114816783607393
HP:0002015HP:0002015Dysphagia0CHAT CL E G H110398914ORPHA17711912118490
HP:0002015HP:0002015Dysphagia0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0002015HP:0002015Dysphagia0CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002015HP:0002015Dysphagia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0002015HP:0002015Dysphagia0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1231820626608892
HP:0002015HP:0002015Dysphagia0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0002015HP:0002015Dysphagia0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0002015HP:0002015Dysphagia0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0002015HP:0002015Dysphagia0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002015HP:0002015Dysphagia0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002015HP:0002015Dysphagia0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0002015HP:0002015Dysphagia0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0002015HP:0002015Dysphagia0CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM18702019118425
HP:0002015HP:0002015Dysphagia0COL13A1 CL E G H130598914ORPHA13972190120350
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H129489842ORPHA126162214120120
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H129479409ORPHA126162214120120
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H129479408ORPHA126162214120120
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM126162214120120
HP:0002015HP:0002015Dysphagia0COLQ CL E G H829298915ORPHA14652226603033
HP:0002015HP:0002015Dysphagia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002015HP:0002015Dysphagia0COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002015HP:0002015Dysphagia0CRYAB CL E G H1410399058ORPHA12302389123590
HP:0002015HP:0002015Dysphagia0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM16512518606272
HP:0002015HP:0002015Dysphagia0DDHD2 CL E G H23259320380ORPHA124929106615003
HP:0002015HP:0002015Dysphagia0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM124929106615003
HP:0002015HP:0002015Dysphagia0DGUOK CL E G H1716329314ORPHA11672858601465
HP:0002015HP:0002015Dysphagia0DKK1 CL E G H22943268882ORPHA1242891605189
HP:0002015HP:0002015Dysphagia0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002015HP:0002015Dysphagia0DNAJB6 CL E G H1004934516ORPHA141114888611332
HP:0002015HP:0002015Dysphagia0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0002015HP:0002015Dysphagia0DNAJC13 CL E G H23317411602ORPHA116530343614334
HP:0002015HP:0002015Dysphagia0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002015HP:0002015Dysphagia0ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA1813153602201
HP:0002015HP:0002015Dysphagia0EIF4G1 CL E G H1981411602ORPHA1943296600495
HP:0002015HP:0002015Dysphagia0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002015HP:0002015Dysphagia0ERLIN2 CL E G H11160247604ORPHA11591356611605
HP:0002015HP:0002015Dysphagia0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM149013601605654
HP:0002015HP:0002015Dysphagia0FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0002015HP:0002015Dysphagia0FERMT1 CL E G H556122908ORPHA142115889607900
HP:0002015HP:0002015Dysphagia0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM112124671610595
HP:0002015HP:0002015Dysphagia0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11513999134790
HP:0002015HP:0002015Dysphagia0FUS CL E G H2521275872ORPHA14094010137070
HP:0002015HP:0002015Dysphagia0GABRD CL E G H25631606ORPHA13974084137163
HP:0002015HP:0002015Dysphagia0GBA CL E G H262977260ORPHA14177606463
HP:0002015HP:0002015Dysphagia0GBA CL E G H2629411602ORPHA14177606463
HP:0002015HP:0002015Dysphagia0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0002015HP:0002015Dysphagia0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0002015HP:0002015Dysphagia0GBA2 CL E G H57704352641ORPHA127718986609471
HP:0002015HP:0002015Dysphagia0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13644193600225
HP:0002015HP:0002015Dysphagia0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM115215717606969
HP:0002015HP:0002015Dysphagia0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0002015HP:0002015Dysphagia0GIGYF2 CL E G H26058411602ORPHA125511960612003
HP:0002015HP:0002015Dysphagia0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0002015HP:0002015Dysphagia0GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM111822923615495
HP:0002015HP:0002015Dysphagia0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0002015HP:0002015Dysphagia0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM15194588602717
HP:0002015HP:0002015Dysphagia0GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM1794685139396
HP:0002015HP:0002015Dysphagia0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0002015HP:0002015Dysphagia0HLA-B CL E G H310636426ORPHA1184932142830
HP:0002015HP:0002015Dysphagia0HLA-DRB1 CL E G H3123220402ORPHA1244948142857
HP:0002015HP:0002015Dysphagia0HLA-DRB1 CL E G H3123220393ORPHA1244948142857
HP:0002015HP:0002015Dysphagia0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1325111142968
HP:0002015HP:0002015Dysphagia0HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1315144142622
HP:0002015HP:0002015Dysphagia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13275157308000
HP:0002015HP:0002015Dysphagia0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0002015HP:0002015Dysphagia0IKZF1 CL E G H1032036426ORPHA19713176603023
HP:0002015HP:0002015Dysphagia0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM116714282611720
HP:0002015HP:0002015Dysphagia0IRF5 CL E G H3663220393ORPHA1426120607218
HP:0002015HP:0002015Dysphagia0IRF5 CL E G H3663220402ORPHA1426120607218
HP:0002015HP:0002015Dysphagia0ITGB4 CL E G H3691158684ORPHA14396158147557
HP:0002015HP:0002015Dysphagia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM160517582605880
HP:0002015HP:0002015Dysphagia0KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002015HP:0002015Dysphagia0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM13996239605411
HP:0002015HP:0002015Dysphagia0KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM1906283605874
HP:0002015HP:0002015Dysphagia0KIAA0319L CL E G H79932220402ORPHA13130071613535
HP:0002015HP:0002015Dysphagia0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM17446323602821
HP:0002015HP:0002015Dysphagia0KIT CL E G H381544890ORPHA121376342164920
HP:0002015HP:0002015Dysphagia0KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM121376342164920
HP:0002015HP:0002015Dysphagia0KLHL40 CL E G H131377171430ORPHA137830372615340
HP:0002015HP:0002015Dysphagia0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM137830372615340
HP:0002015HP:0002015Dysphagia0KLHL41 CL E G H10324171433ORPHA122016905607701
HP:0002015HP:0002015Dysphagia0KLHL41 CL E G H10324171430ORPHA122016905607701
HP:0002015HP:0002015Dysphagia0KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM125815646611119
HP:0002015HP:0002015Dysphagia0KMT2A CL E G H4297319182ORPHA113177132159555
HP:0002015HP:0002015Dysphagia0LAMB2 CL E G H391398915ORPHA16776487150325
HP:0002015HP:0002015Dysphagia0LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA12856518600024
HP:0002015HP:0002015Dysphagia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0002015HP:0002015Dysphagia0LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM14121205609791
HP:0002015HP:0002015Dysphagia0LMOD3 CL E G H56203171430ORPHA13266649616112
HP:0002015HP:0002015Dysphagia0LRRK2 CL E G H120892411602ORPHA1222618618609007
HP:0002015HP:0002015Dysphagia0MAP2K2 CL E G H5605638ORPHA15996842601263
HP:0002015HP:0002015Dysphagia0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0002015HP:0002015Dysphagia0MATR3 CL E G H9782600ORPHA13336912164015
HP:0002015HP:0002015Dysphagia0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM13336912164015
HP:0002015HP:0002015Dysphagia0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM117786990300005
HP:0002015HP:0002015Dysphagia0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM18519691608205
HP:0002015HP:0002015Dysphagia0MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM13572375603810
HP:0002015HP:0002015Dysphagia0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0002015HP:0002015Dysphagia0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111724858614785
HP:0002015HP:0002015Dysphagia0MGME1 CL E G H92667352447ORPHA17816205615076
HP:0002015HP:0002015Dysphagia0MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM13557095300552
HP:0002015HP:0002015Dysphagia0MMP1 CL E G H431279408ORPHA1727155120353
HP:0002015HP:0002015Dysphagia0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0002015HP:0002015Dysphagia0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002015HP:0002015Dysphagia0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0002015HP:0002015Dysphagia0MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM12897578160741
HP:0002015HP:0002015Dysphagia0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0002015HP:0002015Dysphagia0MYO9A CL E G H464998914ORPHA11727608604875
HP:0002015HP:0002015Dysphagia0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM11727608604875
HP:0002015HP:0002015Dysphagia0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM129512399604103
HP:0002015HP:0002015Dysphagia0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1567690602138
HP:0002015HP:0002015Dysphagia0NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002015HP:0002015Dysphagia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002015HP:0002015Dysphagia0NEB CL E G H4703171433ORPHA164447720161650
HP:0002015HP:0002015Dysphagia0NEB CL E G H4703171430ORPHA164447720161650
HP:0002015HP:0002015Dysphagia0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0002015HP:0002015Dysphagia0NF1 CL E G H4763638ORPHA1109177765613113
HP:0002015HP:0002015Dysphagia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM116937897607623
HP:0002015HP:0002015Dysphagia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM118314537601015
HP:0002015HP:0002015Dysphagia0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11127981601828
HP:0002015HP:0002015Dysphagia0NUP62 CL E G H23636225154ORPHA1978066605815
HP:0002015HP:0002015Dysphagia0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM1978066605815
HP:0002015HP:0002015Dysphagia0OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM132817142602432
HP:0002015HP:0002015Dysphagia0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025216866ORPHA137115894606157
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM137115894606157
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM137115894606157
HP:0002015HP:0002015Dysphagia0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1418729176740
HP:0002015HP:0002015Dysphagia0PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA11798794603390
HP:0002015HP:0002015Dysphagia0PDGFRA CL E G H515644890ORPHA124248803173490
HP:0002015HP:0002015Dysphagia0PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM124248803173490
HP:0002015HP:0002015Dysphagia0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11289279605993
HP:0002015HP:0002015Dysphagia0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM13468857603360
HP:0002015HP:0002015Dysphagia0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1878881176610
HP:0002015HP:0002015Dysphagia0PLA2G6 CL E G H8398199351ORPHA15989039603604
HP:0002015HP:0002015Dysphagia0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15989039603604
HP:0002015HP:0002015Dysphagia0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13389043603873
HP:0002015HP:0002015Dysphagia0PLEC CL E G H5339158684ORPHA141529069601282
HP:0002015HP:0002015Dysphagia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13919086300401
HP:0002015HP:0002015Dysphagia0PLXND1 CL E G H23129570ORPHA11189107604282
HP:0002015HP:0002015Dysphagia0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM14269153609023
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428254886ORPHA119179179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA119179179174763
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H11128447896ORPHA178530074614258
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM178530074614258
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM178530074614258
HP:0002015HP:0002015Dysphagia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM136830348614366
HP:0002015HP:0002015Dysphagia0PRDM16 CL E G H639761606ORPHA1108114000605557
HP:0002015HP:0002015Dysphagia0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12909402176980
HP:0002015HP:0002015Dysphagia0PRKRA CL E G H8575210571ORPHA11639438603424
HP:0002015HP:0002015Dysphagia0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11639438603424
HP:0002015HP:0002015Dysphagia0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0002015HP:0002015Dysphagia0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13609462311850
HP:0002015HP:0002015Dysphagia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM15989498176801
HP:0002015HP:0002015Dysphagia0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0002015HP:0002015Dysphagia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12149689612719
HP:0002015HP:0002015Dysphagia0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0002015HP:0002015Dysphagia0QDPR CL E G H5860226ORPHA12599752612676
HP:0002015HP:0002015Dysphagia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM12599752612676
HP:0002015HP:0002015Dysphagia0RERE CL E G H4731606ORPHA13439965605226
HP:0002015HP:0002015Dysphagia0REV3L CL E G H5980570ORPHA11339968602776
HP:0002015HP:0002015Dysphagia0RHBDF2 CL E G H796512198ORPHA117620788614404
HP:0002015HP:0002015Dysphagia0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118713429300379
HP:0002015HP:0002015Dysphagia0RNASEH1 CL E G H246243329336ORPHA110418466604123
HP:0002015HP:0002015Dysphagia0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM110418466604123
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H50484329336ORPHA129317296604712
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002015HP:0002015Dysphagia0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0002015HP:0002015Dysphagia0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14221665602257
HP:0002015HP:0002015Dysphagia0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM1109610590182391
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H6329684ORPHA1139110591603967
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H632999734ORPHA1139110591603967
HP:0002015HP:0002015Dysphagia0SDHA CL E G H638944890ORPHA1218610680600857
HP:0002015HP:0002015Dysphagia0SDHB CL E G H639097286ORPHA1109910681185470
HP:0002015HP:0002015Dysphagia0SDHB CL E G H639044890ORPHA1109910681185470
HP:0002015HP:0002015Dysphagia0SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM1109910681185470
HP:0002015HP:0002015Dysphagia0SDHC CL E G H639144890ORPHA170210682602413
HP:0002015HP:0002015Dysphagia0SDHC CL E G H639197286ORPHA170210682602413
HP:0002015HP:0002015Dysphagia0SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM170210682602413
HP:0002015HP:0002015Dysphagia0SDHD CL E G H639297286ORPHA160710683602690
HP:0002015HP:0002015Dysphagia0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0002015HP:0002015Dysphagia0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM145110727608166
HP:0002015HP:0002015Dysphagia0SERPING1 CL E G H710100050ORPHA13761228606860
HP:0002015HP:0002015Dysphagia0SIK1 CL E G H1500941935ORPHA177911142605705
HP:0002015HP:0002015Dysphagia0SKI CL E G H64971606ORPHA191010896164780
HP:0002015HP:0002015Dysphagia0SLC18A3 CL E G H657298914ORPHA121510936600336
HP:0002015HP:0002015Dysphagia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM148216266606152
HP:0002015HP:0002015Dysphagia0SLC25A1 CL E G H657698914ORPHA150510979190315
HP:0002015HP:0002015Dysphagia0SLC25A22 CL E G H797511935ORPHA147819954609302
HP:0002015HP:0002015Dysphagia0SLC52A2 CL E G H7958197229ORPHA145830224607882
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H11327897229ORPHA139916187613350
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM139916187613350
HP:0002015HP:0002015Dysphagia0SLC5A7 CL E G H6048298914ORPHA137514025608761
HP:0002015HP:0002015Dysphagia0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0002015HP:0002015Dysphagia0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM116811056601019
HP:0002015HP:0002015Dysphagia0SLC9A6 CL E G H1047985278ORPHA153611079300231
HP:0002015HP:0002015Dysphagia0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM153611079300231
HP:0002015HP:0002015Dysphagia0SMC1A CL E G H8243319182ORPHA179811111300040
HP:0002015HP:0002015Dysphagia0SNAP25 CL E G H661698914ORPHA119111132600322
HP:0002015HP:0002015Dysphagia0SNCA CL E G H6622411602ORPHA117711138163890
HP:0002015HP:0002015Dysphagia0SNCA CL E G H6622171695ORPHA117711138163890
HP:0002015HP:0002015Dysphagia0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0002015HP:0002015Dysphagia0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM111811139603779
HP:0002015HP:0002015Dysphagia0SPART CL E G H23111101000ORPHA127418514607111
HP:0002015HP:0002015Dysphagia0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM123029022614140
HP:0002015HP:0002015Dysphagia0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1216511226610844
HP:0002015HP:0002015Dysphagia0SPG21 CL E G H51324101001ORPHA114520373608181
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H668735689ORPHA177811237602783
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM177811237602783
HP:0002015HP:0002015Dysphagia0SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002015HP:0002015Dysphagia0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM154211280601530
HP:0002015HP:0002015Dysphagia0SYT14 CL E G H255928284271ORPHA19223143610949
HP:0002015HP:0002015Dysphagia0SYT2 CL E G H12783398914ORPHA116011510600104
HP:0002015HP:0002015Dysphagia0TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002015HP:0002015Dysphagia0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM125911571605078
HP:0002015HP:0002015Dysphagia0TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002015HP:0002015Dysphagia0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM129411584604834
HP:0002015HP:0002015Dysphagia0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002015HP:0002015Dysphagia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM121711817300356
HP:0002015HP:0002015Dysphagia0TK2 CL E G H7084254886ORPHA135611831188250
HP:0002015HP:0002015Dysphagia0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM135611831188250
HP:0002015HP:0002015Dysphagia0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H7170171433ORPHA130012012191030
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM130012012191030
HP:0002015HP:0002015Dysphagia0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM111424284614139
HP:0002015HP:0002015Dysphagia0TTBK2 CL E G H14605798767ORPHA123419141611695
HP:0002015HP:0002015Dysphagia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM121920774602662
HP:0002015HP:0002015Dysphagia0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM13081160606075
HP:0002015HP:0002015Dysphagia0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002015HP:0002015Dysphagia0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0002015HP:0002015Dysphagia0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM15512511600673
HP:0002015HP:0002015Dysphagia0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM122025507604632
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H684398914ORPHA111812642185880
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H6843251282ORPHA111812642185880
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM111812642185880
HP:0002015HP:0002015Dysphagia0VCP CL E G H7415275872ORPHA147312666601023
HP:0002015HP:0002015Dysphagia0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM117351908605978
HP:0002015HP:0002015Dysphagia0VPS35 CL E G H55737411602ORPHA118413487601501
HP:0002015HP:0002015Dysphagia0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1126812762606201
HP:0002015HP:0002015Dysphagia0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM115624249610957
HP:0002015HP:0002068Neuromuscular dysphagia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0002015HP:0031146Impaired oral bolus formation1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0002015HP:0007024Pseudobulbar paralysis1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTA1 CL E G H58171430ORPHA1392129102610
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTA1 CL E G H58171433ORPHA1392129102610
HP:0002015HP:0002068Neuromuscular dysphagia1ACTA1 CL E G H58171430ORPHA1392129102610
HP:0002015HP:0031146Impaired oral bolus formation1ACTA1 CL E G H58171433ORPHA1392129102610
HP:0002015HP:0007024Pseudobulbar paralysis1ACTA1 CL E G H58171433ORPHA1392129102610
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTA1 CL E G H58171430ORPHA1392129102610
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTA1 CL E G H58171433ORPHA1392129102610
HP:0002015HP:0031146Impaired oral bolus formation1ACTA1 CL E G H58171430ORPHA1392129102610
HP:0002015HP:0007024Pseudobulbar paralysis1ACTA1 CL E G H58171430ORPHA1392129102610
HP:0002015HP:0002068Neuromuscular dysphagia1ACTA1 CL E G H58171433ORPHA1392129102610
HP:0002015HP:0007024Pseudobulbar paralysis1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002015HP:0031146Impaired oral bolus formation1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002015HP:0002068Neuromuscular dysphagia1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002015HP:0002068Neuromuscular dysphagia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0002015HP:0007024Pseudobulbar paralysis1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0002015HP:0031146Impaired oral bolus formation1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0002015HP:0031146Impaired oral bolus formation1ACTB CL E G H6079107ORPHA1406132102630
HP:0002015HP:0007024Pseudobulbar paralysis1ACTB CL E G H6079107ORPHA1406132102630
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTB CL E G H6079107ORPHA1406132102630
HP:0002015HP:0002068Neuromuscular dysphagia1ACTB CL E G H6079107ORPHA1406132102630
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTB CL E G H6079107ORPHA1406132102630
HP:0002015HP:0031146Impaired oral bolus formation1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM175145102545
HP:0002015HP:0007024Pseudobulbar paralysis1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM175145102545
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM175145102545
HP:0002015HP:0002068Neuromuscular dysphagia1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM175145102545
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM175145102545
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ADAR CL E G H103225154ORPHA1818225146920
HP:0002015HP:0002068Neuromuscular dysphagia1ADAR CL E G H103225154ORPHA1818225146920
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ADAR CL E G H103225154ORPHA1818225146920
HP:0002015HP:0031146Impaired oral bolus formation1ADAR CL E G H103225154ORPHA1818225146920
HP:0002015HP:0007024Pseudobulbar paralysis1ADAR CL E G H103225154ORPHA1818225146920
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1117245601568
HP:0002015HP:0002068Neuromuscular dysphagia1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1117245601568
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1117245601568
HP:0002015HP:0031146Impaired oral bolus formation1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1117245601568
HP:0002015HP:0007024Pseudobulbar paralysis1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1117245601568
HP:0002015HP:0200136Oral-pharyngeal dysphagia1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002015HP:0002068Neuromuscular dysphagia1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002015HP:0031162Impaired oropharyngeal swallow response1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002015HP:0031146Impaired oral bolus formation1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002015HP:0007024Pseudobulbar paralysis1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002015HP:0031162Impaired oropharyngeal swallow response1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0002015HP:0031146Impaired oral bolus formation1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0002015HP:0007024Pseudobulbar paralysis1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0002015HP:0200136Oral-pharyngeal dysphagia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0002015HP:0002068Neuromuscular dysphagia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0002015HP:0200136Oral-pharyngeal dysphagia1AGRN CL E G H37579098914ORPHA11782329103320
HP:0002015HP:0002068Neuromuscular dysphagia1AGRN CL E G H37579098914ORPHA11782329103320
HP:0002015HP:0031162Impaired oropharyngeal swallow response1AGRN CL E G H37579098914ORPHA11782329103320
HP:0002015HP:0031146Impaired oral bolus formation1AGRN CL E G H37579098914ORPHA11782329103320
HP:0002015HP:0007024Pseudobulbar paralysis1AGRN CL E G H37579098914ORPHA11782329103320
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ALS2 CL E G H57679247604ORPHA1754443606352
HP:0002015HP:0031146Impaired oral bolus formation1ALS2 CL E G H57679247604ORPHA1754443606352
HP:0002015HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679247604ORPHA1754443606352
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ALS2 CL E G H57679247604ORPHA1754443606352
HP:0002015HP:0002068Neuromuscular dysphagia1ALS2 CL E G H57679247604ORPHA1754443606352
HP:0002015HP:0031146Impaired oral bolus formation1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0002015HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0002015HP:0002068Neuromuscular dysphagia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1754443606352
HP:0002015HP:0031146Impaired oral bolus formation1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1754443606352
HP:0002015HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1754443606352
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1754443606352
HP:0002015HP:0002068Neuromuscular dysphagia1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1754443606352
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1754443606352
HP:0002015HP:0031146Impaired oral bolus formation1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1754443606352
HP:0002015HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1754443606352
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1754443606352
HP:0002015HP:0002068Neuromuscular dysphagia1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1754443606352
HP:0002015HP:0031162Impaired oropharyngeal swallow response1APP CL E G H351324708ORPHA1404620104760
HP:0002015HP:0031146Impaired oral bolus formation1APP CL E G H351324708ORPHA1404620104760
HP:0002015HP:0007024Pseudobulbar paralysis1APP CL E G H351324708ORPHA1404620104760
HP:0002015HP:0200136Oral-pharyngeal dysphagia1APP CL E G H351324708ORPHA1404620104760
HP:0002015HP:0002068Neuromuscular dysphagia1APP CL E G H351324708ORPHA1404620104760
HP:0002015HP:0002068Neuromuscular dysphagia1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0002015HP:0031162Impaired oropharyngeal swallow response1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0002015HP:0031146Impaired oral bolus formation1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0002015HP:0007024Pseudobulbar paralysis1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0002015HP:0200136Oral-pharyngeal dysphagia1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0002015HP:0002068Neuromuscular dysphagia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0002015HP:0007024Pseudobulbar paralysis1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0002015HP:0031146Impaired oral bolus formation1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ASPA CL E G H443314911ORPHA1319756608034
HP:0002015HP:0031146Impaired oral bolus formation1ASPA CL E G H443314911ORPHA1319756608034
HP:0002015HP:0007024Pseudobulbar paralysis1ASPA CL E G H443314911ORPHA1319756608034
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ASPA CL E G H443314911ORPHA1319756608034
HP:0002015HP:0002068Neuromuscular dysphagia1ASPA CL E G H443314911ORPHA1319756608034
HP:0002015HP:0031146Impaired oral bolus formation1ATP1A3 CL E G H47871517ORPHA1790801182350
HP:0002015HP:0007024Pseudobulbar paralysis1ATP1A3 CL E G H47871517ORPHA1790801182350
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP1A3 CL E G H47871517ORPHA1790801182350
HP:0002015HP:0002068Neuromuscular dysphagia1ATP1A3 CL E G H47871517ORPHA1790801182350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATP1A3 CL E G H47871517ORPHA1790801182350
HP:0002015HP:0031146Impaired oral bolus formation1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1790801182350
HP:0002015HP:0007024Pseudobulbar paralysis1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1790801182350
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1790801182350
HP:0002015HP:0002068Neuromuscular dysphagia1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1790801182350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1790801182350
HP:0002015HP:0002068Neuromuscular dysphagia1ATP7A CL E G H538198ORPHA11283869300011
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATP7A CL E G H538198ORPHA11283869300011
HP:0002015HP:0031146Impaired oral bolus formation1ATP7A CL E G H538198ORPHA11283869300011
HP:0002015HP:0007024Pseudobulbar paralysis1ATP7A CL E G H538198ORPHA11283869300011
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP7A CL E G H538198ORPHA11283869300011
HP:0002015HP:0002068Neuromuscular dysphagia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0002015HP:0031146Impaired oral bolus formation1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0002015HP:0007024Pseudobulbar paralysis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0002015HP:0031146Impaired oral bolus formation1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002015HP:0031146Impaired oral bolus formation1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0002015HP:0031146Impaired oral bolus formation1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002015HP:0031146Impaired oral bolus formation1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002015HP:0031146Impaired oral bolus formation1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0002015HP:0031146Impaired oral bolus formation1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM14210560607640
HP:0002015HP:0031146Impaired oral bolus formation1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM14210560607640
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM14210560607640
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM14210560607640
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM14210560607640
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002015HP:0031146Impaired oral bolus formation1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0002015HP:0031146Impaired oral bolus formation1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0002015HP:0200136Oral-pharyngeal dysphagia1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM19481097164757
HP:0002015HP:0002068Neuromuscular dysphagia1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM19481097164757
HP:0002015HP:0031162Impaired oropharyngeal swallow response1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM19481097164757
HP:0002015HP:0031146Impaired oral bolus formation1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM19481097164757
HP:0002015HP:0007024Pseudobulbar paralysis1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM19481097164757
HP:0002015HP:0200136Oral-pharyngeal dysphagia1C19orf12 CL E G H83636289560ORPHA127625443614297
HP:0002015HP:0002068Neuromuscular dysphagia1C19orf12 CL E G H83636289560ORPHA127625443614297
HP:0002015HP:0031162Impaired oropharyngeal swallow response1C19orf12 CL E G H83636289560ORPHA127625443614297
HP:0002015HP:0007024Pseudobulbar paralysis1C19orf12 CL E G H83636289560ORPHA127625443614297
HP:0002015HP:0031146Impaired oral bolus formation1C19orf12 CL E G H83636289560ORPHA127625443614297
HP:0002015HP:0031162Impaired oropharyngeal swallow response1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002015HP:0031146Impaired oral bolus formation1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002015HP:0007024Pseudobulbar paralysis1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002015HP:0200136Oral-pharyngeal dysphagia1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002015HP:0002068Neuromuscular dysphagia1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CACNA1A CL E G H77398758ORPHA126891388601011
HP:0002015HP:0002068Neuromuscular dysphagia1CACNA1A CL E G H77398758ORPHA126891388601011
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CACNA1A CL E G H77398758ORPHA126891388601011
HP:0002015HP:0031146Impaired oral bolus formation1CACNA1A CL E G H77398758ORPHA126891388601011
HP:0002015HP:0007024Pseudobulbar paralysis1CACNA1A CL E G H77398758ORPHA126891388601011
HP:0002015HP:0002068Neuromuscular dysphagia1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0002015HP:0031146Impaired oral bolus formation1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0002015HP:0007024Pseudobulbar paralysis1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0002015HP:0031146Impaired oral bolus formation1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0002015HP:0007024Pseudobulbar paralysis1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0002015HP:0002068Neuromuscular dysphagia1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0002015HP:0031146Impaired oral bolus formation1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM149427089610859
HP:0002015HP:0007024Pseudobulbar paralysis1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM149427089610859
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM149427089610859
HP:0002015HP:0002068Neuromuscular dysphagia1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM149427089610859
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM149427089610859
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CAV1 CL E G H857220402ORPHA11151527601047
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CAV1 CL E G H857220393ORPHA11151527601047
HP:0002015HP:0007024Pseudobulbar paralysis1CAV1 CL E G H857220393ORPHA11151527601047
HP:0002015HP:0002068Neuromuscular dysphagia1CAV1 CL E G H857220402ORPHA11151527601047
HP:0002015HP:0031146Impaired oral bolus formation1CAV1 CL E G H857220393ORPHA11151527601047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CAV1 CL E G H857220393ORPHA11151527601047
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CAV1 CL E G H857220402ORPHA11151527601047
HP:0002015HP:0002068Neuromuscular dysphagia1CAV1 CL E G H857220393ORPHA11151527601047
HP:0002015HP:0031146Impaired oral bolus formation1CAV1 CL E G H857220402ORPHA11151527601047
HP:0002015HP:0007024Pseudobulbar paralysis1CAV1 CL E G H857220402ORPHA11151527601047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0002015HP:0002068Neuromuscular dysphagia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0002015HP:0031146Impaired oral bolus formation1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0002015HP:0007024Pseudobulbar paralysis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CCN2 CL E G H1490220393ORPHA1262500121009
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CCN2 CL E G H1490220402ORPHA1262500121009
HP:0002015HP:0007024Pseudobulbar paralysis1CCN2 CL E G H1490220402ORPHA1262500121009
HP:0002015HP:0002068Neuromuscular dysphagia1CCN2 CL E G H1490220393ORPHA1262500121009
HP:0002015HP:0031146Impaired oral bolus formation1CCN2 CL E G H1490220402ORPHA1262500121009
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CCN2 CL E G H1490220402ORPHA1262500121009
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CCN2 CL E G H1490220393ORPHA1262500121009
HP:0002015HP:0031146Impaired oral bolus formation1CCN2 CL E G H1490220393ORPHA1262500121009
HP:0002015HP:0007024Pseudobulbar paralysis1CCN2 CL E G H1490220393ORPHA1262500121009
HP:0002015HP:0002068Neuromuscular dysphagia1CCN2 CL E G H1490220402ORPHA1262500121009
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CCR6 CL E G H1235220402ORPHA1531607601835
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CCR6 CL E G H1235220393ORPHA1531607601835
HP:0002015HP:0002068Neuromuscular dysphagia1CCR6 CL E G H1235220402ORPHA1531607601835
HP:0002015HP:0031146Impaired oral bolus formation1CCR6 CL E G H1235220393ORPHA1531607601835
HP:0002015HP:0007024Pseudobulbar paralysis1CCR6 CL E G H1235220393ORPHA1531607601835
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CCR6 CL E G H1235220402ORPHA1531607601835
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CCR6 CL E G H1235220393ORPHA1531607601835
HP:0002015HP:0031146Impaired oral bolus formation1CCR6 CL E G H1235220402ORPHA1531607601835
HP:0002015HP:0007024Pseudobulbar paralysis1CCR6 CL E G H1235220402ORPHA1531607601835
HP:0002015HP:0002068Neuromuscular dysphagia1CCR6 CL E G H1235220393ORPHA1531607601835
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0002015HP:0031146Impaired oral bolus formation1CDC73 CL E G H79577143ORPHA1114816783607393
HP:0002015HP:0007024Pseudobulbar paralysis1CDC73 CL E G H79577143ORPHA1114816783607393
HP:0002015HP:0031146Impaired oral bolus formation1CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0002015HP:0007024Pseudobulbar paralysis1CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CDC73 CL E G H79577143ORPHA1114816783607393
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0002015HP:0002068Neuromuscular dysphagia1CDC73 CL E G H79577143ORPHA1114816783607393
HP:0002015HP:0002068Neuromuscular dysphagia1CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CDC73 CL E G H79577143ORPHA1114816783607393
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHAT CL E G H110398914ORPHA17711912118490
HP:0002015HP:0031146Impaired oral bolus formation1CHAT CL E G H110398914ORPHA17711912118490
HP:0002015HP:0007024Pseudobulbar paralysis1CHAT CL E G H110398914ORPHA17711912118490
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHAT CL E G H110398914ORPHA17711912118490
HP:0002015HP:0002068Neuromuscular dysphagia1CHAT CL E G H110398914ORPHA17711912118490
HP:0002015HP:0031146Impaired oral bolus formation1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0002015HP:0007024Pseudobulbar paralysis1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0002015HP:0002068Neuromuscular dysphagia1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002015HP:0002068Neuromuscular dysphagia1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002015HP:0007024Pseudobulbar paralysis1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002015HP:0031146Impaired oral bolus formation1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0002015HP:0007024Pseudobulbar paralysis1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0002015HP:0031146Impaired oral bolus formation1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0002015HP:0002068Neuromuscular dysphagia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0002015HP:0002068Neuromuscular dysphagia1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1231820626608892
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1231820626608892
HP:0002015HP:0031146Impaired oral bolus formation1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1231820626608892
HP:0002015HP:0007024Pseudobulbar paralysis1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1231820626608892
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1231820626608892
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0002015HP:0002068Neuromuscular dysphagia1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0002015HP:0031146Impaired oral bolus formation1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0002015HP:0007024Pseudobulbar paralysis1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0002015HP:0002068Neuromuscular dysphagia1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0002015HP:0031146Impaired oral bolus formation1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0002015HP:0007024Pseudobulbar paralysis1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0002015HP:0031146Impaired oral bolus formation1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0002015HP:0007024Pseudobulbar paralysis1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0002015HP:0002068Neuromuscular dysphagia1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002015HP:0002068Neuromuscular dysphagia1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002015HP:0031146Impaired oral bolus formation1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002015HP:0007024Pseudobulbar paralysis1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002015HP:0007024Pseudobulbar paralysis1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002015HP:0031146Impaired oral bolus formation1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002015HP:0002068Neuromuscular dysphagia1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0002015HP:0002068Neuromuscular dysphagia1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0002015HP:0007024Pseudobulbar paralysis1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0002015HP:0031146Impaired oral bolus formation1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0002015HP:0031146Impaired oral bolus formation1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0002015HP:0007024Pseudobulbar paralysis1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0002015HP:0002068Neuromuscular dysphagia1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0002015HP:0007024Pseudobulbar paralysis1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM18702019118425
HP:0002015HP:0031146Impaired oral bolus formation1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM18702019118425
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM18702019118425
HP:0002015HP:0002068Neuromuscular dysphagia1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM18702019118425
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM18702019118425
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL13A1 CL E G H130598914ORPHA13972190120350
HP:0002015HP:0002068Neuromuscular dysphagia1COL13A1 CL E G H130598914ORPHA13972190120350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL13A1 CL E G H130598914ORPHA13972190120350
HP:0002015HP:0031146Impaired oral bolus formation1COL13A1 CL E G H130598914ORPHA13972190120350
HP:0002015HP:0007024Pseudobulbar paralysis1COL13A1 CL E G H130598914ORPHA13972190120350
HP:0002015HP:0002068Neuromuscular dysphagia1COL7A1 CL E G H129479409ORPHA126162214120120
HP:0002015HP:0002068Neuromuscular dysphagia1COL7A1 CL E G H129479408ORPHA126162214120120
HP:0002015HP:0002068Neuromuscular dysphagia1COL7A1 CL E G H129489842ORPHA126162214120120
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL7A1 CL E G H129479409ORPHA126162214120120
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL7A1 CL E G H129479408ORPHA126162214120120
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL7A1 CL E G H129489842ORPHA126162214120120
HP:0002015HP:0007024Pseudobulbar paralysis1COL7A1 CL E G H129489842ORPHA126162214120120
HP:0002015HP:0031146Impaired oral bolus formation1COL7A1 CL E G H129479409ORPHA126162214120120
HP:0002015HP:0007024Pseudobulbar paralysis1COL7A1 CL E G H129479409ORPHA126162214120120
HP:0002015HP:0031146Impaired oral bolus formation1COL7A1 CL E G H129479408ORPHA126162214120120
HP:0002015HP:0007024Pseudobulbar paralysis1COL7A1 CL E G H129479408ORPHA126162214120120
HP:0002015HP:0031146Impaired oral bolus formation1COL7A1 CL E G H129489842ORPHA126162214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL7A1 CL E G H129489842ORPHA126162214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL7A1 CL E G H129479409ORPHA126162214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL7A1 CL E G H129479408ORPHA126162214120120
HP:0002015HP:0031146Impaired oral bolus formation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM126162214120120
HP:0002015HP:0007024Pseudobulbar paralysis1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM126162214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM126162214120120
HP:0002015HP:0002068Neuromuscular dysphagia1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM126162214120120
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM126162214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COLQ CL E G H829298915ORPHA14652226603033
HP:0002015HP:0002068Neuromuscular dysphagia1COLQ CL E G H829298915ORPHA14652226603033
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COLQ CL E G H829298915ORPHA14652226603033
HP:0002015HP:0031146Impaired oral bolus formation1COLQ CL E G H829298915ORPHA14652226603033
HP:0002015HP:0007024Pseudobulbar paralysis1COLQ CL E G H829298915ORPHA14652226603033
HP:0002015HP:0031146Impaired oral bolus formation1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002015HP:0007024Pseudobulbar paralysis1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002015HP:0002068Neuromuscular dysphagia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002015HP:0031146Impaired oral bolus formation1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002015HP:0007024Pseudobulbar paralysis1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002015HP:0002068Neuromuscular dysphagia1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CRYAB CL E G H1410399058ORPHA12302389123590
HP:0002015HP:0007024Pseudobulbar paralysis1CRYAB CL E G H1410399058ORPHA12302389123590
HP:0002015HP:0031146Impaired oral bolus formation1CRYAB CL E G H1410399058ORPHA12302389123590
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CRYAB CL E G H1410399058ORPHA12302389123590
HP:0002015HP:0002068Neuromuscular dysphagia1CRYAB CL E G H1410399058ORPHA12302389123590
HP:0002015HP:0002068Neuromuscular dysphagia1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM16512518606272
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM16512518606272
HP:0002015HP:0031146Impaired oral bolus formation1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM16512518606272
HP:0002015HP:0007024Pseudobulbar paralysis1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM16512518606272
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM16512518606272
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DDHD2 CL E G H23259320380ORPHA124929106615003
HP:0002015HP:0002068Neuromuscular dysphagia1DDHD2 CL E G H23259320380ORPHA124929106615003
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DDHD2 CL E G H23259320380ORPHA124929106615003
HP:0002015HP:0031146Impaired oral bolus formation1DDHD2 CL E G H23259320380ORPHA124929106615003
HP:0002015HP:0007024Pseudobulbar paralysis1DDHD2 CL E G H23259320380ORPHA124929106615003
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM124929106615003
HP:0002015HP:0002068Neuromuscular dysphagia1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM124929106615003
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM124929106615003
HP:0002015HP:0031146Impaired oral bolus formation1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM124929106615003
HP:0002015HP:0007024Pseudobulbar paralysis1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM124929106615003
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DGUOK CL E G H1716329314ORPHA11672858601465
HP:0002015HP:0002068Neuromuscular dysphagia1DGUOK CL E G H1716329314ORPHA11672858601465
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DGUOK CL E G H1716329314ORPHA11672858601465
HP:0002015HP:0031146Impaired oral bolus formation1DGUOK CL E G H1716329314ORPHA11672858601465
HP:0002015HP:0007024Pseudobulbar paralysis1DGUOK CL E G H1716329314ORPHA11672858601465
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DKK1 CL E G H22943268882ORPHA1242891605189
HP:0002015HP:0002068Neuromuscular dysphagia1DKK1 CL E G H22943268882ORPHA1242891605189
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DKK1 CL E G H22943268882ORPHA1242891605189
HP:0002015HP:0031146Impaired oral bolus formation1DKK1 CL E G H22943268882ORPHA1242891605189
HP:0002015HP:0007024Pseudobulbar paralysis1DKK1 CL E G H22943268882ORPHA1242891605189
HP:0002015HP:0031146Impaired oral bolus formation1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002015HP:0007024Pseudobulbar paralysis1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002015HP:0002068Neuromuscular dysphagia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002015HP:0002068Neuromuscular dysphagia1DNAJB6 CL E G H1004934516ORPHA141114888611332
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DNAJB6 CL E G H1004934516ORPHA141114888611332
HP:0002015HP:0031146Impaired oral bolus formation1DNAJB6 CL E G H1004934516ORPHA141114888611332
HP:0002015HP:0007024Pseudobulbar paralysis1DNAJB6 CL E G H1004934516ORPHA141114888611332
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DNAJB6 CL E G H1004934516ORPHA141114888611332
HP:0002015HP:0002068Neuromuscular dysphagia1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0002015HP:0031146Impaired oral bolus formation1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0002015HP:0007024Pseudobulbar paralysis1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DNAJC13 CL E G H23317411602ORPHA116530343614334
HP:0002015HP:0002068Neuromuscular dysphagia1DNAJC13 CL E G H23317411602ORPHA116530343614334
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DNAJC13 CL E G H23317411602ORPHA116530343614334
HP:0002015HP:0031146Impaired oral bolus formation1DNAJC13 CL E G H23317411602ORPHA116530343614334
HP:0002015HP:0007024Pseudobulbar paralysis1DNAJC13 CL E G H23317411602ORPHA116530343614334
HP:0002015HP:0007024Pseudobulbar paralysis1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002015HP:0031146Impaired oral bolus formation1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002015HP:0200136Oral-pharyngeal dysphagia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002015HP:0002068Neuromuscular dysphagia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002015HP:0031162Impaired oropharyngeal swallow response1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002015HP:0002068Neuromuscular dysphagia1ECM1 CL