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 adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58171430ORPHA1506129102610
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58171433ORPHA1506129102610
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506129102610
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1506129102610
HP:0002015HP:0002015Dysphagia0ACTB CL E G H6079107ORPHA1512132102630
HP:0002015HP:0002015Dysphagia0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM188145102545
HP:0002015HP:0002015Dysphagia0ADAR CL E G H103225154ORPHA11122225146920
HP:0002015HP:0002015Dysphagia0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1179245601568
HP:0002015HP:0002015Dysphagia0AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002015HP:0002015Dysphagia0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0002015HP:0002015Dysphagia0AGRN CL E G H37579098914ORPHA12176329103320
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679247604ORPHA1947443606352
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0002015HP:0002015Dysphagia0APP CL E G H351324708ORPHA1506620104760
HP:0002015HP:0002015Dysphagia0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0002015HP:0002015Dysphagia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002015HP:0002015Dysphagia0ASPA CL E G H443314911ORPHA1388756608034
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0002015HP:0002015Dysphagia0ATP7A CL E G H538198ORPHA11751869300011
HP:0002015HP:0002015Dysphagia0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0002015HP:0002015Dysphagia0ATXN1 CL E G H631098755ORPHA112010548601556
HP:0002015HP:0002015Dysphagia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002015HP:0002015Dysphagia0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002015HP:0002015Dysphagia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1657106607047
HP:0002015HP:0002015Dysphagia0ATXN7 CL E G H631494147ORPHA19810560607640
HP:0002015HP:0002015Dysphagia0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002015HP:0002015Dysphagia0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002015HP:0002015Dysphagia0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002015HP:0002015Dysphagia0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM111821097164757
HP:0002015HP:0002015Dysphagia0C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002015HP:0002015Dysphagia0C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002015HP:0002015Dysphagia0CACNA1A CL E G H77398758ORPHA132481388601011
HP:0002015HP:0002015Dysphagia0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM132481388601011
HP:0002015HP:0002015Dysphagia0CACNA1G CL E G H8913458803ORPHA18221394604065
HP:0002015HP:0002015Dysphagia0CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM177027089610859
HP:0002015HP:0002015Dysphagia0CAV1 CL E G H857220402ORPHA11351527601047
HP:0002015HP:0002015Dysphagia0CAV1 CL E G H857220393ORPHA11351527601047
HP:0002015HP:0002015Dysphagia0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0002015HP:0002015Dysphagia0CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002015HP:0002015Dysphagia0CCN2 CL E G H1490220402ORPHA1322500121009
HP:0002015HP:0002015Dysphagia0CCR6 CL E G H1235220402ORPHA1651607601835
HP:0002015HP:0002015Dysphagia0CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002015HP:0002015Dysphagia0CDC73 CL E G H79577143ORPHA1138416783607393
HP:0002015HP:0002015Dysphagia0CDC73 CL E G H7957799880ORPHA1138416783607393
HP:0002015HP:0002015Dysphagia0CHAT CL E G H110398914ORPHA19841912118490
HP:0002015HP:0002015Dysphagia0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM19841912118490
HP:0002015HP:0002015Dysphagia0CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002015HP:0002015Dysphagia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0002015HP:0002015Dysphagia0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1293020626608892
HP:0002015HP:0002015Dysphagia0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM116024537609512
HP:0002015HP:0002015Dysphagia0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM14681955100690
HP:0002015HP:0002015Dysphagia0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM14681955100690
HP:0002015HP:0002015Dysphagia0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM15051965100720
HP:0002015HP:0002015Dysphagia0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM15051965100720
HP:0002015HP:0002015Dysphagia0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM110111966100725
HP:0002015HP:0002015Dysphagia0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM110111966100725
HP:0002015HP:0002015Dysphagia0CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM110642019118425
HP:0002015HP:0002015Dysphagia0COL13A1 CL E G H130598914ORPHA15592190120350
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H129479408ORPHA137772214120120
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H129489842ORPHA137772214120120
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H129479409ORPHA137772214120120
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM137772214120120
HP:0002015HP:0002015Dysphagia0COLQ CL E G H829298915ORPHA15422226603033
HP:0002015HP:0002015Dysphagia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0002015HP:0002015Dysphagia0COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM129119693612898
HP:0002015HP:0002015Dysphagia0CRYAB CL E G H1410399058ORPHA12732389123590
HP:0002015HP:0002015Dysphagia0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM17782518606272
HP:0002015HP:0002015Dysphagia0DDHD2 CL E G H23259320380ORPHA134129106615003
HP:0002015HP:0002015Dysphagia0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0002015HP:0002015Dysphagia0DGUOK CL E G H1716329314ORPHA12392858601465
HP:0002015HP:0002015Dysphagia0DKK1 CL E G H22943268882ORPHA1342891605189
HP:0002015HP:0002015Dysphagia0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0002015HP:0002015Dysphagia0DNAJB6 CL E G H1004934516ORPHA148714888611332
HP:0002015HP:0002015Dysphagia0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM148714888611332
HP:0002015HP:0002015Dysphagia0DNAJC13 CL E G H23317411602ORPHA123730343614334
HP:0002015HP:0002015Dysphagia0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0002015HP:0002015Dysphagia0ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0002015HP:0002015Dysphagia0EIF4G1 CL E G H1981411602ORPHA11473296600495
HP:0002015HP:0002015Dysphagia0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002015HP:0002015Dysphagia0ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0002015HP:0002015Dysphagia0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0002015HP:0002015Dysphagia0FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0002015HP:0002015Dysphagia0FERMT1 CL E G H556122908ORPHA151915889607900
HP:0002015HP:0002015Dysphagia0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM123524671610595
HP:0002015HP:0002015Dysphagia0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0002015HP:0002015Dysphagia0FUS CL E G H2521275872ORPHA14744010137070
HP:0002015HP:0002015Dysphagia0GABRD CL E G H25631606ORPHA14744084137163
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 H57704352641ORPHA135518986609471
HP:0002015HP:0002015Dysphagia0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0002015HP:0002015Dysphagia0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM124115717606969
HP:0002015HP:0002015Dysphagia0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15244241138292
HP:0002015HP:0002015Dysphagia0GIGYF2 CL E G H26058411602ORPHA133811960612003
HP:0002015HP:0002015Dysphagia0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002015HP:0002015Dysphagia0GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM115022923615495
HP:0002015HP:0002015Dysphagia0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM16164422607664
HP:0002015HP:0002015Dysphagia0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0002015HP:0002015Dysphagia0GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM11024685139396
HP:0002015HP:0002015Dysphagia0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM1104926527610453
HP:0002015HP:0002015Dysphagia0HLA-B CL E G H310636426ORPHA1294932142830
HP:0002015HP:0002015Dysphagia0HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002015HP:0002015Dysphagia0HLA-DRB1 CL E G H3123220402ORPHA1414948142857
HP:0002015HP:0002015Dysphagia0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0002015HP:0002015Dysphagia0HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1505144142622
HP:0002015HP:0002015Dysphagia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002015HP:0002015Dysphagia0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0002015HP:0002015Dysphagia0IKZF1 CL E G H1032036426ORPHA120013176603023
HP:0002015HP:0002015Dysphagia0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0002015HP:0002015Dysphagia0IRF5 CL E G H3663220402ORPHA1656120607218
HP:0002015HP:0002015Dysphagia0IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002015HP:0002015Dysphagia0ITGB4 CL E G H3691158684ORPHA16986158147557
HP:0002015HP:0002015Dysphagia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0002015HP:0002015Dysphagia0KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0002015HP:0002015Dysphagia0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0002015HP:0002015Dysphagia0KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0002015HP:0002015Dysphagia0KIAA0319L CL E G H79932220402ORPHA15730071613535
HP:0002015HP:0002015Dysphagia0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0002015HP:0002015Dysphagia0KIT CL E G H381544890ORPHA124886342164920
HP:0002015HP:0002015Dysphagia0KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM124886342164920
HP:0002015HP:0002015Dysphagia0KLHL40 CL E G H131377171430ORPHA146630372615340
HP:0002015HP:0002015Dysphagia0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM146630372615340
HP:0002015HP:0002015Dysphagia0KLHL41 CL E G H10324171430ORPHA129416905607701
HP:0002015HP:0002015Dysphagia0KLHL41 CL E G H10324171433ORPHA129416905607701
HP:0002015HP:0002015Dysphagia0KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM133715646611119
HP:0002015HP:0002015Dysphagia0KMT2A CL E G H4297319182ORPHA120737132159555
HP:0002015HP:0002015Dysphagia0LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002015HP:0002015Dysphagia0LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA13576518600024
HP:0002015HP:0002015Dysphagia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0002015HP:0002015Dysphagia0LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM17821205609791
HP:0002015HP:0002015Dysphagia0LMOD3 CL E G H56203171430ORPHA13926649616112
HP:0002015HP:0002015Dysphagia0LRRK2 CL E G H120892411602ORPHA1294818618609007
HP:0002015HP:0002015Dysphagia0MAP2K2 CL E G H5605638ORPHA17206842601263
HP:0002015HP:0002015Dysphagia0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0002015HP:0002015Dysphagia0MATR3 CL E G H9782600ORPHA14506912164015
HP:0002015HP:0002015Dysphagia0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002015HP:0002015Dysphagia0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM119256990300005
HP:0002015HP:0002015Dysphagia0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0002015HP:0002015Dysphagia0MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0002015HP:0002015Dysphagia0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM196929634612453
HP:0002015HP:0002015Dysphagia0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0002015HP:0002015Dysphagia0MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002015HP:0002015Dysphagia0MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM14197095300552
HP:0002015HP:0002015Dysphagia0MMP1 CL E G H431279408ORPHA1977155120353
HP:0002015HP:0002015Dysphagia0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002015HP:0002015Dysphagia0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002015HP:0002015Dysphagia0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM141067577160760
HP:0002015HP:0002015Dysphagia0MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM13597578160741
HP:0002015HP:0002015Dysphagia0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM18633778615345
HP:0002015HP:0002015Dysphagia0MYO9A CL E G H464998914ORPHA12807608604875
HP:0002015HP:0002015Dysphagia0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0002015HP:0002015Dysphagia0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002015HP:0002015Dysphagia0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0002015HP:0002015Dysphagia0NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0002015HP:0002015Dysphagia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0002015HP:0002015Dysphagia0NEB CL E G H4703171430ORPHA185307720161650
HP:0002015HP:0002015Dysphagia0NEB CL E G H4703171433ORPHA185307720161650
HP:0002015HP:0002015Dysphagia0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM185307720161650
HP:0002015HP:0002015Dysphagia0NF1 CL E G H4763638ORPHA1123927765613113
HP:0002015HP:0002015Dysphagia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0002015HP:0002015Dysphagia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0002015HP:0002015Dysphagia0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0002015HP:0002015Dysphagia0NUP62 CL E G H23636225154ORPHA11618066605815
HP:0002015HP:0002015Dysphagia0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0002015HP:0002015Dysphagia0OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM142817142602432
HP:0002015HP:0002015Dysphagia0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025216866ORPHA149915894606157
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0002015HP:0002015Dysphagia0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1488729176740
HP:0002015HP:0002015Dysphagia0PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA12438794603390
HP:0002015HP:0002015Dysphagia0PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002015HP:0002015Dysphagia0PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM128328803173490
HP:0002015HP:0002015Dysphagia0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0002015HP:0002015Dysphagia0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0002015HP:0002015Dysphagia0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0002015HP:0002015Dysphagia0PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0002015HP:0002015Dysphagia0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0002015HP:0002015Dysphagia0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0002015HP:0002015Dysphagia0PLEC CL E G H5339158684ORPHA150689069601282
HP:0002015HP:0002015Dysphagia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0002015HP:0002015Dysphagia0PLXND1 CL E G H23129570ORPHA12149107604282
HP:0002015HP:0002015Dysphagia0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM15219153609023
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428254886ORPHA123249179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA123249179174763
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM1102530074614258
HP:0002015HP:0002015Dysphagia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0002015HP:0002015Dysphagia0PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0002015HP:0002015Dysphagia0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0002015HP:0002015Dysphagia0PRKRA CL E G H8575210571ORPHA11929438603424
HP:0002015HP:0002015Dysphagia0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002015HP:0002015Dysphagia0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0002015HP:0002015Dysphagia0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0002015HP:0002015Dysphagia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0002015HP:0002015Dysphagia0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002015HP:0002015Dysphagia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0002015HP:0002015Dysphagia0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM158226162617220
HP:0002015HP:0002015Dysphagia0QDPR CL E G H5860226ORPHA13199752612676
HP:0002015HP:0002015Dysphagia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0002015HP:0002015Dysphagia0RERE CL E G H4731606ORPHA16599965605226
HP:0002015HP:0002015Dysphagia0REV3L CL E G H5980570ORPHA12129968602776
HP:0002015HP:0002015Dysphagia0RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002015HP:0002015Dysphagia0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0002015HP:0002015Dysphagia0RNASEH1 CL E G H246243329336ORPHA118918466604123
HP:0002015HP:0002015Dysphagia0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM118918466604123
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H50484329336ORPHA135417296604712
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002015HP:0002015Dysphagia0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1616410483180901
HP:0002015HP:0002015Dysphagia0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0002015HP:0002015Dysphagia0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM1142010590182391
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H6329684ORPHA1176510591603967
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H632999734ORPHA1176510591603967
HP:0002015HP:0002015Dysphagia0SDHA CL E G H638944890ORPHA1250310680600857
HP:0002015HP:0002015Dysphagia0SDHB CL E G H639097286ORPHA1124910681185470
HP:0002015HP:0002015Dysphagia0SDHB CL E G H639044890ORPHA1124910681185470
HP:0002015HP:0002015Dysphagia0SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM1124910681185470
HP:0002015HP:0002015Dysphagia0SDHC CL E G H639144890ORPHA179810682602413
HP:0002015HP:0002015Dysphagia0SDHC CL E G H639197286ORPHA179810682602413
HP:0002015HP:0002015Dysphagia0SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM179810682602413
HP:0002015HP:0002015Dysphagia0SDHD CL E G H639297286ORPHA168610683602690
HP:0002015HP:0002015Dysphagia0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM165115999606210
HP:0002015HP:0002015Dysphagia0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM159410727608166
HP:0002015HP:0002015Dysphagia0SERPING1 CL E G H710100050ORPHA14581228606860
HP:0002015HP:0002015Dysphagia0SIK1 CL E G H1500941935ORPHA190911142605705
HP:0002015HP:0002015Dysphagia0SKI CL E G H64971606ORPHA1106210896164780
HP:0002015HP:0002015Dysphagia0SLC18A3 CL E G H657298914ORPHA130510936600336
HP:0002015HP:0002015Dysphagia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002015HP:0002015Dysphagia0SLC25A1 CL E G H657698914ORPHA156810979190315
HP:0002015HP:0002015Dysphagia0SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0002015HP:0002015Dysphagia0SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM146416187613350
HP:0002015HP:0002015Dysphagia0SLC5A7 CL E G H6048298914ORPHA145514025608761
HP:0002015HP:0002015Dysphagia0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM145514025608761
HP:0002015HP:0002015Dysphagia0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0002015HP:0002015Dysphagia0SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0002015HP:0002015Dysphagia0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM161211079300231
HP:0002015HP:0002015Dysphagia0SMC1A CL E G H8243319182ORPHA193911111300040
HP:0002015HP:0002015Dysphagia0SNAP25 CL E G H661698914ORPHA121811132600322
HP:0002015HP:0002015Dysphagia0SNCA CL E G H6622171695ORPHA119311138163890
HP:0002015HP:0002015Dysphagia0SNCA CL E G H6622411602ORPHA119311138163890
HP:0002015HP:0002015Dysphagia0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0002015HP:0002015Dysphagia0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0002015HP:0002015Dysphagia0SPART CL E G H23111101000ORPHA135318514607111
HP:0002015HP:0002015Dysphagia0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0002015HP:0002015Dysphagia0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0002015HP:0002015Dysphagia0SPG21 CL E G H51324101001ORPHA116220373608181
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H668735689ORPHA196611237602783
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0002015HP:0002015Dysphagia0SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002015HP:0002015Dysphagia0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0002015HP:0002015Dysphagia0SYT14 CL E G H255928284271ORPHA110423143610949
HP:0002015HP:0002015Dysphagia0SYT2 CL E G H12783398914ORPHA123211510600104
HP:0002015HP:0002015Dysphagia0TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002015HP:0002015Dysphagia0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0002015HP:0002015Dysphagia0TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002015HP:0002015Dysphagia0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0002015HP:0002015Dysphagia0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0002015HP:0002015Dysphagia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0002015HP:0002015Dysphagia0TK2 CL E G H7084254886ORPHA144211831188250
HP:0002015HP:0002015Dysphagia0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM144211831188250
HP:0002015HP:0002015Dysphagia0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134112011190990
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H7170171433ORPHA134312012191030
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134312012191030
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM134312012191030
HP:0002015HP:0002015Dysphagia0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0002015HP:0002015Dysphagia0TTBK2 CL E G H14605798767ORPHA133819141611695
HP:0002015HP:0002015Dysphagia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM127220774602662
HP:0002015HP:0002015Dysphagia0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM14501160606075
HP:0002015HP:0002015Dysphagia0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002015HP:0002015Dysphagia0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0002015HP:0002015Dysphagia0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0002015HP:0002015Dysphagia0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H684398914ORPHA114112642185880
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0002015HP:0002015Dysphagia0VCP CL E G H7415275872ORPHA160712666601023
HP:0002015HP:0002015Dysphagia0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0002015HP:0002015Dysphagia0VPS35 CL E G H55737411602ORPHA122813487601501
HP:0002015HP:0002015Dysphagia0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0002015HP:0002015Dysphagia0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0002015HP:0002068Neuromuscular dysphagia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0002015HP:0031146Impaired oral bolus formation1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0002015HP:0007024Pseudobulbar paralysis1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTA1 CL E G H58171433ORPHA1506129102610
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTA1 CL E G H58171430ORPHA1506129102610
HP:0002015HP:0002068Neuromuscular dysphagia1ACTA1 CL E G H58171433ORPHA1506129102610
HP:0002015HP:0031146Impaired oral bolus formation1ACTA1 CL E G H58171430ORPHA1506129102610
HP:0002015HP:0007024Pseudobulbar paralysis1ACTA1 CL E G H58171430ORPHA1506129102610
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTA1 CL E G H58171430ORPHA1506129102610
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTA1 CL E G H58171433ORPHA1506129102610
HP:0002015HP:0007024Pseudobulbar paralysis1ACTA1 CL E G H58171433ORPHA1506129102610
HP:0002015HP:0002068Neuromuscular dysphagia1ACTA1 CL E G H58171430ORPHA1506129102610
HP:0002015HP:0031146Impaired oral bolus formation1ACTA1 CL E G H58171433ORPHA1506129102610
HP:0002015HP:0031146Impaired oral bolus formation1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506129102610
HP:0002015HP:0007024Pseudobulbar paralysis1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506129102610
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506129102610
HP:0002015HP:0002068Neuromuscular dysphagia1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506129102610
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506129102610
HP:0002015HP:0002068Neuromuscular dysphagia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1506129102610
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1506129102610
HP:0002015HP:0031146Impaired oral bolus formation1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1506129102610
HP:0002015HP:0007024Pseudobulbar paralysis1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1506129102610
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1506129102610
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTB CL E G H6079107ORPHA1512132102630
HP:0002015HP:0002068Neuromuscular dysphagia1ACTB CL E G H6079107ORPHA1512132102630
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTB CL E G H6079107ORPHA1512132102630
HP:0002015HP:0031146Impaired oral bolus formation1ACTB CL E G H6079107ORPHA1512132102630
HP:0002015HP:0007024Pseudobulbar paralysis1ACTB CL E G H6079107ORPHA1512132102630
HP:0002015HP:0031146Impaired oral bolus formation1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM188145102545
HP:0002015HP:0007024Pseudobulbar paralysis1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM188145102545
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM188145102545
HP:0002015HP:0002068Neuromuscular dysphagia1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM188145102545
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM188145102545
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ADAR CL E G H103225154ORPHA11122225146920
HP:0002015HP:0031146Impaired oral bolus formation1ADAR CL E G H103225154ORPHA11122225146920
HP:0002015HP:0007024Pseudobulbar paralysis1ADAR CL E G H103225154ORPHA11122225146920
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ADAR CL E G H103225154ORPHA11122225146920
HP:0002015HP:0002068Neuromuscular dysphagia1ADAR CL E G H103225154ORPHA11122225146920
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1179245601568
HP:0002015HP:0002068Neuromuscular dysphagia1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1179245601568
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1179245601568
HP:0002015HP:0007024Pseudobulbar paralysis1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1179245601568
HP:0002015HP:0031146Impaired oral bolus formation1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1179245601568
HP:0002015HP:0002068Neuromuscular dysphagia1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002015HP:0031162Impaired oropharyngeal swallow response1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002015HP:0031146Impaired oral bolus formation1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002015HP:0007024Pseudobulbar paralysis1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002015HP:0200136Oral-pharyngeal dysphagia1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002015HP:0031162Impaired oropharyngeal swallow response1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0002015HP:0007024Pseudobulbar paralysis1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0002015HP:0031146Impaired oral bolus formation1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0002015HP:0200136Oral-pharyngeal dysphagia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0002015HP:0002068Neuromuscular dysphagia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0002015HP:0031162Impaired oropharyngeal swallow response1AGRN CL E G H37579098914ORPHA12176329103320
HP:0002015HP:0031146Impaired oral bolus formation1AGRN CL E G H37579098914ORPHA12176329103320
HP:0002015HP:0007024Pseudobulbar paralysis1AGRN CL E G H37579098914ORPHA12176329103320
HP:0002015HP:0200136Oral-pharyngeal dysphagia1AGRN CL E G H37579098914ORPHA12176329103320
HP:0002015HP:0002068Neuromuscular dysphagia1AGRN CL E G H37579098914ORPHA12176329103320
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0002015HP:0002068Neuromuscular dysphagia1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0002015HP:0031146Impaired oral bolus formation1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0002015HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0002015HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0002015HP:0031146Impaired oral bolus formation1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0002015HP:0002068Neuromuscular dysphagia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0002015HP:0031146Impaired oral bolus formation1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0002015HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0002015HP:0002068Neuromuscular dysphagia1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0002015HP:0031146Impaired oral bolus formation1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0002015HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0002015HP:0002068Neuromuscular dysphagia1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0002015HP:0031146Impaired oral bolus formation1APP CL E G H351324708ORPHA1506620104760
HP:0002015HP:0007024Pseudobulbar paralysis1APP CL E G H351324708ORPHA1506620104760
HP:0002015HP:0200136Oral-pharyngeal dysphagia1APP CL E G H351324708ORPHA1506620104760
HP:0002015HP:0002068Neuromuscular dysphagia1APP CL E G H351324708ORPHA1506620104760
HP:0002015HP:0031162Impaired oropharyngeal swallow response1APP CL E G H351324708ORPHA1506620104760
HP:0002015HP:0002068Neuromuscular dysphagia1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0002015HP:0031162Impaired oropharyngeal swallow response1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0002015HP:0031146Impaired oral bolus formation1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0002015HP:0007024Pseudobulbar paralysis1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0002015HP:0200136Oral-pharyngeal dysphagia1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0002015HP:0002068Neuromuscular dysphagia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002015HP:0031146Impaired oral bolus formation1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002015HP:0007024Pseudobulbar paralysis1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002015HP:0007024Pseudobulbar paralysis1ASPA CL E G H443314911ORPHA1388756608034
HP:0002015HP:0031146Impaired oral bolus formation1ASPA CL E G H443314911ORPHA1388756608034
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ASPA CL E G H443314911ORPHA1388756608034
HP:0002015HP:0002068Neuromuscular dysphagia1ASPA CL E G H443314911ORPHA1388756608034
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ASPA CL E G H443314911ORPHA1388756608034
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0002015HP:0002068Neuromuscular dysphagia1ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0002015HP:0007024Pseudobulbar paralysis1ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0002015HP:0031146Impaired oral bolus formation1ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0002015HP:0031146Impaired oral bolus formation1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0002015HP:0007024Pseudobulbar paralysis1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0002015HP:0002068Neuromuscular dysphagia1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATP7A CL E G H538198ORPHA11751869300011
HP:0002015HP:0031146Impaired oral bolus formation1ATP7A CL E G H538198ORPHA11751869300011
HP:0002015HP:0007024Pseudobulbar paralysis1ATP7A CL E G H538198ORPHA11751869300011
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP7A CL E G H538198ORPHA11751869300011
HP:0002015HP:0002068Neuromuscular dysphagia1ATP7A CL E G H538198ORPHA11751869300011
HP:0002015HP:0002068Neuromuscular dysphagia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0002015HP:0031146Impaired oral bolus formation1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0002015HP:0007024Pseudobulbar paralysis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0002015HP:0031146Impaired oral bolus formation1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002015HP:0031146Impaired oral bolus formation1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002015HP:0031146Impaired oral bolus formation1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002015HP:0031146Impaired oral bolus formation1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1657106607047
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1657106607047
HP:0002015HP:0031146Impaired oral bolus formation1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1657106607047
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1657106607047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1657106607047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0002015HP:0031146Impaired oral bolus formation1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0002015HP:0031146Impaired oral bolus formation1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
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 8608768C1837454OMIM18710561603680
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002015HP:0031146Impaired oral bolus formation1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002015HP:0200136Oral-pharyngeal dysphagia1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM111821097164757
HP:0002015HP:0002068Neuromuscular dysphagia1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM111821097164757
HP:0002015HP:0031162Impaired oropharyngeal swallow response1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM111821097164757
HP:0002015HP:0031146Impaired oral bolus formation1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM111821097164757
HP:0002015HP:0007024Pseudobulbar paralysis1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM111821097164757
HP:0002015HP:0002068Neuromuscular dysphagia1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002015HP:0031162Impaired oropharyngeal swallow response1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002015HP:0031146Impaired oral bolus formation1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002015HP:0007024Pseudobulbar paralysis1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002015HP:0200136Oral-pharyngeal dysphagia1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0002015HP:0007024Pseudobulbar paralysis1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002015HP:0031146Impaired oral bolus formation1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002015HP:0200136Oral-pharyngeal dysphagia1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002015HP:0002068Neuromuscular dysphagia1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002015HP:0031162Impaired oropharyngeal swallow response1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0002015HP:0031146Impaired oral bolus formation1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0002015HP:0007024Pseudobulbar paralysis1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0002015HP:0002068Neuromuscular dysphagia1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0002015HP:0002068Neuromuscular dysphagia1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM132481388601011
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM132481388601011
HP:0002015HP:0007024Pseudobulbar paralysis1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM132481388601011
HP:0002015HP:0031146Impaired oral bolus formation1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM132481388601011
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM132481388601011
HP:0002015HP:0031146Impaired oral bolus formation1CACNA1G CL E G H8913458803ORPHA18221394604065
HP:0002015HP:0007024Pseudobulbar paralysis1CACNA1G CL E G H8913458803ORPHA18221394604065
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CACNA1G CL E G H8913458803ORPHA18221394604065
HP:0002015HP:0002068Neuromuscular dysphagia1CACNA1G CL E G H8913458803ORPHA18221394604065
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CACNA1G CL E G H8913458803ORPHA18221394604065
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM177027089610859
HP:0002015HP:0002068Neuromuscular dysphagia1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM177027089610859
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM177027089610859
HP:0002015HP:0031146Impaired oral bolus formation1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM177027089610859
HP:0002015HP:0007024Pseudobulbar paralysis1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM177027089610859
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CAV1 CL E G H857220402ORPHA11351527601047
HP:0002015HP:0002068Neuromuscular dysphagia1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002015HP:0031146Impaired oral bolus formation1CAV1 CL E G H857220402ORPHA11351527601047
HP:0002015HP:0007024Pseudobulbar paralysis1CAV1 CL E G H857220402ORPHA11351527601047
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CAV1 CL E G H857220402ORPHA11351527601047
HP:0002015HP:0031146Impaired oral bolus formation1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002015HP:0007024Pseudobulbar paralysis1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002015HP:0002068Neuromuscular dysphagia1CAV1 CL E G H857220402ORPHA11351527601047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0002015HP:0002068Neuromuscular dysphagia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0002015HP:0007024Pseudobulbar paralysis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0002015HP:0031146Impaired oral bolus formation1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11289688603198
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CCN2 CL E G H1490220402ORPHA1322500121009
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002015HP:0002068Neuromuscular dysphagia1CCN2 CL E G H1490220402ORPHA1322500121009
HP:0002015HP:0031146Impaired oral bolus formation1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002015HP:0007024Pseudobulbar paralysis1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CCN2 CL E G H1490220402ORPHA1322500121009
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002015HP:0031146Impaired oral bolus formation1CCN2 CL E G H1490220402ORPHA1322500121009
HP:0002015HP:0007024Pseudobulbar paralysis1CCN2 CL E G H1490220402ORPHA1322500121009
HP:0002015HP:0002068Neuromuscular dysphagia1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CCR6 CL E G H1235220402ORPHA1651607601835
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002015HP:0031146Impaired oral bolus formation1CCR6 CL E G H1235220402ORPHA1651607601835
HP:0002015HP:0007024Pseudobulbar paralysis1CCR6 CL E G H1235220402ORPHA1651607601835
HP:0002015HP:0002068Neuromuscular dysphagia1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CCR6 CL E G H1235220402ORPHA1651607601835
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002015HP:0007024Pseudobulbar paralysis1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002015HP:0002068Neuromuscular dysphagia1CCR6 CL E G H1235220402ORPHA1651607601835
HP:0002015HP:0031146Impaired oral bolus formation1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CDC73 CL E G H79577143ORPHA1138416783607393
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CDC73 CL E G H7957799880ORPHA1138416783607393
HP:0002015HP:0002068Neuromuscular dysphagia1CDC73 CL E G H79577143ORPHA1138416783607393
HP:0002015HP:0002068Neuromuscular dysphagia1CDC73 CL E G H7957799880ORPHA1138416783607393
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CDC73 CL E G H79577143ORPHA1138416783607393
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CDC73 CL E G H7957799880ORPHA1138416783607393
HP:0002015HP:0007024Pseudobulbar paralysis1CDC73 CL E G H79577143ORPHA1138416783607393
HP:0002015HP:0031146Impaired oral bolus formation1CDC73 CL E G H79577143ORPHA1138416783607393
HP:0002015HP:0031146Impaired oral bolus formation1CDC73 CL E G H7957799880ORPHA1138416783607393
HP:0002015HP:0007024Pseudobulbar paralysis1CDC73 CL E G H7957799880ORPHA1138416783607393
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHAT CL E G H110398914ORPHA19841912118490
HP:0002015HP:0002068Neuromuscular dysphagia1CHAT CL E G H110398914ORPHA19841912118490
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHAT CL E G H110398914ORPHA19841912118490
HP:0002015HP:0031146Impaired oral bolus formation1CHAT CL E G H110398914ORPHA19841912118490
HP:0002015HP:0007024Pseudobulbar paralysis1CHAT CL E G H110398914ORPHA19841912118490
HP:0002015HP:0031146Impaired oral bolus formation1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM19841912118490
HP:0002015HP:0007024Pseudobulbar paralysis1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM19841912118490
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM19841912118490
HP:0002015HP:0002068Neuromuscular dysphagia1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM19841912118490
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM19841912118490
HP:0002015HP:0002068Neuromuscular dysphagia1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002015HP:0031146Impaired oral bolus formation1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002015HP:0007024Pseudobulbar paralysis1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0002015HP:0031146Impaired oral bolus formation1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0002015HP:0007024Pseudobulbar paralysis1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0002015HP:0002068Neuromuscular dysphagia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0002015HP:0002068Neuromuscular dysphagia1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1293020626608892
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1293020626608892
HP:0002015HP:0007024Pseudobulbar paralysis1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1293020626608892
HP:0002015HP:0031146Impaired oral bolus formation1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1293020626608892
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1293020626608892
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM116024537609512
HP:0002015HP:0002068Neuromuscular dysphagia1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM116024537609512
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM116024537609512
HP:0002015HP:0031146Impaired oral bolus formation1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM116024537609512
HP:0002015HP:0007024Pseudobulbar paralysis1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM116024537609512
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM14681955100690
HP:0002015HP:0002068Neuromuscular dysphagia1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM14681955100690
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM14681955100690
HP:0002015HP:0031146Impaired oral bolus formation1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM14681955100690
HP:0002015HP:0007024Pseudobulbar paralysis1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM14681955100690
HP:0002015HP:0007024Pseudobulbar paralysis1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM14681955100690
HP:0002015HP:0031146Impaired oral bolus formation1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM14681955100690
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM14681955100690
HP:0002015HP:0002068Neuromuscular dysphagia1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM14681955100690
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM14681955100690
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM15051965100720
HP:0002015HP:0002068Neuromuscular dysphagia1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM15051965100720
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM15051965100720
HP:0002015HP:0031146Impaired oral bolus formation1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM15051965100720
HP:0002015HP:0007024Pseudobulbar paralysis1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM15051965100720
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM15051965100720
HP:0002015HP:0031146Impaired oral bolus formation1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM15051965100720
HP:0002015HP:0007024Pseudobulbar paralysis1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM15051965100720
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM15051965100720
HP:0002015HP:0002068Neuromuscular dysphagia1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM15051965100720
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM110111966100725
HP:0002015HP:0002068Neuromuscular dysphagia1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM110111966100725
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM110111966100725
HP:0002015HP:0031146Impaired oral bolus formation1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM110111966100725
HP:0002015HP:0007024Pseudobulbar paralysis1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM110111966100725
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM110111966100725
HP:0002015HP:0031146Impaired oral bolus formation1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM110111966100725
HP:0002015HP:0007024Pseudobulbar paralysis1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM110111966100725
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM110111966100725
HP:0002015HP:0002068Neuromuscular dysphagia1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM110111966100725
HP:0002015HP:0031146Impaired oral bolus formation1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM110642019118425
HP:0002015HP:0007024Pseudobulbar paralysis1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM110642019118425
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM110642019118425
HP:0002015HP:0002068Neuromuscular dysphagia1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM110642019118425
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM110642019118425
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL13A1 CL E G H130598914ORPHA15592190120350
HP:0002015HP:0007024Pseudobulbar paralysis1COL13A1 CL E G H130598914ORPHA15592190120350
HP:0002015HP:0031146Impaired oral bolus formation1COL13A1 CL E G H130598914ORPHA15592190120350
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL13A1 CL E G H130598914ORPHA15592190120350
HP:0002015HP:0002068Neuromuscular dysphagia1COL13A1 CL E G H130598914ORPHA15592190120350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL7A1 CL E G H129489842ORPHA137772214120120
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL7A1 CL E G H129479409ORPHA137772214120120
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL7A1 CL E G H129479408ORPHA137772214120120
HP:0002015HP:0007024Pseudobulbar paralysis1COL7A1 CL E G H129479408ORPHA137772214120120
HP:0002015HP:0031146Impaired oral bolus formation1COL7A1 CL E G H129489842ORPHA137772214120120
HP:0002015HP:0007024Pseudobulbar paralysis1COL7A1 CL E G H129489842ORPHA137772214120120
HP:0002015HP:0031146Impaired oral bolus formation1COL7A1 CL E G H129479409ORPHA137772214120120
HP:0002015HP:0007024Pseudobulbar paralysis1COL7A1 CL E G H129479409ORPHA137772214120120
HP:0002015HP:0031146Impaired oral bolus formation1COL7A1 CL E G H129479408ORPHA137772214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL7A1 CL E G H129489842ORPHA137772214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL7A1 CL E G H129479409ORPHA137772214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL7A1 CL E G H129479408ORPHA137772214120120
HP:0002015HP:0002068Neuromuscular dysphagia1COL7A1 CL E G H129489842ORPHA137772214120120
HP:0002015HP:0002068Neuromuscular dysphagia1COL7A1 CL E G H129479409ORPHA137772214120120
HP:0002015HP:0002068Neuromuscular dysphagia1COL7A1 CL E G H129479408ORPHA137772214120120
HP:0002015HP:0031146Impaired oral bolus formation1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM137772214120120
HP:0002015HP:0007024Pseudobulbar paralysis1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM137772214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM137772214120120
HP:0002015HP:0002068Neuromuscular dysphagia1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM137772214120120
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM137772214120120
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COLQ CL E G H829298915ORPHA15422226603033
HP:0002015HP:0031146Impaired oral bolus formation1COLQ CL E G H829298915ORPHA15422226603033
HP:0002015HP:0007024Pseudobulbar paralysis1COLQ CL E G H829298915ORPHA15422226603033
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COLQ CL E G H829298915ORPHA15422226603033
HP:0002015HP:0002068Neuromuscular dysphagia1COLQ CL E G H829298915ORPHA15422226603033
HP:0002015HP:0031146Impaired oral bolus formation1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0002015HP:0007024Pseudobulbar paralysis1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0002015HP:0002068Neuromuscular dysphagia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM129119693612898
HP:0002015HP:0007024Pseudobulbar paralysis1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM129119693612898
HP:0002015HP:0031146Impaired oral bolus formation1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM129119693612898
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM129119693612898
HP:0002015HP:0002068Neuromuscular dysphagia1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM129119693612898
HP:0002015HP:0031146Impaired oral bolus formation1CRYAB CL E G H1410399058ORPHA12732389123590
HP:0002015HP:0007024Pseudobulbar paralysis1CRYAB CL E G H1410399058ORPHA12732389123590
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CRYAB CL E G H1410399058ORPHA12732389123590
HP:0002015HP:0002068Neuromuscular dysphagia1CRYAB CL E G H1410399058ORPHA12732389123590
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CRYAB CL E G H1410399058ORPHA12732389123590
HP:0002015HP:0002068Neuromuscular dysphagia1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM17782518606272
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM17782518606272
HP:0002015HP:0031146Impaired oral bolus formation1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM17782518606272
HP:0002015HP:0007024Pseudobulbar paralysis1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM17782518606272
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM17782518606272
HP:0002015HP:0002068Neuromuscular dysphagia1DDHD2 CL E G H23259320380ORPHA134129106615003
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DDHD2 CL E G H23259320380ORPHA134129106615003
HP:0002015HP:0007024Pseudobulbar paralysis1DDHD2 CL E G H23259320380ORPHA134129106615003
HP:0002015HP:0031146Impaired oral bolus formation1DDHD2 CL E G H23259320380ORPHA134129106615003
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DDHD2 CL E G H23259320380ORPHA134129106615003
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0002015HP:0002068Neuromuscular dysphagia1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0002015HP:0031146Impaired oral bolus formation1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0002015HP:0007024Pseudobulbar paralysis1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0002015HP:0002068Neuromuscular dysphagia1DGUOK CL E G H1716329314ORPHA12392858601465
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DGUOK CL E G H1716329314ORPHA12392858601465
HP:0002015HP:0031146Impaired oral bolus formation1DGUOK CL E G H1716329314ORPHA12392858601465
HP:0002015HP:0007024Pseudobulbar paralysis1DGUOK CL E G H1716329314ORPHA12392858601465
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DGUOK CL E G H1716329314ORPHA12392858601465
HP:0002015HP:0002068Neuromuscular dysphagia1DKK1 CL E G H22943268882ORPHA1342891605189
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DKK1 CL E G H22943268882ORPHA1342891605189
HP:0002015HP:0031146Impaired oral bolus formation1DKK1 CL E G H22943268882ORPHA1342891605189
HP:0002015HP:0007024Pseudobulbar paralysis1DKK1 CL E G H22943268882ORPHA1342891605189
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DKK1 CL E G H22943268882ORPHA1342891605189
HP:0002015HP:0007024Pseudobulbar paralysis1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0002015HP:0031146Impaired oral bolus formation1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0002015HP:0002068Neuromuscular dysphagia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DNAJB6 CL E G H1004934516ORPHA148714888611332
HP:0002015HP:0031146Impaired oral bolus formation1DNAJB6 CL E G H1004934516ORPHA148714888611332
HP:0002015HP:0007024Pseudobulbar paralysis1DNAJB6 CL E G H1004934516ORPHA148714888611332
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DNAJB6 CL E G H1004934516ORPHA148714888611332
HP:0002015HP:0002068Neuromuscular dysphagia1DNAJB6 CL E G H1004934516ORPHA148714888611332
HP:0002015HP:0002068Neuromuscular dysphagia1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM148714888611332
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM148714888611332
HP:0002015HP:0007024Pseudobulbar paralysis1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM148714888611332
HP:0002015HP:0031146Impaired oral bolus formation1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM148714888611332
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM148714888611332
HP:0002015HP:0002068Neuromuscular dysphagia1DNAJC13 CL E G H23317411602ORPHA123730343614334
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DNAJC13 CL E G H23317411602ORPHA123730343614334
HP:0002015HP:0031146Impaired oral bolus formation1DNAJC13 CL E G H23317411602ORPHA123730343614334
HP:0002015HP:0007024Pseudobulbar paralysis1DNAJC13 CL E G H23317411602ORPHA123730343614334
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DNAJC13 CL E G H23317411602ORPHA123730343614334
HP:0002015HP:0200136Oral-pharyngeal dysphagia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0002015HP:0002068Neuromuscular dysphagia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0002015HP:0031162Impaired oropharyngeal swallow response1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0002015HP:0031146Impaired oral bolus formation1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0002015HP:0007024Pseudobulbar paralysis1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0002015HP:0007024Pseudobulbar paralysis1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0002015HP:0031146Impaired oral bolus formation1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0002015HP:0002068Neuromuscular dysphagia1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0002015HP:0007024Pseudobulbar paralysis1EIF4G1 CL E G H1981411602ORPHA11473296600495
HP:0002015HP:0031146Impaired oral bolus formation1EIF4G1 CL E G H1981411602ORPHA11473296600495
HP:0002015HP:0200136Oral-pharyngeal dysphagia1EIF4G1 CL E G H1981411602ORPHA11473296600495
HP:0002015HP:0002068Neuromuscular dysphagia1EIF4G1 CL E G H1981411602ORPHA11473296600495
HP:0002015HP:0031162Impaired oropharyngeal swallow response1EIF4G1 CL E G H1981411602ORPHA11473296600495
HP:0002015HP:0031162Impaired oropharyngeal swallow response1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002015HP:0031146Impaired oral bolus formation1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002015HP:0007024Pseudobulbar paralysis1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002015HP:0200136Oral-pharyngeal dysphagia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002015HP:0002068Neuromuscular dysphagia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0002015HP:0031146Impaired oral bolus formation1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0002015HP:0007024Pseudobulbar paralysis1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0002015HP:0002068Neuromuscular dysphagia1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0002015HP:0002068Neuromuscular dysphagia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0002015HP:0031162Impaired oropharyngeal swallow response1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0002015HP:0031146Impaired oral bolus formation1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0002015HP:0007024Pseudobulbar paralysis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM156613601605654
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0002015HP:0002068Neuromuscular dysphagia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0002015HP:0031162Impaired oropharyngeal swallow response1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0002015HP:0031146Impaired oral bolus formation1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0002015HP:0007024Pseudobulbar paralysis1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0002015HP:0031162Impaired oropharyngeal swallow response1FERMT1 CL E G H556122908ORPHA151915889607900
HP:0002015HP:0031146Impaired oral bolus formation1FERMT1 CL E G H556122908ORPHA151915889607900
HP:0002015HP:0007024Pseudobulbar paralysis1FERMT1 CL E G H556122908ORPHA151915889607900
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FERMT1 CL E G H556122908ORPHA151915889607900
HP:0002015HP:0002068Neuromuscular dysphagia1FERMT1 CL E G H556122908ORPHA151915889607900
HP:0002015HP:0002068Neuromuscular dysphagia1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM123524671610595
HP:0002015HP:0031162Impaired oropharyngeal swallow response1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM123524671610595
HP:0002015HP:0007024Pseudobulbar paralysis1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM123524671610595
HP:0002015HP:0031146Impaired oral bolus formation1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM123524671610595
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM123524671610595
HP:0002015HP:0031162Impaired oropharyngeal swallow response1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0002015HP:0031146Impaired oral bolus formation1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0002015HP:0007024Pseudobulbar paralysis1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0002015HP:0002068Neuromuscular dysphagia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0002015HP:0031146Impaired oral bolus formation1FUS CL E G H2521275872ORPHA14744010137070
HP:0002015HP:0007024Pseudobulbar paralysis1FUS CL E G H2521275872ORPHA14744010137070
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FUS CL E G H2521275872ORPHA14744010137070
HP:0002015HP:0002068Neuromuscular dysphagia1FUS CL E G H2521275872ORPHA14744010137070
HP:0002015HP:0031162Impaired oropharyngeal swallow response1FUS CL E G H2521275872ORPHA14744010137070
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GABRD CL E G H25631606ORPHA14744084137163
HP:0002015HP:0031146Impaired oral bolus formation1GABRD CL E G H25631606ORPHA14744084137163
HP:0002015HP:0007024Pseudobulbar paralysis1GABRD CL E G H25631606ORPHA14744084137163
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GABRD CL E G H25631606ORPHA14744084137163
HP:0002015HP:0002068Neuromuscular dysphagia1GABRD CL E G H25631606ORPHA14744084137163
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GBA CL E G H262977260ORPHA14177606463
HP:0002015HP:0002068Neuromuscular dysphagia1GBA CL E G H2629411602ORPHA14177606463
HP:0002015HP:0031146Impaired oral bolus formation1GBA CL E G H262977260ORPHA14177606463
HP:0002015HP:0007024Pseudobulbar paralysis1GBA CL E G H262977260ORPHA14177606463
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GBA CL E G H2629411602ORPHA14177606463
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GBA CL E G H262977260ORPHA14177606463
HP:0002015HP:0031146Impaired oral bolus formation1GBA CL E G H2629411602ORPHA14177606463
HP:0002015HP:0007024Pseudobulbar paralysis1GBA CL E G H2629411602ORPHA14177606463
HP:0002015HP:0002068Neuromuscular dysphagia1GBA CL E G H262977260ORPHA14177606463
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GBA CL E G H2629411602ORPHA14177606463
HP:0002015HP:0002068Neuromuscular dysphagia1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0002015HP:0031146Impaired oral bolus formation1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0002015HP:0007024Pseudobulbar paralysis1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0002015HP:0031146Impaired oral bolus formation1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0002015HP:0007024Pseudobulbar paralysis1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0002015HP:0002068Neuromuscular dysphagia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0002015HP:0002068Neuromuscular dysphagia1GBA2 CL E G H57704352641ORPHA135518986609471
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GBA2 CL E G H57704352641ORPHA135518986609471
HP:0002015HP:0007024Pseudobulbar paralysis1GBA2 CL E G H57704352641ORPHA135518986609471
HP:0002015HP:0031146Impaired oral bolus formation1GBA2 CL E G H57704352641ORPHA135518986609471
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GBA2 CL E G H57704352641ORPHA135518986609471
HP:0002015HP:0031146Impaired oral bolus formation1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0002015HP:0007024Pseudobulbar paralysis1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0002015HP:0002068Neuromuscular dysphagia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM124115717606969
HP:0002015HP:0031146Impaired oral bolus formation1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM124115717606969
HP:0002015HP:0007024Pseudobulbar paralysis1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM124115717606969
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM124115717606969
HP:0002015HP:0002068Neuromuscular dysphagia1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM124115717606969
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15244241138292
HP:0002015HP:0002068Neuromuscular dysphagia1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15244241138292
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15244241138292
HP:0002015HP:0031146Impaired oral bolus formation1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15244241138292
HP:0002015HP:0007024Pseudobulbar paralysis1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15244241138292
HP:0002015HP:0031146Impaired oral bolus formation1GIGYF2 CL E G H26058411602ORPHA133811960612003
HP:0002015HP:0007024Pseudobulbar paralysis1GIGYF2 CL E G H26058411602ORPHA133811960612003
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GIGYF2 CL E G H26058411602ORPHA133811960612003
HP:0002015HP:0002068Neuromuscular dysphagia1GIGYF2 CL E G H26058411602ORPHA133811960612003
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GIGYF2 CL E G H26058411602ORPHA133811960612003
HP:0002015HP:0002068Neuromuscular dysphagia1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002015HP:0031146Impaired oral bolus formation1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002015HP:0007024Pseudobulbar paralysis1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM115022923615495
HP:0002015HP:0031146Impaired oral bolus formation1GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM115022923615495
HP:0002015HP:0007024Pseudobulbar paralysis1GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM115022923615495
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM115022923615495
HP:0002015HP:0002068Neuromuscular dysphagia1GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM115022923615495
HP:0002015HP:0002068Neuromuscular dysphagia1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM16164422607664
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM16164422607664
HP:0002015HP:0031146Impaired oral bolus formation1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM16164422607664
HP:0002015HP:0007024Pseudobulbar paralysis1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM16164422607664
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM16164422607664
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0002015HP:0031146Impaired oral bolus formation1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0002015HP:0007024Pseudobulbar paralysis1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0002015HP:0002068Neuromuscular dysphagia1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM11024685139396
HP:0002015HP:0002068Neuromuscular dysphagia1GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM11024685139396
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM11024685139396
HP:0002015HP:0031146Impaired oral bolus formation1GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM11024685139396
HP:0002015HP:0007024Pseudobulbar paralysis1GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM11024685139396
HP:0002015HP:0031146Impaired oral bolus formation1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM1104926527610453
HP:0002015HP:0007024Pseudobulbar paralysis1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM1104926527610453
HP:0002015HP:0200136Oral-pharyngeal dysphagia1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM1104926527610453
HP:0002015HP:0002068Neuromuscular dysphagia1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM1104926527610453
HP:0002015HP:0031162Impaired oropharyngeal swallow response1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM1104926527610453
HP:0002015HP:0031162Impaired oropharyngeal swallow response1HLA-B CL E G H310636426ORPHA1294932142830
HP:0002015HP:0007024Pseudobulbar paralysis1HLA-B CL E G H310636426ORPHA1294932142830
HP:0002015HP:0031146Impaired oral bolus formation1HLA-B CL E G H310636426ORPHA1294932142830
HP:0002015HP:0200136Oral-pharyngeal dysphagia1HLA-B CL E G H310636426ORPHA1294932142830
HP:0002015HP:0002068Neuromuscular dysphagia1HLA-B CL E G H310636426ORPHA1294932142830
HP:0002015HP:0031162Impaired oropharyngeal swallow response1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002015HP:0200136Oral-pharyngeal dysphagia1HLA-DRB1 CL E G H3123220402ORPHA1414948142857
HP:0002015HP:0031146Impaired oral bolus formation1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002015HP:0007024Pseudobulbar paralysis1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002015HP:0002068Neuromuscular dysphagia1HLA-DRB1 CL E G H3123220402ORPHA1414948142857
HP:0002015HP:0200136Oral-pharyngeal dysphagia1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002015HP:0031162Impaired oropharyngeal swallow response1HLA-DRB1 CL E G H3123220402ORPHA1414948142857
HP:0002015HP:0002068Neuromuscular dysphagia1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002015HP:0031146Impaired oral bolus formation1HLA-DRB1 CL E G H3123220402ORPHA1414948142857
HP:0002015HP:0007024Pseudobulbar paralysis1HLA-DRB1 CL E G H3123220402ORPHA1414948142857
HP:0002015HP:0200136Oral-pharyngeal dysphagia1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0002015HP:0002068Neuromuscular dysphagia1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0002015HP:0031162Impaired oropharyngeal swallow response1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0002015HP:0007024Pseudobulbar paralysis1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0002015HP:0031146Impaired oral bolus formation1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0002015HP:0002068Neuromuscular dysphagia1HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1505144142622
HP:0002015HP:0031162Impaired oropharyngeal swallow response1HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1505144142622
HP:0002015HP:0031146Impaired oral bolus formation1HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1505144142622
HP:0002015HP:0007024Pseudobulbar paralysis1HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1505144142622
HP:0002015HP:0200136Oral-pharyngeal dysphagia1HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1505144142622
HP:0002015HP:0002068Neuromuscular dysphagia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002015HP:0031162Impaired oropharyngeal swallow response1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002015HP:0031146Impaired oral bolus formation1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002015HP:0007024Pseudobulbar paralysis1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002015HP:0200136Oral-pharyngeal dysphagia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002015HP:0031162Impaired oropharyngeal swallow response1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0002015HP:0031146Impaired oral bolus formation1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0002015HP:0007024Pseudobulbar paralysis1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0002015HP:0200136Oral-pharyngeal dysphagia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0002015HP:0002068Neuromuscular dysphagia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0002015HP:0200136Oral-pharyngeal dysphagia1IKZF1 CL E G H1032036426ORPHA120013176603023
HP:0002015HP:0002068Neuromuscular dysphagia1IKZF1 CL E G H1032036426ORPHA120013176603023
HP:0002015HP:0031162Impaired oropharyngeal swallow response1IKZF1 CL E G H1032036426ORPHA120013176603023
HP:0002015HP:0031146Impaired oral bolus formation1IKZF1 CL E G H1032036426ORPHA120013176603023
HP:0002015HP:0007024Pseudobulbar paralysis1IKZF1 CL E G H1032036426ORPHA120013176603023
HP:0002015HP:0200136Oral-pharyngeal dysphagia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0002015HP:0002068Neuromuscular dysphagia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0002015HP:0031162Impaired oropharyngeal swallow response1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0002015HP:0031146Impaired oral bolus formation1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0002015HP:0007024Pseudobulbar paralysis1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0002015HP:0031162Impaired oropharyngeal swallow response1IRF5 CL E G H3663220402ORPHA1656120607218
HP:0002015HP:0200136Oral-pharyngeal dysphagia1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002015HP:0031146Impaired oral bolus formation1IRF5 CL E G H3663220402ORPHA1656120607218
HP:0002015HP:0007024Pseudobulbar paralysis1IRF5 CL E G H3663220402ORPHA1656120607218
HP:0002015HP:0002068Neuromuscular dysphagia1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002015HP:0200136Oral-pharyngeal dysphagia1IRF5 CL E G H3663220402ORPHA1656120607218
HP:0002015HP:0031162Impaired oropharyngeal swallow response1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002015HP:0002068Neuromuscular dysphagia1IRF5 CL E G H3663220402ORPHA1656120607218
HP:0002015HP:0031146Impaired oral bolus formation1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002015HP:0007024Pseudobulbar paralysis1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ITGB4 CL E G H3691158684ORPHA16986158147557
HP:0002015HP:0031146Impaired oral bolus formation1ITGB4 CL E G H3691158684ORPHA16986158147557
HP:0002015HP:0007024Pseudobulbar paralysis1ITGB4 CL E G H3691158684ORPHA16986158147557
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ITGB4 CL E G H3691158684ORPHA16986158147557
HP:0002015HP:0002068Neuromuscular dysphagia1ITGB4 CL E G H3691158684ORPHA16986158147557
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0002015HP:0002068Neuromuscular dysphagia1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0002015HP:0007024Pseudobulbar paralysis1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0002015HP:0031146Impaired oral bolus formation1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0002015HP:0002068Neuromuscular dysphagia1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0002015HP:0031146Impaired oral bolus formation1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0002015HP:0007024Pseudobulbar paralysis1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0002015HP:0002068Neuromuscular dysphagia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0002015HP:0031146Impaired oral bolus formation1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0002015HP:0007024Pseudobulbar paralysis1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0002015HP:0002068Neuromuscular dysphagia1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0002015HP:0031146Impaired oral bolus formation1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0002015HP:0007024Pseudobulbar paralysis1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KIAA0319L CL E G H79932220402ORPHA15730071613535
HP:0002015HP:0002068Neuromuscular dysphagia1KIAA0319L CL E G H79932220402ORPHA15730071613535
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KIAA0319L CL E G H79932220402ORPHA15730071613535
HP:0002015HP:0031146Impaired oral bolus formation1KIAA0319L CL E G H79932220402ORPHA15730071613535
HP:0002015HP:0007024Pseudobulbar paralysis1KIAA0319L CL E G H79932220402ORPHA15730071613535
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0002015HP:0002068Neuromuscular dysphagia1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0002015HP:0007024Pseudobulbar paralysis1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0002015HP:0031146Impaired oral bolus formation1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KIT CL E G H381544890ORPHA124886342164920
HP:0002015HP:0031146Impaired oral bolus formation1KIT CL E G H381544890ORPHA124886342164920
HP:0002015HP:0007024Pseudobulbar paralysis1KIT CL E G H381544890ORPHA124886342164920
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KIT CL E G H381544890ORPHA124886342164920
HP:0002015HP:0002068Neuromuscular dysphagia1KIT CL E G H381544890ORPHA124886342164920
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM124886342164920
HP:0002015HP:0002068Neuromuscular dysphagia1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM124886342164920
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM124886342164920
HP:0002015HP:0031146Impaired oral bolus formation1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM124886342164920
HP:0002015HP:0007024Pseudobulbar paralysis1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM124886342164920
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KLHL40 CL E G H131377171430ORPHA146630372615340
HP:0002015HP:0002068Neuromuscular dysphagia1KLHL40 CL E G H131377171430ORPHA146630372615340
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KLHL40 CL E G H131377171430ORPHA146630372615340
HP:0002015HP:0031146Impaired oral bolus formation1KLHL40 CL E G H131377171430ORPHA146630372615340
HP:0002015HP:0007024Pseudobulbar paralysis1KLHL40 CL E G H131377171430ORPHA146630372615340
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM146630372615340
HP:0002015HP:0031146Impaired oral bolus formation1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM146630372615340
HP:0002015HP:0007024Pseudobulbar paralysis1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM146630372615340
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM146630372615340
HP:0002015HP:0002068Neuromuscular dysphagia1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM146630372615340
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KLHL41 CL E G H10324171430ORPHA129416905607701
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KLHL41 CL E G H10324171433ORPHA129416905607701
HP:0002015HP:0007024Pseudobulbar paralysis1KLHL41 CL E G H10324171430ORPHA129416905607701
HP:0002015HP:0031146Impaired oral bolus formation1KLHL41 CL E G H10324171433ORPHA129416905607701
HP:0002015HP:0007024Pseudobulbar paralysis1KLHL41 CL E G H10324171433ORPHA129416905607701
HP:0002015HP:0031146Impaired oral bolus formation1KLHL41 CL E G H10324171430ORPHA129416905607701
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KLHL41 CL E G H10324171430ORPHA129416905607701
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KLHL41 CL E G H10324171433ORPHA129416905607701
HP:0002015HP:0002068Neuromuscular dysphagia1KLHL41 CL E G H10324171430ORPHA129416905607701
HP:0002015HP:0002068Neuromuscular dysphagia1KLHL41 CL E G H10324171433ORPHA129416905607701
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM133715646611119
HP:0002015HP:0002068Neuromuscular dysphagia1KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM133715646611119
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM133715646611119
HP:0002015HP:0031146Impaired oral bolus formation1KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM133715646611119
HP:0002015HP:0007024Pseudobulbar paralysis1KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM133715646611119
HP:0002015HP:0002068Neuromuscular dysphagia1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0002015HP:0031146Impaired oral bolus formation1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0002015HP:0007024Pseudobulbar paralysis1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0002015HP:0200136Oral-pharyngeal dysphagia1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002015HP:0002068Neuromuscular dysphagia1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002015HP:0031162Impaired oropharyngeal swallow response1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002015HP:0007024Pseudobulbar paralysis1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002015HP:0031146Impaired oral bolus formation1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002015HP:0200136Oral-pharyngeal dysphagia1LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA13576518600024
HP:0002015HP:0002068Neuromuscular dysphagia1LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA13576518600024
HP:0002015HP:0031162Impaired oropharyngeal swallow response1LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA13576518600024
HP:0002015HP:0031146Impaired oral bolus formation1LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA13576518600024
HP:0002015HP:0007024Pseudobulbar paralysis1LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA13576518600024
HP:0002015HP:0002068Neuromuscular dysphagia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0002015HP:0031162Impaired oropharyngeal swallow response1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0002015HP:0031146Impaired oral bolus formation1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0002015HP:0007024Pseudobulbar paralysis1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0002015HP:0200136Oral-pharyngeal dysphagia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0002015HP:0031162Impaired oropharyngeal swallow response1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM17821205609791
HP:0002015HP:0031146Impaired oral bolus formation1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM17821205609791
HP:0002015HP:0007024Pseudobulbar paralysis1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM17821205609791
HP:0002015HP:0200136Oral-pharyngeal dysphagia1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM17821205609791
HP:0002015HP:0002068Neuromuscular dysphagia1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM17821205609791
HP:0002015HP:0200136Oral-pharyngeal dysphagia1LMOD3 CL E G H56203171430ORPHA13926649616112
HP:0002015HP:0002068Neuromuscular dysphagia1LMOD3 CL E G H56203171430ORPHA13926649616112
HP:0002015HP:0031162Impaired oropharyngeal swallow response1LMOD3 CL E G H56203171430ORPHA13926649616112
HP:0002015HP:0031146Impaired oral bolus formation1LMOD3 CL E G H56203171430ORPHA13926649616112
HP:0002015HP:0007024Pseudobulbar paralysis1LMOD3 CL E G H56203171430ORPHA13926649616112
HP:0002015HP:0002068Neuromuscular dysphagia1LRRK2 CL E G H120892411602ORPHA1294818618609007
HP:0002015HP:0031162Impaired oropharyngeal swallow response1LRRK2 CL E G H120892411602ORPHA1294818618609007
HP:0002015HP:0007024Pseudobulbar paralysis1LRRK2 CL E G H120892411602ORPHA1294818618609007
HP:0002015HP:0031146Impaired oral bolus formation1LRRK2 CL E G H120892411602ORPHA1294818618609007
HP:0002015HP:0200136Oral-pharyngeal dysphagia1LRRK2 CL E G H120892411602ORPHA1294818618609007
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MAP2K2 CL E G H5605638ORPHA17206842601263
HP:0002015HP:0031146Impaired oral bolus formation1MAP2K2 CL E G H5605638ORPHA17206842601263
HP:0002015HP:0007024Pseudobulbar paralysis1MAP2K2 CL E G H5605638ORPHA17206842601263
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MAP2K2 CL E G H5605638ORPHA17206842601263
HP:0002015HP:0002068Neuromuscular dysphagia1MAP2K2 CL E G H5605638ORPHA17206842601263
HP:0002015HP:0002068Neuromuscular dysphagia1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0002015HP:0031146Impaired oral bolus formation1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0002015HP:0007024Pseudobulbar paralysis1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002015HP:0002068Neuromuscular dysphagia1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002015HP:0007024Pseudobulbar paralysis1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002015HP:0031146Impaired oral bolus formation1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002015HP:0002068Neuromuscular dysphagia1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002015HP:0031146Impaired oral bolus formation1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002015HP:0007024Pseudobulbar paralysis1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002015HP:0031146Impaired oral bolus formation1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM119256990300005
HP:0002015HP:0007024Pseudobulbar paralysis1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM119256990300005
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM119256990300005
HP:0002015HP:0002068Neuromuscular dysphagia1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM119256990300005
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM119256990300005
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0002015HP:0002068Neuromuscular dysphagia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0002015HP:0031146Impaired oral bolus formation1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0002015HP:0007024Pseudobulbar paralysis1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0002015HP:0007024Pseudobulbar paralysis1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0002015HP:0031146Impaired oral bolus formation1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0002015HP:0002068Neuromuscular dysphagia1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM196929634612453
HP:0002015HP:0002068Neuromuscular dysphagia1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM196929634612453
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM196929634612453
HP:0002015HP:0031146Impaired oral bolus formation1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM196929634612453
HP:0002015HP:0007024Pseudobulbar paralysis1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM196929634612453
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0002015HP:0031146Impaired oral bolus formation1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0002015HP:0007024Pseudobulbar paralysis1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0002015HP:0002068Neuromuscular dysphagia1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0002015HP:0031146Impaired oral bolus formation1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002015HP:0007024Pseudobulbar paralysis1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002015HP:0002068Neuromuscular dysphagia1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002015HP:0031146Impaired oral bolus formation1MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM14197095300552
HP:0002015HP:0007024Pseudobulbar paralysis1MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM14197095300552
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM14197095300552
HP:0002015HP:0002068Neuromuscular dysphagia1MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM14197095300552
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM14197095300552
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MMP1 CL E G H431279408ORPHA1977155120353
HP:0002015HP:0002068Neuromuscular dysphagia1MMP1 CL E G H431279408ORPHA1977155120353
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MMP1 CL E G H431279408ORPHA1977155120353
HP:0002015HP:0031146Impaired oral bolus formation1MMP1 CL E G H431279408ORPHA1977155120353
HP:0002015HP:0007024Pseudobulbar paralysis1MMP1 CL E G H431279408ORPHA1977155120353
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002015HP:0007024Pseudobulbar paralysis1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002015HP:0031146Impaired oral bolus formation1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002015HP:0002068Neuromuscular dysphagia1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002015HP:0002068Neuromuscular dysphagia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002015HP:0031146Impaired oral bolus formation1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002015HP:0007024Pseudobulbar paralysis1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002015HP:0002068Neuromuscular dysphagia1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM141067577160760
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM141067577160760
HP:0002015HP:0031146Impaired oral bolus formation1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM141067577160760
HP:0002015HP:0007024Pseudobulbar paralysis1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM141067577160760
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM141067577160760
HP:0002015HP:0031146Impaired oral bolus formation1MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM13597578160741
HP:0002015HP:0007024Pseudobulbar paralysis1MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM13597578160741
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM13597578160741
HP:0002015HP:0002068Neuromuscular dysphagia1MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM13597578160741
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM13597578160741
HP:0002015HP:0031146Impaired oral bolus formation1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM18633778615345
HP:0002015HP:0007024Pseudobulbar paralysis1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM18633778615345
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM18633778615345
HP:0002015HP:0002068Neuromuscular dysphagia1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM18633778615345
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM18633778615345
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MYO9A CL E G H464998914ORPHA12807608604875
HP:0002015HP:0002068Neuromuscular dysphagia1MYO9A CL E G H464998914ORPHA12807608604875
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MYO9A CL E G H464998914ORPHA12807608604875
HP:0002015HP:0031146Impaired oral bolus formation1MYO9A CL E G H464998914ORPHA12807608604875
HP:0002015HP:0007024Pseudobulbar paralysis1MYO9A CL E G H464998914ORPHA12807608604875
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0002015HP:0031146Impaired oral bolus formation1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0002015HP:0007024Pseudobulbar paralysis1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0002015HP:0002068Neuromuscular dysphagia1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM12807608604875
HP:0002015HP:0031146Impaired oral bolus formation1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002015HP:0007024Pseudobulbar paralysis1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002015HP:0002068Neuromuscular dysphagia1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0002015HP:0002068Neuromuscular dysphagia1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0002015HP:0031146Impaired oral bolus formation1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0002015HP:0007024Pseudobulbar paralysis1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0002015HP:0031146Impaired oral bolus formation1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0002015HP:0007024Pseudobulbar paralysis1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0002015HP:0002068Neuromuscular dysphagia1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM113228086609653
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0002015HP:0002068Neuromuscular dysphagia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0002015HP:0031146Impaired oral bolus formation1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0002015HP:0007024Pseudobulbar paralysis1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NEB CL E G H4703171430ORPHA185307720161650
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NEB CL E G H4703171433ORPHA185307720161650
HP:0002015HP:0031146Impaired oral bolus formation1NEB CL E G H4703171430ORPHA185307720161650
HP:0002015HP:0002068Neuromuscular dysphagia1NEB CL E G H4703171433ORPHA185307720161650
HP:0002015HP:0007024Pseudobulbar paralysis1NEB CL E G H4703171430ORPHA185307720161650
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NEB CL E G H4703171433ORPHA185307720161650
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NEB CL E G H4703171430ORPHA185307720161650
HP:0002015HP:0031146Impaired oral bolus formation1NEB CL E G H4703171433ORPHA185307720161650
HP:0002015HP:0002068Neuromuscular dysphagia1NEB CL E G H4703171430ORPHA185307720161650
HP:0002015HP:0007024Pseudobulbar paralysis1NEB CL E G H4703171433ORPHA185307720161650
HP:0002015HP:0002068Neuromuscular dysphagia1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM185307720161650
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM185307720161650
HP:0002015HP:0031146Impaired oral bolus formation1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM185307720161650
HP:0002015HP:0007024Pseudobulbar paralysis1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM185307720161650
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM185307720161650
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NF1 CL E G H4763638ORPHA1123927765613113
HP:0002015HP:0002068Neuromuscular dysphagia1NF1 CL E G H4763638ORPHA1123927765613113
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NF1 CL E G H4763638ORPHA1123927765613113
HP:0002015HP:0031146Impaired oral bolus formation1NF1 CL E G H4763638ORPHA1123927765613113
HP:0002015HP:0007024Pseudobulbar paralysis1NF1 CL E G H4763638ORPHA1123927765613113
HP:0002015HP:0007024Pseudobulbar paralysis1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0002015HP:0031146Impaired oral bolus formation1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0002015HP:0002068Neuromuscular dysphagia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0002015HP:0002068Neuromuscular dysphagia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0002015HP:0007024Pseudobulbar paralysis1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0002015HP:0031146Impaired oral bolus formation1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0002015HP:0002068Neuromuscular dysphagia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0002015HP:0031146Impaired oral bolus formation1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0002015HP:0007024Pseudobulbar paralysis1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0002015HP:0031146Impaired oral bolus formation1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0002015HP:0007024Pseudobulbar paralysis1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0002015HP:0002068Neuromuscular dysphagia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0002015HP:0007024Pseudobulbar paralysis1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0002015HP:0031146Impaired oral bolus formation1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0002015HP:0002068Neuromuscular dysphagia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0002015HP:0031162Impaired oropharyngeal swallow response1OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM142817142602432
HP:0002015HP:0031146Impaired oral bolus formation1OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM142817142602432
HP:0002015HP:0007024Pseudobulbar paralysis1OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM142817142602432
HP:0002015HP:0200136Oral-pharyngeal dysphagia1OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM142817142602432
HP:0002015HP:0002068Neuromuscular dysphagia1OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM142817142602432
HP:0002015HP:0031146Impaired oral bolus formation1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002015HP:0007024Pseudobulbar paralysis1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002015HP:0002068Neuromuscular dysphagia1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0002015HP:0002068Neuromuscular dysphagia1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0002015HP:0031146Impaired oral bolus formation1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0002015HP:0007024Pseudobulbar paralysis1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0002015HP:0002068Neuromuscular dysphagia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0002015HP:0031146Impaired oral bolus formation1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0002015HP:0007024Pseudobulbar paralysis1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0002015HP:0002068Neuromuscular dysphagia1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0002015HP:0031146Impaired oral bolus formation1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0002015HP:0007024Pseudobulbar paralysis1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1488729176740
HP:0002015HP:0002068Neuromuscular dysphagia1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1488729176740
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1488729176740
HP:0002015HP:0031146Impaired oral bolus formation1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1488729176740
HP:0002015HP:0007024Pseudobulbar paralysis1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1488729176740
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA12438794603390
HP:0002015HP:0002068Neuromuscular dysphagia1PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA12438794603390
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA12438794603390
HP:0002015HP:0031146Impaired oral bolus formation1PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA12438794603390
HP:0002015HP:0007024Pseudobulbar paralysis1PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA12438794603390
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002015HP:0002068Neuromuscular dysphagia1PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002015HP:0007024Pseudobulbar paralysis1PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002015HP:0031146Impaired oral bolus formation1PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM128328803173490
HP:0002015HP:0007024Pseudobulbar paralysis1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM128328803173490
HP:0002015HP:0031146Impaired oral bolus formation1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM128328803173490
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM128328803173490
HP:0002015HP:0002068Neuromuscular dysphagia1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM128328803173490
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0002015HP:0031146Impaired oral bolus formation1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0002015HP:0007024Pseudobulbar paralysis1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0002015HP:0002068Neuromuscular dysphagia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0002015HP:0002068Neuromuscular dysphagia1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0002015HP:0031146Impaired oral bolus formation1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0002015HP:0007024Pseudobulbar paralysis1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0002015HP:0031146Impaired oral bolus formation1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0002015HP:0007024Pseudobulbar paralysis1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0002015HP:0002068Neuromuscular dysphagia1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0002015HP:0002068Neuromuscular dysphagia1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0002015HP:0007024Pseudobulbar paralysis1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0002015HP:0031146Impaired oral bolus formation1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0002015HP:0031146Impaired oral bolus formation1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0002015HP:0007024Pseudobulbar paralysis1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0002015HP:0002068Neuromuscular dysphagia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0002015HP:0002068Neuromuscular dysphagia1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0002015HP:0007024Pseudobulbar paralysis1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0002015HP:0031146Impaired oral bolus formation1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PLEC CL E G H5339158684ORPHA150689069601282
HP:0002015HP:0002068Neuromuscular dysphagia1PLEC CL E G H5339158684ORPHA150689069601282
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PLEC CL E G H5339158684ORPHA150689069601282
HP:0002015HP:0031146Impaired oral bolus formation1PLEC CL E G H5339158684ORPHA150689069601282
HP:0002015HP:0007024Pseudobulbar paralysis1PLEC CL E G H5339158684ORPHA150689069601282
HP:0002015HP:0031146Impaired oral bolus formation1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0002015HP:0007024Pseudobulbar paralysis1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0002015HP:0002068Neuromuscular dysphagia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0002015HP:0002068Neuromuscular dysphagia1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0002015HP:0031146Impaired oral bolus formation1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0002015HP:0007024Pseudobulbar paralysis1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0002015HP:0031146Impaired oral bolus formation1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM15219153609023
HP:0002015HP:0007024Pseudobulbar paralysis1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM15219153609023
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM15219153609023
HP:0002015HP:0002068Neuromuscular dysphagia1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM15219153609023
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM15219153609023
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLG CL E G H5428254886ORPHA123249179174763
HP:0002015HP:0007024Pseudobulbar paralysis1POLG CL E G H5428254886ORPHA123249179174763
HP:0002015HP:0031146Impaired oral bolus formation1POLG CL E G H5428254886ORPHA123249179174763
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLG CL E G H5428254886ORPHA123249179174763
HP:0002015HP:0002068Neuromuscular dysphagia1POLG CL E G H5428254886ORPHA123249179174763
HP:0002015HP:0002068Neuromuscular dysphagia1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0002015HP:0031146Impaired oral bolus formation1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0002015HP:0007024Pseudobulbar paralysis1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0002015HP:0002068Neuromuscular dysphagia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002015HP:0031146Impaired oral bolus formation1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002015HP:0007024Pseudobulbar paralysis1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002015HP:0031146Impaired oral bolus formation1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002015HP:0007024Pseudobulbar paralysis1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002015HP:0002068Neuromuscular dysphagia1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA123249179174763
HP:0002015HP:0031146Impaired oral bolus formation1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA123249179174763
HP:0002015HP:0007024Pseudobulbar paralysis1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA123249179174763
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA123249179174763
HP:0002015HP:0002068Neuromuscular dysphagia1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA123249179174763
HP:0002015HP:0002068Neuromuscular dysphagia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002015HP:0031146Impaired oral bolus formation1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002015HP:0007024Pseudobulbar paralysis1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0002015HP:0031146Impaired oral bolus formation1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0002015HP:0007024Pseudobulbar paralysis1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0002015HP:0002068Neuromuscular dysphagia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0002015HP:0031146Impaired oral bolus formation1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM1102530074614258
HP:0002015HP:0007024Pseudobulbar paralysis1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM1102530074614258
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM1102530074614258
HP:0002015HP:0002068Neuromuscular dysphagia1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM1102530074614258
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM1102530074614258
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0002015HP:0002068Neuromuscular dysphagia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0002015HP:0031146Impaired oral bolus formation1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0002015HP:0007024Pseudobulbar paralysis1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0002015HP:0031146Impaired oral bolus formation1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0002015HP:0007024Pseudobulbar paralysis1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0002015HP:0002068Neuromuscular dysphagia1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0002015HP:0007024Pseudobulbar paralysis1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0002015HP:0031146Impaired oral bolus formation1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0002015HP:0002068Neuromuscular dysphagia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0002015HP:0031146Impaired oral bolus formation1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0002015HP:0007024Pseudobulbar paralysis1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0002015HP:0002068Neuromuscular dysphagia1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002015HP:0002068Neuromuscular dysphagia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002015HP:0031146Impaired oral bolus formation1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002015HP:0007024Pseudobulbar paralysis1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002015HP:0031146Impaired oral bolus formation1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0002015HP:0007024Pseudobulbar paralysis1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0002015HP:0002068Neuromuscular dysphagia1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0002015HP:0031146Impaired oral bolus formation1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0002015HP:0007024Pseudobulbar paralysis1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0002015HP:0002068Neuromuscular dysphagia1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM14159462311850
HP:0002015HP:0002068Neuromuscular dysphagia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0002015HP:0031146Impaired oral bolus formation1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0002015HP:0007024Pseudobulbar paralysis1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002015HP:0002068Neuromuscular dysphagia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002015HP:0031146Impaired oral bolus formation1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002015HP:0007024Pseudobulbar paralysis1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002015HP:0002068Neuromuscular dysphagia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0002015HP:0007024Pseudobulbar paralysis1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0002015HP:0031146Impaired oral bolus formation1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM158226162617220
HP:0002015HP:0031146Impaired oral bolus formation1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM158226162617220
HP:0002015HP:0007024Pseudobulbar paralysis1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM158226162617220
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM158226162617220
HP:0002015HP:0002068Neuromuscular dysphagia1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM158226162617220
HP:0002015HP:0200136Oral-pharyngeal dysphagia1QDPR CL E G H5860226ORPHA13199752612676
HP:0002015HP:0002068Neuromuscular dysphagia1QDPR CL E G H5860226ORPHA13199752612676
HP:0002015HP:0031162Impaired oropharyngeal swallow response1QDPR CL E G H5860226ORPHA13199752612676
HP:0002015HP:0031146Impaired oral bolus formation1QDPR CL E G H5860226ORPHA13199752612676
HP:0002015HP:0007024Pseudobulbar paralysis1QDPR CL E G H5860226ORPHA13199752612676
HP:0002015HP:0031146Impaired oral bolus formation1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0002015HP:0007024Pseudobulbar paralysis1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0002015HP:0200136Oral-pharyngeal dysphagia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0002015HP:0002068Neuromuscular dysphagia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0002015HP:0031162Impaired oropharyngeal swallow response1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RERE CL E G H4731606ORPHA16599965605226
HP:0002015HP:0002068Neuromuscular dysphagia1RERE CL E G H4731606ORPHA16599965605226
HP:0002015HP:0031162Impaired oropharyngeal swallow response1RERE CL E G H4731606ORPHA16599965605226
HP:0002015HP:0031146Impaired oral bolus formation1RERE CL E G H4731606ORPHA16599965605226
HP:0002015HP:0007024Pseudobulbar paralysis1RERE CL E G H4731606ORPHA16599965605226
HP:0002015HP:0031162Impaired oropharyngeal swallow response1REV3L CL E G H5980570ORPHA12129968602776
HP:0002015HP:0031146Impaired oral bolus formation1REV3L CL E G H5980570ORPHA12129968602776
HP:0002015HP:0007024Pseudobulbar paralysis1REV3L CL E G H5980570ORPHA12129968602776
HP:0002015HP:0200136Oral-pharyngeal dysphagia1REV3L CL E G H5980570ORPHA12129968602776
HP:0002015HP:0002068Neuromuscular dysphagia1REV3L CL E G H5980570ORPHA12129968602776
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002015HP:0002068Neuromuscular dysphagia1RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002015HP:0031162Impaired oropharyngeal swallow response1RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002015HP:0031146Impaired oral bolus formation1RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002015HP:0007024Pseudobulbar paralysis1RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002015HP:0002068Neuromuscular dysphagia1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0002015HP:0031162Impaired oropharyngeal swallow response1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0002015HP:0031146Impaired oral bolus formation1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0002015HP:0007024Pseudobulbar paralysis1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0002015HP:0007024Pseudobulbar paralysis1RNASEH1 CL E G H246243329336ORPHA118918466604123
HP:0002015HP:0031146Impaired oral bolus formation1RNASEH1 CL E G H246243329336ORPHA118918466604123
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RNASEH1 CL E G H246243329336ORPHA118918466604123
HP:0002015HP:0002068Neuromuscular dysphagia1RNASEH1 CL E G H246243329336ORPHA118918466604123
HP:0002015HP:0031162Impaired oropharyngeal swallow response1RNASEH1 CL E G H246243329336ORPHA118918466604123
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM118918466604123
HP:0002015HP:0002068Neuromuscular dysphagia1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM118918466604123
HP:0002015HP:0031162Impaired oropharyngeal swallow response1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM118918466604123
HP:0002015HP:0031146Impaired oral bolus formation1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM118918466604123
HP:0002015HP:0007024Pseudobulbar paralysis1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM118918466604123
HP:0002015HP:0002068Neuromuscular dysphagia1RRM2B CL E G H50484329336ORPHA135417296604712
HP:0002015HP:0031162Impaired oropharyngeal swallow response1RRM2B CL E G H50484329336ORPHA135417296604712
HP:0002015HP:0031146Impaired oral bolus formation1RRM2B CL E G H50484329336ORPHA135417296604712
HP:0002015HP:0007024Pseudobulbar paralysis1RRM2B CL E G H50484329336ORPHA135417296604712
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RRM2B CL E G H50484329336ORPHA135417296604712
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002015HP:0002068Neuromuscular dysphagia1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002015HP:0031162Impaired oropharyngeal swallow response1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002015HP:0007024Pseudobulbar paralysis1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002015HP:0031146Impaired oral bolus formation1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002015HP:0007024Pseudobulbar paralysis1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1616410483180901
HP:0002015HP:0031146Impaired oral bolus formation1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1616410483180901
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1616410483180901
HP:0002015HP:0002068Neuromuscular dysphagia1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1616410483180901
HP:0002015HP:0031162Impaired oropharyngeal swallow response1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1616410483180901
HP:0002015HP:0002068Neuromuscular dysphagia1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0002015HP:0031146Impaired oral bolus formation1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0002015HP:0007024Pseudobulbar paralysis1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM1142010590182391
HP:0002015HP:0002068Neuromuscular dysphagia1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM1142010590182391
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM1142010590182391
HP:0002015HP:0031146Impaired oral bolus formation1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM1142010590182391
HP:0002015HP:0007024Pseudobulbar paralysis1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM1142010590182391
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SCN4A CL E G H6329684ORPHA1176510591603967
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SCN4A CL E G H632999734ORPHA1176510591603967
HP:0002015HP:0007024Pseudobulbar paralysis1SCN4A CL E G H6329684ORPHA1176510591603967
HP:0002015HP:0031146Impaired oral bolus formation1SCN4A CL E G H6329684ORPHA1176510591603967
HP:0002015HP:0007024Pseudobulbar paralysis1SCN4A CL E G H632999734ORPHA1176510591603967
HP:0002015HP:0031146Impaired oral bolus formation1SCN4A CL E G H632999734ORPHA1176510591603967
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SCN4A CL E G H6329684ORPHA1176510591603967
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SCN4A CL E G H632999734ORPHA1176510591603967
HP:0002015HP:0002068Neuromuscular dysphagia1SCN4A CL E G H6329684ORPHA1176510591603967
HP:0002015HP:0002068Neuromuscular dysphagia1SCN4A CL E G H632999734ORPHA1176510591603967
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SDHA CL E G H638944890ORPHA1250310680600857
HP:0002015HP:0031146Impaired oral bolus formation1SDHA CL E G H638944890ORPHA1250310680600857
HP:0002015HP:0007024Pseudobulbar paralysis1SDHA CL E G H638944890ORPHA1250310680600857
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SDHA CL E G H638944890ORPHA1250310680600857
HP:0002015HP:0002068Neuromuscular dysphagia1SDHA CL E G H638944890ORPHA1250310680600857
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SDHB CL E G H639097286ORPHA1124910681185470
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SDHB CL E G H639044890ORPHA1124910681185470
HP:0002015HP:0031146Impaired oral bolus formation1SDHB CL E G H639097286ORPHA1124910681185470
HP:0002015HP:0007024Pseudobulbar paralysis1SDHB CL E G H639097286ORPHA1124910681185470
HP:0002015HP:0002068Neuromuscular dysphagia1SDHB CL E G H639044890ORPHA1124910681185470
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SDHB CL E G H639097286ORPHA1124910681185470
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SDHB CL E G H639044890ORPHA1124910681185470
HP:0002015HP:0002068Neuromuscular dysphagia1SDHB CL E G H639097286ORPHA1124910681185470
HP:0002015HP:0031146Impaired oral bolus formation1SDHB CL E G H639044890ORPHA1124910681185470
HP:0002015HP:0007024Pseudobulbar paralysis1SDHB CL E G H639044890ORPHA1124910681185470
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM1124910681185470
HP:0002015HP:0002068Neuromuscular dysphagia1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM1124910681185470
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM1124910681185470
HP:0002015HP:0031146Impaired oral bolus formation1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM1124910681185470
HP:0002015HP:0007024Pseudobulbar paralysis1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM1124910681185470
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SDHC CL E G H639197286ORPHA179810682602413
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SDHC CL E G H639144890ORPHA179810682602413
HP:0002015HP:0007024Pseudobulbar paralysis1SDHC CL E G H639144890ORPHA179810682602413
HP:0002015HP:0002068Neuromuscular dysphagia1SDHC CL E G H639197286ORPHA179810682602413
HP:0002015HP:0031146Impaired oral bolus formation1SDHC CL E G H639144890ORPHA179810682602413
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SDHC CL E G H639144890ORPHA179810682602413
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SDHC CL E G H639197286ORPHA179810682602413
HP:0002015HP:0031146Impaired oral bolus formation1SDHC CL E G H639197286ORPHA179810682602413
HP:0002015HP:0007024Pseudobulbar paralysis1SDHC CL E G H639197286ORPHA179810682602413
HP:0002015HP:0002068Neuromuscular dysphagia1SDHC CL E G H639144890ORPHA179810682602413
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM179810682602413
HP:0002015HP:0031146Impaired oral bolus formation1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM179810682602413
HP:0002015HP:0007024Pseudobulbar paralysis1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM179810682602413
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM179810682602413
HP:0002015HP:0002068Neuromuscular dysphagia1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM179810682602413
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SDHD CL E G H639297286ORPHA168610683602690
HP:0002015HP:0031146Impaired oral bolus formation1SDHD CL E G H639297286ORPHA168610683602690
HP:0002015HP:0007024Pseudobulbar paralysis1SDHD CL E G H639297286ORPHA168610683602690
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SDHD CL E G H639297286ORPHA168610683602690
HP:0002015HP:0002068Neuromuscular dysphagia1SDHD CL E G H639297286ORPHA168610683602690
HP:0002015HP:0002068Neuromuscular dysphagia1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM165115999606210
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM165115999606210
HP:0002015HP:0031146Impaired oral bolus formation1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM165115999606210
HP:0002015HP:0007024Pseudobulbar paralysis1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM165115999606210
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM165115999606210
HP:0002015HP:0031146Impaired oral bolus formation1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM159410727608166
HP:0002015HP:0007024Pseudobulbar paralysis1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM159410727608166
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM159410727608166
HP:0002015HP:0002068Neuromuscular dysphagia1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM159410727608166
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM159410727608166
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SERPING1 CL E G H710100050ORPHA14581228606860
HP:0002015HP:0031146Impaired oral bolus formation1SERPING1 CL E G H710100050ORPHA14581228606860
HP:0002015HP:0007024Pseudobulbar paralysis1SERPING1 CL E G H710100050ORPHA14581228606860
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SERPING1 CL E G H710100050ORPHA14581228606860
HP:0002015HP:0002068Neuromuscular dysphagia1SERPING1 CL E G H710100050ORPHA14581228606860
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0002015HP:0002068Neuromuscular dysphagia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0002015HP:0031146Impaired oral bolus formation1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0002015HP:0007024Pseudobulbar paralysis1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SKI CL E G H64971606ORPHA1106210896164780
HP:0002015HP:0031146Impaired oral bolus formation1SKI CL E G H64971606ORPHA1106210896164780
HP:0002015HP:0007024Pseudobulbar paralysis1SKI CL E G H64971606ORPHA1106210896164780
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SKI CL E G H64971606ORPHA1106210896164780
HP:0002015HP:0002068Neuromuscular dysphagia1SKI CL E G H64971606ORPHA1106210896164780
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC18A3 CL E G H657298914ORPHA130510936600336
HP:0002015HP:0031146Impaired oral bolus formation1SLC18A3 CL E G H657298914ORPHA130510936600336
HP:0002015HP:0007024Pseudobulbar paralysis1SLC18A3 CL E G H657298914ORPHA130510936600336
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC18A3 CL E G H657298914ORPHA130510936600336
HP:0002015HP:0002068Neuromuscular dysphagia1SLC18A3 CL E G H657298914ORPHA130510936600336
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002015HP:0031146Impaired oral bolus formation1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002015HP:0007024Pseudobulbar paralysis1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002015HP:0002068Neuromuscular dysphagia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC25A1 CL E G H657698914ORPHA156810979190315
HP:0002015HP:0002068Neuromuscular dysphagia1SLC25A1 CL E G H657698914ORPHA156810979190315
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC25A1 CL E G H657698914ORPHA156810979190315
HP:0002015HP:0007024Pseudobulbar paralysis1SLC25A1 CL E G H657698914ORPHA156810979190315
HP:0002015HP:0031146Impaired oral bolus formation1SLC25A1 CL E G H657698914ORPHA156810979190315
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0002015HP:0031146Impaired oral bolus formation1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0002015HP:0007024Pseudobulbar paralysis1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0002015HP:0002068Neuromuscular dysphagia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0002015HP:0031146Impaired oral bolus formation1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0002015HP:0007024Pseudobulbar paralysis1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0002015HP:0002068Neuromuscular dysphagia1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0002015HP:0002068Neuromuscular dysphagia1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0002015HP:0031146Impaired oral bolus formation1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0002015HP:0007024Pseudobulbar paralysis1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0002015HP:0031146Impaired oral bolus formation1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0002015HP:0007024Pseudobulbar paralysis1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0002015HP:0002068Neuromuscular dysphagia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0002015HP:0002068Neuromuscular dysphagia1SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM146416187613350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM146416187613350
HP:0002015HP:0031146Impaired oral bolus formation1SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM146416187613350
HP:0002015HP:0007024Pseudobulbar paralysis1SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM146416187613350
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM146416187613350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC5A7 CL E G H6048298914ORPHA145514025608761
HP:0002015HP:0031146Impaired oral bolus formation1SLC5A7 CL E G H6048298914ORPHA145514025608761
HP:0002015HP:0007024Pseudobulbar paralysis1SLC5A7 CL E G H6048298914ORPHA145514025608761
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC5A7 CL E G H6048298914ORPHA145514025608761
HP:0002015HP:0002068Neuromuscular dysphagia1SLC5A7 CL E G H6048298914ORPHA145514025608761
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM145514025608761
HP:0002015HP:0002068Neuromuscular dysphagia1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM145514025608761
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM145514025608761
HP:0002015HP:0007024Pseudobulbar paralysis1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM145514025608761
HP:0002015HP:0031146Impaired oral bolus formation1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM145514025608761
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0002015HP:0007024Pseudobulbar paralysis1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0002015HP:0031146Impaired oral bolus formation1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0002015HP:0002068Neuromuscular dysphagia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0002015HP:0002068Neuromuscular dysphagia1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0002015HP:0007024Pseudobulbar paralysis1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0002015HP:0031146Impaired oral bolus formation1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0002015HP:0002068Neuromuscular dysphagia1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM161211079300231
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM161211079300231
HP:0002015HP:0031146Impaired oral bolus formation1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM161211079300231
HP:0002015HP:0007024Pseudobulbar paralysis1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM161211079300231
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM161211079300231
HP:0002015HP:0031146Impaired oral bolus formation1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0002015HP:0007024Pseudobulbar paralysis1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0002015HP:0002068Neuromuscular dysphagia1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SNAP25 CL E G H661698914ORPHA121811132600322
HP:0002015HP:0002068Neuromuscular dysphagia1SNAP25 CL E G H661698914ORPHA121811132600322
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SNAP25 CL E G H661698914ORPHA121811132600322
HP:0002015HP:0031146Impaired oral bolus formation1SNAP25 CL E G H661698914ORPHA121811132600322
HP:0002015HP:0007024Pseudobulbar paralysis1SNAP25 CL E G H661698914ORPHA121811132600322
HP:0002015HP:0031146Impaired oral bolus formation1SNCA CL E G H6622411602ORPHA119311138163890
HP:0002015HP:0007024Pseudobulbar paralysis1SNCA CL E G H6622411602ORPHA119311138163890
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SNCA CL E G H6622171695ORPHA119311138163890
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SNCA CL E G H6622411602ORPHA119311138163890
HP:0002015HP:0031146Impaired oral bolus formation1SNCA CL E G H6622171695ORPHA119311138163890
HP:0002015HP:0007024Pseudobulbar paralysis1SNCA CL E G H6622171695ORPHA119311138163890
HP:0002015HP:0002068Neuromuscular dysphagia1SNCA CL E G H6622411602ORPHA119311138163890
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SNCA CL E G H6622411602ORPHA119311138163890
HP:0002015HP:0002068Neuromuscular dysphagia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0002015HP:0002068Neuromuscular dysphagia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0002015HP:0031146Impaired oral bolus formation1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0002015HP:0007024Pseudobulbar paralysis1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0002015HP:0007024Pseudobulbar paralysis1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0002015HP:0031146Impaired oral bolus formation1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0002015HP:0002068Neuromuscular dysphagia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SPART CL E G H23111101000ORPHA135318514607111
HP:0002015HP:0031146Impaired oral bolus formation1SPART CL E G H23111101000ORPHA135318514607111
HP:0002015HP:0007024Pseudobulbar paralysis1SPART CL E G H23111101000ORPHA135318514607111
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SPART CL E G H23111101000ORPHA135318514607111
HP:0002015HP:0002068Neuromuscular dysphagia1SPART CL E G H23111101000ORPHA135318514607111
HP:0002015HP:0002068Neuromuscular dysphagia1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0002015HP:0031146Impaired oral bolus formation1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0002015HP:0007024Pseudobulbar paralysis1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0002015HP:0002068Neuromuscular dysphagia1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0002015HP:0031146Impaired oral bolus formation1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0002015HP:0007024Pseudobulbar paralysis1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0002015HP:0002068Neuromuscular dysphagia1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0002015HP:0031146Impaired oral bolus formation1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0002015HP:0007024Pseudobulbar paralysis1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SPG7 CL E G H668735689ORPHA196611237602783
HP:0002015HP:0002068Neuromuscular dysphagia1SPG7 CL E G H668735689ORPHA196611237602783
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SPG7 CL E G H668735689ORPHA196611237602783
HP:0002015HP:0031146Impaired oral bolus formation1SPG7 CL E G H668735689ORPHA196611237602783
HP:0002015HP:0007024Pseudobulbar paralysis1SPG7 CL E G H668735689ORPHA196611237602783
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0002015HP:0007024Pseudobulbar paralysis1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0002015HP:0031146Impaired oral bolus formation1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0002015HP:0002068Neuromuscular dysphagia1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0002015HP:0002068Neuromuscular dysphagia1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002015HP:0007024Pseudobulbar paralysis1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002015HP:0031146Impaired oral bolus formation1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0002015HP:0002068Neuromuscular dysphagia1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0002015HP:0007024Pseudobulbar paralysis1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0002015HP:0031146Impaired oral bolus formation1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0002015HP:0031146Impaired oral bolus formation1SYT14 CL E G H255928284271ORPHA110423143610949
HP:0002015HP:0007024Pseudobulbar paralysis1SYT14 CL E G H255928284271ORPHA110423143610949
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SYT14 CL E G H255928284271ORPHA110423143610949
HP:0002015HP:0002068Neuromuscular dysphagia1SYT14 CL E G H255928284271ORPHA110423143610949
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SYT14 CL E G H255928284271ORPHA110423143610949
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SYT2 CL E G H12783398914ORPHA123211510600104
HP:0002015HP:0007024Pseudobulbar paralysis1SYT2 CL E G H12783398914ORPHA123211510600104
HP:0002015HP:0031146Impaired oral bolus formation1SYT2 CL E G H12783398914ORPHA123211510600104
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SYT2 CL E G H12783398914ORPHA123211510600104
HP:0002015HP:0002068Neuromuscular dysphagia1SYT2 CL E G H12783398914ORPHA123211510600104
HP:0002015HP:0031146Impaired oral bolus formation1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002015HP:0007024Pseudobulbar paralysis1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002015HP:0002068Neuromuscular dysphagia1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0002015HP:0007024Pseudobulbar paralysis1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0002015HP:0031146Impaired oral bolus formation1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0002015HP:0002068Neuromuscular dysphagia1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0002015HP:0002068Neuromuscular dysphagia1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002015HP:0031146Impaired oral bolus formation1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002015HP:0007024Pseudobulbar paralysis1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0002015HP:0031146Impaired oral bolus formation1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0002015HP:0007024Pseudobulbar paralysis1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0002015HP:0002068Neuromuscular dysphagia1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0002015HP:0002068Neuromuscular dysphagia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0002015HP:0007024Pseudobulbar paralysis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0002015HP:0031146Impaired oral bolus formation1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0002015HP:0031146Impaired oral bolus formation1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0002015HP:0007024Pseudobulbar paralysis1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0002015HP:0002068Neuromuscular dysphagia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TK2 CL E G H7084254886ORPHA144211831188250
HP:0002015HP:0002068Neuromuscular dysphagia1TK2 CL E G H7084254886ORPHA144211831188250
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TK2 CL E G H7084254886ORPHA144211831188250
HP:0002015HP:0031146Impaired oral bolus formation1TK2 CL E G H7084254886ORPHA144211831188250
HP:0002015HP:0007024Pseudobulbar paralysis1TK2 CL E G H7084254886ORPHA144211831188250
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM144211831188250
HP:0002015HP:0007024Pseudobulbar paralysis1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM144211831188250
HP:0002015HP:0031146Impaired oral bolus formation1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM144211831188250
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM144211831188250
HP:0002015HP:0002068Neuromuscular dysphagia1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM144211831188250
HP:0002015HP:0031146Impaired oral bolus formation1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134112011190990
HP:0002015HP:0007024Pseudobulbar paralysis1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134112011190990
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134112011190990
HP:0002015HP:0002068Neuromuscular dysphagia1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134112011190990
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134112011190990
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TPM3 CL E G H7170171433ORPHA134312012191030
HP:0002015HP:0007024Pseudobulbar paralysis1TPM3 CL E G H7170171433ORPHA134312012191030
HP:0002015HP:0031146Impaired oral bolus formation1TPM3 CL E G H7170171433ORPHA134312012191030
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TPM3 CL E G H7170171433ORPHA134312012191030
HP:0002015HP:0002068Neuromuscular dysphagia1TPM3 CL E G H7170171433ORPHA134312012191030
HP:0002015HP:0002068Neuromuscular dysphagia1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134312012191030
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134312012191030
HP:0002015HP:0007024Pseudobulbar paralysis1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134312012191030
HP:0002015HP:0031146Impaired oral bolus formation1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134312012191030
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM134312012191030
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM134312012191030
HP:0002015HP:0031146Impaired oral bolus formation1TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM134312012191030
HP:0002015HP:0007024Pseudobulbar paralysis1TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM134312012191030
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM134312012191030
HP:0002015HP:0002068Neuromuscular dysphagia1TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM134312012191030
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0002015HP:0031146Impaired oral bolus formation1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0002015HP:0007024Pseudobulbar paralysis1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0002015HP:0002068Neuromuscular dysphagia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TTBK2 CL E G H14605798767ORPHA133819141611695
HP:0002015HP:0002068Neuromuscular dysphagia1TTBK2 CL E G H14605798767ORPHA133819141611695
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TTBK2 CL E G H14605798767ORPHA133819141611695
HP:0002015HP:0031146Impaired oral bolus formation1TTBK2 CL E G H14605798767ORPHA133819141611695
HP:0002015HP:0007024Pseudobulbar paralysis1TTBK2 CL E G H14605798767ORPHA133819141611695
HP:0002015HP:0002068Neuromuscular dysphagia1TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM127220774602662
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM127220774602662
HP:0002015HP:0031146Impaired oral bolus formation1TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM127220774602662
HP:0002015HP:0007024Pseudobulbar paralysis1TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM127220774602662
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM127220774602662
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM14501160606075
HP:0002015HP:0002068Neuromuscular dysphagia1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM14501160606075
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM14501160606075
HP:0002015HP:0031146Impaired oral bolus formation1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM14501160606075
HP:0002015HP:0007024Pseudobulbar paralysis1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM14501160606075
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002015HP:0031146Impaired oral bolus formation1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002015HP:0007024Pseudobulbar paralysis1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002015HP:0002068Neuromuscular dysphagia1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002015HP:0031146Impaired oral bolus formation1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0002015HP:0007024Pseudobulbar paralysis1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0002015HP:0200136Oral-pharyngeal dysphagia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0002015HP:0002068Neuromuscular dysphagia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0002015HP:0031162Impaired oropharyngeal swallow response1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0002015HP:0200136Oral-pharyngeal dysphagia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0002015HP:0002068Neuromuscular dysphagia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0002015HP:0031162Impaired oropharyngeal swallow response1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0002015HP:0031146Impaired oral bolus formation1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0002015HP:0007024Pseudobulbar paralysis1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0002015HP:0031162Impaired oropharyngeal swallow response1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0002015HP:0031146Impaired oral bolus formation1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0002015HP:0007024Pseudobulbar paralysis1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0002015HP:0200136Oral-pharyngeal dysphagia1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0002015HP:0002068Neuromuscular dysphagia1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0002015HP:0200136Oral-pharyngeal dysphagia1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0002015HP:0200136Oral-pharyngeal dysphagia1VAMP1 CL E G H684398914ORPHA114112642185880
HP:0002015HP:0002068Neuromuscular dysphagia1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0002015HP:0002068Neuromuscular dysphagia1VAMP1 CL E G H684398914ORPHA114112642185880
HP:0002015HP:0031162Impaired oropharyngeal swallow response1VAMP1 CL E G H684398914ORPHA114112642185880
HP:0002015HP:0031162Impaired oropharyngeal swallow response1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0002015HP:0007024Pseudobulbar paralysis1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0002015HP:0031146Impaired oral bolus formation1VAMP1 CL E G H684398914ORPHA114112642185880
HP:0002015HP:0007024Pseudobulbar paralysis1VAMP1 CL E G H684398914ORPHA114112642185880
HP:0002015HP:0031146Impaired oral bolus formation1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0002015HP:0031146Impaired oral bolus formation1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0002015HP:0007024Pseudobulbar paralysis1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0002015HP:0200136Oral-pharyngeal dysphagia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0002015HP:0002068Neuromuscular dysphagia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0002015HP:0031162Impaired oropharyngeal swallow response1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0002015HP:0031146Impaired oral bolus formation1VCP CL E G H7415275872ORPHA160712666601023
HP:0002015HP:0007024Pseudobulbar paralysis1VCP CL E G H7415275872ORPHA160712666601023
HP:0002015HP:0200136Oral-pharyngeal dysphagia1VCP CL E G H7415275872ORPHA160712666601023
HP:0002015HP:0002068Neuromuscular dysphagia1VCP CL E G H7415275872ORPHA160712666601023
HP:0002015HP:0031162Impaired oropharyngeal swallow response1VCP CL E G H7415275872ORPHA160712666601023
HP:0002015HP:0002068Neuromuscular dysphagia1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0002015HP:0031162Impaired oropharyngeal swallow response1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0002015HP:0031146Impaired oral bolus formation1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0002015HP:0007024Pseudobulbar paralysis1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0002015HP:0200136Oral-pharyngeal dysphagia1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0002015HP:0002068Neuromuscular dysphagia1VPS35 CL E G H55737411602ORPHA122813487601501
HP:0002015HP:0031162Impaired oropharyngeal swallow response1VPS35 CL E G H55737411602ORPHA122813487601501
HP:0002015HP:0031146Impaired oral bolus formation1VPS35 CL E G H55737411602ORPHA122813487601501
HP:0002015HP:0007024Pseudobulbar paralysis1VPS35 CL E G H55737411602ORPHA122813487601501
HP:0002015HP:0200136Oral-pharyngeal dysphagia1VPS35 CL E G H55737411602ORPHA122813487601501
HP:0002015HP:0007024Pseudobulbar paralysis1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0002015HP:0031146Impaired oral bolus formation1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0002015HP:0200136Oral-pharyngeal dysphagia1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0002015HP:0002068Neuromuscular dysphagia1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0002015HP:0031162Impaired oropharyngeal swallow response1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0002015HP:0200136Oral-pharyngeal dysphagia1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0002015HP:0002068Neuromuscular dysphagia1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0002015HP:0031162Impaired oropharyngeal swallow response1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0002015HP:0031146Impaired oral bolus formation1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
HP:0002015HP:0007024Pseudobulbar paralysis1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM127424249610957
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002015HP:0002015Dysphagia0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0002015HP:0002015Dysphagia0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM016524268614215
HP:0002015HP:0002015Dysphagia0ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H4287276241ORPHA0657106607047
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H4287276244ORPHA0657106607047
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H4287276238ORPHA0657106607047
HP:0002015HP:0002015Dysphagia0ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002015HP:0002015Dysphagia0ATXN8OS CL E G H631598760ORPHA08710561603680
HP:0002015HP:0002015Dysphagia0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0002015HP:0002015Dysphagia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM02488740164010
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H1294231568ORPHA037772214120120
HP:0002015HP:0002015Dysphagia0CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0002015HP:0002015Dysphagia0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM01072661603448
HP:0002015HP:0002015Dysphagia0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM02392858601465
HP:0002015HP:0002015Dysphagia0FMR1 CL E G H233293256ORPHA03713775309550
HP:0002015HP:0002015Dysphagia0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM01363954601278
HP:0002015HP:0002015Dysphagia0FTL CL E G H2512157846ORPHA01853999134790
HP:0002015HP:0002015Dysphagia0FXN CL E G H239595ORPHA01583951606829
HP:0002015HP:0002015Dysphagia0GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0002015HP:0002015Dysphagia0GRHL2 CL E G H79977616029Ectodermal dysplasia/short stature syndrome616029C4014987OMIM02372799608576
HP:0002015HP:0002015Dysphagia0IDH1 CL E G H3417163634ORPHA04075382147700
HP:0002015HP:0002015Dysphagia0IDH2 CL E G H3418163634ORPHA02395383147650
HP:0002015HP:0002015Dysphagia0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM010414361606195
HP:0002015HP:0002015Dysphagia0KCNC3 CL E G H374898768ORPHA03116235176264
HP:0002015HP:0002015Dysphagia0KY CL E G H339855496689ORPHA011326576605739
HP:0002015HP:0002015Dysphagia0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA041796482156225
HP:0002015HP:0002015Dysphagia0LMNB1 CL E G H400199027ORPHA02416637150340
HP:0002015HP:0002015Dysphagia0MYOT CL E G H9499266ORPHA037212399604103
HP:0002015HP:0002015Dysphagia0NOP56 CL E G H10528276198ORPHA06715911614154
HP:0002015HP:0002015Dysphagia0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025216873ORPHA049915894606157
HP:0002015HP:0002015Dysphagia0PIGA CL E G H5277447ORPHA04838957311770
HP:0002015HP:0002015Dysphagia0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0002015HP:0002015Dysphagia0PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0002015HP:0002015Dysphagia0PLEC CL E G H5339254361ORPHA050689069601282
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428254892ORPHA023249179174763
HP:0002015HP:0002015Dysphagia0POLG2 CL E G H11232254892ORPHA03579180604983
HP:0002015HP:0002015Dysphagia0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM051030348614366
HP:0002015HP:0002015Dysphagia0PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0002015HP:0002015Dysphagia0PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002015HP:0002015Dysphagia0REEP1 CL E G H65055101011ORPHA043425786609139
HP:0002015HP:0002015Dysphagia0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM043425786609139
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H50484254892ORPHA035417296604712
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM035417296604712
HP:0002015HP:0002015Dysphagia0SACS CL E G H2627898ORPHA0337710519604490
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H632999736ORPHA0176510591603967
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002015HP:0002015Dysphagia0SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0002015HP:0002015Dysphagia0SETX CL E G H2306464753ORPHA01556445608465
HP:0002015HP:0002015Dysphagia0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002015HP:0002015Dysphagia0SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0002015HP:0002015Dysphagia0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM052030224607882
HP:0002015HP:0002015Dysphagia0SON CL E G H6651500150ORPHA0103111183182465
HP:0002015HP:0002015Dysphagia0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H668799013ORPHA096611237602783
HP:0002015HP:0002015Dysphagia0STUB1 CL E G H10273412057ORPHA022611427607207
HP:0002015HP:0002015Dysphagia0SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM010423143610949
HP:0002015HP:0002015Dysphagia0TK2 CL E G H7084254875ORPHA044211831188250
HP:0002015HP:0002015Dysphagia0TRIP4 CL E G H9325616866Spinal muscular atrophy with congenital bone fractures 1616866C4225177OMIM021212310604501
HP:0002015HP:0002015Dysphagia0TUBB4A CL E G H1038298805ORPHA027220774602662
HP:0002015HP:0002015Dysphagia0TWNK CL E G H56652254892ORPHA04501160606075
HP:0002015HP:0002015Dysphagia0VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002015HP:0007024Pseudobulbar paralysis1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0002015HP:0002068Neuromuscular dysphagia1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0002015HP:0031146Impaired oral bolus formation1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0211121316611192
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM016524268614215
HP:0002015HP:0031146Impaired oral bolus formation1ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM016524268614215
HP:0002015HP:0007024Pseudobulbar paralysis1ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM016524268614215
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM016524268614215
HP:0002015HP:0002068Neuromuscular dysphagia1ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM016524268614215
HP:0002015HP:0031146Impaired oral bolus formation1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0002015HP:0007024Pseudobulbar paralysis1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0002015HP:0002068Neuromuscular dysphagia1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0002015HP:0002068Neuromuscular dysphagia1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0002015HP:0031146Impaired oral bolus formation1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0002015HP:0007024Pseudobulbar paralysis1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0002015HP:0031146Impaired oral bolus formation1ATXN3 CL E G H4287276244ORPHA0657106607047
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN3 CL E G H4287276244ORPHA0657106607047
HP:0002015HP:0031146Impaired oral bolus formation1ATXN3 CL E G H4287276238ORPHA0657106607047
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN3 CL E G H4287276238ORPHA0657106607047
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN3 CL E G H4287276241ORPHA0657106607047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN3 CL E G H4287276244ORPHA0657106607047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN3 CL E G H4287276238ORPHA0657106607047
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN3 CL E G H4287276241ORPHA0657106607047
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN3 CL E G H4287276244ORPHA0657106607047
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN3 CL E G H4287276238ORPHA0657106607047
HP:0002015HP:0031146Impaired oral bolus formation1ATXN3 CL E G H4287276241ORPHA0657106607047
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN3 CL E G H4287276241ORPHA0657106607047
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN3 CL E G H4287276244ORPHA0657106607047
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN3 CL E G H4287276238ORPHA0657106607047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN3 CL E G H4287276241ORPHA0657106607047
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002015HP:0031146Impaired oral bolus formation1ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0002015HP:0031162Impaired oropharyngeal swallow response1ATXN8OS CL E G H631598760ORPHA08710561603680
HP:0002015HP:0007024Pseudobulbar paralysis1ATXN8OS CL E G H631598760ORPHA08710561603680
HP:0002015HP:0031146Impaired oral bolus formation1ATXN8OS CL E G H631598760ORPHA08710561603680
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATXN8OS CL E G H631598760ORPHA08710561603680
HP:0002015HP:0002068Neuromuscular dysphagia1ATXN8OS CL E G H631598760ORPHA08710561603680
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0002015HP:0007024Pseudobulbar paralysis1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0002015HP:0031146Impaired oral bolus formation1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0002015HP:0002068Neuromuscular dysphagia1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM02488740164010
HP:0002015HP:0031146Impaired oral bolus formation1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM02488740164010
HP:0002015HP:0007024Pseudobulbar paralysis1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM02488740164010
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM02488740164010
HP:0002015HP:0002068Neuromuscular dysphagia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM02488740164010
HP:0002015HP:0031162Impaired oropharyngeal swallow response1COL7A1 CL E G H1294231568ORPHA037772214120120
HP:0002015HP:0007024Pseudobulbar paralysis1COL7A1 CL E G H1294231568ORPHA037772214120120
HP:0002015HP:0031146Impaired oral bolus formation1COL7A1 CL E G H1294231568ORPHA037772214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1COL7A1 CL E G H1294231568ORPHA037772214120120
HP:0002015HP:0002068Neuromuscular dysphagia1COL7A1 CL E G H1294231568ORPHA037772214120120
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0002015HP:0002068Neuromuscular dysphagia1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0002015HP:0031162Impaired oropharyngeal swallow response1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0002015HP:0031146Impaired oral bolus formation1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0002015HP:0007024Pseudobulbar paralysis1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM01072661603448
HP:0002015HP:0031146Impaired oral bolus formation1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM01072661603448
HP:0002015HP:0007024Pseudobulbar paralysis1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM01072661603448
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM01072661603448
HP:0002015HP:0002068Neuromuscular dysphagia1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM01072661603448
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM02392858601465
HP:0002015HP:0002068Neuromuscular dysphagia1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM02392858601465
HP:0002015HP:0031162Impaired oropharyngeal swallow response1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM02392858601465
HP:0002015HP:0031146Impaired oral bolus formation1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM02392858601465
HP:0002015HP:0007024Pseudobulbar paralysis1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM02392858601465
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FMR1 CL E G H233293256ORPHA03713775309550
HP:0002015HP:0002068Neuromuscular dysphagia1FMR1 CL E G H233293256ORPHA03713775309550
HP:0002015HP:0031162Impaired oropharyngeal swallow response1FMR1 CL E G H233293256ORPHA03713775309550
HP:0002015HP:0031146Impaired oral bolus formation1FMR1 CL E G H233293256ORPHA03713775309550
HP:0002015HP:0007024Pseudobulbar paralysis1FMR1 CL E G H233293256ORPHA03713775309550
HP:0002015HP:0002068Neuromuscular dysphagia1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM01363954601278
HP:0002015HP:0031162Impaired oropharyngeal swallow response1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM01363954601278
HP:0002015HP:0031146Impaired oral bolus formation1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM01363954601278
HP:0002015HP:0007024Pseudobulbar paralysis1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM01363954601278
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM01363954601278
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FTL CL E G H2512157846ORPHA01853999134790
HP:0002015HP:0002068Neuromuscular dysphagia1FTL CL E G H2512157846ORPHA01853999134790
HP:0002015HP:0031162Impaired oropharyngeal swallow response1FTL CL E G H2512157846ORPHA01853999134790
HP:0002015HP:0031146Impaired oral bolus formation1FTL CL E G H2512157846ORPHA01853999134790
HP:0002015HP:0007024Pseudobulbar paralysis1FTL CL E G H2512157846ORPHA01853999134790
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FXN CL E G H239595ORPHA01583951606829
HP:0002015HP:0002068Neuromuscular dysphagia1FXN CL E G H239595ORPHA01583951606829
HP:0002015HP:0031162Impaired oropharyngeal swallow response1FXN CL E G H239595ORPHA01583951606829
HP:0002015HP:0031146Impaired oral bolus formation1FXN CL E G H239595ORPHA01583951606829
HP:0002015HP:0007024Pseudobulbar paralysis1FXN CL E G H239595ORPHA01583951606829
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0002015HP:0002068Neuromuscular dysphagia1GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0002015HP:0007024Pseudobulbar paralysis1GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0002015HP:0031146Impaired oral bolus formation1GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GRHL2 CL E G H79977616029Ectodermal dysplasia/short stature syndrome616029C4014987OMIM02372799608576
HP:0002015HP:0002068Neuromuscular dysphagia1GRHL2 CL E G H79977616029Ectodermal dysplasia/short stature syndrome616029C4014987OMIM02372799608576
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GRHL2 CL E G H79977616029Ectodermal dysplasia/short stature syndrome616029C4014987OMIM02372799608576
HP:0002015HP:0031146Impaired oral bolus formation1GRHL2 CL E G H79977616029Ectodermal dysplasia/short stature syndrome616029C4014987OMIM02372799608576
HP:0002015HP:0007024Pseudobulbar paralysis1GRHL2 CL E G H79977616029Ectodermal dysplasia/short stature syndrome616029C4014987OMIM02372799608576
HP:0002015HP:0031162Impaired oropharyngeal swallow response1IDH1 CL E G H3417163634ORPHA04075382147700
HP:0002015HP:0031146Impaired oral bolus formation1IDH1 CL E G H3417163634ORPHA04075382147700
HP:0002015HP:0007024Pseudobulbar paralysis1IDH1 CL E G H3417163634ORPHA04075382147700
HP:0002015HP:0200136Oral-pharyngeal dysphagia1IDH1 CL E G H3417163634ORPHA04075382147700
HP:0002015HP:0002068Neuromuscular dysphagia1IDH1 CL E G H3417163634ORPHA04075382147700
HP:0002015HP:0200136Oral-pharyngeal dysphagia1IDH2 CL E G H3418163634ORPHA02395383147650
HP:0002015HP:0002068Neuromuscular dysphagia1IDH2 CL E G H3418163634ORPHA02395383147650
HP:0002015HP:0031162Impaired oropharyngeal swallow response1IDH2 CL E G H3418163634ORPHA02395383147650
HP:0002015HP:0007024Pseudobulbar paralysis1IDH2 CL E G H3418163634ORPHA02395383147650
HP:0002015HP:0031146Impaired oral bolus formation1IDH2 CL E G H3418163634ORPHA02395383147650
HP:0002015HP:0031162Impaired oropharyngeal swallow response1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM010414361606195
HP:0002015HP:0031146Impaired oral bolus formation1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM010414361606195
HP:0002015HP:0007024Pseudobulbar paralysis1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM010414361606195
HP:0002015HP:0200136Oral-pharyngeal dysphagia1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM010414361606195
HP:0002015HP:0002068Neuromuscular dysphagia1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM010414361606195
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0002015HP:0031146Impaired oral bolus formation1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0002015HP:0007024Pseudobulbar paralysis1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0002015HP:0002068Neuromuscular dysphagia1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0002015HP:0002068Neuromuscular dysphagia1KY CL E G H339855496689ORPHA011326576605739
HP:0002015HP:0031162Impaired oropharyngeal swallow response1KY CL E G H339855496689ORPHA011326576605739
HP:0002015HP:0031146Impaired oral bolus formation1KY CL E G H339855496689ORPHA011326576605739
HP:0002015HP:0007024Pseudobulbar paralysis1KY CL E G H339855496689ORPHA011326576605739
HP:0002015HP:0200136Oral-pharyngeal dysphagia1KY CL E G H339855496689ORPHA011326576605739
HP:0002015HP:0031162Impaired oropharyngeal swallow response1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA041796482156225
HP:0002015HP:0007024Pseudobulbar paralysis1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA041796482156225
HP:0002015HP:0031146Impaired oral bolus formation1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA041796482156225
HP:0002015HP:0200136Oral-pharyngeal dysphagia1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA041796482156225
HP:0002015HP:0002068Neuromuscular dysphagia1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA041796482156225
HP:0002015HP:0200136Oral-pharyngeal dysphagia1LMNB1 CL E G H400199027ORPHA02416637150340
HP:0002015HP:0002068Neuromuscular dysphagia1LMNB1 CL E G H400199027ORPHA02416637150340
HP:0002015HP:0031162Impaired oropharyngeal swallow response1LMNB1 CL E G H400199027ORPHA02416637150340
HP:0002015HP:0031146Impaired oral bolus formation1LMNB1 CL E G H400199027ORPHA02416637150340
HP:0002015HP:0007024Pseudobulbar paralysis1LMNB1 CL E G H400199027ORPHA02416637150340
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MYOT CL E G H9499266ORPHA037212399604103
HP:0002015HP:0002068Neuromuscular dysphagia1MYOT CL E G H9499266ORPHA037212399604103
HP:0002015HP:0031162Impaired oropharyngeal swallow response1MYOT CL E G H9499266ORPHA037212399604103
HP:0002015HP:0031146Impaired oral bolus formation1MYOT CL E G H9499266ORPHA037212399604103
HP:0002015HP:0007024Pseudobulbar paralysis1MYOT CL E G H9499266ORPHA037212399604103
HP:0002015HP:0002068Neuromuscular dysphagia1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0002015HP:0031146Impaired oral bolus formation1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0002015HP:0007024Pseudobulbar paralysis1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0002015HP:0031146Impaired oral bolus formation1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0002015HP:0007024Pseudobulbar paralysis1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0002015HP:0002068Neuromuscular dysphagia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PANK2 CL E G H80025216873ORPHA049915894606157
HP:0002015HP:0007024Pseudobulbar paralysis1PANK2 CL E G H80025216873ORPHA049915894606157
HP:0002015HP:0031146Impaired oral bolus formation1PANK2 CL E G H80025216873ORPHA049915894606157
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PANK2 CL E G H80025216873ORPHA049915894606157
HP:0002015HP:0002068Neuromuscular dysphagia1PANK2 CL E G H80025216873ORPHA049915894606157
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PIGA CL E G H5277447ORPHA04838957311770
HP:0002015HP:0002068Neuromuscular dysphagia1PIGA CL E G H5277447ORPHA04838957311770
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PIGA CL E G H5277447ORPHA04838957311770
HP:0002015HP:0031146Impaired oral bolus formation1PIGA CL E G H5277447ORPHA04838957311770
HP:0002015HP:0007024Pseudobulbar paralysis1PIGA CL E G H5277447ORPHA04838957311770
HP:0002015HP:0002068Neuromuscular dysphagia1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0002015HP:0031146Impaired oral bolus formation1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0002015HP:0007024Pseudobulbar paralysis1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0002015HP:0002068Neuromuscular dysphagia1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0002015HP:0031146Impaired oral bolus formation1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0002015HP:0007024Pseudobulbar paralysis1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PLEC CL E G H5339254361ORPHA050689069601282
HP:0002015HP:0031146Impaired oral bolus formation1PLEC CL E G H5339254361ORPHA050689069601282
HP:0002015HP:0007024Pseudobulbar paralysis1PLEC CL E G H5339254361ORPHA050689069601282
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PLEC CL E G H5339254361ORPHA050689069601282
HP:0002015HP:0002068Neuromuscular dysphagia1PLEC CL E G H5339254361ORPHA050689069601282
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLG CL E G H5428254892ORPHA023249179174763
HP:0002015HP:0031146Impaired oral bolus formation1POLG CL E G H5428254892ORPHA023249179174763
HP:0002015HP:0007024Pseudobulbar paralysis1POLG CL E G H5428254892ORPHA023249179174763
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLG CL E G H5428254892ORPHA023249179174763
HP:0002015HP:0002068Neuromuscular dysphagia1POLG CL E G H5428254892ORPHA023249179174763
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0002015HP:0002068Neuromuscular dysphagia1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0002015HP:0007024Pseudobulbar paralysis1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0002015HP:0031146Impaired oral bolus formation1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0002015HP:0031162Impaired oropharyngeal swallow response1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM051030348614366
HP:0002015HP:0031146Impaired oral bolus formation1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM051030348614366
HP:0002015HP:0007024Pseudobulbar paralysis1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM051030348614366
HP:0002015HP:0200136Oral-pharyngeal dysphagia1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM051030348614366
HP:0002015HP:0002068Neuromuscular dysphagia1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM051030348614366
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0002015HP:0031146Impaired oral bolus formation1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0002015HP:0007024Pseudobulbar paralysis1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0002015HP:0002068Neuromuscular dysphagia1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0002015HP:0002068Neuromuscular dysphagia1PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002015HP:0031146Impaired oral bolus formation1PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002015HP:0007024Pseudobulbar paralysis1PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002015HP:0031162Impaired oropharyngeal swallow response1REEP1 CL E G H65055101011ORPHA043425786609139
HP:0002015HP:0031146Impaired oral bolus formation1REEP1 CL E G H65055101011ORPHA043425786609139
HP:0002015HP:0007024Pseudobulbar paralysis1REEP1 CL E G H65055101011ORPHA043425786609139
HP:0002015HP:0200136Oral-pharyngeal dysphagia1REEP1 CL E G H65055101011ORPHA043425786609139
HP:0002015HP:0002068Neuromuscular dysphagia1REEP1 CL E G H65055101011ORPHA043425786609139
HP:0002015HP:0200136Oral-pharyngeal dysphagia1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM043425786609139
HP:0002015HP:0002068Neuromuscular dysphagia1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM043425786609139
HP:0002015HP:0031162Impaired oropharyngeal swallow response1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM043425786609139
HP:0002015HP:0007024Pseudobulbar paralysis1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM043425786609139
HP:0002015HP:0031146Impaired oral bolus formation1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM043425786609139
HP:0002015HP:0031162Impaired oropharyngeal swallow response1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0002015HP:0031146Impaired oral bolus formation1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0002015HP:0007024Pseudobulbar paralysis1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0002015HP:0002068Neuromuscular dysphagia1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0002015HP:0031162Impaired oropharyngeal swallow response1RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM035417296604712
HP:0002015HP:0031146Impaired oral bolus formation1RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM035417296604712
HP:0002015HP:0007024Pseudobulbar paralysis1RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM035417296604712
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM035417296604712
HP:0002015HP:0002068Neuromuscular dysphagia1RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM035417296604712
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SACS CL E G H2627898ORPHA0337710519604490
HP:0002015HP:0031146Impaired oral bolus formation1SACS CL E G H2627898ORPHA0337710519604490
HP:0002015HP:0007024Pseudobulbar paralysis1SACS CL E G H2627898ORPHA0337710519604490
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SACS CL E G H2627898ORPHA0337710519604490
HP:0002015HP:0002068Neuromuscular dysphagia1SACS CL E G H2627898ORPHA0337710519604490
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SCN4A CL E G H632999736ORPHA0176510591603967
HP:0002015HP:0002068Neuromuscular dysphagia1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002015HP:0031146Impaired oral bolus formation1SCN4A CL E G H632999736ORPHA0176510591603967
HP:0002015HP:0007024Pseudobulbar paralysis1SCN4A CL E G H632999736ORPHA0176510591603967
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SCN4A CL E G H632999736ORPHA0176510591603967
HP:0002015HP:0031146Impaired oral bolus formation1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002015HP:0007024Pseudobulbar paralysis1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002015HP:0002068Neuromuscular dysphagia1SCN4A CL E G H632999736ORPHA0176510591603967
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0002015HP:0031146Impaired oral bolus formation1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0002015HP:0007024Pseudobulbar paralysis1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0002015HP:0002068Neuromuscular dysphagia1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SETX CL E G H2306464753ORPHA01556445608465
HP:0002015HP:0031146Impaired oral bolus formation1SETX CL E G H2306464753ORPHA01556445608465
HP:0002015HP:0007024Pseudobulbar paralysis1SETX CL E G H2306464753ORPHA01556445608465
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SETX CL E G H2306464753ORPHA01556445608465
HP:0002015HP:0002068Neuromuscular dysphagia1SETX CL E G H2306464753ORPHA01556445608465
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002015HP:0031146Impaired oral bolus formation1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002015HP:0007024Pseudobulbar paralysis1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002015HP:0002068Neuromuscular dysphagia1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0002015HP:0002068Neuromuscular dysphagia1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0002015HP:0031146Impaired oral bolus formation1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0002015HP:0007024Pseudobulbar paralysis1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM052030224607882
HP:0002015HP:0031146Impaired oral bolus formation1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM052030224607882
HP:0002015HP:0007024Pseudobulbar paralysis1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM052030224607882
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM052030224607882
HP:0002015HP:0002068Neuromuscular dysphagia1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM052030224607882
HP:0002015HP:0031146Impaired oral bolus formation1SON CL E G H6651500150ORPHA0103111183182465
HP:0002015HP:0007024Pseudobulbar paralysis1SON CL E G H6651500150ORPHA0103111183182465
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SON CL E G H6651500150ORPHA0103111183182465
HP:0002015HP:0002068Neuromuscular dysphagia1SON CL E G H6651500150ORPHA0103111183182465
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SON CL E G H6651500150ORPHA0103111183182465
HP:0002015HP:0031146Impaired oral bolus formation1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0002015HP:0007024Pseudobulbar paralysis1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0002015HP:0002068Neuromuscular dysphagia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SPG7 CL E G H668799013ORPHA096611237602783
HP:0002015HP:0031146Impaired oral bolus formation1SPG7 CL E G H668799013ORPHA096611237602783
HP:0002015HP:0007024Pseudobulbar paralysis1SPG7 CL E G H668799013ORPHA096611237602783
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SPG7 CL E G H668799013ORPHA096611237602783
HP:0002015HP:0002068Neuromuscular dysphagia1SPG7 CL E G H668799013ORPHA096611237602783
HP:0002015HP:0007024Pseudobulbar paralysis1STUB1 CL E G H10273412057ORPHA022611427607207
HP:0002015HP:0031146Impaired oral bolus formation1STUB1 CL E G H10273412057ORPHA022611427607207
HP:0002015HP:0200136Oral-pharyngeal dysphagia1STUB1 CL E G H10273412057ORPHA022611427607207
HP:0002015HP:0002068Neuromuscular dysphagia1STUB1 CL E G H10273412057ORPHA022611427607207
HP:0002015HP:0031162Impaired oropharyngeal swallow response1STUB1 CL E G H10273412057ORPHA022611427607207
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM010423143610949
HP:0002015HP:0002068Neuromuscular dysphagia1SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM010423143610949
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM010423143610949
HP:0002015HP:0007024Pseudobulbar paralysis1SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM010423143610949
HP:0002015HP:0031146Impaired oral bolus formation1SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM010423143610949
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TK2 CL E G H7084254875ORPHA044211831188250
HP:0002015HP:0002068Neuromuscular dysphagia1TK2 CL E G H7084254875ORPHA044211831188250
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TK2 CL E G H7084254875ORPHA044211831188250
HP:0002015HP:0031146Impaired oral bolus formation1TK2 CL E G H7084254875ORPHA044211831188250
HP:0002015HP:0007024Pseudobulbar paralysis1TK2 CL E G H7084254875ORPHA044211831188250
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TRIP4 CL E G H9325616866Spinal muscular atrophy with congenital bone fractures 1616866C4225177OMIM021212310604501
HP:0002015HP:0002068Neuromuscular dysphagia1TRIP4 CL E G H9325616866Spinal muscular atrophy with congenital bone fractures 1616866C4225177OMIM021212310604501
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TRIP4 CL E G H9325616866Spinal muscular atrophy with congenital bone fractures 1616866C4225177OMIM021212310604501
HP:0002015HP:0031146Impaired oral bolus formation1TRIP4 CL E G H9325616866Spinal muscular atrophy with congenital bone fractures 1616866C4225177OMIM021212310604501
HP:0002015HP:0007024Pseudobulbar paralysis1TRIP4 CL E G H9325616866Spinal muscular atrophy with congenital bone fractures 1616866C4225177OMIM021212310604501
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TUBB4A CL E G H1038298805ORPHA027220774602662
HP:0002015HP:0002068Neuromuscular dysphagia1TUBB4A CL E G H1038298805ORPHA027220774602662
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TUBB4A CL E G H1038298805ORPHA027220774602662
HP:0002015HP:0007024Pseudobulbar paralysis1TUBB4A CL E G H1038298805ORPHA027220774602662
HP:0002015HP:0031146Impaired oral bolus formation1TUBB4A CL E G H1038298805ORPHA027220774602662
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TWNK CL E G H56652254892ORPHA04501160606075
HP:0002015HP:0007024Pseudobulbar paralysis1TWNK CL E G H56652254892ORPHA04501160606075
HP:0002015HP:0031146Impaired oral bolus formation1TWNK CL E G H56652254892ORPHA04501160606075
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TWNK CL E G H56652254892ORPHA04501160606075
HP:0002015HP:0002068Neuromuscular dysphagia1TWNK CL E G H56652254892ORPHA04501160606075
HP:0002015HP:0200136Oral-pharyngeal dysphagia1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002015HP:0002068Neuromuscular dysphagia1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002015HP:0031162Impaired oropharyngeal swallow response1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002015HP:0031146Impaired oral bolus formation1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002015HP:0007024Pseudobulbar paralysis1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704


Genes (278) :ACOX1 ACTA1 ACTB ACTG2 ADAR ADCY6 ADD3 AFG3L2 AGRN ALDH18A1 ALS2 ANKRD11 APP AR ARX ASAH1 ASCC1 ASPA ATP13A2 ATP1A3 ATP6 ATP7A ATP7B ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS B4GALNT1 BRAF C19ORF12 C19orf12 C9ORF72 C9orf72 CACNA1A CACNA1G CARMIL2 CAV1 CAVIN1 CCN2 CCR6 CDC73 CHAT CHCHD10 CHD7 CHMP1A CHMP2B CHRNA1 CHRND CHRNE CLCN1 CNTNAP1 COL13A1 COL7A1 COLQ COQ2 COQ4 CRYAB CTNS CYP27A1 CYP7B1 DAB1 DDHD2 DGUOK DKK1 DMPK DNAJB6 DNAJC13 EBF3 ECM1 EIF4G1 EPRS ERLIN2 EXOSC9 FBXL4 FBXO7 FERMT1 FLAD1 FLCN FMR1 FRG1 FTL FUS FXN GABRD GBA GBA2 GCH1 GEMIN4 GFPT1 GIGYF2 GJB1 GMPPA GNAQ GNS GRHL2 GRIN2D GUCY1A1 HGSNAT HLA-B HLA-DRB1 HOXB1 HPCA HPRT1 HTT IDH1 IDH2 IKZF1 IRF2BPL IRF5 IRX5 ITGB4 KAT6B KBTBD13 KCNAB2 KCNC3 KCND3 KCNK9 KIAA0319L KIF5A KIT KLHL40 KLHL41 KLHL7 KMT2A KY LAMA2 LAMB2 LBR LIFR LINGO1 LMNB1 LMOD3 LRRK2 MAP2K2 MAPT MATR3 MECP2 MECR MED17 MEGF10 MFF MGME1 MID1 MMP1 MPZ MT-ATP6 MYH7 MYH8 MYMK MYO9A MYOT MYPN NDUFA6 NDUFAF2 NDUFS1 NEB NF1 NGLY1 NOP56 NOTCH3 NPC1 NPC2 NR4A2 NUP62 OPTN PABPN1 PANK2 PCNA PDE8B PDGFRA PDP1 PEX16 PFN1 PIGA PIGN PIK3R5 PLA2G6 PLAA PLEC PLP1 PLXND1 PMP22 PNKD POLG POLG2 POLR3A POLR3B PRDM16 PRKCG PRKRA PRNP PRPS1 PSAP PSEN1 PTS PUF60 PYROXD1 QDPR RAI1 RARS REEP1 RERE REV3L RHBDF2 RLIM RNASEH1 RRM2B RYR1 SACS SCARB2 SCN3A SCN4A SDHA SDHB SDHC SDHD SELENON SEMA3E SERPING1 SETBP1 SETX SIK1 SKI SLC18A3 SLC19A3 SLC25A1 SLC25A22 SLC25A4 SLC52A2 SLC52A3 SLC5A7 SLC6A9 SLC9A6 SMC1A SNAP25 SNCA SNCAIP SOD1 SON SPART SPECC1L SPG11 SPG21 SPG7 SQSTM1 STUB1 SYT14 SYT2 TAF1 TANGO2 TARDBP TBK1 TBP TGM6 TIMM8A TK2 TPM2 TPM3 TRAPPC12 TRIP4 TTBK2 TUBB4A TWNK TYMP UBQLN2 UBTF VAC14 VAMP1 VAPB VCP VPS13A VPS35 WFS1 YARS2 ZFYVE26

Diseases (297) :264470 171430 171433 255310 161800 79107 155310 225154 617008 313772 614487 98914 247604 205100 607225 606353 261250 324708 313200 308350 616867 314911 306674 71517 1171 128235 198 277900 98755 164400 603516 183090 276238 276241 276244 109150 94147 164500 98760 608768 613706 289560 275872 98758 183086 458803 616795 618131 220393 220402 613327 99880 143 254210 615911 214800 614961 614696 608930 601462 616321 616323 605809 608931 255700 89842 79409 79408 231568 226600 98915 603034 616276 399058 219800 100986 615945 320380 615033 329314 617070 268882 160900 34516 603511 411602 617330 530 617951 615471 171695 2908 255100 93256 158900 157846 606159 95 1606 77260 230900 608013 352641 233910 617913 302800 615510 3205 252940 616029 617162 615750 252930 36426 614744 224500 300322 617435 163634 618088 611174 158684 606170 98768 607346 612292 617235 44890 606764 615348 617055 319182 496689 258 779 601559 618103 99027 638 601104 600 606070 300260 617282 613668 614399 617086 352447 300000 607736 158300 254940 618198 266 182920 618253 618233 618226 256030 276198 614153 257220 607625 168600 271930 613435 164300 216866 216873 607236 234200 615919 228169 608782 614877 614808 447 280633 64753 199351 610217 617527 254361 312080 570 118800 254892 254886 157640 258450 298 94125 447896 607694 264090 614381 605361 210571 612067 600072 301835 249900 607822 261640 13 508488 617258 226 261630 101011 610250 2198 300978 329336 616479 613077 98 254900 617938 99735 684 99736 99734 97286 100050 798 606002 1935 607483 97229 614707 211530 211500 617143 617301 85278 300243 168601 500150 101000 145410 604360 101001 248900 35689 99013 607259 616437 412057 284271 614229 612069 616439 607136 304700 254875 617069 609284 617669 616866 98767 98805 128101 609286 300857 617672 617054 251282 108600 608627 200150 222300 613561 171439 616287 616586 159950 101006 616286 227510 213700 209951 618065 610883 169500 615273 125310 521426 98916 1713 438114 105400 53351 300966 616878 276193 100996
 

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