Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the nervous system (HP:0000707)help
Parent Node:
expand
Abnormality of esophagus physiology (HP:0025270)help
Parent Node:
expand
Abnormality of nervous system physiology (HP:0012638)help
..Starting node
..expand
Dysphagia (HP:0002015)help
Term ID: 2015
Name: Dysphagia
Synonym: Deglutition disorder; 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 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 central motor function (HP:0011442) help
..expandAbnormality of central sensory function (HP:0011730) 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
..expandSeizures (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 adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58171433ORPHA1217272129102610
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58171430ORPHA1217272129102610
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217272129102610
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217272129102610
HP:0002015HP:0002015Dysphagia0ACTB CL E G H6079107ORPHA165224132102630
HP:0002015HP:0002015Dysphagia0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM12049145102545
HP:0002015HP:0002015Dysphagia0ADAR CL E G H103225154ORPHA1229316225146920
HP:0002015HP:0002015Dysphagia0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1847245601568
HP:0002015HP:0002015Dysphagia0AFG3L2 CL E G H10939313772ORPHA140266315604581
HP:0002015HP:0002015Dysphagia0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140266315604581
HP:0002015HP:0002015Dysphagia0AGRN CL E G H37579098914ORPHA118942329103320
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679247604ORPHA173347443606352
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM173347443606352
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173347443606352
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM173347443606352
HP:0002015HP:0002015Dysphagia0APP CL E G H351324708ORPHA1107232620104760
HP:0002015HP:0002015Dysphagia0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1627400644313700
HP:0002015HP:0002015Dysphagia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM19846618060300382
HP:0002015HP:0002015Dysphagia0ASPA CL E G H443314911ORPHA1102177756608034
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H47871517ORPHA1122407801182350
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1122407801182350
HP:0002015HP:0002015Dysphagia0ATP7A CL E G H538198ORPHA1357607869300011
HP:0002015HP:0002015Dysphagia0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM1938958870606882
HP:0002015HP:0002015Dysphagia0ATXN1 CL E G H631098755ORPHA176910548601556
HP:0002015HP:0002015Dysphagia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM176910548601556
HP:0002015HP:0002015Dysphagia0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM147710549611150
HP:0002015HP:0002015Dysphagia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM13347106607047
HP:0002015HP:0002015Dysphagia0ATXN7 CL E G H631494147ORPHA163110560607640
HP:0002015HP:0002015Dysphagia0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM163110560607640
HP:0002015HP:0002015Dysphagia0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM12232925613289
HP:0002015HP:0002015Dysphagia0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM156910561603680
HP:0002015HP:0002015Dysphagia0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM1684901097164757
HP:0002015HP:0002015Dysphagia0C19orf12 CL E G H83636289560ORPHA13820625443614297
HP:0002015HP:0002015Dysphagia0C9orf72 CL E G H203228275872ORPHA12415828337614260
HP:0002015HP:0002015Dysphagia0CACNA1A CL E G H77398758ORPHA125113931388601011
HP:0002015HP:0002015Dysphagia0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM125113931388601011
HP:0002015HP:0002015Dysphagia0CACNA1G CL E G H8913458803ORPHA1121671394604065
HP:0002015HP:0002015Dysphagia0CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM185627089610859
HP:0002015HP:0002015Dysphagia0CAV1 CL E G H857220402ORPHA113621527601047
HP:0002015HP:0002015Dysphagia0CAV1 CL E G H857220393ORPHA113621527601047
HP:0002015HP:0002015Dysphagia0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0002015HP:0002015Dysphagia0CCN2 CL E G H1490220402ORPHA1222500121009
HP:0002015HP:0002015Dysphagia0CCN2 CL E G H1490220393ORPHA1222500121009
HP:0002015HP:0002015Dysphagia0CCR6 CL E G H1235220393ORPHA11481607601835
HP:0002015HP:0002015Dysphagia0CCR6 CL E G H1235220402ORPHA11481607601835
HP:0002015HP:0002015Dysphagia0CDC73 CL E G H79577143ORPHA110452616783607393
HP:0002015HP:0002015Dysphagia0CDC73 CL E G H7957799880ORPHA110452616783607393
HP:0002015HP:0002015Dysphagia0CHAT CL E G H110398914ORPHA1773741912118490
HP:0002015HP:0002015Dysphagia0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1773741912118490
HP:0002015HP:0002015Dysphagia0CHCHD10 CL E G H400916275872ORPHA12716315559615903
HP:0002015HP:0002015Dysphagia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM12716315559615903
HP:0002015HP:0002015Dysphagia0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0002015HP:0002015Dysphagia0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM1229624537609512
HP:0002015HP:0002015Dysphagia0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1362361955100690
HP:0002015HP:0002015Dysphagia0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1362361955100690
HP:0002015HP:0002015Dysphagia0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM1262531965100720
HP:0002015HP:0002015Dysphagia0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM1262531965100720
HP:0002015HP:0002015Dysphagia0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11383871966100725
HP:0002015HP:0002015Dysphagia0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11383871966100725
HP:0002015HP:0002015Dysphagia0CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM13175342019118425
HP:0002015HP:0002015Dysphagia0COL13A1 CL E G H130598914ORPHA13682190120350
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H129479408ORPHA18286912214120120
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H129479409ORPHA18286912214120120
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H129489842ORPHA18286912214120120
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0002015HP:0002015Dysphagia0COLQ CL E G H829298915ORPHA1702622226603033
HP:0002015HP:0002015Dysphagia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1702622226603033
HP:0002015HP:0002015Dysphagia0COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM11613419693612898
HP:0002015HP:0002015Dysphagia0CRYAB CL E G H1410399058ORPHA1301342389123590
HP:0002015HP:0002015Dysphagia0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11604182518606272
HP:0002015HP:0002015Dysphagia0DDHD2 CL E G H23259320380ORPHA11915229106615003
HP:0002015HP:0002015Dysphagia0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM11915229106615003
HP:0002015HP:0002015Dysphagia0DGUOK CL E G H1716329314ORPHA1641222858601465
HP:0002015HP:0002015Dysphagia0DKK1 CL E G H22943268882ORPHA14222891605189
HP:0002015HP:0002015Dysphagia0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182332933605377
HP:0002015HP:0002015Dysphagia0DNAJB6 CL E G H1004934516ORPHA11829614888611332
HP:0002015HP:0002015Dysphagia0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM11829614888611332
HP:0002015HP:0002015Dysphagia0DNAJC13 CL E G H23317411602ORPHA1165130343614334
HP:0002015HP:0002015Dysphagia0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0002015HP:0002015Dysphagia0ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA166433153602201
HP:0002015HP:0002015Dysphagia0EIF4G1 CL E G H1981411602ORPHA120523296600495
HP:0002015HP:0002015Dysphagia0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0002015HP:0002015Dysphagia0ERLIN2 CL E G H11160247604ORPHA1151031356611605
HP:0002015HP:0002015Dysphagia0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0002015HP:0002015Dysphagia0FBXO7 CL E G H25793171695ORPHA11710913586605648
HP:0002015HP:0002015Dysphagia0FERMT1 CL E G H556122908ORPHA18322515889607900
HP:0002015HP:0002015Dysphagia0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM1105224671610595
HP:0002015HP:0002015Dysphagia0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM164913999134790
HP:0002015HP:0002015Dysphagia0FUS CL E G H2521275872ORPHA11132644010137070
HP:0002015HP:0002015Dysphagia0GABRD CL E G H25631606ORPHA172784084137163
HP:0002015HP:0002015Dysphagia0GBA CL E G H262977260ORPHA14942064177606463
HP:0002015HP:0002015Dysphagia0GBA CL E G H2629411602ORPHA14942064177606463
HP:0002015HP:0002015Dysphagia0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0002015HP:0002015Dysphagia0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0002015HP:0002015Dysphagia0GBA2 CL E G H57704352641ORPHA12319418986609471
HP:0002015HP:0002015Dysphagia0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522084193600225
HP:0002015HP:0002015Dysphagia0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM1512815717606969
HP:0002015HP:0002015Dysphagia0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1502924241138292
HP:0002015HP:0002015Dysphagia0GIGYF2 CL E G H26058411602ORPHA13612611960612003
HP:0002015HP:0002015Dysphagia0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM14996684283304040
HP:0002015HP:0002015Dysphagia0GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM1127422923615495
HP:0002015HP:0002015Dysphagia0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0002015HP:0002015Dysphagia0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM12774588602717
HP:0002015HP:0002015Dysphagia0GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM119614685139396
HP:0002015HP:0002015Dysphagia0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0002015HP:0002015Dysphagia0HLA-B CL E G H310636426ORPHA153174932142830
HP:0002015HP:0002015Dysphagia0HLA-DRB1 CL E G H3123220402ORPHA126194948142857
HP:0002015HP:0002015Dysphagia0HLA-DRB1 CL E G H3123220393ORPHA126194948142857
HP:0002015HP:0002015Dysphagia0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM16275111142968
HP:0002015HP:0002015Dysphagia0HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM16195144142622
HP:0002015HP:0002015Dysphagia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM14282725157308000
HP:0002015HP:0002015Dysphagia0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM181274851613004
HP:0002015HP:0002015Dysphagia0IKZF1 CL E G H1032036426ORPHA1384213176603023
HP:0002015HP:0002015Dysphagia0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM1114514282611720
HP:0002015HP:0002015Dysphagia0IRF5 CL E G H3663220393ORPHA110386120607218
HP:0002015HP:0002015Dysphagia0IRF5 CL E G H3663220402ORPHA110386120607218
HP:0002015HP:0002015Dysphagia0ITGB4 CL E G H3691158684ORPHA1992926158147557
HP:0002015HP:0002015Dysphagia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17622817582605880
HP:0002015HP:0002015Dysphagia0KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0002015HP:0002015Dysphagia0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM1291686239605411
HP:0002015HP:0002015Dysphagia0KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM12656283605874
HP:0002015HP:0002015Dysphagia0KIAA0319L CL E G H79932220402ORPHA12830071613535
HP:0002015HP:0002015Dysphagia0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM1692496323602821
HP:0002015HP:0002015Dysphagia0KIT CL E G H381544890ORPHA112111046342164920
HP:0002015HP:0002015Dysphagia0KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM112111046342164920
HP:0002015HP:0002015Dysphagia0KLHL40 CL E G H131377171430ORPHA12619030372615340
HP:0002015HP:0002015Dysphagia0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM12619030372615340
HP:0002015HP:0002015Dysphagia0KLHL41 CL E G H10324171430ORPHA199816905607701
HP:0002015HP:0002015Dysphagia0KLHL41 CL E G H10324171433ORPHA199816905607701
HP:0002015HP:0002015Dysphagia0KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM11412715646611119
HP:0002015HP:0002015Dysphagia0KMT2A CL E G H4297319182ORPHA11273797132159555
HP:0002015HP:0002015Dysphagia0LAMB2 CL E G H391398915ORPHA11273686487150325
HP:0002015HP:0002015Dysphagia0LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA1281726518600024
HP:0002015HP:0002015Dysphagia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1323466597151443
HP:0002015HP:0002015Dysphagia0LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM133021205609791
HP:0002015HP:0002015Dysphagia0LMOD3 CL E G H56203171430ORPHA1181686649616112
HP:0002015HP:0002015Dysphagia0LRRK2 CL E G H120892411602ORPHA113838818618609007
HP:0002015HP:0002015Dysphagia0MAP2K2 CL E G H5605638ORPHA1353386842601263
HP:0002015HP:0002015Dysphagia0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM11203796893157140
HP:0002015HP:0002015Dysphagia0MATR3 CL E G H9782600ORPHA1161936912164015
HP:0002015HP:0002015Dysphagia0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM1161936912164015
HP:0002015HP:0002015Dysphagia0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0002015HP:0002015Dysphagia0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM163219691608205
HP:0002015HP:0002015Dysphagia0MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14792375603810
HP:0002015HP:0002015Dysphagia0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM11949529634612453
HP:0002015HP:0002015Dysphagia0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM146424858614785
HP:0002015HP:0002015Dysphagia0MGME1 CL E G H92667352447ORPHA174616205615076
HP:0002015HP:0002015Dysphagia0MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM1982897095300552
HP:0002015HP:0002015Dysphagia0MMP1 CL E G H431279408ORPHA18337155120353
HP:0002015HP:0002015Dysphagia0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM12464447225159440
HP:0002015HP:0002015Dysphagia0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002015HP:0002015Dysphagia0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1100224407577160760
HP:0002015HP:0002015Dysphagia0MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM132257578160741
HP:0002015HP:0002015Dysphagia0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0002015HP:0002015Dysphagia0MYO9A CL E G H464998914ORPHA16957608604875
HP:0002015HP:0002015Dysphagia0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM16957608604875
HP:0002015HP:0002015Dysphagia0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM11618812399604103
HP:0002015HP:0002015Dysphagia0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM13407690602138
HP:0002015HP:0002015Dysphagia0NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM188728086609653
HP:0002015HP:0002015Dysphagia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1281927707157655
HP:0002015HP:0002015Dysphagia0NEB CL E G H4703171433ORPHA132130107720161650
HP:0002015HP:0002015Dysphagia0NEB CL E G H4703171430ORPHA132130107720161650
HP:0002015HP:0002015Dysphagia0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132130107720161650
HP:0002015HP:0002015Dysphagia0NF1 CL E G H4763638ORPHA1301164917765613113
HP:0002015HP:0002015Dysphagia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM14787167897607623
HP:0002015HP:0002015Dysphagia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM1277814537601015
HP:0002015HP:0002015Dysphagia0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM123797981601828
HP:0002015HP:0002015Dysphagia0NUP62 CL E G H23636225154ORPHA11418066605815
HP:0002015HP:0002015Dysphagia0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11418066605815
HP:0002015HP:0002015Dysphagia0OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM17215817142602432
HP:0002015HP:0002015Dysphagia0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM123358565602279
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025216866ORPHA118219215894606157
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM118219215894606157
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM118219215894606157
HP:0002015HP:0002015Dysphagia0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM11408729176740
HP:0002015HP:0002015Dysphagia0PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA1111348794603390
HP:0002015HP:0002015Dysphagia0PDGFRA CL E G H515644890ORPHA12812488803173490
HP:0002015HP:0002015Dysphagia0PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM12812488803173490
HP:0002015HP:0002015Dysphagia0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM13729279605993
HP:0002015HP:0002015Dysphagia0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0002015HP:0002015Dysphagia0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM19468881176610
HP:0002015HP:0002015Dysphagia0PLA2G6 CL E G H8398199351ORPHA11792899039603604
HP:0002015HP:0002015Dysphagia0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM11792899039603604
HP:0002015HP:0002015Dysphagia0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0002015HP:0002015Dysphagia0PLEC CL E G H5339158684ORPHA110427619069601282
HP:0002015HP:0002015Dysphagia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13523009086300401
HP:0002015HP:0002015Dysphagia0PLXND1 CL E G H23129570ORPHA181049107604282
HP:0002015HP:0002015Dysphagia0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM152339153609023
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428254886ORPHA130011969179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130011969179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM130011969179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130011969179174763
HP:0002015HP:0002015Dysphagia0POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA130011969179174763
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H11128447896ORPHA19230630074614258
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM19230630074614258
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0002015HP:0002015Dysphagia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM15812730348614366
HP:0002015HP:0002015Dysphagia0PRDM16 CL E G H639761606ORPHA12167714000605557
HP:0002015HP:0002015Dysphagia0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM1521859402176980
HP:0002015HP:0002015Dysphagia0PRKRA CL E G H8575210571ORPHA1111029438603424
HP:0002015HP:0002015Dysphagia0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM1111029438603424
HP:0002015HP:0002015Dysphagia0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11091269449176640
HP:0002015HP:0002015Dysphagia0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322599462311850
HP:0002015HP:0002015Dysphagia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM1272209498176801
HP:0002015HP:0002015Dysphagia0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM13203699508104311
HP:0002015HP:0002015Dysphagia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM1112989689612719
HP:0002015HP:0002015Dysphagia0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM168326162617220
HP:0002015HP:0002015Dysphagia0QDPR CL E G H5860226ORPHA1671259752612676
HP:0002015HP:0002015Dysphagia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM1671259752612676
HP:0002015HP:0002015Dysphagia0RERE CL E G H4731606ORPHA1251619965605226
HP:0002015HP:0002015Dysphagia0REV3L CL E G H5980570ORPHA191249968602776
HP:0002015HP:0002015Dysphagia0RHBDF2 CL E G H796512198ORPHA1414220788614404
HP:0002015HP:0002015Dysphagia0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0002015HP:0002015Dysphagia0RNASEH1 CL E G H246243329336ORPHA146518466604123
HP:0002015HP:0002015Dysphagia0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM146518466604123
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H50484329336ORPHA14321617296604712
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14321617296604712
HP:0002015HP:0002015Dysphagia0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1688309410483180901
HP:0002015HP:0002015Dysphagia0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM1272291665602257
HP:0002015HP:0002015Dysphagia0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM11942210590182391
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H632999734ORPHA112984810591603967
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H6329684ORPHA112984810591603967
HP:0002015HP:0002015Dysphagia0SDHA CL E G H638944890ORPHA191127910680600857
HP:0002015HP:0002015Dysphagia0SDHB CL E G H639097286ORPHA127966710681185470
HP:0002015HP:0002015Dysphagia0SDHB CL E G H639044890ORPHA127966710681185470
HP:0002015HP:0002015Dysphagia0SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM127966710681185470
HP:0002015HP:0002015Dysphagia0SDHC CL E G H639197286ORPHA16241510682602413
HP:0002015HP:0002015Dysphagia0SDHC CL E G H639144890ORPHA16241510682602413
HP:0002015HP:0002015Dysphagia0SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM16241510682602413
HP:0002015HP:0002015Dysphagia0SDHD CL E G H639297286ORPHA117436110683602690
HP:0002015HP:0002015Dysphagia0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM16335415999606210
HP:0002015HP:0002015Dysphagia0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0002015HP:0002015Dysphagia0SERPING1 CL E G H710100050ORPHA15671881228606860
HP:0002015HP:0002015Dysphagia0SIK1 CL E G H1500941935ORPHA1741411142605705
HP:0002015HP:0002015Dysphagia0SKI CL E G H64971606ORPHA12450210896164780
HP:0002015HP:0002015Dysphagia0SLC18A3 CL E G H657298914ORPHA168910936600336
HP:0002015HP:0002015Dysphagia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM13831816266606152
HP:0002015HP:0002015Dysphagia0SLC25A1 CL E G H657698914ORPHA12442910979190315
HP:0002015HP:0002015Dysphagia0SLC25A22 CL E G H797511935ORPHA11031719954609302
HP:0002015HP:0002015Dysphagia0SLC52A2 CL E G H7958197229ORPHA12726030224607882
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H11327897229ORPHA14424316187613350
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM14424316187613350
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM14424316187613350
HP:0002015HP:0002015Dysphagia0SLC5A7 CL E G H6048298914ORPHA12016914025608761
HP:0002015HP:0002015Dysphagia0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM12016914025608761
HP:0002015HP:0002015Dysphagia0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM135411056601019
HP:0002015HP:0002015Dysphagia0SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0002015HP:0002015Dysphagia0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0002015HP:0002015Dysphagia0SMC1A CL E G H8243319182ORPHA110048411111300040
HP:0002015HP:0002015Dysphagia0SNAP25 CL E G H661698914ORPHA176411132600322
HP:0002015HP:0002015Dysphagia0SNCA CL E G H6622411602ORPHA13713011138163890
HP:0002015HP:0002015Dysphagia0SNCA CL E G H6622171695ORPHA13713011138163890
HP:0002015HP:0002015Dysphagia0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM13713011138163890
HP:0002015HP:0002015Dysphagia0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM1611511139603779
HP:0002015HP:0002015Dysphagia0SPART CL E G H23111101000ORPHA1718318514607111
HP:0002015HP:0002015Dysphagia0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0002015HP:0002015Dysphagia0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1293106511226610844
HP:0002015HP:0002015Dysphagia0SPG21 CL E G H51324101001ORPHA137920373608181
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H668735689ORPHA111146011237602783
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM111146011237602783
HP:0002015HP:0002015Dysphagia0SQSTM1 CL E G H8878275872ORPHA19826711280601530
HP:0002015HP:0002015Dysphagia0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM19826711280601530
HP:0002015HP:0002015Dysphagia0SYT14 CL E G H255928284271ORPHA135623143610949
HP:0002015HP:0002015Dysphagia0SYT2 CL E G H12783398914ORPHA133911510600104
HP:0002015HP:0002015Dysphagia0TARDBP CL E G H23435275872ORPHA17018411571605078
HP:0002015HP:0002015Dysphagia0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM17018411571605078
HP:0002015HP:0002015Dysphagia0TBK1 CL E G H29110275872ORPHA113711811584604834
HP:0002015HP:0002015Dysphagia0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM113711811584604834
HP:0002015HP:0002015Dysphagia0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM1189111588600075
HP:0002015HP:0002015Dysphagia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0002015HP:0002015Dysphagia0TK2 CL E G H7084254886ORPHA16020611831188250
HP:0002015HP:0002015Dysphagia0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM16020611831188250
HP:0002015HP:0002015Dysphagia0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM14019912011190990
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H7170171433ORPHA12822512012191030
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM12822512012191030
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM12822512012191030
HP:0002015HP:0002015Dysphagia0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM134824284614139
HP:0002015HP:0002015Dysphagia0TTBK2 CL E G H14605798767ORPHA11115419141611695
HP:0002015HP:0002015Dysphagia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM14213920774602662
HP:0002015HP:0002015Dysphagia0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM1831941160606075
HP:0002015HP:0002015Dysphagia0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1953813148131222
HP:0002015HP:0002015Dysphagia0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM13118712509300264
HP:0002015HP:0002015Dysphagia0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM132312511600673
HP:0002015HP:0002015Dysphagia0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM177725507604632
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H6843251282ORPHA166412642185880
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H684398914ORPHA166412642185880
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM166412642185880
HP:0002015HP:0002015Dysphagia0VCP CL E G H7415275872ORPHA16526012666601023
HP:0002015HP:0002015Dysphagia0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM11165061908605978
HP:0002015HP:0002015Dysphagia0VPS35 CL E G H55737411602ORPHA12311713487601501
HP:0002015HP:0002015Dysphagia0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM139371412762606201
HP:0002015HP:0002015Dysphagia0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM11320324249610957
HP:0002015HP:0002015Dysphagia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0002015HP:0002015Dysphagia1ACTA1 CL E G H58171430ORPHA1217272129102610
HP:0002015HP:0002015Dysphagia1ACTA1 CL E G H58171433ORPHA1217272129102610
HP:0002015HP:0002015Dysphagia1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217272129102610
HP:0002015HP:0002015Dysphagia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217272129102610
HP:0002015HP:0002015Dysphagia1ACTB CL E G H6079107ORPHA165224132102630
HP:0002015HP:0002015Dysphagia1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM12049145102545
HP:0002015HP:0002015Dysphagia1ADAR CL E G H103225154ORPHA1229316225146920
HP:0002015HP:0002015Dysphagia1ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1847245601568
HP:0002015HP:0002015Dysphagia1AFG3L2 CL E G H10939313772ORPHA140266315604581
HP:0002015HP:0002015Dysphagia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140266315604581
HP:0002015HP:0002015Dysphagia1AGRN CL E G H37579098914ORPHA118942329103320
HP:0002015HP:0002015Dysphagia1ALS2 CL E G H57679247604ORPHA173347443606352
HP:0002015HP:0002015Dysphagia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM173347443606352
HP:0002015HP:0002015Dysphagia1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173347443606352
HP:0002015HP:0002015Dysphagia1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM173347443606352
HP:0002015HP:0002015Dysphagia1APP CL E G H351324708ORPHA1107232620104760
HP:0002015HP:0002015Dysphagia1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1627400644313700
HP:0002015HP:0002015Dysphagia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM19846618060300382
HP:0002015HP:0002015Dysphagia1ASPA CL E G H443314911ORPHA1102177756608034
HP:0002015HP:0002015Dysphagia1ATP1A3 CL E G H47871517ORPHA1122407801182350
HP:0002015HP:0002015Dysphagia1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1122407801182350
HP:0002015HP:0002015Dysphagia1ATP7A CL E G H538198ORPHA1357607869300011
HP:0002015HP:0002015Dysphagia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM1938958870606882
HP:0002015HP:0002015Dysphagia1ATXN1 CL E G H631098755ORPHA176910548601556
HP:0002015HP:0002015Dysphagia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM176910548601556
HP:0002015HP:0002015Dysphagia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM147710549611150
HP:0002015HP:0002015Dysphagia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0002015HP:0002015Dysphagia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM13347106607047
HP:0002015HP:0002015Dysphagia1ATXN7 CL E G H631494147ORPHA163110560607640
HP:0002015HP:0002015Dysphagia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM163110560607640
HP:0002015HP:0002015Dysphagia1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM12232925613289
HP:0002015HP:0002015Dysphagia1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM156910561603680
HP:0002015HP:0002015Dysphagia1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM1684901097164757
HP:0002015HP:0002015Dysphagia1C19orf12 CL E G H83636289560ORPHA13820625443614297
HP:0002015HP:0002015Dysphagia1C9orf72 CL E G H203228275872ORPHA12415828337614260
HP:0002015HP:0002015Dysphagia1CACNA1A CL E G H77398758ORPHA125113931388601011
HP:0002015HP:0002015Dysphagia1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM125113931388601011
HP:0002015HP:0002015Dysphagia1CACNA1G CL E G H8913458803ORPHA1121671394604065
HP:0002015HP:0002015Dysphagia1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM185627089610859
HP:0002015HP:0002015Dysphagia1CAV1 CL E G H857220402ORPHA113621527601047
HP:0002015HP:0002015Dysphagia1CAV1 CL E G H857220393ORPHA113621527601047
HP:0002015HP:0002015Dysphagia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0002015HP:0002015Dysphagia1CCN2 CL E G H1490220402ORPHA1222500121009
HP:0002015HP:0002015Dysphagia1CCN2 CL E G H1490220393ORPHA1222500121009
HP:0002015HP:0002015Dysphagia1CCR6 CL E G H1235220402ORPHA11481607601835
HP:0002015HP:0002015Dysphagia1CCR6 CL E G H1235220393ORPHA11481607601835
HP:0002015HP:0002015Dysphagia1CDC73 CL E G H7957799880ORPHA110452616783607393
HP:0002015HP:0002015Dysphagia1CDC73 CL E G H79577143ORPHA110452616783607393
HP:0002015HP:0002015Dysphagia1CHAT CL E G H110398914ORPHA1773741912118490
HP:0002015HP:0002015Dysphagia1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1773741912118490
HP:0002015HP:0002015Dysphagia1CHCHD10 CL E G H400916275872ORPHA12716315559615903
HP:0002015HP:0002015Dysphagia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM12716315559615903
HP:0002015HP:0002015Dysphagia1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0002015HP:0002015Dysphagia1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM1229624537609512
HP:0002015HP:0002015Dysphagia1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1362361955100690
HP:0002015HP:0002015Dysphagia1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1362361955100690
HP:0002015HP:0002015Dysphagia1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM1262531965100720
HP:0002015HP:0002015Dysphagia1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM1262531965100720
HP:0002015HP:0002015Dysphagia1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11383871966100725
HP:0002015HP:0002015Dysphagia1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11383871966100725
HP:0002015HP:0002015Dysphagia1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM13175342019118425
HP:0002015HP:0002015Dysphagia1COL13A1 CL E G H130598914ORPHA13682190120350
HP:0002015HP:0002015Dysphagia1COL7A1 CL E G H129479408ORPHA18286912214120120
HP:0002015HP:0002015Dysphagia1COL7A1 CL E G H129479409ORPHA18286912214120120
HP:0002015HP:0002015Dysphagia1COL7A1 CL E G H129489842ORPHA18286912214120120
HP:0002015HP:0002015Dysphagia1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0002015HP:0002015Dysphagia1COLQ CL E G H829298915ORPHA1702622226603033
HP:0002015HP:0002015Dysphagia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1702622226603033
HP:0002015HP:0002015Dysphagia1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM11613419693612898
HP:0002015HP:0002015Dysphagia1CRYAB CL E G H1410399058ORPHA1301342389123590
HP:0002015HP:0002015Dysphagia1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11604182518606272
HP:0002015HP:0002015Dysphagia1DDHD2 CL E G H23259320380ORPHA11915229106615003
HP:0002015HP:0002015Dysphagia1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM11915229106615003
HP:0002015HP:0002015Dysphagia1DGUOK CL E G H1716329314ORPHA1641222858601465
HP:0002015HP:0002015Dysphagia1DKK1 CL E G H22943268882ORPHA14222891605189
HP:0002015HP:0002015Dysphagia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182332933605377
HP:0002015HP:0002015Dysphagia1DNAJB6 CL E G H1004934516ORPHA11829614888611332
HP:0002015HP:0002015Dysphagia1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM11829614888611332
HP:0002015HP:0002015Dysphagia1DNAJC13 CL E G H23317411602ORPHA1165130343614334
HP:0002015HP:0002015Dysphagia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0002015HP:0002015Dysphagia1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA166433153602201
HP:0002015HP:0002015Dysphagia1EIF4G1 CL E G H1981411602ORPHA120523296600495
HP:0002015HP:0002015Dysphagia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0002015HP:0002015Dysphagia1ERLIN2 CL E G H11160247604ORPHA1151031356611605
HP:0002015HP:0002015Dysphagia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0002015HP:0002015Dysphagia1FBXO7 CL E G H25793171695ORPHA11710913586605648
HP:0002015HP:0002015Dysphagia1FERMT1 CL E G H556122908ORPHA18322515889607900
HP:0002015HP:0002015Dysphagia1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM1105224671610595
HP:0002015HP:0002015Dysphagia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM164913999134790
HP:0002015HP:0002015Dysphagia1FUS CL E G H2521275872ORPHA11132644010137070
HP:0002015HP:0002015Dysphagia1GABRD CL E G H25631606ORPHA172784084137163
HP:0002015HP:0002015Dysphagia1GBA CL E G H262977260ORPHA14942064177606463
HP:0002015HP:0002015Dysphagia1GBA CL E G H2629411602ORPHA14942064177606463
HP:0002015HP:0002015Dysphagia1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0002015HP:0002015Dysphagia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0002015HP:0002015Dysphagia1GBA2 CL E G H57704352641ORPHA12319418986609471
HP:0002015HP:0002015Dysphagia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522084193600225
HP:0002015HP:0002015Dysphagia1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM1512815717606969
HP:0002015HP:0002015Dysphagia1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1502924241138292
HP:0002015HP:0002015Dysphagia1GIGYF2 CL E G H26058411602ORPHA13612611960612003
HP:0002015HP:0002015Dysphagia1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM14996684283304040
HP:0002015HP:0002015Dysphagia1GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM1127422923615495
HP:0002015HP:0002015Dysphagia1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0002015HP:0002015Dysphagia1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM12774588602717
HP:0002015HP:0002015Dysphagia1GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM119614685139396
HP:0002015HP:0002015Dysphagia1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0002015HP:0002015Dysphagia1HLA-B CL E G H310636426ORPHA153174932142830
HP:0002015HP:0002015Dysphagia1HLA-DRB1 CL E G H3123220402ORPHA126194948142857
HP:0002015HP:0002015Dysphagia1HLA-DRB1 CL E G H3123220393ORPHA126194948142857
HP:0002015HP:0002015Dysphagia1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM16275111142968
HP:0002015HP:0002015Dysphagia1HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM16195144142622
HP:0002015HP:0002015Dysphagia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM14282725157308000
HP:0002015HP:0002015Dysphagia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM181274851613004
HP:0002015HP:0002015Dysphagia1IKZF1 CL E G H1032036426ORPHA1384213176603023
HP:0002015HP:0002015Dysphagia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM1114514282611720
HP:0002015HP:0002015Dysphagia1IRF5 CL E G H3663220402ORPHA110386120607218
HP:0002015HP:0002015Dysphagia1IRF5 CL E G H3663220393ORPHA110386120607218
HP:0002015HP:0002015Dysphagia1ITGB4 CL E G H3691158684ORPHA1992926158147557
HP:0002015HP:0002015Dysphagia1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17622817582605880
HP:0002015HP:0002015Dysphagia1KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0002015HP:0002015Dysphagia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM1291686239605411
HP:0002015HP:0002015Dysphagia1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM12656283605874
HP:0002015HP:0002015Dysphagia1KIAA0319L CL E G H79932220402ORPHA12830071613535
HP:0002015HP:0002015Dysphagia1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM1692496323602821
HP:0002015HP:0002015Dysphagia1KIT CL E G H381544890ORPHA112111046342164920
HP:0002015HP:0002015Dysphagia1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM112111046342164920
HP:0002015HP:0002015Dysphagia1KLHL40 CL E G H131377171430ORPHA12619030372615340
HP:0002015HP:0002015Dysphagia1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM12619030372615340
HP:0002015HP:0002015Dysphagia1KLHL41 CL E G H10324171430ORPHA199816905607701
HP:0002015HP:0002015Dysphagia1KLHL41 CL E G H10324171433ORPHA199816905607701
HP:0002015HP:0002015Dysphagia1KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM11412715646611119
HP:0002015HP:0002015Dysphagia1KMT2A CL E G H4297319182ORPHA11273797132159555
HP:0002015HP:0002015Dysphagia1LAMB2 CL E G H391398915ORPHA11273686487150325
HP:0002015HP:0002015Dysphagia1LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA1281726518600024
HP:0002015HP:0002015Dysphagia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1323466597151443
HP:0002015HP:0002015Dysphagia1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM133021205609791
HP:0002015HP:0002015Dysphagia1LMOD3 CL E G H56203171430ORPHA1181686649616112
HP:0002015HP:0002015Dysphagia1LRRK2 CL E G H120892411602ORPHA113838818618609007
HP:0002015HP:0002015Dysphagia1MAP2K2 CL E G H5605638ORPHA1353386842601263
HP:0002015HP:0002015Dysphagia1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM11203796893157140
HP:0002015HP:0002015Dysphagia1MATR3 CL E G H9782600ORPHA1161936912164015
HP:0002015HP:0002015Dysphagia1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM1161936912164015
HP:0002015HP:0002015Dysphagia1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0002015HP:0002015Dysphagia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM163219691608205
HP:0002015HP:0002015Dysphagia1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14792375603810
HP:0002015HP:0002015Dysphagia1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM11949529634612453
HP:0002015HP:0002015Dysphagia1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM146424858614785
HP:0002015HP:0002015Dysphagia1MGME1 CL E G H92667352447ORPHA174616205615076
HP:0002015HP:0002015Dysphagia1MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM1982897095300552
HP:0002015HP:0002015Dysphagia1MMP1 CL E G H431279408ORPHA18337155120353
HP:0002015HP:0002015Dysphagia1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM12464447225159440
HP:0002015HP:0002015Dysphagia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002015HP:0002015Dysphagia1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1100224407577160760
HP:0002015HP:0002015Dysphagia1MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM132257578160741
HP:0002015HP:0002015Dysphagia1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0002015HP:0002015Dysphagia1MYO9A CL E G H464998914ORPHA16957608604875
HP:0002015HP:0002015Dysphagia1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM16957608604875
HP:0002015HP:0002015Dysphagia1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM11618812399604103
HP:0002015HP:0002015Dysphagia1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM13407690602138
HP:0002015HP:0002015Dysphagia1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM188728086609653
HP:0002015HP:0002015Dysphagia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1281927707157655
HP:0002015HP:0002015Dysphagia1NEB CL E G H4703171430ORPHA132130107720161650
HP:0002015HP:0002015Dysphagia1NEB CL E G H4703171433ORPHA132130107720161650
HP:0002015HP:0002015Dysphagia1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132130107720161650
HP:0002015HP:0002015Dysphagia1NF1 CL E G H4763638ORPHA1301164917765613113
HP:0002015HP:0002015Dysphagia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM14787167897607623
HP:0002015HP:0002015Dysphagia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM1277814537601015
HP:0002015HP:0002015Dysphagia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM123797981601828
HP:0002015HP:0002015Dysphagia1NUP62 CL E G H23636225154ORPHA11418066605815
HP:0002015HP:0002015Dysphagia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11418066605815
HP:0002015HP:0002015Dysphagia1OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM17215817142602432
HP:0002015HP:0002015Dysphagia1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM123358565602279
HP:0002015HP:0002015Dysphagia1PANK2 CL E G H80025216866ORPHA118219215894606157
HP:0002015HP:0002015Dysphagia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM118219215894606157
HP:0002015HP:0002015Dysphagia1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM118219215894606157
HP:0002015HP:0002015Dysphagia1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM11408729176740
HP:0002015HP:0002015Dysphagia1PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA1111348794603390
HP:0002015HP:0002015Dysphagia1PDGFRA CL E G H515644890ORPHA12812488803173490
HP:0002015HP:0002015Dysphagia1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM12812488803173490
HP:0002015HP:0002015Dysphagia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM13729279605993
HP:0002015HP:0002015Dysphagia1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0002015HP:0002015Dysphagia1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM19468881176610
HP:0002015HP:0002015Dysphagia1PLA2G6 CL E G H8398199351ORPHA11792899039603604
HP:0002015HP:0002015Dysphagia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM11792899039603604
HP:0002015HP:0002015Dysphagia1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0002015HP:0002015Dysphagia1PLEC CL E G H5339158684ORPHA110427619069601282
HP:0002015HP:0002015Dysphagia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13523009086300401
HP:0002015HP:0002015Dysphagia1PLXND1 CL E G H23129570ORPHA181049107604282
HP:0002015HP:0002015Dysphagia1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM152339153609023
HP:0002015HP:0002015Dysphagia1POLG CL E G H5428254886ORPHA130011969179174763
HP:0002015HP:0002015Dysphagia1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130011969179174763
HP:0002015HP:0002015Dysphagia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM130011969179174763
HP:0002015HP:0002015Dysphagia1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130011969179174763
HP:0002015HP:0002015Dysphagia1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA130011969179174763
HP:0002015HP:0002015Dysphagia1POLR3A CL E G H11128447896ORPHA19230630074614258
HP:0002015HP:0002015Dysphagia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM19230630074614258
HP:0002015HP:0002015Dysphagia1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0002015HP:0002015Dysphagia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM15812730348614366
HP:0002015HP:0002015Dysphagia1PRDM16 CL E G H639761606ORPHA12167714000605557
HP:0002015HP:0002015Dysphagia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM1521859402176980
HP:0002015HP:0002015Dysphagia1PRKRA CL E G H8575210571ORPHA1111029438603424
HP:0002015HP:0002015Dysphagia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM1111029438603424
HP:0002015HP:0002015Dysphagia1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11091269449176640
HP:0002015HP:0002015Dysphagia1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322599462311850
HP:0002015HP:0002015Dysphagia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM1272209498176801
HP:0002015HP:0002015Dysphagia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM13203699508104311
HP:0002015HP:0002015Dysphagia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM1112989689612719
HP:0002015HP:0002015Dysphagia1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM168326162617220
HP:0002015HP:0002015Dysphagia1QDPR CL E G H5860226ORPHA1671259752612676
HP:0002015HP:0002015Dysphagia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM1671259752612676
HP:0002015HP:0002015Dysphagia1RERE CL E G H4731606ORPHA1251619965605226
HP:0002015HP:0002015Dysphagia1REV3L CL E G H5980570ORPHA191249968602776
HP:0002015HP:0002015Dysphagia1RHBDF2 CL E G H796512198ORPHA1414220788614404
HP:0002015HP:0002015Dysphagia1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0002015HP:0002015Dysphagia1RNASEH1 CL E G H246243329336ORPHA146518466604123
HP:0002015HP:0002015Dysphagia1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM146518466604123
HP:0002015HP:0002015Dysphagia1RRM2B CL E G H50484329336ORPHA14321617296604712
HP:0002015HP:0002015Dysphagia1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14321617296604712
HP:0002015HP:0002015Dysphagia1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1688309410483180901
HP:0002015HP:0002015Dysphagia1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM1272291665602257
HP:0002015HP:0002015Dysphagia1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM11942210590182391
HP:0002015HP:0002015Dysphagia1SCN4A CL E G H6329684ORPHA112984810591603967
HP:0002015HP:0002015Dysphagia1SCN4A CL E G H632999734ORPHA112984810591603967
HP:0002015HP:0002015Dysphagia1SDHA CL E G H638944890ORPHA191127910680600857
HP:0002015HP:0002015Dysphagia1SDHB CL E G H639097286ORPHA127966710681185470
HP:0002015HP:0002015Dysphagia1SDHB CL E G H639044890ORPHA127966710681185470
HP:0002015HP:0002015Dysphagia1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM127966710681185470
HP:0002015HP:0002015Dysphagia1SDHC CL E G H639144890ORPHA16241510682602413
HP:0002015HP:0002015Dysphagia1SDHC CL E G H639197286ORPHA16241510682602413
HP:0002015HP:0002015Dysphagia1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM16241510682602413
HP:0002015HP:0002015Dysphagia1SDHD CL E G H639297286ORPHA117436110683602690
HP:0002015HP:0002015Dysphagia1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM16335415999606210
HP:0002015HP:0002015Dysphagia1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0002015HP:0002015Dysphagia1SERPING1 CL E G H710100050ORPHA15671881228606860
HP:0002015HP:0002015Dysphagia1SIK1 CL E G H1500941935ORPHA1741411142605705
HP:0002015HP:0002015Dysphagia1SKI CL E G H64971606ORPHA12450210896164780
HP:0002015HP:0002015Dysphagia1SLC18A3 CL E G H657298914ORPHA168910936600336
HP:0002015HP:0002015Dysphagia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM13831816266606152
HP:0002015HP:0002015Dysphagia1SLC25A1 CL E G H657698914ORPHA12442910979190315
HP:0002015HP:0002015Dysphagia1SLC25A22 CL E G H797511935ORPHA11031719954609302
HP:0002015HP:0002015Dysphagia1SLC52A2 CL E G H7958197229ORPHA12726030224607882
HP:0002015HP:0002015Dysphagia1SLC52A3 CL E G H11327897229ORPHA14424316187613350
HP:0002015HP:0002015Dysphagia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM14424316187613350
HP:0002015HP:0002015Dysphagia1SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM14424316187613350
HP:0002015HP:0002015Dysphagia1SLC5A7 CL E G H6048298914ORPHA12016914025608761
HP:0002015HP:0002015Dysphagia1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM12016914025608761
HP:0002015HP:0002015Dysphagia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM135411056601019
HP:0002015HP:0002015Dysphagia1SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0002015HP:0002015Dysphagia1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0002015HP:0002015Dysphagia1SMC1A CL E G H8243319182ORPHA110048411111300040
HP:0002015HP:0002015Dysphagia1SNAP25 CL E G H661698914ORPHA176411132600322
HP:0002015HP:0002015Dysphagia1SNCA CL E G H6622411602ORPHA13713011138163890
HP:0002015HP:0002015Dysphagia1SNCA CL E G H6622171695ORPHA13713011138163890
HP:0002015HP:0002015Dysphagia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM13713011138163890
HP:0002015HP:0002015Dysphagia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM1611511139603779
HP:0002015HP:0002015Dysphagia1SPART CL E G H23111101000ORPHA1718318514607111
HP:0002015HP:0002015Dysphagia1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0002015HP:0002015Dysphagia1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1293106511226610844
HP:0002015HP:0002015Dysphagia1SPG21 CL E G H51324101001ORPHA137920373608181
HP:0002015HP:0002015Dysphagia1SPG7 CL E G H668735689ORPHA111146011237602783
HP:0002015HP:0002015Dysphagia1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM111146011237602783
HP:0002015HP:0002015Dysphagia1SQSTM1 CL E G H8878275872ORPHA19826711280601530
HP:0002015HP:0002015Dysphagia1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM19826711280601530
HP:0002015HP:0002015Dysphagia1SYT14 CL E G H255928284271ORPHA135623143610949
HP:0002015HP:0002015Dysphagia1SYT2 CL E G H12783398914ORPHA133911510600104
HP:0002015HP:0002015Dysphagia1TARDBP CL E G H23435275872ORPHA17018411571605078
HP:0002015HP:0002015Dysphagia1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM17018411571605078
HP:0002015HP:0002015Dysphagia1TBK1 CL E G H29110275872ORPHA113711811584604834
HP:0002015HP:0002015Dysphagia1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM113711811584604834
HP:0002015HP:0002015Dysphagia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM1189111588600075
HP:0002015HP:0002015Dysphagia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0002015HP:0002015Dysphagia1TK2 CL E G H7084254886ORPHA16020611831188250
HP:0002015HP:0002015Dysphagia1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM16020611831188250
HP:0002015HP:0002015Dysphagia1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM14019912011190990
HP:0002015HP:0002015Dysphagia1TPM3 CL E G H7170171433ORPHA12822512012191030
HP:0002015HP:0002015Dysphagia1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM12822512012191030
HP:0002015HP:0002015Dysphagia1TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM12822512012191030
HP:0002015HP:0002015Dysphagia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM134824284614139
HP:0002015HP:0002015Dysphagia1TTBK2 CL E G H14605798767ORPHA11115419141611695
HP:0002015HP:0002015Dysphagia1TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM14213920774602662
HP:0002015HP:0002015Dysphagia1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM1831941160606075
HP:0002015HP:0002015Dysphagia1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1953813148131222
HP:0002015HP:0002015Dysphagia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM13118712509300264
HP:0002015HP:0002015Dysphagia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM132312511600673
HP:0002015HP:0002015Dysphagia1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM177725507604632
HP:0002015HP:0002015Dysphagia1VAMP1 CL E G H684398914ORPHA166412642185880
HP:0002015HP:0002015Dysphagia1VAMP1 CL E G H6843251282ORPHA166412642185880
HP:0002015HP:0002015Dysphagia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM166412642185880
HP:0002015HP:0002015Dysphagia1VCP CL E G H7415275872ORPHA16526012666601023
HP:0002015HP:0002015Dysphagia1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM11165061908605978
HP:0002015HP:0002015Dysphagia1VPS35 CL E G H55737411602ORPHA12311713487601501
HP:0002015HP:0002015Dysphagia1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM139371412762606201
HP:0002015HP:0002015Dysphagia1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM11320324249610957
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002015HP:0002015Dysphagia0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA013472121316611192
HP:0002015HP:0002015Dysphagia0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM053824268614215
HP:0002015HP:0002015Dysphagia0ATP13A2 CL E G H23400306674ORPHA04436530213610513
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H4781171ORPHA0122407801182350
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H4287276241ORPHA03347106607047
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H4287276238ORPHA03347106607047
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H4287276244ORPHA03347106607047
HP:0002015HP:0002015Dysphagia0ATXN8 CL E G H72406698760ORPHA02232925613289
HP:0002015HP:0002015Dysphagia0ATXN8OS CL E G H631598760ORPHA056910561603680
HP:0002015HP:0002015Dysphagia0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM0121671394604065
HP:0002015HP:0002015Dysphagia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM031068740164010
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H1294231568ORPHA08286912214120120
HP:0002015HP:0002015Dysphagia0CYP7B1 CL E G H9420100986ORPHA0631992652603711
HP:0002015HP:0002015Dysphagia0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM02482661603448
HP:0002015HP:0002015Dysphagia0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM0641222858601465
HP:0002015HP:0002015Dysphagia0FMR1 CL E G H233293256ORPHA0812813775309550
HP:0002015HP:0002015Dysphagia0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM021193954601278
HP:0002015HP:0002015Dysphagia0FTL CL E G H2512157846ORPHA064913999134790
HP:0002015HP:0002015Dysphagia0FXN CL E G H239595ORPHA0661013951606829
HP:0002015HP:0002015Dysphagia0GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0002015HP:0002015Dysphagia0GRHL2 CL E G H79977616029Ectodermal dysplasia/short stature syndrome616029C4014987OMIM013962799608576
HP:0002015HP:0002015Dysphagia0IDH1 CL E G H3417163634ORPHA05535382147700
HP:0002015HP:0002015Dysphagia0IDH2 CL E G H3418163634ORPHA071025383147650
HP:0002015HP:0002015Dysphagia0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM064014361606195
HP:0002015HP:0002015Dysphagia0KCNC3 CL E G H374898768ORPHA012946235176264
HP:0002015HP:0002015Dysphagia0KY CL E G H339855496689ORPHA033926576605739
HP:0002015HP:0002015Dysphagia0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA038014996482156225
HP:0002015HP:0002015Dysphagia0LMNB1 CL E G H400199027ORPHA0351026637150340
HP:0002015HP:0002015Dysphagia0MYOT CL E G H9499266ORPHA01618812399604103
HP:0002015HP:0002015Dysphagia0NOP56 CL E G H10528276198ORPHA014115911614154
HP:0002015HP:0002015Dysphagia0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM014115911614154
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H80025216873ORPHA018219215894606157
HP:0002015HP:0002015Dysphagia0PIGA CL E G H5277447ORPHA0293208957311770
HP:0002015HP:0002015Dysphagia0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0002015HP:0002015Dysphagia0PIK3R5 CL E G H2353364753ORPHA023930035611317
HP:0002015HP:0002015Dysphagia0PLEC CL E G H5339254361ORPHA010427619069601282
HP:0002015HP:0002015Dysphagia0POLG CL E G H5428254892ORPHA030011969179174763
HP:0002015HP:0002015Dysphagia0POLG2 CL E G H11232254892ORPHA0141019180604983
HP:0002015HP:0002015Dysphagia0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM05812730348614366
HP:0002015HP:0002015Dysphagia0PTS CL E G H580513Brain malformationC0266449ORPHA0112989689612719
HP:0002015HP:0002015Dysphagia0PUF60 CL E G H22827508488ORPHA03212917042604819
HP:0002015HP:0002015Dysphagia0REEP1 CL E G H65055101011ORPHA06122725786609139
HP:0002015HP:0002015Dysphagia0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM06122725786609139
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H50484254892ORPHA04321617296604712
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM04321617296604712
HP:0002015HP:0002015Dysphagia0SACS CL E G H2627898ORPHA0264119110519604490
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H632999736ORPHA012984810591603967
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H632999735ORPHA012984810591603967
HP:0002015HP:0002015Dysphagia0SETBP1 CL E G H26040798ORPHA04721215573611060
HP:0002015HP:0002015Dysphagia0SETX CL E G H2306464753ORPHA0216651445608465
HP:0002015HP:0002015Dysphagia0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM0216651445608465
HP:0002015HP:0002015Dysphagia0SLC25A4 CL E G H291254892ORPHA01723410990103220
HP:0002015HP:0002015Dysphagia0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM02726030224607882
HP:0002015HP:0002015Dysphagia0SON CL E G H6651500150ORPHA02822411183182465
HP:0002015HP:0002015Dysphagia0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM037920373608181
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H668799013ORPHA011146011237602783
HP:0002015HP:0002015Dysphagia0STUB1 CL E G H10273412057ORPHA03110511427607207
HP:0002015HP:0002015Dysphagia0SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM035623143610949
HP:0002015HP:0002015Dysphagia0TK2 CL E G H7084254875ORPHA06020611831188250
HP:0002015HP:0002015Dysphagia0TRIP4 CL E G H9325616866Spinal muscular atrophy with congenital bone fractures 1616866C4225177OMIM034812310604501
HP:0002015HP:0002015Dysphagia0TUBB4A CL E G H1038298805ORPHA04213920774602662
HP:0002015HP:0002015Dysphagia0TWNK CL E G H56652254892ORPHA0831941160606075
HP:0002015HP:0002015Dysphagia0VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM01022912649605704
HP:0002015HP:0002015Dysphagia1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA013472121316611192
HP:0002015HP:0002015Dysphagia1ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM053824268614215
HP:0002015HP:0002015Dysphagia1ATP13A2 CL E G H23400306674ORPHA04436530213610513
HP:0002015HP:0002015Dysphagia1ATP1A3 CL E G H4781171ORPHA0122407801182350
HP:0002015HP:0002015Dysphagia1ATXN3 CL E G H4287276238ORPHA03347106607047
HP:0002015HP:0002015Dysphagia1ATXN3 CL E G H4287276244ORPHA03347106607047
HP:0002015HP:0002015Dysphagia1ATXN3 CL E G H4287276241ORPHA03347106607047
HP:0002015HP:0002015Dysphagia1ATXN8 CL E G H72406698760ORPHA02232925613289
HP:0002015HP:0002015Dysphagia1ATXN8OS CL E G H631598760ORPHA056910561603680
HP:0002015HP:0002015Dysphagia1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM0121671394604065
HP:0002015HP:0002015Dysphagia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM031068740164010
HP:0002015HP:0002015Dysphagia1COL7A1 CL E G H1294231568ORPHA08286912214120120
HP:0002015HP:0002015Dysphagia1CYP7B1 CL E G H9420100986ORPHA0631992652603711
HP:0002015HP:0002015Dysphagia1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM02482661603448
HP:0002015HP:0002015Dysphagia1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM0641222858601465
HP:0002015HP:0002015Dysphagia1FMR1 CL E G H233293256ORPHA0812813775309550
HP:0002015HP:0002015Dysphagia1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM021193954601278
HP:0002015HP:0002015Dysphagia1FTL CL E G H2512157846ORPHA064913999134790
HP:0002015HP:0002015Dysphagia1FXN CL E G H239595ORPHA0661013951606829
HP:0002015HP:0002015Dysphagia1GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0002015HP:0002015Dysphagia1GRHL2 CL E G H79977616029Ectodermal dysplasia/short stature syndrome616029C4014987OMIM013962799608576
HP:0002015HP:0002015Dysphagia1IDH1 CL E G H3417163634ORPHA05535382147700
HP:0002015HP:0002015Dysphagia1IDH2 CL E G H3418163634ORPHA071025383147650
HP:0002015HP:0002015Dysphagia1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM064014361606195
HP:0002015HP:0002015Dysphagia1KCNC3 CL E G H374898768ORPHA012946235176264
HP:0002015HP:0002015Dysphagia1KY CL E G H339855496689ORPHA033926576605739
HP:0002015HP:0002015Dysphagia1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA038014996482156225
HP:0002015HP:0002015Dysphagia1LMNB1 CL E G H400199027ORPHA0351026637150340
HP:0002015HP:0002015Dysphagia1MYOT CL E G H9499266ORPHA01618812399604103
HP:0002015HP:0002015Dysphagia1NOP56 CL E G H10528276198ORPHA014115911614154
HP:0002015HP:0002015Dysphagia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM014115911614154
HP:0002015HP:0002015Dysphagia1PANK2 CL E G H80025216873ORPHA018219215894606157
HP:0002015HP:0002015Dysphagia1PIGA CL E G H5277447ORPHA0293208957311770
HP:0002015HP:0002015Dysphagia1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0002015HP:0002015Dysphagia1PIK3R5 CL E G H2353364753ORPHA023930035611317
HP:0002015HP:0002015Dysphagia1PLEC CL E G H5339254361ORPHA010427619069601282
HP:0002015HP:0002015Dysphagia1POLG CL E G H5428254892ORPHA030011969179174763
HP:0002015HP:0002015Dysphagia1POLG2 CL E G H11232254892ORPHA0141019180604983
HP:0002015HP:0002015Dysphagia1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM05812730348614366
HP:0002015HP:0002015Dysphagia1PTS CL E G H580513Brain malformationC0266449ORPHA0112989689612719
HP:0002015HP:0002015Dysphagia1PUF60 CL E G H22827508488ORPHA03212917042604819
HP:0002015HP:0002015Dysphagia1REEP1 CL E G H65055101011ORPHA06122725786609139
HP:0002015HP:0002015Dysphagia1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM06122725786609139
HP:0002015HP:0002015Dysphagia1RRM2B CL E G H50484254892ORPHA04321617296604712
HP:0002015HP:0002015Dysphagia1RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM04321617296604712
HP:0002015HP:0002015Dysphagia1SACS CL E G H2627898ORPHA0264119110519604490
HP:0002015HP:0002015Dysphagia1SCN4A CL E G H632999736ORPHA012984810591603967
HP:0002015HP:0002015Dysphagia1SCN4A CL E G H632999735ORPHA012984810591603967
HP:0002015HP:0002015Dysphagia1SETBP1 CL E G H26040798ORPHA04721215573611060
HP:0002015HP:0002015Dysphagia1SETX CL E G H2306464753ORPHA0216651445608465
HP:0002015HP:0002015Dysphagia1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM0216651445608465
HP:0002015HP:0002015Dysphagia1SLC25A4 CL E G H291254892ORPHA01723410990103220
HP:0002015HP:0002015Dysphagia1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM02726030224607882
HP:0002015HP:0002015Dysphagia1SON CL E G H6651500150ORPHA02822411183182465
HP:0002015HP:0002015Dysphagia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM037920373608181