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:
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002015HP:0002015Dysphagia0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0002015HP:0002015Dysphagia0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0002015HP:0002015Dysphagia0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0002015HP:0002015Dysphagia0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0002015HP:0002015Dysphagia0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent96
HP:0002015HP:0002015Dysphagia0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040281 - Very frequent72
HP:0002015HP:0002015Dysphagia0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0002015HP:0002015Dysphagia0ACTG2 CL E G H72145OMIM:155310Visceral myopathy 1.23
HP:0002015HP:0002015Dysphagia0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0002015HP:0002015Dysphagia0ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 82
HP:0002015HP:0002015Dysphagia0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0002015HP:0002015Dysphagia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0002015HP:0002015Dysphagia0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0002015HP:0002015Dysphagia0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0002015HP:0002015Dysphagia0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0002015HP:0002015Dysphagia0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0002015HP:0002015Dysphagia0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0002015HP:0002015Dysphagia0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0002015HP:0002015Dysphagia0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosisHP:0040282 - Frequent114
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0002015HP:0002015Dysphagia0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0002015HP:0002015Dysphagia0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0002015HP:0002015Dysphagia0ANXA11 CL E G H311535OMIM:617839Amyotrophic lateral sclerosis 23
HP:0002015HP:0002015Dysphagia0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0002015HP:0002015Dysphagia0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0002015HP:0002015Dysphagia0APP CL E G H351620ORPHA:324708ABeta amyloidosis, Iowa typeHP:0040281 - Very frequent74
HP:0002015HP:0002015Dysphagia0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0002015HP:0002015Dysphagia0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palate6
HP:0002015HP:0002015Dysphagia0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1.166
HP:0002015HP:0002015Dysphagia0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0002015HP:0002015Dysphagia0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040284 - Very rare78
HP:0002015HP:0002015Dysphagia0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0002015HP:0002015Dysphagia0ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0002015HP:0002015Dysphagia0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002015HP:0002015Dysphagia0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0002015HP:0002015Dysphagia0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0002015HP:0002015Dysphagia0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0002015HP:0002015Dysphagia0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H478801ORPHA:1171Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeHP:0040283 - Occasional150
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0002015HP:0002015Dysphagia0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0002015HP:0002015Dysphagia0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0002015HP:0002015Dysphagia0ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0002015HP:0002015Dysphagia0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0002015HP:0002015Dysphagia0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0002015HP:0002015Dysphagia0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0002015HP:0002015Dysphagia0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0002015HP:0002015Dysphagia0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040283 - Occasional14
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040283 - Occasional14
HP:0002015HP:0002015Dysphagia0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040283 - Occasional14
HP:0002015HP:0002015Dysphagia0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8
HP:0002015HP:0002015Dysphagia0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040281 - Very frequent8
HP:0002015HP:0002015Dysphagia0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0002015HP:0002015Dysphagia0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040283 - Occasional1
HP:0002015HP:0002015Dysphagia0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0002015HP:0002015Dysphagia0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0002015HP:0002015Dysphagia0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040283 - Occasional1
HP:0002015HP:0002015Dysphagia0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 2625
HP:0002015HP:0002015Dysphagia0BAP1 CL E G H8314950ORPHA:50251Pleural mesotheliomaHP:0040283 - Occasional184
HP:0002015HP:0002015Dysphagia0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palate38
HP:0002015HP:0002015Dysphagia0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7.276
HP:0002015HP:0002015Dysphagia0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0002015HP:0002015Dysphagia0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0002015HP:0002015Dysphagia0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0002015HP:0002015Dysphagia0CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6.449
HP:0002015HP:0002015Dysphagia0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040282 - Frequent449
HP:0002015HP:0002015Dysphagia0CACNA1C CL E G H7751390OMIM:620029572
HP:0002015HP:0002015Dysphagia0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0002015HP:0002015Dysphagia0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040282 - Frequent32
HP:0002015HP:0002015Dysphagia0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0002015HP:0002015Dysphagia0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040283 - Occasional35
HP:0002015HP:0002015Dysphagia0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0002015HP:0002015Dysphagia0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent11
HP:0002015HP:0002015Dysphagia0CAV1 CL E G H8571527ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent11
HP:0002015HP:0002015Dysphagia0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0002015HP:0002015Dysphagia0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0002015HP:0002015Dysphagia0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0CCN2 CL E G H14902500ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0CCR6 CL E G H12351607ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040282 - Frequent169
HP:0002015HP:0002015Dysphagia0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040282 - Frequent169
HP:0002015HP:0002015Dysphagia0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palate1003
HP:0002015HP:0002015Dysphagia0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0002015HP:0002015Dysphagia0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0002015HP:0002015Dysphagia0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0002015HP:0002015Dysphagia0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0002015HP:0002015Dysphagia0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional200
HP:0002015HP:0002015Dysphagia0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0002015HP:0002015Dysphagia0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0002015HP:0002015Dysphagia0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0002015HP:0002015Dysphagia0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.11
HP:0002015HP:0002015Dysphagia0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0002015HP:0002015Dysphagia0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0002015HP:0002015Dysphagia0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0002015HP:0002015Dysphagia0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8HP:0040283 - Occasional19
HP:0002015HP:0002015Dysphagia0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel.74
HP:0002015HP:0002015Dysphagia0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0002015HP:0002015Dysphagia0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel.88
HP:0002015HP:0002015Dysphagia0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.88
HP:0002015HP:0002015Dysphagia0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0002015HP:0002015Dysphagia0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0002015HP:0002015Dysphagia0CLCN1 CL E G H11802019OMIM:255700Myotonia congenita, autosomal recessive.133
HP:0002015HP:0002015Dysphagia0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002015HP:0002015Dysphagia0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0002015HP:0002015Dysphagia0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 79
HP:0002015HP:0002015Dysphagia0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0002015HP:0002015Dysphagia0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040281 - Very frequent678
HP:0002015HP:0002015Dysphagia0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040281 - Very frequent18
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0002015HP:0002015Dysphagia0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0002015HP:0002015Dysphagia0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0002015HP:0002015Dysphagia0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0002015HP:0002015Dysphagia0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0002015HP:0002015Dysphagia0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0002015HP:0002015Dysphagia0COQ4 CL E G H5111719693OMIM:616276Coenzyme Q10 deficiency, primary, 7.24
HP:0002015HP:0002015Dysphagia0CRLF1 CL E G H92442364ORPHA:930Idiopathic achalasiaHP:0040281 - Very frequent24
HP:0002015HP:0002015Dysphagia0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040281 - Very frequent46
HP:0002015HP:0002015Dysphagia0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids149
HP:0002015HP:0002015Dysphagia0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0002015HP:0002015Dysphagia0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0002015HP:0002015Dysphagia0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0002015HP:0002015Dysphagia0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040284 - Very rare57
HP:0002015HP:0002015Dysphagia0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37HP:0040283 - Occasional4
HP:0002015HP:0002015Dysphagia0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0002015HP:0002015Dysphagia0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutationHP:0040283 - Occasional145
HP:0002015HP:0002015Dysphagia0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040282 - Frequent29
HP:0002015HP:0002015Dysphagia0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0002015HP:0002015Dysphagia0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040282 - Frequent57
HP:0002015HP:0002015Dysphagia0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4HP:0040283 - Occasional57
HP:0002015HP:0002015Dysphagia0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0002015HP:0002015Dysphagia0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0002015HP:0002015Dysphagia0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0002015HP:0002015Dysphagia0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0002015HP:0002015Dysphagia0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional22
HP:0002015HP:0002015Dysphagia0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palate
HP:0002015HP:0002015Dysphagia0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0002015HP:0002015Dysphagia0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0002015HP:0002015Dysphagia0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0002015HP:0002015Dysphagia0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0002015HP:0002015Dysphagia0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional3
HP:0002015HP:0002015Dysphagia0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palate1
HP:0002015HP:0002015Dysphagia0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0002015HP:0002015Dysphagia0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0002015HP:0002015Dysphagia0DNAJB6 CL E G H1004914888ORPHA:34516DNAJB6-related limb-girdle muscular dystrophy D1HP:0040282 - Frequent103
HP:0002015HP:0002015Dysphagia0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E.103
HP:0002015HP:0002015Dysphagia0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0002015HP:0002015Dysphagia0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002015HP:0002015Dysphagia0DTYMK CL E G H18413061OMIM:619847
HP:0002015HP:0002015Dysphagia0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0002015HP:0002015Dysphagia0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040284 - Very rare600
HP:0002015HP:0002015Dysphagia0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0002015HP:0002015Dysphagia0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040282 - Frequent14
HP:0002015HP:0002015Dysphagia0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0002015HP:0002015Dysphagia0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0002015HP:0002015Dysphagia0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0002015HP:0002015Dysphagia0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040283 - Occasional18
HP:0002015HP:0002015Dysphagia0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosisHP:0040282 - Frequent18
HP:0002015HP:0002015Dysphagia0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040283 - Occasional18
HP:0002015HP:0002015Dysphagia0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002015HP:0002015Dysphagia0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0002015HP:0002015Dysphagia0EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040284 - Very rare96
HP:0002015HP:0002015Dysphagia0EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040284 - Very rare102
HP:0002015HP:0002015Dysphagia0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040284 - Very rare76
HP:0002015HP:0002015Dysphagia0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0002015HP:0002015Dysphagia0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0002015HP:0002015Dysphagia0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002015HP:0002015Dysphagia0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0002015HP:0002015Dysphagia0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040282 - Frequent136
HP:0002015HP:0002015Dysphagia0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0002015HP:0002015Dysphagia0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0002015HP:0002015Dysphagia0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0002015HP:0002015Dysphagia0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0002015HP:0002015Dysphagia0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0002015HP:0002015Dysphagia0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0002015HP:0002015Dysphagia0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional17
HP:0002015HP:0002015Dysphagia0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0002015HP:0002015Dysphagia0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0002015HP:0002015Dysphagia0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0002015HP:0002015Dysphagia0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0002015HP:0002015Dysphagia0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyria111
HP:0002015HP:0002015Dysphagia0FLAD1 CL E G H8030824671OMIM:255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency.18
HP:0002015HP:0002015Dysphagia0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0002015HP:0002015Dysphagia0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040283 - Occasional30
HP:0002015HP:0002015Dysphagia0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0002015HP:0002015Dysphagia0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0002015HP:0002015Dysphagia0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0002015HP:0002015Dysphagia0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0002015HP:0002015Dysphagia0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional48
HP:0002015HP:0002015Dysphagia0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1HP:0040283 - Occasional1
HP:0002015HP:0002015Dysphagia0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0002015HP:0002015Dysphagia0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0002015HP:0002015Dysphagia0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0002015HP:0002015Dysphagia0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0002015HP:0002015Dysphagia0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0002015HP:0002015Dysphagia0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040283 - Occasional18
HP:0002015HP:0002015Dysphagia0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0002015HP:0002015Dysphagia0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0002015HP:0002015Dysphagia0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0002015HP:0002015Dysphagia0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional2
HP:0002015HP:0002015Dysphagia0GBA1 CL E G H26294177ORPHA:77260Gaucher disease type 2HP:0040281 - Very frequent
HP:0002015HP:0002015Dysphagia0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0002015HP:0002015Dysphagia0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0002015HP:0002015Dysphagia0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0002015HP:0002015Dysphagia0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040282 - Frequent30
HP:0002015HP:0002015Dysphagia0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040282 - Frequent115
HP:0002015HP:0002015Dysphagia0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0002015HP:0002015Dysphagia0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0002015HP:0002015Dysphagia0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0002015HP:0002015Dysphagia0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0002015HP:0002015Dysphagia0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0002015HP:0002015Dysphagia0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0002015HP:0002015Dysphagia0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0002015HP:0002015Dysphagia0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0002015HP:0002015Dysphagia0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1.107
HP:0002015HP:0002015Dysphagia0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0002015HP:0002015Dysphagia0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0002015HP:0002015Dysphagia0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0002015HP:0002015Dysphagia0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0002015HP:0002015Dysphagia0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0002015HP:0002015Dysphagia0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional173
HP:0002015HP:0002015Dysphagia0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0002015HP:0002015Dysphagia0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome.24
HP:0002015HP:0002015Dysphagia0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0002015HP:0002015Dysphagia0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0002015HP:0002015Dysphagia0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0002015HP:0002015Dysphagia0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002015HP:0002015Dysphagia0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0002015HP:0002015Dysphagia0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndromeHP:0040283 - Occasional33
HP:0002015HP:0002015Dysphagia0GRHL3 CL E G H5782225839ORPHA:99772Cleft velum12
HP:0002015HP:0002015Dysphagia0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0002015HP:0002015Dysphagia0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0002015HP:0002015Dysphagia0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0002015HP:0002015Dysphagia0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0002015HP:0002015Dysphagia0GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia.
HP:0002015HP:0002015Dysphagia0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A82
HP:0002015HP:0002015Dysphagia0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0002015HP:0002015Dysphagia0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0002015HP:0002015Dysphagia0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0002015HP:0002015Dysphagia0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040282 - Frequent4
HP:0002015HP:0002015Dysphagia0HLA-DQA1 CL E G H31174942ORPHA:930Idiopathic achalasiaHP:0040281 - Very frequent
HP:0002015HP:0002015Dysphagia0HLA-DQB1 CL E G H31194944ORPHA:930Idiopathic achalasiaHP:0040281 - Very frequent
HP:0002015HP:0002015Dysphagia0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0HLA-DRB1 CL E G H31234948ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0002015HP:0002015Dysphagia0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0002015HP:0002015Dysphagia0HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0002015HP:0002015Dysphagia0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0002015HP:0002015Dysphagia0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0002015HP:0002015Dysphagia0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0002015HP:0002015Dysphagia0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0002015HP:0002015Dysphagia0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0002015HP:0002015Dysphagia0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0002015HP:0002015Dysphagia0HTT CL E G H30644851ORPHA:399Huntington disease12
HP:0002015HP:0002015Dysphagia0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0002015HP:0002015Dysphagia0IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040283 - Occasional15
HP:0002015HP:0002015Dysphagia0IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040283 - Occasional29
HP:0002015HP:0002015Dysphagia0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040282 - Frequent8
HP:0002015HP:0002015Dysphagia0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002015HP:0002015Dysphagia0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0002015HP:0002015Dysphagia0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0002015HP:0002015Dysphagia0IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040282 - Frequent4
HP:0002015HP:0002015Dysphagia0IRF5 CL E G H36636120ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent4
HP:0002015HP:0002015Dysphagia0IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolusHP:0040283 - Occasional99
HP:0002015HP:0002015Dysphagia0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palate99
HP:0002015HP:0002015Dysphagia0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0002015HP:0002015Dysphagia0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0002015HP:0002015Dysphagia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0002015HP:0002015Dysphagia0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0002015HP:0002015Dysphagia0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional10
HP:0002015HP:0002015Dysphagia0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0002015HP:0002015Dysphagia0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0002015HP:0002015Dysphagia0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0002015HP:0002015Dysphagia0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0002015HP:0002015Dysphagia0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0002015HP:0002015Dysphagia0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0002015HP:0002015Dysphagia0KIAA0319L CL E G H7993230071ORPHA:220402Limited cutaneous systemic sclerosisHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0002015HP:0002015Dysphagia0KIT CL E G H38156342OMIM:606764Gastrointestinal stromal tumor.327
HP:0002015HP:0002015Dysphagia0KIT CL E G H38156342ORPHA:44890Gastrointestinal stromal tumorHP:0040282 - Frequent327
HP:0002015HP:0002015Dysphagia0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0002015HP:0002015Dysphagia0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent28
HP:0002015HP:0002015Dysphagia0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0002015HP:0002015Dysphagia0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0002015HP:0002015Dysphagia0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent13
HP:0002015HP:0002015Dysphagia0KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 3.42
HP:0002015HP:0002015Dysphagia0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0002015HP:0002015Dysphagia0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0002015HP:0002015Dysphagia0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040283 - Occasional3
HP:0002015HP:0002015Dysphagia0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0002015HP:0002015Dysphagia0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040283 - Occasional411
HP:0002015HP:0002015Dysphagia0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0002015HP:0002015Dysphagia0LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040282 - Frequent70
HP:0002015HP:0002015Dysphagia0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0002015HP:0002015Dysphagia0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0002015HP:0002015Dysphagia0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent1
HP:0002015HP:0002015Dysphagia0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0002015HP:0002015Dysphagia0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0002015HP:0002015Dysphagia0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent11
HP:0002015HP:0002015Dysphagia0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent165
HP:0002015HP:0002015Dysphagia0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0002015HP:0002015Dysphagia0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0002015HP:0002015Dysphagia0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0002015HP:0002015Dysphagia0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation.2
HP:0002015HP:0002015Dysphagia0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0002015HP:0002015Dysphagia0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0002015HP:0002015Dysphagia0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0002015HP:0002015Dysphagia0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040282 - Frequent178
HP:0002015HP:0002015Dysphagia0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0002015HP:0002015Dysphagia0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0002015HP:0002015Dysphagia0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040283 - Occasional140
HP:0002015HP:0002015Dysphagia0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndrome140
HP:0002015HP:0002015Dysphagia0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0002015HP:0002015Dysphagia0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0002015HP:0002015Dysphagia0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0002015HP:0002015Dysphagia0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0002015HP:0002015Dysphagia0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type.950
HP:0002015HP:0002015Dysphagia0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0002015HP:0002015Dysphagia0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0002015HP:0002015Dysphagia0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0002015HP:0002015Dysphagia0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0002015HP:0002015Dysphagia0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0002015HP:0002015Dysphagia0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0002015HP:0002015Dysphagia0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0002015HP:0002015Dysphagia0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0002015HP:0002015Dysphagia0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0002015HP:0002015Dysphagia0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0002015HP:0002015Dysphagia0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0002015HP:0002015Dysphagia0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0002015HP:0002015Dysphagia0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J.134
HP:0002015HP:0002015Dysphagia0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0002015HP:0002015Dysphagia0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0002015HP:0002015Dysphagia0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0002015HP:0002015Dysphagia0MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolusHP:0040283 - Occasional12
HP:0002015HP:0002015Dysphagia0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palate12
HP:0002015HP:0002015Dysphagia0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0002015HP:0002015Dysphagia0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0002015HP:0002015Dysphagia0MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002015HP:0002015Dysphagia0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegia105
HP:0002015HP:0002015Dysphagia0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0002015HP:0002015Dysphagia0MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 7.93
HP:0002015HP:0002015Dysphagia0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0002015HP:0002015Dysphagia0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0002015HP:0002015Dysphagia0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002015HP:0002015Dysphagia0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0002015HP:0002015Dysphagia0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0002015HP:0002015Dysphagia0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0002015HP:0002015Dysphagia0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040283 - Occasional75
HP:0002015HP:0002015Dysphagia0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0002015HP:0002015Dysphagia0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0002015HP:0002015Dysphagia0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0002015HP:0002015Dysphagia0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0002015HP:0002015Dysphagia0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional96
HP:0002015HP:0002015Dysphagia0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 33.1
HP:0002015HP:0002015Dysphagia0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0002015HP:0002015Dysphagia0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 10.26
HP:0002015HP:0002015Dysphagia0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0002015HP:0002015Dysphagia0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0002015HP:0002015Dysphagia0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0002015HP:0002015Dysphagia0NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 8.22
HP:0002015HP:0002015Dysphagia0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0002015HP:0002015Dysphagia0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0002015HP:0002015Dysphagia0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0002015HP:0002015Dysphagia0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent745
HP:0002015HP:0002015Dysphagia0NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolusHP:0040283 - Occasional4
HP:0002015HP:0002015Dysphagia0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palate4
HP:0002015HP:0002015Dysphagia0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0002015HP:0002015Dysphagia0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0002015HP:0002015Dysphagia0NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24.101
HP:0002015HP:0002015Dysphagia0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0002015HP:0002015Dysphagia0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0002015HP:0002015Dysphagia0NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040282 - Frequent1952
HP:0002015HP:0002015Dysphagia0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0002015HP:0002015Dysphagia0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0002015HP:0002015Dysphagia0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002015HP:0002015Dysphagia0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0002015HP:0002015Dysphagia0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0002015HP:0002015Dysphagia0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0002015HP:0002015Dysphagia0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0002015HP:0002015Dysphagia0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional45
HP:0002015HP:0002015Dysphagia0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0002015HP:0002015Dysphagia0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0002015HP:0002015Dysphagia0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0002015HP:0002015Dysphagia0NOS1 CL E G H48427872ORPHA:930Idiopathic achalasiaHP:0040281 - Very frequent2
HP:0002015HP:0002015Dysphagia0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0002015HP:0002015Dysphagia0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0002015HP:0002015Dysphagia0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0002015HP:0002015Dysphagia0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144
HP:0002015HP:0002015Dysphagia0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1.258
HP:0002015HP:0002015Dysphagia0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0002015HP:0002015Dysphagia0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0002015HP:0002015Dysphagia0NSRP1 CL E G H8408125305OMIM:620001
HP:0002015HP:0002015Dysphagia0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0002015HP:0002015Dysphagia0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0002015HP:0002015Dysphagia0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0002015HP:0002015Dysphagia0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002015HP:0002015Dysphagia0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0002015HP:0002015Dysphagia0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0002015HP:0002015Dysphagia0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002015HP:0002015Dysphagia0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 12.62
HP:0002015HP:0002015Dysphagia0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H8002515894OMIM:607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration.55
HP:0002015HP:0002015Dysphagia0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002015HP:0002015Dysphagia0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0002015HP:0002015Dysphagia0PCNA CL E G H51118729OMIM:615919Ataxia-Telangiectasia-Like disorder 2.1
HP:0002015HP:0002015Dysphagia0PDE8B CL E G H86228794ORPHA:228169Autosomal dominant striatal neurodegenerationHP:0040282 - Frequent75
HP:0002015HP:0002015Dysphagia0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palate337
HP:0002015HP:0002015Dysphagia0PDGFRA CL E G H51568803ORPHA:44890Gastrointestinal stromal tumorHP:0040282 - Frequent337
HP:0002015HP:0002015Dysphagia0PDP1 CL E G H547049279OMIM:608782Pyruvate dehydrogenase phosphatase deficiency.52
HP:0002015HP:0002015Dysphagia0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0002015HP:0002015Dysphagia0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0002015HP:0002015Dysphagia0PFN1 CL E G H52168881OMIM:614808AMYOTROPHIC LATERAL SCLEROSIS 18; ALS186
HP:0002015HP:0002015Dysphagia0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0002015HP:0002015Dysphagia0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002015HP:0002015Dysphagia0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040284 - Very rare46
HP:0002015HP:0002015Dysphagia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0002015HP:0002015Dysphagia0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0002015HP:0002015Dysphagia0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002015HP:0002015Dysphagia0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0002015HP:0002015Dysphagia0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0002015HP:0002015Dysphagia0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0002015HP:0002015Dysphagia0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0002015HP:0002015Dysphagia0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002015HP:0002015Dysphagia0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0002015HP:0002015Dysphagia0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0002015HP:0002015Dysphagia0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002015HP:0002015Dysphagia0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0002015HP:0002015Dysphagia0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)464
HP:0002015HP:0002015Dysphagia0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent464
HP:0002015HP:0002015Dysphagia0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0002015HP:0002015Dysphagia0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0002015HP:0002015Dysphagia0POLG CL E G H54289179ORPHA:94125Recessive mitochondrial ataxia syndromeHP:0040282 - Frequent464
HP:0002015HP:0002015Dysphagia0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002015HP:0002015Dysphagia0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0002015HP:0002015Dysphagia0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0002015HP:0002015Dysphagia0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0002015HP:0002015Dysphagia0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadismHP:0040283 - Occasional67
HP:0002015HP:0002015Dysphagia0PRDM13 CL E G H5933613998OMIM:6199092
HP:0002015HP:0002015Dysphagia0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0002015HP:0002015Dysphagia0PRDX3 CL E G H109359354OMIM:619862
HP:0002015HP:0002015Dysphagia0PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 14.83
HP:0002015HP:0002015Dysphagia0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0002015HP:0002015Dysphagia0PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0002015HP:0002015Dysphagia0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0002015HP:0002015Dysphagia0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0002015HP:0002015Dysphagia0PRPS1 CL E G H56319462OMIM:301835Arts syndrome.49
HP:0002015HP:0002015Dysphagia0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0002015HP:0002015Dysphagia0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0002015HP:0002015Dysphagia0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0002015HP:0002015Dysphagia0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0002015HP:0002015Dysphagia0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0002015HP:0002015Dysphagia0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0002015HP:0002015Dysphagia0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional665
HP:0002015HP:0002015Dysphagia0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0002015HP:0002015Dysphagia0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0002015HP:0002015Dysphagia0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0002015HP:0002015Dysphagia0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0002015HP:0002015Dysphagia0PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040284 - Very rare166
HP:0002015HP:0002015Dysphagia0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0002015HP:0002015Dysphagia0QDPR CL E G H58609752ORPHA:226Dihydropteridine reductase deficiencyHP:0040281 - Very frequent43
HP:0002015HP:0002015Dysphagia0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0002015HP:0002015Dysphagia0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0002015HP:0002015Dysphagia0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0002015HP:0002015Dysphagia0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040283 - Occasional87
HP:0002015HP:0002015Dysphagia0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominantHP:0040283 - Occasional87
HP:0002015HP:0002015Dysphagia0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional334
HP:0002015HP:0002015Dysphagia0REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7.
HP:0002015HP:0002015Dysphagia0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0002015HP:0002015Dysphagia0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0002015HP:0002015Dysphagia0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040282 - Frequent3
HP:0002015HP:0002015Dysphagia0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndromeHP:0040282 - Frequent80
HP:0002015HP:0002015Dysphagia0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0002015HP:0002015Dysphagia0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0002015HP:0002015Dysphagia0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent3
HP:0002015HP:0002015Dysphagia0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0002015HP:0002015Dysphagia0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent125
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent125
HP:0002015HP:0002015Dysphagia0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5HP:0040283 - Occasional125
HP:0002015HP:0002015Dysphagia0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0002015HP:0002015Dysphagia0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040283 - Occasional309
HP:0002015HP:0002015Dysphagia0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002015HP:0002015Dysphagia0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0002015HP:0002015Dysphagia0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0002015HP:0002015Dysphagia0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H632910591ORPHA:99736Acetazolamide-responsive myotoniaHP:0040283 - Occasional263
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H632910591ORPHA:99735Myotonia permanensHP:0040283 - Occasional263
HP:0002015HP:0002015Dysphagia0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040282 - Frequent263
HP:0002015HP:0002015Dysphagia0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0002015HP:0002015Dysphagia0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0002015HP:0002015Dysphagia0SDHA CL E G H638910680ORPHA:44890Gastrointestinal stromal tumorHP:0040282 - Frequent304
HP:0002015HP:0002015Dysphagia0SDHB CL E G H639010681ORPHA:97286Carney-Stratakis syndromeHP:0040282 - Frequent237
HP:0002015HP:0002015Dysphagia0SDHB CL E G H639010681ORPHA:44890Gastrointestinal stromal tumorHP:0040282 - Frequent237
HP:0002015HP:0002015Dysphagia0SDHB CL E G H639010681OMIM:606764Gastrointestinal stromal tumor.237
HP:0002015HP:0002015Dysphagia0SDHC CL E G H639110682ORPHA:97286Carney-Stratakis syndromeHP:0040282 - Frequent147
HP:0002015HP:0002015Dysphagia0SDHC CL E G H639110682ORPHA:44890Gastrointestinal stromal tumorHP:0040282 - Frequent147
HP:0002015HP:0002015Dysphagia0SDHC CL E G H639110682OMIM:606764Gastrointestinal stromal tumor.147
HP:0002015HP:0002015Dysphagia0SDHD CL E G H639210683ORPHA:97286Carney-Stratakis syndromeHP:0040282 - Frequent129
HP:0002015HP:0002015Dysphagia0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0002015HP:0002015Dysphagia0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0002015HP:0002015Dysphagia0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0002015HP:0002015Dysphagia0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0002015HP:0002015Dysphagia0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 1HP:0040282 - Frequent64
HP:0002015HP:0002015Dysphagia0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0002015HP:0002015Dysphagia0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0002015HP:0002015Dysphagia0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0002015HP:0002015Dysphagia0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0002015HP:0002015Dysphagia0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0002015HP:0002015Dysphagia0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0002015HP:0002015Dysphagia0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0002015HP:0002015Dysphagia0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional67
HP:0002015HP:0002015Dysphagia0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0002015HP:0002015Dysphagia0SIK1 CL E G H15009411142ORPHA:1935Early myoclonic encephalopathyHP:0040282 - Frequent11
HP:0002015HP:0002015Dysphagia0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002015HP:0002015Dysphagia0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0002015HP:0002015Dysphagia0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002015HP:0002015Dysphagia0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002015HP:0002015Dysphagia0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional32
HP:0002015HP:0002015Dysphagia0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0002015HP:0002015Dysphagia0SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0002015HP:0002015Dysphagia0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0002015HP:0002015Dysphagia0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002015HP:0002015Dysphagia0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0002015HP:0002015Dysphagia0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040282 - Frequent4
HP:0002015HP:0002015Dysphagia0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0002015HP:0002015Dysphagia0SLC25A22 CL E G H7975119954ORPHA:1935Early myoclonic encephalopathyHP:0040282 - Frequent166
HP:0002015HP:0002015Dysphagia0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0002015HP:0002015Dysphagia0SLC2A3 CL E G H651511007ORPHA:399Huntington disease1
HP:0002015HP:0002015Dysphagia0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0002015HP:0002015Dysphagia0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2HP:0040283 - Occasional47
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0002015HP:0002015Dysphagia0SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood.51
HP:0002015HP:0002015Dysphagia0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0002015HP:0002015Dysphagia0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0002015HP:0002015Dysphagia0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine.4
HP:0002015HP:0002015Dysphagia0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040282 - Frequent93
HP:0002015HP:0002015Dysphagia0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0002015HP:0002015Dysphagia0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0002015HP:0002015Dysphagia0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0002015HP:0002015Dysphagia0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0002015HP:0002015Dysphagia0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0002015HP:0002015Dysphagia0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0002015HP:0002015Dysphagia0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0002015HP:0002015Dysphagia0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0002015HP:0002015Dysphagia0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002015HP:0002015Dysphagia0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0002015HP:0002015Dysphagia0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0002015HP:0002015Dysphagia0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0002015HP:0002015Dysphagia0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0002015HP:0002015Dysphagia0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0002015HP:0002015Dysphagia0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0002015HP:0002015Dysphagia0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040282 - Frequent28
HP:0002015HP:0002015Dysphagia0SPG21 CL E G H5132420373OMIM:248900Mast syndromeHP:0040283 - Occasional28
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040282 - Frequent171
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive.171
HP:0002015HP:0002015Dysphagia0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040284 - Very rare171
HP:0002015HP:0002015Dysphagia0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0002015HP:0002015Dysphagia0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0002015HP:0002015Dysphagia0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0002015HP:0002015Dysphagia0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0002015HP:0002015Dysphagia0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0002015HP:0002015Dysphagia0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0002015HP:0002015Dysphagia0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002015HP:0002015Dysphagia0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002015HP:0002015Dysphagia0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0002015HP:0002015Dysphagia0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0002015HP:0002015Dysphagia0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0002015HP:0002015Dysphagia0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0002015HP:0002015Dysphagia0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional99
HP:0002015HP:0002015Dysphagia0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0002015HP:0002015Dysphagia0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0002015HP:0002015Dysphagia0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent237
HP:0002015HP:0002015Dysphagia0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0002015HP:0002015Dysphagia0SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset.9
HP:0002015HP:0002015Dysphagia0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040282 - Frequent4
HP:0002015HP:0002015Dysphagia0SYT14 CL E G H25592823143OMIM:614229Spinocerebellar ataxia, autosomal recessive 11HP:0040283 - Occasional4
HP:0002015HP:0002015Dysphagia0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0002015HP:0002015Dysphagia0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0002015HP:0002015Dysphagia0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0002015HP:0002015Dysphagia0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0002015HP:0002015Dysphagia0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0002015HP:0002015Dysphagia0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0002015HP:0002015Dysphagia0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002015HP:0002015Dysphagia0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0002015HP:0002015Dysphagia0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0002015HP:0002015Dysphagia0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0002015HP:0002015Dysphagia0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0002015HP:0002015Dysphagia0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0002015HP:0002015Dysphagia0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent20
HP:0002015HP:0002015Dysphagia0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0002015HP:0002015Dysphagia0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0002015HP:0002015Dysphagia0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002015HP:0002015Dysphagia0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0002015HP:0002015Dysphagia0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0002015HP:0002015Dysphagia0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002015HP:0002015Dysphagia0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional1
HP:0002015HP:0002015Dysphagia0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040283 - Occasional18
HP:0002015HP:0002015Dysphagia0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002015HP:0002015Dysphagia0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0002015HP:0002015Dysphagia0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002015HP:0002015Dysphagia0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002015HP:0002015Dysphagia0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional32
HP:0002015HP:0002015Dysphagia0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0002015HP:0002015Dysphagia0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0002015HP:0002015Dysphagia0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0002015HP:0002015Dysphagia0TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome.15
HP:0002015HP:0002015Dysphagia0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0002015HP:0002015Dysphagia0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040283 - Occasional103
HP:0002015HP:0002015Dysphagia0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0002015HP:0002015Dysphagia0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0002015HP:0002015Dysphagia0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0002015HP:0002015Dysphagia0TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolusHP:0040283 - Occasional140
HP:0002015HP:0002015Dysphagia0TP63 CL E G H862615979ORPHA:199306Cleft lip/palate140
HP:0002015HP:0002015Dysphagia0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0002015HP:0002015Dysphagia0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0002015HP:0002015Dysphagia0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0002015HP:0002015Dysphagia0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0002015HP:0002015Dysphagia0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.2
HP:0002015HP:0002015Dysphagia0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002015HP:0002015Dysphagia0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0002015HP:0002015Dysphagia0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0002015HP:0002015Dysphagia0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0002015HP:0002015Dysphagia0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002015HP:0002015Dysphagia0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0002015HP:0002015Dysphagia0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0002015HP:0002015Dysphagia0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0002015HP:0002015Dysphagia0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0002015HP:0002015Dysphagia0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0002015HP:0002015Dysphagia0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A102
HP:0002015HP:0002015Dysphagia0TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4102
HP:0002015HP:0002015Dysphagia0TTBK2 CL E G H14605719141ORPHA:98767Spinocerebellar ataxia type 11HP:0040281 - Very frequent57
HP:0002015HP:0002015Dysphagia0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant.66
HP:0002015HP:0002015Dysphagia0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040283 - Occasional66
HP:0002015HP:0002015Dysphagia0TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.
HP:0002015HP:0002015Dysphagia0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0002015HP:0002015Dysphagia0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.HP:0003584 - Late onset113
HP:0002015HP:0002015Dysphagia0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0002015HP:0002015Dysphagia0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)138
HP:0002015HP:0002015Dysphagia0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent138
HP:0002015HP:0002015Dysphagia0TYMS CL E G H729812441OMIM:6200401
HP:0002015HP:0002015Dysphagia0UBB CL E G H731412463ORPHA:99772Cleft velum
HP:0002015HP:0002015Dysphagia0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0002015HP:0002015Dysphagia0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0002015HP:0002015Dysphagia0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040283 - Occasional278
HP:0002015HP:0002015Dysphagia0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0002015HP:0002015Dysphagia0UBQLN2 CL E G H2997812509OMIM:300857Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia.20
HP:0002015HP:0002015Dysphagia0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040281 - Very frequent1
HP:0002015HP:0002015Dysphagia0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0002015HP:0002015Dysphagia0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0002015HP:0002015Dysphagia0VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset.6
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040282 - Frequent2
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H684312642OMIM:618323Myasthenic syndrome, congenital, 25, presynaptic.2
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0002015HP:0002015Dysphagia0VAMP1 CL E G H684312642OMIM:108600Spastic ataxia 1, autosomal dominant.2
HP:0002015HP:0002015Dysphagia0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0002015HP:0002015Dysphagia0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0002015HP:0002015Dysphagia0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002015HP:0002015Dysphagia0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent63
HP:0002015HP:0002015Dysphagia0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0002015HP:0002015Dysphagia0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0002015HP:0002015Dysphagia0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0002015HP:0002015Dysphagia0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37
HP:0002015HP:0002015Dysphagia0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0002015HP:0002015Dysphagia0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0002015HP:0002015Dysphagia0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0002015HP:0002015Dysphagia0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0002015HP:0002015Dysphagia0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0002015HP:0002015Dysphagia0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 26.4
HP:0002015HP:0002015Dysphagia0YARS2 CL E G H5106724249OMIM:613561Myopathy, lactic acidosis, and sideroblastic anemia 2.45
HP:0002015HP:0002015Dysphagia0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0002015HP:0002015Dysphagia0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0002015HP:0002015Dysphagia0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040284 - Very rare362
HP:0002015HP:0002015Dysphagia0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040284 - Very rare362
HP:0002015HP:0002015Dysphagia0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15189
HP:0002015HP:0002015Dysphagia0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0002015HP:0002015Dysphagia0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0002015HP:0002015Dysphagia0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0002015HP:0002015Dysphagia0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0002015HP:0002015Dysphagia0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional34
HP:0002015HP:0002015Dysphagia0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002015HP:0002015Dysphagia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002015HP:0002068Neuromuscular dysphagia1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent96
HP:0002015HP:0007024Pseudobulbar paralysis1ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 8.2
HP:0002015HP:0007024Pseudobulbar paralysis1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0002015HP:0007024Pseudobulbar paralysis1ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessiveHP:0040283 - Occasional89
HP:0002015HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040282 - Frequent6
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040282 - Frequent48
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0002015HP:0007024Pseudobulbar paralysis1B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040283 - Occasional25
HP:0002015HP:0200136Oral-pharyngeal dysphagia1BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040282 - Frequent38
HP:0002015HP:0031162Impaired oropharyngeal swallow response1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1003
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0002015HP:0002068Neuromuscular dysphagia1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0002015HP:0200136Oral-pharyngeal dysphagia1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0002015HP:0007024Pseudobulbar paralysis1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis.114
HP:0002015HP:0007024Pseudobulbar paralysis1DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040282 - Frequent
HP:0002015HP:0200136Oral-pharyngeal dysphagia1DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1
HP:0002015HP:0200136Oral-pharyngeal dysphagia1EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0002015HP:0002068Neuromuscular dysphagia1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0002015HP:0007024Pseudobulbar paralysis1FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040283 - Occasional111
HP:0002015HP:0200136Oral-pharyngeal dysphagia1FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome.332
HP:0002015HP:0002068Neuromuscular dysphagia1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0002015HP:0031162Impaired oropharyngeal swallow response1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GRHL3 CL E G H5782225839ORPHA:99772Cleft velumHP:0040282 - Frequent12
HP:0002015HP:0200136Oral-pharyngeal dysphagia1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0002015HP:0007024Pseudobulbar paralysis1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0002015HP:0007024Pseudobulbar paralysis1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0002015HP:0200136Oral-pharyngeal dysphagia1HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040283 - Occasional12
HP:0002015HP:0200136Oral-pharyngeal dysphagia1IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040282 - Frequent99
HP:0002015HP:0002068Neuromuscular dysphagia1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent80
HP:0002015HP:0002068Neuromuscular dysphagia1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent13
HP:0002015HP:0007024Pseudobulbar paralysis1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant.44
HP:0002015HP:0002068Neuromuscular dysphagia1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040283 - Occasional140
HP:0002015HP:0002068Neuromuscular dysphagia1MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040283 - Occasional140
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040282 - Frequent12
HP:0002015HP:0200136Oral-pharyngeal dysphagia1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0002015HP:0002068Neuromuscular dysphagia1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent217
HP:0002015HP:0002068Neuromuscular dysphagia1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent745
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040282 - Frequent4
HP:0002015HP:0007024Pseudobulbar paralysis1NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0002015HP:0031146Impaired oral bolus formation1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0002015HP:0031146Impaired oral bolus formation1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002015HP:0007024Pseudobulbar paralysis1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0002015HP:0031162Impaired oropharyngeal swallow response1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0002015HP:0200136Oral-pharyngeal dysphagia1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0002015HP:0007024Pseudobulbar paralysis1NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0002015HP:0200136Oral-pharyngeal dysphagia1PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040282 - Frequent337
HP:0002015HP:0007024Pseudobulbar paralysis1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0002015HP:0031162Impaired oropharyngeal swallow response1PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0002015HP:0007024Pseudobulbar paralysis1PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0002015HP:0200136Oral-pharyngeal dysphagia1RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040282 - Frequent150
HP:0002015HP:0007024Pseudobulbar paralysis1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040283 - Occasional
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0002015HP:0007024Pseudobulbar paralysis1SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0002015HP:0031162Impaired oropharyngeal swallow response1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent66
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent66
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0002015HP:0200136Oral-pharyngeal dysphagia1SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040283 - Occasional1
HP:0002015HP:0007024Pseudobulbar paralysis1SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0002015HP:0007024Pseudobulbar paralysis1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040283 - Occasional21
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040282 - Frequent21
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.12
HP:0002015HP:0007024Pseudobulbar paralysis1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0002015HP:0007024Pseudobulbar paralysis1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040283 - Occasional58
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040282 - Frequent140
HP:0002015HP:0002068Neuromuscular dysphagia1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent54
HP:0002015HP:0002068Neuromuscular dysphagia1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent108
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent3
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent3
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent84
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent84
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent57
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent57
HP:0002015HP:0200136Oral-pharyngeal dysphagia1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent102
HP:0002015HP:0031162Impaired oropharyngeal swallow response1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent102
HP:0002015HP:0200136Oral-pharyngeal dysphagia1UBB CL E G H731412463ORPHA:99772Cleft velumHP:0040282 - Frequent
HP:0002015HP:0200136Oral-pharyngeal dysphagia1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0002015HP:0007024Pseudobulbar paralysis1ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189
HP:0002015HP:0200136Oral-pharyngeal dysphagia1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (487) :AASS ABCD1 ACOX1 ACTA1 ACTB ACTG2 ADAR ADCY6 ADD3 ADGRG1 ADH1C ADNP AFG3L2 AGRN ALDH18A1 ALDH4A1 ALS2 ANKRD11 ANXA11 AOPEP APOE APP AR ARHGAP29 ARX ASAH1 ASCC1 ASPA ATG7 ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6 ATP7A ATP7B ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS B4GALNT1 BAP1 BMP4 BRAF C19ORF12 C9ORF72 CACNA1A CACNA1C CACNA1G CARMIL2 CARS2 CASZ1 CAV1 CAVIN1 CCN2 CCR6 CDC73 CDH1 CDON CEP85L CHAT CHCHD10 CHD7 CHMP1A CHRNA1 CHRND CHRNE CLCN1 CLN3 CLN8 CNTNAP1 COL13A1 COL4A5 COL4A6 COL7A1 COLQ COQ2 COQ4 CRLF1 CRYAB CSF1R CTNNB1 CTNS CYP27A1 CYP7B1 DAB1 DCTN1 DCX DDHD2 DGUOK DISP1 DKK1 DLG1 DLL1 DLX4 DMPK DNAJB6 DNAJC13 DNM1L DPYSL5 DTYMK DYRK1A DYSF EBF3 ECM1 EIF4G1 EIF5A EPG5 EPRS1 ERLIN2 EXOSC5 EXOSC9 EXT1 EXT2 FA2H FARS2 FBXL4 FBXO28 FBXO7 FERMT1 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FIG4 FLAD1 FLCN FMR1 FOXH1 FRG1 FTL FUS FUZ FXN GABRD GALC GAS1 GBA1 GBA2 GCDH GCH1 GDAP2 GEMIN4 GFAP GFPT1 GIGYF2 GIPC1 GJB1 GLB1 GLI2 GLUD2 GMPPA GNAO1 GNAQ GNB1 GNB2 GNS GRHL2 GRHL3 GRIN1 GRIN2D GRM1 GRM7 GUCY1A1 HACD1 HEPACAM HEXB HGSNAT HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HOXB1 HPCA HPDL HPRT1 HSD17B10 HSPG2 HTRA1 HTRA2 HTT IDH1 IDH2 IKZF1 IL6ST IPO8 IRF2BPL IRF5 IRF6 ITGA7 JAG1 KAT6A KAT6B KATNB1 KBTBD13 KCNAB2 KCNC3 KCND3 KCNK9 KIAA0319L KIF5A KIT KLHL40 KLHL41 KLHL7 KMT2A KMT2B KY LAMA2 LAMB2 LBR LIFR LIG3 LMNB1 LMOD3 LMX1B LRP12 LRPPRC LRRK2 LUZP1 MACF1 MADD MAN2C1 MAP2K2 MAP3K20 MAPT MATR3 MECP2 MECR MED17 MEGF10 MFF MGME1 MID1 MINPP1 MMP1 MMP23B MPZ MRPS25 MRPS28 MRPS34 MSX1 MTRFR MYH11 MYH2 MYH7 MYH8 MYL2 MYMK MYO1H MYO9A MYORG MYOT MYPN NAA10 NCAPG2 ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDUFA6 NDUFA9 NDUFAF2 NDUFAF3 NDUFB8 NDUFS1 NDUFS2 NDUFS3 NEB NECTIN1 NEFH NEFL NEK1 NEU1 NEUROD2 NF1 NF2 NGLY1 NODAL NONO NOP56 NOS1 NOTCH2NLC NOTCH3 NPC1 NPC2 NR4A2 NSRP1 NTRK1 NUP62 NUTM2B-AS1 OCA2 OPA1 OPTN PABPN1 PANK2 PAX7 PCNA PDE8B PDGFRA PDP1 PDPN PEX1 PEX16 PFN1 PI4KA PIGA PIGN PIK3R5 PLA2G6 PLAA PLCH1 PLEC PLP1 PLXND1 PMP22 PNKD POLG POLG2 POLR3A POLR3B PRDM13 PRDM16 PRDX3 PRKCG PRKCZ PRKRA PRNP PRPH PRPS1 PSAP PSEN1 PTCH1 PTS PUF60 PUS3 PYGM PYROXD1 QDPR RAI1 RARS1 REEP1 RELN REPS1 RERE REV3L RHBDF2 RILPL1 RLIM RNASEH1 RNF170 RRM2B RYR1 SACS SATB1 SATB2 SCARB2 SCN3A SCN4A SCO2 SCUBE3 SDHA SDHB SDHC SDHD SEC31A SELENON SEPSECS SERPING1 SETBP1 SETX SHH SIGMAR1 SIK1 SIX3 SKI SLC12A2 SLC18A3 SLC19A3 SLC1A3 SLC1A4 SLC25A1 SLC25A22 SLC25A4 SLC2A3 SLC44A1 SLC52A2 SLC52A3 SLC5A7 SLC6A9 SLC9A6 SMC1A SNAP25 SNCA SNCAIP SOD1 SON SPART SPEN SPG11 SPG21 SPG7 SPTBN4 SPTLC1 SQSTM1 SRD5A3 SRPX2 STAG2 STIL STUB1 STXBP1 SURF1 SYNJ1 SYT14 SYT2 TAF1 TANGO2 TARDBP TBC1D23 TBCD TBK1 TBP TDGF1 TFG TGIF1 TGM6 TIMM8A TK2 TOP3A TOR1A TP63 TPM2 TPM3 TRAPPC12 TRAPPC6B TRIO TRIP4 TRNK TRNL1 TRNT TRNV TRNW TSEN15 TSEN2 TSEN34 TSEN54 TTBK2 TUBB4A TUBB6 TWNK TYMP TYMS UBB UBE3A UBE4B UBQLN2 UBTF UNC45B VAC14 VAMP1 VAPB VARS1 VCP VPS11 VPS13A VPS35 VRK1 WAC WARS2 WFS1 XRCC1 YARS2 YY1 ZC4H2 ZEB2 ZFYVE26 ZIC2 ZMYM2 ZNF699

Diseases (484) :ORPHA:2203 ORPHA:139396 OMIM:618960 OMIM:264470 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:255310 OMIM:161800 ORPHA:171430 ORPHA:79107 OMIM:607371 OMIM:155310 ORPHA:225154 OMIM:616287 OMIM:617008 ORPHA:98889 OMIM:168600 ORPHA:404448 ORPHA:313772 OMIM:614487 ORPHA:98914 OMIM:616586 ORPHA:79101 OMIM:205100 ORPHA:300605 ORPHA:247604 OMIM:606353 OMIM:607225 ORPHA:261250 OMIM:617839 OMIM:619565 OMIM:607822 ORPHA:324708 OMIM:313200 ORPHA:199306 OMIM:308350 OMIM:159950 ORPHA:2590 OMIM:616867 ORPHA:314911 OMIM:619422 OMIM:618494 OMIM:606693 ORPHA:306674 ORPHA:2131 OMIM:601338 ORPHA:1171 OMIM:128235 ORPHA:71517 ORPHA:255210 ORPHA:198 OMIM:277900 OMIM:164400 ORPHA:98755 OMIM:603516 OMIM:183090 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:164500 ORPHA:94147 OMIM:608768 ORPHA:98760 ORPHA:101006 ORPHA:50251 OMIM:613706 ORPHA:289560 ORPHA:275872 OMIM:183086 ORPHA:98758 OMIM:620029 OMIM:616795 ORPHA:458803 OMIM:618131 ORPHA:477774 ORPHA:1606 ORPHA:220393 ORPHA:220402 OMIM:606721 OMIM:613327 ORPHA:99880 ORPHA:143 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:280195 ORPHA:572013 OMIM:254210 OMIM:615911 ORPHA:276435 OMIM:214800 OMIM:614961 OMIM:601462 OMIM:608930 OMIM:616321 OMIM:616323 OMIM:605809 OMIM:608931 OMIM:255700 ORPHA:228346 ORPHA:1947 OMIM:616286 ORPHA:1018 ORPHA:89842 ORPHA:79408 OMIM:226600 OMIM:603034 ORPHA:98915 OMIM:607426 ORPHA:227510 OMIM:616276 ORPHA:930 ORPHA:399058 OMIM:221820 OMIM:615075 OMIM:219800 OMIM:213700 ORPHA:100986 OMIM:615945 OMIM:105400 ORPHA:2148 ORPHA:320380 OMIM:615033 ORPHA:329314 OMIM:617070 ORPHA:268882 ORPHA:589821 OMIM:160900 ORPHA:34516 OMIM:603511 ORPHA:411602 ORPHA:98673 OMIM:619435 OMIM:619847 ORPHA:268261 ORPHA:268 OMIM:617330 ORPHA:530 OMIM:619376 OMIM:242840 OMIM:617951 ORPHA:209951 ORPHA:280384 OMIM:619576 OMIM:618065 ORPHA:321 ORPHA:329308 ORPHA:466722 OMIM:615471 OMIM:619777 ORPHA:171695 ORPHA:2908 OMIM:173650 ORPHA:2363 ORPHA:208441 OMIM:255100 OMIM:610883 ORPHA:93256 OMIM:158900 OMIM:606159 ORPHA:157846 ORPHA:1136 ORPHA:95 ORPHA:206443 ORPHA:77260 OMIM:608013 OMIM:230900 ORPHA:352641 ORPHA:25 OMIM:233910 OMIM:618369 OMIM:617913 ORPHA:363717 ORPHA:363722 ORPHA:98897 OMIM:302800 OMIM:230600 OMIM:615510 OMIM:617493 ORPHA:3205 OMIM:616973 OMIM:619503 OMIM:252940 OMIM:616029 ORPHA:99772 ORPHA:208447 OMIM:617162 OMIM:617691 OMIM:618922 OMIM:615750 OMIM:613925 ORPHA:309169 ORPHA:309162 OMIM:252930 ORPHA:36426 ORPHA:79276 OMIM:614744 OMIM:224500 OMIM:619027 OMIM:300322 ORPHA:391428 ORPHA:199354 OMIM:617248 ORPHA:399 OMIM:617435 ORPHA:163634 OMIM:619751 OMIM:619472 OMIM:618088 ORPHA:141291 OMIM:619574 OMIM:616268 OMIM:606170 ORPHA:89844 ORPHA:98768 OMIM:607346 OMIM:612292 ORPHA:166108 OMIM:617235 OMIM:606764 ORPHA:44890 OMIM:615348 OMIM:617055 ORPHA:319182 ORPHA:589618 ORPHA:496689 OMIM:617114 ORPHA:258 ORPHA:779 OMIM:601559 OMIM:619780 ORPHA:298 ORPHA:99027 OMIM:169500 ORPHA:495818 OMIM:164310 ORPHA:70472 OMIM:618325 OMIM:619004 OMIM:619775 ORPHA:638 ORPHA:240071 ORPHA:240103 ORPHA:240085 ORPHA:240112 OMIM:601104 OMIM:606070 ORPHA:600 OMIM:300260 OMIM:617282 ORPHA:508093 OMIM:613668 OMIM:614399 OMIM:617086 ORPHA:485421 ORPHA:352447 ORPHA:2745 OMIM:300000 OMIM:619527 OMIM:607736 OMIM:619025 OMIM:618958 OMIM:617664 ORPHA:254930 OMIM:613559 OMIM:619350 OMIM:605637 OMIM:158300 OMIM:254940 OMIM:619482 OMIM:618198 OMIM:618317 ORPHA:266 OMIM:182920 OMIM:300855 OMIM:618460 OMIM:618253 OMIM:618247 OMIM:618233 ORPHA:70474 OMIM:618226 OMIM:618230 OMIM:256030 OMIM:607734 OMIM:617892 ORPHA:93399 OMIM:618374 ORPHA:637 ORPHA:404454 OMIM:615273 ORPHA:466791 OMIM:614153 ORPHA:276198 OMIM:619473 OMIM:125310 ORPHA:136 OMIM:257220 OMIM:607625 OMIM:620001 ORPHA:642 OMIM:271930 OMIM:618637 ORPHA:98794 OMIM:210000 OMIM:613435 OMIM:164300 ORPHA:216873 ORPHA:216866 OMIM:607236 OMIM:234200 OMIM:618578 OMIM:615919 ORPHA:228169 OMIM:608782 OMIM:214100 OMIM:614877 OMIM:614808 OMIM:619708 ORPHA:447 ORPHA:280633 ORPHA:64753 ORPHA:199351 OMIM:610217 OMIM:617527 ORPHA:521426 ORPHA:254361 OMIM:312080 ORPHA:570 ORPHA:98916 OMIM:118800 ORPHA:254892 ORPHA:254886 OMIM:603041 OMIM:157640 OMIM:258450 ORPHA:94125 OMIM:607459 OMIM:607694 ORPHA:447896 OMIM:264090 OMIM:614381 OMIM:619909 OMIM:619862 OMIM:605361 OMIM:612067 ORPHA:210571 OMIM:600072 OMIM:301835 OMIM:249900 ORPHA:13 OMIM:261640 ORPHA:508488 ORPHA:488627 ORPHA:368 OMIM:617258 ORPHA:226 OMIM:261630 ORPHA:1713 ORPHA:438114 ORPHA:101011 OMIM:610250 OMIM:617916 ORPHA:494344 ORPHA:2198 OMIM:619790 OMIM:300978 ORPHA:329336 OMIM:616479 OMIM:619686 OMIM:613077 ORPHA:98 OMIM:619229 ORPHA:576283 OMIM:254900 OMIM:617938 ORPHA:99736 ORPHA:99735 ORPHA:684 OMIM:619184 ORPHA:97286 OMIM:618651 ORPHA:2524 ORPHA:100050 ORPHA:798 OMIM:606002 ORPHA:1935 OMIM:619083 OMIM:607483 ORPHA:447997 OMIM:618868 OMIM:614707 OMIM:211530 OMIM:211500 OMIM:617143 OMIM:617301 ORPHA:85278 OMIM:300243 OMIM:168601 ORPHA:500150 ORPHA:101000 OMIM:619312 ORPHA:2822 OMIM:604360 ORPHA:101001 OMIM:248900 ORPHA:35689 OMIM:607259 ORPHA:99013 OMIM:617519 OMIM:616437 OMIM:612379 ORPHA:412057 OMIM:618093 OMIM:615530 ORPHA:284271 OMIM:614229 OMIM:619461 OMIM:300966 ORPHA:53351 ORPHA:480907 OMIM:616878 ORPHA:480864 OMIM:612069 OMIM:617695 ORPHA:496641 OMIM:616439 OMIM:607136 ORPHA:90117 OMIM:613908 ORPHA:276193 ORPHA:52368 OMIM:304700 ORPHA:254875 OMIM:617069 OMIM:618098 OMIM:128100 OMIM:609284 ORPHA:500144 OMIM:617669 OMIM:617862 OMIM:617061 OMIM:616866 OMIM:612389 OMIM:277470 OMIM:225753 ORPHA:98767 OMIM:128101 ORPHA:98805 OMIM:617732 OMIM:609286 OMIM:620040 ORPHA:411511 ORPHA:98795 OMIM:300857 ORPHA:500180 OMIM:617672 OMIM:619178 OMIM:617054 ORPHA:251282 OMIM:618323 OMIM:108600 OMIM:608627 OMIM:617802 OMIM:613954 OMIM:619637 OMIM:200150 ORPHA:2388 OMIM:607596 ORPHA:466950 OMIM:619738 ORPHA:572798 OMIM:222300 OMIM:617633 OMIM:613561 ORPHA:506358 OMIM:301041 ORPHA:261552 ORPHA:261537 ORPHA:100996 OMIM:619522 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.