Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis			147
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive			86
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis			114
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3			39
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type			74
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1			125
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia			179
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar 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:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel			88
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency			88
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive			133
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia			24
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1			103
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis			747
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis			14
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis			18
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia			36
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome			36
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency			18
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia			493
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome			493
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia			63
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia			46
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia			18
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive			94
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus			99
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy			528
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy			302
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal			93
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor			327
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor			327
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3			42
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome			140
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset			140
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy			23
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis			133
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2			418
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia			105
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A			75
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body			75
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia			30
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24			101
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1			241
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset			27
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2			470
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy			10
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration			55
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis			26
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PDE8B CL E G H	8622	8794	ORPHA:228169	Autosomal dominant striatal neurodegeneration			75
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor			337
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1			66
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome			464
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14			83
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3			241
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	QDPR CL E G H	5860	9752	ORPHA:226	Dihydropteridine reductase deficiency			43
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31			87
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant			87
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent		80
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis			77
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure			77
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia			263
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor			304
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome			237
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor			237
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor			237
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome			147
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor			147
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor			147
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome			129
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis			10
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis			33
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy			166
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia			81
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant			65
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome			65
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset			35
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21			28
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis			171
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5			416
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset			9
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism			21
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis			48
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis			238
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia			5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus			140
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A			102
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11			57
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant			66
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset			6
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0025270	HP:0025270	Abnormal esophagus physiology	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0025270	HP:0002020	Gastroesophageal reflux	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0025270	HP:0002015	Dysphagia	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		147
HP:0025270	HP:0002015	Dysphagia	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional		53
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0025270	HP:0002015	Dysphagia	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0025270	HP:0002015	Dysphagia	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0025270	HP:0002015	Dysphagia	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0025270	HP:0002015	Dysphagia	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0025270	HP:0002015	Dysphagia	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0025270	HP:0002015	Dysphagia	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0025270	HP:0002015	Dysphagia	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0025270	HP:0002015	Dysphagia	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0025270	HP:0002015	Dysphagia	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0025270	HP:0002015	Dysphagia	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0025270	HP:0002015	Dysphagia	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.		23
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0025270	HP:0002015	Dysphagia	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		116
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0025270	HP:0002015	Dysphagia	1	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8			2
HP:0025270	HP:0002015	Dysphagia	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0025270	HP:0002015	Dysphagia	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0025270	HP:0002015	Dysphagia	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.		4
HP:0025270	HP:0002015	Dysphagia	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent		47
HP:0025270	HP:0002020	Gastroesophageal reflux	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0025270	HP:0002020	Gastroesophageal reflux	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040282 - Frequent		6
HP:0025270	HP:0002015	Dysphagia	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0025270	HP:0002015	Dysphagia	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.		86
HP:0025270	HP:0002020	Gastroesophageal reflux	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0025270	HP:0002015	Dysphagia	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		127
HP:0025270	HP:0002020	Gastroesophageal reflux	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.		89
HP:0025270	HP:0002015	Dysphagia	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0025270	HP:0002015	Dysphagia	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0025270	HP:0002015	Dysphagia	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.		114
HP:0025270	HP:0002015	Dysphagia	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0025270	HP:0002015	Dysphagia	1	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040282 - Frequent		114
HP:0025270	HP:0002015	Dysphagia	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.		114
HP:0025270	HP:0002015	Dysphagia	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0025270	HP:0002020	Gastroesophageal reflux	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0025270	HP:0002015	Dysphagia	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0025270	HP:0002015	Dysphagia	1	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0025270	HP:0002015	Dysphagia	1	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0025270	HP:0002020	Gastroesophageal reflux	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0025270	HP:0002020	Gastroesophageal reflux	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0025270	HP:0002020	Gastroesophageal reflux	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0025270	HP:0002015	Dysphagia	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0025270	HP:0002015	Dysphagia	1	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type	HP:0040281 - Very frequent		74
HP:0025270	HP:0002015	Dysphagia	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.		125
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		179
HP:0025270	HP:0002015	Dysphagia	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0025270	HP:0002015	Dysphagia	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1	.		166
HP:0025270	HP:0002015	Dysphagia	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0025270	HP:0002015	Dysphagia	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040284 - Very rare		78
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus			2
HP:0025270	HP:0002015	Dysphagia	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent		15
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent		48
HP:0025270	HP:0002015	Dysphagia	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0025270	HP:0002015	Dysphagia	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		71
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		5
HP:0025270	HP:0002015	Dysphagia	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0025270	HP:0002015	Dysphagia	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0025270	HP:0002015	Dysphagia	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0025270	HP:0002015	Dysphagia	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0025270	HP:0002015	Dysphagia	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0025270	HP:0002015	Dysphagia	1	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040283 - Occasional		150
HP:0025270	HP:0002015	Dysphagia	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.		150
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0025270	HP:0002015	Dysphagia	1	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent		150
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0025270	HP:0002015	Dysphagia	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0025270	HP:0002015	Dysphagia	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040281 - Very frequent		169
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0025270	HP:0002015	Dysphagia	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0025270	HP:0002015	Dysphagia	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent		19
HP:0025270	HP:0002015	Dysphagia	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0025270	HP:0002015	Dysphagia	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.		11
HP:0025270	HP:0002015	Dysphagia	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0025270	HP:0002015	Dysphagia	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0025270	HP:0002015	Dysphagia	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional		14
HP:0025270	HP:0002015	Dysphagia	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional		14
HP:0025270	HP:0002015	Dysphagia	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional		14
HP:0025270	HP:0002015	Dysphagia	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar 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:0025270	HP:0002015	Dysphagia	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040281 - Very frequent		8
HP:0025270	HP:0002015	Dysphagia	1	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0025270	HP:0002015	Dysphagia	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional		1
HP:0025270	HP:0002015	Dysphagia	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0025270	HP:0002015	Dysphagia	1	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0025270	HP:0002015	Dysphagia	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional		1
HP:0025270	HP:0002015	Dysphagia	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0025270	HP:0002015	Dysphagia	1	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040283 - Occasional		184
HP:0025270	HP:0002020	Gastroesophageal reflux	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent		314
HP:0025270	HP:0002015	Dysphagia	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0025270	HP:0002020	Gastroesophageal reflux	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0025270	HP:0002015	Dysphagia	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7	.		276
HP:0025270	HP:0002020	Gastroesophageal reflux	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent		114
HP:0025270	HP:0002015	Dysphagia	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		56
HP:0025270	HP:0002015	Dysphagia	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0025270	HP:0002015	Dysphagia	1	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.		449
HP:0025270	HP:0002015	Dysphagia	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent		449
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0025270	HP:0002015	Dysphagia	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0025270	HP:0002015	Dysphagia	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0025270	HP:0002015	Dysphagia	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent		32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0025270	HP:0002015	Dysphagia	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0025270	HP:0002015	Dysphagia	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional		35
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0025270	HP:0002015	Dysphagia	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent		11
HP:0025270	HP:0002015	Dysphagia	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0025270	HP:0002015	Dysphagia	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0025270	HP:0002015	Dysphagia	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0025270	HP:0002015	Dysphagia	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0025270	HP:0002015	Dysphagia	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0025270	HP:0002015	Dysphagia	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0025270	HP:0002015	Dysphagia	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	HP:0003593 - Infantile onset	31
HP:0025270	HP:0002015	Dysphagia	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent		169
HP:0025270	HP:0002015	Dysphagia	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent		169
HP:0025270	HP:0002015	Dysphagia	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		102
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0025270	HP:0002015	Dysphagia	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0025270	HP:0002015	Dysphagia	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0025270	HP:0002015	Dysphagia	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0025270	HP:0002015	Dysphagia	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0025270	HP:0002015	Dysphagia	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		200
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0025270	HP:0002015	Dysphagia	1	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0025270	HP:0002015	Dysphagia	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0025270	HP:0002015	Dysphagia	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		65
HP:0025270	HP:0002015	Dysphagia	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0025270	HP:0002015	Dysphagia	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		11
HP:0025270	HP:0002015	Dysphagia	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional		11
HP:0025270	HP:0002015	Dysphagia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0025270	HP:0002015	Dysphagia	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	HP:0040283 - Occasional		19
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	HP:0040283 - Occasional		19
HP:0025270	HP:0002015	Dysphagia	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.		74
HP:0025270	HP:0002015	Dysphagia	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF			4
HP:0025270	HP:0002015	Dysphagia	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.		88
HP:0025270	HP:0002015	Dysphagia	1	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	.		88
HP:0025270	HP:0002015	Dysphagia	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0025270	HP:0002015	Dysphagia	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0025270	HP:0002015	Dysphagia	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.		133
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0025270	HP:0002015	Dysphagia	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040283 - Occasional		111
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0025270	HP:0002015	Dysphagia	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.		6
HP:0025270	HP:0002015	Dysphagia	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		6
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		373
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0025270	HP:0002015	Dysphagia	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040281 - Very frequent		678
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0025270	HP:0002015	Dysphagia	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040281 - Very frequent		18
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		660
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		325
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent		263
HP:0025270	HP:0002015	Dysphagia	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent		263
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0025270	HP:0002015	Dysphagia	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0025270	HP:0002015	Dysphagia	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0025270	HP:0002015	Dysphagia	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0025270	HP:0002015	Dysphagia	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0025270	HP:0002020	Gastroesophageal reflux	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0025270	HP:0002015	Dysphagia	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0025270	HP:0002015	Dysphagia	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0025270	HP:0002015	Dysphagia	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	.		24
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0025270	HP:0002015	Dysphagia	1	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040281 - Very frequent		24
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent		24
HP:0025270	HP:0002015	Dysphagia	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040281 - Very frequent		46
HP:0025270	HP:0002015	Dysphagia	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus			1
HP:0025270	HP:0002015	Dysphagia	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0025270	HP:0002015	Dysphagia	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0025270	HP:0002020	Gastroesophageal reflux	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0025270	HP:0002015	Dysphagia	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0025270	HP:0002015	Dysphagia	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare		57
HP:0025270	HP:0002015	Dysphagia	1	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	HP:0040283 - Occasional		4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0025270	HP:0002015	Dysphagia	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional		145
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0025270	HP:0002015	Dysphagia	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040282 - Frequent		29
HP:0025270	HP:0002015	Dysphagia	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.		29
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.		62
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0025270	HP:0002015	Dysphagia	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040282 - Frequent		57
HP:0025270	HP:0002015	Dysphagia	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	HP:0040283 - Occasional		57
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0025270	HP:0002015	Dysphagia	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0025270	HP:0002015	Dysphagia	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0025270	HP:0002015	Dysphagia	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0025270	HP:0002015	Dysphagia	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0025270	HP:0002015	Dysphagia	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		22
HP:0025270	HP:0002015	Dysphagia	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0025270	HP:0002015	Dysphagia	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0025270	HP:0002015	Dysphagia	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0025270	HP:0002015	Dysphagia	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0025270	HP:0002015	Dysphagia	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0025270	HP:0002015	Dysphagia	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		3
HP:0025270	HP:0002015	Dysphagia	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0025270	HP:0002015	Dysphagia	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0025270	HP:0002015	Dysphagia	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0025270	HP:0002015	Dysphagia	1	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040282 - Frequent		103
HP:0025270	HP:0002015	Dysphagia	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.		103
HP:0025270	HP:0002015	Dysphagia	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0025270	HP:0002015	Dysphagia	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		747
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0025270	HP:0002015	Dysphagia	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0025270	HP:0002015	Dysphagia	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0025270	HP:0002020	Gastroesophageal reflux	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0025270	HP:0002015	Dysphagia	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040284 - Very rare		600
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0025270	HP:0002015	Dysphagia	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0025270	HP:0002015	Dysphagia	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040282 - Frequent		14
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0025270	HP:0002015	Dysphagia	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0025270	HP:0002015	Dysphagia	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional		133
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.		133
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0025270	HP:0002015	Dysphagia	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0025270	HP:0002015	Dysphagia	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0025270	HP:0002015	Dysphagia	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0025270	HP:0002015	Dysphagia	1	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040282 - Frequent		18
HP:0025270	HP:0002015	Dysphagia	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional		18
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		36
HP:0025270	HP:0002015	Dysphagia	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0025270	HP:0002015	Dysphagia	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0025270	HP:0002015	Dysphagia	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare		96
HP:0025270	HP:0002015	Dysphagia	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare		102
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0025270	HP:0002020	Gastroesophageal reflux	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent		102
HP:0025270	HP:0002015	Dysphagia	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040284 - Very rare		76
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0025270	HP:0002015	Dysphagia	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0025270	HP:0002015	Dysphagia	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0025270	HP:0002015	Dysphagia	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		36
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0025270	HP:0002015	Dysphagia	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent		136
HP:0025270	HP:0002015	Dysphagia	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0025270	HP:0002015	Dysphagia	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		17
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0025270	HP:0002015	Dysphagia	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0025270	HP:0002015	Dysphagia	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0025270	HP:0002015	Dysphagia	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0025270	HP:0002015	Dysphagia	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0025270	HP:0002015	Dysphagia	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		17
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0025270	HP:0002015	Dysphagia	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0025270	HP:0002015	Dysphagia	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0025270	HP:0002015	Dysphagia	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		175
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	HP:0040283 - Occasional		145
HP:0025270	HP:0002015	Dysphagia	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		145
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0025270	HP:0002015	Dysphagia	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	.		18
HP:0025270	HP:0002015	Dysphagia	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		493
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent		493
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040282 - Frequent		30
HP:0025270	HP:0002015	Dysphagia	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040283 - Occasional		30
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent		177
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0025270	HP:0002015	Dysphagia	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0025270	HP:0002015	Dysphagia	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0025270	HP:0002015	Dysphagia	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0025270	HP:0002015	Dysphagia	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0025270	HP:0002015	Dysphagia	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		48
HP:0025270	HP:0002015	Dysphagia	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	HP:0040283 - Occasional		1
HP:0025270	HP:0002015	Dysphagia	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0025270	HP:0002015	Dysphagia	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent		33
HP:0025270	HP:0002015	Dysphagia	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		105
HP:0025270	HP:0002015	Dysphagia	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0025270	HP:0002015	Dysphagia	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0025270	HP:0002015	Dysphagia	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040283 - Occasional		18
HP:0025270	HP:0002020	Gastroesophageal reflux	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0025270	HP:0002015	Dysphagia	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0025270	HP:0002015	Dysphagia	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0025270	HP:0002015	Dysphagia	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0025270	HP:0002015	Dysphagia	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0025270	HP:0002015	Dysphagia	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0025270	HP:0002015	Dysphagia	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0025270	HP:0002015	Dysphagia	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		2
HP:0025270	HP:0002015	Dysphagia	1	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040281 - Very frequent
HP:0025270	HP:0002015	Dysphagia	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0025270	HP:0002015	Dysphagia	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0025270	HP:0002015	Dysphagia	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0025270	HP:0002015	Dysphagia	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040282 - Frequent		30
HP:0025270	HP:0002015	Dysphagia	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		115
HP:0025270	HP:0002015	Dysphagia	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0025270	HP:0002015	Dysphagia	1	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0025270	HP:0002015	Dysphagia	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0025270	HP:0002015	Dysphagia	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0025270	HP:0002015	Dysphagia	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0025270	HP:0002015	Dysphagia	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0025270	HP:0002015	Dysphagia	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		8
HP:0025270	HP:0002015	Dysphagia	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0025270	HP:0002015	Dysphagia	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.		107
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0025270	HP:0002015	Dysphagia	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0025270	HP:0002015	Dysphagia	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0025270	HP:0002015	Dysphagia	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0025270	HP:0002015	Dysphagia	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0025270	HP:0002015	Dysphagia	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0025270	HP:0002015	Dysphagia	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		173
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		63
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		46
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0025270	HP:0002015	Dysphagia	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0025270	HP:0002015	Dysphagia	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.		24
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0025270	HP:0002015	Dysphagia	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.		36
HP:0025270	HP:0002015	Dysphagia	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional		101
HP:0025270	HP:0002015	Dysphagia	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0025270	HP:0002015	Dysphagia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent		7
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0025270	HP:0002015	Dysphagia	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		18
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	HP:0040283 - Occasional		33
HP:0025270	HP:0002015	Dysphagia	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0025270	HP:0002015	Dysphagia	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0025270	HP:0002015	Dysphagia	1	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0025270	HP:0002015	Dysphagia	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0025270	HP:0002015	Dysphagia	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia
HP:0025270	HP:0002015	Dysphagia	1	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	.
HP:0025270	HP:0002020	Gastroesophageal reflux	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0025270	HP:0002015	Dysphagia	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0025270	HP:0002015	Dysphagia	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0025270	HP:0002015	Dysphagia	1	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0025270	HP:0002015	Dysphagia	1	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0025270	HP:0002015	Dysphagia	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.		13
HP:0025270	HP:0002015	Dysphagia	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040282 - Frequent		4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040281 - Very frequent
HP:0025270	HP:0002015	Dysphagia	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040281 - Very frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent		2
HP:0025270	HP:0002015	Dysphagia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0025270	HP:0002015	Dysphagia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0025270	HP:0002015	Dysphagia	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0025270	HP:0002015	Dysphagia	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.		2
HP:0025270	HP:0002015	Dysphagia	1	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.		4
HP:0025270	HP:0002015	Dysphagia	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0025270	HP:0002015	Dysphagia	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.		76
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0025270	HP:0002015	Dysphagia	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0025270	HP:0002015	Dysphagia	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0025270	HP:0002020	Gastroesophageal reflux	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0025270	HP:0002015	Dysphagia	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0025270	HP:0002015	Dysphagia	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0025270	HP:0002015	Dysphagia	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0025270	HP:0002015	Dysphagia	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0025270	HP:0002015	Dysphagia	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional		15
HP:0025270	HP:0002015	Dysphagia	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional		29
HP:0025270	HP:0002015	Dysphagia	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040282 - Frequent		8
HP:0025270	HP:0002015	Dysphagia	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive			94
HP:0025270	HP:0002020	Gastroesophageal reflux	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025270	HP:0002015	Dysphagia	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0025270	HP:0002020	Gastroesophageal reflux	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0025270	HP:0002015	Dysphagia	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0025270	HP:0002015	Dysphagia	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent		4
HP:0025270	HP:0002015	Dysphagia	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0025270	HP:0002015	Dysphagia	1	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040283 - Occasional		99
HP:0025270	HP:0002015	Dysphagia	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0025270	HP:0002015	Dysphagia	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025270	HP:0002015	Dysphagia	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0025270	HP:0002020	Gastroesophageal reflux	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0025270	HP:0002015	Dysphagia	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0025270	HP:0002015	Dysphagia	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional		141
HP:0025270	HP:0002015	Dysphagia	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		10
HP:0025270	HP:0002015	Dysphagia	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0025270	HP:0002015	Dysphagia	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0025270	HP:0002015	Dysphagia	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional		17
HP:0025270	HP:0002015	Dysphagia	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.		35
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0025270	HP:0002015	Dysphagia	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0025270	HP:0002015	Dysphagia	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional		528
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional		302
HP:0025270	HP:0002015	Dysphagia	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		276
HP:0025270	HP:0002015	Dysphagia	1	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0025270	HP:0002015	Dysphagia	1	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.		327
HP:0025270	HP:0002015	Dysphagia	1	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent		327
HP:0025270	HP:0002015	Dysphagia	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0025270	HP:0002015	Dysphagia	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0025270	HP:0002015	Dysphagia	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0025270	HP:0002015	Dysphagia	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0025270	HP:0002015	Dysphagia	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0025270	HP:0002015	Dysphagia	1	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.		42
HP:0025270	HP:0002015	Dysphagia	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0025270	HP:0002015	Dysphagia	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0025270	HP:0002020	Gastroesophageal reflux	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0025270	HP:0002015	Dysphagia	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040283 - Occasional		3
HP:0025270	HP:0002015	Dysphagia	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0025270	HP:0002015	Dysphagia	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional		411
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent		411
HP:0025270	HP:0002015	Dysphagia	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040281 - Very frequent		70
HP:0025270	HP:0002015	Dysphagia	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent		70
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0025270	HP:0002015	Dysphagia	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0025270	HP:0002015	Dysphagia	1	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		1
HP:0025270	HP:0002015	Dysphagia	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0025270	HP:0002015	Dysphagia	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0025270	HP:0002015	Dysphagia	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0025270	HP:0002015	Dysphagia	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0025270	HP:0002015	Dysphagia	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		165
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0025270	HP:0002015	Dysphagia	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		125
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional		191
HP:0025270	HP:0002015	Dysphagia	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional		191
HP:0025270	HP:0002015	Dysphagia	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		221
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.		92
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0025270	HP:0002015	Dysphagia	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.		2
HP:0025270	HP:0002015	Dysphagia	1	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0025270	HP:0002015	Dysphagia	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0025270	HP:0002015	Dysphagia	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent
HP:0025270	HP:0002015	Dysphagia	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040282 - Frequent		178
HP:0025270	HP:0002015	Dysphagia	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0025270	HP:0002015	Dysphagia	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome			140
HP:0025270	HP:0002015	Dysphagia	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.		140
HP:0025270	HP:0002015	Dysphagia	1	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040283 - Occasional		140
HP:0025270	HP:0002015	Dysphagia	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0025270	HP:0002015	Dysphagia	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040283 - Occasional		140
HP:0025270	HP:0002015	Dysphagia	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0025270	HP:0002015	Dysphagia	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0025270	HP:0002015	Dysphagia	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency	.		19
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.		950
HP:0025270	HP:0002015	Dysphagia	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.		950
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0025270	HP:0002015	Dysphagia	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.		6
HP:0025270	HP:0002015	Dysphagia	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional		228
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0025270	HP:0002015	Dysphagia	1	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.		23
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0025270	HP:0002015	Dysphagia	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		462
HP:0025270	HP:0002020	Gastroesophageal reflux	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0025270	HP:0002015	Dysphagia	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.		17
HP:0025270	HP:0002015	Dysphagia	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0025270	HP:0002015	Dysphagia	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0025270	HP:0002015	Dysphagia	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0025270	HP:0002015	Dysphagia	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.		57
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.		57
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0025270	HP:0002015	Dysphagia	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0025270	HP:0002015	Dysphagia	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0025270	HP:0002015	Dysphagia	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.		134
HP:0025270	HP:0002015	Dysphagia	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0025270	HP:0002015	Dysphagia	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0025270	HP:0002015	Dysphagia	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus			13
HP:0025270	HP:0002015	Dysphagia	1	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040283 - Occasional		12
HP:0025270	HP:0002015	Dysphagia	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0025270	HP:0002015	Dysphagia	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0025270	HP:0002015	Dysphagia	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		133
HP:0025270	HP:0002015	Dysphagia	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2			418
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2			418
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2			418
HP:0025270	HP:0002015	Dysphagia	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia			105
HP:0025270	HP:0002015	Dysphagia	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0025270	HP:0002015	Dysphagia	1	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.		93
HP:0025270	HP:0002015	Dysphagia	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0025270	HP:0002015	Dysphagia	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0025270	HP:0002015	Dysphagia	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0025270	HP:0002015	Dysphagia	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0025270	HP:0002015	Dysphagia	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0025270	HP:0002015	Dysphagia	1	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0025270	HP:0002015	Dysphagia	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional		75
HP:0025270	HP:0002015	Dysphagia	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.		75
HP:0025270	HP:0002015	Dysphagia	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0025270	HP:0002015	Dysphagia	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	HP:0040283 - Occasional		48
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0025270	HP:0002015	Dysphagia	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0025270	HP:0002015	Dysphagia	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		96
HP:0025270	HP:0002015	Dysphagia	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0025270	HP:0002015	Dysphagia	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.		27
HP:0025270	HP:0002015	Dysphagia	1	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.		26
HP:0025270	HP:0002015	Dysphagia	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0025270	HP:0002015	Dysphagia	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0025270	HP:0002015	Dysphagia	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0025270	HP:0002015	Dysphagia	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.		22
HP:0025270	HP:0002015	Dysphagia	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0025270	HP:0002015	Dysphagia	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0025270	HP:0002015	Dysphagia	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0025270	HP:0002015	Dysphagia	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0025270	HP:0002015	Dysphagia	1	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040283 - Occasional		4
HP:0025270	HP:0002015	Dysphagia	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		30
HP:0025270	HP:0002015	Dysphagia	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0025270	HP:0002015	Dysphagia	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0025270	HP:0002015	Dysphagia	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24	.		101
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0025270	HP:0002015	Dysphagia	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0025270	HP:0002015	Dysphagia	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040282 - Frequent		52
HP:0025270	HP:0002015	Dysphagia	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040282 - Frequent		1952
HP:0025270	HP:0002015	Dysphagia	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0025270	HP:0002015	Dysphagia	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0025270	HP:0002015	Dysphagia	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0025270	HP:0002015	Dysphagia	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0025270	HP:0002015	Dysphagia	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0025270	HP:0002015	Dysphagia	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0025270	HP:0002015	Dysphagia	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0025270	HP:0002015	Dysphagia	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		45
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0025270	HP:0002015	Dysphagia	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0025270	HP:0002015	Dysphagia	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0025270	HP:0002015	Dysphagia	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare		9
HP:0025270	HP:0002015	Dysphagia	1	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040281 - Very frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent		2
HP:0025270	HP:0002015	Dysphagia	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0025270	HP:0002015	Dysphagia	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0025270	HP:0002015	Dysphagia	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0025270	HP:0002015	Dysphagia	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0025270	HP:0002015	Dysphagia	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.		258
HP:0025270	HP:0002015	Dysphagia	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.		241
HP:0025270	HP:0002015	Dysphagia	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.		27
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.		470
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0025270	HP:0002015	Dysphagia	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0025270	HP:0002015	Dysphagia	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional		97
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.		1
HP:0025270	HP:0002015	Dysphagia	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		7
HP:0025270	HP:0002015	Dysphagia	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.		7
HP:0025270	HP:0002020	Gastroesophageal reflux	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0025270	HP:0002015	Dysphagia	1	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0025270	HP:0002015	Dysphagia	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		121
HP:0025270	HP:0002020	Gastroesophageal reflux	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0025270	HP:0002015	Dysphagia	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0025270	HP:0002015	Dysphagia	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0025270	HP:0002015	Dysphagia	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12	.		62
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0025270	HP:0002015	Dysphagia	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.		10
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0025270	HP:0002015	Dysphagia	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional		55
HP:0025270	HP:0002015	Dysphagia	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent		55
HP:0025270	HP:0002015	Dysphagia	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.		55
HP:0025270	HP:0002015	Dysphagia	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		26
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0025270	HP:0002015	Dysphagia	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0025270	HP:0002015	Dysphagia	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.		1
HP:0025270	HP:0002015	Dysphagia	1	PDE8B CL E G H	8622	8794	ORPHA:228169	Autosomal dominant striatal neurodegeneration	HP:0040282 - Frequent		75
HP:0025270	HP:0002015	Dysphagia	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0025270	HP:0002015	Dysphagia	1	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent		337
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0025270	HP:0002015	Dysphagia	1	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.		52
HP:0025270	HP:0002015	Dysphagia	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0025270	HP:0002015	Dysphagia	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.		59
HP:0025270	HP:0002015	Dysphagia	1	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18			6
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040284 - Very rare		15
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent		86
HP:0025270	HP:0002015	Dysphagia	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0025270	HP:0002015	Dysphagia	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0025270	HP:0025271	Esophageal spasms	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040284 - Very rare		46
HP:0025270	HP:0002015	Dysphagia	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040284 - Very rare		46
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional		37
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0025270	HP:0002015	Dysphagia	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0025270	HP:0002015	Dysphagia	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional		11
HP:0025270	HP:0002015	Dysphagia	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent		133
HP:0025270	HP:0002015	Dysphagia	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0025270	HP:0002015	Dysphagia	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0025270	HP:0002015	Dysphagia	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0025270	HP:0002015	Dysphagia	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional		759
HP:0025270	HP:0002015	Dysphagia	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0025270	HP:0002015	Dysphagia	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0025270	HP:0002015	Dysphagia	1	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.		66
HP:0025270	HP:0002020	Gastroesophageal reflux	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0025270	HP:0002020	Gastroesophageal reflux	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0025270	HP:0002015	Dysphagia	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0025270	HP:0002020	Gastroesophageal reflux	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0025270	HP:0002015	Dysphagia	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0025270	HP:0002015	Dysphagia	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0025270	HP:0002015	Dysphagia	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		464
HP:0025270	HP:0002020	Gastroesophageal reflux	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		464
HP:0025270	HP:0002015	Dysphagia	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0025270	HP:0002015	Dysphagia	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0025270	HP:0002015	Dysphagia	1	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent		464
HP:0025270	HP:0002015	Dysphagia	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0025270	HP:0002015	Dysphagia	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0025270	HP:0002020	Gastroesophageal reflux	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0025270	HP:0002020	Gastroesophageal reflux	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	HP:0040283 - Occasional		45
HP:0025270	HP:0002020	Gastroesophageal reflux	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0025270	HP:0002015	Dysphagia	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		138
HP:0025270	HP:0002015	Dysphagia	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0025270	HP:0002015	Dysphagia	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0025270	HP:0002015	Dysphagia	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		67
HP:0025270	HP:0002015	Dysphagia	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	HP:0040283 - Occasional		67
HP:0025270	HP:0002020	Gastroesophageal reflux	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare		76
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional		20
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0025270	HP:0002015	Dysphagia	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0025270	HP:0002015	Dysphagia	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0025270	HP:0002015	Dysphagia	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0025270	HP:0002015	Dysphagia	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.		83
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		63
HP:0025270	HP:0002015	Dysphagia	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent		37
HP:0025270	HP:0002015	Dysphagia	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0025270	HP:0002015	Dysphagia	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.		69
HP:0025270	HP:0002015	Dysphagia	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0025270	HP:0002015	Dysphagia	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0025270	HP:0002015	Dysphagia	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0025270	HP:0002015	Dysphagia	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional		54
HP:0025270	HP:0002015	Dysphagia	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0025270	HP:0002015	Dysphagia	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0025270	HP:0002015	Dysphagia	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0025270	HP:0002015	Dysphagia	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0025270	HP:0002015	Dysphagia	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		665
HP:0025270	HP:0002015	Dysphagia	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0025270	HP:0002015	Dysphagia	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0025270	HP:0002015	Dysphagia	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0025270	HP:0002015	Dysphagia	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0025270	HP:0002015	Dysphagia	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040284 - Very rare		166
HP:0025270	HP:0002015	Dysphagia	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0025270	HP:0002015	Dysphagia	1	QDPR CL E G H	5860	9752	ORPHA:226	Dihydropteridine reductase deficiency	HP:0040281 - Very frequent		43
HP:0025270	HP:0002015	Dysphagia	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.		43
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	HP:0040283 - Occasional		25
HP:0025270	HP:0002015	Dysphagia	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040282 - Frequent		150
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0025270	HP:0002015	Dysphagia	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0025270	HP:0002015	Dysphagia	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040283 - Occasional		87
HP:0025270	HP:0002015	Dysphagia	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	HP:0040283 - Occasional		87
HP:0025270	HP:0002015	Dysphagia	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		334
HP:0025270	HP:0002015	Dysphagia	1	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0025270	HP:0002015	Dysphagia	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0025270	HP:0002015	Dysphagia	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent		572
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		54
HP:0025270	HP:0002015	Dysphagia	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent		3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent		80
HP:0025270	HP:0002015	Dysphagia	1	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent		80
HP:0025270	HP:0002015	Dysphagia	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0025270	HP:0002015	Dysphagia	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0025270	HP:0002015	Dysphagia	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0025270	HP:0002015	Dysphagia	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.		3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0025270	HP:0002015	Dysphagia	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent		10
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040280 - Obligate		10
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0025270	HP:0002015	Dysphagia	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0025270	HP:0002015	Dysphagia	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		125
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		125
HP:0025270	HP:0002015	Dysphagia	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	HP:0040283 - Occasional		125
HP:0025270	HP:0002020	Gastroesophageal reflux	1	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		77
HP:0025270	HP:0002015	Dysphagia	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0025270	HP:0002015	Dysphagia	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040283 - Occasional		309
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.		8
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0025270	HP:0002015	Dysphagia	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional		34
HP:0025270	HP:0002015	Dysphagia	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional		34
HP:0025270	HP:0002015	Dysphagia	1	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.		77
HP:0025270	HP:0002015	Dysphagia	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0025270	HP:0002015	Dysphagia	1	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040283 - Occasional		263
HP:0025270	HP:0002015	Dysphagia	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0025270	HP:0002015	Dysphagia	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent		263
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		318
HP:0025270	HP:0002015	Dysphagia	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0025270	HP:0002015	Dysphagia	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0025270	HP:0002015	Dysphagia	1	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent		304
HP:0025270	HP:0002015	Dysphagia	1	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		237
HP:0025270	HP:0002015	Dysphagia	1	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent		237
HP:0025270	HP:0002015	Dysphagia	1	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.		237
HP:0025270	HP:0002015	Dysphagia	1	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		147
HP:0025270	HP:0002015	Dysphagia	1	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent		147
HP:0025270	HP:0002015	Dysphagia	1	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.		147
HP:0025270	HP:0002015	Dysphagia	1	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		129
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	HP:0040283 - Occasional		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0025270	HP:0002015	Dysphagia	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		137
HP:0025270	HP:0002015	Dysphagia	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0025270	HP:0002015	Dysphagia	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0025270	HP:0002015	Dysphagia	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		66
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0025270	HP:0002015	Dysphagia	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040282 - Frequent		64
HP:0025270	HP:0002015	Dysphagia	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0025270	HP:0002015	Dysphagia	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional		162
HP:0025270	HP:0002015	Dysphagia	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		19
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		10
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		33
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0025270	HP:0002015	Dysphagia	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0025270	HP:0002015	Dysphagia	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0025270	HP:0002015	Dysphagia	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0025270	HP:0002015	Dysphagia	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0025270	HP:0002015	Dysphagia	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		67
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0025270	HP:0002015	Dysphagia	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0025270	HP:0002015	Dysphagia	1	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		11
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002015	Dysphagia	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002015	Dysphagia	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002015	Dysphagia	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002015	Dysphagia	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002015	Dysphagia	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		32
HP:0025270	HP:0002015	Dysphagia	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0025270	HP:0002015	Dysphagia	1	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0025270	HP:0002015	Dysphagia	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0025270	HP:0002015	Dysphagia	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0025270	HP:0002015	Dysphagia	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0025270	HP:0002015	Dysphagia	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040282 - Frequent		4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0025270	HP:0002015	Dysphagia	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		28
HP:0025270	HP:0002015	Dysphagia	1	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		166
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0025270	HP:0002015	Dysphagia	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0025270	HP:0002015	Dysphagia	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm	HP:0040283 - Occasional		27
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040282 - Frequent		101
HP:0025270	HP:0002015	Dysphagia	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0025270	HP:0002015	Dysphagia	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0025270	HP:0002015	Dysphagia	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.		51
HP:0025270	HP:0002015	Dysphagia	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0025270	HP:0002015	Dysphagia	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		9
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent		13
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.		13
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		81
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0025270	HP:0002015	Dysphagia	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.		4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent		93
HP:0025270	HP:0002015	Dysphagia	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent		93
HP:0025270	HP:0002015	Dysphagia	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0025270	HP:0002015	Dysphagia	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0025270	HP:0002015	Dysphagia	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0025270	HP:0002015	Dysphagia	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		65
HP:0025270	HP:0002015	Dysphagia	1	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.		65
HP:0025270	HP:0002015	Dysphagia	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		65
HP:0025270	HP:0002015	Dysphagia	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.		35
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0025270	HP:0002015	Dysphagia	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0025270	HP:0002015	Dysphagia	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040283 - Occasional		11
HP:0025270	HP:0002015	Dysphagia	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0025270	HP:0002015	Dysphagia	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0025270	HP:0002015	Dysphagia	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0025270	HP:0002015	Dysphagia	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent		287
HP:0025270	HP:0002015	Dysphagia	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0025270	HP:0002015	Dysphagia	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0025270	HP:0002015	Dysphagia	1	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent		28
HP:0025270	HP:0002015	Dysphagia	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	HP:0040283 - Occasional		28
HP:0025270	HP:0002015	Dysphagia	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040282 - Frequent		171
HP:0025270	HP:0002015	Dysphagia	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.		171
HP:0025270	HP:0002015	Dysphagia	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040284 - Very rare		171
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5			416
HP:0025270	HP:0002015	Dysphagia	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		54
HP:0025270	HP:0002015	Dysphagia	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		149
HP:0025270	HP:0002015	Dysphagia	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0025270	HP:0002015	Dysphagia	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		62
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0025270	HP:0002015	Dysphagia	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0025270	HP:0002015	Dysphagia	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent		12
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.		9
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040282 - Frequent		9
HP:0025270	HP:0002015	Dysphagia	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0025270	HP:0002015	Dysphagia	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0025270	HP:0002015	Dysphagia	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0025270	HP:0002015	Dysphagia	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0025270	HP:0002015	Dysphagia	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0025270	HP:0002015	Dysphagia	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0025270	HP:0002015	Dysphagia	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		99
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		2
HP:0025270	HP:0002015	Dysphagia	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0025270	HP:0002015	Dysphagia	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0025270	HP:0002020	Gastroesophageal reflux	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		237
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0025270	HP:0002015	Dysphagia	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0025270	HP:0002015	Dysphagia	1	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.		9
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040282 - Frequent		1
HP:0025270	HP:0002015	Dysphagia	1	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040282 - Frequent		4
HP:0025270	HP:0002015	Dysphagia	1	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	HP:0040283 - Occasional		4
HP:0025270	HP:0002015	Dysphagia	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0025270	HP:0002015	Dysphagia	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0025270	HP:0002015	Dysphagia	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0025270	HP:0002015	Dysphagia	1	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism			21
HP:0025270	HP:0002015	Dysphagia	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0025270	HP:0002015	Dysphagia	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0025270	HP:0002015	Dysphagia	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0025270	HP:0002015	Dysphagia	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0025270	HP:0002015	Dysphagia	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		65
HP:0025270	HP:0002015	Dysphagia	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0025270	HP:0002015	Dysphagia	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0025270	HP:0002015	Dysphagia	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0025270	HP:0002015	Dysphagia	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		20
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.		7
HP:0025270	HP:0002015	Dysphagia	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0025270	HP:0002015	Dysphagia	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0002015	Dysphagia	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0025270	HP:0002015	Dysphagia	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0002015	Dysphagia	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0025270	HP:0002015	Dysphagia	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.		39
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		48
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		238
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0025270	HP:0002015	Dysphagia	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040283 - Occasional		18
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0025270	HP:0002015	Dysphagia	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002015	Dysphagia	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002015	Dysphagia	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002015	Dysphagia	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0025270	HP:0002015	Dysphagia	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		32
HP:0025270	HP:0002015	Dysphagia	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0025270	HP:0002015	Dysphagia	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0025270	HP:0002015	Dysphagia	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0025270	HP:0002015	Dysphagia	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0025270	HP:0002015	Dysphagia	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent		103
HP:0025270	HP:0002015	Dysphagia	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0025270	HP:0002015	Dysphagia	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.		103
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		5
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	HP:0040284 - Very rare
HP:0025270	HP:0002015	Dysphagia	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0025270	HP:0002015	Dysphagia	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0025270	HP:0002015	Dysphagia	1	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040283 - Occasional		140
HP:0025270	HP:0002015	Dysphagia	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0025270	HP:0002015	Dysphagia	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0025270	HP:0002015	Dysphagia	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0025270	HP:0002015	Dysphagia	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0025270	HP:0002015	Dysphagia	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0025270	HP:0002015	Dysphagia	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0025270	HP:0002015	Dysphagia	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0025270	HP:0002015	Dysphagia	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0025270	HP:0002015	Dysphagia	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0025270	HP:0031857	Ineffective esophageal peristalsis	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0025270	HP:0002015	Dysphagia	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent		2
HP:0025270	HP:0002015	Dysphagia	1	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0025270	HP:0002015	Dysphagia	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0025270	HP:0002015	Dysphagia	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent		4
HP:0025270	HP:0002015	Dysphagia	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.		3
HP:0025270	HP:0002015	Dysphagia	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0025270	HP:0002015	Dysphagia	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		3
HP:0025270	HP:0002015	Dysphagia	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		84
HP:0025270	HP:0002015	Dysphagia	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		57
HP:0025270	HP:0002015	Dysphagia	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		102
HP:0025270	HP:0002015	Dysphagia	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0025270	HP:0002015	Dysphagia	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A			102
HP:0025270	HP:0002015	Dysphagia	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040281 - Very frequent		1
HP:0025270	HP:0002015	Dysphagia	1	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11	HP:0040281 - Very frequent		57
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0025270	HP:0002015	Dysphagia	1	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.		66
HP:0025270	HP:0002015	Dysphagia	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional		66
HP:0025270	HP:0002015	Dysphagia	1	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0025270	HP:0002015	Dysphagia	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0025270	HP:0002015	Dysphagia	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	HP:0003584 - Late onset	113
HP:0025270	HP:0002015	Dysphagia	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0025270	HP:0002015	Dysphagia	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		138
HP:0025270	HP:0002015	Dysphagia	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		138
HP:0025270	HP:0002020	Gastroesophageal reflux	1	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0025270	HP:0002015	Dysphagia	1	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0025270	HP:0002020	Gastroesophageal reflux	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0025270	HP:0002015	Dysphagia	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0025270	HP:0002015	Dysphagia	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional		278
HP:0025270	HP:0002015	Dysphagia	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		278
HP:0025270	HP:0002015	Dysphagia	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		278
HP:0025270	HP:0002020	Gastroesophageal reflux	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0025270	HP:0002015	Dysphagia	1	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.		20
HP:0025270	HP:0002015	Dysphagia	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040281 - Very frequent		1
HP:0025270	HP:0002015	Dysphagia	1	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.		1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0025270	HP:0002020	Gastroesophageal reflux	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0025270	HP:0002015	Dysphagia	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.		6
HP:0025270	HP:0002015	Dysphagia	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent		2
HP:0025270	HP:0002015	Dysphagia	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0025270	HP:0002015	Dysphagia	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0025270	HP:0002015	Dysphagia	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.		2
HP:0025270	HP:0002015	Dysphagia	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0025270	HP:0002015	Dysphagia	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0025270	HP:0002015	Dysphagia	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0025270	HP:0002015	Dysphagia	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		63
HP:0025270	HP:0002015	Dysphagia	1	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0025270	HP:0002015	Dysphagia	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0025270	HP:0002015	Dysphagia	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0025270	HP:0002015	Dysphagia	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		37
HP:0025270	HP:0002020	Gastroesophageal reflux	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0025270	HP:0002015	Dysphagia	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0025270	HP:0002020	Gastroesophageal reflux	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0025270	HP:0002015	Dysphagia	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0025270	HP:0002015	Dysphagia	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0025270	HP:0002020	Gastroesophageal reflux	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0025270	HP:0002020	Gastroesophageal reflux	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0025270	HP:0002015	Dysphagia	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0025270	HP:0002020	Gastroesophageal reflux	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		199
HP:0025270	HP:0002020	Gastroesophageal reflux	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0025270	HP:0002015	Dysphagia	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.		4
HP:0025270	HP:0002015	Dysphagia	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0025270	HP:0002020	Gastroesophageal reflux	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0025270	HP:0002015	Dysphagia	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0025270	HP:0002015	Dysphagia	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0025270	HP:0002015	Dysphagia	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare		362
HP:0025270	HP:0002015	Dysphagia	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare		362
HP:0025270	HP:0002015	Dysphagia	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0025270	HP:0002015	Dysphagia	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0025270	HP:0002015	Dysphagia	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0025270	HP:0002015	Dysphagia	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0025270	HP:0002015	Dysphagia	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0025270	HP:0002015	Dysphagia	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		34
HP:0025270	HP:0002015	Dysphagia	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0025270	HP:0002015	Dysphagia	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0025270	HP:0002020	Gastroesophageal reflux	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0025270	HP:0002571	Achalasia	2	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0025270	HP:0002571	Achalasia	2	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040281 - Very frequent		57
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		96
HP:0025270	HP:0002571	Achalasia	2	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0025270	HP:0002571	Achalasia	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.		2
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent		47
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	HP:0040283 - Occasional		89
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		6
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent		48
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040283 - Occasional		25
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		38
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1003
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0025270	HP:0002571	Achalasia	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0025270	HP:0002571	Achalasia	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.		114
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.		332
HP:0025270	HP:0002571	Achalasia	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	HP:0011463 - Childhood onset	111
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional		160
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0025270	HP:0002571	Achalasia	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0025270	HP:0002571	Achalasia	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.		24
HP:0025270	HP:0002571	Achalasia	2	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040281 - Very frequent		24
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent		12
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0025270	HP:0002571	Achalasia	2	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	.
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0025270	HP:0002571	Achalasia	2	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0025270	HP:0002571	Achalasia	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		99
HP:0025270	HP:0002571	Achalasia	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		80
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		13
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040283 - Occasional		140
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040283 - Occasional		140
HP:0025270	HP:0002571	Achalasia	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		12
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0025270	HP:0002571	Achalasia	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		217
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		745
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		4
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0025270	HP:0031146	Impaired oral bolus formation	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0025270	HP:0031146	Impaired oral bolus formation	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.		144
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		337
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent		79
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040282 - Frequent		150
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0025270	HP:0002571	Achalasia	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	HP:0040283 - Occasional		8
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		66
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		66
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0025270	HP:0002571	Achalasia	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040283 - Occasional		21
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent		21
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.		12
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional		58
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		140
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		54
HP:0025270	HP:0002068	Neuromuscular dysphagia	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		108
HP:0025270	HP:0002571	Achalasia	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional		27
HP:0025270	HP:0002571	Achalasia	2	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040281 - Very frequent		27
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		3
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		3
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		84
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		84
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		57
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		57
HP:0025270	HP:0031162	Impaired oropharyngeal swallow response	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		102
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		102
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0025270	HP:0007024	Pseudobulbar paralysis	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0025270	HP:0200136	Oral-pharyngeal dysphagia	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS