Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ACTA1 CL E G H | 58 | 171430 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ACTG2 CL E G H | 72 | 155310 | Visceral myopathy | 155310 | C1835084 | OMIM | 1 | | 75 | 145 | 102545 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 818 | 225 | 146920 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ALS2 CL E G H | 57679 | 247604 | | | | ORPHA | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ALS2 CL E G H | 57679 | 606353 | Juvenile primary lateral sclerosis | 606353 | C1853396 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 108 | 10549 | 611150 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 79 | 10561 | 603680 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 445 | 1394 | 604065 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CARMIL2 CL E G H | 146206 | 618131 | IMMUNODEFICIENCY 58 | 618131 | CN253926 | OMIM | 1 | | 494 | 27089 | 610859 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CAV1 CL E G H | 857 | 220402 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CCN2 CL E G H | 1490 | 220402 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CCR6 CL E G H | 1235 | 220402 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHAT CL E G H | 1103 | 254210 | Familial infantile myasthenia | 254210 | C0393929 | OMIM | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHRNE CL E G H | 1145 | 605809 | Myasthenic syndrome, congenital, 4a, slow-channel | 605809 | C1853949 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 1 | | 870 | 2019 | 118425 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | COL7A1 CL E G H | 1294 | 79409 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | COQ4 CL E G H | 51117 | 616276 | Coenzyme Q10 deficiency, primary, 7 | 616276 | C4225392 | OMIM | 1 | | 209 | 19693 | 612898 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 230 | 2389 | 123590 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 651 | 2518 | 606272 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 1 | | 167 | 2858 | 601465 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 235 | 2933 | 605377 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | DNAJB6 CL E G H | 10049 | 34516 | | | | ORPHA | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 229 | 19087 | 607407 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 1 | | 81 | 3153 | 602201 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 1 | | 94 | 3296 | 600495 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ERLIN2 CL E G H | 11160 | 247604 | | | | ORPHA | 1 | | 159 | 1356 | 611605 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 490 | 13601 | 605654 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | FERMT1 CL E G H | 55612 | 2908 | | | | ORPHA | 1 | | 421 | 15889 | 607900 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | FLAD1 CL E G H | 80308 | 255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | 255100 | C4310822 | OMIM | 1 | | 121 | 24671 | 610595 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 409 | 4010 | 137070 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 277 | 18986 | 609471 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GEMIN4 CL E G H | 50628 | 617913 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | 617913 | CN889218 | OMIM | 1 | | 152 | 15717 | 606969 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 1 | | 255 | 11960 | 612003 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GMPPA CL E G H | 29926 | 615510 | Alacrima, achalasia, and mental retardation syndrome | 615510 | C3809738 | OMIM | 1 | | 118 | 22923 | 615495 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 428 | 4422 | 607664 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 519 | 4588 | 602717 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | GUCY1A1 CL E G H | 2982 | 615750 | Moyamoya disease 6 with achalasia | 615750 | C3810403 | OMIM | 1 | | 79 | 4685 | 139396 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | HGSNAT CL E G H | 138050 | 252930 | Mucopolysaccharidosis, MPS-III-C | 252930 | C0086649 | OMIM | 1 | | 843 | 26527 | 610453 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | HLA-DRB1 CL E G H | 3123 | 220402 | | | | ORPHA | 1 | | 24 | 4948 | 142857 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | HLA-DRB1 CL E G H | 3123 | 220393 | | | | ORPHA | 1 | | 24 | 4948 | 142857 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 32 | 5111 | 142968 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | HPCA CL E G H | 3208 | 224500 | Dystonia 2, torsion, autosomal recessive | 224500 | C1857093 | OMIM | 1 | | 31 | 5144 | 142622 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | HPRT1 CL E G H | 3251 | 300322 | Lesch-Nyhan syndrome | 300322 | C0023374 | OMIM | 1 | | 327 | 5157 | 308000 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 735 | 4851 | 613004 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 1 | | 97 | 13176 | 603023 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 167 | 14282 | 611720 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | IRF5 CL E G H | 3663 | 220393 | | | | ORPHA | 1 | | 42 | 6120 | 607218 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | IRF5 CL E G H | 3663 | 220402 | | | | ORPHA | 1 | | 42 | 6120 | 607218 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | ITGB4 CL E G H | 3691 | 158684 | | | | ORPHA | 1 | | 439 | 6158 | 147557 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KAT6B CL E G H | 23522 | 606170 | Genitopatellar syndrome | 606170 | C1853566 | OMIM | 1 | | 605 | 17582 | 605880 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 399 | 6239 | 605411 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KCNK9 CL E G H | 51305 | 612292 | Birk Barel mental retardation dysmorphism syndrome | 612292 | C2676770 | OMIM | 1 | | 90 | 6283 | 605874 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KIAA0319L CL E G H | 79932 | 220402 | | | | ORPHA | 1 | | 31 | 30071 | 613535 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 744 | 6323 | 602821 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 2137 | 6342 | 164920 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KIT CL E G H | 3815 | 606764 | Gastrointestinal stroma tumor | 606764 | C0238198 | OMIM | 1 | | 2137 | 6342 | 164920 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KLHL40 CL E G H | 131377 | 171430 | | | | ORPHA | 1 | | 378 | 30372 | 615340 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KLHL40 CL E G H | 131377 | 615348 | Nemaline myopathy 8 | 615348 | C3809209 | OMIM | 1 | | 378 | 30372 | 615340 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KLHL41 CL E G H | 10324 | 171433 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KLHL41 CL E G H | 10324 | 171430 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KLHL7 CL E G H | 55975 | 617055 | Cold-induced sweating syndrome 3 | 617055 | C4310742 | OMIM | 1 | | 258 | 15646 | 611119 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | LBR CL E G H | 3930 | 779 | Arthrogryposis due to muscular dystrophy | | | ORPHA | 1 | | 285 | 6518 | 600024 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | LINGO1 CL E G H | 84894 | 618103 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 | 618103 | CN253431 | OMIM | 1 | | 41 | 21205 | 609791 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | LMOD3 CL E G H | 56203 | 171430 | | | | ORPHA | 1 | | 326 | 6649 | 616112 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 1 | | 2226 | 18618 | 609007 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MAP2K2 CL E G H | 5605 | 638 | | | | ORPHA | 1 | | 599 | 6842 | 601263 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 333 | 6912 | 164015 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 333 | 6912 | 164015 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 85 | 19691 | 608205 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MED17 CL E G H | 9440 | 613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | 613668 | C3150921 | OMIM | 1 | | 357 | 2375 | 603810 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 117 | 24858 | 614785 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 78 | 16205 | 615076 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MID1 CL E G H | 4281 | 300000 | Opitz-Frias syndrome | 300000 | C0175696 | OMIM | 1 | | 355 | 7095 | 300552 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 72 | 7155 | 120353 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MYH8 CL E G H | 4626 | 158300 | Hecht syndrome | 158300 | C0265226 | OMIM | 1 | | 289 | 7578 | 160741 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 1 | | 172 | 7608 | 604875 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MYO9A CL E G H | 4649 | 618198 | MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC | 618198 | | OMIM | 1 | | 172 | 7608 | 604875 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 56 | 7690 | 602138 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 115 | 28086 | 609653 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NDUFS1 CL E G H | 4719 | 618226 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | 618226 | | OMIM | 1 | | 332 | 7707 | 157655 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NEB CL E G H | 4703 | 171433 | | | | ORPHA | 1 | | 6444 | 7720 | 161650 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NEB CL E G H | 4703 | 171430 | | | | ORPHA | 1 | | 6444 | 7720 | 161650 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NF1 CL E G H | 4763 | 638 | | | | ORPHA | 1 | | 10917 | 7765 | 613113 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 1693 | 7897 | 607623 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 183 | 14537 | 601015 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 97 | 8066 | 605815 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | NUP62 CL E G H | 23636 | 271930 | Striatonigral degeneration infantile | 271930 | C0795996 | OMIM | 1 | | 97 | 8066 | 605815 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | OPTN CL E G H | 10133 | 613435 | Amyotrophic lateral sclerosis type 12 | 613435 | C3150692 | OMIM | 1 | | 328 | 17142 | 602432 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 371 | 15894 | 606157 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PCNA CL E G H | 5111 | 615919 | Ataxia-telangiectasia-like disorder 2 | 615919 | C4014676 | OMIM | 1 | | 41 | 8729 | 176740 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 179 | 8794 | 603390 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 2424 | 8803 | 173490 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PDGFRA CL E G H | 5156 | 606764 | Gastrointestinal stroma tumor | 606764 | C0238198 | OMIM | 1 | | 2424 | 8803 | 173490 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 128 | 9279 | 605993 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 346 | 8857 | 603360 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PFN1 CL E G H | 5216 | 614808 | Amyotrophic lateral sclerosis 18 | 614808 | C3553719 | OMIM | 1 | | 87 | 8881 | 176610 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PLEC CL E G H | 5339 | 158684 | | | | ORPHA | 1 | | 4152 | 9069 | 601282 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 391 | 9086 | 300401 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 1 | | 118 | 9107 | 604282 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PNKD CL E G H | 25953 | 118800 | Paroxysmal nonkinesigenic dyskinesia 1 | 118800 | | OMIM | 1 | | 426 | 9153 | 609023 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 785 | 30074 | 614258 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 785 | 30074 | 614258 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 785 | 30074 | 614258 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 368 | 30348 | 614366 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 1 | | 1081 | 14000 | 605557 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 290 | 9402 | 176980 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PRKRA CL E G H | 8575 | 210571 | | | | ORPHA | 1 | | 163 | 9438 | 603424 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 163 | 9438 | 603424 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 452 | 9508 | 104311 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | QDPR CL E G H | 5860 | 226 | | | | ORPHA | 1 | | 259 | 9752 | 612676 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 259 | 9752 | 612676 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 1 | | 343 | 9965 | 605226 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 1 | | 133 | 9968 | 602776 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | RHBDF2 CL E G H | 79651 | 2198 | | | | ORPHA | 1 | | 176 | 20788 | 614404 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 187 | 13429 | 300379 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | RNASEH1 CL E G H | 246243 | 329336 | | | | ORPHA | 1 | | 104 | 18466 | 604123 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | RNASEH1 CL E G H | 246243 | 616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 | C4225312 | OMIM | 1 | | 104 | 18466 | 604123 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | RRM2B CL E G H | 50484 | 329336 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | RYR1 CL E G H | 6261 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 422 | 1665 | 602257 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SCN3A CL E G H | 6328 | 617938 | Early infantile epileptic encephalopathy 62 | 617938 | CN244551 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SCN4A CL E G H | 6329 | 684 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 2186 | 10680 | 600857 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SDHB CL E G H | 6390 | 97286 | | | | ORPHA | 1 | | 1099 | 10681 | 185470 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 1099 | 10681 | 185470 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SDHB CL E G H | 6390 | 606764 | Gastrointestinal stroma tumor | 606764 | C0238198 | OMIM | 1 | | 1099 | 10681 | 185470 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 702 | 10682 | 602413 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SDHC CL E G H | 6391 | 97286 | | | | ORPHA | 1 | | 702 | 10682 | 602413 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SDHC CL E G H | 6391 | 606764 | Gastrointestinal stroma tumor | 606764 | C0238198 | OMIM | 1 | | 702 | 10682 | 602413 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SDHD CL E G H | 6392 | 97286 | | | | ORPHA | 1 | | 607 | 10683 | 602690 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SELENON CL E G H | 57190 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 451 | 10727 | 608166 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SERPING1 CL E G H | 710 | 100050 | | | | ORPHA | 1 | | 376 | 1228 | 606860 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 779 | 11142 | 605705 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 1 | | 910 | 10896 | 164780 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC18A3 CL E G H | 6572 | 98914 | | | | ORPHA | 1 | | 215 | 10936 | 600336 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC25A1 CL E G H | 6576 | 98914 | | | | ORPHA | 1 | | 505 | 10979 | 190315 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 478 | 19954 | 609302 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 458 | 30224 | 607882 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 399 | 16187 | 613350 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC52A3 CL E G H | 113278 | 211530 | Brown-Vialetto-Van Laere syndrome 1 | 211530 | CN029849 | OMIM | 1 | | 399 | 16187 | 613350 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC52A3 CL E G H | 113278 | 211500 | Progressive bulbar palsy of childhood | 211500 | C0393540 | OMIM | 1 | | 399 | 16187 | 613350 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC5A7 CL E G H | 60482 | 98914 | | | | ORPHA | 1 | | 375 | 14025 | 608761 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC5A7 CL E G H | 60482 | 617143 | Myasthenic syndrome, congenital, 20, presynaptic | 617143 | C4310694 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 168 | 11056 | 601019 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC9A6 CL E G H | 10479 | 85278 | | | | ORPHA | 1 | | 536 | 11079 | 300231 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SLC9A6 CL E G H | 10479 | 300243 | Christianson syndrome | 300243 | C2678194 | OMIM | 1 | | 536 | 11079 | 300231 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SNAP25 CL E G H | 6616 | 98914 | | | | ORPHA | 1 | | 191 | 11132 | 600322 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 177 | 11138 | 163890 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SPART CL E G H | 23111 | 101000 | | | | ORPHA | 1 | | 274 | 18514 | 607111 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SPECC1L CL E G H | 23384 | 145410 | Opitz G/BBB syndrome | 145410 | C1801950 | OMIM | 1 | | 230 | 29022 | 614140 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SPG21 CL E G H | 51324 | 101001 | | | | ORPHA | 1 | | 145 | 20373 | 608181 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SPG7 CL E G H | 6687 | 35689 | | | | ORPHA | 1 | | 778 | 11237 | 602783 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 778 | 11237 | 602783 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 542 | 11280 | 601530 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SYT14 CL E G H | 255928 | 284271 | | | | ORPHA | 1 | | 92 | 23143 | 610949 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | SYT2 CL E G H | 127833 | 98914 | | | | ORPHA | 1 | | 160 | 11510 | 600104 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 259 | 11571 | 605078 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TARDBP CL E G H | 23435 | 612069 | Amyotrophic lateral sclerosis type 10 | 612069 | C2677565 | OMIM | 1 | | 259 | 11571 | 605078 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 294 | 11584 | 604834 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 294 | 11584 | 604834 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 217 | 11817 | 300356 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 1 | | 356 | 11831 | 188250 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TK2 CL E G H | 7084 | 617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 617069 | C4310734 | OMIM | 1 | | 356 | 11831 | 188250 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TPM2 CL E G H | 7169 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TPM3 CL E G H | 7170 | 171433 | | | | ORPHA | 1 | | 300 | 12012 | 191030 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TPM3 CL E G H | 7170 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TPM3 CL E G H | 7170 | 609284 | Nemaline myopathy 1 | 609284 | C1836448 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 114 | 24284 | 614139 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TTBK2 CL E G H | 146057 | 98767 | | | | ORPHA | 1 | | 234 | 19141 | 611695 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TUBB4A CL E G H | 10382 | 128101 | Autosomal dominant torsion dystonia 4 | 128101 | C1851943 | OMIM | 1 | | 219 | 20774 | 602662 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 223 | 12509 | 300264 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 55 | 12511 | 600673 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | VAC14 CL E G H | 55697 | 617054 | Striatonigral degeneration, childhood-onset | 617054 | C4310743 | OMIM | 1 | | 220 | 25507 | 604632 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | VAMP1 CL E G H | 6843 | 98914 | | | | ORPHA | 1 | | 118 | 12642 | 185880 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | VAMP1 CL E G H | 6843 | 251282 | | | | ORPHA | 1 | | 118 | 12642 | 185880 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 118 | 12642 | 185880 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 473 | 12666 | 601023 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 1735 | 1908 | 605978 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 1 | | 184 | 13487 | 601501 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1268 | 12762 | 606201 |
HP:0002015 | HP:0002015 | Dysphagia | 0 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 156 | 24249 | 610957 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ACTA1 CL E G H | 58 | 171430 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ACTA1 CL E G H | 58 | 171430 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ACTA1 CL E G H | 58 | 171430 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ACTA1 CL E G H | 58 | 171430 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ACTA1 CL E G H | 58 | 171430 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ACTG2 CL E G H | 72 | 155310 | Visceral myopathy | 155310 | C1835084 | OMIM | 1 | | 75 | 145 | 102545 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ACTG2 CL E G H | 72 | 155310 | Visceral myopathy | 155310 | C1835084 | OMIM | 1 | | 75 | 145 | 102545 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ACTG2 CL E G H | 72 | 155310 | Visceral myopathy | 155310 | C1835084 | OMIM | 1 | | 75 | 145 | 102545 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ACTG2 CL E G H | 72 | 155310 | Visceral myopathy | 155310 | C1835084 | OMIM | 1 | | 75 | 145 | 102545 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ACTG2 CL E G H | 72 | 155310 | Visceral myopathy | 155310 | C1835084 | OMIM | 1 | | 75 | 145 | 102545 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 818 | 225 | 146920 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 818 | 225 | 146920 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 818 | 225 | 146920 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 818 | 225 | 146920 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 818 | 225 | 146920 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ALS2 CL E G H | 57679 | 247604 | | | | ORPHA | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ALS2 CL E G H | 57679 | 247604 | | | | ORPHA | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ALS2 CL E G H | 57679 | 247604 | | | | ORPHA | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ALS2 CL E G H | 57679 | 247604 | | | | ORPHA | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ALS2 CL E G H | 57679 | 247604 | | | | ORPHA | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ALS2 CL E G H | 57679 | 606353 | Juvenile primary lateral sclerosis | 606353 | C1853396 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ALS2 CL E G H | 57679 | 606353 | Juvenile primary lateral sclerosis | 606353 | C1853396 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ALS2 CL E G H | 57679 | 606353 | Juvenile primary lateral sclerosis | 606353 | C1853396 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ALS2 CL E G H | 57679 | 606353 | Juvenile primary lateral sclerosis | 606353 | C1853396 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ALS2 CL E G H | 57679 | 606353 | Juvenile primary lateral sclerosis | 606353 | C1853396 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 108 | 10549 | 611150 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 108 | 10549 | 611150 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 108 | 10549 | 611150 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 108 | 10549 | 611150 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 108 | 10549 | 611150 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 1 | | 42 | 10560 | 607640 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 79 | 10561 | 603680 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 79 | 10561 | 603680 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 79 | 10561 | 603680 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 79 | 10561 | 603680 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 79 | 10561 | 603680 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 445 | 1394 | 604065 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 445 | 1394 | 604065 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 445 | 1394 | 604065 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 445 | 1394 | 604065 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 445 | 1394 | 604065 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CARMIL2 CL E G H | 146206 | 618131 | IMMUNODEFICIENCY 58 | 618131 | CN253926 | OMIM | 1 | | 494 | 27089 | 610859 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CARMIL2 CL E G H | 146206 | 618131 | IMMUNODEFICIENCY 58 | 618131 | CN253926 | OMIM | 1 | | 494 | 27089 | 610859 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CARMIL2 CL E G H | 146206 | 618131 | IMMUNODEFICIENCY 58 | 618131 | CN253926 | OMIM | 1 | | 494 | 27089 | 610859 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CARMIL2 CL E G H | 146206 | 618131 | IMMUNODEFICIENCY 58 | 618131 | CN253926 | OMIM | 1 | | 494 | 27089 | 610859 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CARMIL2 CL E G H | 146206 | 618131 | IMMUNODEFICIENCY 58 | 618131 | CN253926 | OMIM | 1 | | 494 | 27089 | 610859 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CAV1 CL E G H | 857 | 220402 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CAV1 CL E G H | 857 | 220402 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CAV1 CL E G H | 857 | 220402 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CAV1 CL E G H | 857 | 220393 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CAV1 CL E G H | 857 | 220402 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CAV1 CL E G H | 857 | 220402 | | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CCN2 CL E G H | 1490 | 220402 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CCN2 CL E G H | 1490 | 220402 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CCN2 CL E G H | 1490 | 220402 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CCN2 CL E G H | 1490 | 220402 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CCN2 CL E G H | 1490 | 220393 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CCN2 CL E G H | 1490 | 220402 | | | | ORPHA | 1 | | 26 | 2500 | 121009 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CCR6 CL E G H | 1235 | 220402 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CCR6 CL E G H | 1235 | 220402 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CCR6 CL E G H | 1235 | 220402 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CCR6 CL E G H | 1235 | 220402 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CCR6 CL E G H | 1235 | 220402 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CCR6 CL E G H | 1235 | 220393 | | | | ORPHA | 1 | | 53 | 1607 | 601835 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHAT CL E G H | 1103 | 254210 | Familial infantile myasthenia | 254210 | C0393929 | OMIM | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHAT CL E G H | 1103 | 254210 | Familial infantile myasthenia | 254210 | C0393929 | OMIM | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHAT CL E G H | 1103 | 254210 | Familial infantile myasthenia | 254210 | C0393929 | OMIM | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHAT CL E G H | 1103 | 254210 | Familial infantile myasthenia | 254210 | C0393929 | OMIM | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHAT CL E G H | 1103 | 254210 | Familial infantile myasthenia | 254210 | C0393929 | OMIM | 1 | | 771 | 1912 | 118490 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHRNE CL E G H | 1145 | 605809 | Myasthenic syndrome, congenital, 4a, slow-channel | 605809 | C1853949 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHRNE CL E G H | 1145 | 605809 | Myasthenic syndrome, congenital, 4a, slow-channel | 605809 | C1853949 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHRNE CL E G H | 1145 | 605809 | Myasthenic syndrome, congenital, 4a, slow-channel | 605809 | C1853949 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHRNE CL E G H | 1145 | 605809 | Myasthenic syndrome, congenital, 4a, slow-channel | 605809 | C1853949 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHRNE CL E G H | 1145 | 605809 | Myasthenic syndrome, congenital, 4a, slow-channel | 605809 | C1853949 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 1 | | 870 | 2019 | 118425 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 1 | | 870 | 2019 | 118425 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 1 | | 870 | 2019 | 118425 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 1 | | 870 | 2019 | 118425 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 1 | | 870 | 2019 | 118425 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | COL7A1 CL E G H | 1294 | 79409 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | COL7A1 CL E G H | 1294 | 79409 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | COL7A1 CL E G H | 1294 | 79409 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | COL7A1 CL E G H | 1294 | 79409 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | COL7A1 CL E G H | 1294 | 79409 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 465 | 2226 | 603033 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | COQ4 CL E G H | 51117 | 616276 | Coenzyme Q10 deficiency, primary, 7 | 616276 | C4225392 | OMIM | 1 | | 209 | 19693 | 612898 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | COQ4 CL E G H | 51117 | 616276 | Coenzyme Q10 deficiency, primary, 7 | 616276 | C4225392 | OMIM | 1 | | 209 | 19693 | 612898 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | COQ4 CL E G H | 51117 | 616276 | Coenzyme Q10 deficiency, primary, 7 | 616276 | C4225392 | OMIM | 1 | | 209 | 19693 | 612898 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | COQ4 CL E G H | 51117 | 616276 | Coenzyme Q10 deficiency, primary, 7 | 616276 | C4225392 | OMIM | 1 | | 209 | 19693 | 612898 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | COQ4 CL E G H | 51117 | 616276 | Coenzyme Q10 deficiency, primary, 7 | 616276 | C4225392 | OMIM | 1 | | 209 | 19693 | 612898 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 230 | 2389 | 123590 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 230 | 2389 | 123590 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 230 | 2389 | 123590 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 230 | 2389 | 123590 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 230 | 2389 | 123590 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 651 | 2518 | 606272 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 651 | 2518 | 606272 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 651 | 2518 | 606272 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 651 | 2518 | 606272 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 651 | 2518 | 606272 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 249 | 29106 | 615003 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 1 | | 167 | 2858 | 601465 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 1 | | 167 | 2858 | 601465 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 1 | | 167 | 2858 | 601465 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 1 | | 167 | 2858 | 601465 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 1 | | 167 | 2858 | 601465 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 235 | 2933 | 605377 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 235 | 2933 | 605377 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 235 | 2933 | 605377 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 235 | 2933 | 605377 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 235 | 2933 | 605377 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | DNAJB6 CL E G H | 10049 | 34516 | | | | ORPHA | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | DNAJB6 CL E G H | 10049 | 34516 | | | | ORPHA | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | DNAJB6 CL E G H | 10049 | 34516 | | | | ORPHA | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | DNAJB6 CL E G H | 10049 | 34516 | | | | ORPHA | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | DNAJB6 CL E G H | 10049 | 34516 | | | | ORPHA | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002015 | HP:0007024 | Pseudobulbar paralysis | 1 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 229 | 19087 | 607407 |
HP:0002015 | HP:0031146 | Impaired oral bolus formation | 1 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 229 | 19087 | 607407 |
HP:0002015 | HP:0200136 | Oral-pharyngeal dysphagia | 1 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 229 | 19087 | 607407 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 229 | 19087 | 607407 |
HP:0002015 | HP:0031162 | Impaired oropharyngeal swallow response | 1 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 229 | 19087 | 607407 |
HP:0002015 | HP:0002068 | Neuromuscular dysphagia | 1 | ECM1 CL |