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:0001265 | HP:0001265 | Hyporeflexia | 0 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ACO2 CL E G H | 50 | 614559 | Infantile cerebellar-retinal degeneration | 614559 | C3281192 | OMIM | 1 | | 507 | 118 | 100850 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ACTA1 CL E G H | 58 | 171436 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ACTA1 CL E G H | 58 | 171439 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ACTA1 CL E G H | 58 | 97244 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 457 | 473 | 238310 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 437 | 567 | 602166 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 71 | 29561 | 611647 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ATP1A1 CL E G H | 476 | 618036 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | 618036 | CN248781 | OMIM | 1 | | 272 | 799 | 182310 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 53 | 10555 | 601517 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 166 | 15685 | 605517 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 35 | 24160 | 612051 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | BICD2 CL E G H | 23299 | 615290 | Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant | 615290 | C3809049 | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | BSND CL E G H | 7809 | 602522 | Bartter syndrome type 4 | 602522 | C1865270 | OMIM | 1 | | 249 | 16512 | 606412 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CACNA1S CL E G H | 779 | 79102 | | | | ORPHA | 1 | | 1504 | 1397 | 114208 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CFL2 CL E G H | 1073 | 171436 | | | | ORPHA | 1 | | 147 | 1875 | 601443 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CLCNKA CL E G H | 1187 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 184 | 2026 | 602024 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CLCNKB CL E G H | 1188 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 390 | 2092 | 118955 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 264 | 19701 | 300724 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1258 | 2202 | 120130 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | COX6A1 CL E G H | 1337 | 616039 | Charcot-Marie-Tooth disease, recessive intermediate d | 616039 | C4015029 | OMIM | 1 | | 74 | 2277 | 602072 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 230 | 2389 | 123590 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 416 | 13760 | 606323 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 496 | 2666 | 128239 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 1 | | 294 | 25538 | 610956 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 318 | 20603 | 608172 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DMD CL E G H | 1756 | 300376 | Becker muscular dystrophy | 300376 | C0917713 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DMD CL E G H | 1756 | 310200 | Duchenne muscular dystrophy | 310200 | C0013264 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 622 | 2972 | 602377 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | DYNC1H1 CL E G H | 1778 | 614563 | Mental retardation, autosomal dominant 13 | 614563 | C3281202 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 493 | 3192 | 602959 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ELOVL4 CL E G H | 6785 | 1955 | | | | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 242 | 14415 | 605512 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1458 | 5959 | 603722 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ELP1 CL E G H | 8518 | 223900 | Familial dysautonomia | 223900 | C0013364 | OMIM | 1 | | 1458 | 5959 | 603722 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FDX2 CL E G H | 112812 | 251900 | Mitochondrial myopathy | 251900 | C0162670 | OMIM | 1 | | 73 | 30546 | 614585 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FGD4 CL E G H | 121512 | 609311 | Charcot-Marie-Tooth disease, type 4H | 609311 | C1836336 | OMIM | 1 | | 659 | 19125 | 611104 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 210 | 3668 | 601513 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FHL1 CL E G H | 2273 | 300718 | Myopathy, reducing body, X-linked, childhood-onset | 300718 | C2678015 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FHL1 CL E G H | 2273 | 300717 | Myopathy, reducing body, X-linked, early-onset, severe | 300717 | C2678027 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FHL1 CL E G H | 2273 | 300695 | Scapuloperoneal myopathy, X-linked dominant | 300695 | C2678061 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FKRP CL E G H | 79147 | 613153 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 613153 | C3150413 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FLNC CL E G H | 2318 | 614065 | Myopathy, distal, 4 | 614065 | C3279722 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 409 | 4010 | 137070 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | GABRA3 CL E G H | 2556 | 79102 | | | | ORPHA | 1 | | 212 | 4077 | 305660 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 421 | 4082 | 600232 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 162 | 4208 | 238330 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 1816 | 4313 | 238300 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | GNB4 CL E G H | 59345 | 615185 | Charcot-Marie-Tooth disease, dominant intermediate F | 615185 | C3554654 | OMIM | 1 | | 221 | 20731 | 610863 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 519 | 4588 | 602717 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 635 | 4845 | 602780 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 391 | 4922 | 142600 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | HNRNPDL CL E G H | 9987 | 609115 | Limb-girdle muscular dystrophy, type 1G | 609115 | C1836765 | OMIM | 1 | | 248 | 5037 | 607137 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | IARS2 CL E G H | 55699 | 616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 616007 | C4014942 | OMIM | 1 | | 289 | 29685 | 612801 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | IGHMBP2 CL E G H | 3508 | 616155 | Charcot-Marie-Tooth disease, axonal, type 2S | 616155 | C4015349 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1150 | 23791 | 610982 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 647 | 37276 | 614631 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KARS CL E G H | 3735 | 613641 | Charcot-Marie-Tooth disease, recessive intermediate B | 613641 | C3150897 | OMIM | 1 | | | 6215 | 601421 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KBTBD13 CL E G H | 390594 | 171439 | | | | ORPHA | 1 | | 431 | 37227 | 613727 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 325 | 6220 | 176262 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 518 | 6231 | 600397 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 1 | | 399 | 6239 | 605411 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 399 | 6239 | 605411 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KCNJ18 CL E G H | 100134444 | 79102 | | | | ORPHA | 1 | | 11 | 39080 | 613236 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KIAA0586 CL E G H | 9786 | 616546 | Short-rib thoracic dysplasia 14 with polydactyly | 616546 | C4225286 | OMIM | 1 | | 828 | 19960 | 610178 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KIF1A CL E G H | 547 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KIF1A CL E G H | 547 | 614213 | Hereditary sensory and autonomic neuropathy type IIC | 614213 | C3280168 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KLHL41 CL E G H | 10324 | 171433 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KLHL41 CL E G H | 10324 | 171439 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KLHL41 CL E G H | 10324 | 171436 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 270 | 16841 | 603795 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | LMOD3 CL E G H | 56203 | 171436 | | | | ORPHA | 1 | | 326 | 6649 | 616112 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | LPIN1 CL E G H | 23175 | 268200 | Myoglobinuria, acute recurrent, autosomal recessive | 268200 | C1849386 | OMIM | 1 | | 401 | 13345 | 605518 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | LRP4 CL E G H | 4038 | 616304 | Myasthenic syndrome, congenital, 17 | 616304 | C4225377 | OMIM | 1 | | 790 | 6696 | 604270 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | LYST CL E G H | 1130 | 214500 | Chédiak-Higashi syndrome | 214500 | C0007965 | OMIM | 1 | | 1754 | 1968 | 606897 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MAG CL E G H | 4099 | 459056 | | | | ORPHA | 1 | | 171 | 6783 | 159460 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MCM3AP CL E G H | 8888 | 618124 | PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | 618124 | CN253838 | OMIM | 1 | | 721 | 6946 | 603294 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 78 | 16205 | 615076 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MME CL E G H | 4311 | 617017 | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | C4015635 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 200 | 7224 | 137960 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1729 | 7230 | 600814 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MSTO1 CL E G H | 55154 | 502423 | | | | ORPHA | 1 | | 85 | 29678 | 617619 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 85 | 29678 | 617619 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MT-TE CL E G H | 4556 | 254864 | | | | ORPHA | 1 | | | 7479 | 590025 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MT-TW CL E G H | 4578 | 251900 | Mitochondrial myopathy | 251900 | C0162670 | OMIM | 1 | | | 7501 | 590095 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MTPAP CL E G H | 55149 | 613672 | Ataxia, spastic, 4, autosomal recessive | 613672 | C3150925 | OMIM | 1 | | 199 | 25532 | 613669 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MYH14 CL E G H | 79784 | 397744 | | | | ORPHA | 1 | | 857 | 23212 | 608568 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 295 | 12399 | 604103 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | MYPN CL E G H | 84665 | 171439 | | | | ORPHA | 1 | | 1263 | 23246 | 608517 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NAGLU CL E G H | 4669 | 616491 | Charcot-Marie-Tooth disease, axonal type 2V | 616491 | C4225306 | OMIM | 1 | | 775 | 7632 | 609701 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 642 | 7679 | 605262 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 179 | 7693 | 603834 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 104 | 7711 | 602694 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NEB CL E G H | 4703 | 171436 | | | | ORPHA | 1 | | 6444 | 7720 | 161650 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NEB CL E G H | 4703 | 171439 | | | | ORPHA | 1 | | 6444 | 7720 | 161650 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NEB CL E G H | 4703 | 171433 | | | | ORPHA | 1 | | 6444 | 7720 | 161650 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 167 | 24539 | 611623 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NEFH CL E G H | 4744 | 616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | C4310790 | OMIM | 1 | | 465 | 7737 | 162230 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 333 | 8032 | 600456 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 220 | 21042 | 610463 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | OTOG CL E G H | 340990 | 614945 | Deafness, autosomal recessive 18b | 614945 | C3554163 | OMIM | 1 | | 951 | 8516 | 604487 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PDK3 CL E G H | 5165 | 300905 | Charcot-Marie-Tooth disease, X-linked dominant, 6 | 300905 | C3806702 | OMIM | 1 | | 294 | 8811 | 300906 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PEX1 CL E G H | 5189 | 214100 | Zellweger syndrome | 214100 | C0043459 | OMIM | 1 | | 1205 | 8850 | 602136 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PEX12 CL E G H | 5193 | 266510 | Infantile Refsum's disease | 266510 | C0282527 | OMIM | 1 | | 360 | 8854 | 601758 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 366 | 9717 | 170993 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PEX5 CL E G H | 5830 | 616716 | Rhizomelic chondrodysplasia punctata type 5 | 616716 | C4225237 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 265 | 8907 | 172100 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 303 | 8940 | 602026 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PIGG CL E G H | 54872 | 616917 | Mental retardation, autosomal recessive 53 | 616917 | C4310794 | OMIM | 1 | | 855 | 25985 | 616918 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 1 | | 857 | 8967 | 606097 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PIGN CL E G H | 23556 | 614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 614080 | C3279775 | OMIM | 1 | | 857 | 8967 | 606097 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PIK3R5 CL E G H | 23533 | 615217 | Ataxia-oculomotor apraxia 3 | 615217 | C3554690 | OMIM | 1 | | 48 | 30035 | 611317 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 609 | 9115 | 601785 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PMP22 CL E G H | 5376 | 98916 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PMP22 CL E G H | 5376 | 162500 | Hereditary liability to pressure palsies | 162500 | C0393814 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PNPT1 CL E G H | 87178 | 614932 | Combined oxidative phosphorylation deficiency 13 | 614932 | C3554129 | OMIM | 1 | | 526 | 23166 | 610316 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0001265 | HP:0001265 | Hyporeflexia | 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:0001265 | HP:0001265 | Hyporeflexia | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 346 | 25902 | 614828 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 244 | 26267 | 615247 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | POMK CL E G H | 84197 | 616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 616094 | C4015184 | OMIM | 1 | | 244 | 26267 | 615247 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | POMT2 CL E G H | 29954 | 613156 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 613156 | C3150416 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 233 | 9314 | 114105 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 598 | 9498 | 176801 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 598 | 9498 | 176801 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 598 | 9498 | 176801 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PSAP CL E G H | 5660 | 611722 | Krabbe disease atypical due to Saposin A deficiency | 611722 | C2673266 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 1 | | 1149 | 9834 | 607642 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RAI1 CL E G H | 10743 | 182290 | Smith-Magenis syndrome | 182290 | C0795864 | OMIM | 1 | | 1149 | 9834 | 607642 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RETREG1 CL E G H | 54463 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RETREG1 CL E G H | 54463 | 613115 | Hereditary sensory and autonomic neuropathy type IIB | 613115 | C2751092 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 193 | 21176 | 614917 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RNF170 CL E G H | 81790 | 608984 | Ataxia, sensory, autosomal dominant | 608984 | C1837015 | OMIM | 1 | | 68 | 25358 | 614649 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 118 | 28991 | 613516 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RUBCN CL E G H | 9711 | 615705 | Spinocerebellar ataxia, autosomal recessive 15 | 615705 | C3810326 | OMIM | 1 | | 118 | 28991 | 613516 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RXYLT1 CL E G H | 10329 | 899 | | | | ORPHA | 1 | | 213 | 13530 | 605862 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | RYR1 CL E G H | 6261 | 324581 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1226 | 2135 | 607697 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1096 | 10590 | 182391 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SCN9A CL E G H | 6335 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 73 | 14372 | 607982 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SCYL1 CL E G H | 57410 | 616719 | Spinocerebellar ataxia, autosomal recessive 21 | 616719 | C4225236 | OMIM | 1 | | 73 | 14372 | 607982 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SELENON CL E G H | 57190 | 97244 | | | | ORPHA | 1 | | 537 | 15999 | 606210 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SHANK3 CL E G H | 85358 | 606232 | 22q13.3 deletion syndrome | 606232 | C1853490 | OMIM | 1 | | 776 | 14294 | 606230 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 568 | 23089 | 608305 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 236 | 10940 | 600300 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SLC25A19 CL E G H | 60386 | 613710 | Striatal necrosis, bilateral, and progressive polyneuropathy | 613710 | C3150973 | OMIM | 1 | | 136 | 14409 | 606521 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 325 | 25198 | 610826 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 458 | 30224 | 607882 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 399 | 16187 | 613350 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SMN1 CL E G H | 6606 | 253400 | Kugelberg-Welander disease | 253400 | C0152109 | OMIM | 1 | | 208 | 11117 | 600354 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SNIP1 CL E G H | 79753 | 614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 614501 | C3281055 | OMIM | 1 | | 132 | 30587 | 608241 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SNX14 CL E G H | 57231 | 616354 | Spinocerebellar ataxia, autosomal recessive 20 | 616354 | C4225355 | OMIM | 1 | | 162 | 14977 | 616105 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 331 | 11277 | 605712 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | STAC3 CL E G H | 246329 | 255995 | Native American myopathy | 255995 | C1850625 | OMIM | 1 | | 188 | 28423 | 615521 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 871 | 11444 | 602926 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 309 | 11448 | 603921 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 309 | 11448 | 603921 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1086 | 11497 | 603384 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 160 | 11510 | 600104 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2342 | 29040 | 615463 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | SZT2 CL E G H | 23334 | 615476 | Early infantile epileptic encephalopathy 18 | 615476 | C3809624 | OMIM | 1 | | 2342 | 29040 | 615463 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 1 | | 795 | 29203 | 613577 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TBC1D24 CL E G H | 57465 | 220500 | Digitorenocerebral syndrome | 220500 | C1857345 | OMIM | 1 | | 795 | 29203 | 613577 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 482 | 28261 | 616899 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 294 | 11584 | 604834 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TGFB3 CL E G H | 7043 | 615582 | Loeys-Dietz syndrome 5 | 615582 | C3810012 | OMIM | 1 | | 469 | 11769 | 190230 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 356 | 11831 | 188250 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 192 | 25186 | 616101 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TPI1 CL E G H | 7167 | 615512 | Triosephosphate isomerase deficiency | 615512 | C1860808 | OMIM | 1 | | 144 | 12009 | 190450 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TPM2 CL E G H | 7169 | 171436 | | | | ORPHA | 1 | | 280 | 12011 | 190990 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TPM2 CL E G H | 7169 | 171439 | | | | ORPHA | 1 | | 280 | 12011 | 190990 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TPM2 CL E G H | 7169 | 609285 | Nemaline myopathy 4 | 609285 | C1836447 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TPM3 CL E G H | 7170 | 171439 | | | | ORPHA | 1 | | 300 | 12012 | 191030 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TPM3 CL E G H | 7170 | 171433 | | | | ORPHA | 1 | | 300 | 12012 | 191030 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 106 | 29947 | 608112 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TRAPPC11 CL E G H | 60684 | 369840 | | | | ORPHA | 1 | | 774 | 25751 | 614138 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TRIM32 CL E G H | 22954 | 254110 | Sarcotubular myopathy | 254110 | C0270968 | OMIM | 1 | | 516 | 16380 | 602290 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TRMT5 CL E G H | 57570 | 616539 | Combined oxidative phosphorylation deficiency 26 | 616539 | C4225290 | OMIM | 1 | | 98 | 23141 | 611023 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TRMU CL E G H | 55687 | 254864 | | | | ORPHA | 1 | | 518 | 25481 | 610230 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TRPV4 CL E G H | 59341 | 181405 | Scapuloperoneal spinal muscular atrophy | 181405 | C0751335 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 341 | 12405 | 176300 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TUBA8 CL E G H | 51807 | 613180 | Polymicrogyria with optic nerve hypoplasia | 613180 | C2750798 | OMIM | 1 | | 242 | 12410 | 605742 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0001265 | HP:0001265 | Hyporeflexia | 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:0001265 | HP:0001265 | Hyporeflexia | 0 | TWNK CL E G H | 56652 | 616138 | Perrault syndrome 5 | 616138 | C4015307 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 157 | 23230 | 610552 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | VAPB CL E G H | 9217 | 182980 | Adult proximal spinal muscular atrophy, autosomal dominant | 182980 | C1866777 | OMIM | 1 | | 319 | 12649 | 605704 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 1735 | 1908 | 605978 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | WDR81 CL E G H | 124997 | 610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 610185 | C2750234 | OMIM | 1 | | 266 | 26600 | 614218 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | WNK1 CL E G H | 65125 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1448 | 14540 | 605232 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 967 | 12799 | 605131 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | WWOX CL E G H | 51741 | 284282 | | | | ORPHA | 1 | | 967 | 12799 | 605131 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | WWOX CL E G H | 51741 | 614322 | Spinocerebellar ataxia, autosomal recessive 12 | 614322 | C3280452 | OMIM | 1 | | 967 | 12799 | 605131 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 276 | 12814 | 611153 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 128 | 12852 | 605356 |
HP:0001265 | HP:0001265 | Hyporeflexia | 0 | ZSWIM6 CL E G H | 57688 | 617865 | NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES | 617865 | CN800196 | OMIM | 1 | | 466 | 29316 | 615951 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ACO2 CL E G H | 50 | 614559 | Infantile cerebellar-retinal degeneration | 614559 | C3281192 | OMIM | 1 | | 507 | 118 | 100850 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ACO2 CL E G H | 50 | 614559 | Infantile cerebellar-retinal degeneration | 614559 | C3281192 | OMIM | 1 | | 507 | 118 | 100850 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ACO2 CL E G H | 50 | 614559 | Infantile cerebellar-retinal degeneration | 614559 | C3281192 | OMIM | 1 | | 507 | 118 | 100850 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ACTA1 CL E G H | 58 | 171436 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ACTA1 CL E G H | 58 | 171436 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ACTA1 CL E G H | 58 | 171436 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ACTA1 CL E G H | 58 | 171439 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ACTA1 CL E G H | 58 | 97244 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ACTA1 CL E G H | 58 | 171439 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ACTA1 CL E G H | 58 | 171439 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ACTA1 CL E G H | 58 | 97244 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ACTA1 CL E G H | 58 | 97244 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 457 | 473 | 238310 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 457 | 473 | 238310 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 457 | 473 | 238310 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 437 | 567 | 602166 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 437 | 567 | 602166 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 437 | 567 | 602166 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 953 | 713 | 607574 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 71 | 29561 | 611647 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 71 | 29561 | 611647 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 71 | 29561 | 611647 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 113 | 3033 | 607462 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ATP1A1 CL E G H | 476 | 618036 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | 618036 | CN248781 | OMIM | 1 | | 272 | 799 | 182310 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ATP1A1 CL E G H | 476 | 618036 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | 618036 | CN248781 | OMIM | 1 | | 272 | 799 | 182310 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ATP1A1 CL E G H | 476 | 618036 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | 618036 | CN248781 | OMIM | 1 | | 272 | 799 | 182310 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 53 | 10555 | 601517 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 53 | 10555 | 601517 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 53 | 10555 | 601517 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 166 | 15685 | 605517 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 166 | 15685 | 605517 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 166 | 15685 | 605517 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 35 | 24160 | 612051 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 35 | 24160 | 612051 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 35 | 24160 | 612051 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | BICD2 CL E G H | 23299 | 615290 | Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant | 615290 | C3809049 | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | BICD2 CL E G H | 23299 | 615290 | Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant | 615290 | C3809049 | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | BICD2 CL E G H | 23299 | 615290 | Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant | 615290 | C3809049 | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | BSND CL E G H | 7809 | 602522 | Bartter syndrome type 4 | 602522 | C1865270 | OMIM | 1 | | 249 | 16512 | 606412 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | BSND CL E G H | 7809 | 602522 | Bartter syndrome type 4 | 602522 | C1865270 | OMIM | 1 | | 249 | 16512 | 606412 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | BSND CL E G H | 7809 | 602522 | Bartter syndrome type 4 | 602522 | C1865270 | OMIM | 1 | | 249 | 16512 | 606412 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CACNA1S CL E G H | 779 | 79102 | | | | ORPHA | 1 | | 1504 | 1397 | 114208 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CACNA1S CL E G H | 779 | 79102 | | | | ORPHA | 1 | | 1504 | 1397 | 114208 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CACNA1S CL E G H | 779 | 79102 | | | | ORPHA | 1 | | 1504 | 1397 | 114208 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CFL2 CL E G H | 1073 | 171436 | | | | ORPHA | 1 | | 147 | 1875 | 601443 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CFL2 CL E G H | 1073 | 171436 | | | | ORPHA | 1 | | 147 | 1875 | 601443 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CFL2 CL E G H | 1073 | 171436 | | | | ORPHA | 1 | | 147 | 1875 | 601443 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CLCNKA CL E G H | 1187 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 184 | 2026 | 602024 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CLCNKA CL E G H | 1187 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 184 | 2026 | 602024 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CLCNKA CL E G H | 1187 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 184 | 2026 | 602024 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CLCNKB CL E G H | 1188 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CLCNKB CL E G H | 1188 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CLCNKB CL E G H | 1188 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 390 | 2092 | 118955 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 390 | 2092 | 118955 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 390 | 2092 | 118955 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 264 | 19701 | 300724 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 264 | 19701 | 300724 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 264 | 19701 | 300724 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1258 | 2202 | 120130 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1258 | 2202 | 120130 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1258 | 2202 | 120130 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | COX6A1 CL E G H | 1337 | 616039 | Charcot-Marie-Tooth disease, recessive intermediate d | 616039 | C4015029 | OMIM | 1 | | 74 | 2277 | 602072 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | COX6A1 CL E G H | 1337 | 616039 | Charcot-Marie-Tooth disease, recessive intermediate d | 616039 | C4015029 | OMIM | 1 | | 74 | 2277 | 602072 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | COX6A1 CL E G H | 1337 | 616039 | Charcot-Marie-Tooth disease, recessive intermediate d | 616039 | C4015029 | OMIM | 1 | | 74 | 2277 | 602072 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 230 | 2389 | 123590 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 230 | 2389 | 123590 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 230 | 2389 | 123590 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 416 | 13760 | 606323 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 416 | 13760 | 606323 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 416 | 13760 | 606323 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 496 | 2666 | 128239 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 496 | 2666 | 128239 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 496 | 2666 | 128239 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 1 | | 294 | 25538 | 610956 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 1 | | 294 | 25538 | 610956 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 1 | | 294 | 25538 | 610956 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 318 | 20603 | 608172 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 318 | 20603 | 608172 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 318 | 20603 | 608172 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DMD CL E G H | 1756 | 300376 | Becker muscular dystrophy | 300376 | C0917713 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DMD CL E G H | 1756 | 300376 | Becker muscular dystrophy | 300376 | C0917713 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DMD CL E G H | 1756 | 300376 | Becker muscular dystrophy | 300376 | C0917713 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DMD CL E G H | 1756 | 310200 | Duchenne muscular dystrophy | 310200 | C0013264 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DMD CL E G H | 1756 | 310200 | Duchenne muscular dystrophy | 310200 | C0013264 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DMD CL E G H | 1756 | 310200 | Duchenne muscular dystrophy | 310200 | C0013264 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 622 | 2972 | 602377 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 622 | 2972 | 602377 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 622 | 2972 | 602377 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | DYNC1H1 CL E G H | 1778 | 614563 | Mental retardation, autosomal dominant 13 | 614563 | C3281202 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | DYNC1H1 CL E G H | 1778 | 614563 | Mental retardation, autosomal dominant 13 | 614563 | C3281202 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | DYNC1H1 CL E G H | 1778 | 614563 | Mental retardation, autosomal dominant 13 | 614563 | C3281202 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 493 | 3192 | 602959 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 493 | 3192 | 602959 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 493 | 3192 | 602959 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ELOVL4 CL E G H | 6785 | 1955 | | | | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ELOVL4 CL E G H | 6785 | 1955 | | | | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ELOVL4 CL E G H | 6785 | 1955 | | | | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 242 | 14415 | 605512 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 242 | 14415 | 605512 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 242 | 14415 | 605512 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1458 | 5959 | 603722 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1458 | 5959 | 603722 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1458 | 5959 | 603722 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ELP1 CL E G H | 8518 | 223900 | Familial dysautonomia | 223900 | C0013364 | OMIM | 1 | | 1458 | 5959 | 603722 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ELP1 CL E G H | 8518 | 223900 | Familial dysautonomia | 223900 | C0013364 | OMIM | 1 | | 1458 | 5959 | 603722 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ELP1 CL E G H | 8518 | 223900 | Familial dysautonomia | 223900 | C0013364 | OMIM | 1 | | 1458 | 5959 | 603722 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1196 | 3434 | 126340 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FDX2 CL E G H | 112812 | 251900 | Mitochondrial myopathy | 251900 | C0162670 | OMIM | 1 | | 73 | 30546 | 614585 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FDX2 CL E G H | 112812 | 251900 | Mitochondrial myopathy | 251900 | C0162670 | OMIM | 1 | | 73 | 30546 | 614585 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FDX2 CL E G H | 112812 | 251900 | Mitochondrial myopathy | 251900 | C0162670 | OMIM | 1 | | 73 | 30546 | 614585 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FGD4 CL E G H | 121512 | 609311 | Charcot-Marie-Tooth disease, type 4H | 609311 | C1836336 | OMIM | 1 | | 659 | 19125 | 611104 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FGD4 CL E G H | 121512 | 609311 | Charcot-Marie-Tooth disease, type 4H | 609311 | C1836336 | OMIM | 1 | | 659 | 19125 | 611104 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FGD4 CL E G H | 121512 | 609311 | Charcot-Marie-Tooth disease, type 4H | 609311 | C1836336 | OMIM | 1 | | 659 | 19125 | 611104 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 210 | 3668 | 601513 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 210 | 3668 | 601513 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 210 | 3668 | 601513 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FHL1 CL E G H | 2273 | 300718 | Myopathy, reducing body, X-linked, childhood-onset | 300718 | C2678015 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FHL1 CL E G H | 2273 | 300718 | Myopathy, reducing body, X-linked, childhood-onset | 300718 | C2678015 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FHL1 CL E G H | 2273 | 300718 | Myopathy, reducing body, X-linked, childhood-onset | 300718 | C2678015 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FHL1 CL E G H | 2273 | 300717 | Myopathy, reducing body, X-linked, early-onset, severe | 300717 | C2678027 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FHL1 CL E G H | 2273 | 300717 | Myopathy, reducing body, X-linked, early-onset, severe | 300717 | C2678027 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FHL1 CL E G H | 2273 | 300717 | Myopathy, reducing body, X-linked, early-onset, severe | 300717 | C2678027 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FHL1 CL E G H | 2273 | 300695 | Scapuloperoneal myopathy, X-linked dominant | 300695 | C2678061 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FHL1 CL E G H | 2273 | 300695 | Scapuloperoneal myopathy, X-linked dominant | 300695 | C2678061 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FHL1 CL E G H | 2273 | 300695 | Scapuloperoneal myopathy, X-linked dominant | 300695 | C2678061 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FKRP CL E G H | 79147 | 613153 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 613153 | C3150413 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FKRP CL E G H | 79147 | 613153 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 613153 | C3150413 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FKRP CL E G H | 79147 | 613153 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 613153 | C3150413 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FLNC CL E G H | 2318 | 614065 | Myopathy, distal, 4 | 614065 | C3279722 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FLNC CL E G H | 2318 | 614065 | Myopathy, distal, 4 | 614065 | C3279722 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FLNC CL E G H | 2318 | 614065 | Myopathy, distal, 4 | 614065 | C3279722 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 409 | 4010 | 137070 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 409 | 4010 | 137070 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 409 | 4010 | 137070 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | GABRA3 CL E G H | 2556 | 79102 | | | | ORPHA | 1 | | 212 | 4077 | 305660 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | GABRA3 CL E G H | 2556 | 79102 | | | | ORPHA | 1 | | 212 | 4077 | 305660 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | GABRA3 CL E G H | 2556 | 79102 | | | | ORPHA | 1 | | 212 | 4077 | 305660 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 421 | 4082 | 600232 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 421 | 4082 | 600232 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 421 | 4082 | 600232 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 162 | 4208 | 238330 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 162 | 4208 | 238330 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 162 | 4208 | 238330 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 1816 | 4313 | 238300 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 1816 | 4313 | 238300 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 1816 | 4313 | 238300 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | GNB4 CL E G H | 59345 | 615185 | Charcot-Marie-Tooth disease, dominant intermediate F | 615185 | C3554654 | OMIM | 1 | | 221 | 20731 | 610863 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | GNB4 CL E G H | 59345 | 615185 | Charcot-Marie-Tooth disease, dominant intermediate F | 615185 | C3554654 | OMIM | 1 | | 221 | 20731 | 610863 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | GNB4 CL E G H | 59345 | 615185 | Charcot-Marie-Tooth disease, dominant intermediate F | 615185 | C3554654 | OMIM | 1 | | 221 | 20731 | 610863 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 519 | 4588 | 602717 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 519 | 4588 | 602717 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 519 | 4588 | 602717 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 635 | 4845 | 602780 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 635 | 4845 | 602780 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 635 | 4845 | 602780 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 391 | 4922 | 142600 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 391 | 4922 | 142600 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 391 | 4922 | 142600 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | HNRNPDL CL E G H | 9987 | 609115 | Limb-girdle muscular dystrophy, type 1G | 609115 | C1836765 | OMIM | 1 | | 248 | 5037 | 607137 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | HNRNPDL CL E G H | 9987 | 609115 | Limb-girdle muscular dystrophy, type 1G | 609115 | C1836765 | OMIM | 1 | | 248 | 5037 | 607137 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | HNRNPDL CL E G H | 9987 | 609115 | Limb-girdle muscular dystrophy, type 1G | 609115 | C1836765 | OMIM | 1 | | 248 | 5037 | 607137 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | IARS2 CL E G H | 55699 | 616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 616007 | C4014942 | OMIM | 1 | | 289 | 29685 | 612801 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | IARS2 CL E G H | 55699 | 616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 616007 | C4014942 | OMIM | 1 | | 289 | 29685 | 612801 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | IARS2 CL E G H | 55699 | 616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 616007 | C4014942 | OMIM | 1 | | 289 | 29685 | 612801 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | IGHMBP2 CL E G H | 3508 | 616155 | Charcot-Marie-Tooth disease, axonal, type 2S | 616155 | C4015349 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | IGHMBP2 CL E G H | 3508 | 616155 | Charcot-Marie-Tooth disease, axonal, type 2S | 616155 | C4015349 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | IGHMBP2 CL E G H | 3508 | 616155 | Charcot-Marie-Tooth disease, axonal, type 2S | 616155 | C4015349 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1150 | 23791 | 610982 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1150 | 23791 | 610982 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1150 | 23791 | 610982 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 647 | 37276 | 614631 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 647 | 37276 | 614631 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 647 | 37276 | 614631 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KARS CL E G H | 3735 | 613641 | Charcot-Marie-Tooth disease, recessive intermediate B | 613641 | C3150897 | OMIM | 1 | | | 6215 | 601421 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KARS CL E G H | 3735 | 613641 | Charcot-Marie-Tooth disease, recessive intermediate B | 613641 | C3150897 | OMIM | 1 | | | 6215 | 601421 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KARS CL E G H | 3735 | 613641 | Charcot-Marie-Tooth disease, recessive intermediate B | 613641 | C3150897 | OMIM | 1 | | | 6215 | 601421 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KBTBD13 CL E G H | 390594 | 171439 | | | | ORPHA | 1 | | 431 | 37227 | 613727 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KBTBD13 CL E G H | 390594 | 171439 | | | | ORPHA | 1 | | 431 | 37227 | 613727 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KBTBD13 CL E G H | 390594 | 171439 | | | | ORPHA | 1 | | 431 | 37227 | 613727 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 325 | 6220 | 176262 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 325 | 6220 | 176262 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 325 | 6220 | 176262 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 518 | 6231 | 600397 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 518 | 6231 | 600397 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 518 | 6231 | 600397 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 1 | | 399 | 6239 | 605411 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 1 | | 399 | 6239 | 605411 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 1 | | 399 | 6239 | 605411 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 399 | 6239 | 605411 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 399 | 6239 | 605411 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 399 | 6239 | 605411 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KCNJ18 CL E G H | 100134444 | 79102 | | | | ORPHA | 1 | | 11 | 39080 | 613236 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KCNJ18 CL E G H | 100134444 | 79102 | | | | ORPHA | 1 | | 11 | 39080 | 613236 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KCNJ18 CL E G H | 100134444 | 79102 | | | | ORPHA | 1 | | 11 | 39080 | 613236 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KIAA0586 CL E G H | 9786 | 616546 | Short-rib thoracic dysplasia 14 with polydactyly | 616546 | C4225286 | OMIM | 1 | | 828 | 19960 | 610178 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KIAA0586 CL E G H | 9786 | 616546 | Short-rib thoracic dysplasia 14 with polydactyly | 616546 | C4225286 | OMIM | 1 | | 828 | 19960 | 610178 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KIAA0586 CL E G H | 9786 | 616546 | Short-rib thoracic dysplasia 14 with polydactyly | 616546 | C4225286 | OMIM | 1 | | 828 | 19960 | 610178 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KIF1A CL E G H | 547 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KIF1A CL E G H | 547 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KIF1A CL E G H | 547 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KIF1A CL E G H | 547 | 614213 | Hereditary sensory and autonomic neuropathy type IIC | 614213 | C3280168 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KIF1A CL E G H | 547 | 614213 | Hereditary sensory and autonomic neuropathy type IIC | 614213 | C3280168 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KIF1A CL E G H | 547 | 614213 | Hereditary sensory and autonomic neuropathy type IIC | 614213 | C3280168 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0001265 | HP:0012391 | Hyporeflexia of upper limbs | 1 | KLHL41 CL E G H | 10324 | 171433 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0001265 | HP:0002600 | Hyporeflexia of lower limbs | 1 | KLHL41 CL E G H | 10324 | 171439 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KLHL41 CL E G H | 10324 | 171433 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0001265 | HP:0012392 | Jaw hyporeflexia | 1 | KLHL41 CL E G |