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:0001284 | HP:0001284 | Areflexia | 0 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0001284 | HP:0001284 | Areflexia | 0 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 194 | 21396 | 604780 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 49 | 16066 | 617036 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ACO2 CL E G H | 50 | 614559 | Infantile cerebellar-retinal degeneration | 614559 | C3281192 | OMIM | 1 | | 507 | 118 | 100850 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ADCY6 CL E G H | 112 | 616287 | Lethal congenital contracture syndrome 8 | 616287 | C4225385 | OMIM | 1 | | 72 | 237 | 600294 |
HP:0001284 | HP:0001284 | Areflexia | 0 | AIFM1 CL E G H | 9131 | 238329 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0001284 | Areflexia | 0 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0001284 | Areflexia | 0 | AIFM1 CL E G H | 9131 | 300614 | Deafness, X-linked 5 | 300614 | C1845095 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 495 | 18294 | 605907 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 1 | | 104 | 28287 | 612866 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 1 | | 262 | 23159 | 607905 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ALG6 CL E G H | 29929 | 603147 | Congenital disorder of glycosylation type 1C | 603147 | C2930997 | OMIM | 1 | | 505 | 23157 | 604566 |
HP:0001284 | HP:0001284 | Areflexia | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ARSI CL E G H | 340075 | 401815 | | | | ORPHA | 1 | | 97 | 32521 | 610009 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ATP1A1 CL E G H | 476 | 618036 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | 618036 | CN248781 | OMIM | 1 | | 272 | 799 | 182310 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 790 | 801 | 182350 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0001284 | HP:0001284 | Areflexia | 0 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001284 | HP:0001284 | Areflexia | 0 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 166 | 15685 | 605517 |
HP:0001284 | HP:0001284 | Areflexia | 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:0001284 | HP:0001284 | Areflexia | 0 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0001284 | HP:0001284 | Areflexia | 0 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0001284 | HP:0001284 | Areflexia | 0 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 697 | 25695 | 612800 |
HP:0001284 | HP:0001284 | Areflexia | 0 | CD59 CL E G H | 966 | 612300 | CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | 612300 | C2676767 | OMIM | 1 | | 64 | 1689 | 107271 |
HP:0001284 | HP:0001284 | Areflexia | 0 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001284 | HP:0001284 | Areflexia | 0 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 147 | 1875 | 601443 |
HP:0001284 | HP:0001284 | Areflexia | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001284 | HP:0001284 | Areflexia | 0 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001284 | HP:0001284 | Areflexia | 0 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0001284 | HP:0001284 | Areflexia | 0 | CNTN1 CL E G H | 1272 | 612540 | Myopathy, congenital, compton-north | 612540 | C2675527 | OMIM | 1 | | 476 | 2171 | 600016 |
HP:0001284 | HP:0001284 | Areflexia | 0 | CNTNAP1 CL E G H | 8506 | 616286 | Lethal congenital contracture syndrome 7 | 616286 | C4225386 | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0001284 | HP:0001284 | Areflexia | 0 | COL12A1 CL E G H | 1303 | 616470 | Ullrich congenital muscular dystrophy 2 | 616470 | C4225314 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0001284 | HP:0001284 | Areflexia | 0 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1258 | 2202 | 120130 |
HP:0001284 | HP:0001284 | Areflexia | 0 | COX6A1 CL E G H | 1337 | 616039 | Charcot-Marie-Tooth disease, recessive intermediate d | 616039 | C4015029 | OMIM | 1 | | 74 | 2277 | 602072 |
HP:0001284 | HP:0001284 | Areflexia | 0 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 496 | 2666 | 128239 |
HP:0001284 | HP:0001284 | Areflexia | 0 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0001284 | HP:0001284 | Areflexia | 0 | DNAJB2 CL E G H | 3300 | 614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | C3553989 | OMIM | 1 | | 253 | 5228 | 604139 |
HP:0001284 | HP:0001284 | Areflexia | 0 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 105 | 9439 | 601184 |
HP:0001284 | HP:0001284 | Areflexia | 0 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0001284 | HP:0001284 | Areflexia | 0 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001284 | HP:0001284 | Areflexia | 0 | DNM2 CL E G H | 1785 | 615368 | Lethal congenital contracture syndrome 5 | 615368 | C3809272 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001284 | HP:0001284 | Areflexia | 0 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001284 | HP:0001284 | Areflexia | 0 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 1 | | 258 | 2995 | 191350 |
HP:0001284 | HP:0001284 | Areflexia | 0 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 2927 | 1090 | 113810 |
HP:0001284 | HP:0001284 | Areflexia | 0 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001284 | HP:0001284 | Areflexia | 0 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001284 | HP:0001284 | Areflexia | 0 | FGD4 CL E G H | 121512 | 609311 | Charcot-Marie-Tooth disease, type 4H | 609311 | C1836336 | OMIM | 1 | | 659 | 19125 | 611104 |
HP:0001284 | HP:0001284 | Areflexia | 0 | FHL1 CL E G H | 2273 | 300717 | Myopathy, reducing body, X-linked, early-onset, severe | 300717 | C2678027 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001284 | HP:0001284 | Areflexia | 0 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0001284 | HP:0001284 | Areflexia | 0 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001284 | HP:0001284 | Areflexia | 0 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 448 | 24682 | 609144 |
HP:0001284 | HP:0001284 | Areflexia | 0 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2068 | 4065 | 606800 |
HP:0001284 | HP:0001284 | Areflexia | 0 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0001284 | HP:0001284 | Areflexia | 0 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0001284 | Areflexia | 0 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0001284 | Areflexia | 0 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0001284 | Areflexia | 0 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0001284 | Areflexia | 0 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 1 | | 453 | 4241 | 138292 |
HP:0001284 | HP:0001284 | Areflexia | 0 | GJB1 CL E G H | 2705 | 101075 | | | | ORPHA | 1 | | 797 | 4283 | 304040 |
HP:0001284 | HP:0001284 | Areflexia | 0 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001284 | HP:0001284 | Areflexia | 0 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 272 | 4431 | 604027 |
HP:0001284 | HP:0001284 | Areflexia | 0 | HADHA CL E G H | 3030 | 746 | Apert like polydactyly syndrome | | | ORPHA | 1 | | 630 | 4801 | 600890 |
HP:0001284 | HP:0001284 | Areflexia | 0 | HADHB CL E G H | 3032 | 746 | Apert like polydactyly syndrome | | | ORPHA | 1 | | 263 | 4803 | 143450 |
HP:0001284 | HP:0001284 | Areflexia | 0 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0001284 | HP:0001284 | Areflexia | 0 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0001284 | HP:0001284 | Areflexia | 0 | IBA57 CL E G H | 200205 | 616451 | Spastic paraplegia 74, autosomal recessive | 616451 | C4225322 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0001284 | HP:0001284 | Areflexia | 0 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 52 | 5456 | 603502 |
HP:0001284 | HP:0001284 | Areflexia | 0 | IGHMBP2 CL E G H | 3508 | 616155 | Charcot-Marie-Tooth disease, axonal, type 2S | 616155 | C4015349 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001284 | HP:0001284 | Areflexia | 0 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1150 | 23791 | 610982 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 647 | 37276 | 614631 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 647 | 37276 | 614631 |
HP:0001284 | HP:0001284 | Areflexia | 0 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 1308 | 6188 | 601920 |
HP:0001284 | HP:0001284 | Areflexia | 0 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 41 | 14201 | 605266 |
HP:0001284 | HP:0001284 | Areflexia | 0 | KARS CL E G H | 3735 | 613641 | Charcot-Marie-Tooth disease, recessive intermediate B | 613641 | C3150897 | OMIM | 1 | | | 6215 | 601421 |
HP:0001284 | HP:0001284 | Areflexia | 0 | KIF1A CL E G H | 547 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001284 | HP:0001284 | Areflexia | 0 | KIF1A CL E G H | 547 | 614213 | Hereditary sensory and autonomic neuropathy type IIC | 614213 | C3280168 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001284 | HP:0001284 | Areflexia | 0 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0001284 | HP:0001284 | Areflexia | 0 | LAMA2 CL E G H | 3908 | 607855 | Merosin deficient congenital muscular dystrophy | 607855 | C1263858 | OMIM | 1 | | 3283 | 6482 | 156225 |
HP:0001284 | HP:0001284 | Areflexia | 0 | LAMA2 CL E G H | 3908 | 618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | 618138 | | OMIM | 1 | | 3283 | 6482 | 156225 |
HP:0001284 | HP:0001284 | Areflexia | 0 | LAMB2 CL E G H | 3913 | 609049 | Pierson syndrome | 609049 | C1836876 | OMIM | 1 | | 677 | 6487 | 150325 |
HP:0001284 | HP:0001284 | Areflexia | 0 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001284 | HP:0001284 | Areflexia | 0 | LARGE1 CL E G H | 9215 | 613154 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 613154 | C3150414 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0001284 | HP:0001284 | Areflexia | 0 | LGI4 CL E G H | 163175 | 617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 617468 | C4479539 | OMIM | 1 | | 79 | 18712 | 608303 |
HP:0001284 | HP:0001284 | Areflexia | 0 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001284 | HP:0001284 | Areflexia | 0 | LPIN1 CL E G H | 23175 | 268200 | Myoglobinuria, acute recurrent, autosomal recessive | 268200 | C1849386 | OMIM | 1 | | 401 | 13345 | 605518 |
HP:0001284 | HP:0001284 | Areflexia | 0 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0001284 | HP:0001284 | Areflexia | 0 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 1754 | 1968 | 606897 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MARS CL E G H | 4141 | 616280 | Charcot-Marie-Tooth disease, axonal, type 2u | 616280 | C4084821 | OMIM | 1 | | | 6898 | 156560 |
HP:0001284 | HP:0001284 | Areflexia | 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:0001284 | HP:0001284 | Areflexia | 0 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MME CL E G H | 4311 | 617017 | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | C4015635 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 585 | 23573 | 616661 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 200 | 7224 | 137960 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MTM1 CL E G H | 4534 | 596 | Albright like syndrome | | | ORPHA | 1 | | 720 | 7448 | 300415 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0001284 | HP:0001284 | Areflexia | 0 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0001284 | HP:0001284 | Areflexia | 0 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 642 | 7679 | 605262 |
HP:0001284 | HP:0001284 | Areflexia | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0001284 | HP:0001284 | Areflexia | 0 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0001284 | Areflexia | 0 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0001284 | Areflexia | 0 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0001284 | Areflexia | 0 | OCRL CL E G H | 4952 | 534 | Acute myeloblastic leukemia without maturation | | | ORPHA | 1 | | 508 | 8108 | 300535 |
HP:0001284 | HP:0001284 | Areflexia | 0 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PDSS1 CL E G H | 23590 | 614651 | Coenzyme Q10 deficiency, primary, 2 | 614651 | C3553354 | OMIM | 1 | | 196 | 17759 | 607429 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PEX1 CL E G H | 5189 | 214100 | Zellweger syndrome | 214100 | C0043459 | OMIM | 1 | | 1205 | 8850 | 602136 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PEX11B CL E G H | 8799 | 614920 | Peroxisome biogenesis disorder 14B | 614920 | C3554055 | OMIM | 1 | | 350 | 8853 | 603867 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PEX12 CL E G H | 5193 | 614859 | Peroxisome biogenesis disorder 3A | 614859 | C3553929 | OMIM | 1 | | 360 | 8854 | 601758 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PEX2 CL E G H | 5828 | 614866 | Peroxisome biogenesis disorder 5a (zellweger) | 614866 | C3553940 | OMIM | 1 | | 366 | 9717 | 170993 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PEX3 CL E G H | 8504 | 614882 | Peroxisome biogenesis disorder 10A | 614882 | C3553999 | OMIM | 1 | | 271 | 8858 | 603164 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PIK3R5 CL E G H | 23533 | 64753 | | | | ORPHA | 1 | | 48 | 30035 | 611317 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PIK3R5 CL E G H | 23533 | 615217 | Ataxia-oculomotor apraxia 3 | 615217 | C3554690 | OMIM | 1 | | 48 | 30035 | 611317 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PNKP CL E G H | 11284 | 616267 | Ataxia-oculomotor apraxia 4 | 616267 | C4225397 | OMIM | 1 | | 875 | 9154 | 605610 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0001284 | HP:0001284 | Areflexia | 0 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0001284 | Areflexia | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0001284 | Areflexia | 0 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0001284 | Areflexia | 0 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0001284 | Areflexia | 0 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0001284 | Areflexia | 0 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001284 | HP:0001284 | Areflexia | 0 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 346 | 25902 | 614828 |
HP:0001284 | HP:0001284 | Areflexia | 0 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 244 | 26267 | 615247 |
HP:0001284 | HP:0001284 | Areflexia | 0 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001284 | HP:0001284 | Areflexia | 0 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001284 | HP:0001284 | Areflexia | 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:0001284 | HP:0001284 | Areflexia | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PRPS1 CL E G H | 5631 | 1187 | Cerebellar agenesis | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PRX CL E G H | 57716 | 614895 | Charcot-Marie-Tooth disease, demyelinating, type 4f | 614895 | C3540453 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001284 | HP:0001284 | Areflexia | 0 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0001284 | HP:0001284 | Areflexia | 0 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0001284 | HP:0001284 | Areflexia | 0 | RAI1 CL E G H | 10743 | 182290 | Smith-Magenis syndrome | 182290 | C0795864 | OMIM | 1 | | 1149 | 9834 | 607642 |
HP:0001284 | HP:0001284 | Areflexia | 0 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0001284 | HP:0001284 | Areflexia | 0 | RETREG1 CL E G H | 54463 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0001284 | HP:0001284 | Areflexia | 0 | RETREG1 CL E G H | 54463 | 613115 | Hereditary sensory and autonomic neuropathy type IIB | 613115 | C2751092 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0001284 | HP:0001284 | Areflexia | 0 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 193 | 21176 | 614917 |
HP:0001284 | HP:0001284 | Areflexia | 0 | RNF170 CL E G H | 81790 | 608984 | Ataxia, sensory, autosomal dominant | 608984 | C1837015 | OMIM | 1 | | 68 | 25358 | 614649 |
HP:0001284 | HP:0001284 | Areflexia | 0 | RXYLT1 CL E G H | 10329 | 899 | | | | ORPHA | 1 | | 213 | 13530 | 605862 |
HP:0001284 | HP:0001284 | Areflexia | 0 | RYR1 CL E G H | 6261 | 424107 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0001284 | HP:0001284 | Areflexia | 0 | RYR1 CL E G H | 6261 | 255320 | Minicore myopathy | 255320 | C1850674 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SBF1 CL E G H | 6305 | 615284 | Charcot-Marie-Tooth disease, type 4B3 | 615284 | C3695063 | OMIM | 1 | | 1157 | 10542 | 603560 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1226 | 2135 | 607697 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SCN9A CL E G H | 6335 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SCO2 CL E G H | 9997 | 521411 | | | | ORPHA | 1 | | 514 | 10604 | 604272 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SETX CL E G H | 23064 | 64753 | | | | ORPHA | 1 | | 1290 | 445 | 608465 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SLC12A6 CL E G H | 9990 | 218000 | Andermann syndrome | 218000 | C0795950 | OMIM | 1 | | 911 | 10914 | 604878 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SLC52A2 CL E G H | 79581 | 614707 | Brown-Vialetto-Van Laere syndrome 2 | 614707 | C3553538 | OMIM | 1 | | 458 | 30224 | 607882 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SMN1 CL E G H | 6606 | 253300 | Werdnig-Hoffmann disease | 253300 | C0043116 | OMIM | 1 | | 208 | 11117 | 600354 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SNAP25 CL E G H | 6616 | 616330 | Myasthenic syndrome, congenital, 18 | 616330 | C4225364 | OMIM | 1 | | 191 | 11132 | 600322 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SNAP29 CL E G H | 9342 | 66631 | | | | ORPHA | 1 | | 599 | 11133 | 604202 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SNAP29 CL E G H | 9342 | 609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | 609528 | C1836033 | OMIM | 1 | | 599 | 11133 | 604202 |
HP:0001284 | HP:0001284 | Areflexia | 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:0001284 | HP:0001284 | Areflexia | 0 | SPEG CL E G H | 10290 | 615959 | Myopathy, centronuclear, 5 | 615959 | C4014814 | OMIM | 1 | | 907 | 16901 | 615950 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SPG11 CL E G H | 80208 | 616668 | Charcot-Marie-Tooth disease, axonal type 2X | 616668 | C4225253 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 331 | 11277 | 605712 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SURF1 CL E G H | 6834 | 616684 | Charcot-Marie-Tooth disease, type 4k | 616684 | C4225246 | OMIM | 1 | | 355 | 11474 | 185620 |
HP:0001284 | HP:0001284 | Areflexia | 0 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 160 | 11510 | 600104 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TDP1 CL E G H | 55775 | 94124 | | | | ORPHA | 1 | | 208 | 18884 | 607198 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TECPR2 CL E G H | 9895 | 320385 | | | | ORPHA | 1 | | 894 | 19957 | 615000 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TECPR2 CL E G H | 9895 | 615031 | Spastic paraplegia 49, autosomal recessive | 615031 | C3542549 | OMIM | 1 | | 894 | 19957 | 615000 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 307 | 11758 | 602498 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TRIM2 CL E G H | 23321 | 615490 | Charcot-Marie-Tooth disease, axonal, type 2R | 615490 | C3809655 | OMIM | 1 | | 334 | 15974 | 614141 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TRIM32 CL E G H | 22954 | 254110 | Sarcotubular myopathy | 254110 | C0270968 | OMIM | 1 | | 516 | 16380 | 602290 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TRPV4 CL E G H | 59341 | 181405 | Scapuloperoneal spinal muscular atrophy | 181405 | C0751335 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 1 | | 309 | 12404 | 600415 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TTPA CL E G H | 7274 | 277460 | Ataxia with vitamin E deficiency | 277460 | C1848533 | OMIM | 1 | | 309 | 12404 | 600415 |
HP:0001284 | HP:0001284 | Areflexia | 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:0001284 | HP:0001284 | Areflexia | 0 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0001284 | HP:0001284 | Areflexia | 0 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 803 | 3148 | 131222 |
HP:0001284 | HP:0001284 | Areflexia | 0 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0001284 | HP:0001284 | Areflexia | 0 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 319 | 12649 | 605704 |
HP:0001284 | HP:0001284 | Areflexia | 0 | VCP CL E G H | 7415 | 616687 | Charcot-Marie-Tooth disease, axonal, type 2y | 616687 | C4225244 | OMIM | 1 | | 473 | 12666 | 601023 |
HP:0001284 | HP:0001284 | Areflexia | 0 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 1735 | 1908 | 605978 |
HP:0001284 | HP:0001284 | Areflexia | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 1735 | 1908 | 605978 |
HP:0001284 | HP:0001284 | Areflexia | 0 | WNK1 CL E G H | 65125 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1448 | 14540 | 605232 |
HP:0001284 | HP:0001284 | Areflexia | 0 | XK CL E G H | 7504 | 300842 | McLeod neuroacanthocytosis syndrome | 300842 | C0398568 | OMIM | 1 | | 188 | 12811 | 314850 |
HP:0001284 | HP:0001284 | Areflexia | 0 | XRCC1 CL E G H | 7515 | 617633 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 | 617633 | C4539948 | OMIM | 1 | | 52 | 12828 | 194360 |
HP:0001284 | HP:0001284 | Areflexia | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 194 | 21396 | 604780 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 194 | 21396 | 604780 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 194 | 21396 | 604780 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 49 | 16066 | 617036 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 49 | 16066 | 617036 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 49 | 16066 | 617036 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ACO2 CL E G H | 50 | 614559 | Infantile cerebellar-retinal degeneration | 614559 | C3281192 | OMIM | 1 | | 507 | 118 | 100850 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ACO2 CL E G H | 50 | 614559 | Infantile cerebellar-retinal degeneration | 614559 | C3281192 | OMIM | 1 | | 507 | 118 | 100850 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ACO2 CL E G H | 50 | 614559 | Infantile cerebellar-retinal degeneration | 614559 | C3281192 | OMIM | 1 | | 507 | 118 | 100850 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ADCY6 CL E G H | 112 | 616287 | Lethal congenital contracture syndrome 8 | 616287 | C4225385 | OMIM | 1 | | 72 | 237 | 600294 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ADCY6 CL E G H | 112 | 616287 | Lethal congenital contracture syndrome 8 | 616287 | C4225385 | OMIM | 1 | | 72 | 237 | 600294 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ADCY6 CL E G H | 112 | 616287 | Lethal congenital contracture syndrome 8 | 616287 | C4225385 | OMIM | 1 | | 72 | 237 | 600294 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | AIFM1 CL E G H | 9131 | 238329 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | AIFM1 CL E G H | 9131 | 238329 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | AIFM1 CL E G H | 9131 | 238329 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | AIFM1 CL E G H | 9131 | 300614 | Deafness, X-linked 5 | 300614 | C1845095 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | AIFM1 CL E G H | 9131 | 300614 | Deafness, X-linked 5 | 300614 | C1845095 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | AIFM1 CL E G H | 9131 | 300614 | Deafness, X-linked 5 | 300614 | C1845095 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 495 | 18294 | 605907 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 495 | 18294 | 605907 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 495 | 18294 | 605907 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 1 | | 104 | 28287 | 612866 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 1 | | 104 | 28287 | 612866 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 1 | | 104 | 28287 | 612866 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 1 | | 262 | 23159 | 607905 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 1 | | 262 | 23159 | 607905 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 1 | | 262 | 23159 | 607905 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ALG6 CL E G H | 29929 | 603147 | Congenital disorder of glycosylation type 1C | 603147 | C2930997 | OMIM | 1 | | 505 | 23157 | 604566 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ALG6 CL E G H | 29929 | 603147 | Congenital disorder of glycosylation type 1C | 603147 | C2930997 | OMIM | 1 | | 505 | 23157 | 604566 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ALG6 CL E G H | 29929 | 603147 | Congenital disorder of glycosylation type 1C | 603147 | C2930997 | OMIM | 1 | | 505 | 23157 | 604566 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ARSI CL E G H | 340075 | 401815 | | | | ORPHA | 1 | | 97 | 32521 | 610009 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ARSI CL E G H | 340075 | 401815 | | | | ORPHA | 1 | | 97 | 32521 | 610009 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ARSI CL E G H | 340075 | 401815 | | | | ORPHA | 1 | | 97 | 32521 | 610009 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | ATP1A1 CL E G H | 476 | 618036 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | 618036 | CN248781 | OMIM | 1 | | 272 | 799 | 182310 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 790 | 801 | 182350 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 790 | 801 | 182350 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 790 | 801 | 182350 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 166 | 15685 | 605517 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 166 | 15685 | 605517 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 166 | 15685 | 605517 |
HP:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 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:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 697 | 25695 | 612800 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 697 | 25695 | 612800 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 697 | 25695 | 612800 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | CD59 CL E G H | 966 | 612300 | CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | 612300 | C2676767 | OMIM | 1 | | 64 | 1689 | 107271 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | CD59 CL E G H | 966 | 612300 | CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | 612300 | C2676767 | OMIM | 1 | | 64 | 1689 | 107271 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | CD59 CL E G H | 966 | 612300 | CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | 612300 | C2676767 | OMIM | 1 | | 64 | 1689 | 107271 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 147 | 1875 | 601443 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 147 | 1875 | 601443 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 147 | 1875 | 601443 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | CNTN1 CL E G H | 1272 | 612540 | Myopathy, congenital, compton-north | 612540 | C2675527 | OMIM | 1 | | 476 | 2171 | 600016 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | CNTN1 CL E G H | 1272 | 612540 | Myopathy, congenital, compton-north | 612540 | C2675527 | OMIM | 1 | | 476 | 2171 | 600016 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | CNTN1 CL E G H | 1272 | 612540 | Myopathy, congenital, compton-north | 612540 | C2675527 | OMIM | 1 | | 476 | 2171 | 600016 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | CNTNAP1 CL E G H | 8506 | 616286 | Lethal congenital contracture syndrome 7 | 616286 | C4225386 | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | CNTNAP1 CL E G H | 8506 | 616286 | Lethal congenital contracture syndrome 7 | 616286 | C4225386 | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | CNTNAP1 CL E G H | 8506 | 616286 | Lethal congenital contracture syndrome 7 | 616286 | C4225386 | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | COL12A1 CL E G H | 1303 | 616470 | Ullrich congenital muscular dystrophy 2 | 616470 | C4225314 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | COL12A1 CL E G H | 1303 | 616470 | Ullrich congenital muscular dystrophy 2 | 616470 | C4225314 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | COL12A1 CL E G H | 1303 | 616470 | Ullrich congenital muscular dystrophy 2 | 616470 | C4225314 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1258 | 2202 | 120130 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1258 | 2202 | 120130 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1258 | 2202 | 120130 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | COX6A1 CL E G H | 1337 | 616039 | Charcot-Marie-Tooth disease, recessive intermediate d | 616039 | C4015029 | OMIM | 1 | | 74 | 2277 | 602072 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 496 | 2666 | 128239 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 496 | 2666 | 128239 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 496 | 2666 | 128239 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | DNAJB2 CL E G H | 3300 | 614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | C3553989 | OMIM | 1 | | 253 | 5228 | 604139 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | DNAJB2 CL E G H | 3300 | 614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | C3553989 | OMIM | 1 | | 253 | 5228 | 604139 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | DNAJB2 CL E G H | 3300 | 614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | C3553989 | OMIM | 1 | | 253 | 5228 | 604139 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 105 | 9439 | 601184 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 105 | 9439 | 601184 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 105 | 9439 | 601184 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | DNM2 CL E G H | 1785 | 615368 | Lethal congenital contracture syndrome 5 | 615368 | C3809272 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | DNM2 CL E G H | 1785 | 615368 | Lethal congenital contracture syndrome 5 | 615368 | C3809272 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | DNM2 CL E G H | 1785 | 615368 | Lethal congenital contracture syndrome 5 | 615368 | C3809272 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 1 | | 258 | 2995 | 191350 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 1 | | 258 | 2995 | 191350 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 1 | | 258 | 2995 | 191350 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 2927 | 1090 | 113810 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 2927 | 1090 | 113810 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 2927 | 1090 | 113810 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | FGD4 CL E G H | 121512 | 609311 | Charcot-Marie-Tooth disease, type 4H | 609311 | C1836336 | OMIM | 1 | | 659 | 19125 | 611104 |
HP:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | FHL1 CL E G H | 2273 | 300717 | Myopathy, reducing body, X-linked, early-onset, severe | 300717 | C2678027 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 448 | 24682 | 609144 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 448 | 24682 | 609144 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 448 | 24682 | 609144 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2068 | 4065 | 606800 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2068 | 4065 | 606800 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2068 | 4065 | 606800 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 1 | | 453 | 4241 | 138292 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 1 | | 453 | 4241 | 138292 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 1 | | 453 | 4241 | 138292 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | GJB1 CL E G H | 2705 | 101075 | | | | ORPHA | 1 | | 797 | 4283 | 304040 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | GJB1 CL E G H | 2705 | 101075 | | | | ORPHA | 1 | | 797 | 4283 | 304040 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | GJB1 CL E G H | 2705 | 101075 | | | | ORPHA | 1 | | 797 | 4283 | 304040 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 272 | 4431 | 604027 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 272 | 4431 | 604027 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 272 | 4431 | 604027 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | HADHA CL E G H | 3030 | 746 | Apert like polydactyly syndrome | | | ORPHA | 1 | | 630 | 4801 | 600890 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | HADHA CL E G H | 3030 | 746 | Apert like polydactyly syndrome | | | ORPHA | 1 | | 630 | 4801 | 600890 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | HADHA CL E G H | 3030 | 746 | Apert like polydactyly syndrome | | | ORPHA | 1 | | 630 | 4801 | 600890 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | HADHB CL E G H | 3032 | 746 | Apert like polydactyly syndrome | | | ORPHA | 1 | | 263 | 4803 | 143450 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | HADHB CL E G H | 3032 | 746 | Apert like polydactyly syndrome | | | ORPHA | 1 | | 263 | 4803 | 143450 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | HADHB CL E G H | 3032 | 746 | Apert like polydactyly syndrome | | | ORPHA | 1 | | 263 | 4803 | 143450 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | IBA57 CL E G H | 200205 | 616451 | Spastic paraplegia 74, autosomal recessive | 616451 | C4225322 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | IBA57 CL E G H | 200205 | 616451 | Spastic paraplegia 74, autosomal recessive | 616451 | C4225322 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | IBA57 CL E G H | 200205 | 616451 | Spastic paraplegia 74, autosomal recessive | 616451 | C4225322 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 52 | 5456 | 603502 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 52 | 5456 | 603502 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 52 | 5456 | 603502 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | IGHMBP2 CL E G H | 3508 | 616155 | Charcot-Marie-Tooth disease, axonal, type 2S | 616155 | C4015349 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1150 | 23791 | 610982 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 647 | 37276 | 614631 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 647 | 37276 | 614631 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 647 | 37276 | 614631 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 647 | 37276 | 614631 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 647 | 37276 | 614631 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 647 | 37276 | 614631 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 1308 | 6188 | 601920 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 1308 | 6188 | 601920 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 1308 | 6188 | 601920 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 41 | 14201 | 605266 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 41 | 14201 | 605266 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 41 | 14201 | 605266 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | KARS CL E G H | 3735 | 613641 | Charcot-Marie-Tooth disease, recessive intermediate B | 613641 | C3150897 | OMIM | 1 | | | 6215 | 601421 |
HP:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | KIF1A CL E G H | 547 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0031004 | Hemiareflexia | 1 | KIF1A CL E G H | 547 | 614213 | Hereditary sensory and autonomic neuropathy type IIC | 614213 | C3280168 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0001284 | HP:0002522 | Areflexia 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:0001284 | HP:0012046 | Areflexia 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:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | LAMA2 CL E G H | 3908 | 607855 | Merosin deficient congenital muscular dystrophy | 607855 | C1263858 | OMIM | 1 | | 3283 | 6482 | 156225 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | LAMA2 CL E G H | 3908 | 607855 | Merosin deficient congenital muscular dystrophy | 607855 | C1263858 | OMIM | 1 | | 3283 | 6482 | 156225 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | LAMA2 CL E G H | 3908 | 607855 | Merosin deficient congenital muscular dystrophy | 607855 | C1263858 | OMIM | 1 | | 3283 | 6482 | 156225 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | LAMA2 CL E G H | 3908 | 618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | 618138 | | OMIM | 1 | | 3283 | 6482 | 156225 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | LAMA2 CL E G H | 3908 | 618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | 618138 | | OMIM | 1 | | 3283 | 6482 | 156225 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | LAMA2 CL E G H | 3908 | 618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | 618138 | | OMIM | 1 | | 3283 | 6482 | 156225 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | LAMB2 CL E G H | 3913 | 609049 | Pierson syndrome | 609049 | C1836876 | OMIM | 1 | | 677 | 6487 | 150325 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | LAMB2 CL E G H | 3913 | 609049 | Pierson syndrome | 609049 | C1836876 | OMIM | 1 | | 677 | 6487 | 150325 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | LAMB2 CL E G H | 3913 | 609049 | Pierson syndrome | 609049 | C1836876 | OMIM | 1 | | 677 | 6487 | 150325 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | LARGE1 CL E G H | 9215 | 613154 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 613154 | C3150414 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | LARGE1 CL E G H | 9215 | 613154 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 613154 | C3150414 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | LARGE1 CL E G H | 9215 | 613154 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 613154 | C3150414 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | LGI4 CL E G H | 163175 | 617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 617468 | C4479539 | OMIM | 1 | | 79 | 18712 | 608303 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | LGI4 CL E G H | 163175 | 617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 617468 | C4479539 | OMIM | 1 | | 79 | 18712 | 608303 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | LGI4 CL E G H | 163175 | 617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 617468 | C4479539 | OMIM | 1 | | 79 | 18712 | 608303 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | LPIN1 CL E G H | 23175 | 268200 | Myoglobinuria, acute recurrent, autosomal recessive | 268200 | C1849386 | OMIM | 1 | | 401 | 13345 | 605518 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | LPIN1 CL E G H | 23175 | 268200 | Myoglobinuria, acute recurrent, autosomal recessive | 268200 | C1849386 | OMIM | 1 | | 401 | 13345 | 605518 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | LPIN1 CL E G H | 23175 | 268200 | Myoglobinuria, acute recurrent, autosomal recessive | 268200 | C1849386 | OMIM | 1 | | 401 | 13345 | 605518 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 1754 | 1968 | 606897 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 1754 | 1968 | 606897 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 1754 | 1968 | 606897 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MARS CL E G H | 4141 | 616280 | Charcot-Marie-Tooth disease, axonal, type 2u | 616280 | C4084821 | OMIM | 1 | | | 6898 | 156560 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MARS CL E G H | 4141 | 616280 | Charcot-Marie-Tooth disease, axonal, type 2u | 616280 | C4084821 | OMIM | 1 | | | 6898 | 156560 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MARS CL E G H | 4141 | 616280 | Charcot-Marie-Tooth disease, axonal, type 2u | 616280 | C4084821 | OMIM | 1 | | | 6898 | 156560 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | 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:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | 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:0001284 | HP:0031004 | Hemiareflexia | 1 | 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:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MME CL E G H | 4311 | 617017 | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | C4015635 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MME CL E G H | 4311 | 617017 | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | C4015635 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MME CL E G H | 4311 | 617017 | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | C4015635 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 585 | 23573 | 616661 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 585 | 23573 | 616661 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 585 | 23573 | 616661 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 200 | 7224 | 137960 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 200 | 7224 | 137960 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 200 | 7224 | 137960 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MTM1 CL E G H | 4534 | 596 | Albright like syndrome | | | ORPHA | 1 | | 720 | 7448 | 300415 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MTM1 CL E G H | 4534 | 596 | Albright like syndrome | | | ORPHA | 1 | | 720 | 7448 | 300415 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MTM1 CL E G H | 4534 | 596 | Albright like syndrome | | | ORPHA | 1 | | 720 | 7448 | 300415 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 642 | 7679 | 605262 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 642 | 7679 | 605262 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 642 | 7679 | 605262 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | OCRL CL E G H | 4952 | 534 | Acute myeloblastic leukemia without maturation | | | ORPHA | 1 | | 508 | 8108 | 300535 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | OCRL CL E G H | 4952 | 534 | Acute myeloblastic leukemia without maturation | | | ORPHA | 1 | | 508 | 8108 | 300535 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | OCRL CL E G H | 4952 | 534 | Acute myeloblastic leukemia without maturation | | | ORPHA | 1 | | 508 | 8108 | 300535 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PDSS1 CL E G H | 23590 | 614651 | Coenzyme Q10 deficiency, primary, 2 | 614651 | C3553354 | OMIM | 1 | | 196 | 17759 | 607429 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PDSS1 CL E G H | 23590 | 614651 | Coenzyme Q10 deficiency, primary, 2 | 614651 | C3553354 | OMIM | 1 | | 196 | 17759 | 607429 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PDSS1 CL E G H | 23590 | 614651 | Coenzyme Q10 deficiency, primary, 2 | 614651 | C3553354 | OMIM | 1 | | 196 | 17759 | 607429 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PEX1 CL E G H | 5189 | 214100 | Zellweger syndrome | 214100 | C0043459 | OMIM | 1 | | 1205 | 8850 | 602136 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PEX1 CL E G H | 5189 | 214100 | Zellweger syndrome | 214100 | C0043459 | OMIM | 1 | | 1205 | 8850 | 602136 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PEX1 CL E G H | 5189 | 214100 | Zellweger syndrome | 214100 | C0043459 | OMIM | 1 | | 1205 | 8850 | 602136 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PEX11B CL E G H | 8799 | 614920 | Peroxisome biogenesis disorder 14B | 614920 | C3554055 | OMIM | 1 | | 350 | 8853 | 603867 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PEX11B CL E G H | 8799 | 614920 | Peroxisome biogenesis disorder 14B | 614920 | C3554055 | OMIM | 1 | | 350 | 8853 | 603867 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PEX11B CL E G H | 8799 | 614920 | Peroxisome biogenesis disorder 14B | 614920 | C3554055 | OMIM | 1 | | 350 | 8853 | 603867 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PEX12 CL E G H | 5193 | 614859 | Peroxisome biogenesis disorder 3A | 614859 | C3553929 | OMIM | 1 | | 360 | 8854 | 601758 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PEX12 CL E G H | 5193 | 614859 | Peroxisome biogenesis disorder 3A | 614859 | C3553929 | OMIM | 1 | | 360 | 8854 | 601758 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PEX12 CL E G H | 5193 | 614859 | Peroxisome biogenesis disorder 3A | 614859 | C3553929 | OMIM | 1 | | 360 | 8854 | 601758 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PEX2 CL E G H | 5828 | 614866 | Peroxisome biogenesis disorder 5a (zellweger) | 614866 | C3553940 | OMIM | 1 | | 366 | 9717 | 170993 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PEX2 CL E G H | 5828 | 614866 | Peroxisome biogenesis disorder 5a (zellweger) | 614866 | C3553940 | OMIM | 1 | | 366 | 9717 | 170993 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PEX2 CL E G H | 5828 | 614866 | Peroxisome biogenesis disorder 5a (zellweger) | 614866 | C3553940 | OMIM | 1 | | 366 | 9717 | 170993 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PEX3 CL E G H | 8504 | 614882 | Peroxisome biogenesis disorder 10A | 614882 | C3553999 | OMIM | 1 | | 271 | 8858 | 603164 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PEX3 CL E G H | 8504 | 614882 | Peroxisome biogenesis disorder 10A | 614882 | C3553999 | OMIM | 1 | | 271 | 8858 | 603164 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PEX3 CL E G H | 8504 | 614882 | Peroxisome biogenesis disorder 10A | 614882 | C3553999 | OMIM | 1 | | 271 | 8858 | 603164 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PIK3R5 CL E G H | 23533 | 64753 | | | | ORPHA | 1 | | 48 | 30035 | 611317 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PIK3R5 CL E G H | 23533 | 64753 | | | | ORPHA | 1 | | 48 | 30035 | 611317 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PIK3R5 CL E G H | 23533 | 64753 | | | | ORPHA | 1 | | 48 | 30035 | 611317 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PIK3R5 CL E G H | 23533 | 615217 | Ataxia-oculomotor apraxia 3 | 615217 | C3554690 | OMIM | 1 | | 48 | 30035 | 611317 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PIK3R5 CL E G H | 23533 | 615217 | Ataxia-oculomotor apraxia 3 | 615217 | C3554690 | OMIM | 1 | | 48 | 30035 | 611317 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PIK3R5 CL E G H | 23533 | 615217 | Ataxia-oculomotor apraxia 3 | 615217 | C3554690 | OMIM | 1 | | 48 | 30035 | 611317 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PNKP CL E G H | 11284 | 616267 | Ataxia-oculomotor apraxia 4 | 616267 | C4225397 | OMIM | 1 | | 875 | 9154 | 605610 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PNKP CL E G H | 11284 | 616267 | Ataxia-oculomotor apraxia 4 | 616267 | C4225397 | OMIM | 1 | | 875 | 9154 | 605610 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PNKP CL E G H | 11284 | 616267 | Ataxia-oculomotor apraxia 4 | 616267 | C4225397 | OMIM | 1 | | 875 | 9154 | 605610 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 346 | 25902 | 614828 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 346 | 25902 | 614828 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 346 | 25902 | 614828 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 244 | 26267 | 615247 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 244 | 26267 | 615247 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 244 | 26267 | 615247 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | POMT2 CL E G H | 29954 | 613156 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 613156 | C3150416 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | POMT2 CL E G H | 29954 | 613156 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 613156 | C3150416 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | POMT2 CL E G H | 29954 | 613156 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 613156 | C3150416 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PRPS1 CL E G H | 5631 | 1187 | Cerebellar agenesis | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PRPS1 CL E G H | 5631 | 1187 | Cerebellar agenesis | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PRPS1 CL E G H | 5631 | 1187 | Cerebellar agenesis | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PRX CL E G H | 57716 | 614895 | Charcot-Marie-Tooth disease, demyelinating, type 4f | 614895 | C3540453 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PRX CL E G H | 57716 | 614895 | Charcot-Marie-Tooth disease, demyelinating, type 4f | 614895 | C3540453 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PRX CL E G H | 57716 | 614895 | Charcot-Marie-Tooth disease, demyelinating, type 4f | 614895 | C3540453 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | RAI1 CL E G H | 10743 | 182290 | Smith-Magenis syndrome | 182290 | C0795864 | OMIM | 1 | | 1149 | 9834 | 607642 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | RAI1 CL E G H | 10743 | 182290 | Smith-Magenis syndrome | 182290 | C0795864 | OMIM | 1 | | 1149 | 9834 | 607642 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | RAI1 CL E G H | 10743 | 182290 | Smith-Magenis syndrome | 182290 | C0795864 | OMIM | 1 | | 1149 | 9834 | 607642 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | RETREG1 CL E G H | 54463 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | RETREG1 CL E G H | 54463 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | RETREG1 CL E G H | 54463 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0001284 | HP:0002522 | Areflexia of lower limbs | 1 | RETREG1 CL E G H | 54463 | 613115 | Hereditary sensory and autonomic neuropathy type IIB | 613115 | C2751092 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0001284 | HP:0012046 | Areflexia of upper limbs | 1 | RETREG1 CL E G H | 54463 | 613115 | Hereditary sensory and autonomic neuropathy type IIB | 613115 | C2751092 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0001284 | HP:0031004 | Hemiareflexia | 1 | RETREG1 CL E G H | |