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:0002460 | HP:0002460 | Distal muscle weakness | 0 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | ABCA1 CL E G H | 19 | 31150 | | | | ORPHA | 1 | | 1280 | 29 | 600046 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 114 | 483 | 105850 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 1162 | 27337 | 608662 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1751 | 869 | 300011 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 1 | | 740 | 17208 | 609797 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1718 | 2211 | 120220 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 3001 | 2213 | 120250 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 542 | 2226 | 603033 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 49 | 24891 | 615820 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 976 | 2770 | 125660 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 1 | | 102 | 2865 | 605423 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 1088 | 2974 | 602378 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 3787 | 2961 | 600112 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 926 | 16873 | 609390 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 529 | 24682 | 609144 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 947 | 23657 | 603824 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 147 | 4670 | 607434 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 559 | 4922 | 142600 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 223 | 30171 | 608014 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 1138 | 5542 | 600502 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 57 | 14201 | 605266 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2591 | 16636 | 605995 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 915 | 6487 | 150325 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 290 | 16841 | 603795 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MAP3K20 CL E G H | 51776 | 617760 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | 617760 | C4540345 | OMIM | 1 | | 368 | 17797 | 609479 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 666 | 28845 | 610197 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 540 | 7450 | 603557 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 1062 | 23212 | 608568 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 734 | 7679 | 605262 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 415 | 9462 | 311850 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1243 | 13797 | 605725 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 193 | 9788 | 602298 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1456 | 2135 | 607697 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1674 | 29427 | 608206 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 247 | 8157 | 601978 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 455 | 14025 | 608761 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 391 | 11277 | 605712 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SPTLC2 CL E G H | 9517 | 613640 | Hereditary sensory and autonomic neuropathy type IC | 613640 | C3150896 | OMIM | 1 | | 582 | 11278 | 605713 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 232 | 11510 | 600104 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 250 | 11802 | 603518 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | TTN CL E G H | 7273 | 608807 | Limb-girdle muscular dystrophy, type 2J | 608807 | C1837342 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | ABCA1 CL E G H | 19 | 31150 | | | | ORPHA | 1 | | 1280 | 29 | 600046 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | ABCA1 CL E G H | 19 | 31150 | | | | ORPHA | 1 | | 1280 | 29 | 600046 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | ABCA1 CL E G H | 19 | 31150 | | | | ORPHA | 1 | | 1280 | 29 | 600046 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | ABCA1 CL E G H | 19 | 31150 | | | | ORPHA | 1 | | 1280 | 29 | 600046 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | ABCA1 CL E G H | 19 | 31150 | | | | ORPHA | 1 | | 1280 | 29 | 600046 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | ABCA1 CL E G H | 19 | 31150 | | | | ORPHA | 1 | | 1280 | 29 | 600046 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 114 | 483 | 105850 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 114 | 483 | 105850 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 114 | 483 | 105850 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 114 | 483 | 105850 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 114 | 483 | 105850 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 114 | 483 | 105850 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 1162 | 27337 | 608662 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 1162 | 27337 | 608662 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 1162 | 27337 | 608662 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 1162 | 27337 | 608662 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 1162 | 27337 | 608662 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 1162 | 27337 | 608662 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1751 | 869 | 300011 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1751 | 869 | 300011 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1751 | 869 | 300011 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1751 | 869 | 300011 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1751 | 869 | 300011 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1751 | 869 | 300011 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 1 | | 740 | 17208 | 609797 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 1 | | 740 | 17208 | 609797 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 1 | | 740 | 17208 | 609797 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 1 | | 740 | 17208 | 609797 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 1 | | 740 | 17208 | 609797 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 1 | | 740 | 17208 | 609797 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1718 | 2211 | 120220 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1718 | 2211 | 120220 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1718 | 2211 | 120220 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1718 | 2211 | 120220 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1718 | 2211 | 120220 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1718 | 2211 | 120220 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 3001 | 2213 | 120250 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 3001 | 2213 | 120250 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 3001 | 2213 | 120250 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 3001 | 2213 | 120250 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 3001 | 2213 | 120250 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 3001 | 2213 | 120250 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 542 | 2226 | 603033 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 542 | 2226 | 603033 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 542 | 2226 | 603033 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 542 | 2226 | 603033 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 542 | 2226 | 603033 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 542 | 2226 | 603033 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 49 | 24891 | 615820 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 49 | 24891 | 615820 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 49 | 24891 | 615820 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 49 | 24891 | 615820 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 49 | 24891 | 615820 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 49 | 24891 | 615820 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 976 | 2770 | 125660 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 976 | 2770 | 125660 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 976 | 2770 | 125660 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 976 | 2770 | 125660 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 976 | 2770 | 125660 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 976 | 2770 | 125660 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 1 | | 102 | 2865 | 605423 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 1 | | 102 | 2865 | 605423 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 1 | | 102 | 2865 | 605423 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 1 | | 102 | 2865 | 605423 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 1 | | 102 | 2865 | 605423 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 1 | | 102 | 2865 | 605423 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 1088 | 2974 | 602378 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 1088 | 2974 | 602378 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 1088 | 2974 | 602378 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 1088 | 2974 | 602378 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 1088 | 2974 | 602378 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 1088 | 2974 | 602378 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 3787 | 2961 | 600112 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 3787 | 2961 | 600112 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 3787 | 2961 | 600112 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 3787 | 2961 | 600112 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 3787 | 2961 | 600112 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 3787 | 2961 | 600112 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 926 | 16873 | 609390 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 926 | 16873 | 609390 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 926 | 16873 | 609390 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 926 | 16873 | 609390 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 926 | 16873 | 609390 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 926 | 16873 | 609390 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 529 | 24682 | 609144 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 529 | 24682 | 609144 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 529 | 24682 | 609144 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 529 | 24682 | 609144 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 529 | 24682 | 609144 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 529 | 24682 | 609144 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 947 | 23657 | 603824 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 947 | 23657 | 603824 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 947 | 23657 | 603824 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 947 | 23657 | 603824 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 947 | 23657 | 603824 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 947 | 23657 | 603824 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 147 | 4670 | 607434 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 147 | 4670 | 607434 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 147 | 4670 | 607434 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 147 | 4670 | 607434 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 147 | 4670 | 607434 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 147 | 4670 | 607434 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 559 | 4922 | 142600 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 559 | 4922 | 142600 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 559 | 4922 | 142600 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 559 | 4922 | 142600 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 559 | 4922 | 142600 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 559 | 4922 | 142600 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 223 | 30171 | 608014 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 223 | 30171 | 608014 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 223 | 30171 | 608014 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 223 | 30171 | 608014 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 223 | 30171 | 608014 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 223 | 30171 | 608014 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 1138 | 5542 | 600502 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 1138 | 5542 | 600502 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 1138 | 5542 | 600502 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 1138 | 5542 | 600502 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 1138 | 5542 | 600502 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 1138 | 5542 | 600502 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 57 | 14201 | 605266 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 57 | 14201 | 605266 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 57 | 14201 | 605266 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 57 | 14201 | 605266 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 57 | 14201 | 605266 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 57 | 14201 | 605266 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2591 | 16636 | 605995 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2591 | 16636 | 605995 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2591 | 16636 | 605995 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2591 | 16636 | 605995 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2591 | 16636 | 605995 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2591 | 16636 | 605995 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 915 | 6487 | 150325 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 915 | 6487 | 150325 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 915 | 6487 | 150325 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 915 | 6487 | 150325 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 915 | 6487 | 150325 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 915 | 6487 | 150325 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 290 | 16841 | 603795 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 290 | 16841 | 603795 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 290 | 16841 | 603795 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 290 | 16841 | 603795 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 290 | 16841 | 603795 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 290 | 16841 | 603795 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MAP3K20 CL E G H | 51776 | 617760 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | 617760 | C4540345 | OMIM | 1 | | 368 | 17797 | 609479 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MAP3K20 CL E G H | 51776 | 617760 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | 617760 | C4540345 | OMIM | 1 | | 368 | 17797 | 609479 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MAP3K20 CL E G H | 51776 | 617760 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | 617760 | C4540345 | OMIM | 1 | | 368 | 17797 | 609479 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MAP3K20 CL E G H | 51776 | 617760 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | 617760 | C4540345 | OMIM | 1 | | 368 | 17797 | 609479 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MAP3K20 CL E G H | 51776 | 617760 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | 617760 | C4540345 | OMIM | 1 | | 368 | 17797 | 609479 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MAP3K20 CL E G H | 51776 | 617760 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | 617760 | C4540345 | OMIM | 1 | | 368 | 17797 | 609479 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 666 | 28845 | 610197 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 666 | 28845 | 610197 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 666 | 28845 | 610197 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 666 | 28845 | 610197 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 666 | 28845 | 610197 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 666 | 28845 | 610197 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 540 | 7450 | 603557 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 540 | 7450 | 603557 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 540 | 7450 | 603557 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 540 | 7450 | 603557 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 540 | 7450 | 603557 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 540 | 7450 | 603557 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 1062 | 23212 | 608568 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 1062 | 23212 | 608568 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 1062 | 23212 | 608568 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 1062 | 23212 | 608568 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 1062 | 23212 | 608568 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 1062 | 23212 | 608568 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 734 | 7679 | 605262 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 734 | 7679 | 605262 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 734 | 7679 | 605262 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 734 | 7679 | 605262 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 734 | 7679 | 605262 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 734 | 7679 | 605262 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 415 | 9462 | 311850 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 415 | 9462 | 311850 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 415 | 9462 | 311850 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 415 | 9462 | 311850 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 415 | 9462 | 311850 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 415 | 9462 | 311850 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1243 | 13797 | 605725 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1243 | 13797 | 605725 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1243 | 13797 | 605725 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1243 | 13797 | 605725 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1243 | 13797 | 605725 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1243 | 13797 | 605725 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 193 | 9788 | 602298 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 193 | 9788 | 602298 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 193 | 9788 | 602298 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 193 | 9788 | 602298 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 193 | 9788 | 602298 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 193 | 9788 | 602298 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1456 | 2135 | 607697 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1456 | 2135 | 607697 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1456 | 2135 | 607697 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1456 | 2135 | 607697 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1456 | 2135 | 607697 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1456 | 2135 | 607697 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1674 | 29427 | 608206 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1674 | 29427 | 608206 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1674 | 29427 | 608206 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1674 | 29427 | 608206 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1674 | 29427 | 608206 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1674 | 29427 | 608206 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 247 | 8157 | 601978 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 247 | 8157 | 601978 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 247 | 8157 | 601978 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 247 | 8157 | 601978 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 247 | 8157 | 601978 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 247 | 8157 | 601978 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 455 | 14025 | 608761 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 455 | 14025 | 608761 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 455 | 14025 | 608761 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 455 | 14025 | 608761 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 455 | 14025 | 608761 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 455 | 14025 | 608761 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 391 | 11277 | 605712 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 391 | 11277 | 605712 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 391 | 11277 | 605712 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 391 | 11277 | 605712 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 391 | 11277 | 605712 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 391 | 11277 | 605712 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SPTLC2 CL E G H | 9517 | 613640 | Hereditary sensory and autonomic neuropathy type IC | 613640 | C3150896 | OMIM | 1 | | 582 | 11278 | 605713 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SPTLC2 CL E G H | 9517 | 613640 | Hereditary sensory and autonomic neuropathy type IC | 613640 | C3150896 | OMIM | 1 | | 582 | 11278 | 605713 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SPTLC2 CL E G H | 9517 | 613640 | Hereditary sensory and autonomic neuropathy type IC | 613640 | C3150896 | OMIM | 1 | | 582 | 11278 | 605713 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SPTLC2 CL E G H | 9517 | 613640 | Hereditary sensory and autonomic neuropathy type IC | 613640 | C3150896 | OMIM | 1 | | 582 | 11278 | 605713 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SPTLC2 CL E G H | 9517 | 613640 | Hereditary sensory and autonomic neuropathy type IC | 613640 | C3150896 | OMIM | 1 | | 582 | 11278 | 605713 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SPTLC2 CL E G H | 9517 | 613640 | Hereditary sensory and autonomic neuropathy type IC | 613640 | C3150896 | OMIM | 1 | | 582 | 11278 | 605713 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 232 | 11510 | 600104 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 232 | 11510 | 600104 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 232 | 11510 | 600104 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 232 | 11510 | 600104 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 232 | 11510 | 600104 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 232 | 11510 | 600104 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 250 | 11802 | 603518 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 250 | 11802 | 603518 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 250 | 11802 | 603518 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 250 | 11802 | 603518 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 250 | 11802 | 603518 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 250 | 11802 | 603518 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | TTN CL E G H | 7273 | 608807 | Limb-girdle muscular dystrophy, type 2J | 608807 | C1837342 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | TTN CL E G H | 7273 | 608807 | Limb-girdle muscular dystrophy, type 2J | 608807 | C1837342 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | TTN CL E G H | 7273 | 608807 | Limb-girdle muscular dystrophy, type 2J | 608807 | C1837342 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | TTN CL E G H | 7273 | 608807 | Limb-girdle muscular dystrophy, type 2J | 608807 | C1837342 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | TTN CL E G H | 7273 | 608807 | Limb-girdle muscular dystrophy, type 2J | 608807 | C1837342 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | TTN CL E G H | 7273 | 608807 | Limb-girdle muscular dystrophy, type 2J | 608807 | C1837342 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | ABCA1 CL E G H | 19 | 31150 | | | | ORPHA | 1 | | 1280 | 29 | 600046 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | ABCA1 CL E G H | 19 | 31150 | | | | ORPHA | 1 | | 1280 | 29 | 600046 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 114 | 483 | 105850 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 114 | 483 | 105850 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 1162 | 27337 | 608662 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | ANO5 CL E G H | 203859 | 613319 | Miyoshi muscular dystrophy 3 | 613319 | C2750076 | OMIM | 1 | | 1162 | 27337 | 608662 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1751 | 869 | 300011 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1751 | 869 | 300011 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 65 | 7106 | 607047 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 1 | | 740 | 17208 | 609797 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | BICD2 CL E G H | 23299 | 363454 | | | | ORPHA | 1 | | 740 | 17208 | 609797 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1718 | 2211 | 120220 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1718 | 2211 | 120220 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1928 | 2212 | 120240 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 3001 | 2213 | 120250 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 3001 | 2213 | 120250 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 542 | 2226 | 603033 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 542 | 2226 | 603033 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 49 | 24891 | 615820 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 49 | 24891 | 615820 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 976 | 2770 | 125660 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 976 | 2770 | 125660 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 1 | | 102 | 2865 | 605423 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 1 | | 102 | 2865 | 605423 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 1088 | 2974 | 602378 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 1088 | 2974 | 602378 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 3787 | 2961 | 600112 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 3787 | 2961 | 600112 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 373 | 3239 | 129010 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 926 | 16873 | 609390 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 926 | 16873 | 609390 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 529 | 24682 | 609144 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 529 | 24682 | 609144 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 537 | 15968 | 606598 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 860 | 4283 | 304040 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 947 | 23657 | 603824 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 947 | 23657 | 603824 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 147 | 4670 | 607434 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 147 | 4670 | 607434 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 559 | 4922 | 142600 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 559 | 4922 | 142600 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 223 | 30171 | 608014 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 223 | 30171 | 608014 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 1138 | 5542 | 600502 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 1138 | 5542 | 600502 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 57 | 14201 | 605266 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 57 | 14201 | 605266 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2591 | 16636 | 605995 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2591 | 16636 | 605995 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 915 | 6487 | 150325 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 915 | 6487 | 150325 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 290 | 16841 | 603795 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 290 | 16841 | 603795 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MAP3K20 CL E G H | 51776 | 617760 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | 617760 | C4540345 | OMIM | 1 | | 368 | 17797 | 609479 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MAP3K20 CL E G H | 51776 | 617760 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | 617760 | C4540345 | OMIM | 1 | | 368 | 17797 | 609479 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 1 | | 450 | 6912 | 164015 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 666 | 28845 | 610197 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 666 | 28845 | 610197 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 540 | 7450 | 603557 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 540 | 7450 | 603557 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 1062 | 23212 | 608568 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 1062 | 23212 | 608568 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 372 | 12399 | 604103 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 734 | 7679 | 605262 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 734 | 7679 | 605262 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 614 | 7739 | 162280 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 85 | 8565 | 602279 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 1080 | 29105 | 611101 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 492 | 9118 | 601097 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 415 | 9462 | 311850 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 415 | 9462 | 311850 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1243 | 13797 | 605725 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1243 | 13797 | 605725 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 193 | 9788 | 602298 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 193 | 9788 | 602298 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 434 | 25786 | 609139 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 3377 | 10519 | 604490 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1456 | 2135 | 607697 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1456 | 2135 | 607697 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1674 | 29427 | 608206 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1674 | 29427 | 608206 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 247 | 8157 | 601978 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 247 | 8157 | 601978 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 455 | 14025 | 608761 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 455 | 14025 | 608761 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 391 | 11277 | 605712 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 391 | 11277 | 605712 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SPTLC2 CL E G H | 9517 | 613640 | Hereditary sensory and autonomic neuropathy type IC | 613640 | C3150896 | OMIM | 1 | | 582 | 11278 | 605713 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SPTLC2 CL E G H | 9517 | 613640 | Hereditary sensory and autonomic neuropathy type IC | 613640 | C3150896 | OMIM | 1 | | 582 | 11278 | 605713 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 232 | 11510 | 600104 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 232 | 11510 | 600104 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 250 | 11802 | 603518 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 250 | 11802 | 603518 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 1 | | 442 | 11831 | 188250 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 1018 | 18083 | 605427 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | TTN CL E G H | 7273 | 608807 | Limb-girdle muscular dystrophy, type 2J | 608807 | C1837342 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | TTN CL E G H | 7273 | 608807 | Limb-girdle muscular dystrophy, type 2J | 608807 | C1837342 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 0 | | 144 | 28287 | 612866 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 0 | | 335 | 23159 | 607905 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 0 | | | 28449 | 615699 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 0 | | 312 | 2995 | 191350 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 0 | | 105 | 21308 | 611805 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 0 | | 454 | 3602 | 604580 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 0 | | 524 | 4241 | 138292 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 0 | | 364 | 22932 | 615320 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | GYG1 CL E G H | 2992 | 616199 | Polyglucosan body myopathy 2 | 616199 | C4015452 | OMIM | 0 | | 273 | 4699 | 603942 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | MYH2 CL E G H | 4620 | 605637 | Inclusion body myopathy 3 | 605637 | C1854106 | OMIM | 0 | | 1161 | 7572 | 160740 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 0 | | 275 | 9955 | 164014 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0002460 | Distal muscle weakness | 0 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 0 | | 144 | 28287 | 612866 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 0 | | 144 | 28287 | 612866 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 0 | | 144 | 28287 | 612866 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 0 | | 144 | 28287 | 612866 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 0 | | 144 | 28287 | 612866 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 0 | | 144 | 28287 | 612866 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 0 | | 335 | 23159 | 607905 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 0 | | 335 | 23159 | 607905 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 0 | | 335 | 23159 | 607905 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 0 | | 335 | 23159 | 607905 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 0 | | 335 | 23159 | 607905 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 0 | | 335 | 23159 | 607905 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 0 | | | 28449 | 615699 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 0 | | | 28449 | 615699 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 0 | | | 28449 | 615699 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 0 | | | 28449 | 615699 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 0 | | | 28449 | 615699 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 0 | | | 28449 | 615699 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 0 | | 312 | 2995 | 191350 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 0 | | 312 | 2995 | 191350 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 0 | | 312 | 2995 | 191350 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 0 | | 312 | 2995 | 191350 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 0 | | 312 | 2995 | 191350 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 0 | | 312 | 2995 | 191350 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 0 | | 105 | 21308 | 611805 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 0 | | 105 | 21308 | 611805 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 0 | | 105 | 21308 | 611805 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 0 | | 105 | 21308 | 611805 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 0 | | 105 | 21308 | 611805 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 0 | | 105 | 21308 | 611805 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 0 | | 454 | 3602 | 604580 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 0 | | 454 | 3602 | 604580 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 0 | | 454 | 3602 | 604580 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 0 | | 454 | 3602 | 604580 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 0 | | 454 | 3602 | 604580 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 0 | | 454 | 3602 | 604580 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 0 | | 524 | 4241 | 138292 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 0 | | 524 | 4241 | 138292 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 0 | | 524 | 4241 | 138292 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 0 | | 524 | 4241 | 138292 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 0 | | 524 | 4241 | 138292 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 0 | | 524 | 4241 | 138292 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 0 | | 364 | 22932 | 615320 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 0 | | 364 | 22932 | 615320 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 0 | | 364 | 22932 | 615320 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 0 | | 364 | 22932 | 615320 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 0 | | 364 | 22932 | 615320 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 0 | | 364 | 22932 | 615320 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | GYG1 CL E G H | 2992 | 616199 | Polyglucosan body myopathy 2 | 616199 | C4015452 | OMIM | 0 | | 273 | 4699 | 603942 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | GYG1 CL E G H | 2992 | 616199 | Polyglucosan body myopathy 2 | 616199 | C4015452 | OMIM | 0 | | 273 | 4699 | 603942 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | GYG1 CL E G H | 2992 | 616199 | Polyglucosan body myopathy 2 | 616199 | C4015452 | OMIM | 0 | | 273 | 4699 | 603942 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | GYG1 CL E G H | 2992 | 616199 | Polyglucosan body myopathy 2 | 616199 | C4015452 | OMIM | 0 | | 273 | 4699 | 603942 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | GYG1 CL E G H | 2992 | 616199 | Polyglucosan body myopathy 2 | 616199 | C4015452 | OMIM | 0 | | 273 | 4699 | 603942 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | GYG1 CL E G H | 2992 | 616199 | Polyglucosan body myopathy 2 | 616199 | C4015452 | OMIM | 0 | | 273 | 4699 | 603942 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | MYH2 CL E G H | 4620 | 605637 | Inclusion body myopathy 3 | 605637 | C1854106 | OMIM | 0 | | 1161 | 7572 | 160740 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | MYH2 CL E G H | 4620 | 605637 | Inclusion body myopathy 3 | 605637 | C1854106 | OMIM | 0 | | 1161 | 7572 | 160740 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | MYH2 CL E G H | 4620 | 605637 | Inclusion body myopathy 3 | 605637 | C1854106 | OMIM | 0 | | 1161 | 7572 | 160740 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | MYH2 CL E G H | 4620 | 605637 | Inclusion body myopathy 3 | 605637 | C1854106 | OMIM | 0 | | 1161 | 7572 | 160740 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | MYH2 CL E G H | 4620 | 605637 | Inclusion body myopathy 3 | 605637 | C1854106 | OMIM | 0 | | 1161 | 7572 | 160740 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | MYH2 CL E G H | 4620 | 605637 | Inclusion body myopathy 3 | 605637 | C1854106 | OMIM | 0 | | 1161 | 7572 | 160740 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 0 | | 275 | 9955 | 164014 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 0 | | 275 | 9955 | 164014 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 0 | | 275 | 9955 | 164014 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 0 | | 275 | 9955 | 164014 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 0 | | 275 | 9955 | 164014 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 0 | | 275 | 9955 | 164014 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0009053 | Distal lower limb muscle weakness | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002460 | HP:0003392 | First dorsal interossei muscle weakness | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002460 | HP:0002601 | Paresis of extensor muscles of the big toe | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002460 | HP:0008959 | Distal upper limb muscle weakness | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002460 | HP:0009063 | Progressive distal muscle weakness | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002460 | HP:0003810 | Late-onset distal muscle weakness | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 0 | | 144 | 28287 | 612866 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | ALG14 CL E G H | 199857 | 353327 | | | | ORPHA | 0 | | 144 | 28287 | 612866 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 0 | | 335 | 23159 | 607905 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | ALG2 CL E G H | 85365 | 353327 | | | | ORPHA | 0 | | 335 | 23159 | 607905 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 0 | | | 28449 | 615699 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | C11orf95 CL E G H | 65998 | 251636 | | | | ORPHA | 0 | | | 28449 | 615699 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 0 | | 312 | 2995 | 191350 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | DPAGT1 CL E G H | 1798 | 353327 | | | | ORPHA | 0 | | 312 | 2995 | 191350 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 0 | | 105 | 21308 | 611805 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 0 | | 105 | 21308 | 611805 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 0 | | 454 | 3602 | 604580 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 0 | | 454 | 3602 | 604580 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 0 | | 524 | 4241 | 138292 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GFPT1 CL E G H | 2673 | 353327 | | | | ORPHA | 0 | | 524 | 4241 | 138292 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 0 | | 364 | 22932 | 615320 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GMPPB CL E G H | 29925 | 353327 | | | | ORPHA | 0 | | 364 | 22932 | 615320 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | GYG1 CL E G H | 2992 | 616199 | Polyglucosan body myopathy 2 | 616199 | C4015452 | OMIM | 0 | | 273 | 4699 | 603942 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | GYG1 CL E G H | 2992 | 616199 | Polyglucosan body myopathy 2 | 616199 | C4015452 | OMIM | 0 | | 273 | 4699 | 603942 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | MYH2 CL E G H | 4620 | 605637 | Inclusion body myopathy 3 | 605637 | C1854106 | OMIM | 0 | | 1161 | 7572 | 160740 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | MYH2 CL E G H | 4620 | 605637 | Inclusion body myopathy 3 | 605637 | C1854106 | OMIM | 0 | | 1161 | 7572 | 160740 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 0 | | 275 | 9955 | 164014 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | RELA CL E G H | 5970 | 251636 | | | | ORPHA | 0 | | 275 | 9955 | 164014 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1556 | 445 | 608465 |
HP:0002460 | HP:0008963 | Tibialis muscle weakness | 2 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002460 | HP:0011727 | Peroneal muscle weakness | 2 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |