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:0003693 | HP:0003693 | Distal amyotrophy | 0 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1774 | 321 | 610860 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 97 | 483 | 105850 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | CCT5 CL E G H | 22948 | 256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | 256840 | C1850395 | OMIM | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | IBA57 CL E G H | 200205 | 468661 | | | | ORPHA | 1 | | 178 | 27302 | 615316 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 41 | 14201 | 605266 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2132 | 888 | 601255 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 366 | 6317 | 603060 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 366 | 6317 | 603060 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 270 | 16841 | 603795 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1729 | 7230 | 600814 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 85 | 29678 | 617619 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | 603557 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 295 | 12399 | 604103 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 642 | 7679 | 605262 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 179 | 7693 | 603834 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | PNPLA6 CL E G H | 10908 | 612020 | Spastic paraplegia 39 | 612020 | C2677586 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 2506 | 10519 | 604490 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1226 | 2135 | 607697 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2186 | 10680 | 600857 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 60 | 33867 | 612848 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1099 | 10681 | 185470 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 607 | 10683 | 602690 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 274 | 18514 | 607111 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 357 | 11582 | 604934 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 357 | 11582 | 604934 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | TDP1 CL E G H | 55775 | 94124 | | | | ORPHA | 1 | | 208 | 18884 | 607198 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | TDP1 CL E G H | 55775 | 607250 | Spinocerebellar ataxia autosomal recessive with axonal neuropathy | 607250 | C1846574 | OMIM | 1 | | 208 | 18884 | 607198 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 190 | 11802 | 603518 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | TRPV4 CL E G H | 59341 | 1216 | | | | ORPHA | 1 | | 891 | 18083 | 605427 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 803 | 3148 | 131222 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 473 | 12666 | 601023 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ZC4H2 CL E G H | 55906 | 3454 | | | | ORPHA | 1 | | 237 | 24931 | 300897 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0003693 | HP:0003693 | Distal amyotrophy | 0 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1774 | 321 | 610860 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1774 | 321 | 610860 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1774 | 321 | 610860 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1774 | 321 | 610860 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 97 | 483 | 105850 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 97 | 483 | 105850 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 97 | 483 | 105850 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 97 | 483 | 105850 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | CCT5 CL E G H | 22948 | 256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | 256840 | C1850395 | OMIM | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | CCT5 CL E G H | 22948 | 256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | 256840 | C1850395 | OMIM | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | CCT5 CL E G H | 22948 | 256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | 256840 | C1850395 | OMIM | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | CCT5 CL E G H | 22948 | 256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | 256840 | C1850395 | OMIM | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | IBA57 CL E G H | 200205 | 468661 | | | | ORPHA | 1 | | 178 | 27302 | 615316 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | IBA57 CL E G H | 200205 | 468661 | | | | ORPHA | 1 | | 178 | 27302 | 615316 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | IBA57 CL E G H | 200205 | 468661 | | | | ORPHA | 1 | | 178 | 27302 | 615316 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | IBA57 CL E G H | 200205 | 468661 | | | | ORPHA | 1 | | 178 | 27302 | 615316 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | IGHMBP2 CL E G H | 3508 | 604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | 604320 | C1858517 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 41 | 14201 | 605266 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 41 | 14201 | 605266 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 41 | 14201 | 605266 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 41 | 14201 | 605266 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2132 | 888 | 601255 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2132 | 888 | 601255 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2132 | 888 | 601255 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2132 | 888 | 601255 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 366 | 6317 | 603060 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 366 | 6317 | 603060 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 366 | 6317 | 603060 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 366 | 6317 | 603060 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 366 | 6317 | 603060 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 366 | 6317 | 603060 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 366 | 6317 | 603060 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 366 | 6317 | 603060 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 270 | 16841 | 603795 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 270 | 16841 | 603795 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 270 | 16841 | 603795 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 270 | 16841 | 603795 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MED25 CL E G H | 81857 | 605589 | Charcot-Marie-Tooth disease type 2B2 | 605589 | C1854150 | OMIM | 1 | | 525 | 28845 | 610197 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MPZ CL E G H | 4359 | 607791 | Charcot-Marie-Tooth disease dominant intermediate 3 | 607791 | C1843075 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1729 | 7230 | 600814 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1729 | 7230 | 600814 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1729 | 7230 | 600814 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1729 | 7230 | 600814 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 85 | 29678 | 617619 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 85 | 29678 | 617619 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 85 | 29678 | 617619 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 85 | 29678 | 617619 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | 603557 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | 603557 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | 603557 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | 603557 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 295 | 12399 | 604103 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 295 | 12399 | 604103 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 295 | 12399 | 604103 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 295 | 12399 | 604103 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 642 | 7679 | 605262 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 642 | 7679 | 605262 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 642 | 7679 | 605262 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 642 | 7679 | 605262 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 179 | 7693 | 603834 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 179 | 7693 | 603834 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 179 | 7693 | 603834 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 179 | 7693 | 603834 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | PLEKHG5 CL E G H | 57449 | 611067 | Distal spinal muscular atrophy, autosomal recessive 4 | 611067 | C1970211 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | PNPLA6 CL E G H | 10908 | 612020 | Spastic paraplegia 39 | 612020 | C2677586 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | PNPLA6 CL E G H | 10908 | 612020 | Spastic paraplegia 39 | 612020 | C2677586 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | PNPLA6 CL E G H | 10908 | 612020 | Spastic paraplegia 39 | 612020 | C2677586 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | PNPLA6 CL E G H | 10908 | 612020 | Spastic paraplegia 39 | 612020 | C2677586 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 2506 | 10519 | 604490 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 2506 | 10519 | 604490 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 2506 | 10519 | 604490 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 2506 | 10519 | 604490 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1226 | 2135 | 607697 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1226 | 2135 | 607697 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1226 | 2135 | 607697 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1226 | 2135 | 607697 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2186 | 10680 | 600857 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2186 | 10680 | 600857 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2186 | 10680 | 600857 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2186 | 10680 | 600857 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 60 | 33867 | 612848 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 60 | 33867 | 612848 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 60 | 33867 | 612848 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 60 | 33867 | 612848 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1099 | 10681 | 185470 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1099 | 10681 | 185470 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1099 | 10681 | 185470 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1099 | 10681 | 185470 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 607 | 10683 | 602690 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 607 | 10683 | 602690 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 607 | 10683 | 602690 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 607 | 10683 | 602690 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 274 | 18514 | 607111 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 274 | 18514 | 607111 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 274 | 18514 | 607111 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 274 | 18514 | 607111 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 357 | 11582 | 604934 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 357 | 11582 | 604934 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 357 | 11582 | 604934 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 357 | 11582 | 604934 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 357 | 11582 | 604934 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 357 | 11582 | 604934 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 357 | 11582 | 604934 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 357 | 11582 | 604934 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | TDP1 CL E G H | 55775 | 94124 | | | | ORPHA | 1 | | 208 | 18884 | 607198 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | TDP1 CL E G H | 55775 | 94124 | | | | ORPHA | 1 | | 208 | 18884 | 607198 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | TDP1 CL E G H | 55775 | 94124 | | | | ORPHA | 1 | | 208 | 18884 | 607198 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | TDP1 CL E G H | 55775 | 94124 | | | | ORPHA | 1 | | 208 | 18884 | 607198 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | TDP1 CL E G H | 55775 | 607250 | Spinocerebellar ataxia autosomal recessive with axonal neuropathy | 607250 | C1846574 | OMIM | 1 | | 208 | 18884 | 607198 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | TDP1 CL E G H | 55775 | 607250 | Spinocerebellar ataxia autosomal recessive with axonal neuropathy | 607250 | C1846574 | OMIM | 1 | | 208 | 18884 | 607198 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | TDP1 CL E G H | 55775 | 607250 | Spinocerebellar ataxia autosomal recessive with axonal neuropathy | 607250 | C1846574 | OMIM | 1 | | 208 | 18884 | 607198 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | TDP1 CL E G H | 55775 | 607250 | Spinocerebellar ataxia autosomal recessive with axonal neuropathy | 607250 | C1846574 | OMIM | 1 | | 208 | 18884 | 607198 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 190 | 11802 | 603518 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 190 | 11802 | 603518 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 190 | 11802 | 603518 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 190 | 11802 | 603518 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | TRPV4 CL E G H | 59341 | 1216 | | | | ORPHA | 1 | | 891 | 18083 | 605427 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | TRPV4 CL E G H | 59341 | 1216 | | | | ORPHA | 1 | | 891 | 18083 | 605427 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | TRPV4 CL E G H | 59341 | 1216 | | | | ORPHA | 1 | | 891 | 18083 | 605427 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | TRPV4 CL E G H | 59341 | 1216 | | | | ORPHA | 1 | | 891 | 18083 | 605427 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 803 | 3148 | 131222 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 803 | 3148 | 131222 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 803 | 3148 | 131222 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 803 | 3148 | 131222 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 473 | 12666 | 601023 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 473 | 12666 | 601023 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 473 | 12666 | 601023 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 473 | 12666 | 601023 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | | | 12840 | 603623 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ZC4H2 CL E G H | 55906 | 3454 | | | | ORPHA | 1 | | 237 | 24931 | 300897 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ZC4H2 CL E G H | 55906 | 3454 | | | | ORPHA | 1 | | 237 | 24931 | 300897 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ZC4H2 CL E G H | 55906 | 3454 | | | | ORPHA | 1 | | 237 | 24931 | 300897 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ZC4H2 CL E G H | 55906 | 3454 | | | | ORPHA | 1 | | 237 | 24931 | 300897 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0003693 | HP:0007149 | Distal upper limb amyotrophy | 1 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HP:0003693 | HP:0007181 | Interosseus muscle atrophy | 1 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HP:0003693 | HP:0008955 | Progressive distal muscular atrophy | 1 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HP:0003693 | HP:0008944 | Distal lower limb amyotrophy | 1 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1774 | 321 | 610860 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1774 | 321 | 610860 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1774 | 321 | 610860 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 97 | 483 | 105850 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 97 | 483 | 105850 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 97 | 483 | 105850 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | CCT5 CL E G H | 22948 | 256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | 256840 | C1850395 | OMIM | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | CCT5 CL E G H | 22948 | 256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | 256840 | C1850395 | OMIM | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | CCT5 CL E G H | 22948 | 256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | 256840 | C1850395 | OMIM | 1 | | 314 | 1618 | 610150 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | DYSF CL E G H | 8291 | 606768 | Myopathy, distal, with anterior tibial onset | 606768 | C1847532 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0003693 | HP:0011399 | Tibialis atrophy | 2 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0003693 | HP:0009130 | Hand muscle atrophy | 2 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 783 | 23657 | 603824 |
HP:0003693 | HP:0003426 | First dorsal interossei muscle atrophy | 2 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy |