Human Phenotype Ontology 
Grandparent Node:
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Abnormality of muscle size (HP:0030236)help
Grandparent Node:
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obsolete Abnormality of skeletal muscles (HP:0040290)help
Parent Node:
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Skeletal muscle atrophy (HP:0003202)help
..Starting node
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Distal amyotrophy (HP:0003693)help
Term ID: 3693
Name: Distal amyotrophy
Synonym: Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal
Definition: Muscular atrophy affecting muscles in the distal portions of the extremities.
Comments:
Reference: HP:0003693
Genes and Diseases:
 
       Child Nodes:
........expandDistal upper limb amyotrophy (HP:0007149) help
................... HP:0009130 Hand muscle atrophy
........expandInterosseus muscle atrophy (HP:0007181) help
................... HP:0003426 First dorsal interossei muscle atrophy
........expandDistal lower limb amyotrophy (HP:0008944) help
................... HP:0011399 Tibialis atrophy
........expandProgressive distal muscular atrophy (HP:0008955) help

 Sister Nodes: 
..expandGeneralized amyotrophy (HP:0003700) help
..expandLimb-girdle muscle atrophy (HP:0003797) help
..expandLower limb amyotrophy (HP:0007210) help
..expandNonprogressive muscular atrophy (HP:0008964) help
..expandPectoralis amyotrophy (HP:0012037) help
..expandPeroneal muscle atrophy (HP:0009049) help
..expandProximal amyotrophy (HP:0007126) help
..expandScapuloperoneal amyotrophy (HP:0003697) help
..expandSpinal muscular atrophy (HP:0007269) help
..expandSternocleidomastoid amyotrophy (HP:0012036) help
..expandUpper limb amyotrophy (HP:0009129) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003693HP:0003693Distal amyotrophy0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0003693HP:0003693Distal amyotrophy0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0003693HP:0003693Distal amyotrophy0ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0003693HP:0003693Distal amyotrophy0AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0003693HP:0003693Distal amyotrophy0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11774321610860
HP:0003693HP:0003693Distal amyotrophy0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0003693HP:0003693Distal amyotrophy0ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0003693HP:0003693Distal amyotrophy0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003693HP:0003693Distal amyotrophy0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0003693HP:0003693Distal amyotrophy0ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003693HP:0003693Distal amyotrophy0ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0003693HP:0003693Distal amyotrophy0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003693HP:0003693Distal amyotrophy0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0003693HP:0003693Distal amyotrophy0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0003693HP:0003693Distal amyotrophy0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0003693HP:0003693Distal amyotrophy0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM143515832606158
HP:0003693HP:0003693Distal amyotrophy0C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0003693HP:0003693Distal amyotrophy0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0003693HP:0003693Distal amyotrophy0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0003693HP:0003693Distal amyotrophy0CCT5 CL E G H22948139578ORPHA13141618610150
HP:0003693HP:0003693Distal amyotrophy0CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13141618610150
HP:0003693HP:0003693Distal amyotrophy0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0003693HP:0003693Distal amyotrophy0DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0003693HP:0003693Distal amyotrophy0DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003693HP:0003693Distal amyotrophy0DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0003693HP:0003693Distal amyotrophy0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0003693HP:0003693Distal amyotrophy0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003693HP:0003693Distal amyotrophy0DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM127363097603009
HP:0003693HP:0003693Distal amyotrophy0EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13183239129010
HP:0003693HP:0003693Distal amyotrophy0EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0003693HP:0003693Distal amyotrophy0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0003693HP:0003693Distal amyotrophy0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003693HP:0003693Distal amyotrophy0GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0003693HP:0003693Distal amyotrophy0GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0003693HP:0003693Distal amyotrophy0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0003693HP:0003693Distal amyotrophy0GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM178323657603824
HP:0003693HP:0003693Distal amyotrophy0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0003693HP:0003693Distal amyotrophy0HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0003693HP:0003693Distal amyotrophy0IBA57 CL E G H200205468661ORPHA117827302615316
HP:0003693HP:0003693Distal amyotrophy0IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19965542600502
HP:0003693HP:0003693Distal amyotrophy0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003693HP:0003693Distal amyotrophy0KIF1A CL E G H547101010ORPHA12132888601255
HP:0003693HP:0003693Distal amyotrophy0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0003693HP:0003693Distal amyotrophy0KIF1C CL E G H10749397946ORPHA13666317603060
HP:0003693HP:0003693Distal amyotrophy0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13666317603060
HP:0003693HP:0003693Distal amyotrophy0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0003693HP:0003693Distal amyotrophy0LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM127016841603795
HP:0003693HP:0003693Distal amyotrophy0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003693HP:0003693Distal amyotrophy0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM170725135610933
HP:0003693HP:0003693Distal amyotrophy0MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0003693HP:0003693Distal amyotrophy0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0003693HP:0003693Distal amyotrophy0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003693HP:0003693Distal amyotrophy0MME CL E G H4311497764ORPHA14227154120520
HP:0003693HP:0003693Distal amyotrophy0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H43593115ORPHA15577225159440
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM15577225159440
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15577225159440
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15577225159440
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15577225159440
HP:0003693HP:0003693Distal amyotrophy0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM117297230600814
HP:0003693HP:0003693Distal amyotrophy0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM18529678617619
HP:0003693HP:0003693Distal amyotrophy0MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003693HP:0003693Distal amyotrophy0MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0003693HP:0003693Distal amyotrophy0MYOT CL E G H949998911ORPHA129512399604103
HP:0003693HP:0003693Distal amyotrophy0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003693HP:0003693Distal amyotrophy0NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM16427679605262
HP:0003693HP:0003693Distal amyotrophy0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11797693603834
HP:0003693HP:0003693Distal amyotrophy0NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM15437739162280
HP:0003693HP:0003693Distal amyotrophy0NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM15437739162280
HP:0003693HP:0003693Distal amyotrophy0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H53763115ORPHA14539118601097
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14539118601097
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14539118601097
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14539118601097
HP:0003693HP:0003693Distal amyotrophy0PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM194316268603197
HP:0003693HP:0003693Distal amyotrophy0PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM194316268603197
HP:0003693HP:0003693Distal amyotrophy0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0003693HP:0003693Distal amyotrophy0PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM13609462311850
HP:0003693HP:0003693Distal amyotrophy0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0003693HP:0003693Distal amyotrophy0RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11769788602298
HP:0003693HP:0003693Distal amyotrophy0REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM137725786609139
HP:0003693HP:0003693Distal amyotrophy0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1250610519604490
HP:0003693HP:0003693Distal amyotrophy0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM112262135607697
HP:0003693HP:0003693Distal amyotrophy0SDHA CL E G H63893208ORPHA1218610680600857
HP:0003693HP:0003693Distal amyotrophy0SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003693HP:0003693Distal amyotrophy0SDHB CL E G H63903208ORPHA1109910681185470
HP:0003693HP:0003693Distal amyotrophy0SDHD CL E G H63923208ORPHA160710683602690
HP:0003693HP:0003693Distal amyotrophy0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0003693HP:0003693Distal amyotrophy0SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12068157601978
HP:0003693HP:0003693Distal amyotrophy0SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM137514025608761
HP:0003693HP:0003693Distal amyotrophy0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0003693HP:0003693Distal amyotrophy0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM127418514607111
HP:0003693HP:0003693Distal amyotrophy0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1216511226610844
HP:0003693HP:0003693Distal amyotrophy0SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0003693HP:0003693Distal amyotrophy0TBCE CL E G H6905496756ORPHA135711582604934
HP:0003693HP:0003693Distal amyotrophy0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM135711582604934
HP:0003693HP:0003693Distal amyotrophy0TDP1 CL E G H5577594124ORPHA120818884607198
HP:0003693HP:0003693Distal amyotrophy0TDP1 CL E G H55775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathy607250C1846574OMIM120818884607198
HP:0003693HP:0003693Distal amyotrophy0TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM119011802603518
HP:0003693HP:0003693Distal amyotrophy0TRPV4 CL E G H593411216ORPHA189118083605427
HP:0003693HP:0003693Distal amyotrophy0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM189118083605427
HP:0003693HP:0003693Distal amyotrophy0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0003693HP:0003693Distal amyotrophy0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM147312666601023
HP:0003693HP:0003693Distal amyotrophy0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0003693HP:0003693Distal amyotrophy0YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0003693HP:0003693Distal amyotrophy0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM116813503606025
HP:0003693HP:0003693Distal amyotrophy0ZC4H2 CL E G H559063454ORPHA123724931300897
HP:0003693HP:0003693Distal amyotrophy0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0003693HP:0003693Distal amyotrophy0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1189420761612012
HP:0003693HP:0008955Progressive distal muscular atrophy1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0003693HP:0008944Distal lower limb amyotrophy1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0003693HP:0007149Distal upper limb amyotrophy1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0003693HP:0007181Interosseus muscle atrophy1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0003693HP:0007181Interosseus muscle atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0003693HP:0008944Distal lower limb amyotrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0003693HP:0008955Progressive distal muscular atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0003693HP:0007149Distal upper limb amyotrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0003693HP:0007149Distal upper limb amyotrophy1ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0003693HP:0007181Interosseus muscle atrophy1ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0003693HP:0008955Progressive distal muscular atrophy1ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0003693HP:0008944Distal lower limb amyotrophy1ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0003693HP:0007149Distal upper limb amyotrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0003693HP:0007181Interosseus muscle atrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0003693HP:0008944Distal lower limb amyotrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0003693HP:0008955Progressive distal muscular atrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0003693HP:0008944Distal lower limb amyotrophy1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11774321610860
HP:0003693HP:0008955Progressive distal muscular atrophy1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11774321610860
HP:0003693HP:0007149Distal upper limb amyotrophy1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11774321610860
HP:0003693HP:0007181Interosseus muscle atrophy1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11774321610860
HP:0003693HP:0007149Distal upper limb amyotrophy1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0003693HP:0007181Interosseus muscle atrophy1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0003693HP:0008944Distal lower limb amyotrophy1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0003693HP:0008955Progressive distal muscular atrophy1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0003693HP:0007181Interosseus muscle atrophy1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0003693HP:0008944Distal lower limb amyotrophy1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0003693HP:0008955Progressive distal muscular atrophy1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0003693HP:0007149Distal upper limb amyotrophy1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0003693HP:0007149Distal upper limb amyotrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003693HP:0007181Interosseus muscle atrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003693HP:0008944Distal lower limb amyotrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003693HP:0008955Progressive distal muscular atrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003693HP:0008944Distal lower limb amyotrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0003693HP:0008955Progressive distal muscular atrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0003693HP:0007149Distal upper limb amyotrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0003693HP:0007181Interosseus muscle atrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0003693HP:0008944Distal lower limb amyotrophy1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003693HP:0008955Progressive distal muscular atrophy1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003693HP:0007149Distal upper limb amyotrophy1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003693HP:0007181Interosseus muscle atrophy1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003693HP:0008944Distal lower limb amyotrophy1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0003693HP:0008955Progressive distal muscular atrophy1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0003693HP:0007149Distal upper limb amyotrophy1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0003693HP:0007181Interosseus muscle atrophy1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0003693HP:0008944Distal lower limb amyotrophy1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003693HP:0008955Progressive distal muscular atrophy1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003693HP:0007149Distal upper limb amyotrophy1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003693HP:0007181Interosseus muscle atrophy1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003693HP:0008955Progressive distal muscular atrophy1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0003693HP:0008944Distal lower limb amyotrophy1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0003693HP:0007149Distal upper limb amyotrophy1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0003693HP:0007181Interosseus muscle atrophy1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0003693HP:0008944Distal lower limb amyotrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0003693HP:0008955Progressive distal muscular atrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0003693HP:0007149Distal upper limb amyotrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0003693HP:0007181Interosseus muscle atrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0003693HP:0008944Distal lower limb amyotrophy1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0003693HP:0008955Progressive distal muscular atrophy1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0003693HP:0007149Distal upper limb amyotrophy1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0003693HP:0007181Interosseus muscle atrophy1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0003693HP:0007149Distal upper limb amyotrophy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM143515832606158
HP:0003693HP:0007181Interosseus muscle atrophy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM143515832606158
HP:0003693HP:0008944Distal lower limb amyotrophy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM143515832606158
HP:0003693HP:0008955Progressive distal muscular atrophy1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM143515832606158
HP:0003693HP:0008944Distal lower limb amyotrophy1C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0003693HP:0008955Progressive distal muscular atrophy1C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0003693HP:0007149Distal upper limb amyotrophy1C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0003693HP:0007181Interosseus muscle atrophy1C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0003693HP:0007181Interosseus muscle atrophy1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0003693HP:0008944Distal lower limb amyotrophy1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0003693HP:0008955Progressive distal muscular atrophy1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0003693HP:0007149Distal upper limb amyotrophy1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0003693HP:0008944Distal lower limb amyotrophy1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0003693HP:0008955Progressive distal muscular atrophy1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0003693HP:0007149Distal upper limb amyotrophy1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0003693HP:0007181Interosseus muscle atrophy1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0003693HP:0008944Distal lower limb amyotrophy1CCT5 CL E G H22948139578ORPHA13141618610150
HP:0003693HP:0008955Progressive distal muscular atrophy1CCT5 CL E G H22948139578ORPHA13141618610150
HP:0003693HP:0007149Distal upper limb amyotrophy1CCT5 CL E G H22948139578ORPHA13141618610150
HP:0003693HP:0007181Interosseus muscle atrophy1CCT5 CL E G H22948139578ORPHA13141618610150
HP:0003693HP:0007149Distal upper limb amyotrophy1CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13141618610150
HP:0003693HP:0007181Interosseus muscle atrophy1CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13141618610150
HP:0003693HP:0008944Distal lower limb amyotrophy1CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13141618610150
HP:0003693HP:0008955Progressive distal muscular atrophy1CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13141618610150
HP:0003693HP:0007181Interosseus muscle atrophy1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0003693HP:0008944Distal lower limb amyotrophy1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0003693HP:0008955Progressive distal muscular atrophy1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0003693HP:0007149Distal upper limb amyotrophy1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0003693HP:0008955Progressive distal muscular atrophy1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0003693HP:0008944Distal lower limb amyotrophy1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0003693HP:0007149Distal upper limb amyotrophy1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0003693HP:0007181Interosseus muscle atrophy1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0003693HP:0007181Interosseus muscle atrophy1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003693HP:0008944Distal lower limb amyotrophy1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003693HP:0008955Progressive distal muscular atrophy1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003693HP:0007149Distal upper limb amyotrophy1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003693HP:0008944Distal lower limb amyotrophy1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0003693HP:0008955Progressive distal muscular atrophy1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0003693HP:0007149Distal upper limb amyotrophy1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0003693HP:0007181Interosseus muscle atrophy1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0003693HP:0008944Distal lower limb amyotrophy1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0003693HP:0008955Progressive distal muscular atrophy1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0003693HP:0007149Distal upper limb amyotrophy1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0003693HP:0007181Interosseus muscle atrophy1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0003693HP:0007149Distal upper limb amyotrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003693HP:0007181Interosseus muscle atrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003693HP:0008944Distal lower limb amyotrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003693HP:0008955Progressive distal muscular atrophy1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003693HP:0008944Distal lower limb amyotrophy1DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM127363097603009
HP:0003693HP:0008955Progressive distal muscular atrophy1DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM127363097603009
HP:0003693HP:0007149Distal upper limb amyotrophy1DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM127363097603009
HP:0003693HP:0007181Interosseus muscle atrophy1DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM127363097603009
HP:0003693HP:0007181Interosseus muscle atrophy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13183239129010
HP:0003693HP:0008955Progressive distal muscular atrophy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13183239129010
HP:0003693HP:0008944Distal lower limb amyotrophy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13183239129010
HP:0003693HP:0007149Distal upper limb amyotrophy1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13183239129010
HP:0003693HP:0008955Progressive distal muscular atrophy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0003693HP:0008944Distal lower limb amyotrophy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0003693HP:0007149Distal upper limb amyotrophy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0003693HP:0007181Interosseus muscle atrophy1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0003693HP:0007149Distal upper limb amyotrophy1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0003693HP:0007181Interosseus muscle atrophy1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0003693HP:0008944Distal lower limb amyotrophy1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0003693HP:0008955Progressive distal muscular atrophy1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0003693HP:0008944Distal lower limb amyotrophy1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003693HP:0008955Progressive distal muscular atrophy1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003693HP:0007149Distal upper limb amyotrophy1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003693HP:0007181Interosseus muscle atrophy1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003693HP:0008955Progressive distal muscular atrophy1GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0003693HP:0008944Distal lower limb amyotrophy1GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0003693HP:0007149Distal upper limb amyotrophy1GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0003693HP:0007181Interosseus muscle atrophy1GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0003693HP:0008944Distal lower limb amyotrophy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0003693HP:0008955Progressive distal muscular atrophy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0003693HP:0007149Distal upper limb amyotrophy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0003693HP:0007181Interosseus muscle atrophy1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0003693HP:0007181Interosseus muscle atrophy1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003693HP:0008944Distal lower limb amyotrophy1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003693HP:0008955Progressive distal muscular atrophy1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003693HP:0007149Distal upper limb amyotrophy1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003693HP:0007181Interosseus muscle atrophy1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0003693HP:0008955Progressive distal muscular atrophy1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0003693HP:0008944Distal lower limb amyotrophy1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0003693HP:0007149Distal upper limb amyotrophy1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0003693HP:0008944Distal lower limb amyotrophy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0003693HP:0008955Progressive distal muscular atrophy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0003693HP:0007149Distal upper limb amyotrophy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0003693HP:0007181Interosseus muscle atrophy1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0003693HP:0008944Distal lower limb amyotrophy1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0003693HP:0008955Progressive distal muscular atrophy1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0003693HP:0007149Distal upper limb amyotrophy1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0003693HP:0007181Interosseus muscle atrophy1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0003693HP:0007149Distal upper limb amyotrophy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0003693HP:0007181Interosseus muscle atrophy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0003693HP:0008944Distal lower limb amyotrophy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0003693HP:0008955Progressive distal muscular atrophy1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0003693HP:0008955Progressive distal muscular atrophy1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM178323657603824
HP:0003693HP:0008944Distal lower limb amyotrophy1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM178323657603824
HP:0003693HP:0007149Distal upper limb amyotrophy1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM178323657603824
HP:0003693HP:0007181Interosseus muscle atrophy1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM178323657603824
HP:0003693HP:0007181Interosseus muscle atrophy1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0003693HP:0008944Distal lower limb amyotrophy1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0003693HP:0008955Progressive distal muscular atrophy1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0003693HP:0007149Distal upper limb amyotrophy1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0003693HP:0007181Interosseus muscle atrophy1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0003693HP:0008944Distal lower limb amyotrophy1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0003693HP:0008955Progressive distal muscular atrophy1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0003693HP:0007149Distal upper limb amyotrophy1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0003693HP:0007149Distal upper limb amyotrophy1IBA57 CL E G H200205468661ORPHA117827302615316
HP:0003693HP:0007181Interosseus muscle atrophy1IBA57 CL E G H200205468661ORPHA117827302615316
HP:0003693HP:0008944Distal lower limb amyotrophy1IBA57 CL E G H200205468661ORPHA117827302615316
HP:0003693HP:0008955Progressive distal muscular atrophy1IBA57 CL E G H200205468661ORPHA117827302615316
HP:0003693HP:0008944Distal lower limb amyotrophy1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19965542600502
HP:0003693HP:0008955Progressive distal muscular atrophy1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19965542600502
HP:0003693HP:0007149Distal upper limb amyotrophy1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19965542600502
HP:0003693HP:0007181Interosseus muscle atrophy1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19965542600502
HP:0003693HP:0008944Distal lower limb amyotrophy1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003693HP:0008955Progressive distal muscular atrophy1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003693HP:0007149Distal upper limb amyotrophy1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003693HP:0007181Interosseus muscle atrophy1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003693HP:0007149Distal upper limb amyotrophy1KIF1A CL E G H547101010ORPHA12132888601255
HP:0003693HP:0007181Interosseus muscle atrophy1KIF1A CL E G H547101010ORPHA12132888601255
HP:0003693HP:0008944Distal lower limb amyotrophy1KIF1A CL E G H547101010ORPHA12132888601255
HP:0003693HP:0008955Progressive distal muscular atrophy1KIF1A CL E G H547101010ORPHA12132888601255
HP:0003693HP:0008944Distal lower limb amyotrophy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0003693HP:0008955Progressive distal muscular atrophy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0003693HP:0007149Distal upper limb amyotrophy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0003693HP:0007181Interosseus muscle atrophy1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0003693HP:0008944Distal lower limb amyotrophy1KIF1C CL E G H10749397946ORPHA13666317603060
HP:0003693HP:0008955Progressive distal muscular atrophy1KIF1C CL E G H10749397946ORPHA13666317603060
HP:0003693HP:0007149Distal upper limb amyotrophy1KIF1C CL E G H10749397946ORPHA13666317603060
HP:0003693HP:0007181Interosseus muscle atrophy1KIF1C CL E G H10749397946ORPHA13666317603060
HP:0003693HP:0008955Progressive distal muscular atrophy1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13666317603060
HP:0003693HP:0008944Distal lower limb amyotrophy1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13666317603060
HP:0003693HP:0007149Distal upper limb amyotrophy1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13666317603060
HP:0003693HP:0007181Interosseus muscle atrophy1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13666317603060
HP:0003693HP:0007181Interosseus muscle atrophy1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0003693HP:0008944Distal lower limb amyotrophy1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0003693HP:0008955Progressive distal muscular atrophy1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0003693HP:0007149Distal upper limb amyotrophy1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0003693HP:0008955Progressive distal muscular atrophy1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM127016841603795
HP:0003693HP:0008944Distal lower limb amyotrophy1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM127016841603795
HP:0003693HP:0007149Distal upper limb amyotrophy1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM127016841603795
HP:0003693HP:0007181Interosseus muscle atrophy1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM127016841603795
HP:0003693HP:0007181Interosseus muscle atrophy1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003693HP:0008944Distal lower limb amyotrophy1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003693HP:0008955Progressive distal muscular atrophy1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003693HP:0007149Distal upper limb amyotrophy1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003693HP:0007181Interosseus muscle atrophy1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM170725135610933
HP:0003693HP:0008944Distal lower limb amyotrophy1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM170725135610933
HP:0003693HP:0008955Progressive distal muscular atrophy1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM170725135610933
HP:0003693HP:0007149Distal upper limb amyotrophy1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM170725135610933
HP:0003693HP:0008955Progressive distal muscular atrophy1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0003693HP:0008944Distal lower limb amyotrophy1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0003693HP:0007149Distal upper limb amyotrophy1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0003693HP:0007181Interosseus muscle atrophy1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0003693HP:0008955Progressive distal muscular atrophy1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0003693HP:0008944Distal lower limb amyotrophy1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0003693HP:0007149Distal upper limb amyotrophy1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0003693HP:0007181Interosseus muscle atrophy1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0003693HP:0007149Distal upper limb amyotrophy1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003693HP:0007181Interosseus muscle atrophy1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003693HP:0008944Distal lower limb amyotrophy1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003693HP:0008955Progressive distal muscular atrophy1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003693HP:0007149Distal upper limb amyotrophy1MME CL E G H4311497764ORPHA14227154120520
HP:0003693HP:0007181Interosseus muscle atrophy1MME CL E G H4311497764ORPHA14227154120520
HP:0003693HP:0008944Distal lower limb amyotrophy1MME CL E G H4311497764ORPHA14227154120520
HP:0003693HP:0008955Progressive distal muscular atrophy1MME CL E G H4311497764ORPHA14227154120520
HP:0003693HP:0008944Distal lower limb amyotrophy1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0003693HP:0008955Progressive distal muscular atrophy1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0003693HP:0007149Distal upper limb amyotrophy1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0003693HP:0007181Interosseus muscle atrophy1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0003693HP:0007149Distal upper limb amyotrophy1MPZ CL E G H43593115ORPHA15577225159440
HP:0003693HP:0007181Interosseus muscle atrophy1MPZ CL E G H43593115ORPHA15577225159440
HP:0003693HP:0008944Distal lower limb amyotrophy1MPZ CL E G H43593115ORPHA15577225159440
HP:0003693HP:0008955Progressive distal muscular atrophy1MPZ CL E G H43593115ORPHA15577225159440
HP:0003693HP:0008944Distal lower limb amyotrophy1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM15577225159440
HP:0003693HP:0008955Progressive distal muscular atrophy1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM15577225159440
HP:0003693HP:0007149Distal upper limb amyotrophy1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM15577225159440
HP:0003693HP:0007181Interosseus muscle atrophy1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM15577225159440
HP:0003693HP:0008944Distal lower limb amyotrophy1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15577225159440
HP:0003693HP:0008955Progressive distal muscular atrophy1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15577225159440
HP:0003693HP:0007149Distal upper limb amyotrophy1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15577225159440
HP:0003693HP:0007181Interosseus muscle atrophy1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15577225159440
HP:0003693HP:0007181Interosseus muscle atrophy1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0003693HP:0008955Progressive distal muscular atrophy1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0003693HP:0008944Distal lower limb amyotrophy1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0003693HP:0007149Distal upper limb amyotrophy1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0003693HP:0007149Distal upper limb amyotrophy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15577225159440
HP:0003693HP:0007181Interosseus muscle atrophy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15577225159440
HP:0003693HP:0008955Progressive distal muscular atrophy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15577225159440
HP:0003693HP:0008944Distal lower limb amyotrophy1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15577225159440
HP:0003693HP:0008944Distal lower limb amyotrophy1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0003693HP:0008955Progressive distal muscular atrophy1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0003693HP:0007149Distal upper limb amyotrophy1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0003693HP:0007181Interosseus muscle atrophy1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0003693HP:0008955Progressive distal muscular atrophy1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15577225159440
HP:0003693HP:0008944Distal lower limb amyotrophy1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15577225159440
HP:0003693HP:0007149Distal upper limb amyotrophy1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15577225159440
HP:0003693HP:0007181Interosseus muscle atrophy1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15577225159440
HP:0003693HP:0007181Interosseus muscle atrophy1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM117297230600814
HP:0003693HP:0008944Distal lower limb amyotrophy1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM117297230600814
HP:0003693HP:0008955Progressive distal muscular atrophy1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM117297230600814
HP:0003693HP:0007149Distal upper limb amyotrophy1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM117297230600814
HP:0003693HP:0007149Distal upper limb amyotrophy1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM18529678617619
HP:0003693HP:0007181Interosseus muscle atrophy1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM18529678617619
HP:0003693HP:0008944Distal lower limb amyotrophy1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM18529678617619
HP:0003693HP:0008955Progressive distal muscular atrophy1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM18529678617619
HP:0003693HP:0008955Progressive distal muscular atrophy1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003693HP:0008944Distal lower limb amyotrophy1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003693HP:0007149Distal upper limb amyotrophy1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003693HP:0007181Interosseus muscle atrophy1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003693HP:0008944Distal lower limb amyotrophy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0003693HP:0008955Progressive distal muscular atrophy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0003693HP:0007149Distal upper limb amyotrophy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0003693HP:0007181Interosseus muscle atrophy1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0003693HP:0007149Distal upper limb amyotrophy1MYOT CL E G H949998911ORPHA129512399604103
HP:0003693HP:0007181Interosseus muscle atrophy1MYOT CL E G H949998911ORPHA129512399604103
HP:0003693HP:0008944Distal lower limb amyotrophy1MYOT CL E G H949998911ORPHA129512399604103
HP:0003693HP:0008955Progressive distal muscular atrophy1MYOT CL E G H949998911ORPHA129512399604103
HP:0003693HP:0007181Interosseus muscle atrophy1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003693HP:0008944Distal lower limb amyotrophy1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003693HP:0008955Progressive distal muscular atrophy1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003693HP:0007149Distal upper limb amyotrophy1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003693HP:0007149Distal upper limb amyotrophy1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM16427679605262
HP:0003693HP:0007181Interosseus muscle atrophy1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM16427679605262
HP:0003693HP:0008944Distal lower limb amyotrophy1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM16427679605262
HP:0003693HP:0008955Progressive distal muscular atrophy1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM16427679605262
HP:0003693HP:0008944Distal lower limb amyotrophy1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11797693603834
HP:0003693HP:0008955Progressive distal muscular atrophy1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11797693603834
HP:0003693HP:0007149Distal upper limb amyotrophy1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11797693603834
HP:0003693HP:0007181Interosseus muscle atrophy1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11797693603834
HP:0003693HP:0008944Distal lower limb amyotrophy1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM15437739162280
HP:0003693HP:0008955Progressive distal muscular atrophy1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM15437739162280
HP:0003693HP:0007149Distal upper limb amyotrophy1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM15437739162280
HP:0003693HP:0007181Interosseus muscle atrophy1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM15437739162280
HP:0003693HP:0008944Distal lower limb amyotrophy1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM15437739162280
HP:0003693HP:0008955Progressive distal muscular atrophy1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM15437739162280
HP:0003693HP:0007149Distal upper limb amyotrophy1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM15437739162280
HP:0003693HP:0007181Interosseus muscle atrophy1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM15437739162280
HP:0003693HP:0007181Interosseus muscle atrophy1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003693HP:0008944Distal lower limb amyotrophy1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003693HP:0008955Progressive distal muscular atrophy1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003693HP:0007149Distal upper limb amyotrophy1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003693HP:0008955Progressive distal muscular atrophy1PMP22 CL E G H53763115ORPHA14539118601097
HP:0003693HP:0008944Distal lower limb amyotrophy1PMP22 CL E G H53763115ORPHA14539118601097
HP:0003693HP:0007149Distal upper limb amyotrophy1PMP22 CL E G H53763115ORPHA14539118601097
HP:0003693HP:0007181Interosseus muscle atrophy1PMP22 CL E G H53763115ORPHA14539118601097
HP:0003693HP:0008944Distal lower limb amyotrophy1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14539118601097
HP:0003693HP:0008955Progressive distal muscular atrophy1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14539118601097
HP:0003693HP:0007149Distal upper limb amyotrophy1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14539118601097
HP:0003693HP:0007181Interosseus muscle atrophy1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14539118601097
HP:0003693HP:0007149Distal upper limb amyotrophy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14539118601097
HP:0003693HP:0007181Interosseus muscle atrophy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14539118601097
HP:0003693HP:0008944Distal lower limb amyotrophy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14539118601097
HP:0003693HP:0008955Progressive distal muscular atrophy1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14539118601097
HP:0003693HP:0007149Distal upper limb amyotrophy1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0003693HP:0007181Interosseus muscle atrophy1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0003693HP:0008944Distal lower limb amyotrophy1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0003693HP:0008955Progressive distal muscular atrophy1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0003693HP:0007149Distal upper limb amyotrophy1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14539118601097
HP:0003693HP:0007181Interosseus muscle atrophy1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14539118601097
HP:0003693HP:0008944Distal lower limb amyotrophy1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14539118601097
HP:0003693HP:0008955Progressive distal muscular atrophy1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14539118601097
HP:0003693HP:0008944Distal lower limb amyotrophy1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM194316268603197
HP:0003693HP:0008955Progressive distal muscular atrophy1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM194316268603197
HP:0003693HP:0007149Distal upper limb amyotrophy1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM194316268603197
HP:0003693HP:0007181Interosseus muscle atrophy1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM194316268603197
HP:0003693HP:0008944Distal lower limb amyotrophy1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM194316268603197
HP:0003693HP:0008955Progressive distal muscular atrophy1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM194316268603197
HP:0003693HP:0007149Distal upper limb amyotrophy1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM194316268603197
HP:0003693HP:0007181Interosseus muscle atrophy1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM194316268603197
HP:0003693HP:0007149Distal upper limb amyotrophy1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0003693HP:0007181Interosseus muscle atrophy1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0003693HP:0008944Distal lower limb amyotrophy1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0003693HP:0008955Progressive distal muscular atrophy1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0003693HP:0008944Distal lower limb amyotrophy1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM13609462311850
HP:0003693HP:0008955Progressive distal muscular atrophy1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM13609462311850
HP:0003693HP:0007149Distal upper limb amyotrophy1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM13609462311850
HP:0003693HP:0007181Interosseus muscle atrophy1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM13609462311850
HP:0003693HP:0008944Distal lower limb amyotrophy1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0003693HP:0008955Progressive distal muscular atrophy1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0003693HP:0007149Distal upper limb amyotrophy1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0003693HP:0007181Interosseus muscle atrophy1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0003693HP:0007149Distal upper limb amyotrophy1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11769788602298
HP:0003693HP:0007181Interosseus muscle atrophy1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11769788602298
HP:0003693HP:0008944Distal lower limb amyotrophy1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11769788602298
HP:0003693HP:0008955Progressive distal muscular atrophy1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11769788602298
HP:0003693HP:0008944Distal lower limb amyotrophy1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM137725786609139
HP:0003693HP:0008955Progressive distal muscular atrophy1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM137725786609139
HP:0003693HP:0007149Distal upper limb amyotrophy1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM137725786609139
HP:0003693HP:0007181Interosseus muscle atrophy1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM137725786609139
HP:0003693HP:0008944Distal lower limb amyotrophy1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1250610519604490
HP:0003693HP:0008955Progressive distal muscular atrophy1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1250610519604490
HP:0003693HP:0007149Distal upper limb amyotrophy1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1250610519604490
HP:0003693HP:0007181Interosseus muscle atrophy1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1250610519604490
HP:0003693HP:0007181Interosseus muscle atrophy1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM112262135607697
HP:0003693HP:0008944Distal lower limb amyotrophy1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM112262135607697
HP:0003693HP:0008955Progressive distal muscular atrophy1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM112262135607697
HP:0003693HP:0007149Distal upper limb amyotrophy1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM112262135607697
HP:0003693HP:0007149Distal upper limb amyotrophy1SDHA CL E G H63893208ORPHA1218610680600857
HP:0003693HP:0007181Interosseus muscle atrophy1SDHA CL E G H63893208ORPHA1218610680600857
HP:0003693HP:0008944Distal lower limb amyotrophy1SDHA CL E G H63893208ORPHA1218610680600857
HP:0003693HP:0008955Progressive distal muscular atrophy1SDHA CL E G H63893208ORPHA1218610680600857
HP:0003693HP:0008955Progressive distal muscular atrophy1SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003693HP:0008944Distal lower limb amyotrophy1SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003693HP:0007149Distal upper limb amyotrophy1SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003693HP:0007181Interosseus muscle atrophy1SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003693HP:0007149Distal upper limb amyotrophy1SDHB CL E G H63903208ORPHA1109910681185470
HP:0003693HP:0007181Interosseus muscle atrophy1SDHB CL E G H63903208ORPHA1109910681185470
HP:0003693HP:0008944Distal lower limb amyotrophy1SDHB CL E G H63903208ORPHA1109910681185470
HP:0003693HP:0008955Progressive distal muscular atrophy1SDHB CL E G H63903208ORPHA1109910681185470
HP:0003693HP:0008955Progressive distal muscular atrophy1SDHD CL E G H63923208ORPHA160710683602690
HP:0003693HP:0008944Distal lower limb amyotrophy1SDHD CL E G H63923208ORPHA160710683602690
HP:0003693HP:0007149Distal upper limb amyotrophy1SDHD CL E G H63923208ORPHA160710683602690
HP:0003693HP:0007181Interosseus muscle atrophy1SDHD CL E G H63923208ORPHA160710683602690
HP:0003693HP:0007149Distal upper limb amyotrophy1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0003693HP:0007181Interosseus muscle atrophy1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0003693HP:0008944Distal lower limb amyotrophy1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0003693HP:0008955Progressive distal muscular atrophy1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0003693HP:0007181Interosseus muscle atrophy1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12068157601978
HP:0003693HP:0008944Distal lower limb amyotrophy1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12068157601978
HP:0003693HP:0008955Progressive distal muscular atrophy1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12068157601978
HP:0003693HP:0007149Distal upper limb amyotrophy1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12068157601978
HP:0003693HP:0007149Distal upper limb amyotrophy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM137514025608761
HP:0003693HP:0007181Interosseus muscle atrophy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM137514025608761
HP:0003693HP:0008944Distal lower limb amyotrophy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM137514025608761
HP:0003693HP:0008955Progressive distal muscular atrophy1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM137514025608761
HP:0003693HP:0007181Interosseus muscle atrophy1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0003693HP:0008944Distal lower limb amyotrophy1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0003693HP:0008955Progressive distal muscular atrophy1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0003693HP:0007149Distal upper limb amyotrophy1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0003693HP:0007149Distal upper limb amyotrophy1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM127418514607111
HP:0003693HP:0007181Interosseus muscle atrophy1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM127418514607111
HP:0003693HP:0008955Progressive distal muscular atrophy1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM127418514607111
HP:0003693HP:0008944Distal lower limb amyotrophy1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM127418514607111
HP:0003693HP:0008944Distal lower limb amyotrophy1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1216511226610844
HP:0003693HP:0008955Progressive distal muscular atrophy1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1216511226610844
HP:0003693HP:0007149Distal upper limb amyotrophy1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1216511226610844
HP:0003693HP:0007181Interosseus muscle atrophy1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1216511226610844
HP:0003693HP:0008944Distal lower limb amyotrophy1SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0003693HP:0008955Progressive distal muscular atrophy1SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0003693HP:0007149Distal upper limb amyotrophy1SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0003693HP:0007181Interosseus muscle atrophy1SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0003693HP:0008955Progressive distal muscular atrophy1TBCE CL E G H6905496756ORPHA135711582604934
HP:0003693HP:0008944Distal lower limb amyotrophy1TBCE CL E G H6905496756ORPHA135711582604934
HP:0003693HP:0007149Distal upper limb amyotrophy1TBCE CL E G H6905496756ORPHA135711582604934
HP:0003693HP:0007181Interosseus muscle atrophy1TBCE CL E G H6905496756ORPHA135711582604934
HP:0003693HP:0007149Distal upper limb amyotrophy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM135711582604934
HP:0003693HP:0007181Interosseus muscle atrophy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM135711582604934
HP:0003693HP:0008944Distal lower limb amyotrophy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM135711582604934
HP:0003693HP:0008955Progressive distal muscular atrophy1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM135711582604934
HP:0003693HP:0008944Distal lower limb amyotrophy1TDP1 CL E G H5577594124ORPHA120818884607198
HP:0003693HP:0008955Progressive distal muscular atrophy1TDP1 CL E G H5577594124ORPHA120818884607198
HP:0003693HP:0007149Distal upper limb amyotrophy1TDP1 CL E G H5577594124ORPHA120818884607198
HP:0003693HP:0007181Interosseus muscle atrophy1TDP1 CL E G H5577594124ORPHA120818884607198
HP:0003693HP:0007181Interosseus muscle atrophy1TDP1 CL E G H55775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathy607250C1846574OMIM120818884607198
HP:0003693HP:0008944Distal lower limb amyotrophy1TDP1 CL E G H55775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathy607250C1846574OMIM120818884607198
HP:0003693HP:0008955Progressive distal muscular atrophy1TDP1 CL E G H55775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathy607250C1846574OMIM120818884607198
HP:0003693HP:0007149Distal upper limb amyotrophy1TDP1 CL E G H55775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathy607250C1846574OMIM120818884607198
HP:0003693HP:0008944Distal lower limb amyotrophy1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM119011802603518
HP:0003693HP:0008955Progressive distal muscular atrophy1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM119011802603518
HP:0003693HP:0007149Distal upper limb amyotrophy1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM119011802603518
HP:0003693HP:0007181Interosseus muscle atrophy1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM119011802603518
HP:0003693HP:0008944Distal lower limb amyotrophy1TRPV4 CL E G H593411216ORPHA189118083605427
HP:0003693HP:0008955Progressive distal muscular atrophy1TRPV4 CL E G H593411216ORPHA189118083605427
HP:0003693HP:0007149Distal upper limb amyotrophy1TRPV4 CL E G H593411216ORPHA189118083605427
HP:0003693HP:0007181Interosseus muscle atrophy1TRPV4 CL E G H593411216ORPHA189118083605427
HP:0003693HP:0008944Distal lower limb amyotrophy1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM189118083605427
HP:0003693HP:0008955Progressive distal muscular atrophy1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM189118083605427
HP:0003693HP:0007149Distal upper limb amyotrophy1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM189118083605427
HP:0003693HP:0007181Interosseus muscle atrophy1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM189118083605427
HP:0003693HP:0008944Distal lower limb amyotrophy1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0003693HP:0008955Progressive distal muscular atrophy1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0003693HP:0007149Distal upper limb amyotrophy1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0003693HP:0007181Interosseus muscle atrophy1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0003693HP:0007149Distal upper limb amyotrophy1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM147312666601023
HP:0003693HP:0007181Interosseus muscle atrophy1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM147312666601023
HP:0003693HP:0008944Distal lower limb amyotrophy1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM147312666601023
HP:0003693HP:0008955Progressive distal muscular atrophy1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM147312666601023
HP:0003693HP:0008944Distal lower limb amyotrophy1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0003693HP:0008955Progressive distal muscular atrophy1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0003693HP:0007149Distal upper limb amyotrophy1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0003693HP:0007181Interosseus muscle atrophy1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0003693HP:0007181Interosseus muscle atrophy1YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0003693HP:0008944Distal lower limb amyotrophy1YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0003693HP:0008955Progressive distal muscular atrophy1YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0003693HP:0007149Distal upper limb amyotrophy1YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0003693HP:0007149Distal upper limb amyotrophy1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM116813503606025
HP:0003693HP:0007181Interosseus muscle atrophy1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM116813503606025
HP:0003693HP:0008955Progressive distal muscular atrophy1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM116813503606025
HP:0003693HP:0008944Distal lower limb amyotrophy1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM116813503606025
HP:0003693HP:0007149Distal upper limb amyotrophy1ZC4H2 CL E G H559063454ORPHA123724931300897
HP:0003693HP:0007181Interosseus muscle atrophy1ZC4H2 CL E G H559063454ORPHA123724931300897
HP:0003693HP:0008944Distal lower limb amyotrophy1ZC4H2 CL E G H559063454ORPHA123724931300897
HP:0003693HP:0008955Progressive distal muscular atrophy1ZC4H2 CL E G H559063454ORPHA123724931300897
HP:0003693HP:0007149Distal upper limb amyotrophy1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0003693HP:0007181Interosseus muscle atrophy1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0003693HP:0008944Distal lower limb amyotrophy1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0003693HP:0008955Progressive distal muscular atrophy1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0003693HP:0007149Distal upper limb amyotrophy1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1189420761612012
HP:0003693HP:0007181Interosseus muscle atrophy1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1189420761612012
HP:0003693HP:0008955Progressive distal muscular atrophy1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1189420761612012
HP:0003693HP:0008944Distal lower limb amyotrophy1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1189420761612012
HP:0003693HP:0011399Tibialis atrophy2ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0003693HP:0009130Hand muscle atrophy2ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0003693HP:0011399Tibialis atrophy2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0003693HP:0009130Hand muscle atrophy2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0003693HP:0011399Tibialis atrophy2ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0003693HP:0009130Hand muscle atrophy2ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0003693HP:0003426First dorsal interossei muscle atrophy2AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0003693HP:0011399Tibialis atrophy2AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0003693HP:0009130Hand muscle atrophy2AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0003693HP:0011399Tibialis atrophy2AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11774321610860
HP:0003693HP:0009130Hand muscle atrophy2AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11774321610860
HP:0003693HP:0003426First dorsal interossei muscle atrophy2AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11774321610860
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0003693HP:0011399Tibialis atrophy2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0003693HP:0009130Hand muscle atrophy2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0003693HP:0011399Tibialis atrophy2ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0003693HP:0009130Hand muscle atrophy2ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0003693HP:0003426First dorsal interossei muscle atrophy2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003693HP:0011399Tibialis atrophy2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003693HP:0009130Hand muscle atrophy2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003693HP:0011399Tibialis atrophy2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0003693HP:0009130Hand muscle atrophy2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0003693HP:0009130Hand muscle atrophy2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003693HP:0011399Tibialis atrophy2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003693HP:0011399Tibialis atrophy2ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0003693HP:0009130Hand muscle atrophy2ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0003693HP:0011399Tibialis atrophy2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003693HP:0009130Hand muscle atrophy2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003693HP:0011399Tibialis atrophy2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0003693HP:0009130Hand muscle atrophy2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0003693HP:0011399Tibialis atrophy2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0003693HP:0009130Hand muscle atrophy2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0003693HP:0003426First dorsal interossei muscle atrophy2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0003693HP:0009130Hand muscle atrophy2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0003693HP:0003426First dorsal interossei muscle atrophy2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0003693HP:0011399Tibialis atrophy2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0003693HP:0003426First dorsal interossei muscle atrophy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM143515832606158
HP:0003693HP:0011399Tibialis atrophy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM143515832606158
HP:0003693HP:0009130Hand muscle atrophy2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM143515832606158
HP:0003693HP:0011399Tibialis atrophy2C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0003693HP:0009130Hand muscle atrophy2C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0003693HP:0003426First dorsal interossei muscle atrophy2C19orf12 CL E G H83636320370ORPHA127625443614297
HP:0003693HP:0011399Tibialis atrophy2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0003693HP:0009130Hand muscle atrophy2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0003693HP:0003426First dorsal interossei muscle atrophy2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0003693HP:0009130Hand muscle atrophy2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0003693HP:0003426First dorsal interossei muscle atrophy2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0003693HP:0011399Tibialis atrophy2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0003693HP:0011399Tibialis atrophy2CCT5 CL E G H22948139578ORPHA13141618610150
HP:0003693HP:0009130Hand muscle atrophy2CCT5 CL E G H22948139578ORPHA13141618610150
HP:0003693HP:0003426First dorsal interossei muscle atrophy2CCT5 CL E G H22948139578ORPHA13141618610150
HP:0003693HP:0003426First dorsal interossei muscle atrophy2CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13141618610150
HP:0003693HP:0011399Tibialis atrophy2CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13141618610150
HP:0003693HP:0009130Hand muscle atrophy2CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13141618610150
HP:0003693HP:0003426First dorsal interossei muscle atrophy2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0003693HP:0011399Tibialis atrophy2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0003693HP:0009130Hand muscle atrophy2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0003693HP:0009130Hand muscle atrophy2DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0003693HP:0003426First dorsal interossei muscle atrophy2DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0003693HP:0011399Tibialis atrophy2DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0003693HP:0011399Tibialis atrophy2DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003693HP:0009130Hand muscle atrophy2DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003693HP:0003426First dorsal interossei muscle atrophy2DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003693HP:0009130Hand muscle atrophy2DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0003693HP:0003426First dorsal interossei muscle atrophy2DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0003693HP:0011399Tibialis atrophy2DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0003693HP:0011399Tibialis atrophy2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0003693HP:0009130Hand muscle atrophy2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0003693HP:0003426First dorsal interossei muscle atrophy2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0003693HP:0003426First dorsal interossei muscle atrophy2DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003693HP:0011399Tibialis atrophy2DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003693HP:0009130Hand muscle atrophy2DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003693HP:0009130Hand muscle atrophy2DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM127363097603009
HP:0003693HP:0003426First dorsal interossei muscle atrophy2DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM127363097603009
HP:0003693HP:0011399Tibialis atrophy2DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM127363097603009
HP:0003693HP:0011399Tibialis atrophy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13183239129010
HP:0003693HP:0009130Hand muscle atrophy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13183239129010
HP:0003693HP:0003426First dorsal interossei muscle atrophy2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13183239129010
HP:0003693HP:0009130Hand muscle atrophy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0003693HP:0003426First dorsal interossei muscle atrophy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0003693HP:0011399Tibialis atrophy2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0003693HP:0003426First dorsal interossei muscle atrophy2EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0003693HP:0011399Tibialis atrophy2EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0003693HP:0009130Hand muscle atrophy2EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0003693HP:0011399Tibialis atrophy2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003693HP:0009130Hand muscle atrophy2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003693HP:0011399Tibialis atrophy2GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0003693HP:0009130Hand muscle atrophy2GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0003693HP:0011399Tibialis atrophy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0003693HP:0009130Hand muscle atrophy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0003693HP:0011399Tibialis atrophy2GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003693HP:0009130Hand muscle atrophy2GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003693HP:0011399Tibialis atrophy2GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0003693HP:0009130Hand muscle atrophy2GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0003693HP:0009130Hand muscle atrophy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0003693HP:0011399Tibialis atrophy2GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0003693HP:0011399Tibialis atrophy2GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0003693HP:0009130Hand muscle atrophy2GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0003693HP:0011399Tibialis atrophy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0003693HP:0009130Hand muscle atrophy2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0003693HP:0009130Hand muscle atrophy2GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM178323657603824
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GNE CL E G H10020605820Nonaka myopathy</