Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the musculature (HP:0003011)help
Parent Node:
expand
Abnormality of muscle size (HP:0030236)help
Parent Node:
expand
Abnormality of skeletal muscles (HP:0040290)help
..Starting node
..expand
Skeletal muscle atrophy (HP:0003202)help
Term ID: 3202
Name: Skeletal muscle atrophy
Synonym: Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy
Definition: The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Comments:
Reference: HP:0003202
Genes and Diseases:
 
       Child Nodes:
........expandDistal amyotrophy (HP:0003693) help
................... HP:0007149 Distal upper limb amyotrophy
................... HP:0007181 Interosseus muscle atrophy
................... HP:0008944 Distal lower limb amyotrophy
................... HP:0008955 Progressive distal muscular atrophy
........expandScapuloperoneal amyotrophy (HP:0003697) help
........expandGeneralized amyotrophy (HP:0003700) help
................... HP:0009055 Generalized limb muscle atrophy
........expandLimb-girdle muscle atrophy (HP:0003797) help
................... HP:0003724 Shoulder girdle muscle atrophy
................... HP:0006785 Limb-girdle muscular dystrophy
................... HP:0008946 Pelvic girdle amyotrophy
........expandProximal amyotrophy (HP:0007126) help
................... HP:0008948 Proximal upper limb amyotrophy
................... HP:0008956 Proximal lower limb amyotrophy
........expandLower limb amyotrophy (HP:0007210) help
................... HP:0008944 Distal lower limb amyotrophy
........expandSpinal muscular atrophy (HP:0007269) help
................... HP:0006959 Proximal spinal muscular atrophy
................... HP:0007280 Acute infantile spinal muscular atrophy
................... HP:0009037 Segmental spinal muscular atrophy
................... HP:0009067 Progressive spinal muscular atrophy
........expandNonprogressive muscular atrophy (HP:0008964) help
........expandPeroneal muscle atrophy (HP:0009049) help
........expandUpper limb amyotrophy (HP:0009129) help
................... HP:0007149 Distal upper limb amyotrophy
........expandSternocleidomastoid amyotrophy (HP:0012036) help
........expandPectoralis amyotrophy (HP:0012037) help

 Sister Nodes: 
..expandSkeletal muscle fibrosis (HP:0030951) help
..expandSkeletal muscle hypertrophy (HP:0003712) help
..expandSkeletal muscle steatosis (HP:0040291) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003202HP:0003202Skeletal muscle atrophy0AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM12120601065
HP:0003202HP:0003202Skeletal muscle atrophy0ACTA1 CL E G H58171433ORPHA1217318129102610
HP:0003202HP:0003202Skeletal muscle atrophy0ACTA1 CL E G H5897244ORPHA1217318129102610
HP:0003202HP:0003202Skeletal muscle atrophy0ACTA1 CL E G H58171430ORPHA1217318129102610
HP:0003202HP:0003202Skeletal muscle atrophy0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11573257102750
HP:0003202HP:0003202Skeletal muscle atrophy0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158365291608222
HP:0003202HP:0003202Skeletal muscle atrophy0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140339315604581
HP:0003202HP:0003202Skeletal muscle atrophy0AGRN CL E G H37579098913ORPHA1181303329103320
HP:0003202HP:0003202Skeletal muscle atrophy0AGTPBP1 CL E G H23287618276618276618276OMIM115917258606830
HP:0003202HP:0003202Skeletal muscle atrophy0AIFM1 CL E G H9131238329ORPHA1333988768300169
HP:0003202HP:0003202Skeletal muscle atrophy0AIFM1 CL E G H9131101078ORPHA1333988768300169
HP:0003202HP:0003202Skeletal muscle atrophy0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM1333988768300169
HP:0003202HP:0003202Skeletal muscle atrophy0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1112392358605555
HP:0003202HP:0003202Skeletal muscle atrophy0AK9 CL E G H22126498913ORPHA134433814615358
HP:0003202HP:0003202Skeletal muscle atrophy0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM1333309722138250
HP:0003202HP:0003202Skeletal muscle atrophy0AMPD2 CL E G H271401805ORPHA118167469102771
HP:0003202HP:0003202Skeletal muscle atrophy0ANG CL E G H283803ORPHA14084483105850
HP:0003202HP:0003202Skeletal muscle atrophy0ANXA11 CL E G H311803ORPHA11493535602572
HP:0003202HP:0003202Skeletal muscle atrophy0AP1S2 CL E G H890585329ORPHA114215560300629
HP:0003202HP:0003202Skeletal muscle atrophy0AR CL E G H367481ORPHA1627478644313700
HP:0003202HP:0003202Skeletal muscle atrophy0ATM CL E G H472100ORPHA1132410266795607585
HP:0003202HP:0003202Skeletal muscle atrophy0ATP8A2 CL E G H517611766ORPHA11111913533605870
HP:0003202HP:0003202Skeletal muscle atrophy0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM177410548601556
HP:0003202HP:0003202Skeletal muscle atrophy0ATXN2 CL E G H6311803ORPHA1444910555601517
HP:0003202HP:0003202Skeletal muscle atrophy0B3GALNT2 CL E G H148789899ORPHA11633628596610194
HP:0003202HP:0003202Skeletal muscle atrophy0B3GALT6 CL E G H12679275496ORPHA14027017978615291
HP:0003202HP:0003202Skeletal muscle atrophy0B4GALNT1 CL E G H2583101006ORPHA1131424117601873
HP:0003202HP:0003202Skeletal muscle atrophy0B4GALT7 CL E G H1128575496ORPHA19169930604327
HP:0003202HP:0003202Skeletal muscle atrophy0B4GAT1 CL E G H11041899ORPHA1711915685605517
HP:0003202HP:0003202Skeletal muscle atrophy0BICD2 CL E G H23299618291618291618291OMIM13543617208609797
HP:0003202HP:0003202Skeletal muscle atrophy0BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM1212891067112264
HP:0003202HP:0003202Skeletal muscle atrophy0C12orf65 CL E G H91574320375ORPHA11126784613541
HP:0003202HP:0003202Skeletal muscle atrophy0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11126784613541
HP:0003202HP:0003202Skeletal muscle atrophy0C9orf72 CL E G H203228803ORPHA12416028337614260
HP:0003202HP:0003202Skeletal muscle atrophy0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM12416028337614260
HP:0003202HP:0003202Skeletal muscle atrophy0CA8 CL E G H7671766ORPHA14771382114815
HP:0003202HP:0003202Skeletal muscle atrophy0CAPN1 CL E G H823488594ORPHA118801476114220
HP:0003202HP:0003202Skeletal muscle atrophy0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM155428178613734
HP:0003202HP:0003202Skeletal muscle atrophy0CCNF CL E G H899803ORPHA1211081591600227
HP:0003202HP:0003202Skeletal muscle atrophy0CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM18461689107271
HP:0003202HP:0003202Skeletal muscle atrophy0CFAP410 CL E G H755803ORPHA12661260603191
HP:0003202HP:0003202Skeletal muscle atrophy0CHCHD10 CL E G H400916803ORPHA12720215559615903
HP:0003202HP:0003202Skeletal muscle atrophy0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM12720215559615903
HP:0003202HP:0003202Skeletal muscle atrophy0CHMP2B CL E G H25978803ORPHA12210924537609512
HP:0003202HP:0003202Skeletal muscle atrophy0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM12210924537609512
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNA1 CL E G H113498913ORPHA1363081955100690
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNB1 CL E G H114098913ORPHA1112771961100710
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112771961100710
HP:0003202HP:0003202Skeletal muscle atrophy0CHRND CL E G H114498913ORPHA1263221965100720
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNE CL E G H114598913ORPHA11385911966100725
HP:0003202HP:0003202Skeletal muscle atrophy0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11385911966100725
HP:0003202HP:0003202Skeletal muscle atrophy0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM1211478011602346
HP:0003202HP:0003202Skeletal muscle atrophy0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1520618622606978
HP:0003202HP:0003202Skeletal muscle atrophy0COL13A1 CL E G H130598913ORPHA131752190120350
HP:0003202HP:0003202Skeletal muscle atrophy0COL2A1 CL E G H12802380Freiberg's diseaseORPHA157011422200120140
HP:0003202HP:0003202Skeletal muscle atrophy0COL4A1 CL E G H1282899ORPHA11147842202120130
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113711922211120220
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119113552212120240
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119113552212120240
HP:0003202HP:0003202Skeletal muscle atrophy0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM114319362213120250
HP:0003202HP:0003202Skeletal muscle atrophy0CPT1A CL E G H1374156ORPHA1534502328600528
HP:0003202HP:0003202Skeletal muscle atrophy0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM129918540608846
HP:0003202HP:0003202Skeletal muscle atrophy0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11605492518606272
HP:0003202HP:0003202Skeletal muscle atrophy0DAG1 CL E G H1605899ORPHA1113732666128239
HP:0003202HP:0003202Skeletal muscle atrophy0DAO CL E G H1610803ORPHA111472671124050
HP:0003202HP:0003202Skeletal muscle atrophy0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16522025538610956
HP:0003202HP:0003202Skeletal muscle atrophy0DCTN1 CL E G H1639803ORPHA1575622711601143
HP:0003202HP:0003202Skeletal muscle atrophy0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM1641342858601465
HP:0003202HP:0003202Skeletal muscle atrophy0DHH CL E G H50846168563ORPHA118782865605423
HP:0003202HP:0003202Skeletal muscle atrophy0DHTKD1 CL E G H55526615025Charcot-Marie-Tooth disease, axonal, type 2Q615025C3554366OMIM11821223537614984
HP:0003202HP:0003202Skeletal muscle atrophy0DMD CL E G H175698896ORPHA1397050242928300377
HP:0003202HP:0003202Skeletal muscle atrophy0DMPK CL E G H1760273ORPHA182352933605377
HP:0003202HP:0003202Skeletal muscle atrophy0DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM151895228604139
HP:0003202HP:0003202Skeletal muscle atrophy0DOK7 CL E G H28548998913ORPHA17564126594610285
HP:0003202HP:0003202Skeletal muscle atrophy0DUX4 CL E G H100288687269ORPHA150800606009
HP:0003202HP:0003202Skeletal muscle atrophy0ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM16873363601752
HP:0003202HP:0003202Skeletal muscle atrophy0EPHA4 CL E G H2043803ORPHA14513388602188
HP:0003202HP:0003202Skeletal muscle atrophy0ERBB3 CL E G H2065607598Lethal congenital contracture syndrome 2607598C1843478OMIM14853431190151
HP:0003202HP:0003202Skeletal muscle atrophy0ERBB4 CL E G H2066803ORPHA1251993432600543
HP:0003202HP:0003202Skeletal muscle atrophy0ERGIC1 CL E G H572221143Cataract congenital autosomal dominantORPHA112329205617946
HP:0003202HP:0003202Skeletal muscle atrophy0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM1151351356611605
HP:0003202HP:0003202Skeletal muscle atrophy0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11915317944606489
HP:0003202HP:0003202Skeletal muscle atrophy0FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM172424200615584
HP:0003202HP:0003202Skeletal muscle atrophy0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14845413601605654
HP:0003202HP:0003202Skeletal muscle atrophy0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM1624283702300163
HP:0003202HP:0003202Skeletal muscle atrophy0FIG4 CL E G H9896803ORPHA17155316873609390
HP:0003202HP:0003202Skeletal muscle atrophy0FIG4 CL E G H9896612577Amyotrophic lateral sclerosis type 11612577C2675491OMIM17155316873609390
HP:0003202HP:0003202Skeletal muscle atrophy0FKBP14 CL E G H55033300179ORPHA1611618625614505
HP:0003202HP:0003202Skeletal muscle atrophy0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM1611618625614505
HP:0003202HP:0003202Skeletal muscle atrophy0FKRP CL E G H79147899ORPHA114156517997606596
HP:0003202HP:0003202Skeletal muscle atrophy0FKTN CL E G H2218899ORPHA1595893622607440
HP:0003202HP:0003202Skeletal muscle atrophy0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1595893622607440
HP:0003202HP:0003202Skeletal muscle atrophy0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127118133754300017
HP:0003202HP:0003202Skeletal muscle atrophy0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11732424682609144
HP:0003202HP:0003202Skeletal muscle atrophy0FRG1 CL E G H2483269ORPHA121213954601278
HP:0003202HP:0003202Skeletal muscle atrophy0FUS CL E G H2521803ORPHA11133184010137070
HP:0003202HP:0003202Skeletal muscle atrophy0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1744124180607839
HP:0003202HP:0003202Skeletal muscle atrophy0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1503734241138292
HP:0003202HP:0003202Skeletal muscle atrophy0GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM12315024298611458
HP:0003202HP:0003202Skeletal muscle atrophy0GLE1 CL E G H2733803ORPHA1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy0GLE1 CL E G H27331486Congenital herpes simplexORPHA1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy0GLE1 CL E G H2733611890Lethal arthrogryposis with anterior horn cell disease611890C2678471OMIM1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy0GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM12793134392139320
HP:0003202HP:0003202Skeletal muscle atrophy0GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM1161104699603942
HP:0003202HP:0003202Skeletal muscle atrophy0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11263574879606873
HP:0003202HP:0003202Skeletal muscle atrophy0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM1151144912601314
HP:0003202HP:0003202Skeletal muscle atrophy0HNRNPA1 CL E G H3178803ORPHA112585031164017
HP:0003202HP:0003202Skeletal muscle atrophy0HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM151255033600124
HP:0003202HP:0003202Skeletal muscle atrophy0HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM12625248604624
HP:0003202HP:0003202Skeletal muscle atrophy0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM16712925273142461
HP:0003202HP:0003202Skeletal muscle atrophy0INPP5K CL E G H51763559ORPHA11014133882607875
HP:0003202HP:0003202Skeletal muscle atrophy0INSR CL E G H3643508Acroosteolysis dominant typeORPHA11965036091147670
HP:0003202HP:0003202Skeletal muscle atrophy0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11965036091147670
HP:0003202HP:0003202Skeletal muscle atrophy0ISPD CL E G H729920899ORPHA153637276614631
HP:0003202HP:0003202Skeletal muscle atrophy0ISPD CL E G H729920352479ORPHA153637276614631
HP:0003202HP:0003202Skeletal muscle atrophy0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM1105066143600536
HP:0003202HP:0003202Skeletal muscle atrophy0KIF1A CL E G H547970ORPHA1431405888601255
HP:0003202HP:0003202Skeletal muscle atrophy0KLHL40 CL E G H131377171430ORPHA12626430372615340
HP:0003202HP:0003202Skeletal muscle atrophy0KLHL41 CL E G H10324171433ORPHA1915316905607701
HP:0003202HP:0003202Skeletal muscle atrophy0KLHL41 CL E G H10324171430ORPHA1915316905607701
HP:0003202HP:0003202Skeletal muscle atrophy0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM137026576605739
HP:0003202HP:0003202Skeletal muscle atrophy0LARGE1 CL E G H9215899ORPHA1285136511603590
HP:0003202HP:0003202Skeletal muscle atrophy0LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM1416516084607908
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H400079474ORPHA157413316636150330
HP:0003202HP:0003202Skeletal muscle atrophy0LMNA CL E G H4000157973ORPHA157413316636150330
HP:0003202HP:0003202Skeletal muscle atrophy0LMOD3 CL E G H56203171430ORPHA1182386649616112
HP:0003202HP:0003202Skeletal muscle atrophy0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM1182386649616112
HP:0003202HP:0003202Skeletal muscle atrophy0LRP4 CL E G H403898913ORPHA1345266696604270
HP:0003202HP:0003202Skeletal muscle atrophy0LTBP4 CL E G H842598896ORPHA1183776717604710
HP:0003202HP:0003202Skeletal muscle atrophy0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM177517797609479
HP:0003202HP:0003202Skeletal muscle atrophy0MATR3 CL E G H9782803ORPHA1162456912164015
HP:0003202HP:0003202Skeletal muscle atrophy0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11174026937609014
HP:0003202HP:0003202Skeletal muscle atrophy0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19876971154100
HP:0003202HP:0003202Skeletal muscle atrophy0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105015846990300005
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H4359101082ORPHA12464887225159440
HP:0003202HP:0003202Skeletal muscle atrophy0MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM12464887225159440
HP:0003202HP:0003202Skeletal muscle atrophy0MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0003202HP:0003202Skeletal muscle atrophy0MT-TL1 CL E G H4567480ORPHA17490590050
HP:0003202HP:0003202Skeletal muscle atrophy0MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM122317413156540
HP:0003202HP:0003202Skeletal muscle atrophy0MTM1 CL E G H4534596Albright like syndromeORPHA13276067448300415
HP:0003202HP:0003202Skeletal muscle atrophy0MUSK CL E G H459398913ORPHA1223807525601296
HP:0003202HP:0003202Skeletal muscle atrophy0MYBPC1 CL E G H4604614915Lethal congenital contracture syndrome 4614915C3554046OMIM182687549160794
HP:0003202HP:0003202Skeletal muscle atrophy0MYMK CL E G H3898271358ORPHA177633778615345
HP:0003202HP:0003202Skeletal muscle atrophy0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM177633778615345
HP:0003202HP:0003202Skeletal muscle atrophy0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16551819082611549
HP:0003202HP:0003202Skeletal muscle atrophy0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM11415826274612803
HP:0003202HP:0003202Skeletal muscle atrophy0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM120130117619609449
HP:0003202HP:0003202Skeletal muscle atrophy0NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM145223987614530
HP:0003202HP:0003202Skeletal muscle atrophy0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM11016228625612392
HP:0003202HP:0003202Skeletal muscle atrophy0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0003202HP:0003202Skeletal muscle atrophy0NEB CL E G H4703171433ORPHA132145957720161650
HP:0003202HP:0003202Skeletal muscle atrophy0NEB CL E G H4703171430ORPHA132145957720161650
HP:0003202HP:0003202Skeletal muscle atrophy0NEFH CL E G H4744803ORPHA1251457737162230
HP:0003202HP:0003202Skeletal muscle atrophy0NEK1 CL E G H4750803ORPHA1304127744604588
HP:0003202HP:0003202Skeletal muscle atrophy0NEU1 CL E G H4758812ORPHA1641107758608272
HP:0003202HP:0003202Skeletal muscle atrophy0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641107758608272
HP:0003202HP:0003202Skeletal muscle atrophy0NIPA1 CL E G H123606100988ORPHA11752217043608145
HP:0003202HP:0003202Skeletal muscle atrophy0NOP56 CL E G H10528276198ORPHA114315911614154
HP:0003202HP:0003202Skeletal muscle atrophy0OGDH CL E G H496731Serpiginous choroiditisORPHA11778124613022
HP:0003202HP:0003202Skeletal muscle atrophy0OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM13945638140605290
HP:0003202HP:0003202Skeletal muscle atrophy0OPTN CL E G H10133803ORPHA17223517142602432
HP:0003202HP:0003202Skeletal muscle atrophy0PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1201258773604961
HP:0003202HP:0003202Skeletal muscle atrophy0PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1111378794603390
HP:0003202HP:0003202Skeletal muscle atrophy0PEX7 CL E G H5191773ORPHA1533108860601757
HP:0003202HP:0003202Skeletal muscle atrophy0PFKM CL E G H5213371Qazi Markouizos syndromeORPHA1273378877610681
HP:0003202HP:0003202Skeletal muscle atrophy0PFN1 CL E G H5216803ORPHA19698881176610
HP:0003202HP:0003202Skeletal muscle atrophy0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM19698881176610
HP:0003202HP:0003202Skeletal muscle atrophy0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA1232778923606879
HP:0003202HP:0003202Skeletal muscle atrophy0PHKA1 CL E G H5255300559Glycogen storage disease IXd300559C1845151OMIM183468925311870
HP:0003202HP:0003202Skeletal muscle atrophy0PHYH CL E G H5264773ORPHA1372018940602026
HP:0003202HP:0003202Skeletal muscle atrophy0PIEZO2 CL E G H638952461ORPHA13263426270613629
HP:0003202HP:0003202Skeletal muscle atrophy0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM191518980603157
HP:0003202HP:0003202Skeletal muscle atrophy0PIP5K1C CL E G H23396611369Lethal congenital contractural syndrome 3611369C1969655OMIM131238996606102
HP:0003202HP:0003202Skeletal muscle atrophy0PLEC CL E G H5339254361ORPHA110433369069601282
HP:0003202HP:0003202Skeletal muscle atrophy0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM110433369069601282
HP:0003202HP:0003202Skeletal muscle atrophy0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13523289086300401
HP:0003202HP:0003202Skeletal muscle atrophy0PMP22 CL E G H5376101081ORPHA11653859118601097
HP:0003202HP:0003202Skeletal muscle atrophy0PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM1246659154605610
HP:0003202HP:0003202Skeletal muscle atrophy0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11623523166610316
HP:0003202HP:0003202Skeletal muscle atrophy0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130014389179174763
HP:0003202HP:0003202Skeletal muscle atrophy0POMGNT1 CL E G H55624899ORPHA18965219139606822
HP:0003202HP:0003202Skeletal muscle atrophy0POMGNT2 CL E G H84892899ORPHA1926325902614828
HP:0003202HP:0003202Skeletal muscle atrophy0POMK CL E G H84197899ORPHA1818726267615247
HP:0003202HP:0003202Skeletal muscle atrophy0POMT1 CL E G H10585899ORPHA1965999202607423
HP:0003202HP:0003202Skeletal muscle atrophy0POMT2 CL E G H29954899ORPHA17559919743607439
HP:0003202HP:0003202Skeletal muscle atrophy0PON1 CL E G H5444803ORPHA122569204168820
HP:0003202HP:0003202Skeletal muscle atrophy0PON2 CL E G H5445803ORPHA14479205602447
HP:0003202HP:0003202Skeletal muscle atrophy0PON3 CL E G H5446803ORPHA15459206602720
HP:0003202HP:0003202Skeletal muscle atrophy0PPARGC1A CL E G H10891803ORPHA110479237604517
HP:0003202HP:0003202Skeletal muscle atrophy0PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA14319380601639
HP:0003202HP:0003202Skeletal muscle atrophy0PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11886189388188830
HP:0003202HP:0003202Skeletal muscle atrophy0PRPH CL E G H5630803ORPHA110509461170710
HP:0003202HP:0003202Skeletal muscle atrophy0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM1103313420617413
HP:0003202HP:0003202Skeletal muscle atrophy0PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM16285013797605725
HP:0003202HP:0003202Skeletal muscle atrophy0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA11035419129610936
HP:0003202HP:0003202Skeletal muscle atrophy0PSMB8 CL E G H56962615ORPHA1111209545177046
HP:0003202HP:0003202Skeletal muscle atrophy0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM1111209545177046
HP:0003202HP:0003202Skeletal muscle atrophy0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1137430262616406
HP:0003202HP:0003202Skeletal muscle atrophy0RAPSN CL E G H591398913ORPHA1603189863601592
HP:0003202HP:0003202Skeletal muscle atrophy0RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM115121863612074
HP:0003202HP:0003202Skeletal muscle atrophy0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM16131225786609139
HP:0003202HP:0003202Skeletal muscle atrophy0RETREG1 CL E G H54463970ORPHA1636625964613114
HP:0003202HP:0003202Skeletal muscle atrophy0RNASEH1 CL E G H246243329336ORPHA148518466604123
HP:0003202HP:0003202Skeletal muscle atrophy0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM148518466604123
HP:0003202HP:0003202Skeletal muscle atrophy0RRM2B CL E G H50484480ORPHA14325317296604712
HP:0003202HP:0003202Skeletal muscle atrophy0RRM2B CL E G H50484329336ORPHA14325317296604712
HP:0003202HP:0003202Skeletal muscle atrophy0RXYLT1 CL E G H10329899ORPHA1815413530605862
HP:0003202HP:0003202Skeletal muscle atrophy0RYR1 CL E G H6261117000117000117000OMIM1688403410483180901
HP:0003202HP:0003202Skeletal muscle atrophy0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1688403410483180901
HP:0003202HP:0003202Skeletal muscle atrophy0SCN4A CL E G H632998913ORPHA1129105610591603967
HP:0003202HP:0003202Skeletal muscle atrophy0SCN9A CL E G H6335970ORPHA1129142710597603415
HP:0003202HP:0003202Skeletal muscle atrophy0SELENON CL E G H5719097244ORPHA16345015999606210
HP:0003202HP:0003202Skeletal muscle atrophy0SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM12927323604061
HP:0003202HP:0003202Skeletal muscle atrophy0SETX CL E G H23064357043ORPHA1216911445608465
HP:0003202HP:0003202Skeletal muscle atrophy0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM1414316088615564
HP:0003202HP:0003202Skeletal muscle atrophy0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM16940010809608896
HP:0003202HP:0003202Skeletal muscle atrophy0SIL1 CL E G H64374559ORPHA14920224624608005
HP:0003202HP:0003202Skeletal muscle atrophy0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM14920224624608005
HP:0003202HP:0003202Skeletal muscle atrophy0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12062310914604878
HP:0003202HP:0003202Skeletal muscle atrophy0SLC16A2 CL E G H656759ORPHA18827910923300095
HP:0003202HP:0003202Skeletal muscle atrophy0SLC25A19 CL E G H60386613710Striatal necrosis, bilateral, and progressive polyneuropathy613710C3150973OMIM1812014409606521
HP:0003202HP:0003202Skeletal muscle atrophy0SLC33A1 CL E G H9197612539Spastic paraplegia 42, autosomal dominant612539C2675528OMIM179495603690
HP:0003202HP:0003202Skeletal muscle atrophy0SLC52A2 CL E G H7958197229ORPHA12732330224607882
HP:0003202HP:0003202Skeletal muscle atrophy0SLC52A3 CL E G H11327897229ORPHA14431316187613350
HP:0003202HP:0003202Skeletal muscle atrophy0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16740111065603593
HP:0003202HP:0003202Skeletal muscle atrophy0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12843511079300231
HP:0003202HP:0003202Skeletal muscle atrophy0SMCHD1 CL E G H23347269ORPHA112569729090614982
HP:0003202HP:0003202Skeletal muscle atrophy0SOD1 CL E G H6647803ORPHA121720611179147450
HP:0003202HP:0003202Skeletal muscle atrophy0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM121720611179147450
HP:0003202HP:0003202Skeletal muscle atrophy0SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM134825356616086
HP:0003202HP:0003202Skeletal muscle atrophy0SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM11224511277605712
HP:0003202HP:0003202Skeletal muscle atrophy0SQSTM1 CL E G H8878803ORPHA19837811280601530
HP:0003202HP:0003202Skeletal muscle atrophy0SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM19837811280601530
HP:0003202HP:0003202Skeletal muscle atrophy0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM19837811280601530
HP:0003202HP:0003202Skeletal muscle atrophy0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM1412928423615521
HP:0003202HP:0003202Skeletal muscle atrophy0SUCLA2 CL E G H88031933ORPHA12923711448603921
HP:0003202HP:0003202Skeletal muscle atrophy0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12815911449611224
HP:0003202HP:0003202Skeletal muscle atrophy0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM112823811474185620
HP:0003202HP:0003202Skeletal muscle atrophy0TAF15 CL E G H8148803ORPHA1127611547601574
HP:0003202HP:0003202Skeletal muscle atrophy0TARDBP CL E G H23435803ORPHA17021411571605078
HP:0003202HP:0003202Skeletal muscle atrophy0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM17021411571605078
HP:0003202HP:0003202Skeletal muscle atrophy0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM194325622617687
HP:0003202HP:0003202Skeletal muscle atrophy0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12329411581604649
HP:0003202HP:0003202Skeletal muscle atrophy0TBK1 CL E G H29110803ORPHA113719611584604834
HP:0003202HP:0003202Skeletal muscle atrophy0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM113719611584604834
HP:0003202HP:0003202Skeletal muscle atrophy0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA1357611766190180
HP:0003202HP:0003202Skeletal muscle atrophy0TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM1357611766190180
HP:0003202HP:0003202Skeletal muscle atrophy0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM16022811831188250
HP:0003202HP:0003202Skeletal muscle atrophy0TNXB CL E G H7148230839ORPHA13861211976600985
HP:0003202HP:0003202Skeletal muscle atrophy0TPI1 CL E G H7167868ORPHA11910912009190450
HP:0003202HP:0003202Skeletal muscle atrophy0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM11910912009190450
HP:0003202HP:0003202Skeletal muscle atrophy0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM14022812011190990
HP:0003202HP:0003202Skeletal muscle atrophy0TPM3 CL E G H7170171433ORPHA12825612012191030
HP:0003202HP:0003202Skeletal muscle atrophy0TREM2 CL E G H54209803ORPHA1566417761605086
HP:0003202HP:0003202Skeletal muscle atrophy0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM11023226006613814
HP:0003202HP:0003202Skeletal muscle atrophy0TTN CL E G H7273178464ORPHA13461765312403188840
HP:0003202HP:0003202Skeletal muscle atrophy0TUBB2B CL E G H3477331766ORPHA13013630829612850
HP:0003202HP:0003202Skeletal muscle atrophy0UBQLN2 CL E G H29978803ORPHA13119512509300264
HP:0003202HP:0003202Skeletal muscle atrophy0UNC13A CL E G H23025803ORPHA1116523150609894
HP:0003202HP:0003202Skeletal muscle atrophy0USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM119812631603158
HP:0003202HP:0003202Skeletal muscle atrophy0VAPB CL E G H9217803ORPHA11027212649605704
HP:0003202HP:0003202Skeletal muscle atrophy0VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM11027212649605704
HP:0003202HP:0003202Skeletal muscle atrophy0VCP CL E G H7415803ORPHA16534512666601023
HP:0003202HP:0003202Skeletal muscle atrophy0VCP CL E G H7415435387ORPHA16534512666601023
HP:0003202HP:0003202Skeletal muscle atrophy0VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM16534512666601023
HP:0003202HP:0003202Skeletal muscle atrophy0VLDLR CL E G H74361766ORPHA12845112698192977
HP:0003202HP:0003202Skeletal muscle atrophy0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM11122322082300913
HP:0003202HP:0003202Skeletal muscle atrophy0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM111612301908605978
HP:0003202HP:0003202Skeletal muscle atrophy0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM1145012730604733
HP:0003202HP:0003202Skeletal muscle atrophy0WDR81 CL E G H1249971766ORPHA11724026600614218
HP:0003202HP:0003202Skeletal muscle atrophy0WNK1 CL E G H65125970ORPHA118109014540605232
HP:0003202HP:0003202Skeletal muscle atrophy0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1115194312791604611
HP:0003202HP:0003202Skeletal muscle atrophy1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM12120601065
HP:0003202HP:0003202Skeletal muscle atrophy1ACTA1 CL E G H58171433ORPHA1217318129102610
HP:0003202HP:0003202Skeletal muscle atrophy1ACTA1 CL E G H5897244ORPHA1217318129102610
HP:0003202HP:0003202Skeletal muscle atrophy1ACTA1 CL E G H58171430ORPHA1217318129102610
HP:0003202HP:0003202Skeletal muscle atrophy1ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11573257102750
HP:0003202HP:0003202Skeletal muscle atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158365291608222
HP:0003202HP:0003202Skeletal muscle atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140339315604581
HP:0003202HP:0003202Skeletal muscle atrophy1AGRN CL E G H37579098913ORPHA1181303329103320
HP:0003202HP:0003202Skeletal muscle atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM115917258606830
HP:0003202HP:0003202Skeletal muscle atrophy1AIFM1 CL E G H9131238329ORPHA1333988768300169
HP:0003202HP:0003202Skeletal muscle atrophy1AIFM1 CL E G H9131101078ORPHA1333988768300169
HP:0003202HP:0003202Skeletal muscle atrophy1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM1333988768300169
HP:0003202HP:0003202Skeletal muscle atrophy1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1112392358605555
HP:0003202HP:0003202Skeletal muscle atrophy1AK9 CL E G H22126498913ORPHA134433814615358
HP:0003202HP:0003202Skeletal muscle atrophy1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM1333309722138250
HP:0003202HP:0003202Skeletal muscle atrophy1AMPD2 CL E G H271401805ORPHA118167469102771
HP:0003202HP:0003202Skeletal muscle atrophy1ANG CL E G H283803ORPHA14084483105850
HP:0003202HP:0003202Skeletal muscle atrophy1ANXA11 CL E G H311803ORPHA11493535602572
HP:0003202HP:0003202Skeletal muscle atrophy1AP1S2 CL E G H890585329ORPHA114215560300629
HP:0003202HP:0003202Skeletal muscle atrophy1AR CL E G H367481ORPHA1627478644313700
HP:0003202HP:0003202Skeletal muscle atrophy1ATM CL E G H472100ORPHA1132410266795607585
HP:0003202HP:0003202Skeletal muscle atrophy1ATP8A2 CL E G H517611766ORPHA11111913533605870
HP:0003202HP:0003202Skeletal muscle atrophy1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM177410548601556
HP:0003202HP:0003202Skeletal muscle atrophy1ATXN2 CL E G H6311803ORPHA1444910555601517
HP:0003202HP:0003202Skeletal muscle atrophy1B3GALNT2 CL E G H148789899ORPHA11633628596610194
HP:0003202HP:0003202Skeletal muscle atrophy1B3GALT6 CL E G H12679275496ORPHA14027017978615291
HP:0003202HP:0003202Skeletal muscle atrophy1B4GALNT1 CL E G H2583101006ORPHA1131424117601873
HP:0003202HP:0003202Skeletal muscle atrophy1B4GALT7 CL E G H1128575496ORPHA19169930604327
HP:0003202HP:0003202Skeletal muscle atrophy1B4GAT1 CL E G H11041899ORPHA1711915685605517
HP:0003202HP:0003202Skeletal muscle atrophy1BICD2 CL E G H23299618291618291618291OMIM13543617208609797
HP:0003202HP:0003202Skeletal muscle atrophy1BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM1212891067112264
HP:0003202HP:0003202Skeletal muscle atrophy1C12orf65 CL E G H91574320375ORPHA11126784613541
HP:0003202HP:0003202Skeletal muscle atrophy1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11126784613541
HP:0003202HP:0003202Skeletal muscle atrophy1C9orf72 CL E G H203228803ORPHA12416028337614260
HP:0003202HP:0003202Skeletal muscle atrophy1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM12416028337614260
HP:0003202HP:0003202Skeletal muscle atrophy1CA8 CL E G H7671766ORPHA14771382114815
HP:0003202HP:0003202Skeletal muscle atrophy1CAPN1 CL E G H823488594ORPHA118801476114220
HP:0003202HP:0003202Skeletal muscle atrophy1CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM155428178613734
HP:0003202HP:0003202Skeletal muscle atrophy1CCNF CL E G H899803ORPHA1211081591600227
HP:0003202HP:0003202Skeletal muscle atrophy1CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM18461689107271
HP:0003202HP:0003202Skeletal muscle atrophy1CFAP410 CL E G H755803ORPHA12661260603191
HP:0003202HP:0003202Skeletal muscle atrophy1CHCHD10 CL E G H400916803ORPHA12720215559615903
HP:0003202HP:0003202Skeletal muscle atrophy1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM12720215559615903
HP:0003202HP:0003202Skeletal muscle atrophy1CHMP2B CL E G H25978803ORPHA12210924537609512
HP:0003202HP:0003202Skeletal muscle atrophy1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM12210924537609512
HP:0003202HP:0003202Skeletal muscle atrophy1CHRNA1 CL E G H113498913ORPHA1363081955100690
HP:0003202HP:0003202Skeletal muscle atrophy1CHRNB1 CL E G H114098913ORPHA1112771961100710
HP:0003202HP:0003202Skeletal muscle atrophy1CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112771961100710
HP:0003202HP:0003202Skeletal muscle atrophy1CHRND CL E G H114498913ORPHA1263221965100720
HP:0003202HP:0003202Skeletal muscle atrophy1CHRNE CL E G H114598913ORPHA11385911966100725
HP:0003202HP:0003202Skeletal muscle atrophy1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11385911966100725
HP:0003202HP:0003202Skeletal muscle atrophy1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM1211478011602346
HP:0003202HP:0003202Skeletal muscle atrophy1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1520618622606978
HP:0003202HP:0003202Skeletal muscle atrophy1COL13A1 CL E G H130598913ORPHA131752190120350
HP:0003202HP:0003202Skeletal muscle atrophy1COL2A1 CL E G H12802380Freiberg's diseaseORPHA157011422200120140
HP:0003202HP:0003202Skeletal muscle atrophy1COL4A1 CL E G H1282899ORPHA11147842202120130
HP:0003202HP:0003202Skeletal muscle atrophy1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113711922211120220
HP:0003202HP:0003202Skeletal muscle atrophy1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119113552212120240
HP:0003202HP:0003202Skeletal muscle atrophy1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119113552212120240
HP:0003202HP:0003202Skeletal muscle atrophy1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM114319362213120250
HP:0003202HP:0003202Skeletal muscle atrophy1CPT1A CL E G H1374156ORPHA1534502328600528
HP:0003202HP:0003202Skeletal muscle atrophy1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM129918540608846
HP:0003202HP:0003202Skeletal muscle atrophy1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11605492518606272
HP:0003202HP:0003202Skeletal muscle atrophy1DAG1 CL E G H1605899ORPHA1113732666128239
HP:0003202HP:0003202Skeletal muscle atrophy1DAO CL E G H1610803ORPHA111472671124050
HP:0003202HP:0003202Skeletal muscle atrophy1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16522025538610956
HP:0003202HP:0003202Skeletal muscle atrophy1DCTN1 CL E G H1639803ORPHA1575622711601143
HP:0003202HP:0003202Skeletal muscle atrophy1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM1641342858601465
HP:0003202HP:0003202Skeletal muscle atrophy1DHH CL E G H50846168563ORPHA118782865605423
HP:0003202HP:0003202Skeletal muscle atrophy1DHTKD1 CL E G H55526615025Charcot-Marie-Tooth disease, axonal, type 2Q615025C3554366OMIM11821223537614984
HP:0003202HP:0003202Skeletal muscle atrophy1DMD CL E G H175698896ORPHA1397050242928300377
HP:0003202HP:0003202Skeletal muscle atrophy1DMPK CL E G H1760273ORPHA182352933605377
HP:0003202HP:0003202Skeletal muscle atrophy1DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM151895228604139
HP:0003202HP:0003202Skeletal muscle atrophy1DOK7 CL E G H28548998913ORPHA17564126594610285
HP:0003202HP:0003202Skeletal muscle atrophy1DUX4 CL E G H100288687269ORPHA150800606009
HP:0003202HP:0003202Skeletal muscle atrophy1ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM16873363601752
HP:0003202HP:0003202Skeletal muscle atrophy1EPHA4 CL E G H2043803ORPHA14513388602188
HP:0003202HP:0003202Skeletal muscle atrophy1ERBB3 CL E G H2065607598Lethal congenital contracture syndrome 2607598C1843478OMIM14853431190151
HP:0003202HP:0003202Skeletal muscle atrophy1ERBB4 CL E G H2066803ORPHA1251993432600543
HP:0003202HP:0003202Skeletal muscle atrophy1ERGIC1 CL E G H572221143Cataract congenital autosomal dominantORPHA112329205617946
HP:0003202HP:0003202Skeletal muscle atrophy1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM1151351356611605
HP:0003202HP:0003202Skeletal muscle atrophy1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11915317944606489
HP:0003202HP:0003202Skeletal muscle atrophy1FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM172424200615584
HP:0003202HP:0003202Skeletal muscle atrophy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14845413601605654
HP:0003202HP:0003202Skeletal muscle atrophy1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM1624283702300163
HP:0003202HP:0003202Skeletal muscle atrophy1FIG4 CL E G H9896803ORPHA17155316873609390
HP:0003202HP:0003202Skeletal muscle atrophy1FIG4 CL E G H9896612577Amyotrophic lateral sclerosis type 11612577C2675491OMIM17155316873609390
HP:0003202HP:0003202Skeletal muscle atrophy1FKBP14 CL E G H55033300179ORPHA1611618625614505
HP:0003202HP:0003202Skeletal muscle atrophy1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM1611618625614505
HP:0003202HP:0003202Skeletal muscle atrophy1FKRP CL E G H79147899ORPHA114156517997606596
HP:0003202HP:0003202Skeletal muscle atrophy1FKTN CL E G H2218899ORPHA1595893622607440
HP:0003202HP:0003202Skeletal muscle atrophy1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1595893622607440
HP:0003202HP:0003202Skeletal muscle atrophy1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127118133754300017
HP:0003202HP:0003202Skeletal muscle atrophy1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11732424682609144
HP:0003202HP:0003202Skeletal muscle atrophy1FRG1 CL E G H2483269ORPHA121213954601278
HP:0003202HP:0003202Skeletal muscle atrophy1FUS CL E G H2521803ORPHA11133184010137070
HP:0003202HP:0003202Skeletal muscle atrophy1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1744124180607839
HP:0003202HP:0003202Skeletal muscle atrophy1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1503734241138292
HP:0003202HP:0003202Skeletal muscle atrophy1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM12315024298611458
HP:0003202HP:0003202Skeletal muscle atrophy1GLE1 CL E G H2733803ORPHA1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy1GLE1 CL E G H27331486Congenital herpes simplexORPHA1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy1GLE1 CL E G H2733611890Lethal arthrogryposis with anterior horn cell disease611890C2678471OMIM1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy1GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM12793134392139320
HP:0003202HP:0003202Skeletal muscle atrophy1GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM1161104699603942
HP:0003202HP:0003202Skeletal muscle atrophy1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11263574879606873
HP:0003202HP:0003202Skeletal muscle atrophy1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM1151144912601314
HP:0003202HP:0003202Skeletal muscle atrophy1HNRNPA1 CL E G H3178803ORPHA112585031164017
HP:0003202HP:0003202Skeletal muscle atrophy1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM151255033600124
HP:0003202HP:0003202Skeletal muscle atrophy1HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM12625248604624
HP:0003202HP:0003202Skeletal muscle atrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM16712925273142461
HP:0003202HP:0003202Skeletal muscle atrophy1INPP5K CL E G H51763559ORPHA11014133882607875
HP:0003202HP:0003202Skeletal muscle atrophy1INSR CL E G H3643508Acroosteolysis dominant typeORPHA11965036091147670
HP:0003202HP:0003202Skeletal muscle atrophy1INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11965036091147670
HP:0003202HP:0003202Skeletal muscle atrophy1ISPD CL E G H729920899ORPHA153637276614631
HP:0003202HP:0003202Skeletal muscle atrophy1ISPD CL E G H729920352479ORPHA153637276614631
HP:0003202HP:0003202Skeletal muscle atrophy1ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM1105066143600536
HP:0003202HP:0003202Skeletal muscle atrophy1KIF1A CL E G H547970ORPHA1431405888601255
HP:0003202HP:0003202Skeletal muscle atrophy1KLHL40 CL E G H131377171430ORPHA12626430372615340
HP:0003202HP:0003202Skeletal muscle atrophy1KLHL41 CL E G H10324171430ORPHA1915316905607701
HP:0003202HP:0003202Skeletal muscle atrophy1KLHL41 CL E G H10324171433ORPHA1915316905607701
HP:0003202HP:0003202Skeletal muscle atrophy1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM137026576605739
HP:0003202HP:0003202Skeletal muscle atrophy1LARGE1 CL E G H9215899ORPHA1285136511603590
HP:0003202HP:0003202Skeletal muscle atrophy1LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM1416516084607908
HP:0003202HP:0003202Skeletal muscle atrophy1LMNA CL E G H4000157973ORPHA157413316636150330
HP:0003202HP:0003202Skeletal muscle atrophy1LMNA CL E G H400079474ORPHA157413316636150330
HP:0003202HP:0003202Skeletal muscle atrophy1LMOD3 CL E G H56203171430ORPHA1182386649616112
HP:0003202HP:0003202Skeletal muscle atrophy1LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM1182386649616112
HP:0003202HP:0003202Skeletal muscle atrophy1LRP4 CL E G H403898913ORPHA1345266696604270
HP:0003202HP:0003202Skeletal muscle atrophy1LTBP4 CL E G H842598896ORPHA1183776717604710
HP:0003202HP:0003202Skeletal muscle atrophy1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM177517797609479
HP:0003202HP:0003202Skeletal muscle atrophy1MATR3 CL E G H9782803ORPHA1162456912164015
HP:0003202HP:0003202Skeletal muscle atrophy1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11174026937609014
HP:0003202HP:0003202Skeletal muscle atrophy1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19876971154100
HP:0003202HP:0003202Skeletal muscle atrophy1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105015846990300005
HP:0003202HP:0003202Skeletal muscle atrophy1MPZ CL E G H4359101082ORPHA12464887225159440
HP:0003202HP:0003202Skeletal muscle atrophy1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM12464887225159440
HP:0003202HP:0003202Skeletal muscle atrophy1MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0003202HP:0003202Skeletal muscle atrophy1MT-TL1 CL E G H4567480ORPHA17490590050
HP:0003202HP:0003202Skeletal muscle atrophy1MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM122317413156540
HP:0003202HP:0003202Skeletal muscle atrophy1MTM1 CL E G H4534596Albright like syndromeORPHA13276067448300415
HP:0003202HP:0003202Skeletal muscle atrophy1MUSK CL E G H459398913ORPHA1223807525601296
HP:0003202HP:0003202Skeletal muscle atrophy1MYBPC1 CL E G H4604614915Lethal congenital contracture syndrome 4614915C3554046OMIM182687549160794
HP:0003202HP:0003202Skeletal muscle atrophy1MYMK CL E G H3898271358ORPHA177633778615345
HP:0003202HP:0003202Skeletal muscle atrophy1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM177633778615345
HP:0003202HP:0003202Skeletal muscle atrophy1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16551819082611549
HP:0003202HP:0003202Skeletal muscle atrophy1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM11415826274612803
HP:0003202HP:0003202Skeletal muscle atrophy1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM120130117619609449
HP:0003202HP:0003202Skeletal muscle atrophy1NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM145223987614530
HP:0003202HP:0003202Skeletal muscle atrophy1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM11016228625612392
HP:0003202HP:0003202Skeletal muscle atrophy1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0003202HP:0003202Skeletal muscle atrophy1NEB CL E G H4703171430ORPHA132145957720161650
HP:0003202HP:0003202Skeletal muscle atrophy1NEB CL E G H4703171433ORPHA132145957720161650
HP:0003202HP:0003202Skeletal muscle atrophy1NEFH CL E G H4744803ORPHA1251457737162230
HP:0003202HP:0003202Skeletal muscle atrophy1NEK1 CL E G H4750803ORPHA1304127744604588
HP:0003202HP:0003202Skeletal muscle atrophy1NEU1 CL E G H4758812ORPHA1641107758608272
HP:0003202HP:0003202Skeletal muscle atrophy1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641107758608272
HP:0003202HP:0003202Skeletal muscle atrophy1NIPA1 CL E G H123606100988ORPHA11752217043608145
HP:0003202HP:0003202Skeletal muscle atrophy1NOP56 CL E G H10528276198ORPHA114315911614154
HP:0003202HP:0003202Skeletal muscle atrophy1OGDH CL E G H496731Serpiginous choroiditisORPHA11778124613022
HP:0003202HP:0003202Skeletal muscle atrophy1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM13945638140605290
HP:0003202HP:0003202Skeletal muscle atrophy1OPTN CL E G H10133803ORPHA17223517142602432
HP:0003202HP:0003202Skeletal muscle atrophy1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1201258773604961
HP:0003202HP:0003202Skeletal muscle atrophy1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1111378794603390
HP:0003202HP:0003202Skeletal muscle atrophy1PEX7 CL E G H5191773ORPHA1533108860601757
HP:0003202HP:0003202Skeletal muscle atrophy1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA1273378877610681
HP:0003202HP:0003202Skeletal muscle atrophy1PFN1 CL E G H5216803ORPHA19698881176610
HP:0003202HP:0003202Skeletal muscle atrophy1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM19698881176610
HP:0003202HP:0003202Skeletal muscle atrophy1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA1232778923606879
HP:0003202HP:0003202Skeletal muscle atrophy1PHKA1 CL E G H5255300559Glycogen storage disease IXd300559C1845151OMIM183468925311870
HP:0003202HP:0003202Skeletal muscle atrophy1PHYH CL E G H5264773ORPHA1372018940602026
HP:0003202HP:0003202Skeletal muscle atrophy1PIEZO2 CL E G H638952461ORPHA13263426270613629
HP:0003202HP:0003202Skeletal muscle atrophy1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM191518980603157
HP:0003202HP:0003202Skeletal muscle atrophy1PIP5K1C CL E G H23396611369Lethal congenital contractural syndrome 3611369C1969655OMIM131238996606102
HP:0003202HP:0003202Skeletal muscle atrophy1PLEC CL E G H5339254361ORPHA110433369069601282
HP:0003202HP:0003202Skeletal muscle atrophy1PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM110433369069601282
HP:0003202HP:0003202Skeletal muscle atrophy1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13523289086300401
HP:0003202HP:0003202Skeletal muscle atrophy1PMP22 CL E G H5376101081ORPHA11653859118601097
HP:0003202HP:0003202Skeletal muscle atrophy1PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM1246659154605610
HP:0003202HP:0003202Skeletal muscle atrophy1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11623523166610316
HP:0003202HP:0003202Skeletal muscle atrophy1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130014389179174763
HP:0003202HP:0003202Skeletal muscle atrophy1POMGNT1 CL E G H55624899ORPHA18965219139606822
HP:0003202HP:0003202Skeletal muscle atrophy1POMGNT2 CL E G H84892899ORPHA1926325902614828
HP:0003202HP:0003202Skeletal muscle atrophy1POMK CL E G H84197899ORPHA1818726267615247
HP:0003202HP:0003202Skeletal muscle atrophy1POMT1 CL E G H10585899ORPHA1965999202607423
HP:0003202HP:0003202Skeletal muscle atrophy1POMT2 CL E G H29954899ORPHA17559919743607439
HP:0003202HP:0003202Skeletal muscle atrophy1PON1 CL E G H5444803ORPHA122569204168820
HP:0003202HP:0003202Skeletal muscle atrophy1PON2 CL E G H5445803ORPHA14479205602447
HP:0003202HP:0003202Skeletal muscle atrophy1PON3 CL E G H5446803ORPHA15459206602720
HP:0003202HP:0003202Skeletal muscle atrophy1PPARGC1A CL E G H10891803ORPHA110479237604517
HP:0003202HP:0003202Skeletal muscle atrophy1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA14319380601639
HP:0003202HP:0003202Skeletal muscle atrophy1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11886189388188830
HP:0003202HP:0003202Skeletal muscle atrophy1PRPH CL E G H5630803ORPHA110509461170710
HP:0003202HP:0003202Skeletal muscle atrophy1PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM1103313420617413
HP:0003202HP:0003202Skeletal muscle atrophy1PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM16285013797605725
HP:0003202HP:0003202Skeletal muscle atrophy1PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA11035419129610936
HP:0003202HP:0003202Skeletal muscle atrophy1PSMB8 CL E G H56962615ORPHA1111209545177046
HP:0003202HP:0003202Skeletal muscle atrophy1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM1111209545177046
HP:0003202HP:0003202Skeletal muscle atrophy1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1137430262616406
HP:0003202HP:0003202Skeletal muscle atrophy1RAPSN CL E G H591398913ORPHA1603189863601592
HP:0003202HP:0003202Skeletal muscle atrophy1RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM115121863612074
HP:0003202HP:0003202Skeletal muscle atrophy1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM16131225786609139
HP:0003202HP:0003202Skeletal muscle atrophy1RETREG1 CL E G H54463970ORPHA1636625964613114
HP:0003202HP:0003202Skeletal muscle atrophy1RNASEH1 CL E G H246243329336ORPHA148518466604123
HP:0003202HP:0003202Skeletal muscle atrophy1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM148518466604123
HP:0003202HP:0003202Skeletal muscle atrophy1RRM2B CL E G H50484480ORPHA14325317296604712
HP:0003202HP:0003202Skeletal muscle atrophy1RRM2B CL E G H50484329336ORPHA14325317296604712
HP:0003202HP:0003202Skeletal muscle atrophy1RXYLT1 CL E G H10329899ORPHA1815413530605862
HP:0003202HP:0003202Skeletal muscle atrophy1RYR1 CL E G H6261117000117000117000OMIM1688403410483180901
HP:0003202HP:0003202Skeletal muscle atrophy1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1688403410483180901
HP:0003202HP:0003202Skeletal muscle atrophy1SCN4A CL E G H632998913ORPHA1129105610591603967
HP:0003202HP:0003202Skeletal muscle atrophy1SCN9A CL E G H6335970ORPHA1129142710597603415
HP:0003202HP:0003202Skeletal muscle atrophy1SELENON CL E G H5719097244ORPHA16345015999606210
HP:0003202HP:0003202Skeletal muscle atrophy1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM12927323604061
HP:0003202HP:0003202Skeletal muscle atrophy1SETX CL E G H23064357043ORPHA1216911445608465
HP:0003202HP:0003202Skeletal muscle atrophy1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM1414316088615564
HP:0003202HP:0003202Skeletal muscle atrophy1SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM16940010809608896
HP:0003202HP:0003202Skeletal muscle atrophy1SIL1 CL E G H64374559ORPHA14920224624608005
HP:0003202HP:0003202Skeletal muscle atrophy1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM14920224624608005
HP:0003202HP:0003202Skeletal muscle atrophy1SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12062310914604878
HP:0003202HP:0003202Skeletal muscle atrophy1SLC16A2 CL E G H656759ORPHA18827910923300095
HP:0003202HP:0003202Skeletal muscle atrophy1SLC25A19 CL E G H60386613710Striatal necrosis, bilateral, and progressive polyneuropathy613710C3150973OMIM1812014409606521
HP:0003202HP:0003202Skeletal muscle atrophy1SLC33A1 CL E G H9197612539Spastic paraplegia 42, autosomal dominant612539C2675528OMIM179495603690
HP:0003202HP:0003202Skeletal muscle atrophy1SLC52A2 CL E G H7958197229ORPHA12732330224607882
HP:0003202HP:0003202Skeletal muscle atrophy1SLC52A3 CL E G H11327897229ORPHA14431316187613350
HP:0003202HP:0003202Skeletal muscle atrophy1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16740111065603593
HP:0003202HP:0003202Skeletal muscle atrophy1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12843511079300231
HP:0003202HP:0003202Skeletal muscle atrophy1SMCHD1 CL E G H23347269ORPHA112569729090614982
HP:0003202HP:0003202Skeletal muscle atrophy1SOD1 CL E G H6647803ORPHA121720611179147450
HP:0003202HP:0003202Skeletal muscle atrophy1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM121720611179147450
HP:0003202HP:0003202Skeletal muscle atrophy1SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM134825356616086
HP:0003202HP:0003202Skeletal muscle atrophy1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM11224511277605712
HP:0003202HP:0003202Skeletal muscle atrophy1SQSTM1 CL E G H8878803ORPHA19837811280601530
HP:0003202HP:0003202Skeletal muscle atrophy1SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM19837811280601530
HP:0003202HP:0003202Skeletal muscle atrophy1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM19837811280601530
HP:0003202HP:0003202Skeletal muscle atrophy1STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM1412928423615521
HP:0003202HP:0003202Skeletal muscle atrophy1SUCLA2 CL E G H88031933ORPHA12923711448603921
HP:0003202HP:0003202Skeletal muscle atrophy1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12815911449611224
HP:0003202HP:0003202Skeletal muscle atrophy1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM112823811474185620
HP:0003202HP:0003202Skeletal muscle atrophy1TAF15 CL E G H8148803ORPHA1127611547601574
HP:0003202HP:0003202Skeletal muscle atrophy1TARDBP CL E G H23435803ORPHA17021411571605078
HP:0003202HP:0003202Skeletal muscle atrophy1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM17021411571605078
HP:0003202HP:0003202Skeletal muscle atrophy1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM194325622617687
HP:0003202HP:0003202Skeletal muscle atrophy1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12329411581604649
HP:0003202HP:0003202Skeletal muscle atrophy1TBK1 CL E G H29110803ORPHA113719611584604834
HP:0003202HP:0003202Skeletal muscle atrophy1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM113719611584604834
HP:0003202HP:0003202Skeletal muscle atrophy1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA1357611766190180
HP:0003202HP:0003202Skeletal muscle atrophy1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM1357611766190180
HP:0003202HP:0003202Skeletal muscle atrophy1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM16022811831188250
HP:0003202HP:0003202Skeletal muscle atrophy1TNXB CL E G H7148230839ORPHA13861211976600985
HP:0003202HP:0003202Skeletal muscle atrophy1TPI1 CL E G H7167868ORPHA11910912009190450
HP:0003202HP:0003202Skeletal muscle atrophy1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM11910912009190450
HP:0003202HP:0003202Skeletal muscle atrophy1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM14022812011190990
HP:0003202HP:0003202Skeletal muscle atrophy1TPM3 CL E G H7170171433ORPHA12825612012191030
HP:0003202HP:0003202Skeletal muscle atrophy1TREM2 CL E G H54209803ORPHA1566417761605086
HP:0003202HP:0003202Skeletal muscle atrophy1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM11023226006613814
HP:0003202HP:0003202Skeletal muscle atrophy1TTN CL E G H7273178464ORPHA13461765312403188840
HP:0003202HP:0003202Skeletal muscle atrophy1TUBB2B CL E G H3477331766ORPHA13013630829612850
HP:0003202HP:0003202Skeletal muscle atrophy1UBQLN2 CL E G H29978803ORPHA13119512509300264
HP:0003202HP:0003202Skeletal muscle atrophy1UNC13A CL E G H23025803ORPHA1116523150609894
HP:0003202HP:0003202Skeletal muscle atrophy1USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM119812631603158
HP:0003202HP:0003202Skeletal muscle atrophy1VAPB CL E G H9217803ORPHA11027212649605704
HP:0003202HP:0003202Skeletal muscle atrophy1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM11027212649605704
HP:0003202HP:0003202Skeletal muscle atrophy1VCP CL E G H7415435387ORPHA16534512666601023
HP:0003202HP:0003202Skeletal muscle atrophy1VCP CL E G H7415803ORPHA16534512666601023
HP:0003202HP:0003202Skeletal muscle atrophy1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM16534512666601023
HP:0003202HP:0003202Skeletal muscle atrophy1VLDLR CL E G H74361766ORPHA12845112698192977
HP:0003202HP:0003202Skeletal muscle atrophy1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM11122322082300913
HP:0003202HP:0003202Skeletal muscle atrophy1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM111612301908605978
HP:0003202HP:0003202Skeletal muscle atrophy1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM1145012730604733
HP:0003202HP:0003202Skeletal muscle atrophy1WDR81 CL E G H1249971766ORPHA11724026600614218
HP:0003202HP:0003202Skeletal muscle atrophy1WNK1 CL E G H65125970ORPHA118109014540605232
HP:0003202HP:0003202Skeletal muscle atrophy1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1115194312791604611
HP:0003202HP:0003202Skeletal muscle atrophy2AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM12120601065
HP:0003202HP:0003202Skeletal muscle atrophy2ACTA1 CL E G H5897244ORPHA1217318129102610
HP:0003202HP:0003202Skeletal muscle atrophy2ACTA1 CL E G H58171430ORPHA1217318129102610
HP:0003202HP:0003202Skeletal muscle atrophy2ACTA1 CL E G H58171433ORPHA1217318129102610
HP:0003202HP:0003202Skeletal muscle atrophy2ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11573257102750
HP:0003202HP:0003202Skeletal muscle atrophy2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158365291608222
HP:0003202HP:0003202Skeletal muscle atrophy2AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140339315604581
HP:0003202HP:0003202Skeletal muscle atrophy2AGRN CL E G H37579098913ORPHA1181303329103320
HP:0003202HP:0003202Skeletal muscle atrophy2AGTPBP1 CL E G H23287618276618276618276OMIM115917258606830
HP:0003202HP:0003202Skeletal muscle atrophy2AIFM1 CL E G H9131238329ORPHA1333988768300169
HP:0003202HP:0003202Skeletal muscle atrophy2AIFM1 CL E G H9131101078ORPHA1333988768300169
HP:0003202HP:0003202Skeletal muscle atrophy2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM1333988768300169
HP:0003202HP:0003202Skeletal muscle atrophy2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1112392358605555
HP:0003202HP:0003202Skeletal muscle atrophy2AK9 CL E G H22126498913ORPHA134433814615358
HP:0003202HP:0003202Skeletal muscle atrophy2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM1333309722138250
HP:0003202HP:0003202Skeletal muscle atrophy2AMPD2 CL E G H271401805ORPHA118167469102771
HP:0003202HP:0003202Skeletal muscle atrophy2ANG CL E G H283803ORPHA14084483105850
HP:0003202HP:0003202Skeletal muscle atrophy2ANXA11 CL E G H311803ORPHA11493535602572
HP:0003202HP:0003202Skeletal muscle atrophy2AP1S2 CL E G H890585329ORPHA114215560300629
HP:0003202HP:0003202Skeletal muscle atrophy2AR CL E G H367481ORPHA1627478644313700
HP:0003202HP:0003202Skeletal muscle atrophy2ATM CL E G H472100ORPHA1132410266795607585
HP:0003202HP:0003202Skeletal muscle atrophy2ATP8A2 CL E G H517611766ORPHA11111913533605870
HP:0003202HP:0003202Skeletal muscle atrophy2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM177410548601556
HP:0003202HP:0003202Skeletal muscle atrophy2ATXN2 CL E G H6311803ORPHA1444910555601517
HP:0003202HP:0003202Skeletal muscle atrophy2B3GALNT2 CL E G H148789899ORPHA11633628596610194
HP:0003202HP:0003202Skeletal muscle atrophy2B3GALT6 CL E G H12679275496ORPHA14027017978615291
HP:0003202HP:0003202Skeletal muscle atrophy2B4GALNT1 CL E G H2583101006ORPHA1131424117601873
HP:0003202HP:0003202Skeletal muscle atrophy2B4GALT7 CL E G H1128575496ORPHA19169930604327
HP:0003202HP:0003202Skeletal muscle atrophy2B4GAT1 CL E G H11041899ORPHA1711915685605517
HP:0003202HP:0003202Skeletal muscle atrophy2BICD2 CL E G H23299618291618291618291OMIM13543617208609797
HP:0003202HP:0003202Skeletal muscle atrophy2BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM1212891067112264
HP:0003202HP:0003202Skeletal muscle atrophy2C12orf65 CL E G H91574320375ORPHA11126784613541
HP:0003202HP:0003202Skeletal muscle atrophy2C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11126784613541
HP:0003202HP:0003202Skeletal muscle atrophy2C9orf72 CL E G H203228803ORPHA12416028337614260
HP:0003202HP:0003202Skeletal muscle atrophy2C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM12416028337614260
HP:0003202HP:0003202Skeletal muscle atrophy2CA8 CL E G H7671766ORPHA14771382114815
HP:0003202HP:0003202Skeletal muscle atrophy2CAPN1 CL E G H823488594ORPHA118801476114220
HP:0003202HP:0003202Skeletal muscle atrophy2CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM155428178613734
HP:0003202HP:0003202Skeletal muscle atrophy2CCNF CL E G H899803ORPHA1211081591600227
HP:0003202HP:0003202Skeletal muscle atrophy2CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM18461689107271
HP:0003202HP:0003202Skeletal muscle atrophy2CFAP410 CL E G H755803ORPHA12661260603191
HP:0003202HP:0003202Skeletal muscle atrophy2CHCHD10 CL E G H400916803ORPHA12720215559615903
HP:0003202HP:0003202Skeletal muscle atrophy2CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM12720215559615903
HP:0003202HP:0003202Skeletal muscle atrophy2CHMP2B CL E G H25978803ORPHA12210924537609512
HP:0003202HP:0003202Skeletal muscle atrophy2CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM12210924537609512
HP:0003202HP:0003202Skeletal muscle atrophy2CHRNA1 CL E G H113498913ORPHA1363081955100690
HP:0003202HP:0003202Skeletal muscle atrophy2CHRNB1 CL E G H114098913ORPHA1112771961100710
HP:0003202HP:0003202Skeletal muscle atrophy2CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112771961100710
HP:0003202HP:0003202Skeletal muscle atrophy2CHRND CL E G H114498913ORPHA1263221965100720
HP:0003202HP:0003202Skeletal muscle atrophy2CHRNE CL E G H114598913ORPHA11385911966100725
HP:0003202HP:0003202Skeletal muscle atrophy2CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11385911966100725
HP:0003202HP:0003202Skeletal muscle atrophy2CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM1211478011602346
HP:0003202HP:0003202Skeletal muscle atrophy2COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1520618622606978
HP:0003202HP:0003202Skeletal muscle atrophy2COL13A1 CL E G H130598913ORPHA131752190120350
HP:0003202HP:0003202Skeletal muscle atrophy2COL2A1 CL E G H12802380Freiberg's diseaseORPHA157011422200120140
HP:0003202HP:0003202Skeletal muscle atrophy2COL4A1 CL E G H1282899ORPHA11147842202120130
HP:0003202HP:0003202Skeletal muscle atrophy2COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113711922211120220
HP:0003202HP:0003202Skeletal muscle atrophy2COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119113552212120240
HP:0003202HP:0003202Skeletal muscle atrophy2COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119113552212120240
HP:0003202HP:0003202Skeletal muscle atrophy2COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM114319362213120250
HP:0003202HP:0003202Skeletal muscle atrophy2CPT1A CL E G H1374156ORPHA1534502328600528
HP:0003202HP:0003202Skeletal muscle atrophy2CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM129918540608846
HP:0003202HP:0003202Skeletal muscle atrophy2CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11605492518606272
HP:0003202HP:0003202Skeletal muscle atrophy2DAG1 CL E G H1605899ORPHA1113732666128239
HP:0003202HP:0003202Skeletal muscle atrophy2DAO CL E G H1610803ORPHA111472671124050
HP:0003202HP:0003202Skeletal muscle atrophy2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16522025538610956
HP:0003202HP:0003202Skeletal muscle atrophy2DCTN1 CL E G H1639803ORPHA1575622711601143
HP:0003202HP:0003202Skeletal muscle atrophy2DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM1641342858601465
HP:0003202HP:0003202Skeletal muscle atrophy2DHH CL E G H50846168563ORPHA118782865605423
HP:0003202HP:0003202Skeletal muscle atrophy2DHTKD1 CL E G H55526615025Charcot-Marie-Tooth disease, axonal, type 2Q615025C3554366OMIM11821223537614984
HP:0003202HP:0003202Skeletal muscle atrophy2DMD CL E G H175698896ORPHA1397050242928300377
HP:0003202HP:0003202Skeletal muscle atrophy2DMPK CL E G H1760273ORPHA182352933605377
HP:0003202HP:0003202Skeletal muscle atrophy2DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM151895228604139
HP:0003202HP:0003202Skeletal muscle atrophy2DOK7 CL E G H28548998913ORPHA17564126594610285
HP:0003202HP:0003202Skeletal muscle atrophy2DUX4 CL E G H100288687269ORPHA150800606009
HP:0003202HP:0003202Skeletal muscle atrophy2ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM16873363601752
HP:0003202HP:0003202Skeletal muscle atrophy2EPHA4 CL E G H2043803ORPHA14513388602188
HP:0003202HP:0003202Skeletal muscle atrophy2ERBB3 CL E G H2065607598Lethal congenital contracture syndrome 2607598C1843478OMIM14853431190151
HP:0003202HP:0003202Skeletal muscle atrophy2ERBB4 CL E G H2066803ORPHA1251993432600543
HP:0003202HP:0003202Skeletal muscle atrophy2ERGIC1 CL E G H572221143Cataract congenital autosomal dominantORPHA112329205617946
HP:0003202HP:0003202Skeletal muscle atrophy2ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM1151351356611605
HP:0003202HP:0003202Skeletal muscle atrophy2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11915317944606489
HP:0003202HP:0003202Skeletal muscle atrophy2FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM172424200615584
HP:0003202HP:0003202Skeletal muscle atrophy2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14845413601605654
HP:0003202HP:0003202Skeletal muscle atrophy2FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM1624283702300163
HP:0003202HP:0003202Skeletal muscle atrophy2FIG4 CL E G H9896803ORPHA17155316873609390
HP:0003202HP:0003202Skeletal muscle atrophy2FIG4 CL E G H9896612577Amyotrophic lateral sclerosis type 11612577C2675491OMIM17155316873609390
HP:0003202HP:0003202Skeletal muscle atrophy2FKBP14 CL E G H55033300179ORPHA1611618625614505
HP:0003202HP:0003202Skeletal muscle atrophy2FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM1611618625614505
HP:0003202HP:0003202Skeletal muscle atrophy2FKRP CL E G H79147899ORPHA114156517997606596
HP:0003202HP:0003202Skeletal muscle atrophy2FKTN CL E G H2218899ORPHA1595893622607440
HP:0003202HP:0003202Skeletal muscle atrophy2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1595893622607440
HP:0003202HP:0003202Skeletal muscle atrophy2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127118133754300017
HP:0003202HP:0003202Skeletal muscle atrophy2FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11732424682609144
HP:0003202HP:0003202Skeletal muscle atrophy2FRG1 CL E G H2483269ORPHA121213954601278
HP:0003202HP:0003202Skeletal muscle atrophy2FUS CL E G H2521803ORPHA11133184010137070
HP:0003202HP:0003202Skeletal muscle atrophy2GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1744124180607839
HP:0003202HP:0003202Skeletal muscle atrophy2GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1503734241138292
HP:0003202HP:0003202Skeletal muscle atrophy2GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM12315024298611458
HP:0003202HP:0003202Skeletal muscle atrophy2GLE1 CL E G H2733803ORPHA1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy2GLE1 CL E G H27331486Congenital herpes simplexORPHA1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy2GLE1 CL E G H2733611890Lethal arthrogryposis with anterior horn cell disease611890C2678471OMIM1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy2GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM1182984315603371
HP:0003202HP:0003202Skeletal muscle atrophy2GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM12793134392139320
HP:0003202HP:0003202Skeletal muscle atrophy2GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM1161104699603942
HP:0003202HP:0003202Skeletal muscle atrophy2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11263574879606873
HP:0003202HP:0003202Skeletal muscle atrophy2HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM1151144912601314
HP:0003202HP:0003202Skeletal muscle atrophy2HNRNPA1 CL E G H3178803ORPHA112585031164017
HP:0003202HP:0003202Skeletal muscle atrophy2HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM151255033600124
HP:0003202HP:0003202Skeletal muscle atrophy2HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM12625248604624
HP:0003202HP:0003202Skeletal muscle atrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM16712925273142461
HP:0003202HP:0003202Skeletal muscle atrophy2INPP5K CL E G H51763559ORPHA11014133882607875
HP:0003202HP:0003202Skeletal muscle atrophy2INSR CL E G H3643508Acroosteolysis dominant typeORPHA11965036091147670
HP:0003202HP:0003202Skeletal muscle atrophy2INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11965036091147670
HP:0003202HP:0003202Skeletal muscle atrophy2ISPD CL E G H729920899ORPHA153637276614631
HP:0003202HP:0003202Skeletal muscle atrophy2ISPD CL E G H729920352479ORPHA153637276614631
HP:0003202HP:0003202Skeletal muscle atrophy2ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM1105066143600536
HP:0003202HP:0003202Skeletal muscle atrophy2KIF1A CL E G H547970ORPHA1431405888601255
HP:0003202HP:0003202Skeletal muscle atrophy2KLHL40 CL E G H131377171430ORPHA12626430372615340
HP:0003202HP:0003202Skeletal muscle atrophy2KLHL41 CL E G H10324171433ORPHA1915316905607701
HP:0003202HP:0003202Skeletal muscle atrophy2KLHL41 CL E G H10324171430ORPHA1915316905607701
HP:0003202HP:0003202Skeletal muscle atrophy2KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM137026576605739
HP:0003202HP:0003202Skeletal muscle atrophy2LARGE1 CL E G H9215899ORPHA1285136511603590
HP:0003202HP:0003202Skeletal muscle atrophy2LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM1416516084607908
HP:0003202HP:0003202Skeletal muscle atrophy2LMNA CL E G H4000157973ORPHA157413316636150330
HP:0003202HP:0003202Skeletal muscle atrophy2LMNA CL E G H400079474ORPHA157413316636150330
HP:0003202HP:0003202Skeletal muscle atrophy2LMOD3 CL E G H56203171430ORPHA1182386649616112
HP:0003202HP:0003202Skeletal muscle atrophy2LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM1182386649616112
HP:0003202HP:0003202Skeletal muscle atrophy2LRP4 CL E G H403898913ORPHA1345266696604270
HP:0003202HP:0003202Skeletal muscle atrophy2LTBP4 CL E G H842598896ORPHA1183776717604710
HP:0003202HP:0003202Skeletal muscle atrophy2MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM177517797609479
HP:0003202HP:0003202Skeletal muscle atrophy2MATR3 CL E G H9782803ORPHA1162456912164015
HP:0003202HP:0003202Skeletal muscle atrophy2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11174026937609014
HP:0003202HP:0003202Skeletal muscle atrophy2MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19876971154100
HP:0003202HP:0003202Skeletal muscle atrophy2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105015846990300005
HP:0003202HP:0003202Skeletal muscle atrophy2MPZ CL E G H4359101082ORPHA12464887225159440
HP:0003202HP:0003202Skeletal muscle atrophy2MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM12464887225159440
HP:0003202HP:0003202Skeletal muscle atrophy2MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0003202HP:0003202Skeletal muscle atrophy2MT-TL1 CL E G H4567480ORPHA17490590050
HP:0003202HP:0003202Skeletal muscle atrophy2MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM122317413156540
HP:0003202HP:0003202Skeletal muscle atrophy2MTM1 CL E G H4534596Albright like syndromeORPHA13276067448300415
HP:0003202HP:0003202Skeletal muscle atrophy2MUSK CL E G H459398913ORPHA1223807525601296
HP:0003202HP:0003202Skeletal muscle atrophy2MYBPC1 CL E G H4604614915Lethal congenital contracture syndrome 4614915C3554046OMIM182687549160794
HP:0003202HP:0003202Skeletal muscle atrophy2MYMK CL E G H3898271358ORPHA177633778615345
HP:0003202HP:0003202Skeletal muscle atrophy2MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM177633778615345
HP:0003202HP:0003202Skeletal muscle atrophy2NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16551819082611549
HP:0003202HP:0003202Skeletal muscle atrophy2NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM11415826274612803
HP:0003202HP:0003202Skeletal muscle atrophy2NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM120130117619609449
HP:0003202HP:0003202Skeletal muscle atrophy2NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM145223987614530
HP:0003202HP:0003202Skeletal muscle atrophy2NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM11016228625612392
HP:0003202HP:0003202Skeletal muscle atrophy2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0003202HP:0003202Skeletal muscle atrophy2NEB CL E G H4703171433ORPHA132145957720161650
HP:0003202HP:0003202Skeletal muscle atrophy2NEB CL E G H4703171430ORPHA132145957720161650
HP:0003202HP:0003202Skeletal muscle atrophy2NEFH CL E G H4744803ORPHA1251457737162230
HP:0003202HP:0003202Skeletal muscle atrophy2NEK1 CL E G H4750803ORPHA1304127744604588
HP:0003202HP:0003202Skeletal muscle atrophy2NEU1 CL E G H4758812ORPHA1641107758608272
HP:0003202HP:0003202Skeletal muscle atrophy2NEU1 CL E G H4758256550Sialidosis, type II256550